diff --git a/README.md b/README.md index 1c673fd0..cf730053 100644 --- a/README.md +++ b/README.md @@ -93,7 +93,7 @@ nextflow run ${CODE_ROOT}/pipelines/annotation_pipeline.nf \ ``` You can use the `--include_transcripts` flag to also include transcript annotations with the functional consequences. -By default, the pipeline will download and annotate the latest ClinVar XML dump from [FTP](https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/). If you want to run it on an existing XML file, you can pass it via the `--clinvar` flag. +By default, the pipeline will download and annotate the latest ClinVar RCV XML dump from [FTP](https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/). If you want to run it on an existing XML file, you can pass it via the `--clinvar` flag. ### Trait curation @@ -125,9 +125,9 @@ nextflow run ${CODE_ROOT}/pipelines/generate_curation_spreadsheet.nf \ -resume ``` -By default, the pipeline will download and map the latest ClinVar XML dump from [FTP](https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/). If you want to run it on an existing XML file, you can pass it via the `--clinvar` flag. +By default, the pipeline will download and map the latest ClinVar RCV XML dump from [FTP](https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/). If you want to run it on an existing XML file, you can pass it via the `--clinvar` flag. -To create the curation spreadsheet, first make your own copy of the [template](https://docs.google.com/spreadsheets/d/1PyDzRs3bO1klvvSv9XuHmx-x7nqZ0UAGeS6aV2SQ2Yg/edit?usp=sharing). +To create the curation spreadsheet, first make your own copy of the [template](https://docs.google.com/spreadsheets/d/1GWAQAZjOpzsIkdCu0CSRDoehZEUB3VjZYYiHWp9Tn7Q/edit?usp=sharing). Then paste the contents of `${CURATION_ROOT}/google_sheets_table.tsv` into it, starting with column H “ClinVar label”. #### Manual curation diff --git a/bin/cmat/VERSION b/bin/cmat/VERSION index 711ee4f5..91c46281 100644 --- a/bin/cmat/VERSION +++ b/bin/cmat/VERSION @@ -1 +1 @@ -3.1.3 \ No newline at end of file +3.2.0.dev0 \ No newline at end of file diff --git a/cmat/clinvar_xml_io/clinical_classification.py b/cmat/clinvar_xml_io/clinical_classification.py new file mode 100644 index 00000000..33feaa18 --- /dev/null +++ b/cmat/clinvar_xml_io/clinical_classification.py @@ -0,0 +1,82 @@ +import re + +from cmat.clinvar_xml_io.xml_parsing import find_mandatory_unique_element, find_optional_unique_element + + +class MultipleClinicalClassificationsError(NotImplementedError): + # Raised when we encounter multiples of clinical classifications or their attributes when not expected. + # This is new as of ClinVar XSD V2 and will be supported at some point in the future. + pass + + +class ClinicalClassification: + + # A score for the review status of the assigned clinical significance ranges from 0 to 4 and corresponds to the + # number of "gold stars" displayed on ClinVar website. See details here: + # https://www.ncbi.nlm.nih.gov/clinvar/docs/details/#review_status + score_map = { + 'no assertion provided': 0, # v1 only + 'no classification provided': 0, + 'no classification for the single variant': 0, + 'no assertion criteria provided': 0, + 'no classifications from unflagged records': 0, + 'criteria provided, single submitter': 1, + 'criteria provided, conflicting interpretations': 1, # v1 only + 'criteria provided, conflicting classifications': 1, + 'criteria provided, multiple submitters, no conflicts': 2, + 'reviewed by expert panel': 3, + 'practice guideline': 4, + } + + # Some records have been flagged by ClinVar and should not be used. + INVALID_CLINICAL_SIGNIFICANCES = {'no classifications from unflagged records'} + + def __init__(self, class_xml, clinvar_record): + self.class_xml = class_xml + self.clinvar_record = clinvar_record + self.xsd_version = clinvar_record.xsd_version + # Type of clinical classification: germline, somatic, or oncogenicity + self.type = class_xml.tag + + @property + def last_evaluated_date(self): + """This tracks the latest (re)evaluation date for the clinical interpretation. + See https://github.com/opentargets/platform/issues/1161#issuecomment-683938510 for details.""" + if self.xsd_version < 2: + # The DateLastEvaluated attribute is not always present. In this case, this property will be None. + return self.class_xml.attrib.get('DateLastEvaluated') + return find_optional_unique_element(self.class_xml, './DateLastEvaluated') + + @property + def review_status(self): + """Return a review status text for the assigned clinical significance. See score_map above for the list of + possible values.""" + review_status = find_mandatory_unique_element(self.class_xml, './ReviewStatus').text + assert review_status in self.score_map, f'Unknown review status {review_status} in RCV {self.accession}' + return review_status + + @property + def score(self): + """Return a score (star rating) for the assigned clinical significance. See score_map above.""" + return self.score_map[self.review_status] + + @property + def clinical_significance_raw(self): + """The original clinical significance string as stored in ClinVar. Example: 'Benign/Likely benign'.""" + try: + return find_mandatory_unique_element(self.class_xml, './Description').text + except AssertionError as e: + raise MultipleClinicalClassificationsError(f'Found multiple descriptions for one ClinicalClassification in ' + f'{self.clinvar_record.accession}') + + @property + def clinical_significance_list(self): + """The normalised deduplicated list of all clinical significance values. The original value is (1) split into + multiple values by 3 delimiters: ('/', ', ', '; '), (2) converted into lowercase and (3) sorted + lexicographically. Example: 'Benign/Likely benign, risk_factor' → ['benign', 'likely benign', 'risk factor']. + See /data-exploration/clinvar-variant-types/README.md for further explanation.""" + return sorted(list(set(re.split('/|, |; ', self.clinical_significance_raw.lower().replace('_', ' '))))) + + @property + def valid_clinical_significances(self): + return [cs for cs in self.clinical_significance_list if cs.lower() not in self.INVALID_CLINICAL_SIGNIFICANCES] diff --git a/cmat/clinvar_xml_io/clinvar_dataset.py b/cmat/clinvar_xml_io/clinvar_dataset.py index a28a4da5..b436f11a 100644 --- a/cmat/clinvar_xml_io/clinvar_dataset.py +++ b/cmat/clinvar_xml_io/clinvar_dataset.py @@ -1,5 +1,6 @@ import gzip import logging +import re from datetime import date from cmat.clinvar_xml_io.clinvar_record import ClinVarRecord @@ -15,10 +16,21 @@ def __init__(self, clinvar_xml): self.clinvar_xml = clinvar_xml self.header_attr = parse_header_attributes(clinvar_xml) self.header_attr['LastProcessed'] = date.today().strftime('%Y-%m-%d') + self.xsd_version = self.get_xsd_version() def __iter__(self): for rcv in iterate_rcv_from_xml(self.clinvar_xml): - yield ClinVarRecord(rcv) + yield ClinVarRecord(rcv, self.xsd_version) + + def get_xsd_version(self): + # For format, see https://github.com/ncbi/clinvar/blob/master/FTPSiteXsdChanges.md + if 'xsi:noNamespaceSchemaLocation' in self.header_attr: + url = self.header_attr['xsi:noNamespaceSchemaLocation'] + m = re.search(r'(ClinVar_RCV|clinvar_public)_([0-9.]+)\.xsd', url, flags=re.IGNORECASE) + if m and m.group(2): + return float(m.group(2)) + # If we cannot parse, assume v2 + return 2.0 def write_header(self, output_file): header = b'\n 1: + raise MultipleClinicalClassificationsError(f'Found multiple ClinicalClassifications for {self.accession}') + return self.clinical_classifications[0].last_evaluated_date @property - def allele_origins(self): - return {elem.text for elem in find_elements(self.rcv, './ObservedIn/Sample/Origin')} + def review_status(self): + if len(self.clinical_classifications) > 1: + raise MultipleClinicalClassificationsError(f'Found multiple ClinicalClassifications for {self.accession}') + return self.clinical_classifications[0].review_status @property - def valid_allele_origins(self): - """Returns all valid allele origins, i.e. ones that are not in the list of nonspecific terms.""" - return {origin for origin in self.allele_origins if origin.lower() not in self.NONSPECIFIC_ALLELE_ORIGINS} + def score(self): + if len(self.clinical_classifications) > 1: + raise MultipleClinicalClassificationsError(f'Found multiple ClinicalClassifications for {self.accession}') + return self.clinical_classifications[0].score + + @property + def clinical_significance_list(self): + if len(self.clinical_classifications) > 1: + raise MultipleClinicalClassificationsError(f'Found multiple ClinicalClassifications for {self.accession}') + return self.clinical_classifications[0].clinical_significance_list + + @property + def valid_clinical_significances(self): + if len(self.clinical_classifications) > 1: + raise MultipleClinicalClassificationsError(f'Found multiple ClinicalClassifications for {self.accession}') + return self.clinical_classifications[0].valid_clinical_significances diff --git a/cmat/clinvar_xml_io/xml_parsing.py b/cmat/clinvar_xml_io/xml_parsing.py index 3a7ddf3b..1023e70e 100644 --- a/cmat/clinvar_xml_io/xml_parsing.py +++ b/cmat/clinvar_xml_io/xml_parsing.py @@ -10,7 +10,7 @@ def parse_header_attributes(clinvar_xml): """Parses out attributes to the root-level ReleaseSet element and returns them as a dict.""" attrib = None with gzip.open(clinvar_xml, 'rt') as fh: - for event, elem in ElementTree.iterparse(fh): + for event, elem in ElementTree.iterparse(fh, events=['start']): if elem.tag == 'ReleaseSet': attrib = elem.attrib break diff --git a/cmat/output_generation/annotated_clinvar.py b/cmat/output_generation/annotated_clinvar.py index d4c2e850..c39d4974 100644 --- a/cmat/output_generation/annotated_clinvar.py +++ b/cmat/output_generation/annotated_clinvar.py @@ -68,7 +68,7 @@ def __iter__(self): self.mismatches_file.write('RCV\tCV\tCMAT\n') for rcv in iterate_rcv_from_xml(self.clinvar_xml): - record = AnnotatedClinVarRecord(rcv) + record = AnnotatedClinVarRecord(rcv, self.xsd_version) self.annotate(record) yield record @@ -213,8 +213,9 @@ def print_counter(counter): class AnnotatedClinVarRecord(ClinVarRecord): - def __init__(self, rcv): - super().__init__(rcv, trait_class=OntologyMappedClinVarTrait, measure_class=EnsemblAnnotatedClinVarMeasure) + def __init__(self, rcv, xsd_version): + super().__init__(rcv, xsd_version, trait_class=OntologyMappedClinVarTrait, + measure_class=EnsemblAnnotatedClinVarMeasure) class OntologyMappedClinVarTrait(ClinVarTrait): diff --git a/cmat/output_generation/clinvar_to_evidence_strings.py b/cmat/output_generation/clinvar_to_evidence_strings.py index b1cb25c2..a9c4c16c 100644 --- a/cmat/output_generation/clinvar_to_evidence_strings.py +++ b/cmat/output_generation/clinvar_to_evidence_strings.py @@ -9,6 +9,7 @@ import jsonschema from cmat.clinvar_xml_io import ClinVarDataset +from cmat.clinvar_xml_io.clinical_classification import MultipleClinicalClassificationsError from cmat.output_generation import consequence_type as CT from cmat.output_generation.report import Report @@ -77,6 +78,15 @@ def clinvar_to_evidence_strings(string_to_efo_mappings, variant_to_gene_mappings # Catch any exceptions for this record so we can continue processing. try: + # Failure mode 0 (skip). Contains multiple clinical classification annotations. + # This is new as of V2 of the ClinVar XSD and should definitely be supported at some point, + # but as it can cause parsing complications we catch these cases first. + # See GH issue for context: https://github.com/EBIvariation/CMAT/issues/396 + if len(clinvar_record.clinical_classifications) > 1: + logger.warning(f'Found multiple clinical classifications in record {clinvar_record.accession}') + report.clinvar_skip_multiple_clinical_classifications += 1 + continue + # Failure mode 1 (fatal). A ClinVar record contains no valid traits (traits which have at least one valid, # potentially mappable name). if not clinvar_record.traits_with_valid_names: @@ -153,6 +163,11 @@ def clinvar_to_evidence_strings(string_to_efo_mappings, variant_to_gene_mappings report.complete_evidence_string_count += complete_evidence_strings_generated report.evidence_string_count += evidence_strings_generated + except MultipleClinicalClassificationsError as mcce: + # Ensure we catch any of these that fall through (e.g. from multiple description text) + logger.error(str(mcce)) + report.clinvar_skip_multiple_clinical_classifications += 1 + except Exception as e: # We catch exceptions but record when one is thrown, so that the pipeline will crash after processing all # records and printing the report. diff --git a/cmat/output_generation/report.py b/cmat/output_generation/report.py index b2403c7b..714a502e 100644 --- a/cmat/output_generation/report.py +++ b/cmat/output_generation/report.py @@ -31,6 +31,7 @@ def __init__(self, trait_mappings=None, consequence_mappings=None): self.clinvar_skip_no_functional_consequences = 0 self.clinvar_skip_missing_efo_mapping = 0 self.clinvar_skip_invalid_evidence_string = 0 + self.clinvar_skip_multiple_clinical_classifications = 0 self.clinvar_done_one_complete_evidence_string = 0 self.clinvar_done_multiple_complete_evidence_strings = 0 self.clinvar_fatal = 0 @@ -89,7 +90,8 @@ def compute_record_tallies(self): """Compute tallies of records fatal/skipped/done based on the more granular counts.""" self.clinvar_fatal = self.clinvar_fatal_no_valid_traits + self.clinvar_fatal_no_clinical_significance self.clinvar_skipped = (self.clinvar_skip_unsupported_variation + self.clinvar_skip_no_functional_consequences + - self.clinvar_skip_missing_efo_mapping + self.clinvar_skip_invalid_evidence_string) + self.clinvar_skip_missing_efo_mapping + self.clinvar_skip_invalid_evidence_string + + self.clinvar_skip_multiple_clinical_classifications) self.clinvar_done = (self.clinvar_done_one_complete_evidence_string + self.clinvar_done_multiple_complete_evidence_strings) @@ -118,6 +120,7 @@ def print_report(self): No functional consequences\t{self.clinvar_skip_no_functional_consequences} Missing EFO mapping\t{self.clinvar_skip_missing_efo_mapping} Invalid evidence string\t{self.clinvar_skip_invalid_evidence_string} + Multiple clinical classifications\t{self.clinvar_skip_multiple_clinical_classifications} Done: Generated at least one complete evidence string\t{self.clinvar_done} One complete evidence string\t{self.clinvar_done_one_complete_evidence_string} Multiple complete evidence strings\t{self.clinvar_done_multiple_complete_evidence_strings} diff --git a/data-exploration/filter_clinvar_xml.py b/data-exploration/filter_clinvar_xml.py index ef281871..ad25eb4a 100644 --- a/data-exploration/filter_clinvar_xml.py +++ b/data-exploration/filter_clinvar_xml.py @@ -34,14 +34,14 @@ def filter_xml(input_xml, output_xml, filter_fct, max_num=None): """ Filter input_xml by boolean condition defined by filter_fct and write to output_xml. If max_num is given, will write at most max_num records, otherwise writes all.""" header = b''' - + ''' count = 0 with gzip.open(output_xml, 'wb') as output_file: output_file.write(header) for raw_cvs_xml in iterate_cvs_from_xml(input_xml): rcv = find_mandatory_unique_element(raw_cvs_xml, 'ReferenceClinVarAssertion') - record = ClinVarRecord(rcv) + record = ClinVarRecord(rcv, 2.0) if filter_fct(record): output_file.write(ElementTree.tostring(raw_cvs_xml)) count += 1 diff --git a/pipelines/annotation_pipeline.nf b/pipelines/annotation_pipeline.nf index ea8c866e..1dd2d9a1 100644 --- a/pipelines/annotation_pipeline.nf +++ b/pipelines/annotation_pipeline.nf @@ -106,7 +106,7 @@ process downloadClinvar { script: """ wget -O clinvar.xml.gz \ - https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/ClinVarFullRelease_00-latest.xml.gz + https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/RCV_release/ClinVarRCVRelease_00-latest.xml.gz """ } diff --git a/pipelines/generate_curation_spreadsheet.nf b/pipelines/generate_curation_spreadsheet.nf index 5a50d24b..5ea2b219 100644 --- a/pipelines/generate_curation_spreadsheet.nf +++ b/pipelines/generate_curation_spreadsheet.nf @@ -67,7 +67,7 @@ process downloadClinvar { script: """ wget -O clinvar.xml.gz \ - https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/ClinVarFullRelease_00-latest.xml.gz + https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/RCV_release/ClinVarRCVRelease_00-latest.xml.gz """ } diff --git a/tests/clinvar_xml_io/resources/test_clinvar_dataset.xml.gz b/tests/clinvar_xml_io/resources/clinvar_dataset_v1.xml.gz similarity index 90% rename from tests/clinvar_xml_io/resources/test_clinvar_dataset.xml.gz rename to tests/clinvar_xml_io/resources/clinvar_dataset_v1.xml.gz index f00d34bf..ebfddebe 100644 Binary files a/tests/clinvar_xml_io/resources/test_clinvar_dataset.xml.gz and b/tests/clinvar_xml_io/resources/clinvar_dataset_v1.xml.gz differ diff --git a/tests/clinvar_xml_io/resources/clinvar_dataset_v2.xml.gz b/tests/clinvar_xml_io/resources/clinvar_dataset_v2.xml.gz new file mode 100644 index 00000000..ba6271fd Binary files /dev/null and b/tests/clinvar_xml_io/resources/clinvar_dataset_v2.xml.gz differ diff --git a/tests/clinvar_xml_io/resources/multiple_classifications.xml.gz b/tests/clinvar_xml_io/resources/multiple_classifications.xml.gz new file mode 100644 index 00000000..72bb2c3f Binary files /dev/null and b/tests/clinvar_xml_io/resources/multiple_classifications.xml.gz differ diff --git a/tests/clinvar_xml_io/test_clinvar_dataset.py b/tests/clinvar_xml_io/test_clinvar_dataset.py index 4e9c82e5..de6d7ff7 100644 --- a/tests/clinvar_xml_io/test_clinvar_dataset.py +++ b/tests/clinvar_xml_io/test_clinvar_dataset.py @@ -7,7 +7,7 @@ def test_dataset_write(): - input_file = os.path.join(resources_dir, 'test_clinvar_dataset.xml.gz') + input_file = os.path.join(resources_dir, 'clinvar_dataset_v2.xml.gz') output_file = os.path.join(resources_dir, 'test_output.xml.gz') input_dataset = ClinVarDataset(input_file) diff --git a/tests/clinvar_xml_io/test_clinvar_record.py b/tests/clinvar_xml_io/test_clinvar_record.py new file mode 100644 index 00000000..f6000c55 --- /dev/null +++ b/tests/clinvar_xml_io/test_clinvar_record.py @@ -0,0 +1,34 @@ +import os + +import pytest + +from cmat.clinvar_xml_io import ClinVarDataset +from cmat.clinvar_xml_io.clinical_classification import MultipleClinicalClassificationsError + +resources_dir = os.path.join(os.path.dirname(__file__), 'resources') + + +def test_clinvar_record_v1_v2_migration(): + # Same RCV in both versions + v1_input_file = os.path.join(resources_dir, 'clinvar_dataset_v1.xml.gz') + v2_input_file = os.path.join(resources_dir, 'clinvar_dataset_v2.xml.gz') + record_v1 = next(iter(ClinVarDataset(v1_input_file))) + record_v2 = next(iter(ClinVarDataset(v2_input_file))) + assert record_v1.xsd_version == 1.6 + assert record_v2.xsd_version == 2.0 + + assert record_v1.accession == record_v2.accession + assert record_v1.score == record_v2.score + assert set(record_v1.valid_clinical_significances) == set(record_v2.valid_clinical_significances) + assert set(record_v1.valid_allele_origins) == set(record_v2.valid_allele_origins) + + +def test_multiple_clinical_classifications_record(): + # input dataset with only one record + input_file = os.path.join(resources_dir, 'multiple_classifications.xml.gz') + record = next(iter(ClinVarDataset(input_file))) + + assert len(record.clinical_classifications) == 2 + assert set(cc.type for cc in record.clinical_classifications) == {'GermlineClassification', 'SomaticClinicalImpact'} + with pytest.raises(MultipleClinicalClassificationsError): + print(record.valid_clinical_significances) diff --git a/tests/clinvar_xml_io/test_xml_parsing.py b/tests/clinvar_xml_io/test_xml_parsing.py new file mode 100644 index 00000000..28a2231a --- /dev/null +++ b/tests/clinvar_xml_io/test_xml_parsing.py @@ -0,0 +1,13 @@ +import os + +from cmat.clinvar_xml_io.xml_parsing import parse_header_attributes + + +resources_dir = os.path.join(os.path.dirname(__file__), 'resources') + + +def test_parse_header_attributes(): + input_file = os.path.join(resources_dir, 'clinvar_dataset_v2.xml.gz') + header_attr = parse_header_attributes(input_file) + assert header_attr['Dated'] == '2023-02-22' + assert header_attr['xsi:noNamespaceSchemaLocation'] == 'https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xsd_public/RCV/ClinVar_RCV_2.0.xsd' diff --git a/tests/output_generation/resources/expected_annotation_output.xml.gz b/tests/output_generation/resources/expected_annotation_output.xml.gz index fd2b56cd..ca8d52c3 100644 Binary files a/tests/output_generation/resources/expected_annotation_output.xml.gz and b/tests/output_generation/resources/expected_annotation_output.xml.gz differ diff --git a/tests/output_generation/resources/expected_genetics_evidence_string.json b/tests/output_generation/resources/expected_genetics_evidence_string.json index fb307f3f..cb7c8d39 100644 --- a/tests/output_generation/resources/expected_genetics_evidence_string.json +++ b/tests/output_generation/resources/expected_genetics_evidence_string.json @@ -19,7 +19,7 @@ "15258582", "15322982" ], - "releaseDate": "2012-08-13", + "releaseDate": "2013-04-04", "studyId": "RCV000002127", "targetFromSourceId": "ENSG00000139988", "variantFunctionalConsequenceId": "SO_0001583", diff --git a/tests/output_generation/resources/expected_multiple_names_evidence_string.json b/tests/output_generation/resources/expected_multiple_names_evidence_string.json index 4c65a528..f4788ba4 100644 --- a/tests/output_generation/resources/expected_multiple_names_evidence_string.json +++ b/tests/output_generation/resources/expected_multiple_names_evidence_string.json @@ -6,12 +6,8 @@ "pathogenic" ], "cohortPhenotypes": [ - "Abnormal skeletal development", - "Congenital bone fractures", - "Multiple fractures present at birth", "Multiple prenatal fractures", - "Numerous multiple fractures present at birth", - "Numerous multiple fractures that are present at birth", + "Primary bone dysplasia", "Skeletal dysplasia" ], "confidence": "criteria provided, single submitter", @@ -20,7 +16,7 @@ "diseaseFromSource": "Skeletal dysplasia", "diseaseFromSourceId": "C0410528", "diseaseFromSourceMappedId": "HP_0002652", - "releaseDate": "2017-01-12", + "releaseDate": "2017-01-13", "studyId": "RCV000415158", "targetFromSourceId": "ENSG00000139988", "variantFunctionalConsequenceId": "SO_0001583", diff --git a/tests/output_generation/resources/expected_somatic_evidence_string.json b/tests/output_generation/resources/expected_somatic_evidence_string.json index 37c1bac3..9ab3a363 100644 --- a/tests/output_generation/resources/expected_somatic_evidence_string.json +++ b/tests/output_generation/resources/expected_somatic_evidence_string.json @@ -19,7 +19,7 @@ "15258582", "15322982" ], - "releaseDate": "2012-08-13", + "releaseDate": "2013-04-04", "studyId": "RCV000002127", "targetFromSourceId": "ENSG00000139988", "variantFunctionalConsequenceId": "SO_0001583", diff --git a/tests/output_generation/resources/multiple_names.xml.gz b/tests/output_generation/resources/multiple_names.xml.gz index cc76b7cc..bb77e9ed 100644 Binary files a/tests/output_generation/resources/multiple_names.xml.gz and b/tests/output_generation/resources/multiple_names.xml.gz differ diff --git a/tests/output_generation/resources/test_annotation_input.xml.gz b/tests/output_generation/resources/test_annotation_input.xml.gz index 1dc10fb9..12b3b8e7 100644 Binary files a/tests/output_generation/resources/test_annotation_input.xml.gz and b/tests/output_generation/resources/test_annotation_input.xml.gz differ diff --git a/tests/output_generation/resources/test_clinvar_record.xml.gz b/tests/output_generation/resources/test_clinvar_record.xml.gz index c1e0ae03..a069f276 100644 Binary files a/tests/output_generation/resources/test_clinvar_record.xml.gz and b/tests/output_generation/resources/test_clinvar_record.xml.gz differ diff --git a/tests/output_generation/resources/test_structural_record.xml.gz b/tests/output_generation/resources/test_structural_record.xml.gz index 516d5695..8a3d730a 100644 Binary files a/tests/output_generation/resources/test_structural_record.xml.gz and b/tests/output_generation/resources/test_structural_record.xml.gz differ diff --git a/tests/output_generation/test_clinvar.py b/tests/output_generation/test_clinvar.py index 3a0f5c14..9dcedfbd 100644 --- a/tests/output_generation/test_clinvar.py +++ b/tests/output_generation/test_clinvar.py @@ -10,7 +10,7 @@ def setup_class(cls): def test_date(self): """Check that the last updated date of the referenceClinVarAssertion is loaded correctly""" - assert self.test_clinvar_record.date == '2020-09-16' + assert self.test_clinvar_record.date == '2024-04-15' def test_score(self): assert self.test_clinvar_record.score == 2 @@ -26,7 +26,7 @@ def test_traits(self): assert self.test_clinvar_record.traits[0].preferred_or_other_valid_name == 'Leber congenital amaurosis 13' def test_trait_pubmed_refs(self): - assert self.test_clinvar_record.traits[0].pubmed_refs == [20301475, 20301590, 30285347] + assert self.test_clinvar_record.traits[0].pubmed_refs == [20301590, 30285347] def test_observed_pubmed_refs(self): assert self.test_clinvar_record.evidence_support_pubmed_refs == [15258582, 15322982] diff --git a/tests/pipelines/resources/expected/automated_trait_mappings.tsv b/tests/pipelines/resources/expected/automated_trait_mappings.tsv index 055f465a..4274e9a9 100644 --- a/tests/pipelines/resources/expected/automated_trait_mappings.tsv +++ b/tests/pipelines/resources/expected/automated_trait_mappings.tsv @@ -32,7 +32,7 @@ aortic aneurysm, familial thoracic 6 http://purl.obolibrary.org/obo/MONDO_001273 aortic aneurysm, familial thoracic 7 http://purl.obolibrary.org/obo/MONDO_0013418 aortic aneurysm, familial thoracic 7 aortic valve disease 2 http://purl.obolibrary.org/obo/MONDO_0007194 familial bicuspid aortic valve aromatase deficiency http://purl.obolibrary.org/obo/MONDO_0013301 aromatase deficiency -arrhythmogenic cardiomyopathy with woolly hair and keratoderma http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma +arrhythmogenic cardiomyopathy with wooly hair and keratoderma http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma arrhythmogenic right ventricular dysplasia 10 http://purl.obolibrary.org/obo/MONDO_0012434 arrhythmogenic right ventricular dysplasia 10 arrhythmogenic right ventricular dysplasia 13 http://www.orpha.net/ORDO/Orphanet_247 Inherited arrhythmogenic cardiomyopathy arrhythmogenic right ventricular dysplasia 5 http://purl.obolibrary.org/obo/MONDO_0011459 arrhythmogenic right ventricular dysplasia 5 @@ -60,6 +60,7 @@ autosomal dominant slowed nerve conduction velocity http://purl.obolibrary.org/o autosomal recessive ataxia, beauce type http://purl.obolibrary.org/obo/MONDO_0012549 autosomal recessive ataxia, beauce type autosomal recessive congenital ichthyosis 5 http://purl.obolibrary.org/obo/MONDO_0017778 lamellar ichthyosis autosomal recessive distal spinal muscular atrophy 1 http://purl.obolibrary.org/obo/MONDO_0011436 autosomal recessive distal spinal muscular atrophy 1 +autosomal recessive inherited pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0009925 autosomal recessive inherited pseudoxanthoma elasticum autosomal recessive limb-girdle muscular dystrophy type 2b http://purl.obolibrary.org/obo/MONDO_0009676 autosomal recessive limb-girdle muscular dystrophy type 2b autosomal recessive limb-girdle muscular dystrophy type 2j http://purl.obolibrary.org/obo/MONDO_0012127 autosomal recessive limb-girdle muscular dystrophy type 2j autosomal recessive limb-girdle muscular dystrophy type 2q http://purl.obolibrary.org/obo/MONDO_0013390 autosomal recessive limb-girdle muscular dystrophy type 2q @@ -78,14 +79,13 @@ bardet-biedl syndrome http://purl.obolibrary.org/obo/MONDO_0015229 bardet-biedl bardet-biedl syndrome 10 http://www.ebi.ac.uk/efo/EFO_0009022 bardet-biedl syndrome 10 bardet-biedl syndrome 14 http://purl.obolibrary.org/obo/MONDO_0014442 bardet-biedl syndrome 14 bardet-biedl syndrome 2 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome -bartsocas-papas syndrome http://purl.obolibrary.org/obo/MONDO_0009901 Bartsocas-Papas syndrome 1 +bartsocas-papas syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009901 bartsocas-papas syndrome 1 becker muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010311 becker muscular dystrophy beckwith-wiedemann syndrome http://purl.obolibrary.org/obo/MONDO_0007534 beckwith-wiedemann syndrome biotinidase deficiency http://purl.obolibrary.org/obo/MONDO_0009665 biotinidase deficiency -blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome bloom syndrome http://purl.obolibrary.org/obo/MONDO_0008876 bloom syndrome -borjeson-forssman-lehmann syndrome http://purl.obolibrary.org/obo/MONDO_0010537 borjeson-forssman-lehmann syndrome breast and/or ovarian cancer http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome +breast ductal adenocarcinoma http://www.ebi.ac.uk/efo/EFO_0006318 breast ductal adenocarcinoma breast neoplasm http://www.ebi.ac.uk/efo/EFO_0003869 breast neoplasm breast-ovarian cancer, familial, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0011450 breast-ovarian cancer, familial, susceptibility to, 1 breast-ovarian cancer, familial, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0012933 breast-ovarian cancer, familial, susceptibility to, 2 @@ -110,7 +110,6 @@ cataract 18 http://www.orpha.net/ORDO/Orphanet_98992 Early-onset partial catarac cataract 6 multiple types http://purl.obolibrary.org/obo/MONDO_0011060 early-onset non-syndromic cataract cataract 6 multiple types http://www.orpha.net/ORDO/Orphanet_98993 Early-onset posterior polar cataract cataract 6 multiple types http://www.orpha.net/ORDO/Orphanet_98994 Total early-onset cataract -catecholaminergic polymorphic ventricular tachycardia http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia charcot-marie-tooth disease http://purl.obolibrary.org/obo/MONDO_0015626 charcot-marie-tooth disease charcot-marie-tooth disease axonal type 2o http://purl.obolibrary.org/obo/MONDO_0013644 charcot-marie-tooth disease axonal type 2o charcot-marie-tooth disease axonal type 2s http://purl.obolibrary.org/obo/MONDO_0014511 charcot-marie-tooth disease axonal type 2s @@ -162,10 +161,8 @@ costello syndrome http://purl.obolibrary.org/obo/MONDO_0009026 costello syndrome cowden syndrome 6 http://purl.obolibrary.org/obo/MONDO_0014048 cowden syndrome 6 cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia craniometaphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0015465 craniometaphyseal dysplasia -cutis laxa, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0007411 cutis laxa, autosomal dominant 1 cutis laxa, x-linked http://purl.obolibrary.org/obo/MONDO_0010572 occipital horn syndrome cystic fibrosis http://purl.obolibrary.org/obo/MONDO_0009061 cystic fibrosis -cytochrome-c oxidase deficiency disease http://purl.obolibrary.org/obo/MONDO_0009068 cytochrome-c oxidase deficiency disease deficiency of ferroxidase http://purl.obolibrary.org/obo/MONDO_0011426 aceruloplasminemia deficiency of malonyl-coa decarboxylase http://purl.obolibrary.org/obo/MONDO_0009556 malonic aciduria deficiency of udpglucose-hexose-1-phosphate uridylyltransferase http://purl.obolibrary.org/obo/MONDO_0009258 classic galactosemia @@ -187,7 +184,7 @@ developmental and epileptic encephalopathy, 53 http://purl.obolibrary.org/obo/MO developmental and epileptic encephalopathy, 7 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 8 http://purl.obolibrary.org/obo/MONDO_0010375 developmental and epileptic encephalopathy, 8 diamond-blackfan anemia 10 http://www.orpha.net/ORDO/Orphanet_124 Diamond-Blackfan anemia -dicer1 syndrome http://purl.obolibrary.org/obo/MONDO_0100216 DICER1-related tumor predisposition +dicer1-related tumor predisposition http://purl.obolibrary.org/obo/MONDO_0100216 dicer1-related tumor predisposition digeorge syndrome http://purl.obolibrary.org/obo/MONDO_0018923 22q11.2 deletion syndrome dilated cardiomyopathy 1d http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction dilated cardiomyopathy 1dd http://purl.obolibrary.org/obo/MONDO_0013168 dilated cardiomyopathy 1dd @@ -199,9 +196,7 @@ dilated cardiomyopathy 1w http://purl.obolibrary.org/obo/MONDO_0012667 dilated c dilated cardiomyopathy, dominant http://www.ebi.ac.uk/efo/EFO_0009142 autosomal dominant dilated cardiomyopathy dock2 deficiency http://purl.obolibrary.org/obo/MONDO_0014637 dock2 deficiency duchenne muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010679 duchenne muscular dystrophy -ductal breast carcinoma http://www.ebi.ac.uk/efo/EFO_0006318 breast ductal adenocarcinoma dyrk1a-related intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0013578 dyrk1a-related intellectual disability syndrome -dyskeratosis congenita, autosomal dominant 2 http://purl.obolibrary.org/obo/MONDO_0013521 dyskeratosis congenita, autosomal dominant 2 dyskeratosis congenita, autosomal recessive 5 http://purl.obolibrary.org/obo/MONDO_0014076 dyskeratosis congenita, autosomal recessive 5 dystonic disorder http://purl.obolibrary.org/obo/MONDO_0003441 dystonic disorder dystrophin deficiency http://purl.obolibrary.org/obo/MONDO_0016147 qualitative or quantitative defects of dystrophin @@ -218,7 +213,6 @@ ehlers-danlos syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0017314 Ehle ellis-van creveld syndrome http://purl.obolibrary.org/obo/MONDO_0009162 ellis-van creveld syndrome emery-dreifuss muscular dystrophy 4, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0013071 emery-dreifuss muscular dystrophy 4, autosomal dominant emery-dreifuss muscular dystrophy 5, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy -endometrial carcinoma http://www.ebi.ac.uk/efo/EFO_1001512 endometrial carcinoma enhanced s-cone syndrome http://purl.obolibrary.org/obo/MONDO_0100288 enhanced s-cone syndrome epidermodysplasia verruciformis http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency http://purl.obolibrary.org/obo/MONDO_0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency @@ -236,6 +230,7 @@ exostoses, multiple, type 2 http://purl.obolibrary.org/obo/MONDO_0007586 exostos exudative vitreoretinopathy 1 http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy factor v deficiency http://purl.obolibrary.org/obo/MONDO_0020586 factor v deficiency familial adenomatous polyposis 1 http://purl.obolibrary.org/obo/MONDO_0021056 familial adenomatous polyposis 1 +familial aplasia of the vermis http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome familial cancer of breast http://purl.obolibrary.org/obo/MONDO_0016419 hereditary breast carcinoma familial cold autoinflammatory syndrome 3 http://purl.obolibrary.org/obo/MONDO_0013766 familial cold autoinflammatory syndrome 3 familial dysautonomia http://www.orpha.net/ORDO/Orphanet_1764 familial dysautonomia @@ -259,12 +254,10 @@ fanconi anemia complementation group j http://purl.obolibrary.org/obo/MONDO_0012 fanconi anemia complementation group o http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia farber lipogranulomatosis http://purl.obolibrary.org/obo/MONDO_0009218 farber lipogranulomatosis fetal akinesia deformation sequence 1 http://purl.obolibrary.org/obo/MONDO_0100101 fetal akinesia deformation sequence 1 -fg syndrome 1 http://purl.obolibrary.org/obo/MONDO_0010590 fg syndrome 1 fibromuscular dysplasia, multifocal http://purl.obolibrary.org/obo/MONDO_0859151 fibromuscular dysplasia, multifocal fragile x syndrome http://purl.obolibrary.org/obo/MONDO_0010383 fragile x syndrome frontometaphyseal dysplasia http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia frontotemporal dementia and/or amyotrophic lateral sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 -fumarase deficiency http://purl.obolibrary.org/obo/MONDO_0011730 fumaric aciduria galactosylceramide beta-galactosidase deficiency http://purl.obolibrary.org/obo/MONDO_0009499 Krabbe disease generalized epilepsy with febrile seizures plus, type 2 http://purl.obolibrary.org/obo/MONDO_0011461 generalized epilepsy with febrile seizures plus, type 2 generalized epilepsy with febrile seizures plus, type 7 http://purl.obolibrary.org/obo/MONDO_0013470 generalized epilepsy with febrile seizures plus, type 7 @@ -305,7 +298,6 @@ hermansky-pudlak syndrome 5 http://purl.obolibrary.org/obo/MONDO_0019312 Hermans herpes simplex encephalitis, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013920 herpes simplex encephalitis, susceptibility to, 3 herpes simplex encephalitis, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0013921 herpes simplex encephalitis, susceptibility to, 4 heterotopia, periventricular, x-linked dominant http://purl.obolibrary.org/obo/MONDO_0010233 heterotopia, periventricular, x-linked dominant -history of neurodevelopmental disorder http://www.ebi.ac.uk/efo/EFO_0021798 history of neurodevelopmental disorder holoprosencephaly 5 http://purl.obolibrary.org/obo/MONDO_0012322 holoprosencephaly 5 holoprosencephaly sequence http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly hyperaldosteronism, familial, type iv http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism @@ -331,7 +323,6 @@ hypogonadotropic hypogonadism 3 with or without anosmia http://purl.obolibrary.o hypokalemic periodic paralysis, type 1 http://purl.obolibrary.org/obo/MONDO_0042979 hypokalemic periodic paralysis, type 1 hypokalemic periodic paralysis, type 2 http://purl.obolibrary.org/obo/MONDO_0008223 hypokalemic periodic paralysis idiopathic generalized epilepsy http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy -idiopathic pulmonary fibrosis http://www.ebi.ac.uk/efo/EFO_0000768 idiopathic pulmonary fibrosis immunodeficiency http://purl.obolibrary.org/obo/HP_0002721 immunodeficiency immunodeficiency 19 http://purl.obolibrary.org/obo/MONDO_0014280 immunodeficiency 19 immunodeficiency 23 http://purl.obolibrary.org/obo/MONDO_0014353 immunodeficiency 23 @@ -357,7 +348,6 @@ isolated focal non-epidermolytic palmoplantar keratoderma http://www.orpha.net/O isolated neonatal sclerosing cholangitis http://www.ebi.ac.uk/efo/EFO_0004268 sclerosing cholangitis isolated thoracic aortic aneurysm http://www.ebi.ac.uk/efo/EFO_0004282 thoracic aortic aneurysm jeune thoracic dystrophy http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome -joubert syndrome http://purl.obolibrary.org/obo/MONDO_0018772 joubert syndrome joubert syndrome 2 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 25 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 38 http://purl.obolibrary.org/obo/MONDO_0030353 joubert syndrome 38 @@ -408,6 +398,7 @@ microcephaly, normal intelligence and immunodeficiency http://purl.obolibrary.or microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome http://www.ebi.ac.uk/efo/EFO_0009647 epilepsy, hearing loss, and intellectual disability syndrome migraine, familial hemiplegic, 3 http://purl.obolibrary.org/obo/MONDO_0012320 migraine, familial hemiplegic, 3 mitochondrial complex i deficiency, nuclear type 1 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex iv deficiency, nuclear type 1 http://purl.obolibrary.org/obo/MONDO_0859160 mitochondrial complex IV deficiency, nuclear type 22 monogenic diabetes http://www.ebi.ac.uk/efo/EFO_1001511 monogenic diabetes mucopolysaccharidosis type 6 http://purl.obolibrary.org/obo/MONDO_0009661 mucopolysaccharidosis type 6 mucopolysaccharidosis type 7 http://purl.obolibrary.org/obo/MONDO_0009662 mucopolysaccharidosis type 7 @@ -430,7 +421,6 @@ nephronophthisis http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis nephronophthisis 15 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis nephrotic syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome -netherton syndrome http://purl.obolibrary.org/obo/MONDO_0009735 netherton syndrome neu-laxova syndrome 2 http://purl.obolibrary.org/obo/MONDO_0014466 neu-laxova syndrome 2 neuroblastoma, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0700041 neuroblastoma, susceptibility to, 2 neuroblastoma, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013083 neuroblastoma, susceptibility to, 3 @@ -468,12 +458,11 @@ peroxisome biogenesis disorder 10a (zellweger) http://purl.obolibrary.org/obo/MO peroxisome biogenesis disorder 5a (zellweger) http://purl.obolibrary.org/obo/MONDO_0013932 peroxisome biogenesis disorder 5a (zellweger) perry syndrome http://purl.obolibrary.org/obo/MONDO_0008201 perry syndrome peutz-jeghers syndrome http://purl.obolibrary.org/obo/MONDO_0008280 peutz-jeghers syndrome -pgm1-cdg http://purl.obolibrary.org/obo/MONDO_0013968 PGM1-congenital disorder of glycosylation +pgm1-congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0013968 pgm1-congenital disorder of glycosylation pharc syndrome http://purl.obolibrary.org/obo/MONDO_0012984 pharc syndrome phgdh deficiency http://purl.obolibrary.org/obo/MONDO_0011152 phgdh deficiency pierpont syndrome http://purl.obolibrary.org/obo/MONDO_0011213 pierpont syndrome pigmentary retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0007639 fundus albipunctatus -pineal hyperplasia and diabetes mellitus syndrome http://purl.obolibrary.org/obo/MONDO_0009874 Rabson-Mendenhall syndrome pitt-hopkins syndrome http://purl.obolibrary.org/obo/MONDO_0012589 pitt-hopkins syndrome pituitary stalk interruption syndrome http://purl.obolibrary.org/obo/MONDO_0019828 pituitary stalk interruption syndrome pityriasis rubra pilaris http://purl.obolibrary.org/obo/MONDO_0100017 pityriasis rubra pilaris @@ -498,12 +487,12 @@ prolidase deficiency http://purl.obolibrary.org/obo/MONDO_0008221 prolidase defi propionic acidemia http://purl.obolibrary.org/obo/MONDO_0011628 propionic acidemia prostate cancer, hereditary, 1 http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer protoporphyria, erythropoietic, 1 http://purl.obolibrary.org/obo/MONDO_0019263 autosomal erythropoietic protoporphyria -pseudoxanthoma elasticum http://www.orpha.net/ORDO/Orphanet_758 pseudoxanthoma elasticum psoriasis 2 http://purl.obolibrary.org/obo/MONDO_0011269 psoriasis 2 pten hamartoma tumor syndrome http://purl.obolibrary.org/obo/MONDO_0017623 pten hamartoma tumor syndrome pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 http://purl.obolibrary.org/obo/MONDO_0014613 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/MONDO_0024533 pulmonary hypertension, primary, 1 pyogenic bacterial infections due to myd88 deficiency http://purl.obolibrary.org/obo/MONDO_0012839 pyogenic bacterial infections due to myd88 deficiency +rabson-mendenhall syndrome http://purl.obolibrary.org/obo/MONDO_0009874 rabson-mendenhall syndrome rasopathy http://www.ebi.ac.uk/efo/EFO_1001502 rasopathy renal cell carcinoma http://www.ebi.ac.uk/efo/EFO_0000681 renal cell carcinoma retinal degeneration http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration @@ -527,7 +516,6 @@ saldino-mainzer syndrome http://purl.obolibrary.org/obo/MONDO_0009964 short-rib schimke immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0009458 schimke immuno-osseous dysplasia schnyder crystalline corneal dystrophy http://purl.obolibrary.org/obo/MONDO_0007374 Schnyder corneal dystrophy schwartz-jampel syndrome http://purl.obolibrary.org/obo/MONDO_0009717 schwartz-jampel syndrome -seizure http://purl.obolibrary.org/obo/HP_0001250 seizure seizures, benign familial infantile, 3 http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures septo-optic dysplasia sequence http://purl.obolibrary.org/obo/MONDO_0008428 septooptic dysplasia septo-optic dysplasia sequence http://www.orpha.net/ORDO/Orphanet_3157 Septo-optic dysplasia spectrum @@ -540,7 +528,7 @@ short rib-polydactyly syndrome http://purl.obolibrary.org/obo/MONDO_0015461 shor short stature http://purl.obolibrary.org/obo/HP_0004322 short stature singleton-merten syndrome 1 http://purl.obolibrary.org/obo/MONDO_0024535 singleton-merten syndrome 1 skeletal dysplasia, mild, with joint laxity and advanced bone age http://purl.obolibrary.org/obo/MONDO_0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age -sotos syndrome 1 http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome +sotos syndrome http://purl.obolibrary.org/obo/MONDO_0019349 sotos syndrome spastic ataxia 2 http://purl.obolibrary.org/obo/MONDO_0012651 spastic ataxia 2 spastic paraplegia http://purl.obolibrary.org/obo/HP_0001258 spastic paraplegia spastic paraplegia-severe developmental delay-epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome @@ -559,7 +547,7 @@ teebi hypertelorism syndrome 1 http://purl.obolibrary.org/obo/MONDO_0800025 teeb telangiectasia, hereditary hemorrhagic, type 1 http://purl.obolibrary.org/obo/MONDO_0008535 telangiectasia, hereditary hemorrhagic, type 1 thrombophilia due to protein c deficiency, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019145 hereditary thrombophilia due to congenital protein C deficiency tibial muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010870 tibial muscular dystrophy -toe walking http://purl.obolibrary.org/obo/HP_0030051 Tip-toe gait +tip-toe gait http://purl.obolibrary.org/obo/HP_0030051 tip-toe gait tooth agenesis, selective, 3 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis tp63-related spectrum disorders http://www.ebi.ac.uk/efo/EFO_0022486 tp63-related spectrum disorders transcobalamin ii deficiency http://purl.obolibrary.org/obo/MONDO_0010149 transcobalamin ii deficiency diff --git a/tests/pipelines/resources/expected/consequences_repeat.tsv b/tests/pipelines/resources/expected/consequences_repeat.tsv index d073d9e6..b4c0cb93 100644 --- a/tests/pipelines/resources/expected/consequences_repeat.tsv +++ b/tests/pipelines/resources/expected/consequences_repeat.tsv @@ -53,9 +53,7 @@ RCV001951015 ENSG00000160224 AIRE short_tandem_repeat_expansion RCV001959159 ENSG00000134480 CCNH short_tandem_repeat_expansion RCV001959159 ENSG00000145715 RASA1 short_tandem_repeat_expansion RCV001974720 ENSG00000116127 ALMS1 short_tandem_repeat_expansion -RCV001978896 ENSG00000091483 FH short_tandem_repeat_expansion RCV001994464 ENSG00000151914 DST short_tandem_repeat_expansion -RCV002032970 ENSG00000184634 MED12 short_tandem_repeat_expansion RCV002072920 ENSG00000123607 TTC21B short_tandem_repeat_expansion RCV002094328 ENSG00000148677 ANKRD1 short_tandem_repeat_expansion RCV002113000 ENSG00000102901 CENPT short_tandem_repeat_expansion @@ -124,7 +122,6 @@ RCV001051882 ENSG00000130711 PRDM12 trinucleotide_repeat_expansion RCV001266493 ENSG00000092054 MYH7 trinucleotide_repeat_expansion RCV001323067 ENSG00000149930 TAOK2 trinucleotide_repeat_expansion RCV001376222 ENSG00000105618 PRPF31 trinucleotide_repeat_expansion -RCV001376222 ENSG00000237017 PRPF31-AS1 trinucleotide_repeat_expansion RCV001410350 ENSG00000129757 CDKN1C trinucleotide_repeat_expansion RCV001454495 ENSG00000129757 CDKN1C trinucleotide_repeat_expansion RCV001556398 ENSG00000157764 BRAF trinucleotide_repeat_expansion diff --git a/tests/pipelines/resources/expected/consequences_snp.tsv b/tests/pipelines/resources/expected/consequences_snp.tsv index 885c7542..650393af 100644 --- a/tests/pipelines/resources/expected/consequences_snp.tsv +++ b/tests/pipelines/resources/expected/consequences_snp.tsv @@ -7,7 +7,6 @@ 10:110781819:G:A ENSG00000203867 RBM20 missense_variant 10:110812366:TC:AG ENSG00000203867 RBM20 synonymous_variant 10:110964529:C:T ENSG00000108061 SHOC2 synonymous_variant -10:119159734:TG:CT ENSG00000183605 SFXN4 missense_variant 10:12101135:A:C ENSG00000181192 DHTKD1 missense_variant 10:124405545:C:G ENSG00000065154 OAT missense_variant 10:27077265:T:C ENSG00000107890 ANKRD26 intron_variant @@ -56,14 +55,12 @@ 11:108229236:G:A ENSG00000149311 ATM missense_variant 11:108243952:G:A ENSG00000149311 ATM splice_acceptor_variant 11:108251072:G:T ENSG00000149311 ATM missense_variant -11:108271287:T:G ENSG00000149311 ATM synonymous_variant 11:108281079:T:TC ENSG00000149311 ATM frameshift_variant 11:108294920:C:CTTTTAGTTACATTTACATTTTAGTTAA ENSG00000149311 ATM splice_region_variant 11:108329071:A:G ENSG00000149311 ATM synonymous_variant 11:108329071:A:G ENSG00000166323 C11orf65 intron_variant 11:108343368:G:A ENSG00000149311 ATM missense_variant 11:108343368:G:A ENSG00000166323 C11orf65 intron_variant -11:111911666:G:C ENSG00000109846 CRYAB missense_variant 11:117363444:A:G ENSG00000110274 CEP164 missense_variant 11:118176942:T:C ENSG00000149575 SCN2B upstream_gene_variant 11:118340537:T:C ENSG00000167286 CD3D missense_variant @@ -98,7 +95,6 @@ 11:61393907:GCTAAC:G ENSG00000187049 TMEM216 frameshift_variant 11:6393961:A:C ENSG00000166311 SMPD1 missense_variant 11:64753097:G:A ENSG00000068976 PYGM synonymous_variant -11:64807023:G:A ENSG00000133895 MEN1 synonymous_variant 11:6571968:C:T ENSG00000179532 DNHD1 synonymous_variant 11:66025840:G:GA ENSG00000175294 CATSPER1 frameshift_variant 11:6614868:CAA:C ENSG00000166340 TPP1 frameshift_variant @@ -131,7 +127,6 @@ 12:123712053:T:TCACACACACACA ENSG00000185344 ATP6V0A2 upstream_gene_variant 12:123712059:T:TCACACACACACA ENSG00000185344 ATP6V0A2 upstream_gene_variant 12:131941413:C:T ENSG00000177192 PUS1 synonymous_variant -12:132625692:C:G ENSG00000177084 POLE missense_variant 12:132632644:A:T ENSG00000177084 POLE intron_variant 12:132659463:T:A ENSG00000177084 POLE missense_variant 12:132677582:TG:T ENSG00000177084 POLE frameshift_variant @@ -187,7 +182,6 @@ 13:32354926:C:G ENSG00000139618 BRCA2 missense_variant 13:32362694:G:A ENSG00000139618 BRCA2 splice_donor_variant 13:32380118:T:C ENSG00000139618 BRCA2 missense_variant -13:32394803:A:T ENSG00000139618 BRCA2 missense_variant 13:32394814:C:T ENSG00000139618 BRCA2 stop_gained 13:32394828:A:G ENSG00000139618 BRCA2 synonymous_variant 13:32398296:C:T ENSG00000139618 BRCA2 synonymous_variant @@ -302,7 +296,6 @@ 16:3254642:C:G ENSG00000103313 MEFV synonymous_variant 16:3757313:C:T ENSG00000005339 CREBBP missense_variant 16:50710770:C:T ENSG00000167207 NOD2 missense_variant -16:50723304:G:A ENSG00000167207 NOD2 synonymous_variant 16:54111871:A:G ENSG00000140718 FTO missense_variant 16:56485590:C:CCCGCAGACGACCTGCT ENSG00000125124 BBS2 frameshift_variant 16:57957381:C:A ENSG00000070729 CNGB1 splice_region_variant @@ -355,7 +348,6 @@ 17:31201471:C:T ENSG00000196712 NF1 stop_gained 17:31225257:T:C ENSG00000196712 NF1 splice_region_variant 17:31226668:C:T ENSG00000196712 NF1 synonymous_variant -17:31232690:T:C ENSG00000196712 NF1 splice_polypyrimidine_tract_variant 17:31358463:CT:C ENSG00000196712 NF1 splice_polypyrimidine_tract_variant 17:35103291:A:G ENSG00000185379 RAD51D missense_variant 17:3513833:C:T ENSG00000141255 SPATA22 5_prime_UTR_variant @@ -448,7 +440,6 @@ 18:31521110:C:T ENSG00000046604 DSG2 synonymous_variant 18:31545746:A:C ENSG00000046604 DSG2 missense_variant 18:31547162:G:T ENSG00000046604 DSG2 3_prime_UTR_variant -18:3215133:G:T ENSG00000101605 MYOM1 synonymous_variant 18:36199892:C:T ENSG00000075643 MOCOS missense_variant 18:46529203:G:A ENSG00000167210 LOXHD1 missense_variant 18:49980469:C:T ENSG00000167306 MYO5B missense_variant @@ -588,9 +579,6 @@ 1:231421372:G:A ENSG00000135766 EGLN1 synonymous_variant 1:235808563:A:C ENSG00000143669 LYST missense_variant 1:236838479:G:A ENSG00000116984 MTR synonymous_variant -1:237445471:G:A ENSG00000198626 RYR2 missense_variant -1:237614188:A:C ENSG00000198626 RYR2 missense_variant -1:237806124:T:C ENSG00000198626 RYR2 splice_polypyrimidine_tract_variant 1:240093186:G:A ENSG00000155816 FMN2 synonymous_variant 1:241500602:T:TGAGAGAGAGAGAGAGAGAGA ENSG00000091483 FH splice_polypyrimidine_tract_variant 1:243573016:G:A ENSG00000117020 AKT3 synonymous_variant @@ -600,7 +588,6 @@ 1:3847559:T:G ENSG00000116198 CEP104 missense_variant 1:39361388:A:G ENSG00000127603 MACF1 missense_variant 1:40281517:CTAAAGT:C ENSG00000084073 ZMPSTE24 inframe_deletion -1:43424857:A:G ENSG00000198198 SZT2 missense_variant 1:43439643:G:C ENSG00000198198 SZT2 missense_variant 1:43736385:G:A ENSG00000126091 ST3GAL3 splice_donor_5th_base_variant 1:43920904:C:T ENSG00000126091 ST3GAL3 synonymous_variant @@ -685,7 +672,6 @@ 22:31133156:G:A ENSG00000185133 INPP5J missense_variant 22:31838830:C:G ENSG00000100150 DEPDC5 missense_variant 22:31879595:G:C ENSG00000100150 DEPDC5 missense_variant -22:31893674:G:A ENSG00000100150 DEPDC5 missense_variant 22:37089779:C:T ENSG00000187045 TMPRSS6 missense_variant 22:37724732:C:T ENSG00000100106 TRIOBP stop_gained 22:40927070:C:T ENSG00000196236 XPNPEP3 3_prime_UTR_variant @@ -694,7 +680,6 @@ 22:43964455:G:A ENSG00000100347 SAMM50 missense_variant 22:46355522:C:G ENSG00000100416 TRMU missense_variant 22:50221806:G:C ENSG00000128159 TUBGCP6 missense_variant -22:50581412:T:A ENSG00000100288 CHKB splice_region_variant 22:50628124:C:G ENSG00000100299 ARSA 5_prime_UTR_variant 2:112010040:T:C ENSG00000153208 MERTK missense_variant 2:113242674:G:A ENSG00000125618 PAX8 intron_variant @@ -723,13 +708,11 @@ 2:166375738:C:A ENSG00000169432 SCN9A 5_prime_UTR_variant 2:176093057:G:GGGCGGCGGC ENSG00000128714 HOXD13 inframe_insertion 2:177231289:T:G ENSG00000116044 NFE2L2 missense_variant -2:178543550:G:A ENSG00000155657 TTN synonymous_variant 2:178546776:A:G ENSG00000155657 TTN missense_variant 2:178564195:C:T ENSG00000155657 TTN missense_variant 2:178566906:C:T ENSG00000155657 TTN missense_variant 2:178568853:T:C ENSG00000155657 TTN missense_variant 2:178570877:A:G ENSG00000155657 TTN synonymous_variant -2:178572020:A:G ENSG00000155657 TTN synonymous_variant 2:178573906:A:C ENSG00000155657 TTN missense_variant 2:178574524:C:T ENSG00000155657 TTN missense_variant 2:178601277:TG:T ENSG00000155657 TTN frameshift_variant @@ -746,7 +729,6 @@ 2:178782223:G:A ENSG00000155657 TTN synonymous_variant 2:181604002:G:T ENSG00000188452 CERKL missense_variant 2:188992883:T:G ENSG00000168542 COL3A1 splice_region_variant -2:188994044:C:T ENSG00000168542 COL3A1 missense_variant 2:188999367:G:A ENSG00000168542 COL3A1 missense_variant 2:189010227:G:A ENSG00000168542 COL3A1 synonymous_variant 2:196865000:A:G ENSG00000197121 PGAP1 synonymous_variant @@ -774,7 +756,6 @@ 2:240767003:G:A ENSG00000130294 KIF1A synonymous_variant 2:240786220:G:A ENSG00000130294 KIF1A intron_variant 2:26190873:GAC:G ENSG00000084754 HADHA 3_prime_UTR_variant -2:26450005:A:C ENSG00000157856 DRC1 missense_variant 2:26454671:A:G ENSG00000157856 DRC1 synonymous_variant 2:26473171:G:A ENSG00000115155 OTOF missense_variant 2:26476223:T:C ENSG00000115155 OTOF missense_variant @@ -783,7 +764,6 @@ 2:27380181:G:A ENSG00000163795 ZNF513 synonymous_variant 2:29193462:G:C ENSG00000115295 CLIP4 intron_variant 2:29193462:G:C ENSG00000171094 ALK missense_variant -2:29223515:C:T ENSG00000171094 ALK synonymous_variant 2:32136930:A:G ENSG00000021574 SPAST missense_variant 2:39120324:C:A ENSG00000115904 SOS1 intron_variant 2:44326835:C:T ENSG00000138078 PREPL synonymous_variant @@ -797,8 +777,6 @@ 2:47799008:C:G ENSG00000138081 FBXO11 intron_variant 2:47800172:A:G ENSG00000116062 MSH6 missense_variant 2:47800172:A:G ENSG00000138081 FBXO11 intron_variant -2:47805024:T:G ENSG00000116062 MSH6 missense_variant -2:47805024:T:G ENSG00000138081 FBXO11 intron_variant 2:47805638:G:A ENSG00000116062 MSH6 missense_variant 2:47805638:G:A ENSG00000138081 FBXO11 intron_variant 2:61839969:A:AG ENSG00000170264 FAM161A frameshift_variant @@ -830,7 +808,6 @@ 3:123640393:G:C ENSG00000065534 MYLK missense_variant 3:128481940:GC:G ENSG00000179348 GATA2 frameshift_variant 3:128486118:G:A ENSG00000179348 GATA2 synonymous_variant -3:128806548:A:G ENSG00000075785 RAB7A synonymous_variant 3:129476350:C:G ENSG00000163913 IFT122 missense_variant 3:129476757:G:A ENSG00000163913 IFT122 missense_variant 3:129532306:C:A ENSG00000163914 RHO missense_variant @@ -861,15 +838,12 @@ 3:37025958:G:C ENSG00000076242 MLH1 missense_variant 3:38140571:T:C ENSG00000172936 MYD88 missense_variant 3:38566522:C:T ENSG00000183873 SCN5A missense_variant -3:38585690:C:A ENSG00000183873 SCN5A splice_donor_variant 3:38722326:G:A ENSG00000185313 SCN10A missense_variant 3:38726721:G:A ENSG00000185313 SCN10A missense_variant -3:4417143:G:A ENSG00000144455 SUMF1 synonymous_variant 3:45758959:C:T ENSG00000163817 SLC6A20 3_prime_UTR_variant 3:45967491:G:A ENSG00000163820 FYCO1 missense_variant 3:45967999:C:T ENSG00000163820 FYCO1 synonymous_variant 3:4681629:G:GTGTGTGTGTGTGTA ENSG00000150995 ITPR1 intron_variant -3:47019844:A:C ENSG00000181555 SETD2 splice_region_variant 3:47121932:C:G ENSG00000181555 SETD2 missense_variant 3:47126814:C:CA ENSG00000181555 SETD2 intron_variant 3:47412853:C:T ENSG00000076201 PTPN23 missense_variant @@ -921,24 +895,18 @@ 4:64314512:T:C ENSG00000205678 TECRL intron_variant 4:99574660:T:C ENSG00000138823 MTTP intron_variant 5:10356343:A:ATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT ENSG00000145495 MARCHF6 intron_variant -5:112707390:G:C ENSG00000134982 APC upstream_gene_variant 5:112792518:A:G ENSG00000134982 APC missense_variant 5:112815536:G:C ENSG00000134982 APC missense_variant 5:112821966:G:C ENSG00000134982 APC missense_variant -5:112827094:C:A ENSG00000134982 APC splice_polypyrimidine_tract_variant 5:112827194:C:T ENSG00000134982 APC stop_gained -5:112838046:A:T ENSG00000134982 APC missense_variant 5:112838104:C:T ENSG00000134982 APC missense_variant -5:112839444:G:T ENSG00000134982 APC stop_gained 5:112841870:A:G ENSG00000134982 APC synonymous_variant 5:112843065:A:G ENSG00000134982 APC missense_variant 5:112843571:G:A ENSG00000134982 APC synonymous_variant 5:119471660:T:C ENSG00000133835 HSD17B4 synonymous_variant 5:119526284:A:ATATATATATATG ENSG00000133835 HSD17B4 intron_variant -5:1268591:G:A ENSG00000164362 TERT synonymous_variant 5:127459867:G:C ENSG00000145794 MEGF10 3_prime_UTR_variant 5:128408737:C:T ENSG00000138829 FBN2 missense_variant -5:1293861:C:T ENSG00000164362 TERT missense_variant 5:132588712:C:T ENSG00000113522 RAD50 synonymous_variant 5:132591266:A:G ENSG00000113522 RAD50 missense_variant 5:132591382:A:G ENSG00000113522 RAD50 synonymous_variant @@ -949,7 +917,6 @@ 5:141573996:T:TGGAGGAGGAGGAGGA ENSG00000131504 DIAPH1 inframe_insertion 5:141579091:C:T ENSG00000131504 DIAPH1 synonymous_variant 5:14751257:G:C ENSG00000154122 ANKH intron_variant -5:148104939:C:T ENSG00000133710 SPINK5 splice_polypyrimidine_tract_variant 5:149007085:T:C ENSG00000169247 SH3TC2 splice_region_variant 5:149026872:G:A ENSG00000169247 SH3TC2 stop_gained 5:149982709:A:G ENSG00000155850 SLC26A2 3_prime_UTR_variant @@ -965,7 +932,6 @@ 5:172454002:A:G ENSG00000174705 SH3PXD2B intron_variant 5:177294944:C:T ENSG00000165671 NSD1 missense_variant 5:223538:C:T ENSG00000073578 SDHA synonymous_variant -5:36955467:A:C ENSG00000164190 NIPBL splice_region_variant 5:37060996:G:GTA ENSG00000164190 NIPBL frameshift_variant 5:45695795:G:A ENSG00000164588 HCN1 missense_variant 5:62381260:C:CTTTTTCCATTTTT ENSG00000068796 KIF2A splice_region_variant @@ -1076,15 +1042,11 @@ 7:21543110:T:G ENSG00000105877 DNAH11 5_prime_UTR_variant 7:21563983:G:A ENSG00000105877 DNAH11 intron_variant 7:33383835:T:TGAGAAATTATTCATTG ENSG00000122507 BBS9 frameshift_variant -7:37850708:C:T ENSG00000086288 NME8 synonymous_variant 7:44220806:C:A ENSG00000058404 CAMK2B intron_variant -7:45038463:C:T ENSG00000136280 CCM2 intron_variant 7:4794226:A:G ENSG00000242802 AP5Z1 3_prime_UTR_variant 7:55174034:G:C ENSG00000146648 EGFR synonymous_variant 7:55174749:G:T ENSG00000146648 EGFR missense_variant -7:5986974:A:C ENSG00000122512 PMS2 synonymous_variant 7:5987233:G:A ENSG00000122512 PMS2 missense_variant -7:5997388:AGGGGG:A ENSG00000122512 PMS2 frameshift_variant 7:6004064:A:G ENSG00000122512 PMS2 splice_region_variant 7:65964382:C:A ENSG00000169919 GUSB missense_variant 7:74060431:C:CCCTGGACTTGGAGTTGGTGCTGGTGTT ENSG00000049540 ELN inframe_insertion @@ -1172,7 +1134,6 @@ 9:136496841:C:T ENSG00000148400 NOTCH1 missense_variant 9:136505739:G:A ENSG00000148400 NOTCH1 missense_variant 9:137012299:G:C ENSG00000107331 ABCA2 missense_variant -9:137834396:C:T ENSG00000181090 EHMT1 synonymous_variant 9:27202988:C:T ENSG00000120156 TEK missense_variant 9:27206796:A:G ENSG00000120156 TEK splice_donor_region_variant 9:27547172:T:C ENSG00000147894 C9orf72 3_prime_UTR_variant @@ -1196,7 +1157,6 @@ 9:95978228:T:C ENSG00000182150 ERCC6L2 intron_variant 9:977295:G:C ENSG00000064218 DMRT3 synonymous_variant 9:98708574:G:C ENSG00000136928 GABBR2 missense_variant -9:98840095:C:T ENSG00000119514 GALNT12 synonymous_variant 9:99153772:C:A ENSG00000106799 TGFBR1 3_prime_UTR_variant MT:1438:A:G ENSG00000198763 MT-ND2 upstream_gene_variant MT:1438:A:G ENSG00000198804 MT-CO1 upstream_gene_variant @@ -1216,7 +1176,6 @@ X:10220769:G:A ENSG00000073464 CLCN4 missense_variant X:108161728:T:C ENSG00000197565 COL4A6 synonymous_variant X:108695347:C:T ENSG00000188153 COL4A5 synonymous_variant X:111728246:G:A ENSG00000101901 ALG13 missense_variant -X:134377702:G:T ENSG00000156531 PHF6 stop_gained X:136206494:A:G ENSG00000022267 FHL1 missense_variant X:147912049:C:CGCGGCGGCGGCGGCG ENSG00000102081 FMR1 5_prime_UTR_variant X:147912049:C:CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG ENSG00000102081 FMR1 5_prime_UTR_variant @@ -1228,7 +1187,6 @@ X:15321727:G:A ENSG00000165195 PIGA stop_gained X:153725899:C:G ENSG00000101986 ABCD1 synonymous_variant X:154029506:A:C ENSG00000169057 MECP2 3_prime_UTR_variant X:154030523:C:T ENSG00000169057 MECP2 synonymous_variant -X:154030711:A:G ENSG00000169057 MECP2 missense_variant X:154354843:G:A ENSG00000196924 FLNA synonymous_variant X:154359501:C:T ENSG00000196924 FLNA synonymous_variant X:154532625:C:T ENSG00000160211 G6PD missense_variant @@ -1237,7 +1195,6 @@ X:22245412:A:T ENSG00000102174 PHEX splice_donor_region_variant X:25013011:CTGTT:C ENSG00000004848 ARX frameshift_variant X:29955647:C:G ENSG00000169306 IL1RAPL1 missense_variant X:31478117:C:T ENSG00000198947 DMD missense_variant -X:31478313:C:T ENSG00000198947 DMD synonymous_variant X:31679432:T:A ENSG00000198947 DMD synonymous_variant X:31679530:G:A ENSG00000198947 DMD stop_gained X:32343306:T:A ENSG00000198947 DMD intron_variant @@ -1254,7 +1211,6 @@ X:63674039:T:G ENSG00000131089 ARHGEF9 missense_variant X:65523665:C:A ENSG00000001497 LAS1L missense_variant X:67545316:T:TGCAGCAGCAGCA ENSG00000169083 AR inframe_insertion X:69616478:CGTT:C ENSG00000158813 EDA inframe_deletion -X:71141227:T:TAGCAGCAGCAGCAACAGCAACAGCAGCAGC ENSG00000184634 MED12 splice_region_variant X:71224264:A:T ENSG00000169562 GJB1 missense_variant X:71366476:G:A ENSG00000147133 TAF1 synonymous_variant X:71393339:G:A ENSG00000147133 TAF1 synonymous_variant diff --git a/tests/pipelines/resources/expected/consequences_structural.tsv b/tests/pipelines/resources/expected/consequences_structural.tsv index 3e69fd8e..9c6e3f05 100644 --- a/tests/pipelines/resources/expected/consequences_structural.tsv +++ b/tests/pipelines/resources/expected/consequences_structural.tsv @@ -1,10 +1,22 @@ -NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT ENSG00000183098 GPC6 feature_truncation -NC_000013.11:g.94252984_94352299del99316insCTA ENSG00000183098 GPC6 feature_truncation -NC_000014.9:g.91881408_91904133dup ENSG00000140092 FBLN5 feature_elongation NC_000012.12:g.109581396_109581551del ENSG00000110921 MVK stop_lost -NC_000001.11:g.1696548_1732685del ENSG00000008128 CDK11A transcript_ablation NC_000001.11:g.49462391_49524663del ENSG00000186094 AGBL4 intron_variant NC_000003.12:g.89335416_89368021del ENSG00000044524 EPHA3 feature_truncation +NC_000017.11:g.79369452_79395919dup ENSG00000167281 RBFOX3 intron_variant +NC_000002.12:g.32113664_32125322del ENSG00000021574 SPAST feature_truncation +NC_000021.9:g.21045800_21077901del ENSG00000154654 NCAM2 intron_variant +NC_000008.11:g.19411890_19467180del ENSG00000147408 CSGALNACT1 feature_truncation +NC_000001.11:g.216263262_216311879del ENSG00000042781 USH2A feature_truncation +NC_000023.11:g.32622009_32644156del ENSG00000198947 DMD feature_truncation +NC_000023.11:g.32622009_32644156del ENSG00000221348 MIR548F5 transcript_ablation +NC_000001.11:g.215999483_216183366del ENSG00000042781 USH2A stop_lost +NC_000002.12:g.47439264_47450433del ENSG00000095002 MSH2 stop_lost +NC_000004.12:g.68626601_68646936del ENSG00000196620 UGT2B15 feature_truncation +NC_000003.12:g.113857357_113901499del ENSG00000178075 GRAMD1C feature_truncation +NC_000011.10:g.5433500_5475233dup ENSG00000167359 OR51I1 transcript_amplification +NC_000011.10:g.5433500_5475233dup ENSG00000187918 OR51I2 transcript_amplification +NC_000011.10:g.5433500_5475233dup ENSG00000196565 HBG2 intron_variant +NC_000011.10:g.5433500_5475233dup ENSG00000213931 HBE1 intron_variant +NC_000001.11:g.1696548_1732685del ENSG00000008128 CDK11A transcript_ablation NC_000007.14:g.152176768_152580446dup ENSG00000055609 KMT2C transcript_amplification NC_000017.11:g.3602749_3678945del ENSG00000040531 CTNS transcript_ablation NC_000017.11:g.3602749_3678945del ENSG00000083454 P2RX5 stop_lost @@ -16,7 +28,9 @@ NC_000017.11:g.46092442_46502770dup ENSG00000120071 KANSL1 transcript_amplificat NC_000017.11:g.46092442_46502770dup ENSG00000176681 LRRC37A transcript_amplification NC_000017.11:g.46092442_46502770dup ENSG00000185829 ARL17A 3_prime_UTR_variant NC_000017.11:g.46092442_46502770dup ENSG00000228696 ARL17B transcript_amplification -NC_000017.11:g.79369452_79395919dup ENSG00000167281 RBFOX3 intron_variant +NC_000023.11:g.154015897_154030807del ENSG00000169057 MECP2 stop_lost +NC_000023.11:g.154015897_154030807del ENSG00000184216 IRAK1 feature_truncation +NC_000023.11:g.154015897_154030807del ENSG00000284286 MIR718 transcript_ablation NC_000014.9:g.95696766_96390792dup ENSG00000066739 ATG2B transcript_amplification NC_000014.9:g.95696766_96390792dup ENSG00000100721 TCL1A transcript_amplification NC_000014.9:g.95696766_96390792dup ENSG00000100739 BDKRB1 transcript_amplification @@ -26,7 +40,33 @@ NC_000014.9:g.95696766_96390792dup ENSG00000227051 C14orf132 transcript_amplific NC_000014.9:g.95696766_96390792dup ENSG00000250366 TUNAR transcript_amplification NC_000002.12:g.32147746_32173488del ENSG00000021574 SPAST stop_lost NC_000002.12:g.32147746_32173488del ENSG00000152683 SLC30A6 feature_truncation -NC_000002.12:g.32113664_32125322del ENSG00000021574 SPAST feature_truncation +NC_000012.12:g.23484745_23564581del ENSG00000134532 SOX5 stop_lost +NC_000014.9:g.78581479_79053758del ENSG00000021645 NRXN3 transcript_ablation +NC_000006.12:g.5609990_5726136del ENSG00000145982 FARS2 feature_truncation +NC_000001.11:g.45650769_45929717dup ENSG00000086015 MAST2 coding_sequence_variant +NC_000001.11:g.45650769_45929717dup ENSG00000159592 GPBP1L1 coding_sequence_variant +NC_000001.11:g.45650769_45929717dup ENSG00000159596 TMEM69 transcript_amplification +NC_000001.11:g.45650769_45929717dup ENSG00000197429 IPP transcript_amplification +NC_000006.12:g.259881_303298dup ENSG00000112679 DUSP22 coding_sequence_variant +NC_000010.11:g.133438823_133565257del ENSG00000130649 CYP2E1 transcript_ablation +NC_000010.11:g.133438823_133565257del ENSG00000171772 SYCE1 stop_lost +NC_000010.11:g.133438823_133565257del ENSG00000214279 SCART1 transcript_ablation +NC_000007.14:g.1687729_1779914del ENSG00000225968 ELFN1 stop_lost +NC_000014.9:g.87925163_87956828del ENSG00000054983 GALC stop_lost +NC_000015.10:g.51681311_51791472dup ENSG00000104112 SCG3 transcript_amplification +NC_000015.10:g.51681311_51791472dup ENSG00000128872 TMOD2 coding_sequence_variant +NC_000015.10:g.51681311_51791472dup ENSG00000140280 LYSMD2 transcript_amplification +NC_000007.14:g.152052676_152295696del ENSG00000055609 KMT2C transcript_ablation +NC_000007.14:g.152052676_152295696del ENSG00000178234 GALNT11 transcript_ablation +NC_000015.10:g.22723843_23122692dup ENSG00000140157 NIPA2 transcript_amplification +NC_000015.10:g.22723843_23122692dup ENSG00000170113 NIPA1 transcript_amplification +NC_000015.10:g.22723843_23122692dup ENSG00000273749 CYFIP1 transcript_amplification +NC_000015.10:g.22723843_23122692dup ENSG00000275835 TUBGCP5 transcript_amplification +NC_000023.11:g.136487348_136507517dup ENSG00000102239 BRS3 transcript_amplification +NC_000023.11:g.136487348_136507517dup ENSG00000102241 HTATSF1 transcript_amplification +NC_000023.11:g.41506506_41542250del ENSG00000147044 CASK transcript_ablation +NC_000002.12:g.196873396_196873397insTTCT ENSG00000197121 PGAP1 intron_variant +NC_000015.10:g.48428344_48428355del ENSG00000166147 FBN1 feature_truncation NC_000001.11:g.196608263_197002575del ENSG00000000971 CFH transcript_ablation NC_000001.11:g.196608263_197002575del ENSG00000080910 CFHR2 transcript_ablation NC_000001.11:g.196608263_197002575del ENSG00000116785 CFHR3 transcript_ablation @@ -60,49 +100,8 @@ NC_000017.11:g.9701182_11983353del ENSG00000214978 GSG1L2 transcript_ablation NC_000017.11:g.9701182_11983353del ENSG00000233670 PIRT transcript_ablation NC_000017.11:g.9701182_11983353del ENSG00000263429 TMEM238L transcript_ablation NC_000017.11:g.9701182_11983353del ENSG00000264424 MYH4 transcript_ablation -NC_000012.12:g.23484745_23564581del ENSG00000134532 SOX5 stop_lost -NC_000004.12:g.68626601_68646936del ENSG00000196620 UGT2B15 feature_truncation -NC_000003.12:g.113857357_113901499del ENSG00000178075 GRAMD1C feature_truncation -NC_000014.9:g.78581479_79053758del ENSG00000021645 NRXN3 transcript_ablation -NC_000017.11:g.43081201_43091610del ENSG00000012048 BRCA1 feature_truncation -NC_000002.12:g.47439264_47450433del ENSG00000095002 MSH2 stop_lost NC_000016.10:g.16151250_16167657del ENSG00000091262 ABCC6 feature_truncation -NC_000006.12:g.5609990_5726136del ENSG00000145982 FARS2 feature_truncation -NC_000001.11:g.216263262_216311879del ENSG00000042781 USH2A feature_truncation -NC_000001.11:g.215999483_216183366del ENSG00000042781 USH2A stop_lost -NC_000001.11:g.45650769_45929717dup ENSG00000086015 MAST2 coding_sequence_variant -NC_000001.11:g.45650769_45929717dup ENSG00000159592 GPBP1L1 coding_sequence_variant -NC_000001.11:g.45650769_45929717dup ENSG00000159596 TMEM69 transcript_amplification -NC_000001.11:g.45650769_45929717dup ENSG00000197429 IPP transcript_amplification -NC_000006.12:g.259881_303298dup ENSG00000112679 DUSP22 coding_sequence_variant -NC_000010.11:g.133438823_133565257del ENSG00000130649 CYP2E1 transcript_ablation -NC_000010.11:g.133438823_133565257del ENSG00000171772 SYCE1 stop_lost -NC_000010.11:g.133438823_133565257del ENSG00000214279 SCART1 transcript_ablation -NC_000011.10:g.5433500_5475233dup ENSG00000167359 OR51I1 transcript_amplification -NC_000011.10:g.5433500_5475233dup ENSG00000187918 OR51I2 transcript_amplification -NC_000011.10:g.5433500_5475233dup ENSG00000196565 HBG2 intron_variant -NC_000011.10:g.5433500_5475233dup ENSG00000213931 HBE1 intron_variant -NC_000021.9:g.21045800_21077901del ENSG00000154654 NCAM2 intron_variant -NC_000023.11:g.41506506_41542250del ENSG00000147044 CASK transcript_ablation -NC_000008.11:g.19411890_19467180del ENSG00000147408 CSGALNACT1 feature_truncation -NC_000007.14:g.1687729_1779914del ENSG00000225968 ELFN1 stop_lost -NC_000014.9:g.87925163_87956828del ENSG00000054983 GALC stop_lost -NC_000002.12:g.196873396_196873397insTTCT ENSG00000197121 PGAP1 intron_variant -NC_000015.10:g.51681311_51791472dup ENSG00000104112 SCG3 transcript_amplification -NC_000015.10:g.51681311_51791472dup ENSG00000128872 TMOD2 coding_sequence_variant -NC_000015.10:g.51681311_51791472dup ENSG00000140280 LYSMD2 transcript_amplification -NC_000007.14:g.152052676_152295696del ENSG00000055609 KMT2C transcript_ablation -NC_000007.14:g.152052676_152295696del ENSG00000178234 GALNT11 transcript_ablation -NC_000023.11:g.136487348_136507517dup ENSG00000102239 BRS3 transcript_amplification -NC_000023.11:g.136487348_136507517dup ENSG00000102241 HTATSF1 transcript_amplification -NC_000015.10:g.22723843_23122692dup ENSG00000140157 NIPA2 transcript_amplification -NC_000015.10:g.22723843_23122692dup ENSG00000170113 NIPA1 transcript_amplification -NC_000015.10:g.22723843_23122692dup ENSG00000273749 CYFIP1 transcript_amplification -NC_000015.10:g.22723843_23122692dup ENSG00000275835 TUBGCP5 transcript_amplification -NC_000023.11:g.154015897_154030807del ENSG00000169057 MECP2 stop_lost -NC_000023.11:g.154015897_154030807del ENSG00000184216 IRAK1 feature_truncation -NC_000023.11:g.154015897_154030807del ENSG00000284286 MIR718 transcript_ablation NC_000002.12:g.202377525_202519014del141490 ENSG00000204217 BMPR2 feature_truncation -NC_000015.10:g.48428344_48428355del ENSG00000166147 FBN1 feature_truncation -NC_000023.11:g.32622009_32644156del ENSG00000198947 DMD feature_truncation -NC_000023.11:g.32622009_32644156del ENSG00000221348 MIR548F5 transcript_ablation +NC_000017.11:g.43081201_43091610del ENSG00000012048 BRCA1 feature_truncation +NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT ENSG00000183098 GPC6 feature_truncation +NC_000013.11:g.94252984_94352299del99316insCTA ENSG00000183098 GPC6 feature_truncation diff --git a/tests/pipelines/resources/expected/evidence_strings.json b/tests/pipelines/resources/expected/evidence_strings.json index 77569441..4f445120 100644 --- a/tests/pipelines/resources/expected/evidence_strings.json +++ b/tests/pipelines/resources/expected/evidence_strings.json @@ -1,509 +1,378 @@ -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000468502", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_31226668_C_T", "variantRsId": "rs1060503901", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31226668C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000477503", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000182389", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_151839269_C_T", "variantRsId": "rs1805029", "cohortPhenotypes": ["EIG", "Generalised epilepsy", "Idiopathic generalized epilepsy"], "diseaseFromSource": "Idiopathic generalized epilepsy", "diseaseFromSourceId": "C0270850", "diseaseFromSourceMappedId": "EFO_0005917", "variantHgvsId": "NC_000002.12:g.151839269C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV000490601", "releaseDate": "2017-06-03", "targetFromSourceId": "ENSG00000095002", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1", "Colorectal cancer, hereditary, nonpolyposis, type 1", "Hereditary non-polyposis colorectal cancer, type 1", "Lynch syndrome 1", "Lynch syndrome I", "MSH2-Related Hereditary Non-Polyposis Colon Cancer", "MSH2-Related Lynch Syndrome"], "diseaseFromSource": "Lynch syndrome 1", "diseaseFromSourceId": "C2936783", "diseaseFromSourceMappedId": "Orphanet_144", "variantHgvsId": "NC_000002.12:g.47439264_47450433del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV000499352", "releaseDate": "2017-10-27", "targetFromSourceId": "ENSG00000091262", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Gronblad Strandberg syndrome", "Pseudoxanthoma elasticum"], "diseaseFromSource": "Pseudoxanthoma elasticum", "diseaseFromSourceId": "C0033847", "diseaseFromSourceMappedId": "Orphanet_758", "variantHgvsId": "NC_000016.10:g.16151250_16167657del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["X-linked inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000505480", "releaseDate": "2017-09-19", "targetFromSourceId": "ENSG00000102174", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "X_22245412_A_T", "variantRsId": "rs1556201217", "cohortPhenotypes": ["Familial X-linked hypophosphatemic vitamin D refractory rickets", "HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS", "Hypophosphatemia, vitamin D-resistant rickets", "Hypophosphatemic Rickets, X-Linked Dominant", "Vitamin D-resistant rickets, X-linked"], "diseaseFromSource": "Familial X-linked hypophosphatemic vitamin D refractory rickets", "diseaseFromSourceId": "C0733682", "diseaseFromSourceMappedId": "MONDO_0000044", "variantHgvsId": "NC_000023.11:g.22245412A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000533702", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_45967491_G_A", "variantRsId": "rs149507450", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "MONDO_0005129", "variantHgvsId": "NC_000003.12:g.45967491G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000533702", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_45967491_G_A", "variantRsId": "rs149507450", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_91492", "variantHgvsId": "NC_000003.12:g.45967491G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000533702", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_45967491_G_A", "variantRsId": "rs149507450", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98991", "variantHgvsId": "NC_000003.12:g.45967491G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000533702", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_45967491_G_A", "variantRsId": "rs149507450", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 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"diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.17213710T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000561170", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000154803", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_17213710_T_C", "variantRsId": "rs749359334", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.17213710T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": 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"ENSG00000183765", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "22_28695133_CT_C", "variantRsId": "rs1555913410", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000022.11:g.28695134del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "literature": ["25851414"], "studyId": "RCV000578146", "releaseDate": "2018-02-02", "targetFromSourceId": "ENSG00000145982", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Hereditary spastic paraplegia 77", "Spastic paraplegia 77, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 77", "diseaseFromSourceId": "C4310750", "diseaseFromSourceMappedId": "Orphanet_685", "variantHgvsId": "NC_000006.12:g.5609990_5726136del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000583774", "releaseDate": "2018-02-19", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "11_108294920_C_CTTTTAGTTACATTTACATTTTAGTTAA", "variantRsId": "rs1555101604", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000011.10:g.108294921_108294926T[4]AGTTACATTTACATTTTAGTTAATTTTAG[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000591519", "releaseDate": "2018-04-02", "targetFromSourceId": "ENSG00000042781", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Usher Syndromes", "Usher syndrome", "Usher's syndrome"], "diseaseFromSource": "Usher syndrome", "diseaseFromSourceId": "C0271097", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000001.11:g.216263262_216311879del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000591738", "releaseDate": "2018-04-02", "targetFromSourceId": "ENSG00000042781", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Usher Syndromes", "Usher syndrome", "Usher's syndrome"], "diseaseFromSource": "Usher syndrome", "diseaseFromSourceId": "C0271097", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000001.11:g.215999483_216183366del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000622517", "releaseDate": "2018-04-15", "targetFromSourceId": "ENSG00000158813", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "X_69616478_CGTT_C", "variantRsId": "rs397516658", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000023.11:g.69616481_69616483del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000622998", "releaseDate": "2018-04-15", "targetFromSourceId": "ENSG00000181722", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "3_114350299_G_C", "variantRsId": "rs758842476", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000003.12:g.114350299G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000623514", "releaseDate": "2018-04-15", "targetFromSourceId": "ENSG00000120868", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_98699486_G_C", "variantRsId": "rs181546874", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000012.12:g.98699486G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000632596", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_31170004_TTAAATG_T", "variantRsId": "rs1555607130", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31170007_31170012del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000634423", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000171316", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_60865265_C_T", "variantRsId": "rs773045619", "cohortPhenotypes": ["CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES", "CHARGE association", "CHARGE syndrome", "Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies", "Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation", "Hall-Hittner syndrome", "Hittner Hirsch Kreh syndrome"], "diseaseFromSource": "CHARGE association", "diseaseFromSourceId": "C0265354", "diseaseFromSourceMappedId": "MONDO_0008965", "variantHgvsId": "NC_000008.11:g.60865265C>T"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000665302", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000072840", "variantFunctionalConsequenceId": "SO_0001821", "variantId": "4_5711491_G_GCTCGGC", "variantRsId": "rs1164121689", "cohortPhenotypes": ["Chondroectodermal dysplasia", "Ellis-van Creveld syndrome", "Mesoectodermal dysplasia"], "diseaseFromSource": "Ellis-van Creveld syndrome", "diseaseFromSourceId": "C0013903", "diseaseFromSourceMappedId": "Orphanet_289", "variantHgvsId": "NC_000004.12:g.5711494CGGCCT[4]"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000667149", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000125124", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "16_56485590_C_CCCGCAGACGACCTGCT", "variantRsId": "rs1555520212", "cohortPhenotypes": ["Bardet-Biedl syndrome 2"], "diseaseFromSource": "Bardet-Biedl syndrome 2", "diseaseFromSourceId": "C2936863", "diseaseFromSourceMappedId": "MONDO_0015229", "variantHgvsId": "NC_000016.10:g.56485592_56485607dup"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000667804", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000188603", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "16_28488663_C_T", "variantRsId": "rs1555469089", "cohortPhenotypes": ["CLN3 Disease", "CLN3-Related Neuronal Ceroid-Lipofuscinosis", "Neuronal ceroid lipofuscinosis 3", "Spielmeyer Sjogren disease"], "diseaseFromSource": "Neuronal ceroid lipofuscinosis 3", "diseaseFromSourceId": "C0751383", "diseaseFromSourceMappedId": "Orphanet_228346", "variantHgvsId": "NC_000016.10:g.28488663C>T"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000669385", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000179941", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_76346796_TAG_T", "variantRsId": "rs1555202636", "cohortPhenotypes": ["Bardet-Biedl syndrome 10"], "diseaseFromSource": "Bardet-Biedl syndrome 10", "diseaseFromSourceId": "C1859568", "diseaseFromSourceMappedId": "EFO_0009022", "variantHgvsId": "NC_000012.12:g.76346797AG[1]"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000669395", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000042781", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_216321926_T_C", "variantRsId": "rs570446209", "cohortPhenotypes": ["RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF", "Retinitis pigmentosa 39", "USHER SYNDROME, TYPE IIA", "Usher syndrome type 2A"], "diseaseFromSource": "Usher syndrome type 2A", "diseaseFromSourceId": "C1848634", "diseaseFromSourceMappedId": "MONDO_0010169", "variantHgvsId": "NC_000001.11:g.216321926T>C"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000669395", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000042781", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_216321926_T_C", "variantRsId": "rs570446209", "cohortPhenotypes": ["RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF", "Retinitis pigmentosa 39", "USHER SYNDROME, TYPE IIA", "Usher syndrome type 2A"], "diseaseFromSource": "Retinitis pigmentosa 39", "diseaseFromSourceId": "C3151138", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000001.11:g.216321926T>C"} -{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000677392", "releaseDate": "2018-08-27", "targetFromSourceId": "ENSG00000021574", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_32136930_A_G", "variantRsId": "rs1553318238", "cohortPhenotypes": ["Familial spastic paraplegia autosomal dominant 2", "Hereditary spastic paraplegia 4", "Spastic paraplegia 4, autosomal dominant"], "diseaseFromSource": "Hereditary spastic paraplegia 4", "diseaseFromSourceId": "C1866855", "diseaseFromSourceMappedId": "Orphanet_100985", "variantHgvsId": "NC_000002.12:g.32136930A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000678421", "releaseDate": "2018-09-08", "targetFromSourceId": "ENSG00000171954", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "19_15537989_C_T", "variantRsId": "rs199892192", "cohortPhenotypes": ["Autosomal recessive congenital ichthyosis 5", "Ichthyosis congenita III", "Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive", "Lamellar ichthyosis, type 3"], "diseaseFromSource": "Autosomal recessive congenital ichthyosis 5", "diseaseFromSourceId": "C1858133", "diseaseFromSourceMappedId": "MONDO_0017265", "variantHgvsId": "NC_000019.10:g.15537989C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000716018", "releaseDate": "2018-11-08", "targetFromSourceId": "ENSG00000164190", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "5_36955467_A_C", "variantRsId": "rs587784012", "cohortPhenotypes": ["History of neurodevelopmental disorder"], "diseaseFromSource": "History of neurodevelopmental disorder", "diseaseFromSourceId": "C2711754", "variantHgvsId": "NC_000005.10:g.36955467A>C"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV000736159", "releaseDate": "2019-01-22", "targetFromSourceId": "ENSG00000127603", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_39361388_A_G", "variantRsId": "rs1557609859", "cohortPhenotypes": ["Short stature"], "diseaseFromSource": "Short stature", "diseaseFromSourceId": "C0349588", "diseaseFromSourceMappedId": "MONDO_0014403", "variantHgvsId": "NC_000001.11:g.39361388A>G"} -{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": 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severe functional T-cell immunodeficiency", "Pignata Guarino syndrome", "T-cell immunodeficiency, congenital alopecia, and nail dystrophy"], "diseaseFromSource": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy", "diseaseFromSourceId": "C1866426", "diseaseFromSourceMappedId": "Orphanet_169095", "variantHgvsId": "NC_000017.11:g.28537375C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000968533", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000198734", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_169549873_T_C", "variantRsId": "rs140627208", "cohortPhenotypes": ["Factor V deficiency", "LABILE FACTOR DEFICIENCY", "OWREN PARAHEMOPHILIA", "PARAHEMOPHILIA"], "diseaseFromSource": "Factor V deficiency", "diseaseFromSourceId": "C0015499", "diseaseFromSourceMappedId": "MONDO_0009210", "variantHgvsId": "NC_000001.11:g.169549873T>C"} -{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000984024", "releaseDate": "2019-12-23", "targetFromSourceId": "ENSG00000145495", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "5_10356343_A_ATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT", "cohortPhenotypes": ["CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 3", "Epilepsy, familial adult myoclonic, 3", "FAME3"], "diseaseFromSource": "Epilepsy, familial adult myoclonic, 3", "diseaseFromSourceId": "C3150860", "diseaseFromSourceMappedId": "MONDO_0019448", "variantHgvsId": "NC_000005.10:g.10356347ATTTT[641]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001483434", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000104419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_133246619_G_A", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 4", "Charcot-Marie-Tooth, Type 4"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4", "diseaseFromSourceId": "C4082197", "diseaseFromSourceMappedId": "MONDO_0018995", "variantHgvsId": "NC_000008.11:g.133246619G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001494713", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000204406", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_148485878_G_A", "variantRsId": "rs572893308", "cohortPhenotypes": ["INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1", "Intellectual disability, autosomal dominant 1"], "diseaseFromSource": "Intellectual disability, autosomal dominant 1", "diseaseFromSourceId": "C1969562", "variantHgvsId": "NC_000002.12:g.148485878G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001496672", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "16_1568201_C_A", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "Orphanet_140969", "variantHgvsId": "NC_000016.10:g.1568201C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001496672", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "16_1568201_C_A", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "MONDO_0009964", "variantHgvsId": "NC_000016.10:g.1568201C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001501915", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000177565", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "3_177026481_G_C", "cohortPhenotypes": ["Pierpont syndrome"], "diseaseFromSource": "Pierpont syndrome", "diseaseFromSourceId": "C1865644", "diseaseFromSourceMappedId": "MONDO_0011213", "variantHgvsId": "NC_000003.12:g.177026481G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001525476", "releaseDate": "2021-06-19", "targetFromSourceId": "ENSG00000046604", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "18_31521110_C_T", "variantRsId": "rs369489095", "cohortPhenotypes": ["Cardiomyopathies", "Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy", "diseaseFromSourceId": "C0878544", "diseaseFromSourceMappedId": "EFO_0000318", "variantHgvsId": "NC_000018.10:g.31521110C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001762380", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000116062", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_47805024_T_G", "variantRsId": "rs786202777", "cohortPhenotypes": ["Endometrial carcinoma", "Endometrial carcinoma, somatic"], "diseaseFromSource": "Endometrial carcinoma", "diseaseFromSourceId": "C0476089", "diseaseFromSourceMappedId": "EFO_0004230", "variantHgvsId": "NC_000002.12:g.47805024T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001762380", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000138081", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_47805024_T_G", "variantRsId": "rs786202777", "cohortPhenotypes": ["Endometrial carcinoma", "Endometrial carcinoma, somatic"], "diseaseFromSource": "Endometrial carcinoma", "diseaseFromSourceId": "C0476089", "diseaseFromSourceMappedId": "EFO_0004230", "variantHgvsId": "NC_000002.12:g.47805024T>G"} -{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001806428", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000075043", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63446818_A_C", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 7", "Early infantile epileptic encephalopathy 7", "KCNQ2-Related Neonatal Epileptic Encephalopathy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 7", "diseaseFromSourceId": "C3150986", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000020.11:g.63446818A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001831355", "releaseDate": "2022-02-20", "targetFromSourceId": "ENSG00000277027", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "9_35658027_A_AGCTTCACAGAGTAGTGCTTCACAGAGTAGT", "cohortPhenotypes": ["Cartilage-Hair Hypoplasia", "Metaphyseal chondrodysplasia, McKusick type"], "diseaseFromSource": "Metaphyseal chondrodysplasia, McKusick type", "diseaseFromSourceId": "C0220748", "diseaseFromSourceMappedId": "MONDO_0009595", "variantHgvsId": "NC_000009.11:g.35658025_35658039[3]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001832466", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000278570", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_71811830_C_T", "variantRsId": "rs990307718", "cohortPhenotypes": ["Enhanced S-cone syndrome"], "diseaseFromSource": "Enhanced S-cone syndrome", "diseaseFromSourceId": "C1849394", "diseaseFromSourceMappedId": "MONDO_0100289", "variantHgvsId": "NC_000015.10:g.71811830C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001833776", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000159921", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_36217484_G_T", "variantRsId": "rs139347806", "cohortPhenotypes": ["GNE myopathy", "GNE-Related Myopathies", "IBM 2", "INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE", "INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE", "Inclusion body myopathy 2", "Inclusion body myopathy autosomal recessive", "Inclusion body myopathy quadriceps sparing", "MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES", "Nonaka distal myopathy", "Nonaka myopathy"], "diseaseFromSource": "GNE myopathy", "diseaseFromSourceId": "C1853926", "diseaseFromSourceMappedId": "Orphanet_602", "variantHgvsId": "NC_000009.12:g.36217484G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001914760", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000170876", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "3_14129450_T_TAAAACCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5", "Arrhythmogenic right ventricular cardiomyopathy, type 5", "Arrhythmogenic right ventricular dysplasia 5"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 5", "diseaseFromSourceId": "C1858379", "diseaseFromSourceMappedId": "Orphanet_247", "variantHgvsId": "NC_000003.12:g.14129451_14129465A[4]CCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACCAGCTCCCAG[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001914760", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000170876", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "3_14129450_T_TAAAACCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5", "Arrhythmogenic right ventricular cardiomyopathy, type 5", "Arrhythmogenic right ventricular dysplasia 5"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 5", "diseaseFromSourceId": "C1858379", "diseaseFromSourceMappedId": "MONDO_0011459", "variantHgvsId": "NC_000003.12:g.14129451_14129465A[4]CCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACCAGCTCCCAG[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001942239", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000258366", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "20_63695551_CTG_C", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal recessive 5", "Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3"], "diseaseFromSource": "Dyskeratosis congenita, autosomal recessive 5", "diseaseFromSourceId": "C3554656", "diseaseFromSourceMappedId": "MONDO_0014076", "variantHgvsId": "NC_000020.11:g.63695552TG[3]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001942239", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000258366", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "20_63695551_CTG_C", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal recessive 5", "Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3"], "diseaseFromSource": "Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3", "diseaseFromSourceId": "C4225346", "diseaseFromSourceMappedId": "EFO_1001501", "variantHgvsId": "NC_000020.11:g.63695552TG[3]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001951015", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000160224", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "21_44293126_A_ACTCCTCGGCCCTGCACCCCCTT", "cohortPhenotypes": ["APS 1", "APS I", "AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA", "Autoimmune polyendocrine syndrome type 1", "Autoimmune polyendocrinopathy syndrome, type I", "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)", "Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis", "PGA 1", "PGA I", "Polyglandular autoimmune syndrome, type 1", "Whitaker syndrome"], "diseaseFromSource": "Polyglandular autoimmune syndrome, type 1", "diseaseFromSourceId": "C0085859", "diseaseFromSourceMappedId": "Orphanet_3453", "variantHgvsId": "NC_000021.9:g.44293127_44293147CTC[2]GGCCCTGCACCCCCTTCTCCTCGGCCCTGCACCCCCT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001974720", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000116127", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_73385925_G_GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAA", "cohortPhenotypes": ["Alstrom syndrome", "Alstrom's syndrome"], "diseaseFromSource": "Alstrom syndrome", "diseaseFromSourceId": "C0268425", "diseaseFromSourceMappedId": "MONDO_0008763", "variantHgvsId": "NC_000002.12:g.73385926_73385942GAG[9]GAAGAGGAGGAGGAGGAGGA[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001978896", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000091483", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "1_241504247_T_TAAAGAAAAGAAAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["Fumarase deficiency", "Fumarate Hydratase Deficiency", "Fumaric aciduria"], "diseaseFromSource": "Fumarase deficiency", "diseaseFromSourceId": "C0342770", "diseaseFromSourceMappedId": "MONDO_0011730", "variantHgvsId": "NC_000001.11:g.241504248_241504262AAAGA[2]A[4]TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Hereditary sensory and autonomic neuropathy type 6", "diseaseFromSourceId": "C3539003", "diseaseFromSourceMappedId": "MONDO_0013839", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Hereditary sensory and autonomic neuropathy type 6", "diseaseFromSourceId": "C3539003", "diseaseFromSourceMappedId": "Orphanet_314381", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "diseaseFromSourceId": "C3809470", "diseaseFromSourceMappedId": "MONDO_0014180", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "diseaseFromSourceId": "C3809470", "diseaseFromSourceMappedId": "Orphanet_304", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002037939", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "17_31326182_T_TAGAAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31326183_31326188AGA[2]CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAGA[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002072920", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000123607", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_165953651_G_GCCCGCCCGCTCA", "cohortPhenotypes": ["Chondroectodermal dysplasia-like syndrome", "Infantile thoracic dystrophy", "Jeune syndrome", "Jeune thoracic dystrophy", "Jeune's syndrome", "Nephronophthisis", "Short-rib thoracic dysplasia", "Thoracic pelvic phalangeal dystrophy", "juvenile nephronophthisis"], "diseaseFromSource": "Jeune thoracic dystrophy", "diseaseFromSourceId": "C0265275", "diseaseFromSourceMappedId": "MONDO_0018770", "variantHgvsId": "NC_000002.12:g.165953652_165953656CCCG[2]CTCACCCGC[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002072920", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000123607", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_165953651_G_GCCCGCCCGCTCA", "cohortPhenotypes": ["Chondroectodermal dysplasia-like syndrome", "Infantile thoracic dystrophy", "Jeune syndrome", "Jeune thoracic dystrophy", "Jeune's syndrome", "Nephronophthisis", "Short-rib thoracic dysplasia", "Thoracic pelvic phalangeal dystrophy", "juvenile nephronophthisis"], "diseaseFromSource": "Nephronophthisis", "diseaseFromSourceId": "C0687120", "diseaseFromSourceMappedId": "MONDO_0019005", "variantHgvsId": "NC_000002.12:g.165953652_165953656CCCG[2]CTCACCCGC[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000488607", "releaseDate": "2017-05-14", "targetFromSourceId": "ENSG00000204217", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Pulmonary hypertension, primary, 1"], "diseaseFromSource": "Pulmonary hypertension, primary, 1", "diseaseFromSourceId": "C4552070", "diseaseFromSourceMappedId": "EFO_0001361", "variantHgvsId": "NC_000002.12:g.202377525_202519014del141490"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000705609", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000183337", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_40075123_T_A", "variantRsId": "rs61744882", "cohortPhenotypes": ["Microphthalmia cataracts radiculomegaly and septal heart defects", "Oculofaciocardiodental syndrome"], "diseaseFromSource": "Oculofaciocardiodental syndrome", "diseaseFromSourceId": "C1846265", "diseaseFromSourceMappedId": "MONDO_0010261", "variantHgvsId": "NC_000023.11:g.40075123T>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000320492", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000108821", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_50185886_C_G", "variantRsId": "rs886053159", "cohortPhenotypes": ["Osteogenesis imperfecta"], "diseaseFromSource": "Osteogenesis imperfecta", "diseaseFromSourceId": "C0029434", "diseaseFromSourceMappedId": "MONDO_0019019", "variantHgvsId": "NC_000017.11:g.50185886C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000618080", "releaseDate": "2018-04-14", "targetFromSourceId": "ENSG00000138347", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_68122098_G_A", "variantRsId": "rs372218308", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000010.11:g.68122098G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000647147", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000203867", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_110812366_TC_AG", "variantRsId": "rs1554842673", "cohortPhenotypes": ["Dilated cardiomyopathy 1DD"], "diseaseFromSource": "Dilated cardiomyopathy 1DD", "diseaseFromSourceId": "C2750995", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000010.11:g.110812366_110812367delinsAG"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000802373", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000120071", "variantFunctionalConsequenceId": "SO_0001787", "variantId": "17_46170849_ACTC_A", "variantRsId": "rs1597870189", "cohortPhenotypes": ["KANSL1-Related Intellectual Disability Syndrome", "Koolen-de Vries syndrome"], "diseaseFromSource": "Koolen-de Vries syndrome", "diseaseFromSourceId": "C1864871", "diseaseFromSourceMappedId": "MONDO_0012496", "variantHgvsId": "NC_000017.11:g.46170850_46170852del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001102435", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000162688", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "1_99923371_A_C", "variantRsId": "rs111689090", "cohortPhenotypes": ["Amylo-1,6-glucosidase deficiency", "Cori disease", "Forbes disease", "Glycogen debrancher deficiency", "Glycogen storage disease type 3", "Glycogen storage disease type III", "Limit dextrinosis"], "diseaseFromSource": "Glycogen storage disease type III", "diseaseFromSourceId": "C0017922", "diseaseFromSourceMappedId": "MONDO_0009291", "variantHgvsId": "NC_000001.11:g.99923371A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001128846", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178570877_A_G", "variantRsId": "rs1707950573", "cohortPhenotypes": ["EDSTROM MYOPATHY", "Hereditary myopathy with early respiratory failure", "MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT", "Myopathy, distal, with early respiratory failure, autosomal dominant", "Myopathy, myofibrillar, 9, with early respiratory failure"], "diseaseFromSource": "Myopathy, myofibrillar, 9, with early respiratory failure", "diseaseFromSourceId": "C1863599", "diseaseFromSourceMappedId": "Orphanet_178464", "variantHgvsId": "NC_000002.12:g.178570877A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001136266", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178546776_A_G", "variantRsId": "rs369870689", "cohortPhenotypes": ["EDSTROM MYOPATHY", "Hereditary myopathy with early respiratory failure", "MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT", "Myopathy, distal, with early respiratory failure, autosomal dominant", "Myopathy, myofibrillar, 9, with early respiratory failure"], "diseaseFromSource": "Myopathy, myofibrillar, 9, with early respiratory failure", "diseaseFromSourceId": "C1863599", "diseaseFromSourceMappedId": "Orphanet_178464", "variantHgvsId": "NC_000002.12:g.178546776A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001143835", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000183421", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "21_41740634_C_T", "variantRsId": "rs533596469", "cohortPhenotypes": ["Bartsocas-Papas syndrome", "Bartsocas-Papas syndrome 1", "MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE", "PTERYGIUM, POPLITEAL, LETHAL TYPE", "Popliteal pterygium syndrome lethal type"], "diseaseFromSource": "Bartsocas-Papas syndrome 1", "diseaseFromSourceId": "C1849718", "diseaseFromSourceMappedId": "MONDO_0009901", "variantHgvsId": "NC_000021.9:g.41740634C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001143835", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000183421", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "21_41740634_C_T", "variantRsId": "rs533596469", "cohortPhenotypes": ["Bartsocas-Papas syndrome", "Bartsocas-Papas syndrome 1", "MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE", "PTERYGIUM, POPLITEAL, LETHAL TYPE", "Popliteal pterygium syndrome lethal type"], "diseaseFromSource": "Bartsocas-Papas syndrome 1", "diseaseFromSourceId": "C1849718", "diseaseFromSourceMappedId": "Orphanet_1234", "variantHgvsId": "NC_000021.9:g.41740634C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001149041", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000163817", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_45758959_C_T", "variantRsId": "rs191934337", "cohortPhenotypes": ["GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS", "GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS", "Hyperglycinuria", "IMINOGLYCINURIA TYPE II"], "diseaseFromSource": "Hyperglycinuria", "diseaseFromSourceId": "C0543541", "diseaseFromSourceMappedId": "HP_0003108", "variantHgvsId": "NC_000003.12:g.45758959C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001153501", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000145794", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_127459867_G_C", "variantRsId": "rs75434042", "cohortPhenotypes": ["CONGENITAL MYOPATHY 10A, SEVERE VARIANT", "MEGF10-related myopathy", "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset"], "diseaseFromSource": "MEGF10-related myopathy", "diseaseFromSourceId": "C3280679", "diseaseFromSourceMappedId": "MONDO_0013731", "variantHgvsId": "NC_000005.10:g.127459867G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001153501", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000145794", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_127459867_G_C", "variantRsId": "rs75434042", "cohortPhenotypes": ["CONGENITAL MYOPATHY 10A, SEVERE VARIANT", "MEGF10-related myopathy", "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset"], "diseaseFromSource": "MEGF10-related myopathy", "diseaseFromSourceId": "C3280679", "diseaseFromSourceMappedId": "Orphanet_98920", "variantHgvsId": "NC_000005.10:g.127459867G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001158788", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000242802", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_4794226_A_G", "variantRsId": "rs62453211", "cohortPhenotypes": ["Hereditary spastic paraplegia 48", "Spastic paraplegia 48", "Spastic paraplegia 48, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 48", "diseaseFromSourceId": "C3150901", "diseaseFromSourceMappedId": "Orphanet_306511", "variantHgvsId": "NC_000007.14:g.4794226A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001166312", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000147894", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_27547172_T_C", "variantRsId": "rs184151041", "cohortPhenotypes": ["Frontotemporal dementia and/or amyotrophic lateral sclerosis 1", "Frontotemporal dementia with motor neuron disease 1"], "diseaseFromSource": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 1", "diseaseFromSourceId": "C3888102", "diseaseFromSourceMappedId": "MONDO_0007105", "variantHgvsId": "NC_000009.12:g.27547172T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001187337", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_61743154_CA_C", "variantRsId": "rs1474570916", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.61743155del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001276465", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000158169", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_95247444_T_C", "variantRsId": "rs1064793110", "cohortPhenotypes": ["FACC", "FANCONI PANCYTOPENIA, TYPE 3", "Fanconi anemia complementation group C", "Fanconi anemia, group C"], "diseaseFromSource": "Fanconi anemia complementation group C", "diseaseFromSourceId": "C3468041", "diseaseFromSourceMappedId": "MONDO_0009213", "variantHgvsId": "NC_000009.12:g.95247444T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001361662", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000196296", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_28900872_A_C", "variantRsId": "rs1181435083", "cohortPhenotypes": ["BRODY DISEASE", "Brody myopathy"], "diseaseFromSource": "Brody myopathy", "diseaseFromSourceId": "C1832918", "diseaseFromSourceMappedId": "MONDO_0010977", "variantHgvsId": "NC_000016.10:g.28900872A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001374818", "releaseDate": "2021-04-28", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "15_48520658_C_T", "variantRsId": "rs2141335918", "cohortPhenotypes": ["Isolated thoracic aortic aneurysm"], "diseaseFromSource": "Isolated thoracic aortic aneurysm", "variantHgvsId": "NC_000015.10:g.48520658C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001376222", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000105618", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_54123761_G_GGAGGAGGAGCTCC", "variantRsId": "rs2146420554", "cohortPhenotypes": ["RP 11", "Retinitis pigmentosa 11"], "diseaseFromSource": "Retinitis pigmentosa 11", "diseaseFromSourceId": "C1838601", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000019.10:g.54123762_54123772GAG[3]CTCCGAGGAGGAGCT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377853", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000145375", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "4_122979387_G_T", "variantRsId": "rs2125831782", "cohortPhenotypes": ["Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome", "NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES"], "diseaseFromSource": "Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome", "diseaseFromSourceId": "C4225276", "variantHgvsId": "NC_000004.12:g.122979387G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001479417", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000165282", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_35094253_T_C", "variantRsId": "rs1829567186", "cohortPhenotypes": ["GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6", "HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2", "Hyperphosphatasia with intellectual disability syndrome 2"], "diseaseFromSource": "Hyperphosphatasia with intellectual disability syndrome 2", "diseaseFromSourceId": "C3553637", "variantHgvsId": "NC_000009.12:g.35094253T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001526726", "releaseDate": "2021-06-19", "targetFromSourceId": "ENSG00000137474", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_77157310_A_G", "variantRsId": "rs2135244325", "cohortPhenotypes": ["Retinitis pigmentosa and congenital deafness", "Usher syndrome type 1", "Usher syndrome, type I, French variety"], "diseaseFromSource": "Usher syndrome type 1", "diseaseFromSourceId": "C1568247", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000011.10:g.77157310A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001537974", "releaseDate": "2021-07-24", "targetFromSourceId": "ENSG00000107521", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "10_98429485_G_A", "variantRsId": "rs34533614", "cohortPhenotypes": ["DELTA STORAGE POOL DISEASE", "Hermansky-Pudlak syndrome 1"], "diseaseFromSource": "Hermansky-Pudlak syndrome 1", "diseaseFromSourceId": "C2931875", "diseaseFromSourceMappedId": "MONDO_0019312", "variantHgvsId": "NC_000010.11:g.98429485G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001542680", "releaseDate": "2021-07-28", "targetFromSourceId": "ENSG00000139132", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_32598579_TAGATC_T", "variantRsId": "rs2136608035", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4H", "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4H", "Charcot-Marie-Tooth Neuropathy Type 4H", "Charcot-Marie-Tooth disease type 4H"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4H", "diseaseFromSourceId": "C1836336", "diseaseFromSourceMappedId": "MONDO_0012250", "variantHgvsId": "NC_000012.12:g.32598582_32598586del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001543344", "releaseDate": "2021-07-30", "targetFromSourceId": "ENSG00000141012", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "16_88856849_C_T", "variantRsId": "rs1967945316", "cohortPhenotypes": ["Galactosamine-6-sulfatase deficiency", "MPS 4A", "MPS IVA", "Morquio A disease", "Morquio syndrome A", "Morquio syndrome A, mild", "Mucopolysaccharidosis Type IVA", "Mucopolysaccharidosis type IV A", "Mucopolysaccharidosis, MPS-IV-A"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-IV-A", "diseaseFromSourceId": "C0086651", "diseaseFromSourceMappedId": "MONDO_0009659", "variantHgvsId": "NC_000016.10:g.88856849C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001543344", "releaseDate": "2021-07-30", "targetFromSourceId": "ENSG00000167515", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "16_88856849_C_T", "variantRsId": "rs1967945316", "cohortPhenotypes": ["Galactosamine-6-sulfatase deficiency", "MPS 4A", "MPS IVA", "Morquio A disease", "Morquio syndrome A", "Morquio syndrome A, mild", "Mucopolysaccharidosis Type IVA", "Mucopolysaccharidosis type IV A", "Mucopolysaccharidosis, MPS-IV-A"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-IV-A", "diseaseFromSourceId": "C0086651", "diseaseFromSourceMappedId": "MONDO_0009659", "variantHgvsId": "NC_000016.10:g.88856849C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["30767057"], "studyId": "RCV001543594", "releaseDate": "2021-07-31", "targetFromSourceId": "ENSG00000197467", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "10_69940993_TTC_CCCT", "variantRsId": "rs2136077497", "cohortPhenotypes": ["Congenital myasthenic syndrome 19"], "diseaseFromSource": "Congenital myasthenic syndrome 19", "diseaseFromSourceId": "C4225235", "variantHgvsId": "NC_000010.11:g.69940993_69940995delinsCCCT"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001549198", "releaseDate": "2021-08-07", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "20_25390489_C_G", "variantRsId": "rs77202707", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "MONDO_0012984", "variantHgvsId": "NC_000020.11:g.25390489C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001549198", "releaseDate": "2021-08-07", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "20_25390489_C_G", "variantRsId": "rs77202707", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "Orphanet_171848", "variantHgvsId": "NC_000020.11:g.25390489C>G"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001553540", "releaseDate": "2021-08-07", "targetFromSourceId": "ENSG00000177666", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "11_823863_C_G", "variantRsId": "rs2133849779", "cohortPhenotypes": ["Muscle disorders", "Myopathy"], "diseaseFromSource": "Myopathy", "diseaseFromSourceId": "C0026848", "diseaseFromSourceMappedId": "EFO_0004145", "variantHgvsId": "NC_000011.10:g.823863C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV001730132", "releaseDate": "2021-10-16", "targetFromSourceId": "ENSG00000108384", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_58695260_G_A", "variantRsId": "rs376780225", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.58695260G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV001730132", "releaseDate": "2021-10-16", "targetFromSourceId": "ENSG00000108384", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_58695260_G_A", "variantRsId": "rs376780225", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "MONDO_0003582", "variantHgvsId": "NC_000017.11:g.58695260G>A"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001783910", "releaseDate": "2021-11-29", "targetFromSourceId": "ENSG00000100106", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "22_37724732_C_T", "variantRsId": "rs375857763", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 28", "Deafness, autosomal recessive 28"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 28", "diseaseFromSourceId": "C1853276", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000022.11:g.37724732C>T"} +{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001806428", "releaseDate": "2022-01-08", "targetFromSourceId": "ENSG00000075043", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63446818_A_C", "variantRsId": "rs2145789722", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 7", "Early infantile epileptic encephalopathy 7", "KCNQ2-Related Neonatal Epileptic Encephalopathy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 7", "diseaseFromSourceId": "C3150986", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000020.11:g.63446818A>C"} +{"alleleOrigins": ["maternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001807686", "releaseDate": "2022-01-14", "targetFromSourceId": "ENSG00000141052", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "17_12744433_TTAAG_T", "variantRsId": "rs2150711288", "cohortPhenotypes": ["Megabladder, congenital"], "diseaseFromSource": "Megabladder, congenital", "diseaseFromSourceId": "C5231472", "diseaseFromSourceMappedId": "EFO_0010655", "variantHgvsId": "NC_000017.11:g.12744435AAGT[1]"} +{"alleleOrigins": ["maternal", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001822951", "releaseDate": "2022-02-05", "targetFromSourceId": "ENSG00000091536", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_18171738_C_T", "variantRsId": "rs952306971", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 3", "Deafness, autosomal recessive 3", "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 3", "diseaseFromSourceId": "C1838263", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000017.11:g.18171738C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001882243", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000138686", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_121847458_G_T", "variantRsId": "rs778714139", "cohortPhenotypes": ["Bardet-Biedl syndrome"], "diseaseFromSource": "Bardet-Biedl syndrome", "diseaseFromSourceId": "C0752166", "diseaseFromSourceMappedId": "MONDO_0015229", "variantHgvsId": "NC_000004.12:g.121847458G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001931870", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000164073", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_127930737_G_T", "variantRsId": "rs767331120", "cohortPhenotypes": ["MFSD8-Related Neuronal Ceroid-Lipofuscinosis", "Neuronal ceroid lipofuscinosis 7"], "diseaseFromSource": "Neuronal ceroid lipofuscinosis 7", "diseaseFromSourceId": "C1838571", "diseaseFromSourceMappedId": "MONDO_0016295", "variantHgvsId": "NC_000004.12:g.127930737G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001938611", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000162688", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_99913677_G_A", "variantRsId": "rs776872571", "cohortPhenotypes": ["Amylo-1,6-glucosidase deficiency", "Cori disease", "Forbes disease", "Glycogen debrancher deficiency", "Glycogen storage disease type 3", "Glycogen storage disease type III", "Limit dextrinosis"], "diseaseFromSource": "Glycogen storage disease type III", "diseaseFromSourceId": "C0017922", "diseaseFromSourceMappedId": "MONDO_0009291", "variantHgvsId": "NC_000001.11:g.99913677G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001957854", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000168434", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_23434676_C_T", "variantRsId": "rs766859040", "cohortPhenotypes": ["CDG 2E", "CDG IIe", "COG7 congenital disorder of glycosylation", "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe", "Congenital disorder of glycosylation type 2E"], "diseaseFromSource": "COG7 congenital disorder of glycosylation", "diseaseFromSourceId": "C2931010", "diseaseFromSourceMappedId": "MONDO_0012118", "variantHgvsId": "NC_000016.10:g.23434676C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001386995", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000160789", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "1_156136375_TG_T", "variantRsId": "rs2102890974", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 2", "Charcot-Marie-Tooth, Type 2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2", "diseaseFromSourceId": "C0270914", "diseaseFromSourceMappedId": "MONDO_0018993", "variantHgvsId": "NC_000001.11:g.156136377del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001397542", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000171298", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_80118365_C_A", "variantRsId": "rs773123506", "cohortPhenotypes": ["ACID ALPHA-GLUCOSIDASE DEFICIENCY", "Acid maltase deficiency disease", "Aglucosidase alfa", "Alpha-1,4-glucosidase deficiency", "Cardiomegalia glycogenica diffusa", "Deficiency of alpha-glucosidase", "Deficiency of lysosomal alpha-glucosidase", "GLYCOGENOSIS, GENERALIZED, CARDIAC FORM", "GSD II", "Glucosidase acid-1,4-alpha deficiency", "Glycogen Storage Disease Type II (Pompe Disease)", "Glycogen storage disease type 2", "Glycogen storage disease, type II", "POMPE DISEASE"], "diseaseFromSource": "Glycogen storage disease, type II", "diseaseFromSourceId": "C0017921", "diseaseFromSourceMappedId": "Orphanet_365", "variantHgvsId": "NC_000017.11:g.80118365C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001401655", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000127616", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "19_11034207_G_T", "variantRsId": "rs543683431", "cohortPhenotypes": ["Rhabdoid tumor predisposition syndrome 2"], "diseaseFromSource": "Rhabdoid tumor predisposition syndrome 2", "diseaseFromSourceId": "C2750074", "diseaseFromSourceMappedId": "MONDO_0016473", "variantHgvsId": "NC_000019.10:g.11034207G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001403013", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000101347", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "20_36911288_T_C", "variantRsId": "rs773943611", "cohortPhenotypes": ["Aicardi-Goutieres syndrome 5"], "diseaseFromSource": "Aicardi-Goutieres syndrome 5", "diseaseFromSourceId": "C2749659", "variantHgvsId": "NC_000020.11:g.36911288T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407545", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000046604", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "18_31519811_C_T", "variantRsId": "rs2144313897", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10", "Arrhythmogenic right ventricular cardiomyopathy, type 10", "Arrhythmogenic right ventricular dysplasia 10", "Arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 10"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 10", "diseaseFromSourceId": "C1857777", "diseaseFromSourceMappedId": "Orphanet_247", "variantHgvsId": "NC_000018.10:g.31519811C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001429981", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000105227", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_40397704_T_C", "variantRsId": "rs1199712298", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 4", "Charcot-Marie-Tooth, Type 4"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4", "diseaseFromSourceId": "C4082197", "diseaseFromSourceMappedId": "MONDO_0018995", "variantHgvsId": "NC_000019.10:g.40397704T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001430134", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000138078", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_44326835_C_T", "variantRsId": "rs944899015", "cohortPhenotypes": ["Myasthenic syndrome, congenital, 22", "PREPL DEFICIENCY"], "diseaseFromSource": "Myasthenic syndrome, congenital, 22", "diseaseFromSourceId": "C4479088", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000002.12:g.44326835C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001483434", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000104419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_133246619_G_A", "variantRsId": "rs376272911", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 4", "Charcot-Marie-Tooth, Type 4"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4", "diseaseFromSourceId": "C4082197", "diseaseFromSourceMappedId": "MONDO_0018995", "variantHgvsId": "NC_000008.11:g.133246619G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001493569", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000167895", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_78140898_G_A", "variantRsId": "rs755057465", "cohortPhenotypes": ["Epidermodysplasia verruciformis"], "diseaseFromSource": "Epidermodysplasia verruciformis", "diseaseFromSourceId": "C0014522", "diseaseFromSourceMappedId": "MONDO_0009176", "variantHgvsId": "NC_000017.11:g.78140898G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001495057", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000139174", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_42464792_A_G", "variantRsId": "rs2140101201", "cohortPhenotypes": ["Epilepsy, progressive myoclonic, 1B", "PME", "Progressive myoclonus epilepsy with ataxia"], "diseaseFromSource": "Epilepsy, progressive myoclonic, 1B", "diseaseFromSourceId": "C2676254", "diseaseFromSourceMappedId": "Orphanet_308", "variantHgvsId": "NC_000012.12:g.42464792A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001496672", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "16_1568201_C_A", "variantRsId": "rs563911349", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "Orphanet_140969", "variantHgvsId": "NC_000016.10:g.1568201C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001496672", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "16_1568201_C_A", "variantRsId": "rs563911349", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "MONDO_0009964", "variantHgvsId": "NC_000016.10:g.1568201C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001499491", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000122218", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_160291371_T_C", "variantRsId": "rs960224179", "cohortPhenotypes": ["Autoimmune interstitial lung disease-arthritis syndrome", "Autoimmune interstitial lung, joint, and kidney disease"], "diseaseFromSource": "Autoimmune interstitial lung disease-arthritis syndrome", "diseaseFromSourceId": "C5243948", "diseaseFromSourceMappedId": "MONDO_0014629", "variantHgvsId": "NC_000001.11:g.160291371T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001499491", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000122218", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_160291371_T_C", "variantRsId": "rs960224179", "cohortPhenotypes": ["Autoimmune interstitial lung disease-arthritis syndrome", "Autoimmune interstitial lung, joint, and kidney disease"], "diseaseFromSource": "Autoimmune interstitial lung disease-arthritis syndrome", "diseaseFromSourceId": "C5243948", "diseaseFromSourceMappedId": "EFO_0004244", "variantHgvsId": "NC_000001.11:g.160291371T>C"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001520269", "releaseDate": "2021-06-15", "targetFromSourceId": "ENSG00000116127", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "2_73601183_T_C", "variantRsId": "rs1320374", "cohortPhenotypes": ["Alstrom syndrome", "Alstrom's syndrome"], "diseaseFromSource": "Alstrom syndrome", "diseaseFromSourceId": "C0268425", "diseaseFromSourceMappedId": "MONDO_0008763", "variantHgvsId": "NC_000002.12:g.73601183T>C"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001553540", "releaseDate": "2021-08-07", "targetFromSourceId": "ENSG00000177666", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "11_823863_C_G", "cohortPhenotypes": ["Muscle disorders", "Myopathy"], "diseaseFromSource": "Myopathy", "diseaseFromSourceId": "C0026848", "diseaseFromSourceMappedId": "EFO_0004145", "variantHgvsId": "NC_000011.10:g.823863C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000499412", "releaseDate": "2017-08-28", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "5_112827194_C_T", "variantRsId": "rs137854580", "cohortPhenotypes": ["Classic familial adenomatous polyposis", "Familial adenomatous polyposis", "Familial adenomatous polyposis of the colon", "Familial intestinal polyposis", "Familial multiple polyposis", "Familial multiple polyposis syndrome", "Familial polyposis", "Familial polyposis of the colon", "Hereditary polyposis coli"], "diseaseFromSource": "Familial multiple polyposis syndrome", "diseaseFromSourceId": "C0032580", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112827194C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000533620", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000175920", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "4_3492937_A_AC", "variantRsId": "rs794727884", "cohortPhenotypes": ["Congenital myasthenic syndrome 10", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "Myasthenia, limb-girdle, familial", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Fetal akinesia deformation sequence 1", "diseaseFromSourceId": "C1276035", "diseaseFromSourceMappedId": "Orphanet_994", "variantHgvsId": "NC_000004.12:g.3492943dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000533620", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000175920", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "4_3492937_A_AC", "variantRsId": "rs794727884", "cohortPhenotypes": ["Congenital myasthenic syndrome 10", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "Myasthenia, limb-girdle, familial", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Congenital myasthenic syndrome 10", "diseaseFromSourceId": "C1850792", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000004.12:g.3492943dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001100115", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000142798", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_21841203_G_A", "variantRsId": "rs533824462", "cohortPhenotypes": ["Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities", "Schwartz-Jampel syndrome"], "diseaseFromSource": "Schwartz-Jampel syndrome", "diseaseFromSourceId": "C0036391", "diseaseFromSourceMappedId": "MONDO_0009717", "variantHgvsId": "NC_000001.11:g.21841203G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001384081", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000101384", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "20_10641678_G_A", "variantRsId": "rs1555827789", "cohortPhenotypes": ["Alagille syndrome 1", "Alagille syndrome due to a JAG1 point mutation", "JAG1-Related Alagille Syndrome"], "diseaseFromSource": "Alagille syndrome due to a JAG1 point mutation", "diseaseFromSourceId": "C1956125", "diseaseFromSourceMappedId": "Orphanet_52", "variantHgvsId": "NC_000020.11:g.10641678G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001384081", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000101384", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "20_10641678_G_A", "variantRsId": "rs1555827789", "cohortPhenotypes": ["Alagille syndrome 1", "Alagille syndrome due to a JAG1 point mutation", "JAG1-Related Alagille Syndrome"], "diseaseFromSource": "Alagille syndrome due to a JAG1 point mutation", "diseaseFromSourceId": "C1956125", "diseaseFromSourceMappedId": "MONDO_0016862", "variantHgvsId": "NC_000020.11:g.10641678G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002104093", "releaseDate": "2022-06-05", "targetFromSourceId": "ENSG00000165917", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_47438749_G_A", "cohortPhenotypes": ["Congenital myasthenic syndrome 11", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "MYASTHENIC SYNDROME, CONGENITAL, Ie", "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Fetal akinesia deformation sequence 1", "diseaseFromSourceId": "C1276035", "diseaseFromSourceMappedId": "Orphanet_994", "variantHgvsId": "NC_000011.10:g.47438749G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002104093", "releaseDate": "2022-06-05", "targetFromSourceId": "ENSG00000165917", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_47438749_G_A", "cohortPhenotypes": ["Congenital myasthenic syndrome 11", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "MYASTHENIC SYNDROME, CONGENITAL, Ie", "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Congenital myasthenic syndrome 11", "diseaseFromSourceId": "C4225367", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000011.10:g.47438749G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000663963", "releaseDate": "2018-07-21", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "15_48421682_GT_G", "variantRsId": "rs1555394220", "cohortPhenotypes": ["MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome"], "diseaseFromSource": "Marfan syndrome", "diseaseFromSourceId": "C0024796", "diseaseFromSourceMappedId": "MONDO_0007947", "variantHgvsId": "NC_000015.10:g.48421684del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000666985", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000141458", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "18_23539922_T_TC", "variantRsId": "rs1555633326", "cohortPhenotypes": ["NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY", "NIEMANN-PICK DISEASE, VARIANT TYPE C1", "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "Niemann-Pick disease with cholesterol esterification block", "Niemann-Pick disease, chronic neuronopathic form", "Niemann-Pick disease, type C1"], "diseaseFromSource": "Niemann-Pick disease, type C1", "diseaseFromSourceId": "C3179455", "diseaseFromSourceMappedId": "MONDO_0018982", "variantHgvsId": "NC_000018.10:g.23539924dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000697073", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_166277279_CA_C", "variantRsId": "rs753900410", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type 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type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "MONDO_0015364", "variantHgvsId": "NC_000002.12:g.166277281del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000697073", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_166277279_CA_C", "variantRsId": "rs753900410", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Generalized epilepsy with febrile seizures plus, type 7", "diseaseFromSourceId": "C2751778", "diseaseFromSourceMappedId": "Orphanet_36387", "variantHgvsId": "NC_000002.12:g.166277281del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232710", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166199096_C_T", "variantRsId": "rs199705100", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "Orphanet_970", "variantHgvsId": "NC_000002.12:g.166199096C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232710", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166199096_C_T", "variantRsId": "rs199705100", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "MONDO_0015364", "variantHgvsId": "NC_000002.12:g.166199096C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232710", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166199096_C_T", "variantRsId": "rs199705100", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 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"NIEMANN-PICK DISEASE, VARIANT TYPE C1", "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "Niemann-Pick disease with cholesterol esterification block", "Niemann-Pick disease, chronic neuronopathic form", "Niemann-Pick disease, type C1"], "diseaseFromSource": "Niemann-Pick disease, type C1", "diseaseFromSourceId": "C3179455", "diseaseFromSourceMappedId": "MONDO_0018982", "variantHgvsId": "NC_000018.10:g.23561485T>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "diseaseFromSourceId": "C2931072", "diseaseFromSourceMappedId": "Orphanet_257", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "diseaseFromSourceId": "C2931072", "diseaseFromSourceMappedId": "MONDO_0009181", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex, Ogna type", "diseaseFromSourceId": "C0432317", "diseaseFromSourceMappedId": "Orphanet_79401", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5C, with pyloric atresia", "diseaseFromSourceId": "C2677349", "diseaseFromSourceMappedId": "MONDO_0012807", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5C, with pyloric atresia", "diseaseFromSourceId": "C2677349", "diseaseFromSourceMappedId": "Orphanet_158684", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Q", "diseaseFromSourceId": "C3150989", "diseaseFromSourceMappedId": "MONDO_0013390", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Q", "diseaseFromSourceId": "C3150989", "diseaseFromSourceMappedId": "Orphanet_254361", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex with nail dystrophy", "diseaseFromSourceId": "C4225309", "diseaseFromSourceMappedId": "MONDO_0014661", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407801", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_48421574_G_A", "variantRsId": "rs758353830", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Marfan syndrome", "diseaseFromSourceId": "C0024796", "diseaseFromSourceMappedId": "MONDO_0007947", "variantHgvsId": "NC_000015.10:g.48421574G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407801", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_48421574_G_A", "variantRsId": "rs758353830", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "EFO_0009299", "variantHgvsId": "NC_000015.10:g.48421574G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407801", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_48421574_G_A", "variantRsId": "rs758353830", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "Orphanet_285014", "variantHgvsId": "NC_000015.10:g.48421574G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002179803", "releaseDate": "2022-06-07", "targetFromSourceId": "ENSG00000141458", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_23541169_C_T", "cohortPhenotypes": ["NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY", "NIEMANN-PICK DISEASE, VARIANT TYPE C1", "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "Niemann-Pick disease with cholesterol esterification block", "Niemann-Pick disease, chronic neuronopathic form", "Niemann-Pick disease, type C1"], "diseaseFromSource": "Niemann-Pick disease, type C1", "diseaseFromSourceId": "C3179455", "diseaseFromSourceMappedId": "MONDO_0018982", "variantHgvsId": "NC_000018.10:g.23541169C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002227702", "releaseDate": "2022-06-07", "targetFromSourceId": "ENSG00000100014", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_24321519_C_G", "cohortPhenotypes": ["CHROMOSOME 22q11.2 DELETION SYNDROME, OPITZ PHENOTYPE", "HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS", "HYPERTELORISM-HYPOSPADIAS SYNDROME", "OPITZ BBB SYNDROME, TYPE II", "OPITZ BBBG SYNDROME, TYPE II", "OPITZ OCULOGENITOLARYNGEAL SYNDROME, TYPE II", "OPITZ-G SYNDROME, TYPE II", "Teebi hypertelorism syndrome 1"], "diseaseFromSource": "Teebi hypertelorism syndrome 1", "diseaseFromSourceId": "CN306405", "variantHgvsId": "NC_000022.11:g.24321519C>G"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002246062", "releaseDate": "2022-06-07", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome"], "diseaseFromSource": "Marfan syndrome", "diseaseFromSourceId": "C0024796", "diseaseFromSourceMappedId": "MONDO_0007947", "variantHgvsId": "NC_000015.10:g.48428344_48428355del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000353778", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_52401645_C_T", "variantRsId": "rs374367093", "cohortPhenotypes": ["BAP1 tumor predisposition syndrome", "BAP1-related tumor predisposition syndrome", "Tumor predisposition syndrome", "Tumor susceptibility linked to germline BAP1 mutations"], "diseaseFromSource": "BAP1-related tumor predisposition syndrome", "diseaseFromSourceId": "C3280492", "diseaseFromSourceMappedId": "MONDO_0013692", "variantHgvsId": "NC_000003.12:g.52401645C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000353778", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_52401645_C_T", "variantRsId": "rs374367093", "cohortPhenotypes": ["BAP1 tumor predisposition syndrome", "BAP1-related tumor predisposition syndrome", "Tumor predisposition syndrome", "Tumor susceptibility linked to germline BAP1 mutations"], "diseaseFromSource": "BAP1-related tumor predisposition syndrome", "diseaseFromSourceId": "C3280492", "diseaseFromSourceMappedId": "Orphanet_289539", "variantHgvsId": "NC_000003.12:g.52401645C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000526798", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000143337", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "1_179914055_G_A", "variantRsId": "rs2274955", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Y", "Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures", "Muscular dystrophy, limb-girdle, type 2y"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Y", "diseaseFromSourceId": "C4511482", "diseaseFromSourceMappedId": "MONDO_0014900", "variantHgvsId": "NC_000001.11:g.179914055G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000526798", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000143337", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "1_179914055_G_A", "variantRsId": "rs2274955", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Y", "Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures", "Muscular dystrophy, limb-girdle, type 2y"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Y", "diseaseFromSourceId": "C4511482", "diseaseFromSourceMappedId": "EFO_0000310", "variantHgvsId": "NC_000001.11:g.179914055G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000687908", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000164362", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_1293861_C_T", "variantRsId": "rs773366454", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal dominant 2", "Familial idiopathic pulmonary fibrosis", "Fibrocystic pulmonary dysplasia", "Fibrosing alveolitis, cryptogenic", "INTERSTITIAL LUNG DISEASE 2", "Idiopathic Pulmonary Fibrosis", "Idiopathic fibrosing alveolitis, chronic form"], "diseaseFromSource": "Idiopathic Pulmonary Fibrosis", "diseaseFromSourceId": "C5561926", "diseaseFromSourceMappedId": "EFO_0000768", "variantHgvsId": "NC_000005.10:g.1293861C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000687908", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000164362", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_1293861_C_T", "variantRsId": "rs773366454", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal dominant 2", "Familial idiopathic pulmonary fibrosis", "Fibrocystic pulmonary dysplasia", "Fibrosing alveolitis, cryptogenic", "INTERSTITIAL LUNG DISEASE 2", "Idiopathic Pulmonary Fibrosis", "Idiopathic fibrosing alveolitis, chronic form"], "diseaseFromSource": "Dyskeratosis congenita, autosomal dominant 2", "diseaseFromSourceId": "C3151443", "diseaseFromSourceMappedId": "MONDO_0013521", "variantHgvsId": "NC_000005.10:g.1293861C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000869348", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000164362", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_1268591_G_A", "variantRsId": "rs374940572", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal dominant 2", "Familial idiopathic pulmonary fibrosis", "Fibrocystic pulmonary dysplasia", "Fibrosing alveolitis, cryptogenic", "INTERSTITIAL LUNG DISEASE 2", "Idiopathic Pulmonary Fibrosis", "Idiopathic fibrosing alveolitis, chronic form"], "diseaseFromSource": "Idiopathic Pulmonary Fibrosis", "diseaseFromSourceId": "C5561926", "diseaseFromSourceMappedId": "EFO_0000768", "variantHgvsId": "NC_000005.10:g.1268591G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000869348", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000164362", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_1268591_G_A", "variantRsId": "rs374940572", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal dominant 2", "Familial idiopathic pulmonary fibrosis", "Fibrocystic pulmonary dysplasia", "Fibrosing alveolitis, cryptogenic", "INTERSTITIAL LUNG DISEASE 2", "Idiopathic Pulmonary Fibrosis", "Idiopathic fibrosing alveolitis, chronic form"], "diseaseFromSource": "Dyskeratosis congenita, autosomal dominant 2", "diseaseFromSourceId": "C3151443", "diseaseFromSourceMappedId": "MONDO_0013521", "variantHgvsId": "NC_000005.10:g.1268591G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000892763", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000172936", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_38140571_T_C", "variantRsId": "rs148149492", "cohortPhenotypes": ["Myd88 deficiency", "PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY", "Pyogenic bacterial infections due to MyD88 deficiency"], "diseaseFromSource": "Pyogenic bacterial infections due to MyD88 deficiency", "diseaseFromSourceId": "C2677092", "diseaseFromSourceMappedId": "Orphanet_183713", "variantHgvsId": "NC_000003.12:g.38140571T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": 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["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV002248369", "releaseDate": "2022-06-09", "targetFromSourceId": "ENSG00000144191", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_98396402_CAG_C", "cohortPhenotypes": ["Achromatopsia 2", "Colorblindness, total", "Rod monochromacy 2", "Rod monochromatism 2"], "diseaseFromSource": "Achromatopsia 2", "diseaseFromSourceId": "C1857618", "diseaseFromSourceMappedId": "MONDO_0018852", "variantHgvsId": "NC_000002.12:g.98396403AG[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000615626", "releaseDate": "2018-04-09", "targetFromSourceId": "ENSG00000145362", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "4_113358266_A_G", "variantRsId": "rs10013743", "cohortPhenotypes": ["ANKYRIN-B SYNDROME", "Cardiac arrhythmia, 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assertion provided", "studyId": "RCV000043259", "releaseDate": "2013-05-04", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "16_2086872_G_T", "variantRsId": "rs45517386", "cohortPhenotypes": ["Tuberous sclerosis", "Tuberous sclerosis syndrome"], "diseaseFromSource": "Tuberous sclerosis syndrome", "diseaseFromSourceId": "C0041341", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2086872G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["24747641"], "studyId": "RCV000128459", "releaseDate": "2014-07-06", "targetFromSourceId": "ENSG00000164588", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_45695795_G_A", "variantRsId": "rs587777492", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 24", "Epileptic encephalopathy, early 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"eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000132529", "releaseDate": "2014-08-06", "targetFromSourceId": "ENSG00000095002", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_47478436_A_G", "variantRsId": "rs587782891", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.47478436A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000163218", "releaseDate": "2015-03-24", "targetFromSourceId": "ENSG00000183765", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "22_28695212_A_G", "variantRsId": "rs373864492", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000022.11:g.28695212A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000192441", "releaseDate": "2015-10-05", "targetFromSourceId": "ENSG00000164190", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "5_37060996_G_GTA", "variantRsId": "rs797045784", "cohortPhenotypes": ["Brachmann de Lange syndrome", "Cornelia de Lange syndrome 1", "Typus degenerativus amstelodamensis"], "diseaseFromSource": "Cornelia de Lange syndrome 1", "diseaseFromSourceId": "C4551851", "diseaseFromSourceMappedId": "MONDO_0016033", "variantHgvsId": "NC_000005.10:g.37060997TA[3]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000193627", "releaseDate": "2015-10-05", "targetFromSourceId": "ENSG00000171100", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "X_150657853_C_CA", "variantRsId": "rs587783752", "cohortPhenotypes": ["MYOTUBULAR MYOPATHY 1", "Myotubular myopathy, X-linked", "Severe X-linked myotubular myopathy", "X-linked centronuclear myopathy"], "diseaseFromSource": "Severe X-linked myotubular myopathy", "diseaseFromSourceId": "C0410203", "diseaseFromSourceMappedId": "MONDO_0010683", "variantHgvsId": "NC_000023.11:g.150657856dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000219047", "releaseDate": "2016-05-29", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "2_214792384_G_A", "variantRsId": "rs876658571", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214792384G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000221614", "releaseDate": "2016-05-29", "targetFromSourceId": "ENSG00000183765", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "22_28711924_A_G", "variantRsId": "rs876659828", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000022.11:g.28711924A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000294299", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000189056", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "7_103989356_T_TGCCGCCGCCGCCGCCGCCGCC", "variantRsId": "rs55656324", "cohortPhenotypes": ["Lissencephaly, Recessive"], "diseaseFromSource": "Lissencephaly, Recessive", "diseaseFromSourceId": "CN239458", "diseaseFromSourceMappedId": "EFO_0011063", "variantHgvsId": "NC_000007.14:g.103989359CGC[15]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001832466", "releaseDate": "2022-02-13", "targetFromSourceId": "ENSG00000278570", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_71811830_C_T", "variantRsId": "rs990307718", "cohortPhenotypes": ["Enhanced S-cone syndrome"], "diseaseFromSource": "Enhanced S-cone syndrome", "diseaseFromSourceId": "C1849394", "diseaseFromSourceMappedId": "MONDO_0100289", "variantHgvsId": "NC_000015.10:g.71811830C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001877430", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000116688", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_12007101_T_G", "variantRsId": "rs1569870930", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 2", "Charcot-Marie-Tooth, Type 2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2", "diseaseFromSourceId": "C0270914", "diseaseFromSourceMappedId": "MONDO_0018993", "variantHgvsId": "NC_000001.11:g.12007101T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001897586", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000117984", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_1761355_G_A", "variantRsId": "rs868621027", "cohortPhenotypes": ["Ceroid storage disease", "Neuronal ceroid lipofuscinosis"], "diseaseFromSource": "Neuronal ceroid lipofuscinosis", "diseaseFromSourceId": "C0027877", "diseaseFromSourceMappedId": "MONDO_0016295", "variantHgvsId": "NC_000011.10:g.1761355G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001909944", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000124140", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "20_46035866_G_A", "variantRsId": "rs2084494146", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 34", "Early infantile epileptic encephalopathy 34"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 34", "diseaseFromSourceId": "C4225257", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000020.11:g.46035866G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001910376", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000184058", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "22_19764185_G_A", "variantRsId": "rs2145833805", "cohortPhenotypes": ["Catch22", "DiGeorge anomaly", "DiGeorge sequence", "DiGeorge syndrome", "Familial third and fourth pharyngeal pouch syndrome", "Hypoplasia of thymus and parathyroid", "Pharyngeal pouch syndrome", "Third and fourth pharyngeal pouch syndrome", "Thymic aplasia syndrome"], "diseaseFromSource": "DiGeorge syndrome", "diseaseFromSourceId": "C0012236", "diseaseFromSourceMappedId": "Orphanet_567", "variantHgvsId": "NC_000022.11:g.19764185G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001910376", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000184058", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "22_19764185_G_A", "variantRsId": "rs2145833805", "cohortPhenotypes": ["Catch22", "DiGeorge anomaly", "DiGeorge sequence", "DiGeorge syndrome", "Familial third and fourth pharyngeal pouch syndrome", "Hypoplasia of thymus and parathyroid", "Pharyngeal pouch syndrome", "Third and fourth pharyngeal pouch syndrome", "Thymic aplasia syndrome"], "diseaseFromSource": "DiGeorge syndrome", "diseaseFromSourceId": "C0012236", "diseaseFromSourceMappedId": "MONDO_0018923", "variantHgvsId": "NC_000022.11:g.19764185G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001914760", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000170876", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "3_14129450_T_TAAAACCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5", "Arrhythmogenic right ventricular cardiomyopathy, type 5", "Arrhythmogenic right ventricular dysplasia 5"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 5", "diseaseFromSourceId": "C1858379", "diseaseFromSourceMappedId": "Orphanet_247", "variantHgvsId": "NC_000003.12:g.14129451_14129465A[4]CCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACCAGCTCCCAG[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001914760", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000170876", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "3_14129450_T_TAAAACCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5", "Arrhythmogenic right ventricular cardiomyopathy, type 5", "Arrhythmogenic right ventricular dysplasia 5"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 5", "diseaseFromSourceId": "C1858379", "diseaseFromSourceMappedId": "MONDO_0011459", "variantHgvsId": "NC_000003.12:g.14129451_14129465A[4]CCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACCAGCTCCCAG[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001916404", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000151348", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_44108183_C_A", "variantRsId": "rs747429885", "cohortPhenotypes": ["EXOSTOSES, MULTIPLE, TYPE II", "Exostoses, multiple, type 2"], "diseaseFromSource": "Exostoses, multiple, type 2", "diseaseFromSourceId": "C1851413", "diseaseFromSourceMappedId": "MONDO_0007586", "variantHgvsId": "NC_000011.10:g.44108183C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic", "pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001932674", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000176715", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "16_89101089_T_A", "variantRsId": "rs1313088429", "cohortPhenotypes": ["Combined malonic and methylmalonic acidemia", "Combined malonic and methylmalonic aciduria"], "diseaseFromSource": "Combined malonic and methylmalonic acidemia", "diseaseFromSourceId": "C3280314", "diseaseFromSourceMappedId": "MONDO_0013661", "variantHgvsId": "NC_000016.10:g.89101089T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic", "pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001932674", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000176715", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "16_89101089_T_A", "variantRsId": "rs1313088429", "cohortPhenotypes": ["Combined malonic and methylmalonic acidemia", "Combined malonic and methylmalonic aciduria"], "diseaseFromSource": "Combined malonic and methylmalonic acidemia", "diseaseFromSourceId": "C3280314", "diseaseFromSourceMappedId": "Orphanet_289504", "variantHgvsId": "NC_000016.10:g.89101089T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001940016", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000131844", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_71652750_G_C", "variantRsId": "rs774241918", "cohortPhenotypes": ["3 alpha methylcrotonyl-CoA carboxylase 2 deficiency", "3 alpha methylcrotonylglycinuria 2", "3-methylcrotonyl-CoA carboxylase 2 deficiency", "MCC 2 deficiency", "METHYLCROTONYLGLYCINURIA, TYPE II", "Methylcrotonylglycinuria type 2"], "diseaseFromSource": "3-methylcrotonyl-CoA carboxylase 2 deficiency", "diseaseFromSourceId": "C1859499", "diseaseFromSourceMappedId": "Orphanet_6", "variantHgvsId": "NC_000005.10:g.71652750G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001958601", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "14_95106197_C_CGACCCGTT", "variantRsId": "rs2140000781", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome", "DICER1-related tumor predisposition"], "diseaseFromSource": "DICER1-related tumor predisposition", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95106199_95106200insCCCGTTGA"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001964433", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000184895", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "Y_2787392_G_T", "variantRsId": "rs2124486256", "cohortPhenotypes": ["46,XY SEX REVERSAL, SRY-RELATED", "46,XY sex reversal 1", "SRY-related 46,XY complete gonadal dysgenesis"], "diseaseFromSource": "46,XY sex reversal 1", "diseaseFromSourceId": "C2748896", "variantHgvsId": "NC_000024.10:g.2787392G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001973008", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000131089", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_63674039_T_G", "variantRsId": "rs2147307964", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 8", "Early infantile epileptic encephalopathy 8", "HYPEREKPLEXIA AND EPILEPSY"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 8", "diseaseFromSourceId": "C1845102", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000023.11:g.63674039T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002014266", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001821", "variantId": "16_2071891_C_CCTACTCCCTGCT", "variantRsId": "rs2151307509", "cohortPhenotypes": ["Tuberous sclerosis 2"], "diseaseFromSource": "Tuberous sclerosis 2", "diseaseFromSourceId": "C1860707", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2071894_2071905dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002016832", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000115295", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_29193462_G_C", "variantRsId": "rs878854659", "cohortPhenotypes": ["ALK-Related Neuroblastoma Susceptibility", "Neuroblastoma 3", "Neuroblastoma, susceptibility to, 3"], "diseaseFromSource": "Neuroblastoma, susceptibility to, 3", "diseaseFromSourceId": "C2751681", "diseaseFromSourceMappedId": "EFO_0000621", "variantHgvsId": "NC_000002.12:g.29193462G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002016832", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000171094", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_29193462_G_C", "variantRsId": "rs878854659", "cohortPhenotypes": ["ALK-Related Neuroblastoma Susceptibility", "Neuroblastoma 3", "Neuroblastoma, susceptibility to, 3"], "diseaseFromSource": "Neuroblastoma, susceptibility to, 3", "diseaseFromSourceId": "C2751681", "diseaseFromSourceMappedId": "EFO_0000621", "variantHgvsId": "NC_000002.12:g.29193462G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002016832", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000115295", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_29193462_G_C", "variantRsId": "rs878854659", "cohortPhenotypes": ["ALK-Related Neuroblastoma Susceptibility", "Neuroblastoma 3", "Neuroblastoma, susceptibility to, 3"], "diseaseFromSource": "Neuroblastoma, susceptibility to, 3", "diseaseFromSourceId": "C2751681", "diseaseFromSourceMappedId": "MONDO_0013083", "variantHgvsId": "NC_000002.12:g.29193462G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002016832", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000171094", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_29193462_G_C", "variantRsId": "rs878854659", "cohortPhenotypes": ["ALK-Related Neuroblastoma Susceptibility", "Neuroblastoma 3", "Neuroblastoma, susceptibility to, 3"], "diseaseFromSource": "Neuroblastoma, susceptibility to, 3", "diseaseFromSourceId": "C2751681", "diseaseFromSourceMappedId": "MONDO_0013083", "variantHgvsId": "NC_000002.12:g.29193462G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002021081", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000124587", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_42964862_C_T", "variantRsId": "rs374549180", "cohortPhenotypes": ["ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL", "ALD: Adrenoleukodystrophy, X-Linked", "INFANTILE PHYTANIC ACID STORAGE DISEASE", "PEROXISOME BIOGENESIS DISORDER (NALD/IRD)", "PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)", "Peroxisome biogenesis disorder", "Peroxisome biogenesis disorders, Zellweger syndrome spectrum"], "diseaseFromSource": "Peroxisome biogenesis disorder", "diseaseFromSourceId": "C1832200", "diseaseFromSourceMappedId": "Orphanet_79189", "variantHgvsId": "NC_000006.12:g.42964862C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002057147", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000115904", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_39120324_C_A", "variantRsId": "rs368569135", "cohortPhenotypes": ["Noonan spectrum disorder", "RASopathy", "rasopathies"], "diseaseFromSource": "RASopathy", "diseaseFromSourceId": "C5555857", "diseaseFromSourceMappedId": "EFO_1001502", "variantHgvsId": "NC_000002.12:g.39120324C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002058917", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000101901", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_111728246_G_A", "variantRsId": "rs751478782", "cohortPhenotypes": ["ALG13-CDG", "Congenital disorder of glycosylation, type Is", "Developmental and epileptic encephalopathy, 36", "Epileptic encephalopathy, early infantile, 36"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 36", "diseaseFromSourceId": "C4317295", "diseaseFromSourceMappedId": "MONDO_0010472", "variantHgvsId": "NC_000023.11:g.111728246G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002058917", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000101901", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_111728246_G_A", "variantRsId": "rs751478782", "cohortPhenotypes": ["ALG13-CDG", "Congenital disorder of glycosylation, type Is", "Developmental and epileptic encephalopathy, 36", "Epileptic encephalopathy, early infantile, 36"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 36", "diseaseFromSourceId": "C4317295", "diseaseFromSourceMappedId": "Orphanet_324422", "variantHgvsId": "NC_000023.11:g.111728246G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002078925", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000163513", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_30674146_C_T", "variantRsId": "rs2125438921", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "EFO_0009299", "variantHgvsId": "NC_000003.12:g.30674146C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002078925", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000163513", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_30674146_C_T", "variantRsId": "rs2125438921", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "Orphanet_285014", "variantHgvsId": "NC_000003.12:g.30674146C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002083531", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000114054", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "3_136256549_T_C", "variantRsId": "rs1941675458", "cohortPhenotypes": ["Glycinemia, ketotic", "Hyperglycinemia with ketoacidosis and leukopenia", "Ketotic hyperglycinemia", "Propionic acidemia"], "diseaseFromSource": "Propionic acidemia", "diseaseFromSourceId": "C0268579", "diseaseFromSourceMappedId": "MONDO_0011628", "variantHgvsId": "NC_000003.12:g.136256549T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002102897", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000135424", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "12_55688181_TCC_T", "variantRsId": "rs2135955167", "cohortPhenotypes": ["Congenital muscular dystrophy due to integrin alpha-7 deficiency", "Congenital muscular dystrophy with integrin alpha-7 deficiency", "MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY", "Muscular dystrophy, congenital, due to ITGA7 deficiency"], "diseaseFromSource": "Congenital muscular dystrophy due to integrin alpha-7 deficiency", "diseaseFromSourceId": "C2750786", "diseaseFromSourceMappedId": "MONDO_0013177", "variantHgvsId": "NC_000012.12:g.55688185_55688186del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002102897", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000135424", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "12_55688181_TCC_T", "variantRsId": "rs2135955167", "cohortPhenotypes": ["Congenital muscular dystrophy due to integrin alpha-7 deficiency", "Congenital muscular dystrophy with integrin alpha-7 deficiency", "MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY", "Muscular dystrophy, congenital, due to ITGA7 deficiency"], "diseaseFromSource": "Congenital muscular dystrophy due to integrin alpha-7 deficiency", "diseaseFromSourceId": "C2750786", "diseaseFromSourceMappedId": "Orphanet_34520", "variantHgvsId": "NC_000012.12:g.55688185_55688186del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002116314", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000198947", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "X_32343306_T_A", "variantRsId": "rs909026795", "cohortPhenotypes": ["Duchenne muscular dystrophy", "Muscular dystrophy, pseudohypertrophic progressive, Duchenne type"], "diseaseFromSource": "Duchenne muscular dystrophy", "diseaseFromSourceId": "C0013264", "diseaseFromSourceMappedId": "MONDO_0010679", "variantHgvsId": "NC_000023.11:g.32343306T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002200692", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000134330", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_9490537_AATTG_A", "variantRsId": "rs761385025", "cohortPhenotypes": ["Inflammatory skin and bowel disease, neonatal, 1"], "diseaseFromSource": "Inflammatory skin and bowel disease, neonatal, 1", "diseaseFromSourceId": "C3280501", "variantHgvsId": "NC_000002.12:g.9490540TGAT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002200692", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000151694", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_9490537_AATTG_A", "variantRsId": "rs761385025", "cohortPhenotypes": ["Inflammatory skin and bowel disease, neonatal, 1"], "diseaseFromSource": "Inflammatory skin and bowel disease, neonatal, 1", "diseaseFromSourceId": "C3280501", "variantHgvsId": "NC_000002.12:g.9490540TGAT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002205056", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000168542", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "2_188992883_T_G", "variantRsId": "rs2153502225", "cohortPhenotypes": ["Ehlers Danlos syndrome, Sack-Barabas type", "Ehlers Danlos syndrome, arterial type", "Ehlers Danlos syndrome, ecchymotic type", "Ehlers-Danlos Syndrome Type IV", "Ehlers-Danlos syndrome vascular type", "Ehlers-Danlos syndrome, type 4"], "diseaseFromSource": "Ehlers-Danlos syndrome, type 4", "diseaseFromSourceId": "C0268338", "diseaseFromSourceMappedId": "MONDO_0017314", "variantHgvsId": "NC_000002.12:g.188992883T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19405096"], "studyId": "RCV000003131", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000166311", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_6393961_A_C", "variantRsId": "rs267607074", "cohortPhenotypes": ["Niemann-Pick disease, type A", "SPHINGOMYELIN LIPIDOSIS", "SPHINGOMYELINASE DEFICIENCY"], "diseaseFromSource": "Niemann-Pick disease, type A", "diseaseFromSourceId": "C0268242", "diseaseFromSourceMappedId": "MONDO_0009756", "variantHgvsId": "NC_000011.10:g.6393961A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000202520", "releaseDate": "2015-12-21", "targetFromSourceId": "ENSG00000143147", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_168104855_A_T", "variantRsId": "rs200635937", "cohortPhenotypes": ["Pituitary stalk interruption syndrome"], "diseaseFromSource": "Pituitary stalk interruption syndrome", "diseaseFromSourceId": "C4053775", "diseaseFromSourceMappedId": "MONDO_0019828", "variantHgvsId": "NC_000001.11:g.168104855A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000230056", "releaseDate": "2016-07-03", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_31225257_T_C", "variantRsId": "rs878853870", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31225257T>C"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000337167", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_25302331_C_T", "variantRsId": "rs746748", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "MONDO_0012984", "variantHgvsId": "NC_000020.11:g.25302331C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000337167", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_25302331_C_T", "variantRsId": "rs746748", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "Orphanet_171848", "variantHgvsId": "NC_000020.11:g.25302331C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000363434", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "14_23429785_G_A", "variantRsId": "rs2231126", "cohortPhenotypes": ["Laing distal myopathy", "Laing early-onset distal myopathy", "MYH7-related skeletal myopathy", "MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT", "MYOPATHY, LATE DISTAL HEREDITARY", "Myopathy, distal, 1"], "diseaseFromSource": "MYH7-related skeletal myopathy", "diseaseFromSourceId": "C4552004", "diseaseFromSourceMappedId": "MONDO_0008050", "variantHgvsId": "NC_000014.9:g.23429785G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000363434", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "14_23429785_G_A", "variantRsId": "rs2231126", "cohortPhenotypes": ["Laing distal myopathy", "Laing early-onset distal myopathy", "MYH7-related skeletal myopathy", "MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT", "MYOPATHY, LATE DISTAL HEREDITARY", "Myopathy, distal, 1"], "diseaseFromSource": "MYH7-related skeletal myopathy", "diseaseFromSourceId": "C4552004", "diseaseFromSourceMappedId": "EFO_0004145", "variantHgvsId": "NC_000014.9:g.23429785G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000365593", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "14_95086682_T_C", "variantRsId": "rs765598296", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome"], "diseaseFromSource": "DICER1 syndrome", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95086682T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000366885", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152331354_C_T", "variantRsId": "rs139075013", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Autosomal recessive ataxia, Beauce type", "diseaseFromSourceId": "C1853116", "diseaseFromSourceMappedId": "MONDO_0012549", "variantHgvsId": "NC_000006.12:g.152331354C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000366885", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152331354_C_T", "variantRsId": "rs139075013", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Autosomal recessive ataxia, Beauce type", "diseaseFromSourceId": "C1853116", "diseaseFromSourceMappedId": "Orphanet_88644", "variantHgvsId": "NC_000006.12:g.152331354C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000372271", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "16_2077592_C_T", "variantRsId": "rs528706539", "cohortPhenotypes": ["Tuberous sclerosis", "Tuberous sclerosis syndrome"], "diseaseFromSource": "Tuberous sclerosis syndrome", "diseaseFromSourceId": "C0041341", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2077592C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000387283", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000073282", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_189894797_T_A", "variantRsId": "rs886058226", "cohortPhenotypes": ["TP63-Related Spectrum Disorders"], "diseaseFromSource": "TP63-Related Spectrum Disorders", "diseaseFromSourceId": "CN239305", "variantHgvsId": "NC_000003.12:g.189894797T>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000475349", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "14_95099771_C_CACACACACACACACAA", "variantRsId": "rs763704682", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome"], "diseaseFromSource": "DICER1 syndrome", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95099772AC[7]AAA[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000531200", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_61847140_G_A", "variantRsId": "rs758851721", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000017.11:g.61847140G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000531200", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_61847140_G_A", "variantRsId": "rs758851721", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Fanconi anemia complementation group J", "diseaseFromSourceId": "C1836860", "diseaseFromSourceMappedId": "MONDO_0012187", "variantHgvsId": "NC_000017.11:g.61847140G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000556753", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "14_95099771_C_CACACACACACACAA", "variantRsId": "rs763704682", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome"], "diseaseFromSource": "DICER1 syndrome", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95099772AC[6]AAA[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000571846", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_95124382_C_T", "variantRsId": "rs1347290726", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000014.9:g.95124382C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000608662", "releaseDate": "2018-04-09", "targetFromSourceId": "ENSG00000160299", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "21_46363881_T_C", "variantRsId": "rs8131546", "cohortPhenotypes": ["MOPD 2", "MOPD II", "Microcephalic osteodysplastic primordial dwarfism type 2", "Microcephalic osteodysplastic primordial dwarfism type II", "Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities", "OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II", "Osteodysplastic primordial dwarfism type 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osteodysplastic primordial dwarfism type II", "diseaseFromSourceId": "C0432246", "diseaseFromSourceMappedId": "MONDO_0008872", "variantHgvsId": "NC_000021.9:g.46363881T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000772538", "releaseDate": "2019-05-20", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_214780874_TAG_T", "variantRsId": "rs1482641121", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214780876_214780877del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000775105", "releaseDate": "2019-05-20", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "2_214745083_C_T", "variantRsId": "rs878854003", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214745083C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339422", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000187240", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_103455224_T_C", "variantRsId": "rs202199079", "cohortPhenotypes": ["Short rib-polydactyly syndrome"], "diseaseFromSource": "Short rib-polydactyly syndrome", "diseaseFromSourceId": "C0036996", "diseaseFromSourceMappedId": "MONDO_0015461", "variantHgvsId": "NC_000011.10:g.103455224T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000394523", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000165029", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "9_104837109_G_A", "variantRsId": "rs2297399", "cohortPhenotypes": ["Hypoalphalipoproteinemia, primary, 1"], "diseaseFromSource": "Hypoalphalipoproteinemia, primary, 1", "diseaseFromSourceId": "C5231558", "diseaseFromSourceMappedId": "MONDO_0100189", "variantHgvsId": "NC_000009.12:g.104837109G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign", "likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000526798", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000143337", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "1_179914055_G_A", "variantRsId": "rs2274955", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Y", "Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures", "Muscular dystrophy, limb-girdle, type 2y"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Y", "diseaseFromSourceId": "C4511482", "diseaseFromSourceMappedId": "MONDO_0014900", "variantHgvsId": "NC_000001.11:g.179914055G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign", "likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000526798", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000143337", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "1_179914055_G_A", "variantRsId": "rs2274955", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Y", "Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures", "Muscular dystrophy, limb-girdle, type 2y"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Y", "diseaseFromSourceId": "C4511482", "diseaseFromSourceMappedId": "EFO_0000310", "variantHgvsId": "NC_000001.11:g.179914055G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000530510", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000168394", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_32847125_C_T", "variantRsId": "rs41551515", "cohortPhenotypes": ["BARE LYMPHOCYTE SYNDROME, TYPE I", "BLS, TYPE I", "Bare lymphocyte syndrome type 1", "HLA CLASS I DEFICIENCY", "MHC class I deficiency"], "diseaseFromSource": "MHC class I deficiency", "diseaseFromSourceId": "C1858266", "diseaseFromSourceMappedId": "Orphanet_572", "variantHgvsId": "NC_000006.12:g.32847125C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000530510", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000240065", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "6_32847125_C_T", "variantRsId": "rs41551515", "cohortPhenotypes": ["BARE LYMPHOCYTE SYNDROME, TYPE I", "BLS, TYPE I", "Bare lymphocyte syndrome type 1", "HLA CLASS I 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"datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000530510", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000240065", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "6_32847125_C_T", "variantRsId": "rs41551515", "cohortPhenotypes": ["BARE LYMPHOCYTE SYNDROME, TYPE I", "BLS, TYPE I", "Bare lymphocyte syndrome type 1", "HLA CLASS I DEFICIENCY", "MHC class I deficiency"], "diseaseFromSource": "MHC class I deficiency", "diseaseFromSourceId": "C1858266", "diseaseFromSourceMappedId": "MONDO_0011476", "variantHgvsId": "NC_000006.12:g.32847125C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000632596", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_31170004_TTAAATG_T", "variantRsId": "rs1555607130", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31170007_31170012del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000644974", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000127838", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_218341552_C_T", "variantRsId": "rs761712009", "cohortPhenotypes": ["Paroxysmal non-kinesigenic dyskinesia", "Paroxysmal nonkinesigenic dyskinesia"], "diseaseFromSource": "Paroxysmal nonkinesigenic dyskinesia", "diseaseFromSourceId": "C1869117", "diseaseFromSourceMappedId": "Orphanet_98810", "variantHgvsId": "NC_000002.12:g.218341552C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000644974", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000127838", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_218341552_C_T", "variantRsId": "rs761712009", "cohortPhenotypes": ["Paroxysmal non-kinesigenic dyskinesia", "Paroxysmal nonkinesigenic dyskinesia"], "diseaseFromSource": "Paroxysmal nonkinesigenic dyskinesia", "diseaseFromSourceId": "C1869117", "diseaseFromSourceMappedId": "MONDO_0700088", "variantHgvsId": "NC_000002.12:g.218341552C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000687401", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000065534", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_123640393_G_C", "variantRsId": "rs1399378417", "cohortPhenotypes": ["AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM", "Aortic aneurysm, familial thoracic 7"], "diseaseFromSource": "Aortic aneurysm, familial thoracic 7", "diseaseFromSourceId": "C3151077", "diseaseFromSourceMappedId": "MONDO_0019625", "variantHgvsId": "NC_000003.12:g.123640393G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000697073", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_166277279_CA_C", "variantRsId": "rs753900410", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "Orphanet_970", "variantHgvsId": "NC_000002.12:g.166277281del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000697073", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_166277279_CA_C", "variantRsId": "rs753900410", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "MONDO_0015364", "variantHgvsId": "NC_000002.12:g.166277281del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000697073", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_166277279_CA_C", "variantRsId": "rs753900410", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Generalized epilepsy with febrile seizures plus, type 7", "diseaseFromSourceId": "C2751778", "diseaseFromSourceMappedId": "Orphanet_36387", "variantHgvsId": "NC_000002.12:g.166277281del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000770196", "releaseDate": "2019-05-06", "targetFromSourceId": "ENSG00000172399", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_119136554_A_G", "variantRsId": "rs76757102", "cohortPhenotypes": ["Cardiomyopathies", "Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy", "diseaseFromSourceId": "C0878544", "diseaseFromSourceMappedId": "EFO_0000318", "variantHgvsId": "NC_000004.12:g.119136554A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting classifications", "studyId": "RCV000779393", "releaseDate": "2019-05-27", "targetFromSourceId": "ENSG00000206561", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "3_15458185_C_T", "variantRsId": "rs757060689", "cohortPhenotypes": ["Congenital myasthenic syndrome 5", "Endplate acetylcholinesterase deficiency"], "diseaseFromSource": "Congenital myasthenic syndrome 5", "diseaseFromSourceId": "C1864233", "diseaseFromSourceMappedId": "Orphanet_98915", "variantHgvsId": "NC_000003.12:g.15458185C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000795389", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000160957", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_144513364_C_T", "variantRsId": "rs1385567680", "cohortPhenotypes": ["Baller-Gerold syndrome", "Craniosynostosis radial aplasia syndrome", "Craniosynostosis with radial defects"], "diseaseFromSource": "Baller-Gerold syndrome", "diseaseFromSourceId": "C0265308", "diseaseFromSourceMappedId": "MONDO_0009039", "variantHgvsId": "NC_000008.11:g.144513364C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000808670", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "17_61799278_GTTCTTTC_TAT", "variantRsId": "rs1603342339", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000017.11:g.61799278_61799285delinsTAT"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000808670", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "17_61799278_GTTCTTTC_TAT", "variantRsId": "rs1603342339", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Fanconi anemia complementation group J", "diseaseFromSourceId": "C1836860", "diseaseFromSourceMappedId": "MONDO_0012187", "variantHgvsId": "NC_000017.11:g.61799278_61799285delinsTAT"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001013688", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61780280_T_C", "variantRsId": "rs1603333030", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.61780280T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001023714", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_214809519_C_A", "variantRsId": "rs864622419", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214809519C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001049625", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000198626", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_237445471_G_A", "variantRsId": "rs371121679", "cohortPhenotypes": ["Catecholamine-induced polymorphic ventricular tachycardia", "Catecholaminergic polymorphic ventricular tachycardia", "Familial polymorphic ventricular tachycardia", "Polymorphic catecholergic ventricular tachycardia"], "diseaseFromSource": "Catecholaminergic polymorphic ventricular tachycardia", "diseaseFromSourceId": "C1631597", "diseaseFromSourceMappedId": "MONDO_0017990", "variantHgvsId": "NC_000001.11:g.237445471G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001079914", "releaseDate": "2020-05-04", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_99467624_C_G", "variantRsId": "rs149478021", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", "diseaseFromSourceId": "C0265223", "diseaseFromSourceMappedId": "MONDO_0008999", "variantHgvsId": "NC_000008.11:g.99467624C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001301713", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000198626", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_237614188_A_C", "variantRsId": "rs760479688", "cohortPhenotypes": ["Catecholamine-induced polymorphic ventricular tachycardia", "Catecholaminergic polymorphic ventricular tachycardia", "Familial polymorphic ventricular tachycardia", "Polymorphic catecholergic ventricular tachycardia"], "diseaseFromSource": "Catecholaminergic polymorphic ventricular tachycardia", "diseaseFromSourceId": "C1631597", "diseaseFromSourceMappedId": "MONDO_0017990", "variantHgvsId": "NC_000001.11:g.237614188A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001358788", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000105976", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_116740007_C_T", "variantRsId": "rs771272439", "cohortPhenotypes": ["Renal cell carcinoma"], "diseaseFromSource": "Renal cell carcinoma", "diseaseFromSourceId": "C0007134", "diseaseFromSourceMappedId": "EFO_0000681", "variantHgvsId": "NC_000007.14:g.116740007C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001361224", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000144554", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_10049425_G_A", "cohortPhenotypes": ["Fanconi anemia", "Fanconi pancytopenia", "Fanconi's anemia"], "diseaseFromSource": "Fanconi anemia", "diseaseFromSourceId": "C0015625", "diseaseFromSourceMappedId": "MONDO_0019391", "variantHgvsId": "NC_000003.12:g.10049425G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001376273", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000163913", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_129476757_G_A", "variantRsId": "rs150550701", "cohortPhenotypes": ["Rod-cone dystrophy"], "diseaseFromSource": "Rod-cone dystrophy", "diseaseFromSourceId": "C4551714", "diseaseFromSourceMappedId": "Orphanet_1872", "variantHgvsId": "NC_000003.12:g.129476757G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001498770", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000126091", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_43920904_C_T", "variantRsId": "rs149000966", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000001.11:g.43920904C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001498770", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000126091", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_43920904_C_T", "variantRsId": "rs149000966", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000001.11:g.43920904C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001807043", "releaseDate": "2022-02-20", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_156829362_A_G", "variantRsId": "rs17318151", "cohortPhenotypes": ["Coffin-Siris syndrome 1", "Mental retardation, autosomal dominant 12"], "diseaseFromSource": "Coffin-Siris syndrome 1", "diseaseFromSourceId": "C3281201", "diseaseFromSourceMappedId": "MONDO_0015452", "variantHgvsId": "NC_000006.12:g.156829362A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001810029", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000075043", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63472400_C_T", "variantRsId": "rs2082239153", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 7", "Early infantile epileptic encephalopathy 7", "KCNQ2-Related Neonatal Epileptic Encephalopathy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 7", "diseaseFromSourceId": "C3150986", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000020.11:g.63472400C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001860782", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61743089_C_A", "variantRsId": "rs1603303846", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000017.11:g.61743089C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001860782", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61743089_C_A", "variantRsId": "rs1603303846", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Fanconi anemia complementation group J", "diseaseFromSourceId": "C1836860", "diseaseFromSourceMappedId": "MONDO_0012187", "variantHgvsId": "NC_000017.11:g.61743089C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001926107", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000144285", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165991430_C_A", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000002.12:g.165991430C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001926107", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000144285", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165991430_C_A", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000002.12:g.165991430C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001930932", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000197694", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_128626514_C_T", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000009.12:g.128626514C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001930932", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000197694", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_128626514_C_T", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000009.12:g.128626514C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001958601", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "14_95106197_C_CGACCCGTT", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome"], "diseaseFromSource": "DICER1 syndrome", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95106199_95106200insCCCGTTGA"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002042360", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000083093", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_23624082_G_T", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000016.10:g.23624082G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002083531", "releaseDate": "2022-06-24", "targetFromSourceId": "ENSG00000114054", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "3_136256549_T_C", "cohortPhenotypes": ["Glycinemia, ketotic", "Hyperglycinemia with ketoacidosis and leukopenia", "Ketotic hyperglycinemia", "Propionic acidemia"], "diseaseFromSource": "Propionic acidemia", "diseaseFromSourceId": "C0268579", "diseaseFromSourceMappedId": "MONDO_0011628", "variantHgvsId": "NC_000003.12:g.136256549T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002170158", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000007402", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "3_50366179_G_A", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000003.12:g.50366179G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002170158", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000007402", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "3_50366179_G_A", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000003.12:g.50366179G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002182174", "releaseDate": "2022-06-15", "targetFromSourceId": "ENSG00000198626", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "1_237806124_T_C", "cohortPhenotypes": ["Catecholamine-induced polymorphic ventricular tachycardia", "Catecholaminergic polymorphic ventricular tachycardia", "Familial polymorphic ventricular tachycardia", "Polymorphic catecholergic ventricular tachycardia"], "diseaseFromSource": "Catecholaminergic polymorphic ventricular tachycardia", "diseaseFromSourceId": "C1631597", "diseaseFromSourceMappedId": "MONDO_0017990", "variantHgvsId": "NC_000001.11:g.237806124T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002244130", "releaseDate": "2022-05-27", "targetFromSourceId": "ENSG00000164692", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "7_94418537_CA_C", "cohortPhenotypes": ["EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT", "Ehlers-danlos syndrome, arthrochalasia type, 2"], "diseaseFromSource": "Ehlers-danlos syndrome, arthrochalasia type, 2", "diseaseFromSourceId": "CN293783", "diseaseFromSourceMappedId": "Orphanet_1899", "variantHgvsId": "NC_000007.14:g.94418538del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002244189", "releaseDate": "2022-05-27", "targetFromSourceId": "ENSG00000188994", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_87254902_C_T", "cohortPhenotypes": ["Intellectual developmental disorder, autosomal dominant 64", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 64"], "diseaseFromSource": "Intellectual developmental disorder, autosomal dominant 64", "diseaseFromSourceId": "C5543067", "variantHgvsId": "NC_000006.12:g.87254902C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001770008", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000156531", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "X_134377702_G_T", "cohortPhenotypes": ["Borjeson Syndrome", "Borjeson-Forssman-Lehmann syndrome", "MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS", "MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE", "Mental deficiency, epilepsy and endocrine disorders"], "diseaseFromSource": "Borjeson-Forssman-Lehmann syndrome", "diseaseFromSourceId": "C0265339", "diseaseFromSourceMappedId": "MONDO_0010537", "variantHgvsId": "NC_000023.11:g.134377702G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001783910", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000100106", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "22_37724732_C_T", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 28", "Deafness, autosomal recessive 28"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 28", "diseaseFromSourceId": "C1853276", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000022.11:g.37724732C>T"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001801320", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000115718", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_127428543_G_A", "cohortPhenotypes": ["PROC DEFICIENCY, AUTOSOMAL DOMINANT", "PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT", "Thrombophilia due to protein C deficiency, autosomal dominant", "Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant"], "diseaseFromSource": "Thrombophilia due to protein C deficiency, autosomal dominant", "diseaseFromSourceId": "C2674321", "diseaseFromSourceMappedId": "MONDO_0019145", "variantHgvsId": "NC_000002.12:g.127428543G>A"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001801320", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000115718", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_127428543_G_A", "cohortPhenotypes": ["PROC DEFICIENCY, AUTOSOMAL DOMINANT", "PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT", "Thrombophilia due to protein C deficiency, autosomal dominant", "Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant"], "diseaseFromSource": "Thrombophilia due to protein C deficiency, autosomal dominant", "diseaseFromSourceId": "C2674321", "diseaseFromSourceMappedId": "Orphanet_745", "variantHgvsId": "NC_000002.12:g.127428543G>A"} -{"alleleOrigins": ["maternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001807686", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000141052", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "17_12744433_TTAAG_T", "cohortPhenotypes": ["Megabladder, congenital"], "diseaseFromSource": "Megabladder, congenital", "diseaseFromSourceId": "C5231472", "diseaseFromSourceMappedId": "EFO_0010655", "variantHgvsId": "NC_000017.11:g.12744435AAGT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001857835", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000105397", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "19_10357853_TGCTTAG_T", "variantRsId": "rs773966828", "cohortPhenotypes": ["HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE", "HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE", "Immunodeficiency 35", "Susceptibility to infection due to TYK2 deficiency", "TYK2 DEFICIENCY", "Tyrosine kinase 2 deficiency"], "diseaseFromSource": "Immunodeficiency 35", "diseaseFromSourceId": "C1969086", "diseaseFromSourceMappedId": "Orphanet_169446", "variantHgvsId": "NC_000019.10:g.10357857_10357862del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001857835", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000105397", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "19_10357853_TGCTTAG_T", "variantRsId": "rs773966828", "cohortPhenotypes": ["HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE", "HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE", "Immunodeficiency 35", "Susceptibility to infection due to TYK2 deficiency", "TYK2 DEFICIENCY", "Tyrosine kinase 2 deficiency"], "diseaseFromSource": "Immunodeficiency 35", "diseaseFromSourceId": "C1969086", "diseaseFromSourceMappedId": "Orphanet_331226", "variantHgvsId": "NC_000019.10:g.10357857_10357862del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001860713", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000165699", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_132905935_G_A", "variantRsId": "rs1588310178", "cohortPhenotypes": ["Tuberous sclerosis 1"], "diseaseFromSource": "Tuberous sclerosis 1", "diseaseFromSourceId": "C1854465", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000009.12:g.132905935G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001865311", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "11_108243952_G_A", "variantRsId": "rs778624615", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108243952G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001866374", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000277027", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "9_35658026_C_CAGCTTCACAGAGTAGCTTCACAGAGTAGCTTCACAGAGT", "cohortPhenotypes": ["Anauxetic dysplasia", "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ANAUXETIC TYPE", "SPONDYLOMETAEPIPHYSEAL DYSPLASIA, ANAUXETIC TYPE"], "diseaseFromSource": "Anauxetic dysplasia", "diseaseFromSourceId": "C1846796", "diseaseFromSourceMappedId": "MONDO_0011773", "variantHgvsId": "NC_000009.12:g.35658029CTTCACAGAGTAG[4]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001877430", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000116688", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_12007101_T_G", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 2", "Charcot-Marie-Tooth, Type 2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2", "diseaseFromSourceId": "C0270914", "diseaseFromSourceMappedId": "MONDO_0018993", "variantHgvsId": "NC_000001.11:g.12007101T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001882243", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000138686", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_121847458_G_T", "cohortPhenotypes": ["Bardet-Biedl syndrome"], "diseaseFromSource": "Bardet-Biedl syndrome", "diseaseFromSourceId": "C0752166", "diseaseFromSourceMappedId": "MONDO_0015229", "variantHgvsId": "NC_000004.12:g.121847458G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001893529", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000162004", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_724754_C_A", "cohortPhenotypes": ["Congenital myopathy with internal nuclei and atypical cores", "Myopathy, centronuclear, 4"], "diseaseFromSource": "Congenital myopathy with internal nuclei and atypical cores", "diseaseFromSourceId": "C3553709", "diseaseFromSourceMappedId": "MONDO_0013890", "variantHgvsId": "NC_000016.10:g.724754C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001893529", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000162004", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_724754_C_A", "cohortPhenotypes": ["Congenital myopathy with internal nuclei and atypical cores", "Myopathy, centronuclear, 4"], "diseaseFromSource": "Congenital myopathy with internal nuclei and atypical cores", "diseaseFromSourceId": "C3553709", "diseaseFromSourceMappedId": "Orphanet_595", "variantHgvsId": "NC_000016.10:g.724754C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001897586", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000117984", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_1761355_G_A", "cohortPhenotypes": ["Ceroid storage disease", "Neuronal ceroid lipofuscinosis"], "diseaseFromSource": "Neuronal ceroid lipofuscinosis", "diseaseFromSourceId": "C0027877", "diseaseFromSourceMappedId": "MONDO_0016295", "variantHgvsId": "NC_000011.10:g.1761355G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001901774", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000204843", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "2_74370827_T_C", "cohortPhenotypes": ["AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL", "Amyotrophic lateral sclerosis type 1", "HMN VIIB", "LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB", "Neuronopathy, distal hereditary motor, type 7B", "Parkinsonism with alveolar hypoventilation and mental depression", "Perry syndrome"], "diseaseFromSource": "Neuronopathy, distal hereditary motor, type 7B", "diseaseFromSourceId": "C1843315", "variantHgvsId": "NC_000002.12:g.74370827T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001901774", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000204843", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "2_74370827_T_C", "cohortPhenotypes": ["AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL", "Amyotrophic lateral sclerosis type 1", "HMN VIIB", "LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB", "Neuronopathy, distal hereditary motor, type 7B", "Parkinsonism with alveolar hypoventilation and mental depression", "Perry syndrome"], "diseaseFromSource": "Amyotrophic lateral sclerosis type 1", "diseaseFromSourceId": "C1862939", "diseaseFromSourceMappedId": "MONDO_0004976", "variantHgvsId": "NC_000002.12:g.74370827T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001901774", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000204843", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "2_74370827_T_C", "cohortPhenotypes": ["AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL", "Amyotrophic lateral sclerosis type 1", "HMN VIIB", "LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB", "Neuronopathy, distal hereditary motor, type 7B", "Parkinsonism with alveolar hypoventilation and mental depression", "Perry syndrome"], "diseaseFromSource": "Perry syndrome", "diseaseFromSourceId": "C1868594", "diseaseFromSourceMappedId": "MONDO_0008201", "variantHgvsId": "NC_000002.12:g.74370827T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001904797", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000054523", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "1_10376541_A_G", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 2", "Charcot-Marie-Tooth, Type 2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2", "diseaseFromSourceId": "C0270914", "diseaseFromSourceMappedId": "MONDO_0018993", "variantHgvsId": "NC_000001.11:g.10376541A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001908759", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000164751", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "8_76983607_AT_A", "cohortPhenotypes": ["Peroxisome biogenesis disorder 5A (Zellweger)"], "diseaseFromSource": "Peroxisome biogenesis disorder 5A (Zellweger)", "diseaseFromSourceId": "C3553940", "diseaseFromSourceMappedId": "Orphanet_912", "variantHgvsId": "NC_000008.11:g.76983608del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001909944", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000124140", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "20_46035866_G_A", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 34", "Early infantile epileptic encephalopathy 34"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 34", "diseaseFromSourceId": "C4225257", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000020.11:g.46035866G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001910376", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000184058", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "22_19764185_G_A", "cohortPhenotypes": ["Catch22", "DiGeorge anomaly", "DiGeorge sequence", "DiGeorge syndrome", "Familial third and fourth pharyngeal pouch syndrome", "Hypoplasia of thymus and parathyroid", "Pharyngeal pouch syndrome", "Third and fourth pharyngeal pouch syndrome", "Thymic aplasia syndrome"], "diseaseFromSource": "DiGeorge syndrome", "diseaseFromSourceId": "C0012236", "diseaseFromSourceMappedId": "Orphanet_567", "variantHgvsId": "NC_000022.11:g.19764185G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001910376", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000184058", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "22_19764185_G_A", "cohortPhenotypes": ["Catch22", "DiGeorge anomaly", "DiGeorge sequence", "DiGeorge syndrome", "Familial third and fourth pharyngeal pouch syndrome", "Hypoplasia of thymus and parathyroid", "Pharyngeal pouch syndrome", "Third and fourth pharyngeal pouch syndrome", "Thymic aplasia syndrome"], "diseaseFromSource": "DiGeorge syndrome", "diseaseFromSourceId": "C0012236", "diseaseFromSourceMappedId": "MONDO_0018923", "variantHgvsId": "NC_000022.11:g.19764185G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001916404", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000151348", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_44108183_C_A", "cohortPhenotypes": ["EXOSTOSES, MULTIPLE, TYPE II", "Exostoses, multiple, type 2"], "diseaseFromSource": "Exostoses, multiple, type 2", "diseaseFromSourceId": "C1851413", "diseaseFromSourceMappedId": "MONDO_0007586", "variantHgvsId": "NC_000011.10:g.44108183C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001925894", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000163913", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_129476350_C_G", "cohortPhenotypes": ["Cranioectodermal dysplasia 1", "LEVIN SYNDROME I", "Levin syndrome 1"], "diseaseFromSource": "Cranioectodermal dysplasia 1", "diseaseFromSourceId": "C0432235", "diseaseFromSourceMappedId": "MONDO_0009032", "variantHgvsId": "NC_000003.12:g.129476350C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001929939", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000136928", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_98708574_G_C", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000009.12:g.98708574G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001932674", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000176715", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "16_89101089_T_A", "cohortPhenotypes": ["Combined malonic and methylmalonic acidemia", "Combined malonic and methylmalonic aciduria"], "diseaseFromSource": "Combined malonic and methylmalonic acidemia", "diseaseFromSourceId": "C3280314", "diseaseFromSourceMappedId": "MONDO_0013661", "variantHgvsId": "NC_000016.10:g.89101089T>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001932674", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000176715", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "16_89101089_T_A", "cohortPhenotypes": ["Combined malonic and methylmalonic acidemia", "Combined malonic and methylmalonic aciduria"], "diseaseFromSource": "Combined malonic and methylmalonic acidemia", "diseaseFromSourceId": "C3280314", "diseaseFromSourceMappedId": "Orphanet_289504", "variantHgvsId": "NC_000016.10:g.89101089T>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001933777", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000102908", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "16_69691095_T_TG", "cohortPhenotypes": ["Immunodeficiency"], "diseaseFromSource": "Immunodeficiency", "diseaseFromSourceId": "C0021051", "diseaseFromSourceMappedId": "MONDO_0015823", "variantHgvsId": "NC_000016.10:g.69691096dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001938611", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000162688", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_99913677_G_A", "cohortPhenotypes": ["Amylo-1,6-glucosidase deficiency", "Cori disease", "Forbes disease", "Glycogen debrancher deficiency", "Glycogen storage disease type 3", "Glycogen storage disease type III", "Limit dextrinosis"], "diseaseFromSource": "Glycogen storage disease type III", "diseaseFromSourceId": "C0017922", "diseaseFromSourceMappedId": "MONDO_0009291", "variantHgvsId": "NC_000001.11:g.99913677G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001940016", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000131844", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_71652750_G_C", "cohortPhenotypes": ["3 alpha methylcrotonyl-CoA carboxylase 2 deficiency", "3 alpha methylcrotonylglycinuria 2", "3-methylcrotonyl-CoA carboxylase 2 deficiency", "MCC 2 deficiency", "METHYLCROTONYLGLYCINURIA, TYPE II", "Methylcrotonylglycinuria type 2"], "diseaseFromSource": "3-methylcrotonyl-CoA carboxylase 2 deficiency", "diseaseFromSourceId": "C1859499", "diseaseFromSourceMappedId": "Orphanet_6", "variantHgvsId": "NC_000005.10:g.71652750G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001947467", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000137834", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "15_66703348_CGGT_C", "cohortPhenotypes": ["Aortic valve disease 2"], "diseaseFromSource": "Aortic valve disease 2", "diseaseFromSourceId": "C3542024", "diseaseFromSourceMappedId": "MONDO_0007194", "variantHgvsId": "NC_000015.10:g.66703351_66703353del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001949887", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000167323", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_4070116_G_A", "cohortPhenotypes": ["Combined immunodeficiency due to STIM1 deficiency", "IMMUNODEFICIENCY 10", "Immune dysfunction with T-cell inactivation due to calcium entry defect 2", "Myopathy with tubular aggregates", "STIM1 DEFICIENCY", "Stormorken syndrome", "THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS", "Tubular Aggregate Myopathy"], "diseaseFromSource": "Stormorken syndrome", "diseaseFromSourceId": "C1861451", "diseaseFromSourceMappedId": "MONDO_0008497", "variantHgvsId": "NC_000011.10:g.4070116G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001949887", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000167323", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_4070116_G_A", "cohortPhenotypes": ["Combined immunodeficiency due to STIM1 deficiency", "IMMUNODEFICIENCY 10", "Immune dysfunction with T-cell inactivation due to calcium entry defect 2", "Myopathy with tubular aggregates", "STIM1 DEFICIENCY", "Stormorken syndrome", "THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS", "Tubular Aggregate Myopathy"], "diseaseFromSource": "Combined immunodeficiency due to STIM1 deficiency", "diseaseFromSourceId": "C2748557", "diseaseFromSourceMappedId": "MONDO_0013008", "variantHgvsId": "NC_000011.10:g.4070116G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001949887", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000167323", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_4070116_G_A", "cohortPhenotypes": ["Combined immunodeficiency due to STIM1 deficiency", "IMMUNODEFICIENCY 10", "Immune dysfunction with T-cell inactivation due to calcium entry defect 2", "Myopathy with tubular aggregates", "STIM1 DEFICIENCY", "Stormorken syndrome", "THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS", "Tubular Aggregate Myopathy"], "diseaseFromSource": "Combined immunodeficiency due to STIM1 deficiency", "diseaseFromSourceId": "C2748557", "diseaseFromSourceMappedId": "Orphanet_169090", "variantHgvsId": "NC_000011.10:g.4070116G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001949887", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000167323", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_4070116_G_A", "cohortPhenotypes": ["Combined immunodeficiency due to STIM1 deficiency", "IMMUNODEFICIENCY 10", "Immune dysfunction with T-cell inactivation due to calcium entry defect 2", "Myopathy with tubular aggregates", "STIM1 DEFICIENCY", "Stormorken syndrome", "THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS", "Tubular Aggregate Myopathy"], "diseaseFromSource": "Combined 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"MONDO_0008051", "variantHgvsId": "NC_000011.10:g.4070116G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001952927", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000013375", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_83188646_T_C", "cohortPhenotypes": ["IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT", "IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME", "Immunodeficiency 23"], "diseaseFromSource": "Immunodeficiency 23", "diseaseFromSourceId": "C4014371", "diseaseFromSourceMappedId": "MONDO_0015823", "variantHgvsId": "NC_000006.12:g.83188646T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001953552", "releaseDate": 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"C1970298", "diseaseFromSourceMappedId": "Orphanet_871", "variantHgvsId": "NC_000019.10:g.49182639G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001957854", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000168434", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_23434676_C_T", "cohortPhenotypes": ["CDG 2E", "CDG IIe", "COG7 congenital disorder of glycosylation", "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe", "Congenital disorder of glycosylation type 2E"], "diseaseFromSource": "COG7 congenital disorder of glycosylation", "diseaseFromSourceId": "C2931010", "diseaseFromSourceMappedId": "MONDO_0012118", "variantHgvsId": "NC_000016.10:g.23434676C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain 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"Orphanet_1930", "variantHgvsId": "NC_000014.9:g.102897321C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001973008", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000131089", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_63674039_T_G", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 8", "Early infantile epileptic encephalopathy 8", "HYPEREKPLEXIA AND EPILEPSY"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 8", "diseaseFromSourceId": "C1845102", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000023.11:g.63674039T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001986948", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000108231", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_93758191_T_G", "cohortPhenotypes": ["Autosomal dominant epilepsy with auditory features"], "diseaseFromSource": "Autosomal dominant epilepsy with auditory features", "diseaseFromSourceId": "C1838062", "diseaseFromSourceMappedId": "MONDO_0010898", "variantHgvsId": "NC_000010.11:g.93758191T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002006942", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000132740", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_68939703_C_G", "cohortPhenotypes": ["Autosomal recessive distal spinal muscular atrophy 1", "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S", "CHARCOT-MARIE-TOOTH NEUROPATHY, 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RECESSIVE, TYPE 2S", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S", "Charcot-Marie-Tooth disease axonal type 2S", "HMN VI", "Neuronopathy, distal hereditary motor, type VI", "Neuronopathy, severe infantile axonal, with respiratory failure", "SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC", "Severe infantile axonal neuropathy with respiratory failure", "Spinal muscular atrophy with respiratory distress 1"], "diseaseFromSource": "Autosomal recessive distal spinal muscular atrophy 1", "diseaseFromSourceId": "C1858517", "diseaseFromSourceMappedId": "MONDO_0011436", "variantHgvsId": "NC_000011.10:g.68939703C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002010659", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000116127", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_73572934_A_G", "cohortPhenotypes": ["Alstrom syndrome", "Alstrom's syndrome"], "diseaseFromSource": "Alstrom syndrome", "diseaseFromSourceId": "C0268425", "diseaseFromSourceMappedId": "MONDO_0008763", "variantHgvsId": "NC_000002.12:g.73572934A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002011699", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000001630", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "7_92097231_A_T", "cohortPhenotypes": ["Long QT syndrome"], "diseaseFromSource": "Long QT syndrome", "diseaseFromSourceId": "C0023976", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000007.14:g.92097231A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002011699", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000127914", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_92097231_A_T", "cohortPhenotypes": ["Long QT syndrome"], "diseaseFromSource": "Long QT syndrome", "diseaseFromSourceId": "C0023976", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000007.14:g.92097231A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002014266", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001821", "variantId": "16_2071891_C_CCTACTCCCTGCT", "cohortPhenotypes": ["Tuberous sclerosis 2"], "diseaseFromSource": "Tuberous sclerosis 2", "diseaseFromSourceId": "C1860707", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2071894_2071905dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002016832", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000115295", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_29193462_G_C", "cohortPhenotypes": ["ALK-Related Neuroblastoma Susceptibility", "Neuroblastoma 3", "Neuroblastoma, susceptibility to, 3"], "diseaseFromSource": "Neuroblastoma, susceptibility to, 3", "diseaseFromSourceId": "C2751681", "diseaseFromSourceMappedId": "EFO_0000621", "variantHgvsId": "NC_000002.12:g.29193462G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002016832", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000171094", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_29193462_G_C", "cohortPhenotypes": ["ALK-Related Neuroblastoma Susceptibility", "Neuroblastoma 3", "Neuroblastoma, susceptibility to, 3"], "diseaseFromSource": "Neuroblastoma, susceptibility to, 3", "diseaseFromSourceId": "C2751681", "diseaseFromSourceMappedId": "EFO_0000621", "variantHgvsId": "NC_000002.12:g.29193462G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002016832", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000115295", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_29193462_G_C", "cohortPhenotypes": ["ALK-Related Neuroblastoma Susceptibility", "Neuroblastoma 3", "Neuroblastoma, susceptibility to, 3"], "diseaseFromSource": "Neuroblastoma, susceptibility to, 3", "diseaseFromSourceId": "C2751681", "diseaseFromSourceMappedId": "MONDO_0013083", "variantHgvsId": "NC_000002.12:g.29193462G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002016832", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000171094", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_29193462_G_C", "cohortPhenotypes": ["ALK-Related Neuroblastoma Susceptibility", "Neuroblastoma 3", "Neuroblastoma, susceptibility to, 3"], "diseaseFromSource": "Neuroblastoma, susceptibility to, 3", "diseaseFromSourceId": "C2751681", "diseaseFromSourceMappedId": "MONDO_0013083", "variantHgvsId": "NC_000002.12:g.29193462G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002021081", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000124587", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_42964862_C_T", "cohortPhenotypes": ["ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL", "INFANTILE PHYTANIC ACID STORAGE DISEASE", "PEROXISOME BIOGENESIS DISORDER (NALD/IRD)", "PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)", "Peroxisome biogenesis disorder", "Peroxisome biogenesis disorders, Zellweger syndrome spectrum"], "diseaseFromSource": "Peroxisome biogenesis disorder", "diseaseFromSourceId": "C1832200", "diseaseFromSourceMappedId": "Orphanet_79189", "variantHgvsId": "NC_000006.12:g.42964862C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002021484", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000124587", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "6_42978265_C_T", "cohortPhenotypes": ["ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL", "INFANTILE PHYTANIC ACID STORAGE DISEASE", "PEROXISOME BIOGENESIS DISORDER (NALD/IRD)", "PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)", "Peroxisome biogenesis disorder", "Peroxisome biogenesis disorders, Zellweger syndrome spectrum"], "diseaseFromSource": "Peroxisome biogenesis disorder", "diseaseFromSourceId": "C1832200", "diseaseFromSourceMappedId": "Orphanet_79189", "variantHgvsId": "NC_000006.12:g.42978265C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002022033", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000177084", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_132659463_T_A", "cohortPhenotypes": ["COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24", "Colorectal cancer, susceptibility to, 12"], "diseaseFromSource": "Colorectal cancer, susceptibility to, 12", "diseaseFromSourceId": "C3554460", "diseaseFromSourceMappedId": "MONDO_0016362", "variantHgvsId": "NC_000012.12:g.132659463T>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002026349", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_178601277_TG_T", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Dilated cardiomyopathy 1G", "diseaseFromSourceId": "C1858763", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000002.12:g.178601279del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002026349", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_178601277_TG_T", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "MONDO_0012127", "variantHgvsId": "NC_000002.12:g.178601279del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002026349", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_178601277_TG_T", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.178601279del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002032194", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152387283_G_A", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES", "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Autosomal recessive ataxia, Beauce type", "diseaseFromSourceId": "C1853116", "diseaseFromSourceMappedId": "MONDO_0012549", "variantHgvsId": "NC_000006.12:g.152387283G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002032194", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152387283_G_A", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES", "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Autosomal recessive ataxia, Beauce type", "diseaseFromSourceId": "C1853116", "diseaseFromSourceMappedId": "Orphanet_88644", "variantHgvsId": "NC_000006.12:g.152387283G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002032194", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152387283_G_A", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES", "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "diseaseFromSourceId": "C2751807", "diseaseFromSourceMappedId": "MONDO_0020336", "variantHgvsId": "NC_000006.12:g.152387283G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002032970", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000184634", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "X_71141227_T_TAGCAGCAGCAGCAACAGCAACAGCAGCAGC", "cohortPhenotypes": ["FG syndrome 1", "Keller syndrome", "MED12-Related Disorders", "Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum", "Opitz-Kaveggia syndrome"], "diseaseFromSource": "FG syndrome 1", "diseaseFromSourceId": "C0220769", "diseaseFromSourceMappedId": "EFO_0009297", "variantHgvsId": "NC_000023.11:g.71141232GCAGCAGCAACAGCAACAGCAGCAGCAGCA[3]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002033542", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000181192", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_12101135_A_C", "cohortPhenotypes": ["2-KETOADIPIC ACIDURIA", "2-aminoadipic 2-oxoadipic aciduria", "ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA", "Aminoadipic aciduria"], "diseaseFromSource": "2-aminoadipic 2-oxoadipic aciduria", "diseaseFromSourceId": "C1859817", "diseaseFromSourceMappedId": "MONDO_0008774", "variantHgvsId": "NC_000010.11:g.12101135A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002036119", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000104419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_133244386_G_A", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 4", "Charcot-Marie-Tooth, Type 4"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4", "diseaseFromSourceId": "C4082197", "diseaseFromSourceMappedId": "MONDO_0018995", "variantHgvsId": "NC_000008.11:g.133244386G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002036376", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000118194", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_201363312_C_A", "cohortPhenotypes": ["Cardiomyopathy, familial restrictive, 3", "Dilated cardiomyopathy 1D", "Familial hypertrophic cardiomyopathy 2", "Hypertrophic cardiomyopathy 2", "Left ventricular noncompaction 6", "TNNT2-Related Familial Hypertrophic Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy, familial restrictive, 3", "diseaseFromSourceId": "C2676271", "variantHgvsId": "NC_000001.11:g.201363312C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002036376", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000118194", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_201363312_C_A", "cohortPhenotypes": ["Cardiomyopathy, familial restrictive, 3", "Dilated cardiomyopathy 1D", "Familial hypertrophic cardiomyopathy 2", "Hypertrophic cardiomyopathy 2", "Left ventricular noncompaction 6", "TNNT2-Related Familial Hypertrophic Cardiomyopathy"], "diseaseFromSource": "Hypertrophic cardiomyopathy 2", "diseaseFromSourceId": "C1861864", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000001.11:g.201363312C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002036376", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000118194", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_201363312_C_A", "cohortPhenotypes": ["Cardiomyopathy, familial restrictive, 3", "Dilated cardiomyopathy 1D", "Familial hypertrophic cardiomyopathy 2", "Hypertrophic cardiomyopathy 2", "Left ventricular noncompaction 6", "TNNT2-Related Familial Hypertrophic Cardiomyopathy"], "diseaseFromSource": "Dilated cardiomyopathy 1D", "diseaseFromSourceId": "C1832243", "diseaseFromSourceMappedId": "Orphanet_54260", "variantHgvsId": "NC_000001.11:g.201363312C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002037311", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000146648", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_55174749_G_T", "cohortPhenotypes": ["EGFR-related lung cancer"], "diseaseFromSource": "EGFR-related lung cancer", "diseaseFromSourceId": "CN130014", "variantHgvsId": "NC_000007.14:g.55174749G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002038242", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000164751", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_76983931_A_G", "cohortPhenotypes": ["Peroxisome biogenesis disorder 5A (Zellweger)"], "diseaseFromSource": "Peroxisome biogenesis disorder 5A (Zellweger)", "diseaseFromSourceId": "C3553940", "diseaseFromSourceMappedId": "Orphanet_912", "variantHgvsId": "NC_000008.11:g.76983931A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002040305", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000185313", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_38722326_G_A", "cohortPhenotypes": ["Brugada syndrome", "Sudden Unexplained Death Syndrome", "Sudden Unexplained Nocturnal Death Syndrome (SUNDS)", "Sudden unexpected nocturnal death syndrome", "Sudden unexplained nocturnal death syndrome"], "diseaseFromSource": "Brugada syndrome", "diseaseFromSourceId": "C1142166", "diseaseFromSourceMappedId": "MONDO_0015263", "variantHgvsId": "NC_000003.12:g.38722326G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002044210", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000107290", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_132329754_G_A", "cohortPhenotypes": ["AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE", "Amyotrophic lateral sclerosis type 4", "Ataxia with Oculomotor Apraxia", "Ataxia-ocular apraxia-2", "Ataxia-oculomotor apraxia 2", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES", "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2"], "diseaseFromSource": "Amyotrophic lateral sclerosis type 4", "diseaseFromSourceId": "C1865409", "diseaseFromSourceMappedId": "MONDO_0004976", "variantHgvsId": "NC_000009.12:g.132329754G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002044210", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000107290", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_132329754_G_A", "cohortPhenotypes": ["AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE", "Amyotrophic lateral sclerosis type 4", "Ataxia with Oculomotor Apraxia", "Ataxia-ocular apraxia-2", "Ataxia-oculomotor apraxia 2", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES", "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2"], "diseaseFromSource": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2", "diseaseFromSourceId": "C1853761", "diseaseFromSourceMappedId": "Orphanet_94124", "variantHgvsId": "NC_000009.12:g.132329754G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002048325", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000159082", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "21_32650238_T_G", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 53", "Early-onset Parkinson disease 20", "Epileptic encephalopathy, early infantile, 53"], "diseaseFromSource": "Early-onset Parkinson disease 20", "diseaseFromSourceId": "C3809824", "variantHgvsId": "NC_000021.9:g.32650238T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002048325", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000159082", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "21_32650238_T_G", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 53", "Early-onset Parkinson disease 20", "Epileptic encephalopathy, early infantile, 53"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 53", "diseaseFromSourceId": "C4479313", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000021.9:g.32650238T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002049029", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000096696", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_7585421_A_T", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8", "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "Arrhythmogenic right ventricular cardiomyopathy, type 8", "Arrhythmogenic right ventricular dysplasia 8", "Carvajal syndrome", "Dilated cardiomyopathy with woolly hair and keratoderma", "Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy", "Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"], "diseaseFromSource": "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "diseaseFromSourceId": "C1854063", "diseaseFromSourceMappedId": "MONDO_0011581", "variantHgvsId": "NC_000006.12:g.7585421A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002049029", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000096696", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_7585421_A_T", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8", "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "Arrhythmogenic right ventricular cardiomyopathy, type 8", "Arrhythmogenic right ventricular dysplasia 8", "Carvajal syndrome", "Dilated cardiomyopathy with woolly hair and keratoderma", "Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy", "Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"], "diseaseFromSource": "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "diseaseFromSourceId": "C1854063", "diseaseFromSourceMappedId": "Orphanet_65282", "variantHgvsId": "NC_000006.12:g.7585421A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002049029", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000096696", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_7585421_A_T", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8", "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "Arrhythmogenic right ventricular cardiomyopathy, type 8", "Arrhythmogenic right ventricular dysplasia 8", "Carvajal syndrome", "Dilated cardiomyopathy with woolly hair and keratoderma", "Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy", "Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 8", "diseaseFromSourceId": "C1843896", "diseaseFromSourceMappedId": "Orphanet_247", "variantHgvsId": "NC_000006.12:g.7585421A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002049029", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000096696", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_7585421_A_T", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8", "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "Arrhythmogenic right ventricular cardiomyopathy, type 8", "Arrhythmogenic right ventricular dysplasia 8", "Carvajal syndrome", "Dilated cardiomyopathy with woolly hair and keratoderma", "Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy", "Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 8", "diseaseFromSourceId": "C1843896", "diseaseFromSourceMappedId": "MONDO_0011831", "variantHgvsId": "NC_000006.12:g.7585421A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002058917", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000101901", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_111728246_G_A", "variantRsId": "rs751478782", "cohortPhenotypes": ["ALG13-CDG", "CDG Is", "Congenital disorder of glycosylation, type Is", "Developmental and epileptic encephalopathy, 36", "Epileptic encephalopathy, early infantile, 36"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 36", "diseaseFromSourceId": "C3550904", "diseaseFromSourceMappedId": "MONDO_0010472", "variantHgvsId": "NC_000023.11:g.111728246G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002058917", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000101901", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_111728246_G_A", "variantRsId": "rs751478782", "cohortPhenotypes": ["ALG13-CDG", "CDG Is", "Congenital disorder of glycosylation, type Is", "Developmental and epileptic encephalopathy, 36", "Epileptic encephalopathy, early infantile, 36"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 36", "diseaseFromSourceId": "C3550904", "diseaseFromSourceMappedId": "Orphanet_324422", "variantHgvsId": "NC_000023.11:g.111728246G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002062508", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000133710", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "5_148104939_C_T", "variantRsId": "rs375240260", "cohortPhenotypes": ["COMEL-NETHERTON SYNDROME", "ERYTHRODERMA, ICHTHYOSIFORM, WITH HYPOTRICHOSIS AND HYPER-IgE", "Netherton disease", "Netherton syndrome"], "diseaseFromSource": "Netherton syndrome", "diseaseFromSourceId": "C0265962", "diseaseFromSourceMappedId": "MONDO_0009735", "variantHgvsId": "NC_000005.10:g.148104939C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002066311", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000105647", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_18168762_G_A", "variantRsId": "rs201568661", "cohortPhenotypes": ["MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT", "MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME", "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1"], "diseaseFromSource": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1", "diseaseFromSourceId": "C4012727", "diseaseFromSourceMappedId": "Orphanet_83473", "variantHgvsId": "NC_000019.10:g.18168762G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002068539", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000169057", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_154030711_A_G", "variantRsId": "rs782420258", "cohortPhenotypes": ["Encephalopathy, neonatal severe", "Encephalopathy, neonatal severe, due to MECP2 mutations", "Severe neonatal-onset encephalopathy with microcephaly"], "diseaseFromSource": "Severe neonatal-onset encephalopathy with microcephaly", "diseaseFromSourceId": "C1968556", "diseaseFromSourceMappedId": "MONDO_0010397", "variantHgvsId": "NC_000023.11:g.154030711A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002070310", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "14_23422330_T_TAG", "cohortPhenotypes": ["Hypertrophic cardiomyopathy"], "diseaseFromSource": "Hypertrophic cardiomyopathy", "diseaseFromSourceId": "C0007194", "diseaseFromSourceMappedId": "EFO_0000538", "variantHgvsId": "NC_000014.9:g.23422332GA[4]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002077695", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000188158", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_17376015_A_G", "cohortPhenotypes": ["Cataract X-linked with Hutchinsonian teeth", "Cataract dental syndrome", "Mesiodens cataract syndrome", "Nance-Horan syndrome"], "diseaseFromSource": "Nance-Horan syndrome", "diseaseFromSourceId": "C0796085", "diseaseFromSourceMappedId": "MONDO_0010545", "variantHgvsId": "NC_000023.11:g.17376015A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002083564", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_1602561_T_G", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "Orphanet_140969", "variantHgvsId": "NC_000016.10:g.1602561T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002083564", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_1602561_T_G", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "MONDO_0009964", "variantHgvsId": "NC_000016.10:g.1602561T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002088496", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000183230", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "10_66379136_T_G", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 13", "Arrhythmogenic right ventricular dysplasia 13", "Arrhythmogenic right ventricular dysplasia, familial, 13"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 13", "diseaseFromSourceId": "C3810138", "diseaseFromSourceMappedId": "Orphanet_217656", "variantHgvsId": "NC_000010.11:g.66379136T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002094328", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000148677", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "10_90918983_A_AATATATATATATATATAT", "cohortPhenotypes": ["ANKRD1-related dilated cardiomyopathy"], "diseaseFromSource": "ANKRD1-related dilated cardiomyopathy", "diseaseFromSourceId": "CN119551", "variantHgvsId": "NC_000010.11:g.90918985TA[10]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002098228", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000135766", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_231421372_G_A", "cohortPhenotypes": ["Erythrocytosis, familial, 3"], "diseaseFromSource": "Erythrocytosis, familial, 3", "diseaseFromSourceId": "C1853286", "diseaseFromSourceMappedId": "MONDO_0007572", "variantHgvsId": "NC_000001.11:g.231421372G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002102897", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000135424", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "12_55688181_TCC_T", "cohortPhenotypes": ["Congenital muscular dystrophy due to integrin alpha-7 deficiency", "Congenital muscular dystrophy with integrin alpha-7 deficiency", "MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY", "Muscular dystrophy, congenital, due to ITGA7 deficiency"], "diseaseFromSource": "Congenital muscular dystrophy due to integrin alpha-7 deficiency", "diseaseFromSourceId": "C2750786", "diseaseFromSourceMappedId": "MONDO_0013177", "variantHgvsId": "NC_000012.12:g.55688185_55688186del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002102897", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000135424", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "12_55688181_TCC_T", "cohortPhenotypes": ["Congenital muscular dystrophy due to integrin alpha-7 deficiency", "Congenital muscular dystrophy with integrin alpha-7 deficiency", "MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY", "Muscular dystrophy, congenital, due to ITGA7 deficiency"], "diseaseFromSource": "Congenital muscular dystrophy due to integrin alpha-7 deficiency", "diseaseFromSourceId": "C2750786", "diseaseFromSourceMappedId": "Orphanet_34520", "variantHgvsId": "NC_000012.12:g.55688185_55688186del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002103867", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000132763", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_45508289_G_A", "cohortPhenotypes": ["Cobalamin C disease", "Cobalamin-C methylmalonic acidemia and homocystinuria", "Methylmalonic acidemia and homocystinuria cblC type", "Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive", "Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase", "methylmalonic aciduria and homocystinuria type cblC"], "diseaseFromSource": "Cobalamin C disease", "diseaseFromSourceId": "C1848561", "diseaseFromSourceMappedId": "Orphanet_26", "variantHgvsId": "NC_000001.11:g.45508289G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002103867", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000132763", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_45508289_G_A", "cohortPhenotypes": ["Cobalamin C disease", "Cobalamin-C methylmalonic acidemia and homocystinuria", "Methylmalonic acidemia and homocystinuria cblC type", "Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive", "Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase", "methylmalonic aciduria and homocystinuria type cblC"], "diseaseFromSource": "Cobalamin C disease", "diseaseFromSourceId": "C1848561", "diseaseFromSourceMappedId": "Orphanet_79282", "variantHgvsId": "NC_000001.11:g.45508289G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002106665", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000018236", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "12_40910120_G_C", "cohortPhenotypes": ["Compton-North congenital myopathy"], "diseaseFromSource": "Compton-North congenital myopathy", "diseaseFromSourceId": "C2675527", "diseaseFromSourceMappedId": "MONDO_0012929", "variantHgvsId": "NC_000012.12:g.40910120G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002107226", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000081014", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_51001053_T_C", "cohortPhenotypes": ["Spastic paraplegia"], "diseaseFromSource": "Spastic paraplegia", "diseaseFromSourceId": "C0037772", "diseaseFromSourceMappedId": "HP_0001258", "variantHgvsId": "NC_000015.10:g.51001053T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002111971", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000142627", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_16135152_C_A", "cohortPhenotypes": ["CATARACT 6, CONGENITAL TOTAL", "CATARACT 6, POSTERIOR POLAR", "CATARACT, AGE-RELATED CORTICAL, 2", "Cataract 6 multiple types", "Cataract, posterior polar, 1"], "diseaseFromSource": "Cataract 6 multiple types", "diseaseFromSourceId": "C1861825", "variantHgvsId": "NC_000001.11:g.16135152C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002113550", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000103313", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_3254642_C_G", "cohortPhenotypes": ["Benign paroxysmal peritonitis", "Familial Mediterranean fever", "POLYSEROSITIS, FAMILIAL PAROXYSMAL", "POLYSEROSITIS, RECURRENT", "Periodic disease", "Periodic peritonitis"], "diseaseFromSource": "Familial Mediterranean fever", "diseaseFromSourceId": "C0031069", "diseaseFromSourceMappedId": "MONDO_0018088", "variantHgvsId": "NC_000016.10:g.3254642C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002121537", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000166813", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "15_89633008_T_TAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG", "cohortPhenotypes": ["Absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly", "Acrocallosal syndrome", "Acrocallosal syndrome, Schinzel type", "HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM", "Schinzel syndrome 1"], "diseaseFromSource": "Acrocallosal syndrome", "diseaseFromSourceId": "C0796147", "diseaseFromSourceMappedId": "MONDO_0008708", "variantHgvsId": "NC_000015.10:g.89633010GGGA[14]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002121537", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000166813", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "15_89633008_T_TAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG", "cohortPhenotypes": ["Absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly", "Acrocallosal syndrome", "Acrocallosal syndrome, Schinzel type", "HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM", "Schinzel syndrome 1"], "diseaseFromSource": "Acrocallosal syndrome", "diseaseFromSourceId": "C0796147", "diseaseFromSourceMappedId": "Orphanet_36", "variantHgvsId": "NC_000015.10:g.89633010GGGA[14]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002128203", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000168646", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_65558594_G_A", "cohortPhenotypes": ["Oligodontia-cancer predisposition syndrome", "Oligodontia-colorectal cancer syndrome", "TOOTH AGENESIS-COLORECTAL CANCER SYNDROME"], "diseaseFromSource": "Oligodontia-cancer predisposition syndrome", "diseaseFromSourceId": "C1837750", "diseaseFromSourceMappedId": "MONDO_0012075", "variantHgvsId": "NC_000017.11:g.65558594G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002128203", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000168646", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_65558594_G_A", "cohortPhenotypes": ["Oligodontia-cancer predisposition syndrome", "Oligodontia-colorectal cancer syndrome", "TOOTH AGENESIS-COLORECTAL CANCER SYNDROME"], "diseaseFromSource": "Oligodontia-cancer predisposition syndrome", "diseaseFromSourceId": "C1837750", "diseaseFromSourceMappedId": "Orphanet_300576", "variantHgvsId": "NC_000017.11:g.65558594G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002135703", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000054523", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_10271558_T_C", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 2", "Charcot-Marie-Tooth, Type 2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2", "diseaseFromSourceId": "C0270914", "diseaseFromSourceMappedId": "MONDO_0018993", "variantHgvsId": "NC_000001.11:g.10271558T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002146927", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000129250", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "17_5004838_G_C", "cohortPhenotypes": ["Ataxia, spastic, 2, autosomal recessive", "Spastic ataxia 2"], "diseaseFromSource": "Spastic ataxia 2", "diseaseFromSourceId": "C1969796", "diseaseFromSourceMappedId": "Orphanet_316240", "variantHgvsId": "NC_000017.11:g.5004838G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002150054", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000092929", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_75843455_TCTCTGCACCCCAGCA_T", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 3"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 3", "diseaseFromSourceId": "C1837174", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000017.11:g.75843461_75843475del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002154303", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000104320", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "8_89970444_A_G", "cohortPhenotypes": ["Ataxia telangiectasia variant V1", "Berlin Breakage syndrome", "IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY", "Immunodeficiency, microcephaly with normal intelligence", "Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies", "Microcephaly, normal intelligence and immunodeficiency", "Nijmegen breakage syndrome", "Nonsyndromal microcephaly autosomal recessive with normal intelligence", "SEEMANOVA SYNDROME II", "Seemanova syndrome 2"], "diseaseFromSource": "Microcephaly, normal intelligence and immunodeficiency", "diseaseFromSourceId": "C0398791", "diseaseFromSourceMappedId": "MONDO_0009623", "variantHgvsId": "NC_000008.11:g.89970444A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002156689", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000135454", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_57630206_G_A", "cohortPhenotypes": ["Spastic paraplegia"], "diseaseFromSource": "Spastic paraplegia", "diseaseFromSourceId": "C0037772", "diseaseFromSourceMappedId": "HP_0001258", "variantHgvsId": "NC_000012.12:g.57630206G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002156770", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000169057", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154030523_C_T", "cohortPhenotypes": ["Encephalopathy, neonatal severe", "Encephalopathy, neonatal severe, due to MECP2 mutations", "Severe neonatal-onset encephalopathy with microcephaly"], "diseaseFromSource": "Severe neonatal-onset encephalopathy with microcephaly", "diseaseFromSourceId": "C1968556", "diseaseFromSourceMappedId": "MONDO_0010397", "variantHgvsId": "NC_000023.11:g.154030523C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002163901", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000143951", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_63174851_ATG_A", "cohortPhenotypes": ["Bardet-Biedl syndrome"], "diseaseFromSource": "Bardet-Biedl syndrome", "diseaseFromSourceId": "C0752166", "diseaseFromSourceMappedId": "MONDO_0015229", "variantHgvsId": "NC_000002.12:g.63174852TG[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002165113", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000183091", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_151492377_C_T", "cohortPhenotypes": ["Nemaline myopathy 2", "Nemaline myopathy 2, autosomal recessive", "Nemaline myopathy caused by mutation in the nebulin gene"], "diseaseFromSource": "Nemaline myopathy 2", "diseaseFromSourceId": "C1850569", "diseaseFromSourceMappedId": "MONDO_0018958", "variantHgvsId": "NC_000002.12:g.151492377C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002165113", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000183091", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_151492377_C_T", "cohortPhenotypes": ["Nemaline myopathy 2", "Nemaline myopathy 2, autosomal recessive", "Nemaline myopathy caused by mutation in the nebulin gene"], "diseaseFromSource": "Nemaline myopathy 2", "diseaseFromSourceId": "C1850569", "diseaseFromSourceMappedId": "Orphanet_607", "variantHgvsId": "NC_000002.12:g.151492377C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002170920", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000108384", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_58692804_G_A", "cohortPhenotypes": ["Fanconi anemia complementation group O"], "diseaseFromSource": "Fanconi anemia complementation group O", "diseaseFromSourceId": "C3150653", "variantHgvsId": "NC_000017.11:g.58692804G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002172121", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "8_99391670_T_C", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", "diseaseFromSourceId": "C0265223", "diseaseFromSourceMappedId": "MONDO_0008999", "variantHgvsId": "NC_000008.11:g.99391670T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002174084", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000101986", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_153725899_C_G", "cohortPhenotypes": ["ADDISON DISEASE AND CEREBRAL SCLEROSIS", "Adrenoleukodystrophy", "BRONZE SCHILDER DISEASE", "MELANODERMIC LEUKODYSTROPHY", "SIEMERLING-CREUTZFELDT DISEASE"], "diseaseFromSource": "Adrenoleukodystrophy", "diseaseFromSourceId": "C0162309", "diseaseFromSourceMappedId": "Orphanet_43", "variantHgvsId": "NC_000023.11:g.153725899C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002178619", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000182621", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "20_8371462_A_G", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 12", "Early infantile epileptic encephalopathy 12"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 12", "diseaseFromSourceId": "C3150988", "diseaseFromSourceMappedId": "MONDO_0013389", "variantHgvsId": "NC_000020.11:g.8371462A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002178619", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000182621", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "20_8371462_A_G", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 12", "Early infantile epileptic encephalopathy 12"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 12", "diseaseFromSourceId": "C3150988", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000020.11:g.8371462A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002198643", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000169379", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "3_94036766_AA_CC", "cohortPhenotypes": ["Joubert syndrome 8"], "diseaseFromSource": "Joubert syndrome 8", "diseaseFromSourceId": "C2676771", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000003.12:g.94036766_94036767delinsCC"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002200041", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "5_112827094_C_A", "cohortPhenotypes": ["APC-Associated Polyposis Conditions", "FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED", "Familial adenomatous polyposis 1", "POLYPOSIS, ADENOMATOUS INTESTINAL"], "diseaseFromSource": "Familial adenomatous polyposis 1", "diseaseFromSourceId": "C2713442", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112827094C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002200692", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000134330", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_9490537_AATTG_A", "cohortPhenotypes": ["Inflammatory skin and bowel disease, neonatal, 1"], "diseaseFromSource": "Inflammatory skin and bowel disease, neonatal, 1", "diseaseFromSourceId": "C3280501", "variantHgvsId": "NC_000002.12:g.9490540TGAT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002200692", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000151694", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_9490537_AATTG_A", "cohortPhenotypes": ["Inflammatory skin and bowel disease, neonatal, 1"], "diseaseFromSource": "Inflammatory skin and bowel disease, neonatal, 1", "diseaseFromSourceId": "C3280501", "variantHgvsId": "NC_000002.12:g.9490540TGAT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002200904", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000141485", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "17_6693178_A_AACACACACACAC", "cohortPhenotypes": ["Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta", "Developmental and epileptic encephalopathy, 25", "Epileptic encephalopathy, early infantile, 25", "Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 25", "diseaseFromSourceId": "C4014621", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000017.11:g.6693179AC[32]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002200904", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000141485", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "17_6693178_A_AACACACACACAC", "cohortPhenotypes": ["Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta", "Developmental and epileptic encephalopathy, 25", "Epileptic encephalopathy, early infantile, 25", "Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 25", "diseaseFromSourceId": "C4014621", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000017.11:g.6693179AC[32]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002202986", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000117020", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_243573016_G_A", "cohortPhenotypes": ["MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, SOMATIC", "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2"], "diseaseFromSource": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2", "diseaseFromSourceId": "C4014738", "diseaseFromSourceMappedId": "Orphanet_83473", "variantHgvsId": "NC_000001.11:g.243573016G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002205056", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000168542", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "2_188992883_T_G", "cohortPhenotypes": ["Ehlers Danlos syndrome, Sack-Barabas type", "Ehlers Danlos syndrome, arterial type", "Ehlers Danlos syndrome, ecchymotic type", "Ehlers-Danlos Syndrome Type IV", "Ehlers-Danlos syndrome vascular type", "Ehlers-Danlos syndrome, type 4"], "diseaseFromSource": "Ehlers-Danlos syndrome, type 4", "diseaseFromSourceId": "C0268338", "diseaseFromSourceMappedId": "MONDO_0017314", "variantHgvsId": "NC_000002.12:g.188992883T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002210914", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000143382", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "1_150554470_G_A", "cohortPhenotypes": ["ECTOPIA LENTIS WITH ECTOPIA OF PUPIL", "Ectopia lentis 2, isolated, autosomal recessive", "Ectopia lentis et pupillae", "Ectopia lentis, isolated autosomal recessive"], "diseaseFromSource": "Ectopia lentis 2, isolated, autosomal recessive", "diseaseFromSourceId": "C3541474", "diseaseFromSourceMappedId": "MONDO_0015998", "variantHgvsId": "NC_000001.11:g.150554470G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002210914", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000143382", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "1_150554470_G_A", "cohortPhenotypes": ["ECTOPIA LENTIS WITH ECTOPIA OF PUPIL", "Ectopia lentis 2, isolated, autosomal recessive", "Ectopia lentis et pupillae", "Ectopia lentis, isolated autosomal recessive"], "diseaseFromSource": "Ectopia lentis 2, isolated, autosomal recessive", "diseaseFromSourceId": "C3541474", "diseaseFromSourceMappedId": "Orphanet_1885", "variantHgvsId": "NC_000001.11:g.150554470G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002219838", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000111262", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_4911867_G_A", "cohortPhenotypes": ["ATAXIA, EPISODIC, WITH MYOKYMIA", "Episodic ataxia type 1", "MYOKYMIA WITH PERIODIC ATAXIA", "PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY"], "diseaseFromSource": "Episodic ataxia type 1", "diseaseFromSourceId": "C1719788", "diseaseFromSourceMappedId": "MONDO_0008047", "variantHgvsId": "NC_000012.12:g.4911867G>A"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000990957", "releaseDate": "2020-01-11", "targetFromSourceId": "ENSG00000102081", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_147928745_A_C", "variantRsId": "rs201580891", "cohortPhenotypes": ["FRAGILE X MENTAL RETARDATION SYNDROME", "Fra(X) syndrome", "Fragile X syndrome", "Fragile X syndrome, type A", "MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28", "Marker X syndrome", "Martin-Bell syndrome", "X-linked mental retardation and macroorchidism"], "diseaseFromSource": "Fragile X syndrome", "diseaseFromSourceId": "C0016667", "diseaseFromSourceMappedId": "MONDO_0010383", "variantHgvsId": "NC_000023.11:g.147928745A>C"} -{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999660", "releaseDate": "2020-02-09", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[47]"} -{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999660", "releaseDate": "2020-02-09", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[47]"} -{"alleleOrigins": ["inherited", "maternal", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999677", "releaseDate": "2020-02-09", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[49]"} -{"alleleOrigins": ["inherited", "maternal", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999677", "releaseDate": "2020-02-09", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[49]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001002696", "releaseDate": "2020-02-15", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "8_99661492_G_C", "variantRsId": "rs750003804", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", "diseaseFromSourceId": "C0265223", "diseaseFromSourceMappedId": "MONDO_0008999", "variantHgvsId": "NC_000008.11:g.99661492G>C"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003635", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000075043", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63439680_T_A", "variantRsId": "rs1600755440", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000020.11:g.63439680T>A"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Congenital cerebellar hypoplasia", "diseaseFromSourceId": "C5231391", "diseaseFromSourceMappedId": "HP_0001321", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Dystonic disorder", "diseaseFromSourceId": "C0013421", "diseaseFromSourceMappedId": "HP_0001332", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Dystonic disorder", "diseaseFromSourceId": "C0013421", "diseaseFromSourceMappedId": "MONDO_0003441", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Global developmental delay", "diseaseFromSourceId": "C0557874", "diseaseFromSourceMappedId": "HP_0001263", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Visual impairment", "diseaseFromSourceId": "C3665347", "diseaseFromSourceMappedId": "HP_0000505", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Generalized hypotonia", "diseaseFromSourceId": "C1858120", "diseaseFromSourceMappedId": "HP_0001290", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001004239", "releaseDate": "2020-03-01", "targetFromSourceId": "ENSG00000001626", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "7_117536629_C_G", "variantRsId": "rs193922532", "cohortPhenotypes": ["Congenital bilateral aplasia of vas deferens from CFTR mutation", "Cystic fibrosis", "Mucoviscidosis"], "diseaseFromSource": "Cystic fibrosis", "diseaseFromSourceId": "C0010674", "diseaseFromSourceMappedId": "MONDO_0009061", "variantHgvsId": "NC_000007.14:g.117536629C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001004239", "releaseDate": "2020-03-01", "targetFromSourceId": "ENSG00000001626", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "7_117536629_C_G", "variantRsId": "rs193922532", "cohortPhenotypes": ["Congenital bilateral aplasia of vas deferens from CFTR mutation", "Cystic fibrosis", "Mucoviscidosis"], "diseaseFromSource": "Congenital bilateral aplasia of vas deferens from CFTR mutation", "diseaseFromSourceId": "C0403814", "diseaseFromSourceMappedId": "MONDO_0010178", "variantHgvsId": "NC_000007.14:g.117536629C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001010883", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000119514", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_98840095_C_T", "variantRsId": "rs1297882734", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000009.12:g.98840095C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001011480", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000185920", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_95477637_C_T", "variantRsId": "rs1588600742", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000009.12:g.95477637C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001020798", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000135446", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_57751081_G_C", "variantRsId": "rs587778185", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000012.12:g.57751081G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001026095", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000177084", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_132677582_TG_T", "variantRsId": "rs1593081630", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000012.12:g.132677584del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001027600", "releaseDate": "2020-03-26", "targetFromSourceId": "ENSG00000109320", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "4_102537884_TG_T", "variantRsId": "rs1578735747", "cohortPhenotypes": ["Inherited Immunodeficiency Diseases"], "diseaseFromSource": "Inherited Immunodeficiency Diseases", "diseaseFromSourceId": "C5197805", "variantHgvsId": "NC_000004.12:g.102537885del"} -{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001030909", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000121067", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "17_49619264_T_TC", "variantRsId": "rs2072163565", "cohortPhenotypes": ["Malignant tumor of prostate", "Prostate cancer"], "diseaseFromSource": "Malignant tumor of prostate", "diseaseFromSourceId": "C0376358", "diseaseFromSourceMappedId": "EFO_0001663", "variantHgvsId": "NC_000017.11:g.49619265dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000875932", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000197121", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_196865000_A_G", "variantRsId": "rs374678391", "cohortPhenotypes": ["GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 9", "Intellectual disability, autosomal recessive 42", "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES"], "diseaseFromSource": "Intellectual disability, autosomal recessive 42", "diseaseFromSourceId": "C4014343", "variantHgvsId": "NC_000002.12:g.196865000A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001050474", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000168646", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_65538242_G_C", "variantRsId": "rs1598100863", "cohortPhenotypes": ["Oligodontia-cancer predisposition syndrome", "Oligodontia-colorectal cancer syndrome", "TOOTH AGENESIS-COLORECTAL CANCER SYNDROME"], "diseaseFromSource": "Oligodontia-cancer predisposition syndrome", "diseaseFromSourceId": "C1837750", "diseaseFromSourceMappedId": "MONDO_0012075", "variantHgvsId": "NC_000017.11:g.65538242G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001050474", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000168646", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_65538242_G_C", "variantRsId": "rs1598100863", "cohortPhenotypes": ["Oligodontia-cancer predisposition syndrome", "Oligodontia-colorectal cancer syndrome", "TOOTH AGENESIS-COLORECTAL CANCER SYNDROME"], "diseaseFromSource": "Oligodontia-cancer predisposition syndrome", "diseaseFromSourceId": "C1837750", "diseaseFromSourceMappedId": "Orphanet_300576", "variantHgvsId": "NC_000017.11:g.65538242G>C"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001051882", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000130711", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "9_130681605_T_TCGCCGCCGCCGCCGCCGC", "variantRsId": "rs752427775", "cohortPhenotypes": ["Congenital insensitivity to pain-hypohidrosis syndrome", "HSAN VIII", "Neuropathy, hereditary sensory and autonomic, type VIII"], "diseaseFromSource": "Congenital insensitivity to pain-hypohidrosis syndrome", "diseaseFromSourceId": "C4225308", "diseaseFromSourceMappedId": "MONDO_0014662", "variantHgvsId": "NC_000009.12:g.130681606_130681608CGC[18]"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001051882", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000130711", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "9_130681605_T_TCGCCGCCGCCGCCGCCGC", "variantRsId": "rs752427775", "cohortPhenotypes": ["Congenital insensitivity to pain-hypohidrosis syndrome", "HSAN VIII", "Neuropathy, hereditary sensory and autonomic, type VIII"], "diseaseFromSource": "Congenital insensitivity to pain-hypohidrosis syndrome", "diseaseFromSourceId": "C4225308", "diseaseFromSourceMappedId": "Orphanet_140477", "variantHgvsId": "NC_000009.12:g.130681606_130681608CGC[18]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001055216", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_108251072_G_T", "variantRsId": "rs769788188", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108251072G>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001060849", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000277586", "variantFunctionalConsequenceId": "SO_0001821", "variantId": "8_24952904_T_TCACCTC", "variantRsId": "rs777344234", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2E", "CMT 2E", "Charcot-Marie-Tooth disease type 2E", "Charcot-Marie-Tooth disease, axonal, Type 2E"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2E", "diseaseFromSourceId": "C1843225", "diseaseFromSourceMappedId": "MONDO_0015626", "variantHgvsId": "NC_000008.11:g.24952906_24952911dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001069843", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000047457", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_149188097_C_T", "variantRsId": "rs1158598597", "cohortPhenotypes": ["Aceruloplasminemia", "Ceruloplasmin deficiency", "Deficiency of ceruloplasmin", "Deficiency of ferroxidase", "Familial apoceruloplasmin deficiency", "Hereditary ceruloplasmin deficiency"], "diseaseFromSource": "Deficiency of ferroxidase", "diseaseFromSourceId": "C0878682", "diseaseFromSourceMappedId": "MONDO_0011426", "variantHgvsId": "NC_000003.12:g.149188097C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001070333", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000145362", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_113357180_G_T", "variantRsId": "rs2095842493", "cohortPhenotypes": ["Long QT syndrome"], "diseaseFromSource": "Long QT syndrome", "diseaseFromSourceId": "C0023976", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000004.12:g.113357180G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["27599773", "31705726"], "studyId": "RCV001090034", "releaseDate": "2020-05-04", "targetFromSourceId": "ENSG00000147408", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Skeletal dysplasia, mild, with joint laxity and advanced bone age"], "diseaseFromSource": "Skeletal dysplasia, mild, with joint laxity and advanced bone age", "diseaseFromSourceId": "C5394341", "diseaseFromSourceMappedId": "MONDO_0030029", "variantHgvsId": "NC_000008.11:g.19411890_19467180del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001102435", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000162688", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "1_99923371_A_C", "variantRsId": "rs111689090", "cohortPhenotypes": ["Amylo-1,6-glucosidase deficiency", "Cori disease", "Forbes disease", "Glycogen debrancher deficiency", "Glycogen storage disease type 3", "Glycogen storage disease type III", "Limit dextrinosis"], "diseaseFromSource": "Glycogen storage disease type III", "diseaseFromSourceId": "C0017922", "diseaseFromSourceMappedId": "MONDO_0009291", "variantHgvsId": "NC_000001.11:g.99923371A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001148014", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000168827", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_158645740_C_A", "variantRsId": "rs62286651", "cohortPhenotypes": ["Combined oxidative phosphorylation deficiency 1", "HEPATOENCEPHALOPATHY, EARLY FATAL PROGRESSIVE", "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"], "diseaseFromSource": "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1", "diseaseFromSourceId": "C1836797", "diseaseFromSourceMappedId": "Orphanet_137681", "variantHgvsId": "NC_000003.12:g.158645740C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001165489", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000197969", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "9_77219947_T_C", "variantRsId": "rs377234046", "cohortPhenotypes": ["Acanthocytosis with neurologic disorder", "Chorea-acanthocytosis", "Choreaacanthocytosis", "Choreoacanthocytosis", "Levine-Critchley syndrome"], "diseaseFromSource": "Chorea-acanthocytosis", "diseaseFromSourceId": "C0393576", "diseaseFromSourceMappedId": "MONDO_0008695", "variantHgvsId": "NC_000009.12:g.77219947T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001165489", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000197969", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "9_77219947_T_C", "variantRsId": "rs377234046", "cohortPhenotypes": ["Acanthocytosis with neurologic disorder", "Chorea-acanthocytosis", "Choreaacanthocytosis", "Choreoacanthocytosis", "Levine-Critchley syndrome"], "diseaseFromSource": "Chorea-acanthocytosis", "diseaseFromSourceId": "C0393576", "diseaseFromSourceMappedId": "Orphanet_2388", "variantHgvsId": "NC_000009.12:g.77219947T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202070", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000196998", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_49075418_T_G", "variantRsId": "rs2065031040", "cohortPhenotypes": ["Beta-propeller protein-associated neurodegeneration", "Neurodegeneration with brain iron accumulation 5", "STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD"], "diseaseFromSource": "Neurodegeneration with brain iron accumulation 5", "diseaseFromSourceId": "C3550973", "diseaseFromSourceMappedId": "MONDO_0010476", "variantHgvsId": "NC_000023.11:g.49075418T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001203411", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000129757", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_2884842_C_T", "variantRsId": "rs1848929968", "cohortPhenotypes": ["Beckwith-Wiedemann syndrome", "EMG Syndrome", "Exomphalos macroglossia gigantism syndrome"], "diseaseFromSource": "Beckwith-Wiedemann syndrome", "diseaseFromSourceId": "C0004903", "diseaseFromSourceMappedId": "MONDO_0007534", "variantHgvsId": "NC_000011.10:g.2884842C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001204459", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000197943", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_81908423_C_T", "variantRsId": "rs72824905", "cohortPhenotypes": ["ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED", "FAMILIAL ATYPICAL COLD URTICARIA", "Familial cold autoinflammatory syndrome 3"], "diseaseFromSource": "Familial cold autoinflammatory syndrome 3", "diseaseFromSourceId": "C3280914", "diseaseFromSourceMappedId": "Orphanet_247868", "variantHgvsId": "NC_000016.10:g.81908423C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001208658", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000169710", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_82087051_C_T", "variantRsId": "rs761637918", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000017.11:g.82087051C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232017", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_2087931_G_T", "variantRsId": "rs200700923", "cohortPhenotypes": ["Tuberous sclerosis 2"], "diseaseFromSource": "Tuberous sclerosis 2", "diseaseFromSourceId": "C1860707", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2087931G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001242233", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000005339", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_3757313_C_T", "variantRsId": "rs2052609627", "cohortPhenotypes": ["Broad thumb-hallux syndrome", "Rubinstein-Taybi syndrome"], "diseaseFromSource": "Rubinstein-Taybi syndrome", "diseaseFromSourceId": "C0035934", "diseaseFromSourceMappedId": "MONDO_0019188", "variantHgvsId": "NC_000016.10:g.3757313C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001300402", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000104450", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_100213182_A_C", "variantRsId": "rs1246342969", "cohortPhenotypes": ["CILIARY DYSKINESIA, PRIMARY, 28, WITH OR WITHOUT SITUS INVERSUS", "Primary ciliary dyskinesia 28"], "diseaseFromSource": "Primary ciliary dyskinesia 28", "diseaseFromSourceId": "C3809706", "variantHgvsId": "NC_000008.11:g.100213182A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001300925", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000253729", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_47837340_A_C", "variantRsId": "rs2088049317", "cohortPhenotypes": ["IMMUNODEFICIENCY 26 WITH NEUROLOGIC ABNORMALITIES", "Immunodeficiency 26 with or without neurologic abnormalities", "Severe combined immunodeficiency due to DNA-PKcs deficiency"], "diseaseFromSource": "Severe combined immunodeficiency due to DNA-PKcs deficiency", "diseaseFromSourceId": "C4014833", "diseaseFromSourceMappedId": "Orphanet_317425", "variantHgvsId": "NC_000008.11:g.47837340A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001300925", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000253729", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_47837340_A_C", "variantRsId": "rs2088049317", "cohortPhenotypes": ["IMMUNODEFICIENCY 26 WITH NEUROLOGIC ABNORMALITIES", "Immunodeficiency 26 with or without neurologic abnormalities", "Severe combined immunodeficiency due to DNA-PKcs deficiency"], "diseaseFromSource": "Severe combined immunodeficiency due to DNA-PKcs deficiency", "diseaseFromSourceId": "C4014833", "diseaseFromSourceMappedId": "MONDO_0014423", "variantHgvsId": "NC_000008.11:g.47837340A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001316006", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000177663", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_17108508_G_C", "variantRsId": "rs192300437", "cohortPhenotypes": ["CANDIDIASIS, FAMILIAL, 5", "Immunodeficiency 51"], "diseaseFromSource": "Immunodeficiency 51", "diseaseFromSourceId": "C4310803", "diseaseFromSourceMappedId": "MONDO_0013500", "variantHgvsId": "NC_000022.11:g.17108508G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001318909", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000081189", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_88761241_T_C", "variantRsId": "rs1777713411", "cohortPhenotypes": ["Intellectual disability, autosomal dominant 20", "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE"], "diseaseFromSource": "Intellectual disability, autosomal dominant 20", "diseaseFromSourceId": "C3150700", "variantHgvsId": "NC_000005.10:g.88761241T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001321429", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000176165", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_28767506_C_T", "variantRsId": "rs1381438340", "cohortPhenotypes": ["Rett syndrome, congenital variant"], "diseaseFromSource": "Rett syndrome, congenital variant", "diseaseFromSourceId": "C3150705", "diseaseFromSourceMappedId": "MONDO_0010726", "variantHgvsId": "NC_000014.9:g.28767506C>T"} +{"alleleOrigins": ["germline", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001336651", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000165970", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_20652404_T_C", "variantRsId": "rs142855098", "cohortPhenotypes": ["HYPEREKPLEXIA 3, AUTOSOMAL DOMINANT", "HYPEREKPLEXIA 3, AUTOSOMAL RECESSIVE", "Hyperekplexia 3"], "diseaseFromSource": "Hyperekplexia 3", "diseaseFromSourceId": "C3553288", "diseaseFromSourceMappedId": "MONDO_0021022", "variantHgvsId": "NC_000011.10:g.20652404T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001345082", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000101204", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63350627_C_T", "variantRsId": "rs150082508", "cohortPhenotypes": ["Autosomal dominant nocturnal frontal lobe epilepsy"], "diseaseFromSource": "Autosomal dominant nocturnal frontal lobe epilepsy", "diseaseFromSourceId": "C3696898", "diseaseFromSourceMappedId": "MONDO_0020300", "variantHgvsId": "NC_000020.11:g.63350627C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000348088", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000106799", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_99153772_C_A", "variantRsId": "rs886063257", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "EFO_0009299", "variantHgvsId": "NC_000009.12:g.99153772C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000348088", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000106799", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_99153772_C_A", "variantRsId": "rs886063257", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "Orphanet_285014", "variantHgvsId": "NC_000009.12:g.99153772C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000352847", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000174697", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_128255185_G_C", "variantRsId": "rs886061975", "cohortPhenotypes": ["Leptin deficiency or dysfunction", "Obesity due to congenital leptin deficiency"], "diseaseFromSource": "Obesity due to congenital leptin deficiency", "diseaseFromSourceId": "C3554224", "diseaseFromSourceMappedId": "Orphanet_66628", "variantHgvsId": "NC_000007.14:g.128255185G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000352847", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000174697", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_128255185_G_C", "variantRsId": "rs886061975", "cohortPhenotypes": ["Leptin deficiency or dysfunction", "Obesity due to congenital leptin deficiency"], "diseaseFromSource": "Obesity due to congenital leptin deficiency", "diseaseFromSourceId": "C3554224", "diseaseFromSourceMappedId": "MONDO_0013991", "variantHgvsId": "NC_000007.14:g.128255185G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000353472", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000196236", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "22_40927070_C_T", "variantRsId": "rs886057511", "cohortPhenotypes": ["Nephronophthisis-like nephropathy 1"], "diseaseFromSource": "Nephronophthisis-like nephropathy 1", "diseaseFromSourceId": "C3150419", "diseaseFromSourceMappedId": "MONDO_0019005", "variantHgvsId": "NC_000022.11:g.40927070C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000361861", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000159921", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "9_36216327_A_ATGTGTGTGTGTGTGTGTG", "variantRsId": "rs10527967", "cohortPhenotypes": ["Inclusion Body Myopathy, Recessive"], "diseaseFromSource": "Inclusion Body Myopathy, Recessive", "diseaseFromSourceId": "CN239230", "diseaseFromSourceMappedId": "Orphanet_602", "variantHgvsId": "NC_000009.12:g.36216329GT[22]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000378131", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000165102", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_43200603_G_A", "variantRsId": "rs886062957", "cohortPhenotypes": ["Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency", "MPS 3C", "MPS III C", "MUCOPOLYSACCHARIDOSIS, TYPE IIIC", "Mucopoly-saccharidosis type 3C", "Mucopolysaccharidosis type IIIC (Sanfilippo C)", "Mucopolysaccharidosis, MPS-III-C", "Sanfilippo syndrome C"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-III-C", "diseaseFromSourceId": "C0086649", "diseaseFromSourceMappedId": "MONDO_0009657", "variantHgvsId": "NC_000008.11:g.43200603G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000385692", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000124370", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71124216_A_T", "variantRsId": "rs886056277", "cohortPhenotypes": ["METHYLMALONIC ACIDURIA III", "METHYLMALONYL-CoA RACEMASE DEFICIENCY", "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "Methylmalonyl-CoA epimerase deficiency"], "diseaseFromSource": "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "diseaseFromSourceId": "C1855100", "diseaseFromSourceMappedId": "MONDO_0009615", "variantHgvsId": "NC_000002.12:g.71124216A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000385692", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000124370", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71124216_A_T", "variantRsId": "rs886056277", "cohortPhenotypes": ["METHYLMALONIC ACIDURIA III", "METHYLMALONYL-CoA RACEMASE DEFICIENCY", "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "Methylmalonyl-CoA epimerase deficiency"], "diseaseFromSource": "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "diseaseFromSourceId": "C1855100", "diseaseFromSourceMappedId": "Orphanet_308425", "variantHgvsId": "NC_000002.12:g.71124216A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000387283", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000073282", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_189894797_T_A", "variantRsId": "rs886058226", "cohortPhenotypes": ["TP63-Related Spectrum Disorders"], "diseaseFromSource": "TP63-Related Spectrum Disorders", "diseaseFromSourceId": "CN239305", "variantHgvsId": "NC_000003.12:g.189894797T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000405770", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000091622", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_6453135_C_T", "variantRsId": "rs28593105", "cohortPhenotypes": ["Cone-rod dystrophy 5"], "diseaseFromSource": "Cone-rod dystrophy 5", "diseaseFromSourceId": "C1832976", "diseaseFromSourceMappedId": "Orphanet_1872", "variantHgvsId": "NC_000017.11:g.6453135C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000678421", "releaseDate": "2018-09-08", "targetFromSourceId": "ENSG00000171954", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "19_15537989_C_T", "variantRsId": "rs199892192", "cohortPhenotypes": ["Autosomal recessive congenital ichthyosis 5", "Ichthyosis congenita III", "Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive", "Lamellar ichthyosis, type 3"], "diseaseFromSource": "Autosomal recessive congenital ichthyosis 5", "diseaseFromSourceId": "C1858133", "diseaseFromSourceMappedId": "MONDO_0017265", "variantHgvsId": "NC_000019.10:g.15537989C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001103379", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000109927", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_121118604_G_T", "variantRsId": "rs145913741", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 12", "DEAFNESS, AUTOSOMAL DOMINANT 8", "Deafness, autosomal dominant 12"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 12", "diseaseFromSourceId": "C1832187", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000011.10:g.121118604G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001110445", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000133812", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_9845672_C_T", "variantRsId": "rs1856494115", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B2", "CMT 4B2", "Charcot-Marie-Tooth Neuropathy Type 4B2", "Charcot-Marie-Tooth disease type 4B2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4B2", "diseaseFromSourceId": "C1858278", "diseaseFromSourceMappedId": "MONDO_0011475", "variantHgvsId": "NC_000011.10:g.9845672C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001111544", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000133104", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_36304571_C_T", "variantRsId": "rs150163770", "cohortPhenotypes": ["Autosomal recessive spastic paraplegia type 20", "Spastic paraparesis childhood-onset with distal muscle wasting", "Spastic paraplegia 20", "Spastic paraplegia autosomal recessive Troyer type", "Troyer syndrome"], "diseaseFromSource": "Troyer syndrome", "diseaseFromSourceId": "C0393559", "diseaseFromSourceMappedId": "MONDO_0010156", "variantHgvsId": "NC_000013.11:g.36304571C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001116144", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000141012", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_88826736_G_A", "variantRsId": "rs368784505", "cohortPhenotypes": ["Galactosamine-6-sulfatase deficiency", "MPS 4A", "MPS IVA", "Morquio A disease", "Morquio syndrome A", "Morquio syndrome A, mild", "Mucopolysaccharidosis Type IVA", "Mucopolysaccharidosis type IV A", "Mucopolysaccharidosis, MPS-IV-A"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-IV-A", "diseaseFromSourceId": "C0086651", "diseaseFromSourceMappedId": "MONDO_0009659", "variantHgvsId": "NC_000016.10:g.88826736G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001116620", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140374", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_76283762_G_C", "variantRsId": "rs202121622", "cohortPhenotypes": ["Ethylmalonic-adipicaciduria", "GA 2", "GA II", "Glutaric acidemia type 2", "Glutaric acidemia type II", "Glutaric aciduria, type 2", "Multiple acyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Multiple acyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C0268596", "diseaseFromSourceMappedId": "HP_0003150", "variantHgvsId": "NC_000015.10:g.76283762G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001116620", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140374", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_76283762_G_C", "variantRsId": "rs202121622", "cohortPhenotypes": ["Ethylmalonic-adipicaciduria", "GA 2", "GA II", "Glutaric acidemia type 2", "Glutaric acidemia type II", "Glutaric aciduria, type 2", "Multiple acyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Multiple acyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C0268596", "diseaseFromSourceMappedId": "MONDO_0009282", "variantHgvsId": "NC_000015.10:g.76283762G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001119700", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140326", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_42735170_C_T", "variantRsId": "rs185031946", "cohortPhenotypes": ["Congenital dyserythropoietic anemia, type I", "Dyserythropoietic anemia, congenital type 1"], "diseaseFromSource": "Congenital dyserythropoietic anemia, type I", "diseaseFromSourceId": "C0271933", "diseaseFromSourceMappedId": "Orphanet_98869", "variantHgvsId": "NC_000015.10:g.42735170C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001121777", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140470", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "15_99972113_T_C", "variantRsId": "rs945247732", "cohortPhenotypes": ["Weill-Marchesani 4 syndrome, recessive", "Weill-Marchesani syndrome 4", "Weill-Marchesani-like syndrome"], "diseaseFromSource": "Weill-Marchesani 4 syndrome, recessive", "diseaseFromSourceId": "C2750787", "diseaseFromSourceMappedId": "MONDO_0013176", "variantHgvsId": "NC_000015.10:g.99972113T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001121777", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140470", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "15_99972113_T_C", "variantRsId": "rs945247732", "cohortPhenotypes": ["Weill-Marchesani 4 syndrome, recessive", "Weill-Marchesani syndrome 4", "Weill-Marchesani-like syndrome"], "diseaseFromSource": "Weill-Marchesani 4 syndrome, recessive", "diseaseFromSourceId": "C2750787", "diseaseFromSourceMappedId": "Orphanet_3449", "variantHgvsId": "NC_000015.10:g.99972113T>C"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001123999", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000184640", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_77499030_C_T", "variantRsId": "rs773235757", "cohortPhenotypes": ["Amyotrophic neuralgia", "Amyotrophy, hereditary neuralgic", "Amyotrophy, hereditary neuralgic, with predilection for brachial plexus", "Brachial plexus neuropathy, hereditary", "Neuritis with brachial predilection"], "diseaseFromSource": "Amyotrophic neuralgia", "diseaseFromSourceId": "C1834304", "diseaseFromSourceMappedId": "MONDO_0017362", "variantHgvsId": "NC_000017.11:g.77499030C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001124072", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000004939", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_44249713_C_T", "variantRsId": "rs1174269872", "cohortPhenotypes": ["Autosomal dominant distal renal tubular acidosis", "RENAL TUBULAR ACIDOSIS, DISTAL, 1", "RTA, classic type", "RTA, distal type, autosomal dominant", "RTA, gradient type", "Renal Tubular Acidosis, Type I", "Renal tubular acidosis 1"], "diseaseFromSource": "Autosomal dominant distal renal tubular acidosis", "diseaseFromSourceId": "CN280572", "diseaseFromSourceMappedId": "MONDO_0008368", "variantHgvsId": "NC_000017.11:g.44249713C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001126371", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000166685", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_73201307_A_G", "variantRsId": "rs779677895", "cohortPhenotypes": ["CDG 2G", "CDG IIg", "CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME", "COG1 congenital disorder of glycosylation", "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg", "Congenital disorder of glycosylation type 2G"], "diseaseFromSource": "COG1 congenital disorder of glycosylation", "diseaseFromSourceId": "C2931011", "diseaseFromSourceMappedId": "MONDO_0012637", "variantHgvsId": "NC_000017.11:g.73201307A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001127077", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000167210", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_46529203_G_A", "variantRsId": "rs200819355", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 77", "Deafness, autosomal recessive 77"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 77", "diseaseFromSourceId": "C2746083", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000018.10:g.46529203G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001127542", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000183287", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "18_59432669_C_G", "variantRsId": "rs1909983760", "cohortPhenotypes": ["Hennekam lymphangiectasia-lymphedema syndrome 1", "LYMPHATIC DYSPLASIA, GENERALIZED"], "diseaseFromSource": "Hennekam lymphangiectasia-lymphedema syndrome 1", "diseaseFromSourceId": "C4012050", "diseaseFromSourceMappedId": "MONDO_0016256", "variantHgvsId": "NC_000018.10:g.59432669C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001128846", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178570877_A_G", "variantRsId": "rs1707950573", "cohortPhenotypes": ["EDSTROM MYOPATHY", "Hereditary myopathy with early respiratory failure", "MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT", "Myopathy, distal, with early respiratory failure, autosomal dominant", "Myopathy, myofibrillar, 9, with early respiratory failure"], "diseaseFromSource": "Myopathy, myofibrillar, 9, with early respiratory failure", "diseaseFromSourceId": "C1863599", "diseaseFromSourceMappedId": "Orphanet_178464", "variantHgvsId": "NC_000002.12:g.178570877A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001133636", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_178730081_T_C", "variantRsId": "rs376899412", "cohortPhenotypes": ["Distal myopathy Markesbery-Griggs type", "Tibial muscular dystrophy", "Tibial muscular dystrophy, tardive", "UDD Myopathy", "Udd Distal Myopathy"], "diseaseFromSource": "Tibial muscular dystrophy", "diseaseFromSourceId": "C1838244", "diseaseFromSourceMappedId": "Orphanet_98912", "variantHgvsId": "NC_000002.12:g.178730081T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001133636", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_178730081_T_C", "variantRsId": "rs376899412", "cohortPhenotypes": ["Distal myopathy Markesbery-Griggs type", "Tibial muscular dystrophy", "Tibial muscular dystrophy, tardive", "UDD Myopathy", "Udd Distal Myopathy"], "diseaseFromSource": "Tibial muscular dystrophy", "diseaseFromSourceId": "C1838244", "diseaseFromSourceMappedId": "MONDO_0010870", "variantHgvsId": "NC_000002.12:g.178730081T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001134935", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "2_166375738_C_A", "variantRsId": "rs569406301", "cohortPhenotypes": ["PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING", "Paroxysmal extreme pain disorder", "RECTAL PAIN, FAMILIAL"], "diseaseFromSource": "Paroxysmal extreme pain disorder", "diseaseFromSourceId": "C1833661", "diseaseFromSourceMappedId": "MONDO_0008179", "variantHgvsId": "NC_000002.12:g.166375738C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001135688", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000171105", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "19_7114304_G_C", "variantRsId": "rs577444458", "cohortPhenotypes": ["Mendenhall Syndrome", "Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities", "Pineal hyperplasia AND diabetes mellitus syndrome", "Rabson-Mendenhall Syndrome"], "diseaseFromSource": "Pineal hyperplasia AND diabetes mellitus syndrome", "diseaseFromSourceId": "C0271695", "diseaseFromSourceMappedId": "MONDO_0009874", "variantHgvsId": "NC_000019.10:g.7114304G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001136266", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178546776_A_G", "variantRsId": "rs369870689", "cohortPhenotypes": ["EDSTROM MYOPATHY", "Hereditary myopathy with early respiratory failure", "MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT", "Myopathy, distal, with early respiratory failure, autosomal dominant", "Myopathy, myofibrillar, 9, with early respiratory failure"], "diseaseFromSource": "Myopathy, myofibrillar, 9, with early respiratory failure", "diseaseFromSourceId": "C1863599", "diseaseFromSourceMappedId": "Orphanet_178464", "variantHgvsId": "NC_000002.12:g.178546776A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001138227", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000101384", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_10648021_C_A", "variantRsId": "rs1337206941", "cohortPhenotypes": ["Isolated Nonsyndromic Congenital Heart Disease"], "diseaseFromSource": "Isolated Nonsyndromic Congenital Heart Disease", "diseaseFromSourceId": "CN239319", "variantHgvsId": "NC_000020.11:g.10648021C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001140928", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000101292", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_5302398_C_A", "variantRsId": "rs143647776", "cohortPhenotypes": ["HYPOGONADOTROPIC HYPOGONADISM 3 WITH ANOSMIA", "Hypogonadotropic hypogonadism 3 with or without anosmia", "Kallmann syndrome 3", "PROKR2-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency"], "diseaseFromSource": "Hypogonadotropic hypogonadism 3 with or without anosmia", "diseaseFromSourceId": "C3550478", "diseaseFromSourceMappedId": "Orphanet_478", "variantHgvsId": "NC_000020.11:g.5302398C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001142553", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000172071", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "2_88557632_T_G", "variantRsId": "rs1474906844", "cohortPhenotypes": ["Wolcott Rallison syndrome", "Wolcott-Rallison dysplasia"], "diseaseFromSource": "Wolcott-Rallison dysplasia", "diseaseFromSourceId": "C0432217", "diseaseFromSourceMappedId": "MONDO_0009192", "variantHgvsId": "NC_000002.12:g.88557632T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001143835", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000183421", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "21_41740634_C_T", "variantRsId": "rs533596469", "cohortPhenotypes": ["BARTSOCAS-PAPAS SYNDROME 1", "Bartsocas-Papas syndrome", "MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE", "POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE 1", "PTERYGIUM, POPLITEAL, LETHAL TYPE", "Popliteal pterygium syndrome lethal type"], "diseaseFromSource": "Bartsocas-Papas syndrome", "diseaseFromSourceId": "C1849718", "diseaseFromSourceMappedId": "MONDO_0009901", "variantHgvsId": "NC_000021.9:g.41740634C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001143835", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000183421", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "21_41740634_C_T", "variantRsId": "rs533596469", "cohortPhenotypes": ["BARTSOCAS-PAPAS SYNDROME 1", "Bartsocas-Papas syndrome", "MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE", "POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE 1", "PTERYGIUM, POPLITEAL, LETHAL TYPE", "Popliteal pterygium syndrome lethal type"], "diseaseFromSource": "Bartsocas-Papas syndrome", "diseaseFromSourceId": "C1849718", "diseaseFromSourceMappedId": "Orphanet_1234", "variantHgvsId": "NC_000021.9:g.41740634C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001146411", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000113966", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_97788005_G_A", "variantRsId": "rs142258123", "cohortPhenotypes": ["Retinitis pigmentosa", "Tapetoretinal degeneration"], "diseaseFromSource": "Retinitis pigmentosa", "diseaseFromSourceId": "C0035334", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000003.12:g.97788005G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001135688", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000171105", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "19_7114304_G_C", "variantRsId": "rs577444458", "cohortPhenotypes": ["Mendenhall Syndrome", "Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities", "Pineal hyperplasia AND diabetes mellitus syndrome", "Rabson-Mendenhall syndrome"], "diseaseFromSource": "Rabson-Mendenhall syndrome", "diseaseFromSourceId": "C0271695", "diseaseFromSourceMappedId": "MONDO_0009874", "variantHgvsId": "NC_000019.10:g.7114304G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001140928", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000101292", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_5302398_C_A", "variantRsId": "rs143647776", "cohortPhenotypes": ["HYPOGONADOTROPIC HYPOGONADISM 3 WITH ANOSMIA", "Hypogonadotropic hypogonadism 3 with or without anosmia", "Kallmann syndrome 3"], "diseaseFromSource": "Hypogonadotropic hypogonadism 3 with or without anosmia", "diseaseFromSourceId": "C3550478", "diseaseFromSourceMappedId": "Orphanet_478", "variantHgvsId": "NC_000020.11:g.5302398C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001142553", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000172071", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "2_88557632_T_G", "variantRsId": "rs1474906844", "cohortPhenotypes": ["Wolcott-Rallison dysplasia", "Wolcott-Rallison syndrome"], "diseaseFromSource": "Wolcott-Rallison dysplasia", "diseaseFromSourceId": "C0432217", "diseaseFromSourceMappedId": "MONDO_0009192", "variantHgvsId": "NC_000002.12:g.88557632T>G"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001148356", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000163666", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "3_57199924_C_T", "variantRsId": "rs368171529", "cohortPhenotypes": ["De morsier syndrome", "Hypopituitarism and septooptic 'dysplasia'", "Septo-optic dysplasia", "Septo-optic dysplasia sequence", "Septo-optic dysplasia with growth hormone deficiency"], "diseaseFromSource": "Septo-optic dysplasia sequence", "diseaseFromSourceId": "C0338503", "diseaseFromSourceMappedId": "Orphanet_3157", "variantHgvsId": "NC_000003.12:g.57199924C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001149041", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000163817", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_45758959_C_T", "variantRsId": "rs191934337", "cohortPhenotypes": ["GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS", "GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS", "Hyperglycinuria", "IMINOGLYCINURIA TYPE II"], "diseaseFromSource": "Hyperglycinuria", "diseaseFromSourceId": "C0543541", "diseaseFromSourceMappedId": "HP_0003108", "variantHgvsId": "NC_000003.12:g.45758959C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001150592", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000121207", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "4_154750256_C_T", "variantRsId": "rs745651761", "cohortPhenotypes": ["Leber congenital amaurosis 14"], "diseaseFromSource": "Leber congenital amaurosis 14", "diseaseFromSourceId": "C2750063", "diseaseFromSourceMappedId": "MONDO_0018998", "variantHgvsId": "NC_000004.12:g.154750256C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001153501", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000145794", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_127459867_G_C", "variantRsId": "rs75434042", "cohortPhenotypes": ["MEGF10-Related Myopathy", "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset"], "diseaseFromSource": "MEGF10-Related Myopathy", "diseaseFromSourceId": "C3280679", "diseaseFromSourceMappedId": "MONDO_0013731", "variantHgvsId": "NC_000005.10:g.127459867G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001153501", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000145794", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_127459867_G_C", "variantRsId": "rs75434042", "cohortPhenotypes": ["MEGF10-Related Myopathy", "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset"], "diseaseFromSource": "MEGF10-Related Myopathy", "diseaseFromSourceId": "C3280679", "diseaseFromSourceMappedId": "Orphanet_98920", "variantHgvsId": "NC_000005.10:g.127459867G>C"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001153859", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000135604", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "6_144189005_T_C", "variantRsId": "rs895149662", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 4"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 4", "diseaseFromSourceId": "C1863728", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000006.12:g.144189005T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001158788", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000242802", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_4794226_A_G", "variantRsId": "rs62453211", "cohortPhenotypes": ["Hereditary spastic paraplegia 48", "Spastic paraplegia 48", "Spastic paraplegia 48, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 48", "diseaseFromSourceId": "C3150901", "diseaseFromSourceMappedId": "Orphanet_306511", "variantHgvsId": "NC_000007.14:g.4794226A>G"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160605", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000171453", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_43517306_G_A", "variantRsId": "rs948560181", "cohortPhenotypes": ["Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive", "Treacher Collins syndrome 3"], "diseaseFromSource": "Treacher Collins syndrome 3", "diseaseFromSourceId": "C1855433", "diseaseFromSourceMappedId": "Orphanet_861", "variantHgvsId": "NC_000006.12:g.43517306G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160605", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000171453", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_43517306_G_A", "variantRsId": "rs948560181", "cohortPhenotypes": ["Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive", "Treacher Collins syndrome 3"], "diseaseFromSource": "Treacher Collins syndrome 3", "diseaseFromSourceId": "C1855433", "diseaseFromSourceMappedId": "MONDO_0002457", "variantHgvsId": "NC_000006.12:g.43517306G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160997", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000179142", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "8_142917684_G_A", "variantRsId": "rs747248100", "cohortPhenotypes": ["ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME", "ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE", "FH I", "GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM", "Glucocorticoid-remediable aldosteronism", "Hyperaldosteronism, familial, type I"], "diseaseFromSource": "Glucocorticoid-remediable aldosteronism", "diseaseFromSourceId": "C1260386", "diseaseFromSourceMappedId": "MONDO_0007080", "variantHgvsId": "NC_000008.11:g.142917684G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160997", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000179142", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "8_142917684_G_A", "variantRsId": "rs747248100", "cohortPhenotypes": ["ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME", "ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE", "FH I", "GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM", "Glucocorticoid-remediable aldosteronism", "Hyperaldosteronism, familial, type I"], "diseaseFromSource": "Glucocorticoid-remediable aldosteronism", "diseaseFromSourceId": "C1260386", "diseaseFromSourceMappedId": "Orphanet_403", "variantHgvsId": "NC_000008.11:g.142917684G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001166312", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000147894", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_27547172_T_C", "variantRsId": "rs184151041", "cohortPhenotypes": ["Frontotemporal dementia and/or amyotrophic lateral sclerosis 1", "Frontotemporal dementia with motor neuron disease 1"], "diseaseFromSource": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 1", "diseaseFromSourceId": "C3888102", "diseaseFromSourceMappedId": "MONDO_0007105", "variantHgvsId": "NC_000009.12:g.27547172T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001166842", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000169071", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_91731104_G_A", "variantRsId": "rs1837228232", "cohortPhenotypes": ["Autosomal recessive Robinow syndrome", "COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA", "COVESDEM SYNDROME", "ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1"], "diseaseFromSource": "Autosomal recessive Robinow syndrome", "diseaseFromSourceId": "C5399974", "diseaseFromSourceMappedId": "MONDO_0009999", "variantHgvsId": "NC_000009.12:g.91731104G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001169811", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000178445", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_6532521_A_C", "variantRsId": "rs999698910", "cohortPhenotypes": ["Glycine encephalopathy", "Non-ketotic hyperglycinemia", "Nonketotic hyperglycinemia"], "diseaseFromSource": "Non-ketotic hyperglycinemia", "diseaseFromSourceId": "C0751748", "diseaseFromSourceMappedId": "MONDO_0011612", "variantHgvsId": "NC_000009.12:g.6532521A>C"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001174370", "releaseDate": "2020-06-14", "targetFromSourceId": "ENSG00000171105", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_7141784_G_A", "variantRsId": "rs149536206", "cohortPhenotypes": ["Monogenic diabetes"], "diseaseFromSource": "Monogenic diabetes", "diseaseFromSourceId": "C3888631", "diseaseFromSourceMappedId": "EFO_1001511", "variantHgvsId": "NC_000019.10:g.7141784G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001178962", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000130164", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_11116156_T_G", "variantRsId": "rs2077459810", "cohortPhenotypes": ["Familial hypercholesterolemia"], "diseaseFromSource": "Familial hypercholesterolemia", "diseaseFromSourceId": "C0020445", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000019.10:g.11116156T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001179648", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_52403846_A_G", "variantRsId": "rs1553644986", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000003.12:g.52403846A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001180540", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000169174", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_55046605_T_C", "variantRsId": "rs748403083", "cohortPhenotypes": ["Familial hypercholesterolemia"], "diseaseFromSource": "Familial hypercholesterolemia", "diseaseFromSourceId": "C0020445", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000001.11:g.55046605T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001187337", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_61743154_CA_C", "variantRsId": "rs1474570916", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.61743155del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001196131", "releaseDate": "2020-07-04", "targetFromSourceId": "ENSG00000104728", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_1864432_A_G", "variantRsId": "rs746857277", "cohortPhenotypes": ["Autosomal dominant slowed nerve conduction velocity"], "diseaseFromSource": "Autosomal dominant slowed nerve conduction velocity", "diseaseFromSourceId": "C1842357", "diseaseFromSourceMappedId": "MONDO_0011998", "variantHgvsId": "NC_000008.11:g.1864432A>G"} -{"alleleOrigins": ["uniparental"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV001251897", "releaseDate": "2020-08-15", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_156778479_G_C", "variantRsId": "rs1778855554", "cohortPhenotypes": ["Intellectual disability", "Intellectual functioning disability", "intellectual disabilities"], "diseaseFromSource": "Intellectual disability", "diseaseFromSourceId": "C3714756", "diseaseFromSourceMappedId": "EFO_0003847", "variantHgvsId": "NC_000006.12:g.156778479G>C"} -{"alleleOrigins": ["uniparental"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV001251897", "releaseDate": "2020-08-15", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_156778479_G_C", "variantRsId": "rs1778855554", "cohortPhenotypes": ["Intellectual disability", "Intellectual functioning disability", "intellectual disabilities"], "diseaseFromSource": "Intellectual disability", "diseaseFromSourceId": "C3714756", "diseaseFromSourceMappedId": "HP_0001249", "variantHgvsId": "NC_000006.12:g.156778479G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001253978", "releaseDate": "2020-08-21", "targetFromSourceId": "ENSG00000120156", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "9_27206796_A_G", "variantRsId": "rs779970349", "cohortPhenotypes": ["Multiple cutaneous and mucosal venous malformations"], "diseaseFromSource": "Multiple cutaneous and mucosal venous malformations", "diseaseFromSourceId": "C1838437", "diseaseFromSourceMappedId": "Orphanet_2451", "variantHgvsId": "NC_000009.12:g.27206796A>G"} -{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001255967", "releaseDate": "2020-09-19", "targetFromSourceId": "ENSG00000225968", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["ELFN1-related condition"], "diseaseFromSource": "ELFN1-related condition", "variantHgvsId": "NC_000007.14:g.1687729_1779914del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001162513", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000165102", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_43202160_G_A", "variantRsId": "rs760484403", "cohortPhenotypes": ["Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency", "MPS 3C", "MPS III C", "MUCOPOLYSACCHARIDOSIS, TYPE IIIC", "Mucopoly-saccharidosis type 3C", "Mucopolysaccharidosis type IIIC (Sanfilippo C)", "Mucopolysaccharidosis, MPS-III-C", "Sanfilippo syndrome C"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-III-C", "diseaseFromSourceId": "C0086649", "diseaseFromSourceMappedId": "MONDO_0009657", "variantHgvsId": "NC_000008.11:g.43202160G>A"} +{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001249587", "releaseDate": "2020-07-19", "targetFromSourceId": "ENSG00000113721", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "5_150125535_T_TCACAGACTCAATCACCTTCCATCGGATCAGCTC", "variantRsId": "rs1760270922", "cohortPhenotypes": ["Congenital generalized fibromatosis", "Infantile myofibromatosis"], "diseaseFromSource": "Infantile myofibromatosis", "diseaseFromSourceId": "C0432284", "diseaseFromSourceMappedId": "MONDO_0016824", "variantHgvsId": "NC_000005.10:g.150125536_150125563CA[2]GACTCAATCACCTTCCATCGGATCAGCTCCACAGACTCAATCACCTTCCATCGGATC[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no classification provided", "studyId": "RCV000043259", "releaseDate": "2013-05-04", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "16_2086872_G_T", "variantRsId": "rs45517386", "cohortPhenotypes": ["Tuberous sclerosis", "Tuberous sclerosis syndrome"], "diseaseFromSource": "Tuberous sclerosis syndrome", "diseaseFromSourceId": "C0041341", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2086872G>T"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000667804", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000188603", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "16_28488663_C_T", "variantRsId": "rs1555469089", "cohortPhenotypes": ["CLN3 Disease", "CLN3-Related Neuronal Ceroid-Lipofuscinosis", "Neuronal ceroid lipofuscinosis 3", "Spielmeyer Sjogren disease"], "diseaseFromSource": "Neuronal ceroid lipofuscinosis 3", "diseaseFromSourceId": "C0751383", "diseaseFromSourceMappedId": "Orphanet_228346", "variantHgvsId": "NC_000016.10:g.28488663C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001002696", "releaseDate": "2020-02-15", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "8_99661492_G_C", "variantRsId": "rs750003804", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", "diseaseFromSourceId": "C0265223", "diseaseFromSourceMappedId": "MONDO_0008999", "variantHgvsId": "NC_000008.11:g.99661492G>C"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000022242", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000213930", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_34649462_C_T", "variantRsId": "rs111033792", "cohortPhenotypes": ["Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase", "GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY", "GALACTOSEMIA I", "GALT deficiency", "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia, classic", "Transferase Deficiency Galactosemia"], "diseaseFromSource": "Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase", "diseaseFromSourceId": "C0268151", "diseaseFromSourceMappedId": "MONDO_0009258", "variantHgvsId": "NC_000009.12:g.34649462C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "no assertion criteria provided", "studyId": "RCV000224048", "releaseDate": "2016-06-09", "targetFromSourceId": "ENSG00000105607", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_12897345_G_A", "variantRsId": "rs878853156", "cohortPhenotypes": ["GA I", "Glutaric acidemia type I", "Glutaric aciduria, type 1", "Glutaricacidemia Type 1", "Glutaricaciduria, type I", "Glutaryl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Glutaric aciduria, type 1", "diseaseFromSourceId": "C0268595", "diseaseFromSourceMappedId": "MONDO_0009281", "variantHgvsId": "NC_000019.10:g.12897345G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001107261", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000187240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_103211834_G_A", "variantRsId": "rs368447956", "cohortPhenotypes": ["Asphyxiating thoracic dystrophy 3", "POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I", "Polydactyly with neonatal chondrodystrophy type 1", "Polydactyly with neonatal chondrodystrophy type III", "SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC", "SRPS type 1", "SRPS type 3", "Saldino-Noonan Syndrome", "Short rib polydactyly syndrome 2B", "Short rib-polydactyly syndrome type 3", "Short rib-polydactyly syndrome Saldino-Noonan type", "Short rib-polydactyly syndrome type 1", "Short-rib polydactyly syndrome type I", "Short-rib polydactyly syndrome type III", "Short-rib thoracic dysplasia 3 with or without polydactyly", "Verma Naumoff syndrome"], "diseaseFromSource": "Asphyxiating thoracic dystrophy 3", "diseaseFromSourceId": "C0036069", "diseaseFromSourceMappedId": "Orphanet_93270", "variantHgvsId": "NC_000011.10:g.103211834G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001107261", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000187240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_103211834_G_A", "variantRsId": "rs368447956", "cohortPhenotypes": ["Asphyxiating thoracic dystrophy 3", "POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I", "Polydactyly with neonatal chondrodystrophy type 1", "Polydactyly with neonatal chondrodystrophy type III", "SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC", "SRPS type 1", "SRPS type 3", "Saldino-Noonan Syndrome", "Short rib polydactyly syndrome 2B", "Short rib-polydactyly syndrome type 3", "Short rib-polydactyly syndrome Saldino-Noonan type", "Short rib-polydactyly syndrome type 1", "Short-rib polydactyly syndrome type I", "Short-rib polydactyly syndrome type III", "Short-rib thoracic dysplasia 3 with or without polydactyly", "Verma Naumoff syndrome"], "diseaseFromSource": "Asphyxiating thoracic dystrophy 3", "diseaseFromSourceId": "C0036069", "diseaseFromSourceMappedId": "Orphanet_93271", "variantHgvsId": "NC_000011.10:g.103211834G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001107261", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000187240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_103211834_G_A", "variantRsId": "rs368447956", "cohortPhenotypes": ["Asphyxiating thoracic dystrophy 3", "POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I", "Polydactyly with neonatal chondrodystrophy type 1", "Polydactyly with neonatal chondrodystrophy type III", "SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC", "SRPS type 1", "SRPS type 3", "Saldino-Noonan Syndrome", "Short rib polydactyly syndrome 2B", "Short rib-polydactyly syndrome type 3", "Short rib-polydactyly syndrome Saldino-Noonan type", "Short rib-polydactyly syndrome type 1", "Short-rib polydactyly syndrome type I", "Short-rib polydactyly syndrome type III", "Short-rib thoracic dysplasia 3 with or without polydactyly", "Verma Naumoff syndrome"], "diseaseFromSource": "Asphyxiating thoracic dystrophy 3", "diseaseFromSourceId": "C0036069", "diseaseFromSourceMappedId": "Orphanet_93269", "variantHgvsId": "NC_000011.10:g.103211834G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001116620", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140374", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_76283762_G_C", "variantRsId": "rs202121622", "cohortPhenotypes": ["Ethylmalonic-adipicaciduria", "GA 2", "GA II", "Glutaric acidemia type 2", "Glutaric acidemia type II", "Glutaric aciduria, type 2", "Multiple acyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Multiple acyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C0268596", "diseaseFromSourceMappedId": "HP_0003150", "variantHgvsId": "NC_000015.10:g.76283762G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001116620", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140374", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_76283762_G_C", "variantRsId": "rs202121622", "cohortPhenotypes": ["Ethylmalonic-adipicaciduria", "GA 2", "GA II", "Glutaric acidemia type 2", "Glutaric acidemia type II", "Glutaric aciduria, type 2", "Multiple acyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Multiple acyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C0268596", "diseaseFromSourceMappedId": "MONDO_0009282", "variantHgvsId": "NC_000015.10:g.76283762G>C"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001266126", "releaseDate": "2020-11-21", "targetFromSourceId": "ENSG00000275410", "variantFunctionalConsequenceId": "SO_0001787", "variantId": "17_37739433_CACTT_C", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000017.11:g.37739436_37739439del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001276465", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000158169", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_95247444_T_C", "variantRsId": "rs1064793110", "cohortPhenotypes": ["FACC", "FANCONI PANCYTOPENIA, TYPE 3", "Fanconi anemia complementation group C", "Fanconi anemia, group C"], "diseaseFromSource": "Fanconi anemia complementation group C", "diseaseFromSourceId": "C3468041", "diseaseFromSourceMappedId": "MONDO_0009213", "variantHgvsId": "NC_000009.12:g.95247444T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001278266", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000107736", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_71778253_T_C", "variantRsId": "rs762613557", "cohortPhenotypes": ["Retinitis pigmentosa and congenital deafness", "Usher syndrome type 1", "Usher syndrome, type I, French variety"], "diseaseFromSource": "Usher syndrome type 1", "diseaseFromSourceId": "C1568247", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000010.11:g.71778253T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["10208170", "11445641", "1605193", "1675488", "9719368"], "studyId": "RCV000010653", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000102081", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["FMR1-Related Primary Ovarian Insufficiency", "Fragile x premature ovarian failure", "HYPERGONADOTROPIC OVARIAN FAILURE, X-LINKED", "PREMATURE OVARIAN FAILURE, X-LINKED", "Premature ovarian failure 1", "Primary ovarian insufficiency, fragile X-associated"], "diseaseFromSource": "Premature ovarian failure 1", "diseaseFromSourceId": "C4552079", "diseaseFromSourceMappedId": "EFO_0004266", "variantHgvsId": "NM_002024.6:c.-128GGM[55_?]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000087449", "releaseDate": "2014-03-13", "targetFromSourceId": "ENSG00000168542", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_188999367_G_A", "variantRsId": "rs587779512", "cohortPhenotypes": ["Ehlers Danlos syndrome, Sack-Barabas type", "Ehlers Danlos syndrome, arterial type", "Ehlers Danlos syndrome, ecchymotic type", "Ehlers-Danlos Syndrome Type IV", "Ehlers-Danlos syndrome vascular type", "Ehlers-Danlos syndrome, type 4"], "diseaseFromSource": "Ehlers-Danlos syndrome, type 4", "diseaseFromSourceId": "C0268338", "diseaseFromSourceMappedId": "MONDO_0017314", "variantHgvsId": "NC_000002.12:g.188999367G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000293687", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000113273", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_78779779_G_A", "variantRsId": "rs757857543", "cohortPhenotypes": ["Arylsulfatase B deficiency", "MPS 6", "MPS VI", "Maroteaux Lamy syndrome", "Mucopolysaccharidosis type 6", "Mucopolysaccharidosis type VI", "N-acetylgalactosamine-4-sulfatase deficiency"], "diseaseFromSource": "Mucopolysaccharidosis type 6", "diseaseFromSourceId": "C0026709", "diseaseFromSourceMappedId": "MONDO_0009661", "variantHgvsId": "NC_000005.10:g.78779779G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000293687", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000113273", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_78779779_G_A", "variantRsId": "rs757857543", "cohortPhenotypes": ["Arylsulfatase B deficiency", "MPS 6", "MPS VI", "Maroteaux Lamy syndrome", "Mucopolysaccharidosis type 6", "Mucopolysaccharidosis type VI", "N-acetylgalactosamine-4-sulfatase deficiency"], "diseaseFromSource": "Mucopolysaccharidosis type 6", "diseaseFromSourceId": "C0026709", "diseaseFromSourceMappedId": "Orphanet_79213", "variantHgvsId": "NC_000005.10:g.78779779G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000382958", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000141646", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "18_51084012_G_GCACACACACACACA", "variantRsId": "rs56017493", "cohortPhenotypes": ["Juvenile Polyposis"], "diseaseFromSource": "Juvenile Polyposis", "diseaseFromSourceId": "CN239474", "diseaseFromSourceMappedId": "MONDO_0017380", "variantHgvsId": "NC_000018.10:g.51084013CA[23]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV000490601", "releaseDate": "2017-06-03", "targetFromSourceId": "ENSG00000095002", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1", "Colorectal cancer, hereditary, nonpolyposis, type 1", "Hereditary non-polyposis colorectal cancer, type 1", "Lynch syndrome 1", "Lynch syndrome I", "MSH2-Related Hereditary Non-Polyposis Colon Cancer", "MSH2-Related Lynch Syndrome"], "diseaseFromSource": "Lynch syndrome 1", "diseaseFromSourceId": "C2936783", "diseaseFromSourceMappedId": "Orphanet_144", "variantHgvsId": "NC_000002.12:g.47439264_47450433del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000817413", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000127666", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_4816746_C_G", "variantRsId": "rs1284363590", "cohortPhenotypes": ["ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6", "Herpes simplex encephalitis, susceptibility to, 4"], "diseaseFromSource": "Herpes simplex encephalitis, susceptibility to, 4", "diseaseFromSourceId": "C3553869", "diseaseFromSourceMappedId": "MONDO_0013921", "variantHgvsId": "NC_000019.10:g.4816746C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000817413", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000127666", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_4816746_C_G", "variantRsId": "rs1284363590", "cohortPhenotypes": ["ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6", "Herpes simplex encephalitis, susceptibility to, 4"], "diseaseFromSource": "Herpes simplex encephalitis, susceptibility to, 4", "diseaseFromSourceId": "C3553869", "diseaseFromSourceMappedId": "Orphanet_1930", "variantHgvsId": "NC_000019.10:g.4816746C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000850510", "releaseDate": "2019-09-21", "targetFromSourceId": "ENSG00000144285", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166002623_T_A", "variantRsId": "rs1131691775", "cohortPhenotypes": ["DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A", "Dravet syndrome", "Epilepsy, Myoclonic, Infantile, Severe", "Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)", "GEFS+, TYPE 2", "Generalized epilepsy with febrile seizures plus, type 2", "Migraine, familial hemiplegic, 3", "Severe myoclonic epilepsy in infancy"], "diseaseFromSource": "Migraine, familial hemiplegic, 3", "diseaseFromSourceId": "C1864987", "diseaseFromSourceMappedId": "MONDO_0018925", "variantHgvsId": "NC_000002.12:g.166002623T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000850510", "releaseDate": "2019-09-21", "targetFromSourceId": "ENSG00000144285", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166002623_T_A", "variantRsId": "rs1131691775", "cohortPhenotypes": ["DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A", "Dravet syndrome", "Epilepsy, Myoclonic, Infantile, Severe", "Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)", "GEFS+, TYPE 2", "Generalized epilepsy with febrile seizures plus, type 2", "Migraine, familial hemiplegic, 3", "Severe myoclonic epilepsy in infancy"], "diseaseFromSource": "Severe myoclonic epilepsy in infancy", "diseaseFromSourceId": "C0751122", "diseaseFromSourceMappedId": "Orphanet_33069", "variantHgvsId": "NC_000002.12:g.166002623T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000850510", "releaseDate": "2019-09-21", "targetFromSourceId": "ENSG00000144285", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166002623_T_A", "variantRsId": "rs1131691775", "cohortPhenotypes": ["DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A", "Dravet syndrome", "Epilepsy, Myoclonic, Infantile, Severe", "Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)", "GEFS+, TYPE 2", "Generalized epilepsy with febrile seizures plus, type 2", "Migraine, familial hemiplegic, 3", "Severe myoclonic epilepsy in infancy"], "diseaseFromSource": "Generalized epilepsy with febrile seizures plus, type 2", "diseaseFromSourceId": "C1858673", "diseaseFromSourceMappedId": "Orphanet_36387", "variantHgvsId": "NC_000002.12:g.166002623T>A"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000990957", "releaseDate": "2020-01-11", "targetFromSourceId": "ENSG00000102081", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_147928745_A_C", "variantRsId": "rs201580891", "cohortPhenotypes": ["Fra(X) syndrome", "Fragile X syndrome", "Fragile X syndrome, type A", "MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28", "Marker X syndrome", "Martin-Bell syndrome", "X-linked mental retardation and macroorchidism"], "diseaseFromSource": "Fragile X syndrome", "diseaseFromSourceId": "C0016667", "diseaseFromSourceMappedId": "MONDO_0010383", "variantHgvsId": "NC_000023.11:g.147928745A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001121777", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140470", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "15_99972113_T_C", "variantRsId": "rs945247732", "cohortPhenotypes": ["Weill-Marchesani 4 syndrome, recessive", "Weill-Marchesani syndrome 4", "Weill-Marchesani-like syndrome"], "diseaseFromSource": "Weill-Marchesani 4 syndrome, recessive", "diseaseFromSourceId": "C2750787", "diseaseFromSourceMappedId": "MONDO_0013176", "variantHgvsId": "NC_000015.10:g.99972113T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001121777", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140470", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "15_99972113_T_C", "variantRsId": "rs945247732", "cohortPhenotypes": ["Weill-Marchesani 4 syndrome, recessive", "Weill-Marchesani syndrome 4", "Weill-Marchesani-like syndrome"], "diseaseFromSource": "Weill-Marchesani 4 syndrome, recessive", "diseaseFromSourceId": "C2750787", "diseaseFromSourceMappedId": "Orphanet_3449", "variantHgvsId": "NC_000015.10:g.99972113T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001166842", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000169071", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_91731104_G_A", "variantRsId": "rs1837228232", "cohortPhenotypes": ["Autosomal recessive Robinow syndrome", "COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA", "COVESDEM SYNDROME", "ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1"], "diseaseFromSource": "Autosomal recessive Robinow syndrome", "diseaseFromSourceId": "C5399974", "diseaseFromSourceMappedId": "MONDO_0009999", "variantHgvsId": "NC_000009.12:g.91731104G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001169346", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000106991", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_127815148_G_A", "variantRsId": "rs893984357", "cohortPhenotypes": ["Osler Weber Rendu syndrome type 1", "Telangiectasia, hereditary hemorrhagic, type 1"], "diseaseFromSource": "Telangiectasia, hereditary hemorrhagic, type 1", "diseaseFromSourceId": "C4551861", "diseaseFromSourceMappedId": "MONDO_0008535", "variantHgvsId": "NC_000009.12:g.127815148G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001279898", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_71551711_C_T", "variantRsId": "rs2090960824", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "MONDO_0009676", "variantHgvsId": "NC_000002.12:g.71551711C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001279898", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_71551711_C_T", "variantRsId": "rs2090960824", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.71551711C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["30822429", "32098969"], "studyId": "RCV001290959", "releaseDate": "2021-02-13", "targetFromSourceId": "ENSG00000130475", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "19_17783101_T_TG", "variantRsId": "rs2093571190", "cohortPhenotypes": ["Immunodeficiency 76"], "diseaseFromSource": "Immunodeficiency 76", "diseaseFromSourceId": "C5543004", "variantHgvsId": "NC_000019.10:g.17783102dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001309369", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000155975", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_17274740_A_G", "variantRsId": "rs371463914", "cohortPhenotypes": ["Hereditary spastic paraplegia 53", "Spastic paraplegia 53, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 53", "diseaseFromSourceId": "C3539494", "diseaseFromSourceMappedId": "Orphanet_319199", "variantHgvsId": "NC_000008.11:g.17274740A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001312346", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000185379", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_35103291_A_G", "variantRsId": "rs2091560784", "cohortPhenotypes": ["Breast-ovarian cancer, familial 4", "Breast-ovarian cancer, familial, susceptibility to, 4"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 4", "diseaseFromSourceId": "C3280345", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.35103291A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001321429", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000176165", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_28767506_C_T", "variantRsId": "rs1381438340", "cohortPhenotypes": ["Rett syndrome, congenital variant"], "diseaseFromSource": "Rett syndrome, congenital variant", "diseaseFromSourceId": "C3150705", "diseaseFromSourceMappedId": "MONDO_0010726", "variantHgvsId": "NC_000014.9:g.28767506C>T"} -{"alleleOrigins": ["paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001330958", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000111860", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "6_118558982_C_T", "variantRsId": "rs397516786", "cohortPhenotypes": ["Familial hypertrophic cardiomyopathy 18", "Hypertrophic cardiomyopathy 18"], "diseaseFromSource": "Hypertrophic cardiomyopathy 18", "diseaseFromSourceId": "C3151265", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000006.12:g.118558982C>T"} -{"alleleOrigins": ["paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001330958", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000198523", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_118558982_C_T", "variantRsId": "rs397516786", "cohortPhenotypes": ["Familial hypertrophic cardiomyopathy 18", "Hypertrophic cardiomyopathy 18"], "diseaseFromSource": "Hypertrophic cardiomyopathy 18", "diseaseFromSourceId": "C3151265", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000006.12:g.118558982C>T"} -{"alleleOrigins": ["germline", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001336651", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000165970", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_20652404_T_C", "variantRsId": "rs142855098", "cohortPhenotypes": ["HYPEREKPLEXIA 3, AUTOSOMAL DOMINANT", "HYPEREKPLEXIA 3, AUTOSOMAL RECESSIVE", "Hyperekplexia 3"], "diseaseFromSource": "Hyperekplexia 3", "diseaseFromSourceId": "C3553288", "diseaseFromSourceMappedId": "MONDO_0021022", "variantHgvsId": "NC_000011.10:g.20652404T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001374818", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "15_48520658_C_T", "cohortPhenotypes": ["Isolated thoracic aortic aneurysm"], "diseaseFromSource": "Isolated thoracic aortic aneurysm", "variantHgvsId": "NC_000015.10:g.48520658C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001376222", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000105618", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_54123761_G_GGAGGAGGAGCTCC", "cohortPhenotypes": ["RP 11", "Retinitis pigmentosa 11"], "diseaseFromSource": "Retinitis pigmentosa 11", "diseaseFromSourceId": "C1838601", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000019.10:g.54123762_54123772GAG[3]CTCCGAGGAGGAGCT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001376222", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000237017", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_54123761_G_GGAGGAGGAGCTCC", "cohortPhenotypes": ["RP 11", "Retinitis pigmentosa 11"], "diseaseFromSource": "Retinitis pigmentosa 11", "diseaseFromSourceId": "C1838601", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000019.10:g.54123762_54123772GAG[3]CTCCGAGGAGGAGCT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377853", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000145375", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "4_122979387_G_T", "cohortPhenotypes": ["Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome", "NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES"], "diseaseFromSource": "Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome", "diseaseFromSourceId": "C4225276", "variantHgvsId": "NC_000004.12:g.122979387G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001450487", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_37011847_T_C", "variantRsId": "rs754102133", "cohortPhenotypes": ["Hereditary nonpolyposis colorectal neoplasms"], "diseaseFromSource": "Hereditary nonpolyposis colorectal neoplasms", "diseaseFromSourceId": "C0009405", "diseaseFromSourceMappedId": "EFO_0009911", "variantHgvsId": "NC_000003.12:g.37011847T>C"} -{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001526477", "releaseDate": "2021-06-19", "targetFromSourceId": "ENSG00000144285", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166038074_A_G", "cohortPhenotypes": ["GEFS+, TYPE 2", "Generalized epilepsy with febrile seizures plus, type 2"], "diseaseFromSource": "Generalized epilepsy with febrile seizures plus, type 2", "diseaseFromSourceId": "C1858673", "diseaseFromSourceMappedId": "Orphanet_36387", "variantHgvsId": "NC_000002.12:g.166038074A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001526726", "releaseDate": "2021-06-19", "targetFromSourceId": "ENSG00000137474", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_77157310_A_G", "cohortPhenotypes": ["Retinitis pigmentosa and congenital deafness", "Usher syndrome type 1", "Usher syndrome, type I, French variety"], "diseaseFromSource": "Usher syndrome type 1", "diseaseFromSourceId": "C1568247", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000011.10:g.77157310A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001537974", "releaseDate": "2021-07-24", "targetFromSourceId": "ENSG00000107521", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "10_98429485_G_A", "cohortPhenotypes": ["DELTA STORAGE POOL DISEASE", "Hermansky-Pudlak syndrome 1"], "diseaseFromSource": "Hermansky-Pudlak syndrome 1", "diseaseFromSourceId": "C2931875", "diseaseFromSourceMappedId": "MONDO_0019312", "variantHgvsId": "NC_000010.11:g.98429485G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001563805", "releaseDate": "2021-08-18", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71668829_C_T", "variantRsId": "rs369627849", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "MONDO_0009676", "variantHgvsId": "NC_000002.12:g.71668829C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001563805", "releaseDate": "2021-08-18", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71668829_C_T", "variantRsId": "rs369627849", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.71668829C>T"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000225267", "releaseDate": "2016-06-23", "targetFromSourceId": "ENSG00000196620", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Premature ovarian failure", "Primary ovarian failure", "Primary ovarian insufficiency"], "diseaseFromSource": "Premature ovarian failure", "diseaseFromSourceId": "C0085215", "diseaseFromSourceMappedId": "EFO_0004266", "variantHgvsId": "NC_000004.12:g.68626601_68646936del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000225340", "releaseDate": "2016-06-23", "targetFromSourceId": "ENSG00000178075", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Premature ovarian failure", "Primary ovarian failure", "Primary ovarian insufficiency"], "diseaseFromSource": "Premature ovarian failure", "diseaseFromSourceId": "C0085215", "diseaseFromSourceMappedId": "EFO_0004266", "variantHgvsId": "NC_000003.12:g.113857357_113901499del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["20020534"], "studyId": "RCV001580158", "releaseDate": "2021-08-27", "targetFromSourceId": "ENSG00000005961", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_44374732_G_A", "variantRsId": "rs80002943", "cohortPhenotypes": ["GLYCOPROTEIN COMPLEX IIb-IIIa DEFICIENCY", "GP IIb-IIIa COMPLEX DEFICIENCY", "Glanzmann thrombasthenia 1", "PLATELET FIBRINOGEN RECEPTOR DEFICIENCY"], "diseaseFromSource": "Glanzmann thrombasthenia 1", "diseaseFromSourceId": "CN300358", "diseaseFromSourceMappedId": "MONDO_0031332", "variantHgvsId": "NC_000017.11:g.44374732G>A"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no classification provided", "studyId": "RCV000161150", "releaseDate": "2015-02-26", "targetFromSourceId": "ENSG00000008128", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Normal pregnancy"], "diseaseFromSource": "Normal pregnancy", "diseaseFromSourceId": "C0232989", "diseaseFromSourceMappedId": "EFO_0002950", "variantHgvsId": "NC_000001.11:g.1696548_1732685del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no classification provided", "studyId": "RCV000161508", "releaseDate": "2015-02-26", "targetFromSourceId": "ENSG00000055609", "variantFunctionalConsequenceId": "SO_0001889", "cohortPhenotypes": ["Large for gestational age"], "diseaseFromSource": "Large for gestational age", "diseaseFromSourceId": "C1848395", "diseaseFromSourceMappedId": "HP_0001520", "variantHgvsId": "NC_000007.14:g.152176768_152580446dup"} +{"alleleOrigins": ["maternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000162201", "releaseDate": "2015-03-16", "targetFromSourceId": "ENSG00000102081", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "X_147912049_C_CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG", "variantRsId": "rs193922936", "cohortPhenotypes": ["Fra(X) syndrome", "Fragile X syndrome", "Fragile X syndrome, type A", "MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28", "Marker X syndrome", "Martin-Bell syndrome", "X-linked mental retardation and macroorchidism"], "diseaseFromSource": "Fragile X syndrome", "diseaseFromSourceId": "C0016667", "diseaseFromSourceMappedId": "MONDO_0010383", "variantHgvsId": "NC_000023.11:g.147912051CGG[201]"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000170117", "releaseDate": "2015-04-24", "targetFromSourceId": "ENSG00000169057", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Autism, dementia, ataxia, and loss of purposeful hand use", "Rett syndrome", "Rett's disorder"], "diseaseFromSource": "Rett syndrome", "diseaseFromSourceId": "C0035372", "diseaseFromSourceMappedId": "MONDO_0010726", "variantHgvsId": "NC_000023.11:g.154015897_154030807del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000170117", "releaseDate": "2015-04-24", "targetFromSourceId": "ENSG00000184216", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autism, dementia, ataxia, and loss of purposeful hand use", "Rett syndrome", "Rett's disorder"], "diseaseFromSource": "Rett syndrome", "diseaseFromSourceId": "C0035372", "diseaseFromSourceMappedId": "MONDO_0010726", "variantHgvsId": "NC_000023.11:g.154015897_154030807del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000170117", "releaseDate": "2015-04-24", "targetFromSourceId": "ENSG00000284286", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Autism, dementia, ataxia, and loss of purposeful hand use", "Rett syndrome", "Rett's disorder"], "diseaseFromSource": "Rett syndrome", "diseaseFromSourceId": "C0035372", "diseaseFromSourceMappedId": "MONDO_0010726", "variantHgvsId": "NC_000023.11:g.154015897_154030807del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000203486", "releaseDate": "2016-01-16", "targetFromSourceId": "ENSG00000021574", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Familial spastic paraplegia autosomal dominant 2", "Hereditary spastic paraplegia 4", "Spastic paraplegia 4, autosomal dominant"], "diseaseFromSource": "Hereditary spastic paraplegia 4", "diseaseFromSourceId": "C1866855", "diseaseFromSourceMappedId": "Orphanet_100985", "variantHgvsId": "NC_000002.12:g.32147746_32173488del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000203486", "releaseDate": "2016-01-16", "targetFromSourceId": "ENSG00000152683", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Familial spastic paraplegia autosomal dominant 2", "Hereditary spastic paraplegia 4", "Spastic paraplegia 4, autosomal dominant"], "diseaseFromSource": "Hereditary spastic paraplegia 4", "diseaseFromSourceId": "C1866855", "diseaseFromSourceMappedId": "Orphanet_100985", "variantHgvsId": "NC_000002.12:g.32147746_32173488del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["22290657"], "studyId": "RCV000207477", "releaseDate": "2016-02-14", "targetFromSourceId": "ENSG00000134532", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Lamb-Shaffer syndrome"], "diseaseFromSource": "Lamb-Shaffer syndrome", "diseaseFromSourceId": "C4225202", "diseaseFromSourceMappedId": "MONDO_0017781", "variantHgvsId": "NC_000012.12:g.23484745_23564581del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["22290657"], "studyId": "RCV000207477", "releaseDate": "2016-02-14", "targetFromSourceId": "ENSG00000134532", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Lamb-Shaffer syndrome"], "diseaseFromSource": "Lamb-Shaffer syndrome", "diseaseFromSourceId": "C4225202", "diseaseFromSourceMappedId": "MONDO_0017782", "variantHgvsId": "NC_000012.12:g.23484745_23564581del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000225526", "releaseDate": "2016-06-24", "targetFromSourceId": "ENSG00000021645", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Autism spectrum disorder", "Autism spectrum disorders"], "diseaseFromSource": "Autism spectrum disorder", "diseaseFromSourceId": "C1510586", "diseaseFromSourceMappedId": "EFO_0003756", "variantHgvsId": "NC_000014.9:g.78581479_79053758del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "literature": ["25851414"], "studyId": "RCV000578146", "releaseDate": "2018-02-02", "targetFromSourceId": "ENSG00000145982", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Hereditary spastic paraplegia 77", "Spastic paraplegia 77, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 77", "diseaseFromSourceId": "C5569007", "diseaseFromSourceMappedId": "Orphanet_685", "variantHgvsId": "NC_000006.12:g.5609990_5726136del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000667105", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000108784", "variantFunctionalConsequenceId": "SO_0001821", "variantId": "17_42536473_G_GGCC", "variantRsId": "rs1469781984", "cohortPhenotypes": ["MPS 3B", "MPS III B", "MUCOPOLYSACCHARIDOSIS, TYPE IIIB", "Mucopoly-saccharidosis type 3B", "Mucopolysaccharidosis type IIIB (Sanfilippo B)", "Mucopolysaccharidosis, MPS-III-B", "N-acetyl-alpha-d-glucosaminidase deficiency", "NAGLU DEFICIENCY", "Sanfilippo syndrome B"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-III-B", "diseaseFromSourceId": "C0086648", "diseaseFromSourceMappedId": "MONDO_0009656", "variantHgvsId": "NC_000017.11:g.42536474_42536475insCCG"} +{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000754108", "releaseDate": "2019-01-26", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770205_45770264CAG[(15_23)]CAGCAGCGG[(10_14)]CAG[(260_320)]"} +{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000754108", "releaseDate": "2019-01-26", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770205_45770264CAG[(15_23)]CAGCAGCGG[(10_14)]CAG[(260_320)]"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000754428", "releaseDate": "2019-01-26", "targetFromSourceId": "ENSG00000112679", "variantFunctionalConsequenceId": "SO_0001580", "cohortPhenotypes": ["Primary amenorrhea"], "diseaseFromSource": "Primary amenorrhea", "diseaseFromSourceId": "C0232939", "diseaseFromSourceMappedId": "HP_0000786", "variantHgvsId": "NC_000006.12:g.259881_303298dup"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000754449", "releaseDate": "2019-01-26", "targetFromSourceId": "ENSG00000130649", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Primary amenorrhea"], "diseaseFromSource": "Primary amenorrhea", "diseaseFromSourceId": "C0232939", "diseaseFromSourceMappedId": "HP_0000786", "variantHgvsId": "NC_000010.11:g.133438823_133565257del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000754449", "releaseDate": "2019-01-26", "targetFromSourceId": "ENSG00000171772", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Primary amenorrhea"], "diseaseFromSource": "Primary amenorrhea", "diseaseFromSourceId": "C0232939", "diseaseFromSourceMappedId": "HP_0000786", "variantHgvsId": "NC_000010.11:g.133438823_133565257del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000754449", "releaseDate": "2019-01-26", "targetFromSourceId": "ENSG00000214279", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Primary amenorrhea"], "diseaseFromSource": "Primary amenorrhea", "diseaseFromSourceId": "C0232939", "diseaseFromSourceMappedId": "HP_0000786", "variantHgvsId": "NC_000010.11:g.133438823_133565257del"} +{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001030909", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000121067", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "17_49619264_T_TC", "variantRsId": "rs2072163565", "cohortPhenotypes": ["Malignant tumor of prostate", "Prostate cancer"], "diseaseFromSource": "Malignant tumor of prostate", "diseaseFromSourceId": "C0376358", "diseaseFromSourceMappedId": "EFO_0001663", "variantHgvsId": "NC_000017.11:g.49619265dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001110445", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000133812", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_9845672_C_T", "variantRsId": "rs1856494115", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B2", "CMT 4B2", "Charcot-Marie-Tooth Neuropathy Type 4B2", "Charcot-Marie-Tooth disease type 4B2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4B2", "diseaseFromSourceId": "C1858278", "diseaseFromSourceMappedId": "MONDO_0011475", "variantHgvsId": "NC_000011.10:g.9845672C>T"} +{"alleleOrigins": ["uniparental"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV001251897", "releaseDate": "2020-08-15", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_156778479_G_C", "variantRsId": "rs1778855554", "cohortPhenotypes": ["Intellectual developmental disorder", "Intellectual disability", "Intellectual functioning disability", "intellectual disabilities"], "diseaseFromSource": "Intellectual disability", "diseaseFromSourceId": "C3714756", "diseaseFromSourceMappedId": "EFO_0003847", "variantHgvsId": "NC_000006.12:g.156778479G>C"} +{"alleleOrigins": ["uniparental"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV001251897", "releaseDate": "2020-08-15", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_156778479_G_C", "variantRsId": "rs1778855554", "cohortPhenotypes": ["Intellectual developmental disorder", "Intellectual disability", "Intellectual functioning disability", "intellectual disabilities"], "diseaseFromSource": "Intellectual disability", "diseaseFromSourceId": "C3714756", "diseaseFromSourceMappedId": "HP_0001249", "variantHgvsId": "NC_000006.12:g.156778479G>C"} +{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001255967", "releaseDate": "2020-09-19", "targetFromSourceId": "ENSG00000225968", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["ELFN1-related condition"], "diseaseFromSource": "ELFN1-related condition", "variantHgvsId": "NC_000007.14:g.1687729_1779914del"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001542382", "releaseDate": "2021-07-31", "targetFromSourceId": "ENSG00000054983", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Galactocerebrosidase deficiency", "Galactosylceramide beta-galactosidase deficiency", "Globoid cell leukoencephalopathy", "Krabbe leukodystrophy", "Leukodystrophy, Globoid Cell"], "diseaseFromSource": "Galactosylceramide beta-galactosidase deficiency", "diseaseFromSourceId": "C0023521", "diseaseFromSourceMappedId": "MONDO_0009499", "variantHgvsId": "NC_000014.9:g.87925163_87956828del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001542680", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000139132", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_32598579_TAGATC_T", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4H", "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4H", "Charcot-Marie-Tooth Neuropathy Type 4H", "Charcot-Marie-Tooth disease type 4H"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4H", "diseaseFromSourceId": "C1836336", "diseaseFromSourceMappedId": "MONDO_0012250", "variantHgvsId": "NC_000012.12:g.32598582_32598586del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001543344", "releaseDate": "2021-07-30", "targetFromSourceId": "ENSG00000141012", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "16_88856849_C_T", "cohortPhenotypes": ["Galactosamine-6-sulfatase deficiency", "MPS 4A", "MPS IVA", "Morquio A disease", "Morquio syndrome A", "Morquio syndrome A, mild", "Mucopolysaccharidosis Type IVA", "Mucopolysaccharidosis type IV A", "Mucopolysaccharidosis, MPS-IV-A"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-IV-A", "diseaseFromSourceId": "C0086651", "diseaseFromSourceMappedId": "MONDO_0009659", "variantHgvsId": "NC_000016.10:g.88856849C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001543344", "releaseDate": "2021-07-30", "targetFromSourceId": "ENSG00000167515", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "16_88856849_C_T", "cohortPhenotypes": ["Galactosamine-6-sulfatase deficiency", "MPS 4A", "MPS IVA", "Morquio A disease", "Morquio syndrome A", "Morquio syndrome A, mild", "Mucopolysaccharidosis Type IVA", "Mucopolysaccharidosis type IV A", "Mucopolysaccharidosis, MPS-IV-A"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-IV-A", "diseaseFromSourceId": "C0086651", "diseaseFromSourceMappedId": "MONDO_0009659", "variantHgvsId": "NC_000016.10:g.88856849C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["30767057"], "studyId": "RCV001543594", "releaseDate": "2021-07-31", "targetFromSourceId": "ENSG00000197467", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "10_69940993_TTC_CCCT", "cohortPhenotypes": ["Congenital myasthenic syndrome 19"], "diseaseFromSource": "Congenital myasthenic syndrome 19", "diseaseFromSourceId": "C4225235", "variantHgvsId": "NC_000010.11:g.69940993_69940995delinsCCCT"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001549198", "releaseDate": "2021-08-07", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "20_25390489_C_G", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "MONDO_0012984", "variantHgvsId": "NC_000020.11:g.25390489C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001549198", "releaseDate": "2021-08-07", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "20_25390489_C_G", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "Orphanet_171848", "variantHgvsId": "NC_000020.11:g.25390489C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001563805", "releaseDate": "2022-02-20", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71668829_C_T", "variantRsId": "rs369627849", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "MONDO_0009676", "variantHgvsId": "NC_000002.12:g.71668829C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001563805", "releaseDate": "2022-02-20", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71668829_C_T", "variantRsId": "rs369627849", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.71668829C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["20020534"], "studyId": "RCV001580158", "releaseDate": "2021-08-27", "targetFromSourceId": "ENSG00000005961", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_44374732_G_A", "variantRsId": "rs80002943", "cohortPhenotypes": ["Glanzmann thrombasthenia 1"], "diseaseFromSource": "Glanzmann thrombasthenia 1", "diseaseFromSourceId": "CN300358", "diseaseFromSourceMappedId": "MONDO_0031332", "variantHgvsId": "NC_000017.11:g.44374732G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "literature": ["3170546"], "studyId": "RCV000000176", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000065154", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_124405545_C_G", "variantRsId": "rs121965040", "cohortPhenotypes": ["Girate atrophy of the retina", "Gyrate atrophy", "Gyrate atrophy of choroid and retina", "Hyperornithinemia with gyrate atrophy of choroid and retina", "OAT deficiency", "OKT deficiency", "Ornithine aminotransferase deficiency", "Ornithine ketoacid aminotransferase deficiency"], "diseaseFromSource": "Ornithine aminotransferase deficiency", "diseaseFromSourceId": "C0018425", "diseaseFromSourceMappedId": "Orphanet_414", "variantHgvsId": "NC_000010.11:g.124405545C>G"} +{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001839108", "releaseDate": "2022-02-26", "targetFromSourceId": "ENSG00000104112", "variantFunctionalConsequenceId": "SO_0001889", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 13", "Early infantile epileptic encephalopathy 13", "SCN8A-Related Epilepsy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 13", "diseaseFromSourceId": "C3281191", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000015.10:g.51681311_51791472dup"} +{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001839108", "releaseDate": "2022-02-26", "targetFromSourceId": "ENSG00000128872", "variantFunctionalConsequenceId": "SO_0001580", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 13", "Early infantile epileptic encephalopathy 13", "SCN8A-Related Epilepsy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 13", "diseaseFromSourceId": "C3281191", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000015.10:g.51681311_51791472dup"} +{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain 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"diseaseFromSourceId": "C4540395", "diseaseFromSourceMappedId": "MONDO_0012455", "variantHgvsId": "NC_000007.14:g.152052676_152295696del"} +{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001839258", "releaseDate": "2022-02-26", "targetFromSourceId": "ENSG00000178234", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Kleefstra syndrome 2"], "diseaseFromSource": "Kleefstra syndrome 2", "diseaseFromSourceId": "C4540395", "diseaseFromSourceMappedId": "MONDO_0012455", "variantHgvsId": "NC_000007.14:g.152052676_152295696del"} +{"alleleOrigins": ["paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "no assertion criteria provided", "studyId": "RCV000201338", "releaseDate": "2015-10-30", "targetFromSourceId": "ENSG00000181143", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_8950404_G_A", "variantRsId": "rs78804712", "cohortPhenotypes": ["Abnormality of neuronal migration"], "diseaseFromSource": "Abnormality of neuronal migration", "diseaseFromSourceId": "C1837249", "diseaseFromSourceMappedId": "HP_0002269", "variantHgvsId": "NC_000019.10:g.8950404G>A"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Congenital cerebellar hypoplasia", "diseaseFromSourceId": "C5231391", "diseaseFromSourceMappedId": "HP_0001321", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Dystonic disorder", "diseaseFromSourceId": "C0013421", "diseaseFromSourceMappedId": "HP_0001332", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Dystonic disorder", "diseaseFromSourceId": "C0013421", "diseaseFromSourceMappedId": "MONDO_0003441", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Global developmental delay", "diseaseFromSourceId": "C0557874", "diseaseFromSourceMappedId": "HP_0001263", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Visual impairment", "diseaseFromSourceId": "C3665347", "diseaseFromSourceMappedId": "HP_0000505", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Generalized hypotonia", "diseaseFromSourceId": "C1858120", "diseaseFromSourceMappedId": "HP_0001290", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["risk factor"], "confidence": "no assertion criteria provided", "literature": ["10484774", "11313753", "11448935", "12805114", "14755733", "14756671", "14985389", "15521976"], "studyId": "RCV000010057", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000112592", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["Hereditary late onset Parkinson disease", "PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO", "Parkinson disease, late-onset", "Parkinson's disease", "Susceptibility to Parkinson's Disease"], "diseaseFromSource": "Parkinson disease, late-onset", "diseaseFromSourceId": "C3160718", "diseaseFromSourceMappedId": "Orphanet_411602", "variantHgvsId": "NC_000006.12:g.170561908CAR[(49_?)]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["risk factor"], "confidence": "no assertion criteria provided", "literature": ["10484774", "11313753", "11448935", "12805114", "14755733", "14756671", "14985389", "15521976"], "studyId": "RCV000010057", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000112592", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["Hereditary late onset Parkinson disease", "PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO", "Parkinson disease, late-onset", "Parkinson's disease", "Susceptibility to Parkinson's Disease"], "diseaseFromSource": "Parkinson disease, late-onset", "diseaseFromSourceId": "C3160718", "diseaseFromSourceMappedId": "MONDO_0005180", "variantHgvsId": "NC_000006.12:g.170561908CAR[(49_?)]"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV000132814", "releaseDate": "2014-08-17", "targetFromSourceId": "ENSG00000169057", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "X_154029506_A_C", "variantRsId": "rs187614438", "cohortPhenotypes": ["Austism susceptibility, X-linked", "Autism susceptibility, X-linked 3", "Autism, susceptibility to, X-linked 3"], "diseaseFromSource": "Autism, susceptibility to, X-linked 3", "diseaseFromSourceId": "C1845336", "diseaseFromSourceMappedId": "EFO_0003758", "variantHgvsId": "NC_000023.11:g.154029506A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000268693", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000109132", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "4_41745613_G_A", "variantRsId": "rs186778106", "cohortPhenotypes": ["Neuroblastoma 2", "Neuroblastoma, susceptibility to, 2"], "diseaseFromSource": "Neuroblastoma, susceptibility to, 2", "diseaseFromSourceId": "C2751682", "diseaseFromSourceMappedId": "EFO_0000621", "variantHgvsId": "NC_000004.12:g.41745613G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000276459", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000038427", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_83582037_T_C", "variantRsId": "rs10233", "cohortPhenotypes": ["Hyaloideoretinal degeneration of Wagner", "VCAN-Related Vitreoretinopathy", "WAGNER VITREORETINOPATHY", "Wagner disease", "Wagner disease (formerly)", "Wagner syndrome", "Wagner syndrome type 1", "Wagner vitreoretinal degeneration"], "diseaseFromSource": "Wagner syndrome", "diseaseFromSourceId": "C1840452", "diseaseFromSourceMappedId": "MONDO_0007740", "variantHgvsId": "NC_000005.10:g.83582037T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339133", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000105983", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_156682634_A_C", "variantRsId": "rs17837687", "cohortPhenotypes": ["POLYDACTYLY OF TRIPHALANGEAL THUMB", "Polydactyly of a triphalangeal thumb", "Polydactyly, preaxial II", "TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME"], "diseaseFromSource": "Polydactyly of a triphalangeal thumb", "diseaseFromSourceId": "C1868114", "diseaseFromSourceMappedId": "MONDO_0008270", "variantHgvsId": "NC_000007.14:g.156682634A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339133", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000105983", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_156682634_A_C", "variantRsId": "rs17837687", "cohortPhenotypes": ["POLYDACTYLY OF TRIPHALANGEAL THUMB", "Polydactyly of a triphalangeal thumb", "Polydactyly, preaxial II", "TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME"], "diseaseFromSource": "Polydactyly of a triphalangeal thumb", "diseaseFromSourceId": "C1868114", "diseaseFromSourceMappedId": "Orphanet_294939", "variantHgvsId": "NC_000007.14:g.156682634A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000340578", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000124299", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "19_33387291_G_A", "variantRsId": "rs77690463", "cohortPhenotypes": ["Prolidase deficiency"], "diseaseFromSource": "Prolidase deficiency", "diseaseFromSourceId": "C0268532", "diseaseFromSourceMappedId": "MONDO_0008221", "variantHgvsId": "NC_000019.10:g.33387291G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000344754", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000122863", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "10_72011189_G_A", "variantRsId": "rs115489836", "cohortPhenotypes": ["Bilateral dislocation of the knees, pes cavus, cylindrically shaped fingers and characteristic facies", "Larsen syndrome", "Larsen syndrome, dominant type"], "diseaseFromSource": "Larsen syndrome", "diseaseFromSourceId": "C0175778", "diseaseFromSourceMappedId": "Orphanet_503", "variantHgvsId": "NC_000010.11:g.72011189G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000350350", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000148606", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "10_77976135_CT_C", "variantRsId": "rs56144624", "cohortPhenotypes": ["Pol III-Related Leukodystrophies", "Pol III-related leukodystrophy"], "diseaseFromSource": "Pol III-related leukodystrophy", "diseaseFromSourceId": "C5679947", "diseaseFromSourceMappedId": "Orphanet_289494", "variantHgvsId": "NC_000010.11:g.77976147del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000368442", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000165102", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_43201827_A_G", "variantRsId": "rs78930544", "cohortPhenotypes": ["Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency", "MPS 3C", "MPS III C", "MUCOPOLYSACCHARIDOSIS, TYPE IIIC", "Mucopoly-saccharidosis type 3C", "Mucopolysaccharidosis type IIIC (Sanfilippo C)", "Mucopolysaccharidosis, MPS-III-C", "Sanfilippo syndrome C"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-III-C", "diseaseFromSourceId": "C0086649", "diseaseFromSourceMappedId": "MONDO_0009657", "variantHgvsId": "NC_000008.11:g.43201827A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000373515", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000213281", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "1_114705630_T_C", "variantRsId": "rs140878667", "cohortPhenotypes": ["NRAS gene related Noonan syndrome", "Noonan syndrome 6"], "diseaseFromSource": "Noonan syndrome 6", "diseaseFromSourceId": "C2750732", "diseaseFromSourceMappedId": "MONDO_0018997", "variantHgvsId": "NC_000001.11:g.114705630T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000376102", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000174804", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "11_86955347_G_A", "variantRsId": "rs568903306", "cohortPhenotypes": ["Criswick-Schepens syndrome", "Exudative vitreoretinopathy 1", "FEVR, AUTOSOMAL DOMINANT", "Familial exudative vitreoretinopathy, autosomal dominant"], "diseaseFromSource": "Exudative vitreoretinopathy 1", "diseaseFromSourceId": "C1851402", "diseaseFromSourceMappedId": "Orphanet_891", "variantHgvsId": "NC_000011.10:g.86955347G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000402145", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000034693", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "6_143450846_T_C", "variantRsId": "rs184934783", "cohortPhenotypes": ["Peroxisome biogenesis disorder 10A", "Peroxisome biogenesis disorder 10A (Zellweger)"], "diseaseFromSource": "Peroxisome biogenesis disorder 10A (Zellweger)", "diseaseFromSourceId": "C3553999", "diseaseFromSourceMappedId": "Orphanet_912", "variantHgvsId": "NC_000006.12:g.143450846T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000407201", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100299", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "22_50628124_C_G", "variantRsId": "rs6151406", "cohortPhenotypes": ["Arylsulfatase A Deficiency", "Cerebral sclerosis diffuse metachromatic form", "Cerebroside sulfatase deficiency", "Metachromatic leukodystrophy", "Metachromatic leukoencephalopathy", "Sulfatide lipidosis"], "diseaseFromSource": "Metachromatic leukodystrophy", "diseaseFromSourceId": "C0023522", "diseaseFromSourceMappedId": "MONDO_0018868", "variantHgvsId": "NC_000022.11:g.50628124C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000583774", "releaseDate": "2018-02-19", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "11_108294920_C_CTTTTAGTTACATTTACATTTTAGTTAA", "variantRsId": "rs1555101604", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000011.10:g.108294921_108294926T[4]AGTTACATTTACATTTTAGTTAATTTTAG[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000623514", "releaseDate": "2018-04-15", "targetFromSourceId": "ENSG00000120868", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_98699486_G_C", "variantRsId": "rs181546874", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000012.12:g.98699486G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001974720", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000116127", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_73385925_G_GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAA", "variantRsId": "rs2104057327", "cohortPhenotypes": ["Alstrom syndrome", "Alstrom's syndrome"], "diseaseFromSource": "Alstrom syndrome", "diseaseFromSourceId": "C0268425", "diseaseFromSourceMappedId": "MONDO_0008763", "variantHgvsId": "NC_000002.12:g.73385926_73385942GAG[9]GAAGAGGAGGAGGAGGAGGA[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002010659", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000116127", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_73572934_A_G", "variantRsId": "rs912853018", "cohortPhenotypes": ["Alstrom syndrome", "Alstrom's syndrome"], "diseaseFromSource": "Alstrom syndrome", "diseaseFromSourceId": "C0268425", "diseaseFromSourceMappedId": "MONDO_0008763", "variantHgvsId": "NC_000002.12:g.73572934A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002021484", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000124587", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "6_42978265_C_T", "variantRsId": "rs756846884", "cohortPhenotypes": ["ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL", "ALD: Adrenoleukodystrophy, X-Linked", "INFANTILE PHYTANIC ACID STORAGE DISEASE", "PEROXISOME BIOGENESIS DISORDER (NALD/IRD)", "PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)", "Peroxisome biogenesis disorder", "Peroxisome biogenesis disorders, Zellweger syndrome spectrum"], "diseaseFromSource": "Peroxisome biogenesis disorder", "diseaseFromSourceId": "C1832200", "diseaseFromSourceMappedId": "Orphanet_79189", "variantHgvsId": "NC_000006.12:g.42978265C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002036119", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000104419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_133244386_G_A", "variantRsId": "rs761760894", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 4", "Charcot-Marie-Tooth, Type 4"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4", "diseaseFromSourceId": "C4082197", "diseaseFromSourceMappedId": "MONDO_0018995", "variantHgvsId": "NC_000008.11:g.133244386G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002038242", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000164751", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_76983931_A_G", "variantRsId": "rs1806923661", "cohortPhenotypes": ["Peroxisome biogenesis disorder 5A (Zellweger)"], "diseaseFromSource": "Peroxisome biogenesis disorder 5A (Zellweger)", "diseaseFromSourceId": "C3553940", "diseaseFromSourceMappedId": "Orphanet_912", "variantHgvsId": "NC_000008.11:g.76983931A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002046656", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000011143", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_58214379_C_A", "variantRsId": "rs527350238", "cohortPhenotypes": ["CEREBELLOPARENCHYMAL DISORDER IV", "Cerebelloparenchymal disorder 4", "DYSENCEPHALIA SPLANCHNOCYSTICA", "Dysencephalia splachnocystica", "Familial aplasia of the vermis", "Gruber syndrome", "Joubert syndrome", "Joubert-Boltshauser syndrome", "Meckel-Gruber syndrome"], "diseaseFromSource": "Familial aplasia of the vermis", "diseaseFromSourceId": "C0431399", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000017.11:g.58214379C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002046656", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000011143", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_58214379_C_A", "variantRsId": "rs527350238", "cohortPhenotypes": ["CEREBELLOPARENCHYMAL DISORDER IV", "Cerebelloparenchymal disorder 4", "DYSENCEPHALIA SPLANCHNOCYSTICA", "Dysencephalia splachnocystica", "Familial aplasia of the vermis", "Gruber syndrome", "Joubert syndrome", "Joubert-Boltshauser syndrome", "Meckel-Gruber syndrome"], "diseaseFromSource": "Meckel-Gruber syndrome", "diseaseFromSourceId": "C0265215", "diseaseFromSourceMappedId": "MONDO_0018921", "variantHgvsId": "NC_000017.11:g.58214379C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002048325", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000159082", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "21_32650238_T_G", "variantRsId": "rs1370000213", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 53", "Early-onset Parkinson disease 20", "Epileptic encephalopathy, early infantile, 53"], "diseaseFromSource": "Early-onset Parkinson disease 20", "diseaseFromSourceId": "C3809824", "variantHgvsId": "NC_000021.9:g.32650238T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002048325", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000159082", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "21_32650238_T_G", "variantRsId": "rs1370000213", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 53", "Early-onset Parkinson disease 20", "Epileptic encephalopathy, early infantile, 53"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 53", "diseaseFromSourceId": "C4479313", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000021.9:g.32650238T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002210914", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000143382", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "1_150554470_G_A", "variantRsId": "rs1318676781", "cohortPhenotypes": ["ECTOPIA LENTIS WITH ECTOPIA OF PUPIL", "Ectopia lentis 2, isolated, autosomal recessive", "Ectopia lentis et pupillae", "Ectopia lentis, isolated autosomal recessive"], "diseaseFromSource": "Ectopia lentis 2, isolated, autosomal recessive", "diseaseFromSourceId": "C3541474", "diseaseFromSourceMappedId": "MONDO_0015998", "variantHgvsId": "NC_000001.11:g.150554470G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002210914", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000143382", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "1_150554470_G_A", "variantRsId": "rs1318676781", "cohortPhenotypes": ["ECTOPIA LENTIS WITH ECTOPIA OF PUPIL", "Ectopia lentis 2, isolated, autosomal recessive", "Ectopia lentis et pupillae", "Ectopia lentis, isolated autosomal recessive"], "diseaseFromSource": "Ectopia lentis 2, isolated, autosomal recessive", "diseaseFromSourceId": "C3541474", "diseaseFromSourceMappedId": "Orphanet_1885", "variantHgvsId": "NC_000001.11:g.150554470G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002244130", "releaseDate": "2022-05-21", "targetFromSourceId": "ENSG00000164692", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "7_94418537_CA_C", "variantRsId": "rs2115924490", "cohortPhenotypes": ["EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT", "Ehlers-danlos syndrome, arthrochalasia type, 2"], "diseaseFromSource": "Ehlers-danlos syndrome, arthrochalasia type, 2", "diseaseFromSourceId": "CN293783", "diseaseFromSourceMappedId": "Orphanet_1899", "variantHgvsId": "NC_000007.14:g.94418538del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002244189", "releaseDate": "2022-05-21", "targetFromSourceId": "ENSG00000188994", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_87254902_C_T", "variantRsId": "rs2127856543", "cohortPhenotypes": ["Intellectual developmental disorder, autosomal dominant 64", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 64"], "diseaseFromSource": "Intellectual developmental disorder, autosomal dominant 64", "diseaseFromSourceId": "C5543067", "variantHgvsId": "NC_000006.12:g.87254902C>T"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002246062", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001906", "variantRsId": "rs2141229796", "cohortPhenotypes": ["MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome"], "diseaseFromSource": "Marfan syndrome", "diseaseFromSourceId": "C0024796", "diseaseFromSourceMappedId": "MONDO_0007947", "variantHgvsId": "NC_000015.10:g.48428344_48428355del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["30267408"], "studyId": "RCV002248369", "releaseDate": "2022-05-28", "targetFromSourceId": "ENSG00000144191", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_98396402_CAG_C", "variantRsId": "rs1692914478", "cohortPhenotypes": ["Achromatopsia 2", "Colorblindness, total", "Rod monochromacy 2", "Rod monochromatism 2"], "diseaseFromSource": "Achromatopsia 2", "diseaseFromSourceId": "C1857618", "diseaseFromSourceMappedId": "MONDO_0018852", "variantHgvsId": "NC_000002.12:g.98396403AG[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV002250420", "releaseDate": "2022-05-28", "targetFromSourceId": "ENSG00000135100", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_120999579_AGCATCCAGCACCT_GGCATCCAGCACC", "variantRsId": "rs587778399", "cohortPhenotypes": ["Monogenic diabetes"], "diseaseFromSource": "Monogenic diabetes", "diseaseFromSourceId": "C3888631", "diseaseFromSourceMappedId": "EFO_1001511", "variantHgvsId": "NC_000012.12:g.120999579_120999592delinsGGCATCCAGCACC"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002259194", "releaseDate": "2022-06-24", "targetFromSourceId": "ENSG00000134574", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "11_47234569_C_G", "variantRsId": "rs2135511675", "cohortPhenotypes": ["Xeroderma pigmentosa", "Xeroderma pigmentosum"], "diseaseFromSource": "Xeroderma pigmentosum", "diseaseFromSourceId": "C0043346", "diseaseFromSourceMappedId": "MONDO_0019600", "variantHgvsId": "NC_000011.10:g.47234569C>G"} +{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002259428", "releaseDate": "2022-07-01", "targetFromSourceId": "ENSG00000003393", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_201761647_C_T", "variantRsId": "rs2106089689", "cohortPhenotypes": ["Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis", "Infantile-onset ascending hereditary spastic paralysis", "Spastic paralysis, infantile onset ascending"], "diseaseFromSource": "Infantile-onset ascending hereditary spastic paralysis", "diseaseFromSourceId": "C2931441", "diseaseFromSourceMappedId": "MONDO_0011797", "variantHgvsId": "NC_000002.12:g.201761647C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000308394", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "2_166196010_C_T", "variantRsId": "rs149873320", "cohortPhenotypes": ["PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING", "Paroxysmal extreme pain disorder", "RECTAL PAIN, FAMILIAL"], "diseaseFromSource": "Paroxysmal extreme pain disorder", "diseaseFromSourceId": "C1833661", "diseaseFromSourceMappedId": "MONDO_0008179", "variantHgvsId": "NC_000002.12:g.166196010C>T"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000669395", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000042781", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_216321926_T_C", "variantRsId": "rs570446209", "cohortPhenotypes": ["RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF", "Retinitis pigmentosa 39", "USHER SYNDROME, TYPE IIA", "Usher syndrome type 2A"], "diseaseFromSource": "Usher syndrome type 2A", "diseaseFromSourceId": "C1848634", "diseaseFromSourceMappedId": "MONDO_0010169", "variantHgvsId": "NC_000001.11:g.216321926T>C"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000669395", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000042781", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_216321926_T_C", "variantRsId": "rs570446209", "cohortPhenotypes": ["RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF", "Retinitis pigmentosa 39", "USHER SYNDROME, TYPE IIA", "Usher syndrome type 2A"], "diseaseFromSource": "Retinitis pigmentosa 39", "diseaseFromSourceId": "C3151138", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000001.11:g.216321926T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001134935", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "2_166375738_C_A", "variantRsId": "rs569406301", "cohortPhenotypes": ["PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING", "Paroxysmal extreme pain disorder", "RECTAL PAIN, FAMILIAL"], "diseaseFromSource": "Paroxysmal extreme pain disorder", "diseaseFromSourceId": "C1833661", "diseaseFromSourceMappedId": "MONDO_0008179", "variantHgvsId": "NC_000002.12:g.166375738C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000533620", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000175920", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "4_3492937_A_AC", "variantRsId": "rs794727884", "cohortPhenotypes": ["Congenital myasthenic syndrome 10", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "Myasthenia, limb-girdle, familial", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Fetal akinesia deformation sequence 1", "diseaseFromSourceId": "C1276035", "diseaseFromSourceMappedId": "Orphanet_994", "variantHgvsId": "NC_000004.12:g.3492943dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000533620", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000175920", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "4_3492937_A_AC", "variantRsId": "rs794727884", "cohortPhenotypes": ["Congenital myasthenic syndrome 10", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "Myasthenia, limb-girdle, familial", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Congenital myasthenic syndrome 10", "diseaseFromSourceId": "C1850792", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000004.12:g.3492943dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000193627", "releaseDate": "2015-10-05", "targetFromSourceId": "ENSG00000171100", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "X_150657853_C_CA", "variantRsId": "rs587783752", "cohortPhenotypes": ["MYOTUBULAR MYOPATHY 1", "Myotubular myopathy, X-linked", "Severe X-linked myotubular myopathy", "X-linked centronuclear myopathy"], "diseaseFromSource": "Severe X-linked myotubular myopathy", "diseaseFromSourceId": "C0410203", "diseaseFromSourceMappedId": "MONDO_0010683", "variantHgvsId": "NC_000023.11:g.150657856dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339812", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000017427", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "12_102399107_A_ATG", "variantRsId": "rs3032446", "cohortPhenotypes": ["Growth delay due to insulin-like growth factor type 1 deficiency", "Growth retardation with sensorineural deafness and mental retardation", "IGF1 deficiency", "Insulin-like growth factor I deficiency"], "diseaseFromSource": "Growth delay due to insulin-like growth factor type 1 deficiency", "diseaseFromSourceId": "C1837475", "diseaseFromSourceMappedId": "MONDO_0012110", "variantHgvsId": "NC_000012.12:g.102399109GT[20]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339812", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000017427", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "12_102399107_A_ATG", "variantRsId": "rs3032446", "cohortPhenotypes": ["Growth delay due to insulin-like growth factor type 1 deficiency", "Growth retardation with sensorineural deafness and mental retardation", "IGF1 deficiency", "Insulin-like growth factor I deficiency"], "diseaseFromSource": "Growth delay due to insulin-like growth factor type 1 deficiency", "diseaseFromSourceId": "C1837475", "diseaseFromSourceMappedId": "Orphanet_73272", "variantHgvsId": "NC_000012.12:g.102399109GT[20]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000365593", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "14_95086682_T_C", "variantRsId": "rs765598296", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome", "DICER1-related tumor predisposition"], "diseaseFromSource": "DICER1-related tumor predisposition", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95086682T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000792169", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_43092250_T_C", "variantRsId": "rs1597864637", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.43092250T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000792169", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_43092250_T_C", "variantRsId": "rs1597864637", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "MONDO_0003582", "variantHgvsId": "NC_000017.11:g.43092250T>C"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001801320", "releaseDate": "2022-01-03", "targetFromSourceId": "ENSG00000115718", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_127428543_G_A", "variantRsId": "rs1688677671", "cohortPhenotypes": ["PROC DEFICIENCY, AUTOSOMAL DOMINANT", "PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT", "Thrombophilia due to protein C deficiency, autosomal dominant", "Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant"], "diseaseFromSource": "Thrombophilia due to protein C deficiency, autosomal dominant", "diseaseFromSourceId": "C2674321", "diseaseFromSourceMappedId": "MONDO_0019145", "variantHgvsId": "NC_000002.12:g.127428543G>A"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001801320", "releaseDate": "2022-01-03", "targetFromSourceId": "ENSG00000115718", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_127428543_G_A", "variantRsId": "rs1688677671", "cohortPhenotypes": ["PROC DEFICIENCY, AUTOSOMAL DOMINANT", "PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT", "Thrombophilia due to protein C deficiency, autosomal dominant", "Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant"], "diseaseFromSource": "Thrombophilia due to protein C deficiency, autosomal dominant", "diseaseFromSourceId": "C2674321", "diseaseFromSourceMappedId": "Orphanet_745", "variantHgvsId": "NC_000002.12:g.127428543G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV000499352", "releaseDate": "2017-10-27", "targetFromSourceId": "ENSG00000091262", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive inherited pseudoxanthoma elasticum", "Gronblad Strandberg syndrome"], "diseaseFromSource": "Autosomal recessive inherited pseudoxanthoma elasticum", "diseaseFromSourceId": "C1275116", "variantHgvsId": "NC_000016.10:g.16151250_16167657del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002256832", "releaseDate": "2022-06-24", "targetFromSourceId": "ENSG00000113318", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_80654908_G_GCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCC", "variantRsId": "rs60484572", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000005.10:g.80654913GCCCCCAGC[6]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002256832", "releaseDate": "2022-06-24", "targetFromSourceId": "ENSG00000228716", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_80654908_G_GCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCC", "variantRsId": "rs60484572", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000005.10:g.80654913GCCCCCAGC[6]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002258495", "releaseDate": "2022-06-24", "targetFromSourceId": "ENSG00000091483", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "1_241500602_T_TGAGAGAGAGAGAGAGAGAGA", "variantRsId": "rs144131869", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000001.11:g.241500603GA[29]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["24747641"], "studyId": "RCV000128459", "releaseDate": "2014-07-06", "targetFromSourceId": "ENSG00000164588", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_45695795_G_A", "variantRsId": "rs587777492", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 24", "Epileptic encephalopathy, early infantile, 24"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 24", "diseaseFromSourceId": "C4014531", "diseaseFromSourceMappedId": "MONDO_0018614", "variantHgvsId": "NC_000005.10:g.45695795G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["24747641"], "studyId": "RCV000128459", "releaseDate": "2014-07-06", "targetFromSourceId": "ENSG00000164588", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_45695795_G_A", "variantRsId": "rs587777492", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 24", "Epileptic encephalopathy, early infantile, 24"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 24", "diseaseFromSourceId": "C4014531", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000005.10:g.45695795G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV000411534", "releaseDate": "2017-01-07", "targetFromSourceId": "ENSG00000072778", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "17_7224245_T_C", "variantRsId": "rs111851815", "cohortPhenotypes": ["VLCAD deficiency", "Very long chain acyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Very long chain acyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C3887523", "diseaseFromSourceMappedId": "MONDO_0008723", "variantHgvsId": "NC_000017.11:g.7224245T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic", "pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000666985", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000141458", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "18_23539922_T_TC", "variantRsId": "rs1555633326", "cohortPhenotypes": ["NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY", "NIEMANN-PICK DISEASE, VARIANT TYPE C1", "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "Niemann-Pick disease with cholesterol esterification block", "Niemann-Pick disease, chronic neuronopathic form", "Niemann-Pick disease, type C1"], "diseaseFromSource": "Niemann-Pick disease, type C1", "diseaseFromSourceId": "C3179455", "diseaseFromSourceMappedId": "MONDO_0018982", "variantHgvsId": "NC_000018.10:g.23539924dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000822426", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000107719", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "10_70600577_G_A", "variantRsId": "rs1589233312", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 2"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 2", "diseaseFromSourceId": "C1863727", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000010.11:g.70600577G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000822426", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000180644", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_70600577_G_A", "variantRsId": "rs1589233312", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 2"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 2", "diseaseFromSourceId": "C1863727", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000010.11:g.70600577G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000932997", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000157540", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "21_37512066_TCACCACCACCAC_T", "variantRsId": "rs760576043", "cohortPhenotypes": ["DYRK1A-related intellectual disability syndrome", "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7"], "diseaseFromSource": "DYRK1A-related intellectual disability syndrome", "diseaseFromSourceId": "C5568143", "diseaseFromSourceMappedId": "MONDO_0013578", "variantHgvsId": "NC_000021.9:g.37512069_37512071CCA[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001044664", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000169710", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_82091018_C_T", "variantRsId": "rs775845460", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000017.11:g.82091018C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001233569", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000198003", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_11423877_G_C", "variantRsId": "rs1361894803", "cohortPhenotypes": ["CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS", "Primary ciliary dyskinesia 30"], "diseaseFromSource": "Primary ciliary dyskinesia 30", "diseaseFromSourceId": "C4015016", "variantHgvsId": "NC_000019.10:g.11423877G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001408293", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000076685", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_103089684_C_T", "variantRsId": "rs893373835", "cohortPhenotypes": ["Hereditary spastic paraplegia 45", "SPASTIC PARAPLEGIA 45", "Spastic paraplegia 45, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 45", "diseaseFromSourceId": "C3888209", "diseaseFromSourceMappedId": "Orphanet_306511", "variantHgvsId": "NC_000010.11:g.103089684C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001408293", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000148842", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "10_103089684_C_T", "variantRsId": "rs893373835", "cohortPhenotypes": ["Hereditary spastic paraplegia 45", "SPASTIC PARAPLEGIA 45", "Spastic paraplegia 45, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 45", "diseaseFromSourceId": "C3888209", "diseaseFromSourceMappedId": "Orphanet_306511", "variantHgvsId": "NC_000010.11:g.103089684C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001908488", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000148384", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "9_136433249_C_CGTGTCCTGCAGACGA", "variantRsId": "rs1835756153", "cohortPhenotypes": ["CEREBELLOPARENCHYMAL DISORDER IV", "Cerebelloparenchymal disorder 4", "Familial aplasia of the vermis", "Joubert syndrome", "Joubert-Boltshauser syndrome"], "diseaseFromSource": "Familial aplasia of the vermis", "diseaseFromSourceId": "C0431399", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000009.12:g.136433250_136433251GT[2]CCTGCAGACGAGT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002107226", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000081014", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_51001053_T_C", "variantRsId": "rs778926865", "cohortPhenotypes": ["Spastic paraplegia"], "diseaseFromSource": "Spastic paraplegia", "diseaseFromSourceId": "C0037772", "diseaseFromSourceMappedId": "HP_0001258", "variantHgvsId": "NC_000015.10:g.51001053T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002111971", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000142627", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_16135152_C_A", "variantRsId": "rs140392218", "cohortPhenotypes": ["CATARACT 6, CONGENITAL TOTAL", "CATARACT 6, POSTERIOR POLAR", "CATARACT, AGE-RELATED CORTICAL, 2", "Cataract 6 multiple types", "Cataract, posterior polar, 1"], "diseaseFromSource": "Cataract 6 multiple types", "diseaseFromSourceId": "C1861825", "variantHgvsId": "NC_000001.11:g.16135152C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002150054", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000092929", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_75843455_TCTCTGCACCCCAGCA_T", "variantRsId": "rs2064964147", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 3"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 3", "diseaseFromSourceId": "C1837174", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000017.11:g.75843461_75843475del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002219838", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000111262", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_4911867_G_A", "variantRsId": "rs1947354000", "cohortPhenotypes": ["ATAXIA, EPISODIC, WITH MYOKYMIA", "Episodic ataxia type 1", "MYOKYMIA WITH PERIODIC ATAXIA", "PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY"], "diseaseFromSource": "Episodic ataxia type 1", "diseaseFromSourceId": "C1719788", "diseaseFromSourceMappedId": "MONDO_0008047", "variantHgvsId": "NC_000012.12:g.4911867G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic", "pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "literature": ["3170546"], "studyId": "RCV000000176", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000065154", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_124405545_C_G", "variantRsId": "rs121965040", "cohortPhenotypes": ["Girate atrophy of the retina", "Gyrate atrophy", "Gyrate atrophy of choroid and retina", "Hyperornithinemia with gyrate atrophy of choroid and retina", "OAT deficiency", "OKT deficiency", "Ornithine aminotransferase deficiency", "Ornithine ketoacid aminotransferase deficiency"], "diseaseFromSource": "Ornithine aminotransferase deficiency", "diseaseFromSourceId": "C0018425", "diseaseFromSourceMappedId": "Orphanet_414", "variantHgvsId": "NC_000010.11:g.124405545C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["11468277", "12529855"], "studyId": "RCV000005133", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183770", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "3_138945918_C_CG", "variantRsId": "rs797044528", "cohortPhenotypes": ["BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I", "BPES I", "BPES type 1", "BPES with ovarian failure", "BPES with premature ovarian failure", "Blepharophimosis syndrome type 1", "Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1", "Blepharophimosis, ptosis, epicanthus inversus type 1", "Blepharophimosis, ptosis, epicanthus inversus with ovarian failure"], "diseaseFromSource": "BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I", "diseaseFromSourceId": "C2931135", "diseaseFromSourceMappedId": "Orphanet_126", "variantHgvsId": "NC_000003.12:g.138945919dupG"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["11297544", "1684223", "23847139", "8202715"], "studyId": "RCV000014051", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000112619", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_42721781_A_G", "variantRsId": "rs121918563", "cohortPhenotypes": ["Retinitis pigmentosa 7, digenic"], "diseaseFromSource": "Retinitis pigmentosa 7, digenic", "diseaseFromSourceId": "C2675552", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000006.12:g.42721781A>G"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no classification provided", "studyId": "RCV000056017", "releaseDate": "2013-10-02", "targetFromSourceId": "ENSG00000115155", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_26480987_TG_T", "variantRsId": "rs397515583", "cohortPhenotypes": ["AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, TEMPERATURE-SENSITIVE", "Autosomal recessive nonsyndromic hearing loss 9", "Deafness, autosomal recessive 9", "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9", "OTOF-Related Deafness"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 9", "diseaseFromSourceId": "C1832828", "diseaseFromSourceMappedId": "MONDO_0010986", "variantHgvsId": "NC_000002.12:g.26480990del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no classification provided", "studyId": "RCV000056017", "releaseDate": "2013-10-02", "targetFromSourceId": "ENSG00000115155", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_26480987_TG_T", "variantRsId": "rs397515583", "cohortPhenotypes": ["AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, TEMPERATURE-SENSITIVE", "Autosomal recessive nonsyndromic hearing loss 9", "Deafness, autosomal recessive 9", "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9", "OTOF-Related Deafness"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 9", "diseaseFromSourceId": "C1832828", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000002.12:g.26480990del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000163218", "releaseDate": "2015-03-24", "targetFromSourceId": "ENSG00000183765", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "22_28695212_A_G", "variantRsId": "rs373864492", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000022.11:g.28695212A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000372271", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "16_2077592_C_T", "variantRsId": "rs528706539", "cohortPhenotypes": ["Tuberous sclerosis", "Tuberous sclerosis syndrome"], "diseaseFromSource": "Tuberous sclerosis syndrome", "diseaseFromSourceId": "C0041341", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2077592C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting classifications", "studyId": "RCV000392856", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000197102", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "14_102034137_T_C", "variantRsId": "rs763119040", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O", "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O", "Charcot-Marie-Tooth Neuropathy Type 2O", "Charcot-Marie-Tooth disease axonal type 2O", "Charcot-Marie-Tooth disease, axonal, type 20"], "diseaseFromSource": "Charcot-Marie-Tooth disease axonal type 2O", "diseaseFromSourceId": "C3280220", "diseaseFromSourceMappedId": "MONDO_0013644", "variantHgvsId": "NC_000014.9:g.102034137T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000454126", "releaseDate": "2017-04-03", "targetFromSourceId": "ENSG00000107736", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_71617296_C_T", "variantRsId": "rs778251205", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 12", "Deafness, autosomal recessive 12"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 12", "diseaseFromSourceId": "C1832394", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000010.11:g.71617296C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000475349", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "14_95099771_C_CACACACACACACACAA", "variantRsId": "rs763704682", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome", "DICER1-related tumor predisposition"], "diseaseFromSource": "DICER1-related tumor predisposition", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95099772AC[7]AAA[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000488607", "releaseDate": "2017-05-14", "targetFromSourceId": "ENSG00000204217", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Pulmonary hypertension, primary, 1"], "diseaseFromSource": "Pulmonary hypertension, primary, 1", "diseaseFromSourceId": "C4552070", "diseaseFromSourceMappedId": "EFO_0001361", "variantHgvsId": "NC_000002.12:g.202377525_202519014del141490"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000504821", "releaseDate": "2017-09-09", "targetFromSourceId": "ENSG00000188452", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_181604002_G_T", "variantRsId": "rs569826109", "cohortPhenotypes": ["Retinal dystrophy"], "diseaseFromSource": "Retinal dystrophy", "diseaseFromSourceId": "C0854723", "diseaseFromSourceMappedId": "Orphanet_71862", "variantHgvsId": "NC_000002.12:g.181604002G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000556753", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "14_95099771_C_CACACACACACACAA", "variantRsId": "rs763704682", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome", "DICER1-related tumor predisposition"], "diseaseFromSource": "DICER1-related tumor predisposition", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95099772AC[6]AAA[1]"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000667149", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000125124", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "16_56485590_C_CCCGCAGACGACCTGCT", "variantRsId": "rs1555520212", "cohortPhenotypes": ["Bardet-Biedl syndrome 2"], "diseaseFromSource": "Bardet-Biedl syndrome 2", "diseaseFromSourceId": "C2936863", "diseaseFromSourceMappedId": "MONDO_0015229", "variantHgvsId": "NC_000016.10:g.56485592_56485607dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000701262", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000039068", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_68823467_C_A", "variantRsId": "rs1490366214", "cohortPhenotypes": ["Hereditary diffuse gastric adenocarcinoma", "Hereditary diffuse gastric cancer"], "diseaseFromSource": "Hereditary diffuse gastric adenocarcinoma", "diseaseFromSourceId": "C1708349", "diseaseFromSourceMappedId": "MONDO_0007648", "variantHgvsId": "NC_000016.10:g.68823467C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000701262", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000039068", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_68823467_C_A", "variantRsId": "rs1490366214", "cohortPhenotypes": ["Hereditary diffuse gastric adenocarcinoma", "Hereditary diffuse gastric cancer"], "diseaseFromSource": "Hereditary diffuse gastric adenocarcinoma", "diseaseFromSourceId": "C1708349", "diseaseFromSourceMappedId": "Orphanet_26106", "variantHgvsId": "NC_000016.10:g.68823467C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000705609", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000183337", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_40075123_T_A", "variantRsId": "rs61744882", "cohortPhenotypes": ["Microphthalmia cataracts radiculomegaly and septal heart defects", "Oculofaciocardiodental syndrome"], "diseaseFromSource": "Oculofaciocardiodental syndrome", "diseaseFromSourceId": "C1846265", "diseaseFromSourceMappedId": "MONDO_0010261", "variantHgvsId": "NC_000023.11:g.40075123T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000802373", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000120071", "variantFunctionalConsequenceId": "SO_0001787", "variantId": "17_46170849_ACTC_A", "variantRsId": "rs1597870189", "cohortPhenotypes": ["KANSL1-Related Intellectual Disability Syndrome", "Koolen-de Vries syndrome"], "diseaseFromSource": "Koolen-de Vries syndrome", "diseaseFromSourceId": "C1864871", "diseaseFromSourceMappedId": "MONDO_0012496", "variantHgvsId": "NC_000017.11:g.46170850_46170852del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000809549", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000100150", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_31879595_G_C", "variantRsId": "rs1602677998", "cohortPhenotypes": ["Familial focal epilepsy with variable foci"], "diseaseFromSource": "Familial focal epilepsy with variable foci", "diseaseFromSourceId": "C1858477", "diseaseFromSourceMappedId": "MONDO_0020310", "variantHgvsId": "NC_000022.11:g.31879595G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000818650", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000245848", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_33301525_C_A", "variantRsId": "rs1600021258", "cohortPhenotypes": ["AML adult", "Acute granulocytic leukemia", "Acute myelogenous leukemia", "Acute myeloid leukemia", "Acute myeloid leukemia, adult", "Acute non-lymphocytic leukemia", "Leukemia, acute myelogenous, somatic", "Leukemia, acute myeloid, somatic"], "diseaseFromSource": "Acute myeloid leukemia", "diseaseFromSourceId": "C0023467", "diseaseFromSourceMappedId": "EFO_0000222", "variantHgvsId": "NC_000019.10:g.33301525C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000820449", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000169174", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "1_55039879_A_ACTGCTGCTGCTG", "variantRsId": "rs35574083", "cohortPhenotypes": ["Familial Hypercholesterolemia, Autosomal Dominant, 3", "Familial hypercholesterolemia 3", "Hypercholesterolemia, autosomal dominant, 3"], "diseaseFromSource": "Hypercholesterolemia, autosomal dominant, 3", "diseaseFromSourceId": "C1863551", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000001.11:g.55039882GCT[11]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000880956", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000092621", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_119723381_C_G", "variantRsId": "rs182600362", "cohortPhenotypes": ["PHGDH deficiency", "Phosphoglycerate dehydrogenase deficiency"], "diseaseFromSource": "PHGDH deficiency", "diseaseFromSourceId": "C1866174", "diseaseFromSourceMappedId": "MONDO_0011152", "variantHgvsId": "NC_000001.11:g.119723381C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000880956", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000092621", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_119723381_C_G", "variantRsId": "rs182600362", "cohortPhenotypes": ["PHGDH deficiency", "Phosphoglycerate dehydrogenase deficiency"], "diseaseFromSource": "PHGDH deficiency", "diseaseFromSourceId": "C1866174", "diseaseFromSourceMappedId": "Orphanet_79351", "variantHgvsId": "NC_000001.11:g.119723381C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000890830", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000174990", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_87926844_G_T", "variantRsId": "rs377135599", "cohortPhenotypes": ["Carbonic anhydrase VA deficiency, hyperammonemia due to", "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"], "diseaseFromSource": "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency", "diseaseFromSourceId": "C3810404", "diseaseFromSourceMappedId": "Orphanet_401948", "variantHgvsId": "NC_000016.10:g.87926844G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000890830", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000174990", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_87926844_G_T", "variantRsId": "rs377135599", "cohortPhenotypes": ["Carbonic anhydrase VA deficiency, hyperammonemia due to", "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"], "diseaseFromSource": "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency", "diseaseFromSourceId": "C3810404", "diseaseFromSourceMappedId": "MONDO_0014332", "variantHgvsId": "NC_000016.10:g.87926844G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000892535", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000134516", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_170042099_C_T", "variantRsId": "rs151251345", "cohortPhenotypes": ["DOCK2 deficiency", "Immunodeficiency 40"], "diseaseFromSource": "DOCK2 deficiency", "diseaseFromSourceId": "C4225328", "diseaseFromSourceMappedId": "Orphanet_179006", "variantHgvsId": "NC_000005.10:g.170042099C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000892763", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000172936", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_38140571_T_C", "variantRsId": "rs148149492", "cohortPhenotypes": ["Myd88 deficiency", "PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY", "Pyogenic bacterial infections due to MyD88 deficiency"], "diseaseFromSource": "Pyogenic bacterial infections due to MyD88 deficiency", "diseaseFromSourceId": "C2677092", "diseaseFromSourceMappedId": "Orphanet_183713", "variantHgvsId": "NC_000003.12:g.38140571T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000892763", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000172936", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_38140571_T_C", "variantRsId": "rs148149492", "cohortPhenotypes": ["Myd88 deficiency", "PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY", "Pyogenic bacterial infections due to MyD88 deficiency"], "diseaseFromSource": "Pyogenic bacterial infections due to MyD88 deficiency", "diseaseFromSourceId": "C2677092", "diseaseFromSourceMappedId": "MONDO_0012839", "variantHgvsId": "NC_000003.12:g.38140571T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001036970", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000183454", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_9938137_T_C", "variantRsId": "rs376979811", "cohortPhenotypes": ["APHASIA, ACQUIRED, WITH EPILEPSY", "Acquired aphasia with convulsive disorder", "Acquired epileptiform aphasia", "EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT", "Epilepsy with neurodevelopmental defects", "Landau-Kleffner syndrome"], "diseaseFromSource": "Landau-Kleffner syndrome", "diseaseFromSourceId": "C0282512", "diseaseFromSourceMappedId": "EFO_1001010", "variantHgvsId": "NC_000016.10:g.9938137T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001038401", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000143632", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "1_229432792_A_AT", "variantRsId": "rs1571893878", "cohortPhenotypes": ["Actin accumulation myopathy", "CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT", "Myopathy, actin, congenital, with cores", "Myopathy, actin, congenital, with excess of thin myofilaments", "Nemaline myopathy 3, with intranuclear rods", "Nemaline myopathy caused by mutation in the alpha-actin gene", "Nemaline myopathy type 3"], "diseaseFromSource": "Actin accumulation myopathy", "diseaseFromSourceId": "C3711389", "variantHgvsId": "NC_000001.11:g.229432793dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001044598", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_108281079_T_TC", "variantRsId": "rs2082208208", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108281081dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001050174", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000106462", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_148846484_G_A", "variantRsId": "rs141583753", "cohortPhenotypes": ["Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly", "Weaver Smith syndrome", "Weaver syndrome"], "diseaseFromSource": "Weaver syndrome", "diseaseFromSourceId": "C0265210", "diseaseFromSourceMappedId": "MONDO_0010193", "variantHgvsId": "NC_000007.14:g.148846484G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001052705", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000167286", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_118340537_T_C", "variantRsId": "rs1346172061", "cohortPhenotypes": ["CD3-DELTA DEFICIENCY", "Immunodeficiency 19", "SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE", "SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE"], "diseaseFromSource": "Immunodeficiency 19", "diseaseFromSourceId": "C3810147", "diseaseFromSourceMappedId": "MONDO_0015823", "variantHgvsId": "NC_000011.10:g.118340537T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001062748", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000148384", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_136433223_G_A", "variantRsId": "rs536052523", "cohortPhenotypes": ["CEREBELLOPARENCHYMAL DISORDER IV", "Cerebelloparenchymal disorder 4", "Familial aplasia of the vermis", "Joubert syndrome", "Joubert-Boltshauser syndrome"], "diseaseFromSource": "Familial aplasia of the vermis", "diseaseFromSourceId": "C0431399", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000009.12:g.136433223G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001067011", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000162688", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_99851113_G_C", "variantRsId": "rs772905291", "cohortPhenotypes": ["Amylo-1,6-glucosidase deficiency", "Cori disease", "Forbes disease", "Glycogen debrancher deficiency", "Glycogen storage disease type 3", "Glycogen storage disease type III", "Limit dextrinosis"], "diseaseFromSource": "Glycogen storage disease type III", "diseaseFromSourceId": "C0017922", "diseaseFromSourceMappedId": "MONDO_0009291", "variantHgvsId": "NC_000001.11:g.99851113G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001074281", "releaseDate": "2020-04-18", "targetFromSourceId": "ENSG00000163914", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_129532306_C_A", "variantRsId": "rs765931092", "cohortPhenotypes": ["Retinal dystrophy"], "diseaseFromSource": "Retinal dystrophy", "diseaseFromSourceId": "C0854723", "diseaseFromSourceMappedId": "Orphanet_71862", "variantHgvsId": "NC_000003.12:g.129532306C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001107460", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000110756", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_18295112_A_G", "variantRsId": "rs150590027", "cohortPhenotypes": ["Hermansky-Pudlak syndrome 5"], "diseaseFromSource": "Hermansky-Pudlak syndrome 5", "diseaseFromSourceId": "C3888004", "diseaseFromSourceMappedId": "MONDO_0016502", "variantHgvsId": "NC_000011.10:g.18295112A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001119700", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140326", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_42735170_C_T", "variantRsId": "rs185031946", "cohortPhenotypes": ["Congenital dyserythropoietic anemia, type I", "Dyserythropoietic anemia, congenital type 1"], "diseaseFromSource": "Congenital dyserythropoietic anemia, type I", "diseaseFromSourceId": "C0271933", "diseaseFromSourceMappedId": "Orphanet_98869", "variantHgvsId": "NC_000015.10:g.42735170C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001169811", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000178445", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_6532521_A_C", "variantRsId": "rs999698910", "cohortPhenotypes": ["Glycine encephalopathy", "Non-ketotic hyperglycinemia", "Nonketotic hyperglycinemia"], "diseaseFromSource": "Non-ketotic hyperglycinemia", "diseaseFromSourceId": "C0751748", "diseaseFromSourceMappedId": "MONDO_0011612", "variantHgvsId": "NC_000009.12:g.6532521A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001177962", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000163513", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_30672180_C_G", "variantRsId": "rs1699353812", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "EFO_0009299", "variantHgvsId": "NC_000003.12:g.30672180C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001177962", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000163513", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_30672180_C_G", "variantRsId": "rs1699353812", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "Orphanet_285014", "variantHgvsId": "NC_000003.12:g.30672180C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001178962", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000130164", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_11116156_T_G", "variantRsId": "rs2077459810", "cohortPhenotypes": ["Familial hypercholesterolemia"], "diseaseFromSource": "Familial hypercholesterolemia", "diseaseFromSourceId": "C0020445", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000019.10:g.11116156T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001180540", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000169174", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_55046605_T_C", "variantRsId": "rs748403083", "cohortPhenotypes": ["Familial hypercholesterolemia"], "diseaseFromSource": "Familial hypercholesterolemia", "diseaseFromSourceId": "C0020445", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000001.11:g.55046605T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001203905", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000139174", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_42460008_G_A", "variantRsId": "rs1937743406", "cohortPhenotypes": ["Epilepsy, progressive myoclonic, 1B", "PME", "Progressive myoclonus epilepsy with ataxia"], "diseaseFromSource": "Epilepsy, progressive myoclonic, 1B", "diseaseFromSourceId": "C2676254", "diseaseFromSourceMappedId": "Orphanet_308", "variantHgvsId": "NC_000012.12:g.42460008G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001221204", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000108384", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "17_58720800_G_GT", "variantRsId": "rs2048893092", "cohortPhenotypes": ["Fanconi anemia complementation group O"], "diseaseFromSource": "Fanconi anemia complementation group O", "diseaseFromSourceId": "C3150653", "variantHgvsId": "NC_000017.11:g.58720802dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001257226", "releaseDate": "2020-09-27", "targetFromSourceId": "ENSG00000101306", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_31820482_G_A", "variantRsId": "rs1278523169", "cohortPhenotypes": ["Familial hypertrophic cardiomyopathy 1", "Hypertrophic cardiomyopathy 1", "MYH7-Related Familial Hypertrophic Cardiomyopathy"], "diseaseFromSource": "Hypertrophic cardiomyopathy 1", "diseaseFromSourceId": "C3495498", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000020.11:g.31820482G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001273385", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000150275", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_53866837_G_T", "variantRsId": "rs753725514", "cohortPhenotypes": ["USHER SYNDROME, TYPE IF", "Usher syndrome type 1F"], "diseaseFromSource": "Usher syndrome type 1F", "diseaseFromSourceId": "C1865885", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000010.11:g.53866837G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001279515", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000070061", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "9_108929931_A_G", "variantRsId": "rs768610434", "cohortPhenotypes": ["FD", "Familial dysautonomia", "HSAN 3", "HSAN III", "HSN 3", "Hereditary sensory and autonomic neuropathy 3", "Hereditary sensory neuropathy type 3", "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III", "Riley Day syndrome"], "diseaseFromSource": "Familial dysautonomia", "diseaseFromSourceId": "C0013364", "diseaseFromSourceMappedId": "Orphanet_1764", "variantHgvsId": "NC_000009.12:g.108929931A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001318634", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000064419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_129005130_A_T", "variantRsId": "rs148885407", "cohortPhenotypes": ["Autosomal dominant limb-girdle muscular dystrophy type 1F", "Limb-girdle muscular dystrophy, type 1F", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2"], "diseaseFromSource": "Autosomal dominant limb-girdle muscular dystrophy type 1F", "diseaseFromSourceId": "C1842062", "diseaseFromSourceMappedId": "MONDO_0012034", "variantHgvsId": "NC_000007.14:g.129005130A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001318634", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000064419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_129005130_A_T", "variantRsId": "rs148885407", "cohortPhenotypes": ["Autosomal dominant limb-girdle muscular dystrophy type 1F", "Limb-girdle muscular dystrophy, type 1F", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2"], "diseaseFromSource": "Autosomal dominant limb-girdle muscular dystrophy type 1F", "diseaseFromSourceId": "C1842062", "diseaseFromSourceMappedId": "Orphanet_55595", "variantHgvsId": "NC_000007.14:g.129005130A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001318773", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_32398405_T_A", "variantRsId": "rs2073052295", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32398405T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001318773", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_32398405_T_A", "variantRsId": "rs2073052295", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "MONDO_0003582", "variantHgvsId": "NC_000013.11:g.32398405T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001343159", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000171988", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_63186253_T_C", "variantRsId": "rs1040108326", "cohortPhenotypes": ["Early myoclonic encephalopathy"], "diseaseFromSource": "Early myoclonic encephalopathy", "diseaseFromSourceId": "C0270855", "diseaseFromSourceMappedId": "MONDO_0016022", "variantHgvsId": "NC_000010.11:g.63186253T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001343159", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000171988", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_63186253_T_C", "variantRsId": "rs1040108326", "cohortPhenotypes": ["Early myoclonic encephalopathy"], "diseaseFromSource": "Early myoclonic encephalopathy", "diseaseFromSourceId": "C0270855", "diseaseFromSourceMappedId": "EFO_1001900", "variantHgvsId": "NC_000010.11:g.63186253T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001373139", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_52402628_G_A", "variantRsId": "rs2153226192", "cohortPhenotypes": ["BAP1 tumor predisposition syndrome", "BAP1-related tumor predisposition syndrome", "TUMOR PREDISPOSITION SYNDROME 1", "Tumor predisposition syndrome", "Tumor susceptibility linked to germline BAP1 mutations"], "diseaseFromSource": "BAP1-related tumor predisposition syndrome", "diseaseFromSourceId": "C3280492", "diseaseFromSourceMappedId": "MONDO_0013692", "variantHgvsId": "NC_000003.12:g.52402628G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001373139", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_52402628_G_A", "variantRsId": "rs2153226192", "cohortPhenotypes": ["BAP1 tumor predisposition syndrome", "BAP1-related tumor predisposition syndrome", "TUMOR PREDISPOSITION SYNDROME 1", "Tumor predisposition syndrome", "Tumor susceptibility linked to germline BAP1 mutations"], "diseaseFromSource": "BAP1-related tumor predisposition syndrome", "diseaseFromSourceId": "C3280492", "diseaseFromSourceMappedId": "Orphanet_289539", "variantHgvsId": "NC_000003.12:g.52402628G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["18176953"], "studyId": "RCV000000912", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000120942", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_11285822_C_G", "variantRsId": "rs118203953", "cohortPhenotypes": ["Corneal dystrophy crystalline of Schnyder", "Crystalline corneal dystrophy", "Schnyder corneal dystrophy", "Schnyder crystalline corneal dystrophy"], "diseaseFromSource": "Schnyder crystalline corneal dystrophy", "diseaseFromSourceId": "C0271287", "diseaseFromSourceMappedId": "MONDO_0007374", "variantHgvsId": "NC_000001.11:g.11285822C>G"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["12522561"], "studyId": "RCV000000950", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000169919", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_65964382_C_A", "variantRsId": "rs121918183", "cohortPhenotypes": ["Beta-glucuronidase deficiency", "MPS 7", "MPS VII", "Mucopolysaccharidosis type 7", "Mucopolysaccharidosis type VII", "Sly syndrome"], "diseaseFromSource": "Mucopolysaccharidosis type 7", "diseaseFromSourceId": "C0085132", "diseaseFromSourceMappedId": "MONDO_0009662", "variantHgvsId": "NC_000007.14:g.65964382C>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["12522561"], "studyId": "RCV000000950", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000169919", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_65964382_C_A", "variantRsId": "rs121918183", "cohortPhenotypes": ["Beta-glucuronidase deficiency", "MPS 7", "MPS VII", "Mucopolysaccharidosis type 7", "Mucopolysaccharidosis type VII", "Sly syndrome"], "diseaseFromSource": "Mucopolysaccharidosis type 7", "diseaseFromSourceId": "C0085132", "diseaseFromSourceMappedId": "Orphanet_584", "variantHgvsId": "NC_000007.14:g.65964382C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19344877"], "studyId": "RCV000004650", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000175294", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_66025840_G_GA", "variantRsId": "rs193929390", "cohortPhenotypes": ["CATSPER-Related Male Infertility", "MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE", "Spermatogenic failure 7"], "diseaseFromSource": "Spermatogenic failure 7", "diseaseFromSourceId": "C2751811", "diseaseFromSourceMappedId": "Orphanet_276234", "variantHgvsId": "NC_000011.10:g.66025841dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19344877"], "studyId": "RCV000004650", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000175294", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_66025840_G_GA", "variantRsId": "rs193929390", "cohortPhenotypes": ["CATSPER-Related Male Infertility", "MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE", "Spermatogenic failure 7"], "diseaseFromSource": "Spermatogenic failure 7", "diseaseFromSourceId": "C2751811", "diseaseFromSourceMappedId": "MONDO_0017173", "variantHgvsId": "NC_000011.10:g.66025841dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["11468277", "12529855"], "studyId": "RCV000005133", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183770", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "3_138945918_C_CG", "variantRsId": "rs797044528", "cohortPhenotypes": ["BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I", "BPES I", "BPES type 1", "BPES with ovarian failure", "BPES with premature ovarian failure", "Blepharophimosis syndrome type 1", "Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1", "Blepharophimosis, ptosis, epicanthus inversus type 1", "Blepharophimosis, ptosis, epicanthus inversus with ovarian failure"], "diseaseFromSource": "Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1", "diseaseFromSourceId": "C2931135", "diseaseFromSourceMappedId": "Orphanet_126", "variantHgvsId": "NC_000003.12:g.138945919dupG"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005889", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "MONDO_0009779", "variantHgvsId": "NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005889", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "Orphanet_2733", "variantHgvsId": "NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005890", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "MONDO_0009779", "variantHgvsId": "NC_000013.11:g.94252984_94352299del99316insCTA"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005890", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "Orphanet_2733", "variantHgvsId": "NC_000013.11:g.94252984_94352299del99316insCTA"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["risk factor"], "confidence": "no assertion criteria provided", "literature": ["10484774", "11313753", "11448935", "12805114", "14755733", "14756671", "14985389", "15521976"], "studyId": "RCV000010057", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000112592", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["Hereditary late onset Parkinson disease", "PARKINSON DISEASE, AGE OF ONSET, MODIFIER", "PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO", "Parkinson disease, late-onset", "Parkinson's disease", "Susceptibility to Parkinson's Disease"], "diseaseFromSource": "Parkinson disease, late-onset", "diseaseFromSourceId": "C3160718", "diseaseFromSourceMappedId": "Orphanet_411602", "variantHgvsId": "NC_000006.12:g.170561908CAR[(49_?)]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["risk factor"], "confidence": "no assertion criteria provided", "literature": ["10484774", "11313753", "11448935", "12805114", "14755733", "14756671", "14985389", "15521976"], "studyId": "RCV000010057", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000112592", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["Hereditary late onset Parkinson disease", "PARKINSON DISEASE, AGE OF ONSET, MODIFIER", "PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO", "Parkinson disease, late-onset", "Parkinson's disease", "Susceptibility to Parkinson's Disease"], "diseaseFromSource": "Parkinson disease, late-onset", "diseaseFromSourceId": "C3160718", "diseaseFromSourceMappedId": "MONDO_0005180", "variantHgvsId": "NC_000006.12:g.170561908CAR[(49_?)]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["10208170", "11445641", "1605193", "1675488", "9719368"], "studyId": "RCV000010653", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000102081", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["FMR1-Related Primary Ovarian Insufficiency", "Fragile x premature ovarian failure", "HYPERGONADOTROPIC OVARIAN FAILURE, X-LINKED", "PREMATURE OVARIAN FAILURE, X-LINKED", "Premature ovarian failure 1", "Primary ovarian insufficiency, fragile X-associated"], "diseaseFromSource": "Premature ovarian failure 1", "diseaseFromSourceId": "C4552079", "diseaseFromSourceMappedId": "EFO_0004266", "variantHgvsId": "NM_002024.6:c.-128GGM[55_?]"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["11781684"], "studyId": "RCV000014778", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000198807", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "14_36663232_A_T", "variantRsId": "rs104894467", "cohortPhenotypes": ["HYPODONTIA/OLIGODONTIA 3", "Tooth agenesis, selective, 3"], "diseaseFromSource": "Tooth agenesis, selective, 3", "diseaseFromSourceId": "C1970291", "diseaseFromSourceMappedId": "EFO_0005410", "variantHgvsId": "NC_000014.9:g.36663232A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "no assertion criteria provided", "literature": ["8381387"], "studyId": "RCV000017358", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000145321", "variantFunctionalConsequenceId": "SO_0002162", "cohortPhenotypes": ["GC1/GC2 POLYMORPHISM"], "diseaseFromSource": "GC1/GC2 POLYMORPHISM", "variantHgvsId": "NG_012837.2:g.55347TAAA[(6_10)]"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["1429602"], "studyId": "RCV000018903", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000139219", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_47977607_C_T", "variantRsId": "rs121912868", "cohortPhenotypes": ["Hypochondrogenesis"], "diseaseFromSource": "Hypochondrogenesis", "diseaseFromSourceId": "C0542428", "diseaseFromSourceMappedId": "MONDO_0019669", "variantHgvsId": "NC_000012.12:g.47977607C>T"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000020640", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000140092", "variantFunctionalConsequenceId": "SO_0001907", "cohortPhenotypes": ["Cutis laxa, autosomal dominant 1"], "diseaseFromSource": "Cutis laxa, autosomal dominant 1", "diseaseFromSourceId": "C3276539", "diseaseFromSourceMappedId": "MONDO_0019571", "variantHgvsId": "NC_000014.9:g.91881408_91904133dup"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000022242", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000213930", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_34649462_C_T", "variantRsId": "rs111033792", "cohortPhenotypes": ["Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase", "GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY", "GALACTOSEMIA I", "GALT deficiency", "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia, classic", "Transferase Deficiency Galactosemia"], "diseaseFromSource": "Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase", "diseaseFromSourceId": "C0268151", "diseaseFromSourceMappedId": "MONDO_0009258", "variantHgvsId": "NC_000009.12:g.34649462C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["22405089"], "studyId": "RCV000024211", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "6_157198835_T_A", "variantRsId": "rs748363079", "cohortPhenotypes": ["Coffin-Siris syndrome 1", "Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features", "Mental retardation, autosomal dominant 12"], "diseaseFromSource": "Coffin-Siris syndrome 1", "diseaseFromSourceId": "C3281201", "diseaseFromSourceMappedId": "MONDO_0015452", "variantHgvsId": "NC_000006.12:g.157198835T>A"} {"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000049563", "releaseDate": "2013-07-24", "targetFromSourceId": "ENSG00000103313", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_3254202_G_T", "variantRsId": "rs104895132", "cohortPhenotypes": ["Benign paroxysmal peritonitis", "Familial Mediterranean fever", "POLYSEROSITIS, FAMILIAL PAROXYSMAL", "POLYSEROSITIS, RECURRENT", "Periodic disease", "Periodic peritonitis"], "diseaseFromSource": "Familial Mediterranean fever", "diseaseFromSourceId": "C0031069", "diseaseFromSourceMappedId": "MONDO_0018088", "variantHgvsId": "NC_000016.10:g.3254202G>T"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000050105", "releaseDate": "2013-07-24", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "8_99817707_AC_A", "variantRsId": "rs386834111", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", 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"NC_000019.10:g.45770207_45770209GCA[47]"} +{"alleleOrigins": ["inherited", "maternal", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999677", "releaseDate": "2020-02-09", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[49]"} +{"alleleOrigins": ["inherited", "maternal", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999677", "releaseDate": "2020-02-09", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[49]"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003635", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000075043", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63439680_T_A", "variantRsId": "rs1600755440", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000020.11:g.63439680T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001027600", "releaseDate": "2020-03-26", "targetFromSourceId": "ENSG00000109320", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "4_102537884_TG_T", "variantRsId": "rs1578735747", "cohortPhenotypes": ["Inherited Immunodeficiency Diseases"], "diseaseFromSource": "Inherited Immunodeficiency Diseases", "diseaseFromSourceId": "C5197805", "variantHgvsId": "NC_000004.12:g.102537885del"} 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"rs397516786", "cohortPhenotypes": ["Familial hypertrophic cardiomyopathy 18", "Hypertrophic cardiomyopathy 18"], "diseaseFromSource": "Hypertrophic cardiomyopathy 18", "diseaseFromSourceId": "C3151265", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000006.12:g.118558982C>T"} +{"alleleOrigins": ["paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001330958", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000198523", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_118558982_C_T", "variantRsId": "rs397516786", "cohortPhenotypes": ["Familial hypertrophic cardiomyopathy 18", "Hypertrophic cardiomyopathy 18"], "diseaseFromSource": "Hypertrophic cardiomyopathy 18", "diseaseFromSourceId": "C3151265", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000006.12:g.118558982C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001290125", "releaseDate": "2021-01-30", "targetFromSourceId": "ENSG00000141458", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_23561485_T_A", "variantRsId": "rs2059038310", "cohortPhenotypes": ["NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY", "NIEMANN-PICK DISEASE, VARIANT TYPE C1", "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "Niemann-Pick disease with cholesterol esterification block", "Niemann-Pick disease, chronic neuronopathic form", "Niemann-Pick disease, type C1"], "diseaseFromSource": "Niemann-Pick disease, type C1", "diseaseFromSourceId": "C3179455", "diseaseFromSourceMappedId": "MONDO_0018982", "variantHgvsId": "NC_000018.10:g.23561485T>A"} 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"2020-07-16", "targetFromSourceId": "ENSG00000171988", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_63189337_T_C", "variantRsId": "rs747616915", "cohortPhenotypes": ["Early myoclonic encephalopathy"], "diseaseFromSource": "Early myoclonic encephalopathy", "diseaseFromSourceId": "C0270855", "diseaseFromSourceMappedId": "MONDO_0016022", "variantHgvsId": "NC_000010.11:g.63189337T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232020", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000171988", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_63189337_T_C", "variantRsId": "rs747616915", "cohortPhenotypes": ["Early myoclonic encephalopathy"], "diseaseFromSource": "Early myoclonic encephalopathy", "diseaseFromSourceId": "C0270855", "diseaseFromSourceMappedId": "EFO_1001900", "variantHgvsId": "NC_000010.11:g.63189337T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["27599773", "31705726"], "studyId": "RCV001090034", "releaseDate": "2020-05-04", "targetFromSourceId": "ENSG00000147408", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Skeletal dysplasia, mild, with joint laxity and advanced bone age"], "diseaseFromSource": "Skeletal dysplasia, mild, with joint laxity and advanced bone age", "diseaseFromSourceId": "C5394341", "diseaseFromSourceMappedId": "MONDO_0030029", "variantHgvsId": "NC_000008.11:g.19411890_19467180del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000050105", "releaseDate": "2013-07-24", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "8_99817707_AC_A", "variantRsId": "rs386834111", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", "diseaseFromSourceId": "C0265223", "diseaseFromSourceMappedId": "MONDO_0008999", "variantHgvsId": "NC_000008.11:g.99817708del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19344877"], "studyId": "RCV000004650", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000175294", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_66025840_G_GA", "variantRsId": "rs193929390", "cohortPhenotypes": ["CATSPER-Related Male Infertility", "MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE", "Spermatogenic failure 7"], "diseaseFromSource": "Spermatogenic failure 7", "diseaseFromSourceId": "C2751811", "diseaseFromSourceMappedId": "Orphanet_276234", "variantHgvsId": "NC_000011.10:g.66025841dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19344877"], "studyId": "RCV000004650", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000175294", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_66025840_G_GA", "variantRsId": "rs193929390", "cohortPhenotypes": ["CATSPER-Related Male Infertility", "MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE", "Spermatogenic failure 7"], "diseaseFromSource": "Spermatogenic failure 7", "diseaseFromSourceId": "C2751811", "diseaseFromSourceMappedId": "MONDO_0017173", "variantHgvsId": "NC_000011.10:g.66025841dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000634423", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000171316", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_60865265_C_T", "variantRsId": "rs773045619", "cohortPhenotypes": ["CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES", "CHARGE association", "CHARGE syndrome", "Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies", "Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation", "Hall-Hittner syndrome", "Hittner Hirsch Kreh syndrome"], "diseaseFromSource": "CHARGE association", "diseaseFromSourceId": "C0265354", "diseaseFromSourceMappedId": "MONDO_0008965", "variantHgvsId": "NC_000008.11:g.60865265C>T"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["12140665", "19616813", "31664039"], "studyId": "RCV000855778", "releaseDate": "2019-11-18", "targetFromSourceId": "ENSG00000145495", "variantFunctionalConsequenceId": "SO_0002162", "cohortPhenotypes": ["CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 3", "Epilepsy, familial adult myoclonic, 3", "FAME3"], "diseaseFromSource": "Epilepsy, familial adult myoclonic, 3", "diseaseFromSourceId": "C3150860", "diseaseFromSourceMappedId": "MONDO_0019448", "variantHgvsId": "NC_000005.10:g.10356348_10356407TTTTA[(9_?)]TTTCA[(791_1035)]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no classification provided", "studyId": "RCV000058022", "releaseDate": "2013-10-22", "targetFromSourceId": "ENSG00000055118", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_150951517_C_T", "variantRsId": "rs199472953", "cohortPhenotypes": ["Congenital long QT syndrome", "Familial long QT syndrome", "Romano-Ward syndrome", "Ventricular fibrillation with prolonged QT interval"], "diseaseFromSource": "Congenital long QT syndrome", "diseaseFromSourceId": "C1141890", "diseaseFromSourceMappedId": "MONDO_0019171", "variantHgvsId": "NC_000007.14:g.150951517C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no classification provided", "studyId": "RCV000058022", "releaseDate": "2013-10-22", "targetFromSourceId": "ENSG00000055118", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_150951517_C_T", "variantRsId": "rs199472953", "cohortPhenotypes": ["Congenital long QT syndrome", "Familial long QT syndrome", "Romano-Ward syndrome", "Ventricular fibrillation with prolonged QT interval"], "diseaseFromSource": "Congenital long QT syndrome", "diseaseFromSourceId": "C1141890", "diseaseFromSourceMappedId": "Orphanet_101016", "variantHgvsId": "NC_000007.14:g.150951517C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000774450", "releaseDate": "2019-05-20", "targetFromSourceId": "ENSG00000046604", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_31545746_A_C", "variantRsId": "rs369868954", "cohortPhenotypes": ["Cardiomyopathies", "Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy", "diseaseFromSourceId": "C0878544", "diseaseFromSourceMappedId": "EFO_0000318", "variantHgvsId": "NC_000018.10:g.31545746A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV000790319", "releaseDate": "2019-07-27", "targetFromSourceId": "ENSG00000160789", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_156138717_C_A", "variantRsId": "rs777900936", "cohortPhenotypes": ["Charcot-Marie-Tooth Neuropathy", "Charcot-Marie-Tooth disease"], "diseaseFromSource": "Charcot-Marie-Tooth disease", "diseaseFromSourceId": "C0007959", "diseaseFromSourceMappedId": "MONDO_0015626", "variantHgvsId": "NC_000001.11:g.156138717C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "no assertion criteria provided", "literature": ["8381387"], "studyId": "RCV000017358", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000145321", "variantFunctionalConsequenceId": "SO_0002162", "variantRsId": "rs58603194", "cohortPhenotypes": ["GC1/GC2 POLYMORPHISM"], "diseaseFromSource": "GC1/GC2 POLYMORPHISM", "variantHgvsId": "NG_012837.2:g.55347TAAA[(6_10)]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000663963", "releaseDate": "2018-07-21", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "15_48421682_GT_G", "variantRsId": "rs1555394220", "cohortPhenotypes": ["MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome"], "diseaseFromSource": "Marfan syndrome", "diseaseFromSourceId": "C0024796", "diseaseFromSourceMappedId": "MONDO_0007947", "variantHgvsId": "NC_000015.10:g.48421684del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000591519", "releaseDate": "2018-04-02", "targetFromSourceId": "ENSG00000042781", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Usher Syndromes", "Usher syndrome", "Usher's syndrome"], "diseaseFromSource": "Usher syndrome", "diseaseFromSourceId": "C0271097", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000001.11:g.216263262_216311879del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000622517", "releaseDate": "2018-04-15", "targetFromSourceId": "ENSG00000158813", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "X_69616478_CGTT_C", "variantRsId": "rs397516658", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000023.11:g.69616481_69616483del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000622998", "releaseDate": "2018-04-15", "targetFromSourceId": "ENSG00000181722", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "3_114350299_G_C", "variantRsId": "rs758842476", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000003.12:g.114350299G>C"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000665302", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000072840", "variantFunctionalConsequenceId": "SO_0001821", "variantId": "4_5711491_G_GCTCGGC", "variantRsId": "rs1164121689", "cohortPhenotypes": ["Chondroectodermal dysplasia", "Ellis-van Creveld syndrome", "Mesoectodermal dysplasia"], "diseaseFromSource": "Ellis-van Creveld syndrome", "diseaseFromSourceId": "C0013903", "diseaseFromSourceMappedId": "Orphanet_289", "variantHgvsId": "NC_000004.12:g.5711494CGGCCT[4]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001036456", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000104419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_133258416_T_C", "variantRsId": "rs762263620", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 4", "Charcot-Marie-Tooth, Type 4"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4", "diseaseFromSourceId": "C4082197", "diseaseFromSourceMappedId": "MONDO_0018995", "variantHgvsId": "NC_000008.11:g.133258416T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001226988", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000110274", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_117363444_A_G", "variantRsId": "rs777527578", "cohortPhenotypes": ["Nephronophthisis 15"], "diseaseFromSource": "Nephronophthisis 15", "diseaseFromSourceId": "C3541853", "diseaseFromSourceMappedId": "MONDO_0017842", "variantHgvsId": "NC_000011.10:g.117363444A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001833776", "releaseDate": "2022-02-13", "targetFromSourceId": "ENSG00000159921", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_36217484_G_T", "variantRsId": "rs139347806", "cohortPhenotypes": ["GNE myopathy", "IBM 2", "INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE", "INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE", "Inclusion body myopathy 2", "Inclusion body myopathy autosomal recessive", "Inclusion body myopathy quadriceps sparing", "MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES", "Nonaka distal myopathy", "Nonaka myopathy"], "diseaseFromSource": "GNE myopathy", "diseaseFromSourceId": "C1853926", "diseaseFromSourceMappedId": "Orphanet_602", "variantHgvsId": "NC_000009.12:g.36217484G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001857835", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000105397", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "19_10357853_TGCTTAG_T", "variantRsId": "rs773966828", "cohortPhenotypes": ["HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE", "HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE", "Immunodeficiency 35", "Susceptibility to infection due to TYK2 deficiency", "TYK2 DEFICIENCY", "Tyrosine kinase 2 deficiency"], "diseaseFromSource": "Immunodeficiency 35", "diseaseFromSourceId": "C1969086", "diseaseFromSourceMappedId": "Orphanet_169446", "variantHgvsId": "NC_000019.10:g.10357857_10357862del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001857835", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000105397", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "19_10357853_TGCTTAG_T", "variantRsId": "rs773966828", "cohortPhenotypes": ["HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE", "HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE", "Immunodeficiency 35", "Susceptibility to infection due to TYK2 deficiency", "TYK2 DEFICIENCY", "Tyrosine kinase 2 deficiency"], "diseaseFromSource": "Immunodeficiency 35", "diseaseFromSourceId": "C1969086", "diseaseFromSourceMappedId": "Orphanet_331226", "variantHgvsId": "NC_000019.10:g.10357857_10357862del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001278266", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000107736", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_71778253_T_C", "variantRsId": "rs762613557", "cohortPhenotypes": ["Retinitis pigmentosa and congenital deafness", "Usher syndrome type 1", "Usher syndrome, type I, French variety"], "diseaseFromSource": "Usher syndrome type 1", "diseaseFromSourceId": "C1568247", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000010.11:g.71778253T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000808175", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000198947", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Duchenne muscular dystrophy", "Muscular dystrophy, pseudohypertrophic progressive, Duchenne type"], "diseaseFromSource": "Duchenne muscular dystrophy", "diseaseFromSourceId": "C0013264", "diseaseFromSourceMappedId": "MONDO_0010679", "variantHgvsId": "NC_000023.11:g.32622009_32644156del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000808175", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000221348", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Duchenne muscular dystrophy", "Muscular dystrophy, pseudohypertrophic progressive, Duchenne type"], "diseaseFromSource": "Duchenne muscular dystrophy", "diseaseFromSourceId": "C0013264", "diseaseFromSourceMappedId": "MONDO_0010679", "variantHgvsId": "NC_000023.11:g.32622009_32644156del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000591738", "releaseDate": "2018-04-02", "targetFromSourceId": "ENSG00000042781", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Usher Syndromes", "Usher syndrome", "Usher's syndrome"], "diseaseFromSource": "Usher syndrome", "diseaseFromSourceId": "C0271097", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000001.11:g.215999483_216183366del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000792965", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000115085", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_97734565_C_T", "variantRsId": "rs903840321", "cohortPhenotypes": ["ZAP70-Related Severe Combined Immunodeficiency"], "diseaseFromSource": "ZAP70-Related Severe Combined Immunodeficiency", "diseaseFromSourceId": "C2931299", "diseaseFromSourceMappedId": "MONDO_0010023", "variantHgvsId": "NC_000002.12:g.97734565C>T"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001196131", "releaseDate": "2020-07-04", "targetFromSourceId": "ENSG00000104728", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_1864432_A_G", "variantRsId": "rs746857277", "cohortPhenotypes": ["Autosomal dominant slowed nerve conduction velocity"], "diseaseFromSource": "Autosomal dominant slowed nerve conduction velocity", "diseaseFromSourceId": "C1842357", "diseaseFromSourceMappedId": "MONDO_0011998", "variantHgvsId": "NC_000008.11:g.1864432A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000192441", "releaseDate": "2015-10-05", "targetFromSourceId": "ENSG00000164190", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "5_37060996_G_GTA", "variantRsId": "rs797045784", "cohortPhenotypes": ["Brachmann de Lange syndrome", "Cornelia de Lange syndrome 1", "Typus degenerativus amstelodamensis"], "diseaseFromSource": "Cornelia de Lange syndrome 1", "diseaseFromSourceId": "C4551851", "diseaseFromSourceMappedId": "MONDO_0016033", "variantHgvsId": "NC_000005.10:g.37060997TA[3]"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000259393", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000105641", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "19_17872267_C_T", "variantRsId": "rs886054281", "cohortPhenotypes": ["Familial thyroid dyshormonogenesis 1", "HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1", "IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT", "THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1", "Thyroid dyshormonogenesis 1"], "diseaseFromSource": "Familial thyroid dyshormonogenesis 1", "diseaseFromSourceId": "C1848805", "diseaseFromSourceMappedId": "Orphanet_95716", "variantHgvsId": "NC_000019.10:g.17872267C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000260368", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000052850", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_44275556_G_A", "variantRsId": "rs143620051", "cohortPhenotypes": ["Parietal foramina 2"], "diseaseFromSource": "Parietal foramina 2", "diseaseFromSourceId": "C1865044", "diseaseFromSourceMappedId": "MONDO_0018953", "variantHgvsId": "NC_000011.10:g.44275556G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000269816", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000102743", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "13_40807393_T_C", "variantRsId": "rs374352017", "cohortPhenotypes": ["HHH syndrome", "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "Ornithine translocase deficiency", "Ornithine translocase deficiency syndrome"], "diseaseFromSource": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "diseaseFromSourceId": "C0268540", "diseaseFromSourceMappedId": "Orphanet_415", "variantHgvsId": "NC_000013.11:g.40807393T>C"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000273861", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100416", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_46355522_C_G", "variantRsId": "rs150128284", "cohortPhenotypes": ["Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "LIVER FAILURE, INFANTILE, TRANSIENT", "Liver failure acute infantile"], "diseaseFromSource": "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "diseaseFromSourceId": "C3278664", "diseaseFromSourceMappedId": "MONDO_0013111", "variantHgvsId": "NC_000022.11:g.46355522C>G"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000273861", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100416", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_46355522_C_G", "variantRsId": "rs150128284", "cohortPhenotypes": ["Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "LIVER FAILURE, INFANTILE, TRANSIENT", "Liver failure acute infantile"], "diseaseFromSource": "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "diseaseFromSourceId": "C3278664", "diseaseFromSourceMappedId": "Orphanet_217371", "variantHgvsId": "NC_000022.11:g.46355522C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000273957", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000133063", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "1_203225876_C_T", "variantRsId": "rs190551025", "cohortPhenotypes": ["Chitotriosidase deficiency"], "diseaseFromSource": "Chitotriosidase deficiency", "diseaseFromSourceId": "C3279902", "diseaseFromSourceMappedId": "MONDO_0013586", "variantHgvsId": "NC_000001.11:g.203225876C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000274476", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000104763", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_18056848_A_G", "variantRsId": "rs886062777", "cohortPhenotypes": ["AC deficiency", "Acid ceramidase deficiency", "Ceramidase deficiency", "Farber disease", "Farber lipogranulomatosis", "Farber's disease", "Farber's lipogranulomatosis", "N-Laurylsphingosine deacylase deficiency"], "diseaseFromSource": "Farber lipogranulomatosis", "diseaseFromSourceId": "C0268255", "diseaseFromSourceMappedId": "Orphanet_333", "variantHgvsId": "NC_000008.11:g.18056848A>G"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000274476", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000104763", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_18056848_A_G", "variantRsId": "rs886062777", "cohortPhenotypes": ["AC deficiency", "Acid ceramidase deficiency", "Ceramidase deficiency", "Farber disease", "Farber lipogranulomatosis", "Farber's disease", "Farber's lipogranulomatosis", "N-Laurylsphingosine deacylase deficiency"], "diseaseFromSource": "Farber lipogranulomatosis", "diseaseFromSourceId": "C0268255", "diseaseFromSourceMappedId": "MONDO_0009218", "variantHgvsId": "NC_000008.11:g.18056848A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000275192", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000167792", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_67609491_G_A", "variantRsId": "rs140445386", "cohortPhenotypes": ["MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF", "Mitochondrial complex I deficiency, nuclear type 1", "NADH-COENZYME Q REDUCTASE DEFICIENCY"], "diseaseFromSource": "Mitochondrial complex I deficiency, nuclear type 1", "diseaseFromSourceId": "CN257533", "diseaseFromSourceMappedId": "MONDO_0100133", "variantHgvsId": "NC_000011.10:g.67609491G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000276090", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000214960", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_16091274_A_G", "variantRsId": "rs886062164", "cohortPhenotypes": ["Congenital Muscular Dystrophy, alpha-dystroglycan related"], "diseaseFromSource": "Congenital Muscular Dystrophy, alpha-dystroglycan related", "diseaseFromSourceId": "CN239202", "variantHgvsId": "NC_000007.14:g.16091274A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000278645", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000155850", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_149982709_A_G", "variantRsId": "rs886060230", "cohortPhenotypes": ["Multiple epiphyseal dysplasia type 4", "Multiple epiphyseal dysplasia with bilayered patellae", "Multiple epiphyseal dysplasia with clubfoot", "Multiple epiphyseal dysplasia with double-layered patella", "Multiple epiphyseal dysplasia, autosomal recessive"], "diseaseFromSource": "Multiple epiphyseal dysplasia type 4", "diseaseFromSourceId": "C1847593", "diseaseFromSourceMappedId": "MONDO_0009189", "variantHgvsId": "NC_000005.10:g.149982709A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000278645", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000155850", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_149982709_A_G", "variantRsId": "rs886060230", "cohortPhenotypes": ["Multiple Epiphyseal Dysplasia, Recessive", "Multiple epiphyseal dysplasia type 4", "Multiple epiphyseal dysplasia with bilayered patellae", "Multiple epiphyseal dysplasia with clubfoot", "Multiple epiphyseal dysplasia with double-layered patella", "Multiple epiphyseal dysplasia, autosomal recessive"], "diseaseFromSource": "Multiple epiphyseal dysplasia type 4", "diseaseFromSourceId": "C1847593", "diseaseFromSourceMappedId": "MONDO_0009189", "variantHgvsId": "NC_000005.10:g.149982709A>G"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000280743", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000137869", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "15_51209789_G_A", "variantRsId": "rs886051274", "cohortPhenotypes": ["Aromatase deficiency", "Increased aromatase activity", "Pseudohermaphroditism, female, due to placental aromatase deficiency"], "diseaseFromSource": "Aromatase deficiency", "diseaseFromSourceId": "C1960539", "diseaseFromSourceMappedId": "MONDO_0013301", "variantHgvsId": "NC_000015.10:g.51209789G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000293687", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000113273", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_78779779_G_A", "variantRsId": "rs757857543", "cohortPhenotypes": ["Arylsulfatase B deficiency", "MPS 6", "MPS VI", "Maroteaux Lamy syndrome", "Mucopolysaccharidosis type 6", "Mucopolysaccharidosis type VI", "N-acetylgalactosamine-4-sulfatase deficiency"], "diseaseFromSource": "Mucopolysaccharidosis type 6", "diseaseFromSourceId": "C0026709", "diseaseFromSourceMappedId": "MONDO_0009661", "variantHgvsId": "NC_000005.10:g.78779779G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000293687", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000113273", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_78779779_G_A", "variantRsId": "rs757857543", "cohortPhenotypes": ["Arylsulfatase B deficiency", "MPS 6", "MPS VI", "Maroteaux Lamy syndrome", "Mucopolysaccharidosis type 6", "Mucopolysaccharidosis type VI", "N-acetylgalactosamine-4-sulfatase deficiency"], "diseaseFromSource": "Mucopolysaccharidosis type 6", "diseaseFromSourceId": "C0026709", "diseaseFromSourceMappedId": "Orphanet_79213", "variantHgvsId": "NC_000005.10:g.78779779G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000296044", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000145476", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "4_186212608_C_T", "variantRsId": "rs886059294", "cohortPhenotypes": ["Corneal Dystrophy, Recessive"], "diseaseFromSource": "Corneal Dystrophy, Recessive", "diseaseFromSourceId": "CN239343", "variantHgvsId": "NC_000004.12:g.186212608C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000308394", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "2_166196010_C_T", "variantRsId": "rs149873320", "cohortPhenotypes": ["PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING", "Paroxysmal extreme pain disorder", "RECTAL PAIN, FAMILIAL"], "diseaseFromSource": "Paroxysmal extreme pain disorder", "diseaseFromSourceId": "C1833661", "diseaseFromSourceMappedId": "MONDO_0008179", "variantHgvsId": "NC_000002.12:g.166196010C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "MONDO_0005129", "variantHgvsId": "NC_000003.12:g.45967999C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_91492", "variantHgvsId": "NC_000003.12:g.45967999C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive 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"confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98995", "variantHgvsId": "NC_000003.12:g.45967999C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000329537", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000081923", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_57706547_G_T", "variantRsId": "rs145214384", "cohortPhenotypes": ["Byler disease", "Byler's disease", "Progressive familial intrahepatic cholestasis type 1"], "diseaseFromSource": "Progressive familial intrahepatic cholestasis type 1", "diseaseFromSourceId": "C4551898", "diseaseFromSourceMappedId": "MONDO_0008892", "variantHgvsId": "NC_000018.10:g.57706547G>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000337687", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000166415", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "15_53515041_G_GTATATATATGTGTGTATATATATACACACATATATATGTGTA", "variantRsId": "rs1555402394", "cohortPhenotypes": ["Amelogenesis Imperfecta, Recessive"], "diseaseFromSource": "Amelogenesis Imperfecta, Recessive", "diseaseFromSourceId": "CN239209", "variantHgvsId": "NC_000015.10:g.53515042_53515080TA[4]TG[3]TA[5]CA[3]TA[3]TG[2]TA[5]TG[3]TA[5]CA[3]TA[3]TGT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339133", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000105983", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_156682634_A_C", "variantRsId": "rs17837687", "cohortPhenotypes": ["POLYDACTYLY OF TRIPHALANGEAL THUMB", "Polydactyly of a triphalangeal thumb", "Polydactyly, preaxial II", "TPT-PS SYNDROME", "TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME"], "diseaseFromSource": "Polydactyly of a triphalangeal thumb", "diseaseFromSourceId": "C1868114", "diseaseFromSourceMappedId": "MONDO_0008270", "variantHgvsId": "NC_000007.14:g.156682634A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339133", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000105983", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_156682634_A_C", "variantRsId": "rs17837687", "cohortPhenotypes": ["POLYDACTYLY OF TRIPHALANGEAL THUMB", "Polydactyly of a triphalangeal thumb", "Polydactyly, preaxial II", "TPT-PS SYNDROME", "TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME"], "diseaseFromSource": "Polydactyly of a triphalangeal thumb", "diseaseFromSourceId": "C1868114", "diseaseFromSourceMappedId": "Orphanet_294939", "variantHgvsId": "NC_000007.14:g.156682634A>C"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339505", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000046604", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "18_31547162_G_T", "variantRsId": "rs552933757", "cohortPhenotypes": ["Dilated Cardiomyopathy, Dominant"], "diseaseFromSource": "Dilated Cardiomyopathy, Dominant", "diseaseFromSourceId": "CN239310", "diseaseFromSourceMappedId": "EFO_0009142", "variantHgvsId": "NC_000018.10:g.31547162G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000340578", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000124299", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "19_33387291_G_A", "variantRsId": "rs77690463", "cohortPhenotypes": ["Prolidase deficiency"], "diseaseFromSource": "Prolidase deficiency", "diseaseFromSourceId": "C0268532", "diseaseFromSourceMappedId": "MONDO_0008221", "variantHgvsId": "NC_000019.10:g.33387291G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000342781", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000064309", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "11_125958565_A_ATATATGTGTGTGTG", "variantRsId": "rs371911236", "cohortPhenotypes": ["ARHINENCEPHALY", "HOLOPROSENCEPHALY, FAMILIAL ALOBAR", "HPE, FAMILIAL", "Holoprosencephaly", "Holoprosencephaly sequence"], "diseaseFromSource": "Holoprosencephaly sequence", "diseaseFromSourceId": "C0079541", "diseaseFromSourceMappedId": "Orphanet_2162", "variantHgvsId": "NC_000011.10:g.125958566TA[2]TG[5]T[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000342781", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000064309", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "11_125958565_A_ATATATGTGTGTGTG", "variantRsId": "rs371911236", "cohortPhenotypes": ["ARHINENCEPHALY", "HOLOPROSENCEPHALY, FAMILIAL ALOBAR", "HPE, FAMILIAL", "Holoprosencephaly", "Holoprosencephaly sequence"], "diseaseFromSource": "Holoprosencephaly sequence", "diseaseFromSourceId": "C0079541", "diseaseFromSourceMappedId": "MONDO_0016296", "variantHgvsId": "NC_000011.10:g.125958566TA[2]TG[5]T[1]"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000343150", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000102743", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "13_40809884_G_A", "variantRsId": "rs886050241", "cohortPhenotypes": ["HHH syndrome", "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "Ornithine translocase deficiency", "Ornithine translocase deficiency syndrome"], "diseaseFromSource": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "diseaseFromSourceId": "C0268540", "diseaseFromSourceMappedId": "Orphanet_415", "variantHgvsId": "NC_000013.11:g.40809884G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000345155", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000135517", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_56454516_C_T", "variantRsId": "rs139963297", "cohortPhenotypes": ["CATARACT 15, LAMELLAR WITH SUTURAL OPACITIES", "Cataract 15 multiple types"], "diseaseFromSource": "Cataract 15 multiple types", "diseaseFromSourceId": "C3809001", "variantHgvsId": "NC_000012.12:g.56454516C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000348088", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000106799", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_99153772_C_A", "variantRsId": "rs886063257", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "EFO_0009299", "variantHgvsId": "NC_000009.12:g.99153772C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000348088", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000106799", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_99153772_C_A", "variantRsId": "rs886063257", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "Orphanet_285014", "variantHgvsId": "NC_000009.12:g.99153772C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000350350", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000148606", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "10_77976135_CT_C", "variantRsId": "rs56144624", "cohortPhenotypes": ["Pol III-Related Leukodystrophies", "Pol III-related leukodystrophy"], "diseaseFromSource": "Pol III-related leukodystrophy", "diseaseFromSourceId": "CN168056", "diseaseFromSourceMappedId": "Orphanet_289494", "variantHgvsId": "NC_000010.11:g.77976147del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000352847", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000174697", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_128255185_G_C", "variantRsId": "rs886061975", "cohortPhenotypes": ["Leptin deficiency or dysfunction", "Obesity due to congenital leptin deficiency"], "diseaseFromSource": "Obesity due to congenital leptin deficiency", "diseaseFromSourceId": "C3554224", "diseaseFromSourceMappedId": "Orphanet_66628", "variantHgvsId": "NC_000007.14:g.128255185G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000352847", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000174697", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_128255185_G_C", "variantRsId": "rs886061975", "cohortPhenotypes": ["Leptin deficiency or dysfunction", "Obesity due to congenital leptin deficiency"], "diseaseFromSource": "Obesity due to congenital leptin deficiency", "diseaseFromSourceId": "C3554224", "diseaseFromSourceMappedId": "MONDO_0013991", "variantHgvsId": "NC_000007.14:g.128255185G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000353472", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000196236", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "22_40927070_C_T", "variantRsId": "rs886057511", "cohortPhenotypes": ["Nephronophthisis-like nephropathy 1"], "diseaseFromSource": "Nephronophthisis-like nephropathy 1", "diseaseFromSourceId": "C3150419", "diseaseFromSourceMappedId": "MONDO_0019005", "variantHgvsId": "NC_000022.11:g.40927070C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000361861", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000159921", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "9_36216327_A_ATGTGTGTGTGTGTGTGTG", "variantRsId": "rs10527967", "cohortPhenotypes": ["Inclusion Body Myopathy, Recessive"], "diseaseFromSource": "Inclusion Body Myopathy, Recessive", "diseaseFromSourceId": "CN239230", "diseaseFromSourceMappedId": "Orphanet_602", "variantHgvsId": "NC_000009.12:g.36216329GT[22]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000370803", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000138738", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "4_120785105_A_G", "variantRsId": "rs375296023", "cohortPhenotypes": ["Brittle cornea syndrome 2"], "diseaseFromSource": "Brittle cornea syndrome 2", "diseaseFromSourceId": "C3280011", "diseaseFromSourceMappedId": "MONDO_0009242", "variantHgvsId": "NC_000004.12:g.120785105A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000373515", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000213281", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "1_114705630_T_C", "variantRsId": "rs140878667", "cohortPhenotypes": ["NRAS gene related Noonan syndrome", "Noonan syndrome 6"], "diseaseFromSource": "Noonan syndrome 6", "diseaseFromSourceId": "C2750732", "diseaseFromSourceMappedId": "MONDO_0018997", "variantHgvsId": "NC_000001.11:g.114705630T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000376102", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000174804", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "11_86955347_G_A", "variantRsId": "rs568903306", "cohortPhenotypes": ["Criswick-Schepens syndrome", "Exudative vitreoretinopathy 1", "FEVR, AUTOSOMAL DOMINANT", "Familial exudative vitreoretinopathy, autosomal dominant"], "diseaseFromSource": "Exudative vitreoretinopathy 1", "diseaseFromSourceId": "C1851402", "diseaseFromSourceMappedId": "Orphanet_891", "variantHgvsId": "NC_000011.10:g.86955347G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000382958", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000141646", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "18_51084012_G_GCACACACACACACA", "variantRsId": "rs56017493", "cohortPhenotypes": ["Juvenile Polyposis"], "diseaseFromSource": "Juvenile Polyposis", "diseaseFromSourceId": "CN239474", "diseaseFromSourceMappedId": "MONDO_0017380", "variantHgvsId": "NC_000018.10:g.51084013CA[23]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000385692", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000124370", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71124216_A_T", "variantRsId": "rs886056277", "cohortPhenotypes": ["METHYLMALONIC ACIDURIA III", "METHYLMALONYL-CoA RACEMASE DEFICIENCY", "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "Methylmalonyl-CoA epimerase deficiency"], "diseaseFromSource": "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "diseaseFromSourceId": "C1855100", "diseaseFromSourceMappedId": "MONDO_0009615", "variantHgvsId": "NC_000002.12:g.71124216A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000385692", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000124370", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71124216_A_T", "variantRsId": "rs886056277", "cohortPhenotypes": ["METHYLMALONIC ACIDURIA III", "METHYLMALONYL-CoA RACEMASE DEFICIENCY", "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "Methylmalonyl-CoA epimerase deficiency"], "diseaseFromSource": "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "diseaseFromSourceId": "C1855100", "diseaseFromSourceMappedId": "Orphanet_308425", "variantHgvsId": "NC_000002.12:g.71124216A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000392856", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000197102", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "14_102034137_T_C", "variantRsId": "rs763119040", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O", "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O", "Charcot-Marie-Tooth Neuropathy Type 2O", "Charcot-Marie-Tooth disease axonal type 2O", "Charcot-Marie-Tooth disease, axonal, type 20"], "diseaseFromSource": "Charcot-Marie-Tooth disease axonal type 2O", "diseaseFromSourceId": "C3280220", "diseaseFromSourceMappedId": "MONDO_0013644", "variantHgvsId": "NC_000014.9:g.102034137T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000402145", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000034693", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "6_143450846_T_C", "variantRsId": "rs184934783", "cohortPhenotypes": ["Peroxisome biogenesis disorder 10A", "Peroxisome biogenesis disorder 10A (Zellweger)"], "diseaseFromSource": "Peroxisome biogenesis disorder 10A (Zellweger)", "diseaseFromSourceId": "C3553999", "diseaseFromSourceMappedId": "Orphanet_912", "variantHgvsId": "NC_000006.12:g.143450846T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000405770", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000091622", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_6453135_C_T", "variantRsId": "rs28593105", "cohortPhenotypes": ["Cone-rod dystrophy 5"], "diseaseFromSource": "Cone-rod dystrophy 5", "diseaseFromSourceId": "C1832976", "diseaseFromSourceMappedId": "Orphanet_1872", "variantHgvsId": "NC_000017.11:g.6453135C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000407201", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100299", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "22_50628124_C_G", "variantRsId": "rs6151406", "cohortPhenotypes": ["Arylsulfatase A Deficiency", "Cerebral sclerosis diffuse metachromatic form", "Cerebroside sulfatase deficiency", "Metachromatic leukodystrophy", "Metachromatic leukoencephalopathy", "Sulfatide lipidosis"], "diseaseFromSource": "Metachromatic leukodystrophy", "diseaseFromSourceId": "C0023522", "diseaseFromSourceMappedId": "MONDO_0018868", "variantHgvsId": "NC_000022.11:g.50628124C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic", "pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000411534", "releaseDate": "2017-01-07", "targetFromSourceId": "ENSG00000072778", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "17_7224245_T_C", "variantRsId": "rs111851815", "cohortPhenotypes": ["VLCAD deficiency", "Very long chain acyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Very long chain acyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C3887523", "diseaseFromSourceMappedId": "MONDO_0008723", "variantHgvsId": "NC_000017.11:g.7224245T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000414360", "releaseDate": "2017-01-09", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.43081201_43091610del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000414360", "releaseDate": "2017-01-09", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "MONDO_0011450", "variantHgvsId": "NC_000017.11:g.43081201_43091610del"} -{"alleleOrigins": ["maternal", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001822951", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000091536", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_18171738_C_T", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 3", "Deafness, autosomal recessive 3", "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 3", "diseaseFromSourceId": "C1838263", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000017.11:g.18171738C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000476345", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000183873", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "3_38585690_C_A", "variantRsId": "rs1060501130", "cohortPhenotypes": ["Brugada syndrome", "Sudden Unexplained Death Syndrome", "Sudden Unexplained Nocturnal Death Syndrome (SUNDS)", "Sudden unexpected nocturnal death syndrome", "Sudden unexplained nocturnal death syndrome"], "diseaseFromSource": "Brugada syndrome", "diseaseFromSourceId": "C1142166", "diseaseFromSourceMappedId": "MONDO_0015263", "variantHgvsId": "NC_000003.12:g.38585690C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["6344088"], "studyId": "RCV000011137", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000160211", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_154532625_C_T", "variantRsId": "rs137852336", "cohortPhenotypes": ["Anemia, nonspherocytic hemolytic, due to G6PD deficiency", "Class I glucose-6-phosphate dehydrogenase deficiency", "Favism, susceptibility to", "Glucose-6-phosphate dehydrogenase deficiency", "Hemolytic anemia due to G6PD deficiency"], "diseaseFromSource": "Anemia, nonspherocytic hemolytic, due to G6PD deficiency", "diseaseFromSourceId": "C2720289", "diseaseFromSourceMappedId": "EFO_1000641", "variantHgvsId": "NC_000023.11:g.154532625C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000276459", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000038427", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_83582037_T_C", "variantRsId": "rs10233", "cohortPhenotypes": ["Hyaloideoretinal degeneration of Wagner", "VCAN-Related Vitreoretinopathy", "WAGNER VITREORETINOPATHY", "Wagner disease", "Wagner disease (formerly)", "Wagner syndrome", "Wagner syndrome type 1", "Wagner vitreoretinal degeneration"], "diseaseFromSource": "Wagner syndrome", "diseaseFromSourceId": "C1840452", "diseaseFromSourceMappedId": "MONDO_0007740", "variantHgvsId": "NC_000005.10:g.83582037T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001913088", "releaseDate": "2022-05-04", "targetFromSourceId": "ENSG00000105976", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_116699900_G_C", "cohortPhenotypes": ["Renal cell carcinoma"], "diseaseFromSource": "Renal cell carcinoma", "diseaseFromSourceId": "C0007134", "diseaseFromSourceMappedId": "EFO_0000681", "variantHgvsId": "NC_000007.14:g.116699900G>C"} -{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001839108", "releaseDate": "2022-05-07", "targetFromSourceId": "ENSG00000104112", "variantFunctionalConsequenceId": "SO_0001889", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 13", "Early infantile epileptic encephalopathy 13", "SCN8A-Related Epilepsy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 13", "diseaseFromSourceId": "C3281191", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000015.10:g.51681311_51791472dup"} -{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001839108", "releaseDate": "2022-05-07", "targetFromSourceId": "ENSG00000128872", "variantFunctionalConsequenceId": "SO_0001580", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 13", "Early infantile epileptic encephalopathy 13", "SCN8A-Related Epilepsy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 13", "diseaseFromSourceId": "C3281191", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000015.10:g.51681311_51791472dup"} -{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001839108", "releaseDate": "2022-05-07", "targetFromSourceId": "ENSG00000140280", "variantFunctionalConsequenceId": "SO_0001889", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 13", "Early infantile epileptic encephalopathy 13", "SCN8A-Related Epilepsy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 13", "diseaseFromSourceId": "C3281191", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000015.10:g.51681311_51791472dup"} -{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001839258", "releaseDate": "2022-05-07", "targetFromSourceId": "ENSG00000055609", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Kleefstra syndrome 2"], "diseaseFromSource": "Kleefstra syndrome 2", "diseaseFromSourceId": "C4540395", "diseaseFromSourceMappedId": "MONDO_0012455", "variantHgvsId": "NC_000007.14:g.152052676_152295696del"} -{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001839258", "releaseDate": "2022-05-07", "targetFromSourceId": "ENSG00000178234", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Kleefstra syndrome 2"], "diseaseFromSource": "Kleefstra syndrome 2", "diseaseFromSourceId": "C4540395", "diseaseFromSourceMappedId": "MONDO_0012455", "variantHgvsId": "NC_000007.14:g.152052676_152295696del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000170117", "releaseDate": "2015-04-24", "targetFromSourceId": "ENSG00000169057", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Autism, dementia, ataxia, and loss of purposeful hand use", "MECP2-Related Disorders", "Rett syndrome", "Rett's disorder"], "diseaseFromSource": "Rett syndrome", "diseaseFromSourceId": "C0035372", "diseaseFromSourceMappedId": "MONDO_0010726", "variantHgvsId": "NC_000023.11:g.154015897_154030807del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000170117", "releaseDate": "2015-04-24", "targetFromSourceId": "ENSG00000184216", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autism, dementia, ataxia, and loss of purposeful hand use", "MECP2-Related Disorders", "Rett syndrome", "Rett's disorder"], "diseaseFromSource": "Rett syndrome", "diseaseFromSourceId": "C0035372", "diseaseFromSourceMappedId": "MONDO_0010726", "variantHgvsId": "NC_000023.11:g.154015897_154030807del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000170117", "releaseDate": "2015-04-24", "targetFromSourceId": "ENSG00000284286", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Autism, dementia, ataxia, and loss of purposeful hand use", "MECP2-Related Disorders", "Rett syndrome", "Rett's disorder"], "diseaseFromSource": "Rett syndrome", "diseaseFromSourceId": "C0035372", "diseaseFromSourceMappedId": "MONDO_0010726", "variantHgvsId": "NC_000023.11:g.154015897_154030807del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000565815", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000113522", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_132588712_C_T", "variantRsId": "rs1554098240", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000005.10:g.132588712C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000573090", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "16_2084230_G_T", "variantRsId": "rs760704956", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000016.10:g.2084230G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000644974", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000127838", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_218341552_C_T", "variantRsId": "rs761712009", "cohortPhenotypes": ["Paroxysmal non-kinesigenic dyskinesia", "Paroxysmal nonkinesigenic dyskinesia"], "diseaseFromSource": "Paroxysmal nonkinesigenic dyskinesia", "diseaseFromSourceId": "C1869117", "diseaseFromSourceMappedId": "Orphanet_98810", "variantHgvsId": "NC_000002.12:g.218341552C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000644974", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000127838", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_218341552_C_T", "variantRsId": "rs761712009", "cohortPhenotypes": ["Paroxysmal non-kinesigenic dyskinesia", "Paroxysmal nonkinesigenic dyskinesia"], "diseaseFromSource": "Paroxysmal nonkinesigenic dyskinesia", "diseaseFromSourceId": "C1869117", "diseaseFromSourceMappedId": "MONDO_0700088", "variantHgvsId": "NC_000002.12:g.218341552C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic", "pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000674492", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000197299", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "15_90803668_CT_C", "variantRsId": "rs1555424311", "cohortPhenotypes": ["Bloom syndrome", "Bloom-Torre-Machacek syndrome", "Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability", "MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 1"], "diseaseFromSource": "Bloom syndrome", "diseaseFromSourceId": "C0005859", "diseaseFromSourceMappedId": "MONDO_0008876", "variantHgvsId": "NC_000015.10:g.90803670del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000892535", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000134516", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_170042099_C_T", "variantRsId": "rs151251345", "cohortPhenotypes": ["DOCK2 deficiency", "Immunodeficiency 40"], "diseaseFromSource": "DOCK2 deficiency", "diseaseFromSourceId": "C4225328", "diseaseFromSourceMappedId": "Orphanet_179006", "variantHgvsId": "NC_000005.10:g.170042099C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001018332", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000127616", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_11024411_G_A", "variantRsId": "rs529586298", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000019.10:g.11024411G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001044598", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_108281079_T_TC", "variantRsId": "rs2082208208", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108281081dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001221204", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000108384", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "17_58720800_G_GT", "variantRsId": "rs2048893092", "cohortPhenotypes": ["Fanconi anemia complementation group O"], "diseaseFromSource": "Fanconi anemia complementation group O", "diseaseFromSourceId": "C3150653", "variantHgvsId": "NC_000017.11:g.58720802dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377288", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000079739", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "1_63651667_A_G", "cohortPhenotypes": ["CDG It", "Congenital disorder of glycosylation type 1t", "GSD XIV", "Glycogen storage disease XIV", "PGM1 DEFICIENCY", "PGM1-CDG", "PHOSPHOGLUCOMUTASE 1 DEFICIENCY"], "diseaseFromSource": "PGM1-CDG", "diseaseFromSourceId": "C2752015", "diseaseFromSourceMappedId": "Orphanet_137", "variantHgvsId": "NC_000001.11:g.63651667A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377288", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000079739", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "1_63651667_A_G", "cohortPhenotypes": ["CDG It", "Congenital disorder of glycosylation type 1t", "GSD XIV", "Glycogen storage disease XIV", "PGM1 DEFICIENCY", "PGM1-CDG", "PHOSPHOGLUCOMUTASE 1 DEFICIENCY"], "diseaseFromSource": "PGM1-CDG", "diseaseFromSourceId": "C2752015", "diseaseFromSourceMappedId": "MONDO_0013968", "variantHgvsId": "NC_000001.11:g.63651667A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001395954", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000146648", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "7_55174034_G_C", "cohortPhenotypes": ["EGFR-related lung cancer"], "diseaseFromSource": "EGFR-related lung cancer", "diseaseFromSourceId": "CN130014", "variantHgvsId": "NC_000007.14:g.55174034G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001401655", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000127616", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "19_11034207_G_T", "cohortPhenotypes": ["Rhabdoid tumor predisposition syndrome 2"], "diseaseFromSource": "Rhabdoid tumor predisposition syndrome 2", "diseaseFromSourceId": "C2750074", "diseaseFromSourceMappedId": "MONDO_0016473", "variantHgvsId": "NC_000019.10:g.11034207G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001408293", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000076685", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_103089684_C_T", "cohortPhenotypes": ["Hereditary spastic paraplegia 45", "SPASTIC PARAPLEGIA 45", "Spastic paraplegia 45, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 45", "diseaseFromSourceId": "C3888209", "diseaseFromSourceMappedId": "Orphanet_306511", "variantHgvsId": "NC_000010.11:g.103089684C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001408293", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000148842", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "10_103089684_C_T", "cohortPhenotypes": ["Hereditary spastic paraplegia 45", "SPASTIC PARAPLEGIA 45", "Spastic paraplegia 45, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 45", "diseaseFromSourceId": "C3888209", "diseaseFromSourceMappedId": "Orphanet_306511", "variantHgvsId": "NC_000010.11:g.103089684C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001413739", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000035403", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "10_74114397_G_A", "cohortPhenotypes": ["Dilated cardiomyopathy 1W"], "diseaseFromSource": "Dilated cardiomyopathy 1W", "diseaseFromSourceId": "C1969639", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000010.11:g.74114397G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001419888", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000118046", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_1223033_A_C", "cohortPhenotypes": ["Lentiginosis, perioral", "Periorificial lentiginosis syndrome", "Peutz-Jeghers polyposis", "Peutz-Jeghers syndrome", "Polyposis, hamartomatous intestinal", "Polyps-and-spots syndrome"], "diseaseFromSource": "Peutz-Jeghers syndrome", "diseaseFromSourceId": "C0031269", "diseaseFromSourceMappedId": "MONDO_0008280", "variantHgvsId": "NC_000019.10:g.1223033A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001017436", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000133030", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_17217105_G_A", "variantRsId": "rs768454196", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.17217105G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001017436", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000154803", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_17217105_G_A", "variantRsId": "rs768454196", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.17217105G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001018332", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000127616", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_11024411_G_A", "variantRsId": "rs529586298", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic 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"Orphanet_140162", "variantHgvsId": "NC_000012.12:g.57751081G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001023714", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_214809519_C_A", "variantRsId": "rs864622419", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214809519C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001026095", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000177084", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_132677582_TG_T", "variantRsId": "rs1593081630", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000012.12:g.132677584del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001056107", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000103150", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_83899641_C_T", "variantRsId": "rs774598772", "cohortPhenotypes": ["Deficiency of malonyl-CoA decarboxylase", "MCD deficiency", "Malonic acidemia", "Malonic aciduria"], "diseaseFromSource": "Deficiency of malonyl-CoA decarboxylase", "diseaseFromSourceId": "C0342793", "diseaseFromSourceMappedId": "MONDO_0009556", "variantHgvsId": "NC_000016.10:g.83899641C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001079404", "releaseDate": "2020-05-04", "targetFromSourceId": "ENSG00000165699", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_132905803_G_A", "variantRsId": "rs775869914", "cohortPhenotypes": ["Tuberous sclerosis 1"], "diseaseFromSource": "Tuberous sclerosis 1", "diseaseFromSourceId": "C1854465", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000009.12:g.132905803G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting classifications", "studyId": "RCV001079914", "releaseDate": "2020-05-04", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_99467624_C_G", "variantRsId": "rs149478021", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", "diseaseFromSourceId": "C0265223", "diseaseFromSourceMappedId": "MONDO_0008999", "variantHgvsId": "NC_000008.11:g.99467624C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001080129", "releaseDate": "2020-05-04", "targetFromSourceId": "ENSG00000020922", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_94420160_T_C", "variantRsId": "rs1805362", "cohortPhenotypes": ["Ataxia-telangiectasia-like disorder"], "diseaseFromSource": "Ataxia-telangiectasia-like disorder", "diseaseFromSourceId": "C1858391", "diseaseFromSourceMappedId": "MONDO_0011457", "variantHgvsId": "NC_000011.10:g.94420160T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001084564", "releaseDate": "2020-05-04", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_32339025_C_G", "variantRsId": "rs80358698", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and 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"C0677776", "diseaseFromSourceMappedId": "MONDO_0003582", "variantHgvsId": "NC_000013.11:g.32339025C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001090209", "releaseDate": "2020-05-12", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37020321_G_A", "variantRsId": "rs1553647926", "cohortPhenotypes": ["Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000003.12:g.37020321G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001090209", "releaseDate": "2020-05-12", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37020321_G_A", "variantRsId": "rs1553647926", "cohortPhenotypes": ["Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "MONDO_0011450", "variantHgvsId": "NC_000003.12:g.37020321G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001114788", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000111199", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_109786742_C_G", "variantRsId": "rs138986228", "cohortPhenotypes": ["Dysmorphism arthrogryposis skeletal maturation advanced", "Jequier-Kozlowski syndrome", "SMD Kozlowski type", "Skeletal dysplasia Jequier-Kozlowski type", "Spondylometaphyseal dysplasia, Kozlowski type"], "diseaseFromSource": "Spondylometaphyseal dysplasia, Kozlowski type", "diseaseFromSourceId": "C0265280", "diseaseFromSourceMappedId": "MONDO_0008477", "variantHgvsId": "NC_000012.12:g.109786742C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001127077", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000167210", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_46529203_G_A", "variantRsId": "rs200819355", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 77", "Deafness, autosomal recessive 77"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 77", "diseaseFromSourceId": "C2746083", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000018.10:g.46529203G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001129505", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178573906_A_C", "variantRsId": "rs202098308", "cohortPhenotypes": ["EDSTROM MYOPATHY", "Hereditary myopathy with early respiratory failure", "MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT", "Myopathy, distal, with early respiratory failure, autosomal dominant", "Myopathy, myofibrillar, 9, with early respiratory failure"], "diseaseFromSource": "Myopathy, myofibrillar, 9, with early respiratory failure", "diseaseFromSourceId": "C1863599", "diseaseFromSourceMappedId": "Orphanet_178464", "variantHgvsId": "NC_000002.12:g.178573906A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001133205", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178764187_A_C", "variantRsId": "rs142460433", "cohortPhenotypes": ["CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY", "Early-onset myopathy with fatal cardiomyopathy", "Salih Myopathy"], "diseaseFromSource": "Early-onset myopathy with fatal cardiomyopathy", "diseaseFromSourceId": "C2673677", "diseaseFromSourceMappedId": "MONDO_0012714", "variantHgvsId": "NC_000002.12:g.178764187A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001138227", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000101384", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_10648021_C_A", "variantRsId": "rs1337206941", "cohortPhenotypes": ["Isolated Nonsyndromic Congenital Heart Disease"], "diseaseFromSource": "Isolated Nonsyndromic Congenital Heart Disease", "diseaseFromSourceId": "CN239319", "variantHgvsId": "NC_000020.11:g.10648021C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001159488", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000106211", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "7_76302721_G_A", "variantRsId": "rs77586767", "cohortPhenotypes": ["HMN IIB", "NEURONOPATHY, DISTAL HEREDITARY 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"Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000003.12:g.52403846A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001182919", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_112838104_C_T", "variantRsId": "rs79512956", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000005.10:g.112838104C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001188935", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000171862", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "10_87960884_T_C", "variantRsId": "rs1270511778", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000010.11:g.87960884T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001190260", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000096696", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_7585543_G_A", "variantRsId": "rs376751288", "cohortPhenotypes": ["Cardiomyopathies", "Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy", "diseaseFromSourceId": "C0878544", "diseaseFromSourceMappedId": "EFO_0000318", "variantHgvsId": "NC_000006.12:g.7585543G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202908", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240722591_C_T", "variantRsId": "rs767349300", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 30", "diseaseFromSourceId": "C5235139", "diseaseFromSourceMappedId": "MONDO_0012476", "variantHgvsId": "NC_000002.12:g.240722591C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202908", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240722591_C_T", "variantRsId": "rs767349300", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV 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"SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Neuropathy, hereditary sensory, type 2C", "diseaseFromSourceId": "C3280168", "diseaseFromSourceMappedId": "Orphanet_970", "variantHgvsId": "NC_000002.12:g.240722591C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202908", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240722591_C_T", "variantRsId": "rs767349300", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Intellectual disability, autosomal dominant 9", "diseaseFromSourceId": "C5393830", "diseaseFromSourceMappedId": "MONDO_0013656", "variantHgvsId": "NC_000002.12:g.240722591C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202908", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240722591_C_T", "variantRsId": "rs767349300", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal 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"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001219698", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000134086", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_10142092_G_A", "variantRsId": "rs794726890", "cohortPhenotypes": ["Chuvash polycythemia", "Erythrocytosis, familial, 2", "POLYCYTHEMIA, VHL-DEPENDENT", "VHL syndrome", "Von Hippel-Lindau", "Von Hippel-Lindau syndrome"], "diseaseFromSource": "Chuvash polycythemia", "diseaseFromSourceId": "C1837915", "diseaseFromSourceMappedId": "MONDO_0009892", "variantHgvsId": "NC_000003.12:g.10142092G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001219698", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000134086", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_10142092_G_A", "variantRsId": "rs794726890", "cohortPhenotypes": ["Chuvash polycythemia", "Erythrocytosis, familial, 2", "POLYCYTHEMIA, VHL-DEPENDENT", "VHL syndrome", "Von Hippel-Lindau", "Von Hippel-Lindau syndrome"], "diseaseFromSource": "Chuvash polycythemia", "diseaseFromSourceId": "C1837915", "diseaseFromSourceMappedId": "Orphanet_90042", "variantHgvsId": "NC_000003.12:g.10142092G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001219698", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000134086", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_10142092_G_A", "variantRsId": "rs794726890", "cohortPhenotypes": ["Chuvash polycythemia", "Erythrocytosis, familial, 2", "POLYCYTHEMIA, VHL-DEPENDENT", "VHL syndrome", "Von Hippel-Lindau", "Von Hippel-Lindau syndrome"], "diseaseFromSource": "Von Hippel-Lindau syndrome", "diseaseFromSourceId": "C0019562", "diseaseFromSourceMappedId": "MONDO_0008667", "variantHgvsId": "NC_000003.12:g.10142092G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232710", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166199096_C_T", "variantRsId": "rs199705100", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary 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"Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Generalized epilepsy with febrile seizures plus, type 7", "diseaseFromSourceId": "C2751778", "diseaseFromSourceMappedId": "Orphanet_36387", "variantHgvsId": "NC_000002.12:g.166199096C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001236792", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000106617", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_151781271_C_T", "variantRsId": "rs369471907", "cohortPhenotypes": ["GLYCOGEN STORAGE DISEASE OF HEART", "Lethal congenital glycogen storage disease of heart", "PHOSPHORYLASE KINASE DEFICIENCY OF HEART"], "diseaseFromSource": "Lethal congenital glycogen storage disease of heart", "diseaseFromSourceId": "C1849813", "diseaseFromSourceMappedId": "MONDO_0009867", "variantHgvsId": "NC_000007.14:g.151781271C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001236913", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000198707", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_88118527_A_AT", "variantRsId": "rs727503855", "cohortPhenotypes": ["CEREBELLOPARENCHYMAL DISORDER IV", "Cerebelloparenchymal disorder 4", "DYSENCEPHALIA SPLANCHNOCYSTICA", "Dysencephalia splachnocystica", "Familial aplasia of the vermis", "Gruber syndrome", "Joubert syndrome", "Joubert-Boltshauser syndrome", "Meckel-Gruber syndrome", "Nephronophthisis", "juvenile nephronophthisis"], "diseaseFromSource": "Familial aplasia of the vermis", "diseaseFromSourceId": "C0431399", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000012.12:g.88118537dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001236913", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000198707", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_88118527_A_AT", "variantRsId": "rs727503855", "cohortPhenotypes": ["CEREBELLOPARENCHYMAL DISORDER IV", "Cerebelloparenchymal disorder 4", "DYSENCEPHALIA SPLANCHNOCYSTICA", "Dysencephalia splachnocystica", "Familial aplasia of the vermis", "Gruber syndrome", "Joubert syndrome", "Joubert-Boltshauser syndrome", "Meckel-Gruber syndrome", "Nephronophthisis", "juvenile nephronophthisis"], "diseaseFromSource": "Meckel-Gruber syndrome", "diseaseFromSourceId": "C0265215", "diseaseFromSourceMappedId": "MONDO_0018921", "variantHgvsId": "NC_000012.12:g.88118537dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001236913", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000198707", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_88118527_A_AT", "variantRsId": "rs727503855", "cohortPhenotypes": ["CEREBELLOPARENCHYMAL DISORDER IV", "Cerebelloparenchymal disorder 4", "DYSENCEPHALIA SPLANCHNOCYSTICA", "Dysencephalia splachnocystica", "Familial aplasia of the vermis", "Gruber syndrome", "Joubert syndrome", "Joubert-Boltshauser syndrome", "Meckel-Gruber syndrome", "Nephronophthisis", "juvenile nephronophthisis"], "diseaseFromSource": "Nephronophthisis", "diseaseFromSourceId": "C0687120", "diseaseFromSourceMappedId": "MONDO_0019005", "variantHgvsId": "NC_000012.12:g.88118537dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001253978", "releaseDate": "2020-08-21", "targetFromSourceId": "ENSG00000120156", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "9_27206796_A_G", "variantRsId": "rs779970349", "cohortPhenotypes": ["Multiple cutaneous and mucosal venous malformations"], "diseaseFromSource": "Multiple cutaneous and mucosal venous malformations", "diseaseFromSourceId": "C1838437", "diseaseFromSourceMappedId": "Orphanet_2451", "variantHgvsId": "NC_000009.12:g.27206796A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001309369", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000155975", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_17274740_A_G", "variantRsId": "rs371463914", "cohortPhenotypes": ["Hereditary spastic paraplegia 53", "Spastic paraplegia 53, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 53", "diseaseFromSourceId": "C3539494", "diseaseFromSourceMappedId": "Orphanet_319199", "variantHgvsId": "NC_000008.11:g.17274740A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001309755", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000185339", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_30623057_G_C", "variantRsId": "rs4820889", "cohortPhenotypes": ["TC II DEFICIENCY", "TCN2 DEFICIENCY", "Transcobalamin II deficiency", "Transcolabamin II deficiency"], "diseaseFromSource": "Transcobalamin II deficiency", "diseaseFromSourceId": "C0342701", "diseaseFromSourceMappedId": "Orphanet_859", "variantHgvsId": "NC_000022.11:g.30623057G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001320507", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_108229236_G_A", "variantRsId": "rs1412024666", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108229236G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001325854", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000062822", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_50403111_C_G", "variantRsId": "rs759213871", "cohortPhenotypes": ["COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q", "Colorectal cancer 10", "Colorectal cancer, susceptibility to, 10"], "diseaseFromSource": "Colorectal cancer, susceptibility to, 10", "diseaseFromSourceId": "C2675481", "diseaseFromSourceMappedId": "EFO_0005842", "variantHgvsId": "NC_000019.10:g.50403111C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC1-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "diseaseFromSourceId": "C2931072", "diseaseFromSourceMappedId": "Orphanet_257", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC1-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "diseaseFromSourceId": "C2931072", "diseaseFromSourceMappedId": "MONDO_0009181", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC1-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex, Ogna type", "diseaseFromSourceId": "C0432317", "diseaseFromSourceMappedId": "Orphanet_79401", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC1-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5C, with pyloric atresia", "diseaseFromSourceId": "C2677349", "diseaseFromSourceMappedId": "MONDO_0012807", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC1-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5C, with pyloric atresia", "diseaseFromSourceId": "C2677349", "diseaseFromSourceMappedId": "Orphanet_158684", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC1-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Q", "diseaseFromSourceId": "C3150989", "diseaseFromSourceMappedId": "MONDO_0013390", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC1-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Q", "diseaseFromSourceId": "C3150989", "diseaseFromSourceMappedId": "Orphanet_254361", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC1-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex with nail dystrophy", "diseaseFromSourceId": "C4225309", "diseaseFromSourceMappedId": "MONDO_0014661", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001327180", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "13_32332552_G_A", "variantRsId": "rs276174805", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32332552G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001327180", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "13_32332552_G_A", "variantRsId": "rs276174805", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "MONDO_0003582", "variantHgvsId": "NC_000013.11:g.32332552G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001338193", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_43094543_C_T", "variantRsId": "rs397507259", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.43094543C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001338193", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_43094543_C_T", "variantRsId": "rs397507259", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "MONDO_0003582", "variantHgvsId": "NC_000017.11:g.43094543C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001351367", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_2085246_G_T", "variantRsId": "rs769834772", "cohortPhenotypes": ["Tuberous sclerosis 2"], "diseaseFromSource": "Tuberous sclerosis 2", "diseaseFromSourceId": "C1860707", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2085246G>T"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001355172", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000116062", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_47791001_A_G", "variantRsId": "rs587779934", "cohortPhenotypes": ["Cancer breast", "Malignant breast neoplasm", "Malignant tumor of breast"], "diseaseFromSource": "Malignant tumor of breast", "diseaseFromSourceId": "C0006142", "diseaseFromSourceMappedId": "MONDO_0007254", "variantHgvsId": "NC_000002.12:g.47791001A>G"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001355172", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000138081", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_47791001_A_G", "variantRsId": "rs587779934", "cohortPhenotypes": ["Cancer breast", "Malignant breast neoplasm", "Malignant tumor of breast"], "diseaseFromSource": "Malignant tumor of breast", "diseaseFromSourceId": "C0006142", "diseaseFromSourceMappedId": "MONDO_0007254", "variantHgvsId": "NC_000002.12:g.47791001A>G"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001356658", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "13_32336694_C_G", "variantRsId": "rs587781471", "cohortPhenotypes": ["Cancer breast", "Malignant breast neoplasm", "Malignant tumor of breast"], "diseaseFromSource": "Malignant tumor of breast", "diseaseFromSourceId": "C0006142", "diseaseFromSourceMappedId": "MONDO_0007254", "variantHgvsId": "NC_000013.11:g.32336694C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001358788", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000105976", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_116740007_C_T", "variantRsId": "rs771272439", "cohortPhenotypes": ["Renal cell carcinoma"], "diseaseFromSource": "Renal cell carcinoma", "diseaseFromSourceId": "C0007134", "diseaseFromSourceMappedId": "EFO_0000681", "variantHgvsId": "NC_000007.14:g.116740007C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001361224", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000144554", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_10049425_G_A", "variantRsId": "rs761454597", "cohortPhenotypes": ["Fanconi anemia", "Fanconi pancytopenia", "Fanconi's anemia"], "diseaseFromSource": "Fanconi anemia", "diseaseFromSourceId": "C0015625", "diseaseFromSourceMappedId": "MONDO_0019391", "variantHgvsId": "NC_000003.12:g.10049425G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001394372", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_43094826_A_G", "variantRsId": "rs1165432483", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.43094826A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001394372", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_43094826_A_G", "variantRsId": "rs1165432483", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "MONDO_0003582", "variantHgvsId": "NC_000017.11:g.43094826A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407801", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_48421574_G_A", "variantRsId": "rs758353830", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Marfan syndrome", "diseaseFromSourceId": "C0024796", "diseaseFromSourceMappedId": "MONDO_0007947", "variantHgvsId": "NC_000015.10:g.48421574G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407801", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_48421574_G_A", "variantRsId": "rs758353830", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "EFO_0009299", "variantHgvsId": "NC_000015.10:g.48421574G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407801", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_48421574_G_A", "variantRsId": "rs758353830", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "Orphanet_285014", "variantHgvsId": "NC_000015.10:g.48421574G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001419888", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000118046", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_1223033_A_C", "variantRsId": "rs1399205535", "cohortPhenotypes": ["Lentiginosis, perioral", "Periorificial lentiginosis syndrome", "Peutz-Jeghers polyposis", "Peutz-Jeghers syndrome", "Polyposis, hamartomatous intestinal", "Polyps-and-spots syndrome"], "diseaseFromSource": "Peutz-Jeghers syndrome", "diseaseFromSourceId": "C0031269", "diseaseFromSourceMappedId": "MONDO_0008280", "variantHgvsId": "NC_000019.10:g.1223033A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001422989", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000139687", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "13_48379596_A_T", "variantRsId": "rs757748029", "cohortPhenotypes": ["Eye cancer, retinoblastoma", "RETINOBLASTOMA, SOMATIC", "Retinoblastoma"], "diseaseFromSource": "Retinoblastoma", "diseaseFromSourceId": "C0035335", "diseaseFromSourceMappedId": "MONDO_0008380", "variantHgvsId": "NC_000013.11:g.48379596A>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001424172", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000197283", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_33435296_C_T", "variantRsId": "rs542048435", "cohortPhenotypes": ["INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5", "Intellectual disability, autosomal dominant 5"], "diseaseFromSource": "Intellectual disability, autosomal dominant 5", "diseaseFromSourceId": "C2675473", "variantHgvsId": "NC_000006.12:g.33435296C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001427085", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000196569", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_129288036_A_G", "cohortPhenotypes": ["LAMA2-related muscular dystrophy", "Laminin alpha 2-related dystrophy"], "diseaseFromSource": "LAMA2-related muscular dystrophy", "diseaseFromSourceId": "CN117977", "diseaseFromSourceMappedId": "MONDO_0100228", "variantHgvsId": "NC_000006.12:g.129288036A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001427085", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000196569", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_129288036_A_G", "cohortPhenotypes": ["LAMA2-related muscular dystrophy", "Laminin alpha 2-related dystrophy"], "diseaseFromSource": "LAMA2-related muscular dystrophy", "diseaseFromSourceId": "CN117977", "diseaseFromSourceMappedId": "EFO_0009138", "variantHgvsId": "NC_000006.12:g.129288036A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001427262", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000039068", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_68811766_C_T", "variantRsId": "rs1057522178", "cohortPhenotypes": ["DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME", "GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR", "Hereditary diffuse gastric adenocarcinoma", "Hereditary diffuse gastric cancer"], "diseaseFromSource": "Hereditary diffuse gastric adenocarcinoma", "diseaseFromSourceId": "C1708349", "diseaseFromSourceMappedId": "MONDO_0007648", "variantHgvsId": "NC_000016.10:g.68811766C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001427262", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000039068", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_68811766_C_T", "variantRsId": "rs1057522178", "cohortPhenotypes": ["DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME", "GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR", "Hereditary diffuse gastric adenocarcinoma", "Hereditary diffuse gastric cancer"], "diseaseFromSource": "Hereditary diffuse gastric adenocarcinoma", "diseaseFromSourceId": "C1708349", "diseaseFromSourceMappedId": "Orphanet_26106", "variantHgvsId": "NC_000016.10:g.68811766C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001429981", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000105227", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_40397704_T_C", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 4", "Charcot-Marie-Tooth, Type 4"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4", "diseaseFromSourceId": "C4082197", "diseaseFromSourceMappedId": "MONDO_0018995", "variantHgvsId": "NC_000019.10:g.40397704T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001425620", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000197943", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_81786077_G_T", "variantRsId": "rs372502550", "cohortPhenotypes": ["ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED", "FAMILIAL ATYPICAL COLD URTICARIA", "Familial cold autoinflammatory syndrome 3"], "diseaseFromSource": "Familial cold autoinflammatory syndrome 3", "diseaseFromSourceId": "C3280914", "diseaseFromSourceMappedId": "Orphanet_247868", "variantHgvsId": "NC_000016.10:g.81786077G>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001430879", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000081248", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_201062066_G_A", "variantRsId": "rs374912997", "cohortPhenotypes": ["HypoPP", "Hypokalemic periodic paralysis, type 1", "Malignant hyperpyrexia susceptibility type 5", "Malignant hyperthermia susceptibility type 5", "Malignant hyperthermia, susceptibility to, 5"], "diseaseFromSource": "Hypokalemic periodic paralysis, type 1", "diseaseFromSourceId": "C3714580", "variantHgvsId": "NC_000001.11:g.201062066G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001430879", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000081248", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_201062066_G_A", "variantRsId": "rs374912997", "cohortPhenotypes": ["HypoPP", "Hypokalemic periodic paralysis, type 1", "Malignant hyperpyrexia susceptibility type 5", "Malignant hyperthermia susceptibility type 5", "Malignant hyperthermia, susceptibility to, 5"], "diseaseFromSource": "Malignant hyperthermia, susceptibility to, 5", "diseaseFromSourceId": "C1866077", "diseaseFromSourceMappedId": "MONDO_0011163", "variantHgvsId": "NC_000001.11:g.201062066G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001430879", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000081248", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_201062066_G_A", "variantRsId": "rs374912997", "cohortPhenotypes": ["HypoPP", "Hypokalemic periodic paralysis, type 1", "Malignant hyperpyrexia susceptibility type 5", "Malignant hyperthermia susceptibility type 5", "Malignant hyperthermia, susceptibility to, 5"], "diseaseFromSource": "Malignant hyperthermia, susceptibility to, 5", "diseaseFromSourceId": "C1866077", "diseaseFromSourceMappedId": "EFO_0009071", "variantHgvsId": "NC_000001.11:g.201062066G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001454495", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000129757", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "11_2884860_G_GGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCC", "cohortPhenotypes": ["Beckwith-Wiedemann syndrome", "EMG Syndrome", "Exomphalos macroglossia gigantism syndrome"], "diseaseFromSource": "Beckwith-Wiedemann syndrome", "diseaseFromSourceId": "C0004903", "diseaseFromSourceMappedId": "MONDO_0007534", "variantHgvsId": "NC_000011.10:g.2884866CGGGGC[10]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001464352", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000203867", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_110781819_G_A", "cohortPhenotypes": ["Dilated cardiomyopathy 1DD"], "diseaseFromSource": "Dilated cardiomyopathy 1DD", "diseaseFromSourceId": "C2750995", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000010.11:g.110781819G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001466478", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000187566", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_18122583_G_A", "cohortPhenotypes": ["EPILEPSY, PROGRESSIVE MYOCLONIC, 2A", "Epilepsy progressive myoclonic 2", "Lafora body disorder", "Lafora disease", "Myoclonic epilepsy of Lafora"], "diseaseFromSource": "Lafora disease", "diseaseFromSourceId": "C0751783", "diseaseFromSourceMappedId": "MONDO_0009697", "variantHgvsId": "NC_000006.12:g.18122583G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001473025", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154359501_C_T", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Heterotopia, periventricular, X-linked dominant", "diseaseFromSourceId": "C1848213", "diseaseFromSourceMappedId": "MONDO_0010233", "variantHgvsId": "NC_000023.11:g.154359501C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001473025", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154359501_C_T", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Heterotopia, periventricular, X-linked dominant", "diseaseFromSourceId": "C1848213", "diseaseFromSourceMappedId": "Orphanet_98892", "variantHgvsId": "NC_000023.11:g.154359501C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001473025", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154359501_C_T", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Melnick-Needles syndrome", "diseaseFromSourceId": "C0025237", "diseaseFromSourceMappedId": "Orphanet_2484", "variantHgvsId": "NC_000023.11:g.154359501C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001473025", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154359501_C_T", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Oto-palato-digital syndrome, type II", "diseaseFromSourceId": "C1844696", "diseaseFromSourceMappedId": "MONDO_0010571", "variantHgvsId": "NC_000023.11:g.154359501C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001473025", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154359501_C_T", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Frontometaphyseal dysplasia", "diseaseFromSourceId": "C0265293", "diseaseFromSourceMappedId": "MONDO_0015942", "variantHgvsId": "NC_000023.11:g.154359501C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001479417", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000165282", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_35094253_T_C", "cohortPhenotypes": ["GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6", "Hyperphosphatasia with intellectual disability syndrome 2"], "diseaseFromSource": "Hyperphosphatasia with intellectual disability syndrome 2", "diseaseFromSourceId": "C3553637", "variantHgvsId": "NC_000009.12:g.35094253T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001479696", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000168542", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_189010227_G_A", "variantRsId": "rs1688690801", "cohortPhenotypes": ["Ehlers Danlos syndrome, Sack-Barabas type", "Ehlers Danlos syndrome, arterial type", "Ehlers Danlos syndrome, ecchymotic type", "Ehlers-Danlos Syndrome Type IV", "Ehlers-Danlos syndrome vascular type", "Ehlers-Danlos syndrome, type 4"], "diseaseFromSource": "Ehlers-Danlos syndrome, type 4", "diseaseFromSourceId": "C0268338", "diseaseFromSourceMappedId": "MONDO_0017314", "variantHgvsId": "NC_000002.12:g.189010227G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001489150", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000038002", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "4_177438735_G_A", "cohortPhenotypes": ["AGA deficiency", "Aspartylglucos-amidase (AGA) deficiency", "Aspartylglucos-aminuria", "Aspartylglucosaminuria", "Aspartylglycosaminuria", "GLYCOASPARAGINASE", "Glycosylasparaginase deficiency"], "diseaseFromSource": "Aspartylglucosaminuria", "diseaseFromSourceId": "C0268225", "diseaseFromSourceMappedId": "MONDO_0008830", "variantHgvsId": "NC_000004.12:g.177438735G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001493569", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000167895", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_78140898_G_A", "cohortPhenotypes": ["Epidermodysplasia verruciformis"], "diseaseFromSource": "Epidermodysplasia verruciformis", "diseaseFromSourceId": "C0014522", "diseaseFromSourceMappedId": "MONDO_0009176", "variantHgvsId": "NC_000017.11:g.78140898G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001495057", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000139174", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_42464792_A_G", "cohortPhenotypes": ["Epilepsy, progressive myoclonic, 1B", "PME", "PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia", "Progressive myoclonus epilepsy with ataxia"], "diseaseFromSource": "Epilepsy, progressive myoclonic, 1B", "diseaseFromSourceId": "C2676254", "diseaseFromSourceMappedId": "Orphanet_308", "variantHgvsId": "NC_000012.12:g.42464792A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001499491", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000122218", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_160291371_T_C", "cohortPhenotypes": ["Autoimmune interstitial lung disease-arthritis syndrome", "Autoimmune interstitial lung, joint, and kidney disease"], "diseaseFromSource": "Autoimmune interstitial lung disease-arthritis syndrome", "diseaseFromSourceId": "C4225334", "diseaseFromSourceMappedId": "MONDO_0014629", "variantHgvsId": "NC_000001.11:g.160291371T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001499491", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000122218", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_160291371_T_C", "cohortPhenotypes": ["Autoimmune interstitial lung disease-arthritis syndrome", "Autoimmune interstitial lung, joint, and kidney disease"], "diseaseFromSource": "Autoimmune interstitial lung disease-arthritis syndrome", "diseaseFromSourceId": "C4225334", "diseaseFromSourceMappedId": "EFO_0004244", "variantHgvsId": "NC_000001.11:g.160291371T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001829854", "releaseDate": "2022-05-16", "targetFromSourceId": "ENSG00000081052", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "2_227094124_C_T", "variantRsId": "rs1553676230", "cohortPhenotypes": ["Alport syndrome", "Congenital hereditary hematuria", "Hemorrhagic familial nephritis", "Hemorrhagic hereditary nephritis"], "diseaseFromSource": "Alport syndrome", "diseaseFromSourceId": "C1567741", "diseaseFromSourceMappedId": "MONDO_0018965", "variantHgvsId": "NC_000002.12:g.227094124C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19405096"], "studyId": "RCV000003131", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000166311", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_6393961_A_C", "variantRsId": "rs267607074", "cohortPhenotypes": ["ACID SPHINGOMYELINASE DEFICIENCY, NEUROVISCERAL TYPE", "ASMD, NEUROVISCERAL TYPE", "Niemann-Pick disease, type A", "SPHINGOMYELIN LIPIDOSIS", "SPHINGOMYELINASE DEFICIENCY"], "diseaseFromSource": "Niemann-Pick disease, type A", "diseaseFromSourceId": "C0268242", "diseaseFromSourceMappedId": "MONDO_0009756", "variantHgvsId": "NC_000011.10:g.6393961A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["11297544", "1684223", "23847139", "8202715"], "studyId": "RCV000014051", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000112619", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_42721781_A_G", "variantRsId": "rs121918563", "cohortPhenotypes": ["Retinitis pigmentosa 7, digenic"], "diseaseFromSource": "Retinitis pigmentosa 7, digenic", "diseaseFromSourceId": "C2675552", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000006.12:g.42721781A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000034185", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000104133", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "15_44628785_G_A", "variantRsId": "rs199588440", "cohortPhenotypes": ["Autosomal recessive hereditary spastic paraplegia, mental impairment, and thin corpus callosum", "Hereditary spastic paraplegia 11", "Hereditary spastic paraplegia mental impairment and thin corpus callosum", "Nakamura Osame syndrome", "SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, COMPLICATED, WITH THIN CORPUS CALLOSUM", "SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM", "Spastic paraplegia 11", "Spastic paraplegia 11, autosomal recessive", "Spastic paraplegia, mental retardation and thin corpus callosum"], "diseaseFromSource": "Hereditary spastic paraplegia 11", "diseaseFromSourceId": "C1858479", "diseaseFromSourceMappedId": "MONDO_0011445", "variantHgvsId": "NC_000015.10:g.44628785G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000034185", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000104133", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "15_44628785_G_A", "variantRsId": "rs199588440", "cohortPhenotypes": ["Autosomal recessive hereditary spastic paraplegia, mental impairment, and thin corpus callosum", "Hereditary spastic paraplegia 11", "Hereditary spastic paraplegia mental impairment and thin corpus callosum", "Nakamura Osame syndrome", "SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, COMPLICATED, WITH THIN CORPUS CALLOSUM", "SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM", "Spastic paraplegia 11", "Spastic paraplegia 11, autosomal recessive", "Spastic paraplegia, mental retardation and thin corpus callosum"], "diseaseFromSource": "Hereditary spastic paraplegia 11", "diseaseFromSourceId": "C1858479", "diseaseFromSourceMappedId": "Orphanet_685", "variantHgvsId": "NC_000015.10:g.44628785G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000131784", "releaseDate": "2014-08-06", "targetFromSourceId": "ENSG00000113522", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_132591266_A_G", "variantRsId": "rs587782563", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000005.10:g.132591266A>G"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV000132814", "releaseDate": "2014-08-17", "targetFromSourceId": "ENSG00000169057", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "X_154029506_A_C", "variantRsId": "rs187614438", "cohortPhenotypes": ["Austism susceptibility, X-linked", "Autism susceptibility, X-linked 3", "Autism, susceptibility to, X-linked 3"], "diseaseFromSource": "Autism, susceptibility to, X-linked 3", "diseaseFromSourceId": "C1845336", "diseaseFromSourceMappedId": "EFO_0003758", "variantHgvsId": "NC_000023.11:g.154029506A>C"} -{"alleleOrigins": ["maternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000162201", "releaseDate": "2015-03-16", "targetFromSourceId": "ENSG00000102081", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "X_147912049_C_CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG", "variantRsId": "rs193922936", "cohortPhenotypes": ["FRAGILE X MENTAL RETARDATION SYNDROME", "Fra(X) syndrome", "Fragile X syndrome", "Fragile X syndrome, type A", "MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28", "Marker X syndrome", "Martin-Bell syndrome", "X-linked mental retardation and macroorchidism"], "diseaseFromSource": "Fragile X syndrome", "diseaseFromSourceId": "C0016667", "diseaseFromSourceMappedId": "MONDO_0010383", "variantHgvsId": "NC_000023.11:g.147912051CGG[201]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000204855", "releaseDate": "2016-01-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_178713381_T_TACAAAACAAAACAAAACAAA", "variantRsId": "rs71393436", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Dilated cardiomyopathy 1G", "diseaseFromSourceId": "C1858763", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000002.12:g.178713383CAAAA[10]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000204855", "releaseDate": "2016-01-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_178713381_T_TACAAAACAAAACAAAACAAA", "variantRsId": "rs71393436", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "MONDO_0012127", "variantHgvsId": "NC_000002.12:g.178713383CAAAA[10]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000204855", "releaseDate": "2016-01-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_178713381_T_TACAAAACAAAACAAAACAAA", "variantRsId": "rs71393436", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.178713383CAAAA[10]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000240662", "releaseDate": "2016-09-11", "targetFromSourceId": "ENSG00000132740", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_68933854_C_T", "variantRsId": "rs780594709", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S", "Charcot-Marie-Tooth disease axonal type 2S"], "diseaseFromSource": "Charcot-Marie-Tooth disease axonal type 2S", "diseaseFromSourceId": "C4015349", "variantHgvsId": "NC_000011.10:g.68933854C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000258143", "releaseDate": "2016-11-05", "targetFromSourceId": "ENSG00000171316", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_60862317_A_G", "variantRsId": "rs780161032", "cohortPhenotypes": ["CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES", "CHARGE association", "CHARGE syndrome", "Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies", "Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation", "Hall-Hittner syndrome", "Hittner Hirsch Kreh syndrome"], "diseaseFromSource": "CHARGE association", "diseaseFromSourceId": "C0265354", "diseaseFromSourceMappedId": "MONDO_0008965", "variantHgvsId": "NC_000008.11:g.60862317A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000262741", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_178713381_T_TACAAAACAAAACAAA", "variantRsId": "rs71393436", "cohortPhenotypes": ["Early-onset myopathy with fatal cardiomyopathy", "Salih Myopathy"], "diseaseFromSource": "Early-onset myopathy with fatal cardiomyopathy", "diseaseFromSourceId": "C2673677", "diseaseFromSourceMappedId": "MONDO_0012714", "variantHgvsId": "NC_000002.12:g.178713383CAAAA[9]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000297988", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000142156", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "21_45990405_G_A", "variantRsId": "rs200835287", "cohortPhenotypes": ["Collagen 6-related myopathy", "Collagen VI-related myopathy"], "diseaseFromSource": "Collagen 6-related myopathy", "diseaseFromSourceId": "CN117976", "diseaseFromSourceMappedId": "MONDO_0100225", "variantHgvsId": "NC_000021.9:g.45990405G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001442253", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000055118", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "7_150947399_G_A", "variantRsId": "rs1438907234", "cohortPhenotypes": ["Long QT syndrome"], "diseaseFromSource": "Long QT syndrome", "diseaseFromSourceId": "C0023976", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000007.14:g.150947399G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001450487", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_37011847_T_C", "variantRsId": "rs754102133", "cohortPhenotypes": ["Hereditary nonpolyposis colorectal neoplasms"], "diseaseFromSource": "Hereditary nonpolyposis colorectal neoplasms", "diseaseFromSourceId": "C0009405", "diseaseFromSourceMappedId": "EFO_0009911", "variantHgvsId": "NC_000003.12:g.37011847T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001457218", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000184470", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "22_19918970_G_A", "variantRsId": "rs575321083", "cohortPhenotypes": ["Dilated Cardiomyopathy", "Primary dilated cardiomyopathy"], "diseaseFromSource": "Primary dilated cardiomyopathy", "diseaseFromSourceId": "C0007193", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000022.11:g.19918970G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001472009", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "14_23415841_C_G", "variantRsId": "rs1892178883", "cohortPhenotypes": ["HYPERTROPHIC MYOCARDIOPATHY", "Hypertrophic cardiomyopathy"], "diseaseFromSource": "Hypertrophic cardiomyopathy", "diseaseFromSourceId": "C0007194", "diseaseFromSourceMappedId": "EFO_0000538", "variantHgvsId": "NC_000014.9:g.23415841C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001473659", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000174775", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_534307_G_A", "variantRsId": "rs763376142", "cohortPhenotypes": ["Costello syndrome", "FCS syndrome", "Faciocutaneoskeletal syndrome"], "diseaseFromSource": "Costello syndrome", "diseaseFromSourceId": "C0587248", "diseaseFromSourceMappedId": "MONDO_0009026", "variantHgvsId": "NC_000011.10:g.534307G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001474561", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154354843_G_A", "variantRsId": "rs782086308", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 1", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "X-linked periventricular heterotopia"], "diseaseFromSource": "Heterotopia, periventricular, X-linked dominant", "diseaseFromSourceId": "C1848213", "diseaseFromSourceMappedId": "MONDO_0010233", "variantHgvsId": "NC_000023.11:g.154354843G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001474561", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154354843_G_A", "variantRsId": "rs782086308", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 1", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "X-linked periventricular heterotopia"], "diseaseFromSource": "Heterotopia, periventricular, X-linked dominant", "diseaseFromSourceId": "C1848213", "diseaseFromSourceMappedId": "Orphanet_98892", "variantHgvsId": "NC_000023.11:g.154354843G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001474561", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154354843_G_A", "variantRsId": "rs782086308", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 1", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "X-linked periventricular heterotopia"], "diseaseFromSource": "Melnick-Needles syndrome", "diseaseFromSourceId": "C0025237", "diseaseFromSourceMappedId": "Orphanet_2484", "variantHgvsId": "NC_000023.11:g.154354843G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001474561", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154354843_G_A", "variantRsId": "rs782086308", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 1", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "X-linked periventricular heterotopia"], "diseaseFromSource": "Oto-palato-digital syndrome, type II", "diseaseFromSourceId": "C1844696", "diseaseFromSourceMappedId": "MONDO_0010571", "variantHgvsId": "NC_000023.11:g.154354843G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001474561", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154354843_G_A", "variantRsId": "rs782086308", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 1", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "X-linked periventricular heterotopia"], "diseaseFromSource": "Frontometaphyseal dysplasia", "diseaseFromSourceId": "C0265293", "diseaseFromSourceMappedId": "MONDO_0015942", "variantHgvsId": "NC_000023.11:g.154354843G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001479696", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000168542", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_189010227_G_A", "variantRsId": "rs1688690801", "cohortPhenotypes": ["Ehlers Danlos syndrome, Sack-Barabas type", "Ehlers Danlos syndrome, arterial type", "Ehlers Danlos syndrome, ecchymotic type", "Ehlers-Danlos Syndrome Type IV", "Ehlers-Danlos syndrome vascular type", "Ehlers-Danlos syndrome, type 4"], "diseaseFromSource": "Ehlers-Danlos syndrome, type 4", "diseaseFromSourceId": "C0268338", "diseaseFromSourceMappedId": "MONDO_0017314", "variantHgvsId": "NC_000002.12:g.189010227G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001498770", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000126091", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_43920904_C_T", "variantRsId": "rs149000966", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000001.11:g.43920904C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001498770", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000126091", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_43920904_C_T", "variantRsId": "rs149000966", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000001.11:g.43920904C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001525476", "releaseDate": "2021-06-19", "targetFromSourceId": "ENSG00000046604", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "18_31521110_C_T", "variantRsId": "rs369489095", "cohortPhenotypes": ["Cardiomyopathies", "Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy", "diseaseFromSourceId": "C0878544", "diseaseFromSourceMappedId": "EFO_0000318", "variantHgvsId": "NC_000018.10:g.31521110C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001782803", "releaseDate": "2021-11-29", "targetFromSourceId": "ENSG00000167207", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_50710770_C_T", "variantRsId": "rs560242309", "cohortPhenotypes": ["INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1", "Inflammatory bowel disease 1", "Inflammatory bowel disease 1, Crohn disease"], "diseaseFromSource": "Inflammatory bowel disease 1", "diseaseFromSourceId": "CN260071", "diseaseFromSourceMappedId": "EFO_0000384", "variantHgvsId": "NC_000016.10:g.50710770C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001782803", "releaseDate": "2021-11-29", "targetFromSourceId": "ENSG00000167207", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_50710770_C_T", "variantRsId": "rs560242309", "cohortPhenotypes": ["INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1", "Inflammatory bowel disease 1", "Inflammatory bowel disease 1, Crohn disease"], "diseaseFromSource": "Inflammatory bowel disease 1", "diseaseFromSourceId": "CN260071", "diseaseFromSourceMappedId": "EFO_0000729", "variantHgvsId": "NC_000016.10:g.50710770C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["drug response"], "confidence": "reviewed by expert panel", "studyId": "RCV001787325", "releaseDate": "2021-12-12", "targetFromSourceId": "ENSG00000134538", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_21178615_T_C", "variantRsId": "rs4149056", "cohortPhenotypes": ["simvastatin response - Toxicity"], "diseaseFromSource": "simvastatin response - Toxicity", "variantHgvsId": "NC_000012.12:g.21178615T>C"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001787340", "releaseDate": "2021-12-12", "targetFromSourceId": "ENSG00000187049", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_61393907_GCTAAC_G", "variantRsId": "rs1554972556", "cohortPhenotypes": ["Cerebellooculorenal syndrome 2", "Joubert syndrome 2", "MECKEL-GRUBER SYNDROME, TYPE 2", "MKS2-Related Meckel Syndrome", "Meckel syndrome, type 2"], "diseaseFromSource": "Joubert syndrome 2", "diseaseFromSourceId": "C1842577", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000011.10:g.61393911_61393915del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001787340", "releaseDate": "2021-12-12", "targetFromSourceId": "ENSG00000187049", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_61393907_GCTAAC_G", "variantRsId": "rs1554972556", "cohortPhenotypes": ["Cerebellooculorenal syndrome 2", "Joubert syndrome 2", "MECKEL-GRUBER SYNDROME, TYPE 2", "MKS2-Related Meckel Syndrome", "Meckel syndrome, type 2"], "diseaseFromSource": "Meckel syndrome, type 2", "diseaseFromSourceId": "C1864148", "diseaseFromSourceMappedId": "MONDO_0018921", "variantHgvsId": "NC_000011.10:g.61393911_61393915del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001798871", "releaseDate": "2021-12-29", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37004437_A_G", "variantRsId": "rs371667663", "cohortPhenotypes": ["Breast and/or ovarian cancer"], "diseaseFromSource": "Breast and/or ovarian cancer", "diseaseFromSourceId": "CN221562", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000003.12:g.37004437A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001807043", "releaseDate": "2022-01-12", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_156829362_A_G", "variantRsId": "rs17318151", "cohortPhenotypes": ["Coffin-Siris syndrome 1", "Mental retardation, autosomal dominant 12"], "diseaseFromSource": "Coffin-Siris syndrome 1", "diseaseFromSourceId": "C3281201", "diseaseFromSourceMappedId": "MONDO_0015452", "variantHgvsId": "NC_000006.12:g.156829362A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001824739", "releaseDate": "2022-02-13", "targetFromSourceId": "ENSG00000084754", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "2_26190873_GAC_G", "variantRsId": "rs886055861", "cohortPhenotypes": ["Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase", "LCHAD Deficiency", "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C3711645", "diseaseFromSourceMappedId": "Orphanet_5", "variantHgvsId": "NC_000002.12:g.26190875CA[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001824739", "releaseDate": "2022-02-13", "targetFromSourceId": "ENSG00000084754", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "2_26190873_GAC_G", "variantRsId": "rs886055861", "cohortPhenotypes": ["Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase", "LCHAD Deficiency", "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C3711645", "diseaseFromSourceMappedId": "MONDO_0012173", "variantHgvsId": "NC_000002.12:g.26190875CA[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001828141", "releaseDate": "2022-02-13", "targetFromSourceId": "ENSG00000198947", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_31478117_C_T", "variantRsId": "rs142128738", "cohortPhenotypes": ["Becker muscular dystrophy", "Becker's muscular dystrophy", "Benign pseudohypertrophic 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"diseaseFromSource": "Cardiomyopathy", "diseaseFromSourceId": "C0878544", "diseaseFromSourceMappedId": "EFO_0000318", "variantHgvsId": "NC_000023.11:g.31478117C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001831355", "releaseDate": "2022-02-13", "targetFromSourceId": "ENSG00000277027", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "9_35658027_A_AGCTTCACAGAGTAGTGCTTCACAGAGTAGT", "variantRsId": "rs727502776", "cohortPhenotypes": ["Cartilage-Hair Hypoplasia", "Metaphyseal chondrodysplasia, McKusick type"], "diseaseFromSource": "Metaphyseal chondrodysplasia, McKusick type", "diseaseFromSourceId": "C0220748", "diseaseFromSourceMappedId": "MONDO_0009595", "variantHgvsId": "NC_000009.11:g.35658025_35658039[3]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV001831436", "releaseDate": "2022-02-13", "targetFromSourceId": "ENSG00000198947", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_32816602_T_C", "variantRsId": "rs1421854333", "cohortPhenotypes": ["Becker muscular dystrophy", "Becker's muscular dystrophy", "Benign pseudohypertrophic muscular dystrophy", "Cardiomyopathies", "Cardiomyopathy", "Duchenne muscular dystrophy", "Dystrophin deficiency", "Muscular dystrophy pseudohypertrophic progressive, Becker type", "Muscular dystrophy, pseudohypertrophic progressive, Duchenne type"], "diseaseFromSource": "Dystrophin deficiency", "variantHgvsId": "NC_000023.11:g.32816602T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV001831436", "releaseDate": "2022-02-13", 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"variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_32816602_T_C", "variantRsId": "rs1421854333", "cohortPhenotypes": ["Becker muscular dystrophy", "Becker's muscular dystrophy", "Benign pseudohypertrophic muscular dystrophy", "Cardiomyopathies", "Cardiomyopathy", "Duchenne muscular dystrophy", "Dystrophin deficiency", "Muscular dystrophy pseudohypertrophic progressive, Becker type", "Muscular dystrophy, pseudohypertrophic progressive, Duchenne type"], "diseaseFromSource": "Duchenne muscular dystrophy", "diseaseFromSourceId": "C0013264", "diseaseFromSourceMappedId": "MONDO_0010679", "variantHgvsId": "NC_000023.11:g.32816602T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV001831436", "releaseDate": "2022-02-13", "targetFromSourceId": "ENSG00000198947", "variantFunctionalConsequenceId": "SO_0001819", "variantId": 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["Cardiac arrhythmia", "Cardiac rhythm disease"], "diseaseFromSource": "Cardiac arrhythmia", "diseaseFromSourceId": "C0003811", "diseaseFromSourceMappedId": "EFO_0004269", "variantHgvsId": "NC_000017.11:g.8289817G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001841185", "releaseDate": "2022-03-05", "targetFromSourceId": "ENSG00000125434", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_8289817_G_C", "variantRsId": "rs1990342112", "cohortPhenotypes": ["Cardiac arrhythmia", "Cardiac rhythm disease"], "diseaseFromSource": "Cardiac arrhythmia", "diseaseFromSourceId": "C0003811", "diseaseFromSourceMappedId": "EFO_0004269", "variantHgvsId": "NC_000017.11:g.8289817G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain 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"diseaseFromSourceId": "C0427144", "diseaseFromSourceMappedId": "HP_0030051", "variantHgvsId": "NC_000005.10:g.149026872G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001851761", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000204217", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_202552774_G_A", "variantRsId": "rs137852749", "cohortPhenotypes": ["Primary pulmonary hypertension"], "diseaseFromSource": "Primary pulmonary hypertension", "diseaseFromSourceId": "C0152171", "diseaseFromSourceMappedId": "MONDO_0017147", "variantHgvsId": "NC_000002.12:g.202552774G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001852052", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000105711", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_35039684_G_A", "variantRsId": "rs77106213", "cohortPhenotypes": ["Brugada syndrome 5"], "diseaseFromSource": "Brugada syndrome 5", "diseaseFromSourceId": "C2748541", "diseaseFromSourceMappedId": "MONDO_0015263", "variantHgvsId": "NC_000019.10:g.35039684G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001860713", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000165699", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_132905935_G_A", "variantRsId": "rs1588310178", "cohortPhenotypes": ["Tuberous sclerosis 1"], "diseaseFromSource": "Tuberous sclerosis 1", "diseaseFromSourceId": "C1854465", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000009.12:g.132905935G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001860782", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61743089_C_A", "variantRsId": "rs1603303846", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000017.11:g.61743089C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001860782", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61743089_C_A", "variantRsId": "rs1603303846", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Fanconi anemia complementation group J", "diseaseFromSourceId": "C1836860", "diseaseFromSourceMappedId": "MONDO_0012187", "variantHgvsId": "NC_000017.11:g.61743089C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001865311", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "11_108243952_G_A", "variantRsId": "rs778624615", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108243952G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001867880", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_32380118_T_C", "variantRsId": "rs1555288568", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32380118T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001867880", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_32380118_T_C", "variantRsId": "rs1555288568", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "MONDO_0003582", "variantHgvsId": "NC_000013.11:g.32380118T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001904797", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000054523", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "1_10376541_A_G", "variantRsId": "rs904332359", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 2", "Charcot-Marie-Tooth, Type 2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2", "diseaseFromSourceId": "C0270914", "diseaseFromSourceMappedId": "MONDO_0018993", "variantHgvsId": "NC_000001.11:g.10376541A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001913088", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000105976", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_116699900_G_C", "variantRsId": "rs1168091854", "cohortPhenotypes": ["Renal cell carcinoma"], "diseaseFromSource": "Renal cell carcinoma", "diseaseFromSourceId": "C0007134", "diseaseFromSourceMappedId": "EFO_0000681", "variantHgvsId": "NC_000007.14:g.116699900G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001959159", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000134480", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "5_87379766_A_ATGTGAACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC", "cohortPhenotypes": ["Capillary malformation-arteriovenous malformation", "Capillary malformation-arteriovenous malformation syndrome"], "diseaseFromSource": "Capillary malformation-arteriovenous malformation syndrome", "diseaseFromSourceId": "C1842180", "diseaseFromSourceMappedId": "Orphanet_137667", "variantHgvsId": "NC_000005.10:g.87379767_87379781TG[2]AACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGTGAACACTAATTT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001959159", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000145715", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "5_87379766_A_ATGTGAACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC", "cohortPhenotypes": ["Capillary malformation-arteriovenous malformation", "Capillary malformation-arteriovenous malformation syndrome"], "diseaseFromSource": "Capillary malformation-arteriovenous malformation syndrome", "diseaseFromSourceId": "C1842180", "diseaseFromSourceMappedId": "Orphanet_137667", "variantHgvsId": "NC_000005.10:g.87379767_87379781TG[2]AACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGTGAACACTAATTT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001959159", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000134480", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "5_87379766_A_ATGTGAACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC", "cohortPhenotypes": ["Capillary malformation-arteriovenous malformation", "Capillary malformation-arteriovenous malformation syndrome"], "diseaseFromSource": "Capillary malformation-arteriovenous malformation syndrome", "diseaseFromSourceId": "C1842180", "diseaseFromSourceMappedId": "MONDO_0012016", "variantHgvsId": "NC_000005.10:g.87379767_87379781TG[2]AACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGTGAACACTAATTT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001959159", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000145715", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "5_87379766_A_ATGTGAACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC", "cohortPhenotypes": ["Capillary malformation-arteriovenous malformation", "Capillary malformation-arteriovenous malformation syndrome"], "diseaseFromSource": "Capillary malformation-arteriovenous malformation syndrome", "diseaseFromSourceId": "C1842180", "diseaseFromSourceMappedId": "MONDO_0012016", "variantHgvsId": "NC_000005.10:g.87379767_87379781TG[2]AACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGTGAACACTAATTT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002011699", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000001630", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "7_92097231_A_T", "variantRsId": "rs1397831091", "cohortPhenotypes": ["Long QT syndrome"], "diseaseFromSource": "Long QT syndrome", "diseaseFromSourceId": "C0023976", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000007.14:g.92097231A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002011699", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000127914", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_92097231_A_T", "variantRsId": "rs1397831091", "cohortPhenotypes": ["Long QT syndrome"], "diseaseFromSource": "Long QT syndrome", "diseaseFromSourceId": "C0023976", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000007.14:g.92097231A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002022033", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000177084", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_132659463_T_A", "variantRsId": "rs2138678125", "cohortPhenotypes": ["COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24", "Colorectal cancer, susceptibility to, 12"], "diseaseFromSource": "Colorectal cancer, susceptibility to, 12", "diseaseFromSourceId": "C3554460", "diseaseFromSourceMappedId": "MONDO_0016362", "variantHgvsId": "NC_000012.12:g.132659463T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002033542", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000181192", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_12101135_A_C", "variantRsId": "rs773859468", "cohortPhenotypes": ["2-aminoadipic 2-oxoadipic aciduria", "ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA", "Aminoadipic aciduria"], "diseaseFromSource": "2-aminoadipic 2-oxoadipic aciduria", "diseaseFromSourceId": "C1859817", "diseaseFromSourceMappedId": "MONDO_0008774", "variantHgvsId": "NC_000010.11:g.12101135A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002040305", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000185313", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_38722326_G_A", "variantRsId": "rs373470651", "cohortPhenotypes": ["Brugada syndrome", "Sudden Unexplained Death Syndrome", "Sudden Unexplained Nocturnal Death Syndrome (SUNDS)", "Sudden unexpected nocturnal death syndrome", "Sudden unexplained nocturnal death syndrome"], "diseaseFromSource": "Brugada syndrome", "diseaseFromSourceId": "C1142166", "diseaseFromSourceMappedId": "MONDO_0015263", "variantHgvsId": "NC_000003.12:g.38722326G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002049029", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000096696", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_7585421_A_T", "variantRsId": "rs367972703", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8", "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "Arrhythmogenic cardiomyopathy with wooly hair and keratoderma", "Arrhythmogenic right ventricular cardiomyopathy, type 8", "Arrhythmogenic right ventricular dysplasia 8", "Carvajal syndrome", "Dilated cardiomyopathy with woolly hair and keratoderma", "Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy", "Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"], "diseaseFromSource": "Arrhythmogenic cardiomyopathy with wooly hair and keratoderma", "diseaseFromSourceId": "C1854063", "diseaseFromSourceMappedId": "MONDO_0011581", "variantHgvsId": "NC_000006.12:g.7585421A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002049029", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000096696", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_7585421_A_T", "variantRsId": "rs367972703", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8", "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "Arrhythmogenic cardiomyopathy with wooly hair and keratoderma", "Arrhythmogenic right ventricular cardiomyopathy, type 8", "Arrhythmogenic right ventricular dysplasia 8", "Carvajal syndrome", "Dilated cardiomyopathy with woolly hair and keratoderma", "Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy", "Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"], "diseaseFromSource": "Arrhythmogenic cardiomyopathy with wooly hair and keratoderma", "diseaseFromSourceId": "C1854063", "diseaseFromSourceMappedId": "Orphanet_65282", "variantHgvsId": "NC_000006.12:g.7585421A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002049029", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000096696", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_7585421_A_T", "variantRsId": "rs367972703", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8", "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "Arrhythmogenic cardiomyopathy with wooly hair and keratoderma", "Arrhythmogenic right ventricular cardiomyopathy, type 8", "Arrhythmogenic right ventricular dysplasia 8", "Carvajal syndrome", "Dilated cardiomyopathy with woolly hair and keratoderma", "Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy", "Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 8", "diseaseFromSourceId": "C1843896", "diseaseFromSourceMappedId": "Orphanet_247", "variantHgvsId": "NC_000006.12:g.7585421A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002049029", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000096696", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_7585421_A_T", "variantRsId": "rs367972703", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8", "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "Arrhythmogenic cardiomyopathy with wooly hair and keratoderma", "Arrhythmogenic right ventricular cardiomyopathy, type 8", "Arrhythmogenic right ventricular dysplasia 8", "Carvajal syndrome", "Dilated cardiomyopathy with woolly hair and keratoderma", "Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy", "Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 8", "diseaseFromSourceId": "C1843896", "diseaseFromSourceMappedId": "MONDO_0011831", "variantHgvsId": "NC_000006.12:g.7585421A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002066311", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000105647", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_18168762_G_A", "variantRsId": "rs201568661", "cohortPhenotypes": ["MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT", "MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME", "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1"], "diseaseFromSource": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1", "diseaseFromSourceId": "C4012727", "diseaseFromSourceMappedId": "Orphanet_83473", "variantHgvsId": "NC_000019.10:g.18168762G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002080160", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000107796", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_88938118_A_G", "variantRsId": "rs1845778698", "cohortPhenotypes": ["Aortic aneurysm, familial thoracic 6", "FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI"], "diseaseFromSource": "Aortic aneurysm, familial thoracic 6", "diseaseFromSourceId": "C2673186", "diseaseFromSourceMappedId": "MONDO_0019625", "variantHgvsId": "NC_000010.11:g.88938118A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002080160", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000138134", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "10_88938118_A_G", "variantRsId": "rs1845778698", "cohortPhenotypes": ["Aortic aneurysm, familial thoracic 6", "FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI"], "diseaseFromSource": "Aortic aneurysm, familial thoracic 6", "diseaseFromSourceId": "C2673186", "diseaseFromSourceMappedId": "MONDO_0019625", "variantHgvsId": "NC_000010.11:g.88938118A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002098228", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000135766", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_231421372_G_A", "variantRsId": "rs1656589017", "cohortPhenotypes": ["Erythrocytosis, familial, 3"], "diseaseFromSource": "Erythrocytosis, familial, 3", "diseaseFromSourceId": "C1853286", "diseaseFromSourceMappedId": "MONDO_0007572", "variantHgvsId": "NC_000001.11:g.231421372G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002154303", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000104320", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "8_89970444_A_G", "variantRsId": "rs1811457608", "cohortPhenotypes": ["Ataxia telangiectasia variant V1", "Berlin Breakage syndrome", "IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY", "Immunodeficiency, microcephaly with normal intelligence", "Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies", "Microcephaly, normal intelligence and immunodeficiency", "Nijmegen breakage syndrome", "Nonsyndromal microcephaly autosomal recessive with normal intelligence", "SEEMANOVA SYNDROME II", "Seemanova syndrome 2"], "diseaseFromSource": "Microcephaly, normal intelligence and immunodeficiency", "diseaseFromSourceId": "C0398791", "diseaseFromSourceMappedId": "MONDO_0009623", "variantHgvsId": "NC_000008.11:g.89970444A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002227702", "releaseDate": "2022-05-12", "targetFromSourceId": "ENSG00000100014", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_24321519_C_G", "variantRsId": "rs529314817", "cohortPhenotypes": ["Teebi hypertelorism syndrome 1"], "diseaseFromSource": "Teebi hypertelorism syndrome 1", "diseaseFromSourceId": "CN306405", "variantHgvsId": "NC_000022.11:g.24321519C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002230862", "releaseDate": "2022-05-16", "targetFromSourceId": "ENSG00000122512", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "7_6004064_A_G", "variantRsId": "rs1060504837", "cohortPhenotypes": ["Hereditary nonpolyposis colorectal neoplasms"], "diseaseFromSource": "Hereditary nonpolyposis colorectal neoplasms", "diseaseFromSourceId": "C0009405", "diseaseFromSourceMappedId": "EFO_0009911", "variantHgvsId": "NC_000007.14:g.6004064A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002232090", "releaseDate": "2022-05-16", "targetFromSourceId": "ENSG00000020922", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_94485928_T_A", "variantRsId": "rs748434421", "cohortPhenotypes": ["Ataxia-telangiectasia-like disorder"], "diseaseFromSource": "Ataxia-telangiectasia-like disorder", "diseaseFromSourceId": "C1858391", "diseaseFromSourceMappedId": "MONDO_0011457", "variantHgvsId": "NC_000011.10:g.94485928T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002234807", "releaseDate": "2022-05-16", "targetFromSourceId": "ENSG00000160014", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_46608879_C_T", "variantRsId": "rs1599759441", "cohortPhenotypes": ["Long QT syndrome 1"], "diseaseFromSource": "Long QT syndrome 1", "diseaseFromSourceId": "C4551647", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000019.10:g.46608879C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV002256830", "releaseDate": "2022-06-24", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_2086798_G_A", "variantRsId": "rs137854153", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000016.10:g.2086798G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001427262", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000039068", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_68811766_C_T", "variantRsId": "rs1057522178", "cohortPhenotypes": ["Hereditary diffuse gastric adenocarcinoma", "Hereditary diffuse gastric cancer"], "diseaseFromSource": "Hereditary diffuse gastric adenocarcinoma", "diseaseFromSourceId": "C1708349", "diseaseFromSourceMappedId": "MONDO_0007648", "variantHgvsId": "NC_000016.10:g.68811766C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001427262", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000039068", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_68811766_C_T", "variantRsId": "rs1057522178", "cohortPhenotypes": ["Hereditary diffuse gastric adenocarcinoma", "Hereditary diffuse gastric cancer"], "diseaseFromSource": "Hereditary diffuse gastric adenocarcinoma", "diseaseFromSourceId": "C1708349", "diseaseFromSourceMappedId": "Orphanet_26106", "variantHgvsId": "NC_000016.10:g.68811766C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001489150", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000038002", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "4_177438735_G_A", "variantRsId": "rs1190000409", "cohortPhenotypes": ["AGA deficiency", "Aspartylglucos-amidase (AGA) deficiency", "Aspartylglucos-aminuria", "Aspartylglucosaminuria", "Aspartylglycosaminuria", "GLYCOASPARAGINASE", "Glycosylasparaginase deficiency"], "diseaseFromSource": "Aspartylglucosaminuria", "diseaseFromSourceId": "C0268225", "diseaseFromSourceMappedId": "MONDO_0008830", "variantHgvsId": "NC_000004.12:g.177438735G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001810029", "releaseDate": "2022-01-15", "targetFromSourceId": "ENSG00000075043", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63472400_C_T", "variantRsId": "rs2082239153", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 7", "Early infantile epileptic encephalopathy 7", "KCNQ2-Related Neonatal Epileptic Encephalopathy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 7", "diseaseFromSourceId": "C3150986", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000020.11:g.63472400C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001830443", "releaseDate": "2022-02-13", "targetFromSourceId": "ENSG00000011143", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "17_58206159_G_A", "variantRsId": "rs772719574", "cohortPhenotypes": ["MECKEL-GRUBER SYNDROME, TYPE 1", "Meckel syndrome, type 1"], "diseaseFromSource": "Meckel syndrome, type 1", "diseaseFromSourceId": "C3714506", "variantHgvsId": "NC_000017.11:g.58206159G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001866374", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000277027", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "9_35658026_C_CAGCTTCACAGAGTAGCTTCACAGAGTAGCTTCACAGAGT", "variantRsId": "rs751921616", "cohortPhenotypes": ["Anauxetic dysplasia", "SPONDYLOMETAEPIPHYSEAL DYSPLASIA, ANAUXETIC TYPE"], "diseaseFromSource": "Anauxetic dysplasia", "diseaseFromSourceId": "C1846796", "diseaseFromSourceMappedId": "MONDO_0011773", "variantHgvsId": "NC_000009.12:g.35658029CTTCACAGAGTAG[4]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001901774", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000204843", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "2_74370827_T_C", "variantRsId": "rs2103661242", "cohortPhenotypes": ["AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL", "Amyotrophic lateral sclerosis type 1", "HMN VIIB", "LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 14", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, HARDING TYPE VIIB", "Neuronopathy, distal hereditary motor, type 7B", "Parkinsonism with alveolar hypoventilation and mental depression", "Perry syndrome"], "diseaseFromSource": "Neuronopathy, distal hereditary motor, type 7B", "diseaseFromSourceId": "C1843315", "variantHgvsId": "NC_000002.12:g.74370827T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001901774", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000204843", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "2_74370827_T_C", "variantRsId": "rs2103661242", "cohortPhenotypes": ["AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL", "Amyotrophic lateral sclerosis type 1", "HMN VIIB", "LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 14", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, HARDING TYPE VIIB", "Neuronopathy, distal hereditary motor, type 7B", "Parkinsonism with alveolar hypoventilation and mental depression", "Perry syndrome"], "diseaseFromSource": "Amyotrophic lateral sclerosis type 1", "diseaseFromSourceId": "C1862939", "diseaseFromSourceMappedId": "MONDO_0004976", "variantHgvsId": "NC_000002.12:g.74370827T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001901774", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000204843", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "2_74370827_T_C", "variantRsId": "rs2103661242", "cohortPhenotypes": ["AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL", "Amyotrophic lateral sclerosis type 1", "HMN VIIB", "LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 14", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, HARDING TYPE VIIB", "Neuronopathy, distal hereditary motor, type 7B", "Parkinsonism with alveolar hypoventilation and mental depression", "Perry syndrome"], "diseaseFromSource": "Perry syndrome", "diseaseFromSourceId": "C1868594", "diseaseFromSourceMappedId": "MONDO_0008201", "variantHgvsId": "NC_000002.12:g.74370827T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001926107", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000144285", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165991430_C_A", "variantRsId": "rs1216022727", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000002.12:g.165991430C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001926107", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000144285", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165991430_C_A", "variantRsId": "rs1216022727", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000002.12:g.165991430C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001929939", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000136928", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_98708574_G_C", "variantRsId": "rs760155306", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000009.12:g.98708574G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001930932", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000197694", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_128626514_C_T", "variantRsId": "rs751337586", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic 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+{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001942239", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000258366", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "20_63695551_CTG_C", "variantRsId": "rs1316931773", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal recessive 5", "PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3", "Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3"], "diseaseFromSource": "Dyskeratosis congenita, autosomal recessive 5", "diseaseFromSourceId": "C3554656", "diseaseFromSourceMappedId": "MONDO_0014076", "variantHgvsId": "NC_000020.11:g.63695552TG[3]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001942239", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000258366", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "20_63695551_CTG_C", "variantRsId": "rs1316931773", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal recessive 5", "PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3", "Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3"], "diseaseFromSource": "Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3", "diseaseFromSourceId": "C4225346", "diseaseFromSourceMappedId": "EFO_1001501", "variantHgvsId": "NC_000020.11:g.63695552TG[3]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001947467", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000137834", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "15_66703348_CGGT_C", "variantRsId": "rs1046189206", "cohortPhenotypes": ["Aortic valve disease 2"], "diseaseFromSource": "Aortic valve disease 2", "diseaseFromSourceId": "C3542024", "diseaseFromSourceMappedId": "MONDO_0007194", "variantHgvsId": "NC_000015.10:g.66703351_66703353del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001949887", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000167323", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_4070116_G_A", "variantRsId": "rs764002968", "cohortPhenotypes": ["Combined immunodeficiency due to STIM1 deficiency", "IMMUNODEFICIENCY 10", "Immune dysfunction with T-cell inactivation due to calcium entry defect 2", "Myopathy with tubular aggregates", "STIM1 DEFICIENCY", "Stormorken syndrome", "THROMBOCYTOPATHY, ASPLENIA, 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"genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002032194", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152387283_G_A", "variantRsId": "rs1438857220", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES", "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Autosomal recessive ataxia, Beauce type", "diseaseFromSourceId": "C1853116", "diseaseFromSourceMappedId": "MONDO_0012549", "variantHgvsId": "NC_000006.12:g.152387283G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002032194", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152387283_G_A", "variantRsId": "rs1438857220", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES", "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Autosomal recessive ataxia, Beauce type", "diseaseFromSourceId": "C1853116", "diseaseFromSourceMappedId": "Orphanet_88644", "variantHgvsId": "NC_000006.12:g.152387283G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002032194", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152387283_G_A", "variantRsId": "rs1438857220", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES", "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "diseaseFromSourceId": "C2751807", "diseaseFromSourceMappedId": "MONDO_0020336", "variantHgvsId": "NC_000006.12:g.152387283G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002037142", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_43091455_T_C", "variantRsId": "rs1567789002", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.43091455T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002037142", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_43091455_T_C", "variantRsId": "rs1567789002", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "MONDO_0003582", "variantHgvsId": "NC_000017.11:g.43091455T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002042360", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000083093", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_23624082_G_T", "variantRsId": "rs180177124", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000016.10:g.23624082G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002044210", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000107290", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_132329754_G_A", "variantRsId": "rs143340285", "cohortPhenotypes": ["AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE", "Amyotrophic lateral sclerosis type 4", "Ataxia with Oculomotor Apraxia", "Ataxia-ocular apraxia-2", "Ataxia-oculomotor apraxia 2", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES", "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2"], "diseaseFromSource": "Amyotrophic lateral sclerosis type 4", "diseaseFromSourceId": "C1865409", "diseaseFromSourceMappedId": "MONDO_0004976", "variantHgvsId": "NC_000009.12:g.132329754G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002044210", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000107290", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_132329754_G_A", "variantRsId": "rs143340285", "cohortPhenotypes": ["AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE", "Amyotrophic lateral sclerosis type 4", "Ataxia with Oculomotor Apraxia", "Ataxia-ocular apraxia-2", "Ataxia-oculomotor apraxia 2", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES", "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2"], "diseaseFromSource": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2", "diseaseFromSourceId": "C1853761", "diseaseFromSourceMappedId": "Orphanet_94124", "variantHgvsId": "NC_000009.12:g.132329754G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002072920", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000123607", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_165953651_G_GCCCGCCCGCTCA", "variantRsId": "rs569432248", "cohortPhenotypes": ["Chondroectodermal dysplasia-like syndrome", "Infantile thoracic dystrophy", "Jeune syndrome", "Jeune thoracic dystrophy", "Jeune's syndrome", "Nephronophthisis", "Short-rib thoracic dysplasia", "Thoracic pelvic phalangeal dystrophy", "juvenile nephronophthisis"], "diseaseFromSource": "Jeune thoracic dystrophy", "diseaseFromSourceId": "C0265275", "diseaseFromSourceMappedId": "MONDO_0018770", "variantHgvsId": "NC_000002.12:g.165953652_165953656CCCG[2]CTCACCCGC[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002072920", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000123607", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_165953651_G_GCCCGCCCGCTCA", "variantRsId": "rs569432248", "cohortPhenotypes": ["Chondroectodermal dysplasia-like syndrome", "Infantile thoracic dystrophy", "Jeune syndrome", "Jeune thoracic dystrophy", "Jeune's syndrome", "Nephronophthisis", "Short-rib thoracic dysplasia", "Thoracic pelvic phalangeal dystrophy", "juvenile nephronophthisis"], "diseaseFromSource": "Nephronophthisis", "diseaseFromSourceId": "C0687120", "diseaseFromSourceMappedId": "MONDO_0019005", "variantHgvsId": "NC_000002.12:g.165953652_165953656CCCG[2]CTCACCCGC[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002146927", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000129250", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "17_5004838_G_C", "variantRsId": "rs776141172", "cohortPhenotypes": ["Ataxia, spastic, 2, autosomal recessive", "Spastic ataxia 2"], "diseaseFromSource": "Spastic ataxia 2", "diseaseFromSourceId": "C1969796", "diseaseFromSourceMappedId": "Orphanet_316240", "variantHgvsId": "NC_000017.11:g.5004838G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002170158", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000007402", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "3_50366179_G_A", "variantRsId": "rs746954450", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000003.12:g.50366179G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002170158", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000007402", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "3_50366179_G_A", "variantRsId": "rs746954450", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000003.12:g.50366179G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002170920", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000108384", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_58692804_G_A", "variantRsId": "rs1471520258", "cohortPhenotypes": ["Fanconi anemia complementation group O"], "diseaseFromSource": "Fanconi anemia complementation group O", "diseaseFromSourceId": "C3150653", "variantHgvsId": "NC_000017.11:g.58692804G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002198643", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000169379", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "3_94036766_AA_CC", "variantRsId": "rs2107120000", "cohortPhenotypes": ["Joubert syndrome 8"], "diseaseFromSource": "Joubert syndrome 8", "diseaseFromSourceId": "C2676771", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000003.12:g.94036766_94036767delinsCC"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002200904", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000141485", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "17_6693178_A_AACACACACACAC", "variantRsId": "rs200900896", "cohortPhenotypes": ["Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta", "Developmental and epileptic encephalopathy, 25", "Epileptic encephalopathy, early infantile, 25", "Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 25", "diseaseFromSourceId": "C4014621", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000017.11:g.6693179AC[32]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002200904", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000141485", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "17_6693178_A_AACACACACACAC", "variantRsId": "rs200900896", "cohortPhenotypes": ["Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta", "Developmental and epileptic encephalopathy, 25", "Epileptic encephalopathy, early infantile, 25", "Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 25", "diseaseFromSourceId": "C4014621", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000017.11:g.6693179AC[32]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002270594", "releaseDate": "2022-07-30", "targetFromSourceId": "ENSG00000107147", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_135784872_G_A", "variantRsId": "rs760000324", "cohortPhenotypes": ["Autosomal dominant nocturnal frontal lobe epilepsy 5", "CILIARY DYSKINESIA, PRIMARY, 28, WITH SITUS INVERSUS", "CILIARY DYSKINESIA, PRIMARY, 28, WITHOUT SITUS INVERSUS", "Epilepsy, nocturnal frontal lobe, 5"], "diseaseFromSource": "Autosomal dominant nocturnal frontal lobe epilepsy 5", "diseaseFromSourceId": "C3554306", "diseaseFromSourceMappedId": "Orphanet_98784", "variantHgvsId": "NC_000009.12:g.135784872G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000312067", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000104044", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_28014907_G_A", "variantRsId": "rs1800401", "cohortPhenotypes": ["ALBINISM II", "Albinism 2", "Albinism, oculocutaneous, type II", "Albinoidism", "Tyrosinase-positive oculocutaneous albinism"], "diseaseFromSource": "Tyrosinase-positive oculocutaneous albinism", "diseaseFromSourceId": "C0268495", "diseaseFromSourceMappedId": "MONDO_0008746", "variantHgvsId": "NC_000015.10:g.28014907G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "MONDO_0005129", "variantHgvsId": "NC_000003.12:g.45967999C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_91492", "variantHgvsId": "NC_000003.12:g.45967999C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98991", "variantHgvsId": "NC_000003.12:g.45967999C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98992", "variantHgvsId": "NC_000003.12:g.45967999C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98995", "variantHgvsId": "NC_000003.12:g.45967999C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000533702", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_45967491_G_A", "variantRsId": "rs149507450", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "MONDO_0005129", "variantHgvsId": "NC_000003.12:g.45967491G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000533702", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_45967491_G_A", "variantRsId": "rs149507450", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_91492", "variantHgvsId": "NC_000003.12:g.45967491G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000533702", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_45967491_G_A", "variantRsId": "rs149507450", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98991", "variantHgvsId": "NC_000003.12:g.45967491G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000533702", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_45967491_G_A", "variantRsId": "rs149507450", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98992", "variantHgvsId": "NC_000003.12:g.45967491G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000533702", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_45967491_G_A", "variantRsId": "rs149507450", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98995", "variantHgvsId": "NC_000003.12:g.45967491G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002260995", "releaseDate": "2022-07-09", "targetFromSourceId": "ENSG00000132842", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_78129275_G_A", "variantRsId": "rs17192146", "cohortPhenotypes": ["Autoinflammatory syndrome"], "diseaseFromSource": "Autoinflammatory syndrome", "diseaseFromSourceId": "C3890737", "diseaseFromSourceMappedId": "MONDO_0019751", "variantHgvsId": "NC_000005.10:g.78129275G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002269974", "releaseDate": "2022-07-30", "targetFromSourceId": "ENSG00000130635", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_134842317_C_T", "variantRsId": "rs12553247", "cohortPhenotypes": ["Fibromuscular dysplasia, multifocal"], "diseaseFromSource": "Fibromuscular dysplasia, multifocal", "diseaseFromSourceId": "C5543412", "variantHgvsId": "NC_000009.12:g.134842317C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic", "pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "literature": ["16527507", "22683713"], "studyId": "RCV000029220", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000122335", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "6_158119166_GCTGA_G", "variantRsId": "rs772296795", "cohortPhenotypes": ["3-METHYLGLUTACONIC ACIDURIA, TYPE VI", "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome", "MEGDEL syndrome"], "diseaseFromSource": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome", "diseaseFromSourceId": "C4040739", "diseaseFromSourceMappedId": "Orphanet_352328", "variantHgvsId": "NC_000006.12:g.158119169_158119172del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000366885", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152331354_C_T", "variantRsId": "rs139075013", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Autosomal recessive ataxia, Beauce type", "diseaseFromSourceId": "C1853116", "diseaseFromSourceMappedId": "MONDO_0012549", "variantHgvsId": "NC_000006.12:g.152331354C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000366885", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152331354_C_T", "variantRsId": "rs139075013", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Autosomal recessive ataxia, Beauce type", "diseaseFromSourceId": "C1853116", "diseaseFromSourceMappedId": "Orphanet_88644", "variantHgvsId": "NC_000006.12:g.152331354C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000525507", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000054654", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_63967778_C_T", "variantRsId": "rs374073818", "cohortPhenotypes": ["EMERY-DREIFUSS MUSCULAR DYSTROPHY 5", "Emery-Dreifuss muscular dystrophy 5, autosomal dominant"], "diseaseFromSource": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant", "diseaseFromSourceId": "C2751805", "diseaseFromSourceMappedId": "MONDO_0016830", "variantHgvsId": "NC_000014.9:g.63967778C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000552400", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178775672_A_C", "variantRsId": "rs759437501", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Dilated cardiomyopathy 1G", "diseaseFromSourceId": "C1858763", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000002.12:g.178775672A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000552400", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178775672_A_C", "variantRsId": "rs759437501", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "MONDO_0012127", "variantHgvsId": "NC_000002.12:g.178775672A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000552400", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178775672_A_C", "variantRsId": "rs759437501", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.178775672A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000792070", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000107719", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "10_70598760_C_T", "variantRsId": "rs145234214", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 2"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 2", "diseaseFromSourceId": "C1863727", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000010.11:g.70598760C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000792070", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000180644", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_70598760_C_T", "variantRsId": "rs145234214", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 2"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 2", "diseaseFromSourceId": "C1863727", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000010.11:g.70598760C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001027575", "releaseDate": "2020-03-26", "targetFromSourceId": "ENSG00000027697", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "6_137204354_TA_T", "variantRsId": "rs749956849", "cohortPhenotypes": ["Inherited Immunodeficiency Diseases"], "diseaseFromSource": "Inherited Immunodeficiency Diseases", "diseaseFromSourceId": "C5197805", "variantHgvsId": "NC_000006.12:g.137204355del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001214622", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000177666", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_823728_G_GC", "variantRsId": "rs1343828094", "cohortPhenotypes": ["Neutral lipid storage disease with myopathy", "Neutral lipid storage disease without ichthyosis", "Neutral lipid storage myopathy"], "diseaseFromSource": "Neutral lipid storage myopathy", "diseaseFromSourceId": "C1853136", "diseaseFromSourceMappedId": "Orphanet_98908", "variantHgvsId": "NC_000011.10:g.823734dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001214622", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000177666", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_823728_G_GC", "variantRsId": "rs1343828094", "cohortPhenotypes": ["Neutral lipid storage disease with myopathy", "Neutral lipid storage disease without ichthyosis", "Neutral lipid storage myopathy"], "diseaseFromSource": "Neutral lipid storage myopathy", "diseaseFromSourceId": "C1853136", "diseaseFromSourceMappedId": "MONDO_0012545", "variantHgvsId": "NC_000011.10:g.823734dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001220807", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000022267", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_136206494_A_G", "variantRsId": "rs1187549360", "cohortPhenotypes": ["X-linked myopathy with postural muscle atrophy"], "diseaseFromSource": "X-linked myopathy with postural muscle atrophy", "diseaseFromSourceId": "C2678055", "diseaseFromSourceMappedId": "MONDO_0010401", "variantHgvsId": "NC_000023.11:g.136206494A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001302345", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000273079", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_13562994_G_A", "variantRsId": "rs201463390", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 27", "Epileptic encephalopathy, early infantile, 27", "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES", "Intellectual disability, autosomal dominant 6"], "diseaseFromSource": "Intellectual disability, autosomal dominant 6", "diseaseFromSourceId": "C3151411", "variantHgvsId": "NC_000012.12:g.13562994G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001302345", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000273079", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_13562994_G_A", "variantRsId": "rs201463390", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 27", "Epileptic encephalopathy, early infantile, 27", "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES", "Intellectual disability, autosomal dominant 6"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 27", "diseaseFromSourceId": "C4015316", "diseaseFromSourceMappedId": "Orphanet_3451", "variantHgvsId": "NC_000012.12:g.13562994G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001466478", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000187566", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_18122583_G_A", "variantRsId": "rs763202331", "cohortPhenotypes": ["Epilepsy progressive myoclonic 2", "Lafora body disorder", "Lafora disease", "Myoclonic epilepsy of Lafora"], "diseaseFromSource": "Lafora disease", "diseaseFromSourceId": "C0751783", "diseaseFromSourceMappedId": "MONDO_0009697", "variantHgvsId": "NC_000006.12:g.18122583G>A"} +{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001526477", "releaseDate": "2021-06-19", "targetFromSourceId": "ENSG00000144285", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166038074_A_G", "variantRsId": "rs2105808409", "cohortPhenotypes": ["GEFS+, TYPE 2", "Generalized epilepsy with febrile seizures plus, type 2"], "diseaseFromSource": "Generalized epilepsy with febrile seizures plus, type 2", "diseaseFromSourceId": "C1858673", "diseaseFromSourceMappedId": "Orphanet_36387", "variantHgvsId": "NC_000002.12:g.166038074A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000262741", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_178713381_T_TACAAAACAAAACAAA", "variantRsId": "rs71393436", "cohortPhenotypes": ["CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY", "Early-onset myopathy with fatal cardiomyopathy", "Salih Myopathy"], "diseaseFromSource": "Early-onset myopathy with fatal cardiomyopathy", "diseaseFromSourceId": "C2673677", "diseaseFromSourceMappedId": "MONDO_0012714", "variantHgvsId": "NC_000002.12:g.178713383CAAAA[9]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000275192", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000167792", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_67609491_G_A", "variantRsId": "rs140445386", "cohortPhenotypes": ["MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF", "Mitochondrial complex I deficiency, nuclear type 1", "NADH-COENZYME Q REDUCTASE DEFICIENCY"], "diseaseFromSource": "Mitochondrial complex I deficiency, nuclear type 1", "diseaseFromSourceId": "CN257533", "diseaseFromSourceMappedId": "MONDO_0100133", "variantHgvsId": "NC_000011.10:g.67609491G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000319651", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_178713381_T_TACAAAACAAAACAAA", "variantRsId": "rs71393436", "cohortPhenotypes": ["Limb-Girdle Muscular Dystrophy, Recessive"], "diseaseFromSource": "Limb-Girdle Muscular Dystrophy, Recessive", "diseaseFromSourceId": "CN239352", "diseaseFromSourceMappedId": "MONDO_0015152", "variantHgvsId": "NC_000002.12:g.178713383CAAAA[9]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000353778", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_52401645_C_T", "variantRsId": "rs374367093", "cohortPhenotypes": ["BAP1 tumor predisposition syndrome", "BAP1-related tumor predisposition syndrome", "TUMOR PREDISPOSITION SYNDROME 1", "Tumor predisposition syndrome", "Tumor susceptibility linked to germline BAP1 mutations"], "diseaseFromSource": "BAP1-related tumor predisposition syndrome", "diseaseFromSourceId": "C3280492", "diseaseFromSourceMappedId": "MONDO_0013692", "variantHgvsId": "NC_000003.12:g.52401645C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000353778", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_52401645_C_T", "variantRsId": "rs374367093", "cohortPhenotypes": ["BAP1 tumor predisposition syndrome", "BAP1-related tumor predisposition syndrome", "TUMOR PREDISPOSITION SYNDROME 1", "Tumor predisposition syndrome", "Tumor susceptibility linked to germline BAP1 mutations"], "diseaseFromSource": "BAP1-related tumor predisposition syndrome", "diseaseFromSourceId": "C3280492", "diseaseFromSourceMappedId": "Orphanet_289539", "variantHgvsId": "NC_000003.12:g.52401645C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000476699", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000078328", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_7518261_C_T", "variantRsId": "rs151214012", "cohortPhenotypes": ["EIG", "Generalised epilepsy", "Idiopathic generalized epilepsy"], "diseaseFromSource": "Idiopathic generalized epilepsy", "diseaseFromSourceId": "C0270850", "diseaseFromSourceMappedId": "EFO_0005917", "variantHgvsId": "NC_000016.10:g.7518261C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000608662", "releaseDate": "2018-04-09", "targetFromSourceId": "ENSG00000160299", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "21_46363881_T_C", "variantRsId": "rs8131546", "cohortPhenotypes": ["MOPD 2", "MOPD II", "Microcephalic osteodysplastic primordial dwarfism type 2", "Microcephalic osteodysplastic primordial dwarfism type II", "Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities", "OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II", "Osteodysplastic primordial dwarfism type 2"], "diseaseFromSource": "Microcephalic osteodysplastic primordial dwarfism type II", "diseaseFromSourceId": "C0432246", "diseaseFromSourceMappedId": "Orphanet_2637", "variantHgvsId": "NC_000021.9:g.46363881T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000608662", "releaseDate": "2018-04-09", "targetFromSourceId": "ENSG00000160299", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "21_46363881_T_C", "variantRsId": "rs8131546", "cohortPhenotypes": ["MOPD 2", "MOPD II", "Microcephalic osteodysplastic primordial dwarfism type 2", "Microcephalic osteodysplastic primordial dwarfism type II", "Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities", "OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II", "Osteodysplastic primordial dwarfism type 2"], "diseaseFromSource": "Microcephalic osteodysplastic primordial dwarfism type II", "diseaseFromSourceId": "C0432246", "diseaseFromSourceMappedId": "MONDO_0008872", "variantHgvsId": "NC_000021.9:g.46363881T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000640904", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000102144", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "X_78015811_A_T", "variantRsId": "rs781950120", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkes Disease", "Menkes kinky-hair syndrome", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED", "NEUROPATHY, DISTAL HEREDITARY MOTOR, X-LINKED", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Menkes kinky-hair syndrome", "diseaseFromSourceId": "C0022716", "diseaseFromSourceMappedId": "MONDO_0010651", "variantHgvsId": "NC_000023.11:g.78015811A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000640904", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000165240", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_78015811_A_T", "variantRsId": "rs781950120", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", 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"ENSG00000165240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_78011237_A_G", "variantRsId": "rs781900997", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkes Disease", "Menkes kinky-hair syndrome", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED", "NEUROPATHY, DISTAL HEREDITARY MOTOR, X-LINKED", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "X-linked distal spinal muscular atrophy type 3", "diseaseFromSourceId": "C1845359", "diseaseFromSourceMappedId": "MONDO_0010338", "variantHgvsId": "NC_000023.11:g.78011237A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001146411", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000113966", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_97788005_G_A", "variantRsId": "rs142258123", "cohortPhenotypes": ["Retinitis pigmentosa", "Tapetoretinal degeneration"], "diseaseFromSource": "Retinitis pigmentosa", "diseaseFromSourceId": "C0035334", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000003.12:g.97788005G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001169454", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000119121", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_74840057_C_T", "variantRsId": "rs150874152", "cohortPhenotypes": ["HYPOMAGNESEMIA, INTESTINAL, WITH SECONDARY HYPOCALCEMIA", "HYPOMAGNESEMIC TETANY", "Intestinal hypomagnesemia 1"], "diseaseFromSource": "Intestinal hypomagnesemia 1", "diseaseFromSourceId": "C1865974", "diseaseFromSourceMappedId": "MONDO_0011176", "variantHgvsId": "NC_000009.12:g.74840057C>T"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001174370", "releaseDate": "2020-06-14", "targetFromSourceId": "ENSG00000171105", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_7141784_G_A", "variantRsId": "rs149536206", "cohortPhenotypes": ["Monogenic diabetes"], "diseaseFromSource": "Monogenic diabetes", "diseaseFromSourceId": "C3888631", "diseaseFromSourceMappedId": "EFO_1001511", "variantHgvsId": "NC_000019.10:g.7141784G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001266493", "releaseDate": "2020-11-21", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "14_23420200_G_GCCTCCAGCTCCT", "variantRsId": "rs1064792935", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000014.9:g.23420202CTCCAGCTCCTC[3]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001952927", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000013375", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_83188646_T_C", "variantRsId": "rs754954770", "cohortPhenotypes": ["IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT", "IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME", "Immunodeficiency 23"], "diseaseFromSource": "Immunodeficiency 23", "diseaseFromSourceId": "C4014371", "diseaseFromSourceMappedId": "MONDO_0015823", "variantHgvsId": "NC_000006.12:g.83188646T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001069843", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000047457", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_149188097_C_T", "variantRsId": "rs1158598597", "cohortPhenotypes": ["Aceruloplasminemia", "Ceruloplasmin deficiency", "Deficiency of ceruloplasmin", "Deficiency of ferroxidase", "Familial apoceruloplasmin deficiency", "Hereditary ceruloplasmin deficiency", "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 10"], "diseaseFromSource": "Deficiency of ferroxidase", "diseaseFromSourceId": "C0878682", "diseaseFromSourceMappedId": "MONDO_0011426", "variantHgvsId": "NC_000003.12:g.149188097C>T"} +{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001002824", "releaseDate": "2020-02-16", "targetFromSourceId": "ENSG00000198691", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_94021404_C_G", "variantRsId": "rs61752439", "cohortPhenotypes": ["Fundus flavimaculatus", "Stargardt disease", "Stargardt's disease"], "diseaseFromSource": "Stargardt disease", "diseaseFromSourceId": "C0271093", "diseaseFromSourceMappedId": "MONDO_0019353", "variantHgvsId": "NC_000001.11:g.94021404C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001124072", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000004939", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_44249713_C_T", "variantRsId": "rs1174269872", "cohortPhenotypes": ["Autosomal dominant distal renal tubular acidosis", "RENAL TUBULAR ACIDOSIS, DISTAL, 1", "RTA, classic type", "RTA, distal type, autosomal dominant", "RTA, gradient type", "Renal Tubular Acidosis, Type I", "Renal tubular acidosis 1"], "diseaseFromSource": "Autosomal dominant distal renal tubular acidosis", "diseaseFromSourceId": "CN280572", "diseaseFromSourceMappedId": "MONDO_0008368", "variantHgvsId": "NC_000017.11:g.44249713C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000240662", "releaseDate": "2016-09-11", "targetFromSourceId": "ENSG00000132740", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_68933854_C_T", "variantRsId": "rs780594709", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S", "Charcot-Marie-Tooth disease axonal type 2S"], "diseaseFromSource": "Charcot-Marie-Tooth disease axonal type 2S", "diseaseFromSourceId": "C4015349", "variantHgvsId": "NC_000011.10:g.68933854C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000248743", "releaseDate": "2016-10-03", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178779324_C_T", "variantRsId": "rs748755381", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000002.12:g.178779324C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV000257799", "releaseDate": "2016-10-22", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "13_32333146_TTTAA_T", "variantRsId": "rs886040379", "cohortPhenotypes": ["Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32333149_32333152del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV000257799", "releaseDate": "2016-10-22", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "13_32333146_TTTAA_T", "variantRsId": "rs886040379", "cohortPhenotypes": ["Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "MONDO_0012933", "variantHgvsId": "NC_000013.11:g.32333149_32333152del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting classifications", "studyId": "RCV000258143", "releaseDate": "2016-11-05", "targetFromSourceId": "ENSG00000171316", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_60862317_A_G", "variantRsId": "rs780161032", "cohortPhenotypes": ["CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES", "CHARGE association", "CHARGE syndrome", "Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies", "Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation", "Hall-Hittner syndrome", "Hittner Hirsch Kreh syndrome"], "diseaseFromSource": "CHARGE association", "diseaseFromSourceId": "C0265354", "diseaseFromSourceMappedId": "MONDO_0008965", "variantHgvsId": "NC_000008.11:g.60862317A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting classifications", "studyId": "RCV000258385", "releaseDate": "2016-11-06", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "13_32326153_A_G", "variantRsId": "rs81002795", "cohortPhenotypes": ["Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32326153A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting classifications", "studyId": "RCV000258385", "releaseDate": "2016-11-06", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "13_32326153_A_G", "variantRsId": "rs81002795", "cohortPhenotypes": ["Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "MONDO_0012933", "variantHgvsId": "NC_000013.11:g.32326153A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000260467", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000006071", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_17404634_G_A", "variantRsId": "rs371089976", "cohortPhenotypes": ["HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS", "HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY", "Hyperinsulinemic hypoglycemia, familial, 1", "NESIDIOBLASTOSIS OF PANCREAS", "Persistent Hyperinsulinemia Hypoglycemia of Infancy", "Persistent hyperinsulinemic hypoglycemia of infancy"], "diseaseFromSource": "Hyperinsulinemic hypoglycemia, familial, 1", "diseaseFromSourceId": "C2931832", "diseaseFromSourceMappedId": "MONDO_0009734", "variantHgvsId": "NC_000011.10:g.17404634G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000260467", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000006071", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_17404634_G_A", "variantRsId": "rs371089976", "cohortPhenotypes": ["HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS", "HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY", "Hyperinsulinemic hypoglycemia, familial, 1", "NESIDIOBLASTOSIS OF PANCREAS", "Persistent Hyperinsulinemia Hypoglycemia of Infancy", "Persistent hyperinsulinemic hypoglycemia of infancy"], "diseaseFromSource": "Hyperinsulinemic hypoglycemia, familial, 1", "diseaseFromSourceId": "C2931832", "diseaseFromSourceMappedId": "Orphanet_657", "variantHgvsId": "NC_000011.10:g.17404634G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting classifications", "studyId": "RCV000273957", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000133063", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "1_203225876_C_T", "variantRsId": "rs190551025", "cohortPhenotypes": ["Chitotriosidase deficiency"], "diseaseFromSource": "Chitotriosidase deficiency", "diseaseFromSourceId": "C3279902", "diseaseFromSourceMappedId": "MONDO_0013586", "variantHgvsId": "NC_000001.11:g.203225876C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000279393", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178633323_C_G", "variantRsId": "rs727505144", "cohortPhenotypes": ["CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY", "Early-onset myopathy with fatal cardiomyopathy", "Salih Myopathy"], "diseaseFromSource": "Early-onset myopathy with fatal cardiomyopathy", "diseaseFromSourceId": "C2673677", "diseaseFromSourceMappedId": "MONDO_0012714", "variantHgvsId": "NC_000002.12:g.178633323C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000294258", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000235718", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "11_119346388_A_ATAC", "variantRsId": "rs143351376", "cohortPhenotypes": ["Retinal degeneration"], "diseaseFromSource": "Retinal degeneration", "diseaseFromSourceId": "C0035304", "diseaseFromSourceMappedId": "MONDO_0004580", "variantHgvsId": "NC_000011.10:g.119346390_119346392dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000294299", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000189056", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "7_103989356_T_TGCCGCCGCCGCCGCCGCCGCC", "variantRsId": "rs55656324", "cohortPhenotypes": ["Lissencephaly, Recessive"], "diseaseFromSource": "Lissencephaly, Recessive", "diseaseFromSourceId": "CN239458", "diseaseFromSourceMappedId": "EFO_0011063", "variantHgvsId": "NC_000007.14:g.103989359CGC[15]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000297548", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000116218", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_179575717_G_A", "variantRsId": "rs886045596", "cohortPhenotypes": ["Hereditary nephrotic syndrome", "Nephrotic syndrome, steroid-resistant, autosomal recessive", "Nephrotic syndrome, type 2"], "diseaseFromSource": "Nephrotic syndrome, type 2", "diseaseFromSourceId": "C1868672", "diseaseFromSourceMappedId": "MONDO_0019006", "variantHgvsId": "NC_000001.11:g.179575717G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000331537", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000196628", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "18_55585355_A_G", "variantRsId": "rs148658897", "cohortPhenotypes": ["ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION", "MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION", "Mental retardation, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea", "Pitt-Hopkins syndrome"], "diseaseFromSource": "Pitt-Hopkins syndrome", "diseaseFromSourceId": "C1970431", "diseaseFromSourceMappedId": "MONDO_0012589", "variantHgvsId": "NC_000018.10:g.55585355A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339812", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000017427", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "12_102399107_A_ATG", "variantRsId": "rs3032446", "cohortPhenotypes": ["Growth delay due to insulin-like growth factor type 1 deficiency", "Growth retardation with sensorineural deafness and mental retardation", "IGF1 deficiency", "Insulin-like growth factor I deficiency"], "diseaseFromSource": "Growth delay due to insulin-like growth factor type 1 deficiency", "diseaseFromSourceId": "C1837475", "diseaseFromSourceMappedId": "MONDO_0012110", "variantHgvsId": "NC_000012.12:g.102399109GT[20]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339812", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000017427", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "12_102399107_A_ATG", "variantRsId": "rs3032446", "cohortPhenotypes": ["Growth delay due to insulin-like growth factor type 1 deficiency", "Growth retardation with sensorineural deafness and mental retardation", "IGF1 deficiency", "Insulin-like growth factor I deficiency"], "diseaseFromSource": "Growth delay due to insulin-like growth factor type 1 deficiency", "diseaseFromSourceId": "C1837475", "diseaseFromSourceMappedId": "Orphanet_73272", "variantHgvsId": "NC_000012.12:g.102399109GT[20]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000394523", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000165029", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "9_104837109_G_A", "variantRsId": "rs2297399", "cohortPhenotypes": ["Hypoalphalipoproteinemia, primary, 1"], "diseaseFromSource": "Hypoalphalipoproteinemia, primary, 1", "diseaseFromSourceId": "C5231558", "diseaseFromSourceMappedId": "MONDO_0100189", "variantHgvsId": "NC_000009.12:g.104837109G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000454126", "releaseDate": "2017-04-03", "targetFromSourceId": "ENSG00000107736", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_71617296_C_T", "variantRsId": "rs778251205", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 12", "Deafness, autosomal recessive 12"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 12", "diseaseFromSourceId": "C1832394", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000010.11:g.71617296C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339062", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000062038", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "16_68644701_T_C", "variantRsId": "rs150247850", "cohortPhenotypes": ["EEM syndrome", "Ectodermal dysplasia, ectrodactyly, and macular dystrophy"], "diseaseFromSource": "EEM syndrome", "diseaseFromSourceId": "C1857041", "diseaseFromSourceMappedId": "MONDO_0009155", "variantHgvsId": "NC_000016.10:g.68644701T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000341229", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178568853_T_C", "variantRsId": "rs3813246", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "MONDO_0012127", "variantHgvsId": "NC_000002.12:g.178568853T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000341229", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178568853_T_C", "variantRsId": "rs3813246", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.178568853T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000341792", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000141255", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "17_3513833_C_T", "variantRsId": "rs146188912", "cohortPhenotypes": ["Isolated focal non-epidermolytic palmoplantar keratoderma", "Palmoplantar keratoderma, nonepidermolytic, focal 2"], "diseaseFromSource": "Isolated focal non-epidermolytic palmoplantar keratoderma", "diseaseFromSourceId": "C4225339", "diseaseFromSourceMappedId": "Orphanet_2337", "variantHgvsId": "NC_000017.11:g.3513833C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000341792", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000167723", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_3513833_C_T", "variantRsId": "rs146188912", "cohortPhenotypes": ["Isolated focal non-epidermolytic palmoplantar keratoderma", "Palmoplantar keratoderma, nonepidermolytic, focal 2"], "diseaseFromSource": "Isolated focal non-epidermolytic palmoplantar keratoderma", "diseaseFromSourceId": "C4225339", "diseaseFromSourceMappedId": "Orphanet_2337", "variantHgvsId": "NC_000017.11:g.3513833C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000357267", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_48487155_C_T", "variantRsId": "rs137854475", "cohortPhenotypes": ["Acromicric dysplasia", "Acromicric skeletal dysplasia"], "diseaseFromSource": "Acromicric dysplasia", "diseaseFromSourceId": "C0265287", "diseaseFromSourceMappedId": "MONDO_0007055", "variantHgvsId": "NC_000015.10:g.48487155C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000363434", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "14_23429785_G_A", "variantRsId": "rs2231126", "cohortPhenotypes": ["Laing distal myopathy", "Laing early-onset distal myopathy", "MYH7-related skeletal myopathy", "MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT", "MYOPATHY, LATE DISTAL HEREDITARY", "Myopathy, distal, 1"], "diseaseFromSource": "MYH7-related skeletal myopathy", "diseaseFromSourceId": "C4552004", "diseaseFromSourceMappedId": "MONDO_0008050", "variantHgvsId": "NC_000014.9:g.23429785G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000363434", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "14_23429785_G_A", "variantRsId": "rs2231126", "cohortPhenotypes": ["Laing distal myopathy", "Laing early-onset distal myopathy", "MYH7-related skeletal myopathy", "MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT", "MYOPATHY, LATE DISTAL HEREDITARY", "Myopathy, distal, 1"], "diseaseFromSource": "MYH7-related skeletal myopathy", "diseaseFromSourceId": "C4552004", "diseaseFromSourceMappedId": "EFO_0004145", "variantHgvsId": "NC_000014.9:g.23429785G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign", "likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000363966", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000107736", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_71812008_T_C", "variantRsId": "rs45583140", "cohortPhenotypes": ["Dystrophia retinae pigmentosa-dysostosis syndrome", "Graefe-Usher syndrome", "Hallgren syndrome", "RETINITIS PIGMENTOSA 21", "RETINITIS PIGMENTOSA 8", "RP21, formerly", "RP8, formerly", "Retinitis pigmentosa 21, formerly", "Retinitis pigmentosa 8, formerly", "Retinitis pigmentosa-deafness syndrome"], "diseaseFromSource": "Retinitis pigmentosa-deafness syndrome", "diseaseFromSourceId": "C5779620", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000010.11:g.71812008T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000396653", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000079805", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "19_10759823_C_A", "variantRsId": "rs147026993", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B", "CMT DI1", "Charcot-Marie-Tooth disease dominant intermediate 1", "Charcot-Marie-Tooth disease dominant intermediate B", "Charcot-Marie-Tooth disease dominant intermediate I"], "diseaseFromSource": "Charcot-Marie-Tooth disease dominant intermediate B", "diseaseFromSourceId": "C1847902", "diseaseFromSourceMappedId": "MONDO_0011674", "variantHgvsId": "NC_000019.10:g.10759823C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting classifications", "studyId": "RCV000410484", "releaseDate": "2017-01-06", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37025958_G_C", "variantRsId": "rs63750527", "cohortPhenotypes": ["COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2", "Colorectal cancer, hereditary nonpolyposis, type 2", "Hereditary non-polyposis colorectal cancer, type 2", "Lynch syndrome II", "MLH1-Related Lynch Syndrome"], "diseaseFromSource": "Colorectal cancer, hereditary nonpolyposis, type 2", "diseaseFromSourceId": "C1333991", "diseaseFromSourceMappedId": "MONDO_0005835", "variantHgvsId": "NC_000003.12:g.37025958G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting classifications", "studyId": "RCV000410484", "releaseDate": "2017-01-06", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37025958_G_C", "variantRsId": "rs63750527", "cohortPhenotypes": ["COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2", "Colorectal cancer, hereditary nonpolyposis, type 2", "Hereditary non-polyposis colorectal cancer, type 2", "Lynch syndrome II", "MLH1-Related Lynch Syndrome"], "diseaseFromSource": "Colorectal cancer, hereditary nonpolyposis, type 2", "diseaseFromSourceId": "C1333991", "diseaseFromSourceMappedId": "Orphanet_144", "variantHgvsId": "NC_000003.12:g.37025958G>C"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000410953", "releaseDate": "2017-01-07", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_112815536_G_C", "variantRsId": "rs760059672", "cohortPhenotypes": ["APC-Associated Polyposis Conditions", "FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED", "Familial adenomatous polyposis 1", "POLYPOSIS, ADENOMATOUS INTESTINAL"], "diseaseFromSource": "Familial adenomatous polyposis 1", "diseaseFromSourceId": "C2713442", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112815536G>C"} +{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000419796", "releaseDate": "2017-03-08", "targetFromSourceId": "ENSG00000068078", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_1804372_A_G", "variantRsId": "rs121913485", "cohortPhenotypes": ["Carcinoma"], "diseaseFromSource": "Carcinoma", "diseaseFromSourceId": "C0007097", "diseaseFromSourceMappedId": "EFO_0000313", "variantHgvsId": "NC_000004.12:g.1804372A>G"} +{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000420510", "releaseDate": "2017-03-08", "targetFromSourceId": "ENSG00000141510", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_7675076_T_G", "variantRsId": "rs1057519991", "cohortPhenotypes": ["Malignant neoplasm of body of uterus"], "diseaseFromSource": "Malignant neoplasm of body of uterus", "diseaseFromSourceId": "C0153574", "diseaseFromSourceMappedId": "EFO_0003859", "variantHgvsId": "NC_000017.11:g.7675076T>G"} +{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000422074", "releaseDate": "2017-03-08", "targetFromSourceId": "ENSG00000141510", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_7675209_A_C", "variantRsId": "rs1057519975", "cohortPhenotypes": ["Lung cancer, squamous cell, somatic", "Squamous cell carcinoma of lung", "Squamous cell lung carcinoma"], "diseaseFromSource": "Squamous cell lung carcinoma", "diseaseFromSourceId": "C0149782", "diseaseFromSourceMappedId": "EFO_0000708", "variantHgvsId": "NC_000017.11:g.7675209A>C"} +{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000426907", "releaseDate": "2017-03-08", "targetFromSourceId": "ENSG00000141510", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_7674241_G_A", "variantRsId": "rs28934573", "cohortPhenotypes": ["Uterine carcinosarcoma"], "diseaseFromSource": "Uterine carcinosarcoma", "diseaseFromSourceId": "C0280630", "diseaseFromSourceMappedId": "EFO_1000613", "variantHgvsId": "NC_000017.11:g.7674241G>A"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000445373", "releaseDate": "2017-03-14", "targetFromSourceId": "ENSG00000109501", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_6302247_C_T", "variantRsId": "rs35932623", "cohortPhenotypes": ["Monogenic diabetes"], "diseaseFromSource": "Monogenic diabetes", "diseaseFromSourceId": "C3888631", "diseaseFromSourceMappedId": "EFO_1001511", "variantHgvsId": "NC_000004.12:g.6302247C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000457965", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000127616", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_11060124_G_A", "variantRsId": "rs370590601", "cohortPhenotypes": ["Rhabdoid tumor predisposition syndrome 2"], "diseaseFromSource": "Rhabdoid tumor predisposition syndrome 2", "diseaseFromSourceId": "C2750074", "diseaseFromSourceMappedId": "MONDO_0016473", "variantHgvsId": "NC_000019.10:g.11060124G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000458724", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000107779", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_86912268_C_T", "variantRsId": "rs587782231", "cohortPhenotypes": ["Juvenile polyposis syndrome", "Polyposis familial of entire gastrointestinal tract", "Polyposis juvenile intestinal"], "diseaseFromSource": "Juvenile polyposis syndrome", "diseaseFromSourceId": "C0345893", "diseaseFromSourceMappedId": "MONDO_0017380", "variantHgvsId": "NC_000010.11:g.86912268C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000468059", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000134371", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_193203811_G_A", "variantRsId": "rs149875598", "cohortPhenotypes": ["CDC73-Related Parathyroid Carcinoma", "Parathyroid cancer", "Parathyroid carcinoma"], "diseaseFromSource": "Parathyroid carcinoma", "diseaseFromSourceId": "C0687150", "diseaseFromSourceMappedId": "EFO_1001087", "variantHgvsId": "NC_000001.11:g.193203811G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000462260", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "13_32333266_T_C", "variantRsId": "rs11571642", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000013.11:g.32333266T>C"} +{"alleleOrigins": ["germline", "inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000467266", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "17_31201471_C_T", "variantRsId": "rs764079291", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31201471C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000468059", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000134371", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_193203811_G_A", "variantRsId": "rs149875598", "cohortPhenotypes": ["CDC73-Related Parathyroid Carcinoma", "Parathyroid cancer", "Parathyroid carcinoma", "Parathyroid gland carcinoma"], "diseaseFromSource": "Parathyroid carcinoma", "diseaseFromSourceId": "C0687150", "diseaseFromSourceMappedId": "EFO_1001087", "variantHgvsId": "NC_000001.11:g.193203811G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000468502", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_31226668_C_T", "variantRsId": "rs1060503901", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31226668C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting classifications", "studyId": "RCV000472629", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000148400", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_136505739_G_A", "variantRsId": "rs367710569", "cohortPhenotypes": ["Adams-Oliver syndrome 5"], "diseaseFromSource": "Adams-Oliver syndrome 5", "diseaseFromSourceId": "C4014970", "diseaseFromSourceMappedId": "MONDO_0007034", "variantHgvsId": "NC_000009.12:g.136505739G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000475235", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000104320", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_89970393_C_A", "variantRsId": "rs1060503475", "cohortPhenotypes": ["Ataxia telangiectasia variant V1", "Berlin Breakage syndrome", "IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY", "Immunodeficiency, microcephaly with normal intelligence", "Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies", "Microcephaly, normal intelligence and immunodeficiency", "Nijmegen breakage syndrome", "Nonsyndromal microcephaly autosomal recessive with normal intelligence", "SEEMANOVA SYNDROME II", "Seemanova syndrome 2"], "diseaseFromSource": "Microcephaly, normal intelligence and immunodeficiency", "diseaseFromSourceId": "C0398791", "diseaseFromSourceMappedId": "MONDO_0009623", "variantHgvsId": "NC_000008.11:g.89970393C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000476699", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000078328", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_7518261_C_T", "variantRsId": "rs151214012", "cohortPhenotypes": ["EIG", "Generalised epilepsy", "Idiopathic generalized epilepsy"], "diseaseFromSource": "Idiopathic generalized epilepsy", "diseaseFromSourceId": "C0270850", "diseaseFromSourceMappedId": "EFO_0005917", "variantHgvsId": "NC_000016.10:g.7518261C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000477476", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000159251", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_34792524_A_G", "variantRsId": "rs730880409", "cohortPhenotypes": ["ACTC1-Related Familial Hypertrophic Cardiomyopathy", "Atrial septal defect 5", "Dilated cardiomyopathy 1R", "Familial hypertrophic cardiomyopathy 11", "Hypertrophic cardiomyopathy 11"], "diseaseFromSource": "Hypertrophic cardiomyopathy 11", "diseaseFromSourceId": "C2677506", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000015.10:g.34792524A>G"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000477476", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000159251", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_34792524_A_G", "variantRsId": "rs730880409", "cohortPhenotypes": ["ACTC1-Related Familial Hypertrophic Cardiomyopathy", "Atrial septal defect 5", "Dilated cardiomyopathy 1R", "Familial hypertrophic cardiomyopathy 11", "Hypertrophic cardiomyopathy 11"], "diseaseFromSource": "Hypertrophic cardiomyopathy 11", "diseaseFromSourceId": "C2677506", "diseaseFromSourceMappedId": "MONDO_0012799", "variantHgvsId": "NC_000015.10:g.34792524A>G"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000477476", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000159251", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_34792524_A_G", "variantRsId": "rs730880409", "cohortPhenotypes": ["ACTC1-Related Familial Hypertrophic Cardiomyopathy", "Atrial septal defect 5", "Dilated cardiomyopathy 1R", "Familial hypertrophic cardiomyopathy 11", "Hypertrophic cardiomyopathy 11"], "diseaseFromSource": "Dilated cardiomyopathy 1R", "diseaseFromSourceId": "C3150681", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000015.10:g.34792524A>G"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000477476", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000159251", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_34792524_A_G", "variantRsId": "rs730880409", "cohortPhenotypes": ["ACTC1-Related Familial Hypertrophic Cardiomyopathy", "Atrial septal defect 5", "Dilated cardiomyopathy 1R", "Familial hypertrophic cardiomyopathy 11", "Hypertrophic cardiomyopathy 11"], "diseaseFromSource": "Atrial septal defect 5", "diseaseFromSourceId": "C2748552", "diseaseFromSourceMappedId": "EFO_1000825", "variantHgvsId": "NC_000015.10:g.34792524A>G"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000504821", "releaseDate": "2017-09-09", "targetFromSourceId": "ENSG00000188452", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_181604002_G_T", "variantRsId": "rs569826109", "cohortPhenotypes": ["Retinal dystrophy"], "diseaseFromSource": "Retinal dystrophy", "diseaseFromSourceId": "C0854723", "diseaseFromSourceMappedId": "Orphanet_71862", "variantHgvsId": "NC_000002.12:g.181604002G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000525507", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000054654", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_63967778_C_T", "variantRsId": "rs374073818", "cohortPhenotypes": ["EMERY-DREIFUSS MUSCULAR DYSTROPHY 5", "Emery-Dreifuss muscular dystrophy 5, autosomal dominant"], "diseaseFromSource": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant", "diseaseFromSourceId": "C2751805", "diseaseFromSourceMappedId": "MONDO_0016830", "variantHgvsId": "NC_000014.9:g.63967778C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000530510", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000168394", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_32847125_C_T", "variantRsId": "rs41551515", "cohortPhenotypes": ["BARE LYMPHOCYTE SYNDROME, TYPE I", "BLS, TYPE I", "Bare lymphocyte syndrome type 1", "HLA CLASS I DEFICIENCY", "MHC class I deficiency"], "diseaseFromSource": "MHC class I deficiency", "diseaseFromSourceId": "C1858266", "diseaseFromSourceMappedId": "Orphanet_572", "variantHgvsId": "NC_000006.12:g.32847125C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000530510", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000240065", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "6_32847125_C_T", "variantRsId": "rs41551515", "cohortPhenotypes": ["BARE LYMPHOCYTE SYNDROME, TYPE I", "BLS, TYPE I", "Bare lymphocyte syndrome type 1", "HLA CLASS I DEFICIENCY", "MHC class I deficiency"], "diseaseFromSource": "MHC class I deficiency", "diseaseFromSourceId": "C1858266", "diseaseFromSourceMappedId": "Orphanet_572", "variantHgvsId": "NC_000006.12:g.32847125C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000530510", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000168394", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_32847125_C_T", "variantRsId": "rs41551515", "cohortPhenotypes": ["BARE LYMPHOCYTE SYNDROME, TYPE I", "BLS, TYPE I", "Bare lymphocyte syndrome type 1", "HLA CLASS I DEFICIENCY", "MHC class I deficiency"], "diseaseFromSource": "MHC class I deficiency", "diseaseFromSourceId": "C1858266", "diseaseFromSourceMappedId": "MONDO_0011476", "variantHgvsId": "NC_000006.12:g.32847125C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000530510", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000240065", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "6_32847125_C_T", "variantRsId": "rs41551515", "cohortPhenotypes": ["BARE LYMPHOCYTE SYNDROME, TYPE I", "BLS, TYPE I", "Bare lymphocyte syndrome type 1", "HLA CLASS I DEFICIENCY", "MHC class I deficiency"], "diseaseFromSource": "MHC class I deficiency", "diseaseFromSourceId": "C1858266", "diseaseFromSourceMappedId": "MONDO_0011476", "variantHgvsId": "NC_000006.12:g.32847125C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000540285", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_23425357_C_A", "variantRsId": "rs397516142", "cohortPhenotypes": ["Hypertrophic cardiomyopathy"], "diseaseFromSource": "Hypertrophic cardiomyopathy", "diseaseFromSourceId": "C0007194", "diseaseFromSourceMappedId": "EFO_0000538", "variantHgvsId": "NC_000014.9:g.23425357C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000545691", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000070748", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_49625509_G_A", "variantRsId": "rs114090981", "cohortPhenotypes": ["Congenital myasthenic syndrome 6", "Congenital myasthenic syndrome with episodic apnea", "FIMG2 (formerly)", "Familial infantile myasthenia", "MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC", "Myasthenic syndrome congenital associated with episodic apnea", "Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea"], "diseaseFromSource": "Familial infantile myasthenia", "diseaseFromSourceId": "C0393929", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000010.11:g.49625509G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000491359", "releaseDate": "2017-06-25", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "16_2088292_CCGGCTCCGCCACATCAAG_C", "variantRsId": "rs137854218", 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"diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32394828A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "reviewed by expert panel", "studyId": "RCV000495697", "releaseDate": "2017-07-17", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "13_32394828_A_G", "variantRsId": "rs201172050", "cohortPhenotypes": ["Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "MONDO_0012933", "variantHgvsId": "NC_000013.11:g.32394828A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria 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["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000555260", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000142208", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "14_104780089_C_T", "variantRsId": "rs560243859", "cohortPhenotypes": ["Cowden syndrome 6"], "diseaseFromSource": "Cowden syndrome 6", "diseaseFromSourceId": "C3554519", "diseaseFromSourceMappedId": "MONDO_0016063", "variantHgvsId": "NC_000014.9:g.104780089C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000567185", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000127616", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_11058800_A_G", "variantRsId": 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"eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000561170", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000133030", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_17213710_T_C", "variantRsId": "rs749359334", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.17213710T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000561170", 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"diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000014.9:g.95124382C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000572856", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_108343368_G_A", "variantRsId": "rs1555135878", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000011.10:g.108343368G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000572856", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000166323", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "11_108343368_G_A", "variantRsId": "rs1555135878", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000011.10:g.108343368G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000573090", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "16_2084230_G_T", "variantRsId": "rs760704956", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000016.10:g.2084230G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting classifications", "studyId": "RCV000574011", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_32340050_G_A", "variantRsId": "rs371189402", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000013.11:g.32340050G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000615626", "releaseDate": "2018-04-09", "targetFromSourceId": "ENSG00000145362", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "4_113358266_A_G", "variantRsId": "rs10013743", "cohortPhenotypes": ["ANKYRIN-B SYNDROME", "Cardiac arrhythmia, ankyrin-B-related"], "diseaseFromSource": "Cardiac arrhythmia, ankyrin-B-related", "diseaseFromSourceId": "C1970119", "variantHgvsId": "NC_000004.12:g.113358266A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000618080", "releaseDate": "2018-04-14", "targetFromSourceId": "ENSG00000138347", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_68122098_G_A", "variantRsId": "rs372218308", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000010.11:g.68122098G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000621747", "releaseDate": "2018-04-14", "targetFromSourceId": "ENSG00000134755", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_31086611_C_T", "variantRsId": "rs145560678", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000018.10:g.31086611C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000622503", "releaseDate": "2018-04-15", "targetFromSourceId": "ENSG00000185339", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "22_30614483_C_T", "variantRsId": "rs1456983114", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000022.11:g.30614483C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000642141", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000171723", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_66681128_A_G", "variantRsId": "rs144247888", "cohortPhenotypes": ["Molybdenum cofactor deficiency C", "Molybdenum cofactor deficiency, complementation group C", "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C"], "diseaseFromSource": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C", "diseaseFromSourceId": "C1854990", "diseaseFromSourceMappedId": "Orphanet_833", "variantHgvsId": "NC_000014.9:g.66681128A>G"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000642141", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000171723", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_66681128_A_G", "variantRsId": "rs144247888", "cohortPhenotypes": ["Molybdenum cofactor deficiency C", "Molybdenum cofactor deficiency, complementation group C", "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C"], "diseaseFromSource": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C", "diseaseFromSourceId": "C1854990", "diseaseFromSourceMappedId": "MONDO_0014212", "variantHgvsId": "NC_000014.9:g.66681128A>G"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000644532", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000169174", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_55039937_G_A", "variantRsId": "rs371030381", "cohortPhenotypes": ["Familial Hypercholesterolemia, Autosomal Dominant, 3", "Familial hypercholesterolemia 3", "Hypercholesterolemia, autosomal dominant, 3"], "diseaseFromSource": "Hypercholesterolemia, autosomal dominant, 3", "diseaseFromSourceId": "C1863551", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000001.11:g.55039937G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000647147", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000203867", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_110812366_TC_AG", "variantRsId": "rs1554842673", "cohortPhenotypes": ["Dilated cardiomyopathy 1DD"], "diseaseFromSource": "Dilated cardiomyopathy 1DD", "diseaseFromSourceId": "C2750995", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000010.11:g.110812366_110812367delinsAG"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000655236", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000148400", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_136496841_C_T", "variantRsId": "rs587778573", "cohortPhenotypes": ["Adams-Oliver syndrome 5"], "diseaseFromSource": "Adams-Oliver syndrome 5", "diseaseFromSourceId": "C4014970", "diseaseFromSourceMappedId": "MONDO_0007034", "variantHgvsId": "NC_000009.12:g.136496841C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000687401", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000065534", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_123640393_G_C", "variantRsId": "rs1399378417", "cohortPhenotypes": ["AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM", "Aortic aneurysm, familial thoracic 7"], "diseaseFromSource": "Aortic aneurysm, familial thoracic 7", "diseaseFromSourceId": "C3151077", "diseaseFromSourceMappedId": "MONDO_0019625", "variantHgvsId": "NC_000003.12:g.123640393G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic", "pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000674492", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000197299", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "15_90803668_CT_C", "variantRsId": "rs1555424311", "cohortPhenotypes": ["Bloom syndrome", "Bloom-Torre-Machacek syndrome", "Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability"], "diseaseFromSource": "Bloom syndrome", "diseaseFromSourceId": "C0005859", "diseaseFromSourceMappedId": "MONDO_0008876", "variantHgvsId": "NC_000015.10:g.90803670del"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000689036", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "MONDO_0007424", "variantHgvsId": "NC_000005.10:g.141573998GAG[16]"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000689036", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000005.10:g.141573998GAG[16]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000689036", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "diseaseFromSourceId": "C4225261", "diseaseFromSourceMappedId": "MONDO_0014714", "variantHgvsId": "NC_000005.10:g.141573998GAG[16]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000701262", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000039068", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_68823467_C_A", "variantRsId": "rs1490366214", "cohortPhenotypes": ["DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME", "GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR", "Hereditary diffuse gastric adenocarcinoma", "Hereditary diffuse gastric cancer"], "diseaseFromSource": "Hereditary diffuse gastric adenocarcinoma", "diseaseFromSourceId": "C1708349", "diseaseFromSourceMappedId": "MONDO_0007648", "variantHgvsId": "NC_000016.10:g.68823467C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000701262", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000039068", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_68823467_C_A", "variantRsId": "rs1490366214", "cohortPhenotypes": ["DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME", "GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR", "Hereditary diffuse gastric adenocarcinoma", "Hereditary diffuse gastric cancer"], "diseaseFromSource": "Hereditary diffuse gastric adenocarcinoma", "diseaseFromSourceId": "C1708349", "diseaseFromSourceMappedId": "Orphanet_26106", "variantHgvsId": "NC_000016.10:g.68823467C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000717259", "releaseDate": "2018-11-08", "targetFromSourceId": "ENSG00000198198", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_43424857_A_G", "variantRsId": "rs749314293", "cohortPhenotypes": ["Seizure", "Seizures"], "diseaseFromSource": "Seizure", "diseaseFromSourceId": "C0036572", "diseaseFromSourceMappedId": "HP_0001250", "variantHgvsId": "NC_000001.11:g.43424857A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["benign", "likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000790882", "releaseDate": "2019-08-04", "targetFromSourceId": "ENSG00000112761", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_112061190_G_A", "variantRsId": "rs147337485", "cohortPhenotypes": ["Autosomal recessive spondyloepiphyseal dysplasia tarda", "Progressive Pseudorheumatoid Arthropathy of Childhood", "Progressive pseudorheumatoid dysplasia", "SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY", "Spondyloepiphyseal dysplasia tarda progressive arthropathy"], "diseaseFromSource": "Progressive pseudorheumatoid dysplasia", "diseaseFromSourceId": "C0432215", "diseaseFromSourceMappedId": "MONDO_0008827", "variantHgvsId": "NC_000006.12:g.112061190G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000792070", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000107719", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "10_70598760_C_T", "variantRsId": "rs145234214", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 2"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 2", "diseaseFromSourceId": "C1863727", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000010.11:g.70598760C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000792070", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000180644", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_70598760_C_T", "variantRsId": "rs145234214", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 2"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 2", "diseaseFromSourceId": "C1863727", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000010.11:g.70598760C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000792965", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000115085", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_97734565_C_T", "variantRsId": "rs903840321", "cohortPhenotypes": ["ZAP70-Related Severe Combined Immunodeficiency"], "diseaseFromSource": "ZAP70-Related Severe Combined Immunodeficiency", "diseaseFromSourceId": "C2931299", "diseaseFromSourceMappedId": "MONDO_0010023", "variantHgvsId": "NC_000002.12:g.97734565C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000689036", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "diseaseFromSourceId": "C5567650", "diseaseFromSourceMappedId": "MONDO_0014714", "variantHgvsId": "NC_000005.10:g.141573998GAG[16]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000700548", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000198400", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_156868589_G_A", "variantRsId": "rs540751200", "cohortPhenotypes": ["FAMILIAL DYSAUTONOMIA, TYPE II", "Familial dysautonomia, type 2", "HSAN 4", "HSAN Type IV", "Hereditary Sensory and Autonomic Neuropathy Type IV", "Hereditary insensitivity to pain with anhidrosis", "Hereditary sensory and autonomic neuropathy 4", "Insensitivity to pain, congenital, with anhidrosis", "Neuropathy, congenital sensory, with anhidrosis"], "diseaseFromSource": "Hereditary insensitivity to pain with anhidrosis", "diseaseFromSourceId": "C0020074", "diseaseFromSourceMappedId": "MONDO_0009746", "variantHgvsId": "NC_000001.11:g.156868589G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000701650", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_32354926_C_G", "variantRsId": "rs431825349", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32354926C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000701650", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_32354926_C_G", "variantRsId": "rs431825349", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "MONDO_0003582", "variantHgvsId": "NC_000013.11:g.32354926C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000771326", "releaseDate": "2019-05-20", "targetFromSourceId": "ENSG00000169174", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_55061466_C_G", "variantRsId": "rs529912877", "cohortPhenotypes": ["Familial hypercholesterolemia"], "diseaseFromSource": "Familial hypercholesterolemia", "diseaseFromSourceId": "C0020445", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000001.11:g.55061466C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000772538", "releaseDate": "2019-05-20", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_214780874_TAG_T", "variantRsId": "rs1482641121", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214780876_214780877del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000775105", "releaseDate": "2019-05-20", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "2_214745083_C_T", "variantRsId": "rs878854003", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214745083C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000791723", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000189056", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_103495763_C_T", "variantRsId": "rs368572382", "cohortPhenotypes": ["Familial temporal lobe epilepsy 7", "Lissencephaly 2", "Lissencephaly 2 (Norman-Roberts type)", "Lissencephaly syndrome Norman-Roberts type", "Norman-Roberts syndrome"], "diseaseFromSource": "Norman-Roberts syndrome", "diseaseFromSourceId": "C0796089", "diseaseFromSourceMappedId": "Orphanet_48471", "variantHgvsId": "NC_000007.14:g.103495763C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000791723", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000189056", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_103495763_C_T", "variantRsId": "rs368572382", "cohortPhenotypes": ["Familial temporal lobe epilepsy 7", "Lissencephaly 2", "Lissencephaly 2 (Norman-Roberts type)", "Lissencephaly syndrome Norman-Roberts type", "Norman-Roberts syndrome"], "diseaseFromSource": "Norman-Roberts syndrome", "diseaseFromSourceId": "C0796089", "diseaseFromSourceMappedId": "Orphanet_89844", "variantHgvsId": "NC_000007.14:g.103495763C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000791723", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000189056", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_103495763_C_T", "variantRsId": "rs368572382", "cohortPhenotypes": ["Familial temporal lobe epilepsy 7", "Lissencephaly 2", "Lissencephaly 2 (Norman-Roberts type)", "Lissencephaly syndrome Norman-Roberts type", "Norman-Roberts syndrome"], "diseaseFromSource": "Familial temporal lobe epilepsy 7", "diseaseFromSourceId": "C4225327", "diseaseFromSourceMappedId": "MONDO_0014639", "variantHgvsId": "NC_000007.14:g.103495763C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000797621", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_31181711_C_G", "variantRsId": "rs1160353919", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31181711C>G"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000800851", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000188157", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_1043265_G_A", "variantRsId": "rs148949051", "cohortPhenotypes": ["Congenital myasthenic syndrome 8", "MYASTHENIC SYNDROME, CONGENITAL, DUE TO AGRIN DEFICIENCY", "Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects"], "diseaseFromSource": "Congenital myasthenic syndrome 8", "diseaseFromSourceId": "C3808739", "variantHgvsId": "NC_000001.11:g.1043265G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000806813", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000197299", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_90749723_A_G", "variantRsId": "rs749633106", "cohortPhenotypes": ["Bloom syndrome", "Bloom-Torre-Machacek syndrome", "Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability", "MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 1"], "diseaseFromSource": "Bloom syndrome", "diseaseFromSourceId": "C0005859", "diseaseFromSourceMappedId": "MONDO_0008876", "variantHgvsId": "NC_000015.10:g.90749723A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000809549", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000100150", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_31879595_G_C", "variantRsId": "rs1602677998", "cohortPhenotypes": ["Familial focal epilepsy with variable foci"], "diseaseFromSource": "Familial focal epilepsy with variable foci", "diseaseFromSourceId": "C1858477", "diseaseFromSourceMappedId": "MONDO_0020310", "variantHgvsId": "NC_000022.11:g.31879595G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000817413", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000127666", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_4816746_C_G", "variantRsId": "rs1284363590", "cohortPhenotypes": ["ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6", "Herpes simplex encephalitis, susceptibility to, 4"], "diseaseFromSource": "Herpes simplex encephalitis, susceptibility to, 4", "diseaseFromSourceId": "C3553869", "diseaseFromSourceMappedId": "MONDO_0013921", "variantHgvsId": "NC_000019.10:g.4816746C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000817413", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000127666", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_4816746_C_G", "variantRsId": "rs1284363590", "cohortPhenotypes": ["ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6", "Herpes simplex encephalitis, susceptibility to, 4"], "diseaseFromSource": "Herpes simplex encephalitis, susceptibility to, 4", "diseaseFromSourceId": "C3553869", "diseaseFromSourceMappedId": "Orphanet_1930", "variantHgvsId": "NC_000019.10:g.4816746C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000818650", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000245848", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_33301525_C_A", "variantRsId": "rs1600021258", "cohortPhenotypes": ["AML adult", "Acute granulocytic leukemia", "Acute myelogenous leukemia", "Acute myeloid leukemia", "Acute myeloid leukemia, adult", "Acute non-lymphocytic leukemia", "Leukemia, acute myelogenous, somatic", "Leukemia, acute myeloid, somatic"], "diseaseFromSource": "Acute myeloid leukemia", "diseaseFromSourceId": "C0023467", "diseaseFromSourceMappedId": "EFO_0000222", "variantHgvsId": "NC_000019.10:g.33301525C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000820449", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000169174", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "1_55039879_A_ACTGCTGCTGCTG", "variantRsId": "rs35574083", "cohortPhenotypes": ["Familial Hypercholesterolemia, Autosomal Dominant, 3", "Familial hypercholesterolemia 3", "Hypercholesterolemia, autosomal dominant, 3"], "diseaseFromSource": "Hypercholesterolemia, autosomal dominant, 3", "diseaseFromSourceId": "C1863551", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000001.11:g.55039882GCT[11]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000822426", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000107719", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "10_70600577_G_A", "variantRsId": "rs1589233312", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 2"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 2", "diseaseFromSourceId": "C1863727", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000010.11:g.70600577G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000822426", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000180644", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_70600577_G_A", "variantRsId": "rs1589233312", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 2"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 2", "diseaseFromSourceId": "C1863727", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000010.11:g.70600577G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000861746", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000100523", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "14_53152762_T_TGCCGCCGCCGCC", "variantRsId": "rs55671452", "cohortPhenotypes": ["Hereditary spastic paraplegia 28", "Spastic paraplegia 28, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 28", "diseaseFromSourceId": "C1836295", "diseaseFromSourceMappedId": "MONDO_0012256", "variantHgvsId": "NC_000014.9:g.53152765_53152767CGC[8]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000861746", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000100523", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "14_53152762_T_TGCCGCCGCCGCC", "variantRsId": "rs55671452", "cohortPhenotypes": ["Hereditary spastic paraplegia 28", "Spastic paraplegia 28, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 28", "diseaseFromSourceId": "C1836295", "diseaseFromSourceMappedId": "Orphanet_101008", "variantHgvsId": "NC_000014.9:g.53152765_53152767CGC[8]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000869437", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178725603_G_A", "variantRsId": "rs374731328", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Dilated cardiomyopathy 1G", "diseaseFromSourceId": "C1858763", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000002.12:g.178725603G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000869437", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178725603_G_A", "variantRsId": "rs374731328", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "MONDO_0012127", "variantHgvsId": "NC_000002.12:g.178725603G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000869437", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178725603_G_A", "variantRsId": "rs374731328", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.178725603G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000876785", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000115267", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_162281445_A_G", "variantRsId": "rs138740030", "cohortPhenotypes": ["Aicardi-Goutieres syndrome 7", "Singleton-Merten syndrome 1", "Syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition", "Widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness"], "diseaseFromSource": "Singleton-Merten syndrome 1", "diseaseFromSourceId": "C4225427", "diseaseFromSourceMappedId": "MONDO_0008429", "variantHgvsId": "NC_000002.12:g.162281445A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000876785", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000115267", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_162281445_A_G", "variantRsId": "rs138740030", "cohortPhenotypes": ["Aicardi-Goutieres syndrome 7", "Singleton-Merten syndrome 1", "Syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition", "Widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness"], "diseaseFromSource": "Aicardi-Goutieres syndrome 7", "diseaseFromSourceId": "C3888244", "diseaseFromSourceMappedId": "Orphanet_51", "variantHgvsId": "NC_000002.12:g.162281445A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000877114", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240767003_G_A", "variantRsId": "rs754916421", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 30", "diseaseFromSourceId": "C5235139", "diseaseFromSourceMappedId": "MONDO_0012476", "variantHgvsId": "NC_000002.12:g.240767003G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000877114", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240767003_G_A", "variantRsId": "rs754916421", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 30", "diseaseFromSourceId": "C5235139", "diseaseFromSourceMappedId": "Orphanet_101010", "variantHgvsId": "NC_000002.12:g.240767003G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000877114", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240767003_G_A", "variantRsId": "rs754916421", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Neuropathy, hereditary sensory, type 2C", "diseaseFromSourceId": "C3280168", "diseaseFromSourceMappedId": "Orphanet_970", "variantHgvsId": "NC_000002.12:g.240767003G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000877114", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240767003_G_A", "variantRsId": "rs754916421", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH 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"diseaseFromSourceId": "C1866174", "diseaseFromSourceMappedId": "MONDO_0011152", "variantHgvsId": "NC_000001.11:g.119723381C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000880956", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000092621", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_119723381_C_G", "variantRsId": "rs182600362", "cohortPhenotypes": ["PHGDH deficiency", "Phosphoglycerate dehydrogenase deficiency"], "diseaseFromSource": "PHGDH deficiency", "diseaseFromSourceId": "C1866174", "diseaseFromSourceMappedId": "Orphanet_79351", "variantHgvsId": "NC_000001.11:g.119723381C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000890830", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000174990", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_87926844_G_T", "variantRsId": "rs377135599", "cohortPhenotypes": ["Carbonic anhydrase VA deficiency, hyperammonemia due to", "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"], "diseaseFromSource": "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency", "diseaseFromSourceId": "C3810404", "diseaseFromSourceMappedId": "Orphanet_401948", "variantHgvsId": "NC_000016.10:g.87926844G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000890830", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000174990", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_87926844_G_T", "variantRsId": "rs377135599", "cohortPhenotypes": ["Carbonic anhydrase VA deficiency, hyperammonemia due to", "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"], "diseaseFromSource": "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency", "diseaseFromSourceId": "C3810404", "diseaseFromSourceMappedId": "MONDO_0014332", "variantHgvsId": "NC_000016.10:g.87926844G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000918971", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000102144", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "X_78011237_A_G", "variantRsId": "rs781900997", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Menkes kinky-hair syndrome", "diseaseFromSourceId": "C0022716", "diseaseFromSourceMappedId": "MONDO_0010651", "variantHgvsId": "NC_000023.11:g.78011237A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000918971", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000165240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_78011237_A_G", "variantRsId": "rs781900997", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Menkes kinky-hair syndrome", "diseaseFromSourceId": "C0022716", "diseaseFromSourceMappedId": "MONDO_0010651", "variantHgvsId": "NC_000023.11:g.78011237A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000918971", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000102144", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "X_78011237_A_G", "variantRsId": "rs781900997", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Cutis laxa, X-linked", "diseaseFromSourceId": "C0268353", "diseaseFromSourceMappedId": "MONDO_0010572", "variantHgvsId": "NC_000023.11:g.78011237A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000918971", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000165240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_78011237_A_G", "variantRsId": "rs781900997", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Cutis laxa, X-linked", "diseaseFromSourceId": "C0268353", "diseaseFromSourceMappedId": "MONDO_0010572", "variantHgvsId": "NC_000023.11:g.78011237A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000918971", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000102144", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "X_78011237_A_G", "variantRsId": "rs781900997", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "X-linked distal spinal muscular atrophy type 3", "diseaseFromSourceId": "C1845359", "diseaseFromSourceMappedId": "MONDO_0010338", "variantHgvsId": "NC_000023.11:g.78011237A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000918971", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000165240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_78011237_A_G", "variantRsId": "rs781900997", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "X-linked distal spinal muscular atrophy type 3", "diseaseFromSourceId": "C1845359", "diseaseFromSourceMappedId": "MONDO_0010338", "variantHgvsId": "NC_000023.11:g.78011237A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000921425", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000171862", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_87925528_G_A", "variantRsId": "rs972166984", "cohortPhenotypes": ["PTEN Hamartomatous Tumour Syndrome", "PTEN hamartoma tumor syndrome"], "diseaseFromSource": "PTEN hamartoma tumor syndrome", "diseaseFromSourceId": "C1959582", "diseaseFromSourceMappedId": "MONDO_0017623", "variantHgvsId": "NC_000010.11:g.87925528G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000932997", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000157540", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "21_37512066_TCACCACCACCAC_T", "variantRsId": "rs760576043", "cohortPhenotypes": ["DYRK1A-related intellectual disability syndrome", "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7"], "diseaseFromSource": "DYRK1A-related intellectual disability syndrome", "diseaseFromSourceId": "C3279839", "diseaseFromSourceMappedId": "MONDO_0013578", "variantHgvsId": "NC_000021.9:g.37512069_37512071CCA[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000964608", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000196557", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "16_1206297_C_A", "variantRsId": "rs367549572", "cohortPhenotypes": ["ALDOSTERONISM, PRIMARY, AND HYPERTENSION", "EIG", "FH IV", "Generalised epilepsy", "Hyperaldosteronism, familial, type IV", "Idiopathic generalized epilepsy"], "diseaseFromSource": "Idiopathic generalized epilepsy", "diseaseFromSourceId": "C0270850", "diseaseFromSourceMappedId": "EFO_0005917", "variantHgvsId": "NC_000016.10:g.1206297C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000964608", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000196557", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "16_1206297_C_A", "variantRsId": "rs367549572", "cohortPhenotypes": ["ALDOSTERONISM, PRIMARY, AND HYPERTENSION", "EIG", "FH IV", "Generalised epilepsy", "Hyperaldosteronism, familial, type IV", "Idiopathic generalized epilepsy"], "diseaseFromSource": "Hyperaldosteronism, familial, type IV", "diseaseFromSourceId": "C4310756", "diseaseFromSourceMappedId": "MONDO_0016525", "variantHgvsId": "NC_000016.10:g.1206297C>A"} -{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001002824", "releaseDate": "2020-02-16", "targetFromSourceId": "ENSG00000198691", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_94021404_C_G", "variantRsId": "rs61752439", "cohortPhenotypes": ["Fundus flavimaculatus", "Stargardt disease", "Stargardt's disease"], "diseaseFromSource": "Stargardt disease", "diseaseFromSourceId": "C0271093", "diseaseFromSourceMappedId": "MONDO_0019353", "variantHgvsId": "NC_000001.11:g.94021404C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001010349", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000073578", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_223538_C_T", "variantRsId": "rs1579379803", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000005.10:g.223538C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001027575", "releaseDate": "2020-03-26", "targetFromSourceId": "ENSG00000027697", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "6_137204354_TA_T", "variantRsId": "rs749956849", "cohortPhenotypes": ["Inherited Immunodeficiency Diseases"], "diseaseFromSource": "Inherited Immunodeficiency Diseases", "diseaseFromSourceId": "C5197805", "variantHgvsId": "NC_000006.12:g.137204355del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001036456", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000104419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_133258416_T_C", "variantRsId": "rs762263620", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 4", "Charcot-Marie-Tooth, Type 4"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4", "diseaseFromSourceId": "C4082197", "diseaseFromSourceMappedId": "MONDO_0018995", "variantHgvsId": "NC_000008.11:g.133258416T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001036970", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000183454", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_9938137_T_C", "variantRsId": "rs376979811", "cohortPhenotypes": ["APHASIA, ACQUIRED, WITH EPILEPSY", "Acquired aphasia with convulsive disorder", "Acquired epileptiform aphasia", "EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT", "Epilepsy with neurodevelopmental defects", "GRIN2A-Related Disorders", "Landau-Kleffner syndrome", "Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant"], "diseaseFromSource": "Landau-Kleffner syndrome", "diseaseFromSourceId": "C3806402", "diseaseFromSourceMappedId": "EFO_1001010", "variantHgvsId": "NC_000016.10:g.9938137T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001038401", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000143632", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "1_229432792_A_AT", "variantRsId": "rs1571893878", "cohortPhenotypes": ["Actin accumulation myopathy", "Nemaline myopathy 3", "Nemaline myopathy caused by mutation in the alpha-actin gene"], "diseaseFromSource": "Actin accumulation myopathy", "diseaseFromSourceId": "C3711389", "diseaseFromSourceMappedId": "Orphanet_607", "variantHgvsId": "NC_000001.11:g.229432793dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001039768", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000177084", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_132625692_C_G", "variantRsId": "rs1060500871", "cohortPhenotypes": ["COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24", "Colorectal cancer, susceptibility to, 12"], "diseaseFromSource": "Colorectal cancer, susceptibility to, 12", "diseaseFromSourceId": "C3554460", "diseaseFromSourceMappedId": "MONDO_0016362", "variantHgvsId": "NC_000012.12:g.132625692C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001042799", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "MONDO_0007424", "variantHgvsId": "NC_000005.10:g.141573998_141574000GAG[15]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001042799", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000005.10:g.141573998_141574000GAG[15]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001042799", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "diseaseFromSourceId": "C4225261", "diseaseFromSourceMappedId": "MONDO_0014714", "variantHgvsId": "NC_000005.10:g.141573998_141574000GAG[15]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001044664", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000169710", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_82091018_C_T", "variantRsId": "rs775845460", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000017.11:g.82091018C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001049118", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000174469", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_148229669_C_G", "variantRsId": "rs756994633", "cohortPhenotypes": ["Cortical dysplasia-focal epilepsy syndrome", "Pitt-Hopkins-like syndrome 1"], "diseaseFromSource": "Cortical dysplasia-focal epilepsy syndrome", "diseaseFromSourceId": "C2750246", "diseaseFromSourceMappedId": "Orphanet_163681", "variantHgvsId": "NC_000007.14:g.148229669C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001049118", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000174469", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_148229669_C_G", "variantRsId": "rs756994633", "cohortPhenotypes": ["Cortical dysplasia-focal epilepsy syndrome", "Pitt-Hopkins-like syndrome 1"], "diseaseFromSource": "Cortical dysplasia-focal epilepsy syndrome", "diseaseFromSourceId": "C2750246", "diseaseFromSourceMappedId": "Orphanet_221150", "variantHgvsId": "NC_000007.14:g.148229669C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001050174", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000106462", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_148846484_G_A", "variantRsId": "rs141583753", "cohortPhenotypes": ["Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly", "Weaver Smith syndrome", "Weaver syndrome"], "diseaseFromSource": "Weaver syndrome", "diseaseFromSourceId": "C0265210", "diseaseFromSourceMappedId": "MONDO_0010193", "variantHgvsId": "NC_000007.14:g.148846484G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001050474", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000168646", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_65538242_G_C", "variantRsId": "rs1598100863", "cohortPhenotypes": ["Oligodontia-cancer predisposition syndrome", "Oligodontia-colorectal cancer syndrome", "TOOTH AGENESIS-COLORECTAL CANCER SYNDROME"], "diseaseFromSource": "Oligodontia-cancer predisposition syndrome", "diseaseFromSourceId": "C1837750", "diseaseFromSourceMappedId": "MONDO_0012075", "variantHgvsId": "NC_000017.11:g.65538242G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001050474", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000168646", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_65538242_G_C", "variantRsId": "rs1598100863", "cohortPhenotypes": ["Oligodontia-cancer predisposition syndrome", "Oligodontia-colorectal cancer syndrome", "TOOTH AGENESIS-COLORECTAL CANCER SYNDROME"], "diseaseFromSource": "Oligodontia-cancer predisposition syndrome", "diseaseFromSourceId": "C1837750", "diseaseFromSourceMappedId": "Orphanet_300576", "variantHgvsId": "NC_000017.11:g.65538242G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001052705", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000167286", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_118340537_T_C", "variantRsId": "rs1346172061", "cohortPhenotypes": ["CD3-DELTA DEFICIENCY", "Immunodeficiency 19", "SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE", "SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE"], "diseaseFromSource": "Immunodeficiency 19", "diseaseFromSourceId": "C3810147", "diseaseFromSourceMappedId": "MONDO_0015823", "variantHgvsId": "NC_000011.10:g.118340537T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001055216", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_108251072_G_T", "variantRsId": "rs769788188", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108251072G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001056107", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000103150", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_83899641_C_T", "variantRsId": "rs774598772", "cohortPhenotypes": ["Deficiency of malonyl-CoA decarboxylase", "MCD deficiency", "Malonic acidemia", "Malonic aciduria"], "diseaseFromSource": "Deficiency of malonyl-CoA decarboxylase", "diseaseFromSourceId": "C0342793", "diseaseFromSourceMappedId": "MONDO_0009556", "variantHgvsId": "NC_000016.10:g.83899641C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001067011", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000162688", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_99851113_G_C", "variantRsId": "rs772905291", "cohortPhenotypes": ["Amylo-1,6-glucosidase deficiency", "Cori disease", "Forbes disease", "Glycogen debrancher deficiency", "Glycogen storage disease type 3", "Glycogen storage disease type III", "Limit dextrinosis"], "diseaseFromSource": "Glycogen storage disease type III", "diseaseFromSourceId": "C0017922", "diseaseFromSourceMappedId": "MONDO_0009291", "variantHgvsId": "NC_000001.11:g.99851113G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001074281", "releaseDate": "2020-04-18", "targetFromSourceId": "ENSG00000163914", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_129532306_C_A", "variantRsId": "rs765931092", "cohortPhenotypes": ["Retinal dystrophy"], "diseaseFromSource": "Retinal dystrophy", "diseaseFromSourceId": "C0854723", "diseaseFromSourceMappedId": "Orphanet_71862", "variantHgvsId": "NC_000003.12:g.129532306C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001107460", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000110756", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_18295112_A_G", "variantRsId": "rs150590027", "cohortPhenotypes": ["Hermansky-Pudlak syndrome 5"], "diseaseFromSource": "Hermansky-Pudlak syndrome 5", "diseaseFromSourceId": "C3888004", "diseaseFromSourceMappedId": "MONDO_0016502", "variantHgvsId": "NC_000011.10:g.18295112A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001148014", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000168827", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_158645740_C_A", "variantRsId": "rs62286651", "cohortPhenotypes": ["Combined oxidative phosphorylation deficiency 1", "HEPATOENCEPHALOPATHY, EARLY FATAL PROGRESSIVE", "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"], "diseaseFromSource": "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1", "diseaseFromSourceId": "C1836797", "diseaseFromSourceMappedId": "Orphanet_137681", "variantHgvsId": "NC_000003.12:g.158645740C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001165489", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000197969", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "9_77219947_T_C", "variantRsId": "rs377234046", "cohortPhenotypes": ["Acanthocytosis with neurologic disorder", "Chorea-acanthocytosis", "Choreaacanthocytosis", "Choreoacanthocytosis", "Levine-Critchley syndrome"], "diseaseFromSource": "Chorea-acanthocytosis", "diseaseFromSourceId": "C0393576", "diseaseFromSourceMappedId": "MONDO_0008695", "variantHgvsId": "NC_000009.12:g.77219947T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001165489", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000197969", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "9_77219947_T_C", "variantRsId": "rs377234046", "cohortPhenotypes": ["Acanthocytosis with neurologic disorder", "Chorea-acanthocytosis", "Choreaacanthocytosis", "Choreoacanthocytosis", "Levine-Critchley syndrome"], "diseaseFromSource": "Chorea-acanthocytosis", "diseaseFromSourceId": "C0393576", "diseaseFromSourceMappedId": "Orphanet_2388", "variantHgvsId": "NC_000009.12:g.77219947T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001169454", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000119121", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_74840057_C_T", "variantRsId": "rs150874152", "cohortPhenotypes": ["HYPOMAGNESEMIA, INTESTINAL, WITH SECONDARY HYPOCALCEMIA", "HYPOMAGNESEMIC TETANY", "Intestinal hypomagnesemia 1"], "diseaseFromSource": "Intestinal hypomagnesemia 1", "diseaseFromSourceId": "C1865974", "diseaseFromSourceMappedId": "MONDO_0011176", "variantHgvsId": "NC_000009.12:g.74840057C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001188935", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000171862", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "10_87960884_T_C", "variantRsId": "rs1270511778", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000010.11:g.87960884T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001190260", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000096696", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_7585543_G_A", "variantRsId": "rs376751288", "cohortPhenotypes": ["Cardiomyopathies", "Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy", "diseaseFromSourceId": "C0878544", "diseaseFromSourceMappedId": "EFO_0000318", "variantHgvsId": "NC_000006.12:g.7585543G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202070", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000196998", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_49075418_T_G", "variantRsId": "rs2065031040", "cohortPhenotypes": ["Beta-propeller protein-associated neurodegeneration", "Neurodegeneration with brain iron accumulation 5", "STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD"], "diseaseFromSource": "Neurodegeneration with brain iron accumulation 5", "diseaseFromSourceId": "C3550973", "diseaseFromSourceMappedId": "MONDO_0010476", "variantHgvsId": "NC_000023.11:g.49075418T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202908", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240722591_C_T", "variantRsId": "rs767349300", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 30", "diseaseFromSourceId": "C5235139", "diseaseFromSourceMappedId": "MONDO_0012476", "variantHgvsId": "NC_000002.12:g.240722591C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202908", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240722591_C_T", "variantRsId": "rs767349300", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 30", "diseaseFromSourceId": "C5235139", "diseaseFromSourceMappedId": "Orphanet_101010", "variantHgvsId": "NC_000002.12:g.240722591C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202908", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240722591_C_T", "variantRsId": "rs767349300", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Neuropathy, hereditary sensory, type 2C", "diseaseFromSourceId": "C3280168", "diseaseFromSourceMappedId": "Orphanet_970", "variantHgvsId": "NC_000002.12:g.240722591C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202908", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240722591_C_T", "variantRsId": "rs767349300", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Intellectual disability, autosomal dominant 9", "diseaseFromSourceId": "C5393830", "diseaseFromSourceMappedId": "MONDO_0013656", "variantHgvsId": "NC_000002.12:g.240722591C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202908", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240722591_C_T", "variantRsId": "rs767349300", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Intellectual disability, autosomal dominant 9", "diseaseFromSourceId": "C5393830", "diseaseFromSourceMappedId": "EFO_0003847", "variantHgvsId": "NC_000002.12:g.240722591C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001203411", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000129757", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_2884842_C_T", "variantRsId": "rs1848929968", "cohortPhenotypes": ["Beckwith-Wiedemann syndrome", "EMG Syndrome", "Exomphalos macroglossia gigantism syndrome"], "diseaseFromSource": "Beckwith-Wiedemann syndrome", "diseaseFromSourceId": "C0004903", "diseaseFromSourceMappedId": "MONDO_0007534", "variantHgvsId": "NC_000011.10:g.2884842C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001203905", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000139174", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_42460008_G_A", "variantRsId": "rs1937743406", "cohortPhenotypes": ["Epilepsy, progressive myoclonic, 1B", "PME", "PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia", "Progressive myoclonus epilepsy with ataxia"], "diseaseFromSource": "Epilepsy, progressive myoclonic, 1B", "diseaseFromSourceId": "C2676254", "diseaseFromSourceMappedId": "Orphanet_308", "variantHgvsId": "NC_000012.12:g.42460008G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001204459", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000197943", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_81908423_C_T", "variantRsId": "rs72824905", "cohortPhenotypes": ["ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED", "FAMILIAL ATYPICAL COLD URTICARIA", "Familial cold autoinflammatory syndrome 3"], "diseaseFromSource": "Familial cold autoinflammatory syndrome 3", "diseaseFromSourceId": "C3280914", "diseaseFromSourceMappedId": "Orphanet_247868", "variantHgvsId": "NC_000016.10:g.81908423C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001206617", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000136531", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165313705_T_C", "variantRsId": "rs1697569337", "cohortPhenotypes": ["CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3", "Developmental and epileptic encephalopathy, 11", "Early infantile epileptic encephalopathy 11", "Familial neonatal seizures", "Seizures, benign familial infantile, 3"], "diseaseFromSource": "Seizures, benign familial infantile, 3", "diseaseFromSourceId": "C1843140", "diseaseFromSourceMappedId": "Orphanet_140927", "variantHgvsId": "NC_000002.12:g.165313705T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001206617", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000136531", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165313705_T_C", "variantRsId": "rs1697569337", "cohortPhenotypes": ["CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3", "Developmental and epileptic encephalopathy, 11", "Early infantile epileptic encephalopathy 11", "Familial neonatal seizures", "Seizures, benign familial infantile, 3"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 11", "diseaseFromSourceId": "C3150987", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000002.12:g.165313705T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001208658", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000169710", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_82087051_C_T", "variantRsId": "rs761637918", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000017.11:g.82087051C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001212575", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000136531", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165354483_G_A", "variantRsId": "rs1553584033", "cohortPhenotypes": ["CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3", "Developmental and epileptic encephalopathy, 11", "Early infantile epileptic encephalopathy 11", "Familial neonatal seizures", "Seizures, benign familial infantile, 3"], "diseaseFromSource": "Seizures, benign familial infantile, 3", "diseaseFromSourceId": "C1843140", "diseaseFromSourceMappedId": "Orphanet_140927", "variantHgvsId": "NC_000002.12:g.165354483G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001212575", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000136531", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165354483_G_A", "variantRsId": "rs1553584033", "cohortPhenotypes": ["CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3", "Developmental and epileptic encephalopathy, 11", "Early infantile epileptic encephalopathy 11", "Familial neonatal 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["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001213589", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000181523", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_80208193_CAGG_C", "variantRsId": "rs937454631", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2", "Psoriasis susceptibility 2"], "diseaseFromSource": "Pityriasis rubra pilaris", "diseaseFromSourceId": "C0032027", "diseaseFromSourceMappedId": "MONDO_0008251", "variantHgvsId": "NC_000017.11:g.80208194AGG[2]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001213589", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000141527", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "17_80208193_CAGG_C", "variantRsId": "rs937454631", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2", "Psoriasis susceptibility 2"], "diseaseFromSource": "Psoriasis 2", "diseaseFromSourceId": "C1864497", "diseaseFromSourceMappedId": "EFO_0000676", "variantHgvsId": "NC_000017.11:g.80208194AGG[2]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001213589", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000181523", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_80208193_CAGG_C", "variantRsId": "rs937454631", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2", "Psoriasis susceptibility 2"], "diseaseFromSource": "Psoriasis 2", "diseaseFromSourceId": "C1864497", "diseaseFromSourceMappedId": "EFO_0000676", "variantHgvsId": "NC_000017.11:g.80208194AGG[2]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001214622", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000177666", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_823728_G_GC", "variantRsId": "rs1343828094", "cohortPhenotypes": ["Neutral lipid storage disease with myopathy", "Neutral lipid storage disease without ichthyosis", "Neutral lipid storage myopathy"], "diseaseFromSource": "Neutral lipid storage myopathy", "diseaseFromSourceId": "C1853136", "diseaseFromSourceMappedId": "Orphanet_98908", "variantHgvsId": "NC_000011.10:g.823734dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001214622", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000177666", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_823728_G_GC", "variantRsId": "rs1343828094", "cohortPhenotypes": ["Neutral lipid storage disease with myopathy", "Neutral lipid storage disease without ichthyosis", "Neutral lipid storage myopathy"], "diseaseFromSource": "Neutral lipid storage myopathy", "diseaseFromSourceId": "C1853136", "diseaseFromSourceMappedId": "MONDO_0012545", "variantHgvsId": "NC_000011.10:g.823734dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001219698", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000134086", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_10142092_G_A", "variantRsId": "rs794726890", "cohortPhenotypes": ["Chuvash polycythemia", "Erythrocytosis, familial, 2", "POLYCYTHEMIA, VHL-DEPENDENT", "VHL syndrome", "Von Hippel-Lindau", "Von Hippel-Lindau syndrome"], "diseaseFromSource": "Chuvash polycythemia", "diseaseFromSourceId": "C1837915", "diseaseFromSourceMappedId": "MONDO_0009892", "variantHgvsId": "NC_000003.12:g.10142092G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001219698", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000134086", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_10142092_G_A", "variantRsId": "rs794726890", "cohortPhenotypes": ["Chuvash polycythemia", "Erythrocytosis, familial, 2", "POLYCYTHEMIA, VHL-DEPENDENT", "VHL syndrome", "Von Hippel-Lindau", "Von Hippel-Lindau syndrome"], "diseaseFromSource": "Chuvash polycythemia", "diseaseFromSourceId": "C1837915", "diseaseFromSourceMappedId": "Orphanet_90042", "variantHgvsId": "NC_000003.12:g.10142092G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001219698", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000134086", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_10142092_G_A", "variantRsId": "rs794726890", "cohortPhenotypes": ["Chuvash polycythemia", "Erythrocytosis, familial, 2", "POLYCYTHEMIA, VHL-DEPENDENT", "VHL syndrome", "Von Hippel-Lindau", "Von Hippel-Lindau syndrome"], "diseaseFromSource": "Von Hippel-Lindau syndrome", "diseaseFromSourceId": "C0019562", "diseaseFromSourceMappedId": "MONDO_0008667", "variantHgvsId": "NC_000003.12:g.10142092G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001220807", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000022267", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_136206494_A_G", "variantRsId": "rs1187549360", "cohortPhenotypes": ["X-linked myopathy with postural muscle atrophy"], "diseaseFromSource": "X-linked myopathy with postural muscle atrophy", "diseaseFromSourceId": "C2678055", "diseaseFromSourceMappedId": "MONDO_0010401", "variantHgvsId": "NC_000023.11:g.136206494A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001226988", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000110274", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_117363444_A_G", "variantRsId": "rs777527578", "cohortPhenotypes": ["Nephronophthisis 15"], "diseaseFromSource": "Nephronophthisis 15", "diseaseFromSourceId": "C3541853", "diseaseFromSourceMappedId": "MONDO_0017842", "variantHgvsId": "NC_000011.10:g.117363444A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232017", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_2087931_G_T", "variantRsId": "rs200700923", "cohortPhenotypes": ["Tuberous sclerosis 2"], "diseaseFromSource": "Tuberous sclerosis 2", "diseaseFromSourceId": "C1860707", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2087931G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232020", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000171988", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_63189337_T_C", "variantRsId": "rs747616915", "cohortPhenotypes": ["Early myoclonic encephalopathy"], "diseaseFromSource": "Early myoclonic encephalopathy", "diseaseFromSourceId": "C0270855", "diseaseFromSourceMappedId": "MONDO_0016022", "variantHgvsId": "NC_000010.11:g.63189337T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232020", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000171988", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_63189337_T_C", "variantRsId": "rs747616915", "cohortPhenotypes": ["Early myoclonic encephalopathy"], "diseaseFromSource": "Early myoclonic encephalopathy", "diseaseFromSourceId": "C0270855", "diseaseFromSourceMappedId": "EFO_1001900", "variantHgvsId": "NC_000010.11:g.63189337T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001233569", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000198003", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_11423877_G_C", "variantRsId": "rs1361894803", "cohortPhenotypes": ["CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS", "Primary ciliary dyskinesia 30"], "diseaseFromSource": "Primary ciliary dyskinesia 30", "diseaseFromSourceId": "C4015016", "variantHgvsId": "NC_000019.10:g.11423877G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001236792", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000106617", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_151781271_C_T", "variantRsId": "rs369471907", "cohortPhenotypes": ["GLYCOGEN STORAGE DISEASE OF HEART", "Lethal congenital glycogen storage disease of heart", "PHOSPHORYLASE KINASE DEFICIENCY OF HEART"], "diseaseFromSource": "Lethal congenital glycogen storage disease of heart", "diseaseFromSourceId": "C1849813", "diseaseFromSourceMappedId": "MONDO_0009867", "variantHgvsId": "NC_000007.14:g.151781271C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001242233", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000005339", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_3757313_C_T", "variantRsId": "rs2052609627", "cohortPhenotypes": ["Broad thumb-hallux syndrome", "Rubinstein-Taybi syndrome"], "diseaseFromSource": "Rubinstein-Taybi syndrome", "diseaseFromSourceId": "C0035934", "diseaseFromSourceMappedId": "MONDO_0019188", "variantHgvsId": "NC_000016.10:g.3757313C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001249674", "releaseDate": "2020-07-25", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_1592176_C_T", "variantRsId": "rs201188361", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "Retinitis pigmentosa 80", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "Orphanet_140969", "variantHgvsId": "NC_000016.10:g.1592176C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001249674", "releaseDate": "2020-07-25", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_1592176_C_T", "variantRsId": "rs201188361", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "Retinitis pigmentosa 80", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "MONDO_0009964", "variantHgvsId": "NC_000016.10:g.1592176C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001249674", "releaseDate": "2020-07-25", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_1592176_C_T", "variantRsId": "rs201188361", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "Retinitis pigmentosa 80", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Retinitis pigmentosa 80", "diseaseFromSourceId": "C4540439", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000016.10:g.1592176C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001257226", "releaseDate": "2020-09-27", "targetFromSourceId": "ENSG00000101306", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_31820482_G_A", "variantRsId": "rs1278523169", "cohortPhenotypes": ["Familial hypertrophic cardiomyopathy 1", "Hypertrophic cardiomyopathy 1", "MYH7-Related Familial Hypertrophic Cardiomyopathy"], "diseaseFromSource": "Hypertrophic cardiomyopathy 1", "diseaseFromSourceId": "C3495498", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000020.11:g.31820482G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001266493", "releaseDate": "2020-11-21", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "14_23420200_G_GCCTCCAGCTCCT", "variantRsId": "rs1064792935", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000014.9:g.23420202CTCCAGCTCCTC[3]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001273385", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000150275", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_53866837_G_T", "variantRsId": "rs753725514", "cohortPhenotypes": ["USHER SYNDROME, TYPE IF", "Usher syndrome type 1F"], "diseaseFromSource": "Usher syndrome type 1F", "diseaseFromSourceId": "C1865885", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000010.11:g.53866837G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001279515", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000070061", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "9_108929931_A_G", "variantRsId": "rs768610434", "cohortPhenotypes": ["FD", "Familial dysautonomia", "HSAN 3", "HSAN III", "HSN 3", "Hereditary sensory and autonomic neuropathy 3", "Hereditary sensory neuropathy type 3", "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III", "Riley Day syndrome"], "diseaseFromSource": "Familial dysautonomia", "diseaseFromSourceId": "C0013364", "diseaseFromSourceMappedId": "Orphanet_1764", "variantHgvsId": "NC_000009.12:g.108929931A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001294696", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000112319", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_133468630_A_G", "variantRsId": "rs1795052577", "cohortPhenotypes": ["CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT", "Dilated cardiomyopathy 1J"], "diseaseFromSource": "Dilated cardiomyopathy 1J", "diseaseFromSourceId": "C1854368", "diseaseFromSourceMappedId": "Orphanet_217622", "variantHgvsId": "NC_000006.12:g.133468630A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001298532", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000113522", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_132591382_A_G", "variantRsId": "rs1322845292", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000005.10:g.132591382A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001300402", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000104450", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_100213182_A_C", "variantRsId": "rs1246342969", "cohortPhenotypes": ["CILIARY DYSKINESIA, PRIMARY, 28, WITH OR WITHOUT SITUS INVERSUS", "Primary ciliary dyskinesia 28"], "diseaseFromSource": "Primary ciliary dyskinesia 28", "diseaseFromSourceId": "C3809706", "variantHgvsId": "NC_000008.11:g.100213182A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001300925", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000253729", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_47837340_A_C", "variantRsId": "rs2088049317", "cohortPhenotypes": ["IMMUNODEFICIENCY 26 WITH NEUROLOGIC ABNORMALITIES", "Immunodeficiency 26 with or without neurologic abnormalities", "Severe combined immunodeficiency due to DNA-PKcs deficiency"], "diseaseFromSource": "Severe combined immunodeficiency due to DNA-PKcs deficiency", "diseaseFromSourceId": "C4014833", "diseaseFromSourceMappedId": "Orphanet_317425", "variantHgvsId": "NC_000008.11:g.47837340A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001300925", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000253729", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_47837340_A_C", "variantRsId": "rs2088049317", "cohortPhenotypes": ["IMMUNODEFICIENCY 26 WITH NEUROLOGIC ABNORMALITIES", "Immunodeficiency 26 with or without neurologic abnormalities", "Severe combined immunodeficiency due to DNA-PKcs deficiency"], "diseaseFromSource": "Severe combined immunodeficiency due to DNA-PKcs deficiency", "diseaseFromSourceId": "C4014833", "diseaseFromSourceMappedId": "MONDO_0014423", "variantHgvsId": "NC_000008.11:g.47837340A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001302345", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000273079", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_13562994_G_A", "variantRsId": "rs201463390", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 27", "Epileptic encephalopathy, early infantile, 27", "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES", "Intellectual disability, autosomal dominant 6", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES"], "diseaseFromSource": "Intellectual disability, autosomal dominant 6", "diseaseFromSourceId": "C3151411", "variantHgvsId": "NC_000012.12:g.13562994G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001302345", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000273079", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_13562994_G_A", "variantRsId": "rs201463390", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 27", "Epileptic encephalopathy, early infantile, 27", "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES", "Intellectual disability, autosomal dominant 6", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 27", "diseaseFromSourceId": "C4015316", "diseaseFromSourceMappedId": "Orphanet_3451", "variantHgvsId": "NC_000012.12:g.13562994G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001309755", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000185339", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_30623057_G_C", "variantRsId": "rs4820889", "cohortPhenotypes": ["TC II DEFICIENCY", "TCN2 DEFICIENCY", "Transcobalamin II deficiency", "Transcolabamin II deficiency"], "diseaseFromSource": "Transcobalamin II deficiency", "diseaseFromSourceId": "C0342701", "diseaseFromSourceMappedId": "Orphanet_859", "variantHgvsId": "NC_000022.11:g.30623057G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001316006", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000177663", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_17108508_G_C", "variantRsId": "rs192300437", "cohortPhenotypes": ["CANDIDIASIS, FAMILIAL, 5", "Immunodeficiency 51"], "diseaseFromSource": "Immunodeficiency 51", "diseaseFromSourceId": "C4310803", "diseaseFromSourceMappedId": "MONDO_0013500", "variantHgvsId": "NC_000022.11:g.17108508G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001318634", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000064419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_129005130_A_T", "variantRsId": "rs148885407", "cohortPhenotypes": ["Autosomal dominant limb-girdle muscular dystrophy type 1F", "Limb-girdle muscular dystrophy, type 1F", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2"], "diseaseFromSource": "Autosomal dominant limb-girdle muscular dystrophy type 1F", "diseaseFromSourceId": "C1842062", "diseaseFromSourceMappedId": "MONDO_0012034", "variantHgvsId": "NC_000007.14:g.129005130A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001318634", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000064419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_129005130_A_T", "variantRsId": "rs148885407", "cohortPhenotypes": ["Autosomal dominant limb-girdle muscular dystrophy type 1F", "Limb-girdle muscular dystrophy, type 1F", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2"], "diseaseFromSource": "Autosomal dominant limb-girdle muscular dystrophy type 1F", "diseaseFromSourceId": "C1842062", "diseaseFromSourceMappedId": "Orphanet_55595", "variantHgvsId": "NC_000007.14:g.129005130A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001318909", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000081189", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_88761241_T_C", "variantRsId": "rs1777713411", "cohortPhenotypes": ["Intellectual disability, autosomal dominant 20", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 20", "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE"], "diseaseFromSource": "Intellectual disability, autosomal dominant 20", "diseaseFromSourceId": "C3150700", "variantHgvsId": "NC_000005.10:g.88761241T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001320507", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_108229236_G_A", "variantRsId": "rs1412024666", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108229236G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001325854", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000062822", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_50403111_C_G", "variantRsId": "rs759213871", "cohortPhenotypes": ["COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q", "Colorectal cancer 10", "Colorectal cancer, susceptibility to, 10"], "diseaseFromSource": "Colorectal cancer, susceptibility to, 10", "diseaseFromSourceId": "C2675481", "diseaseFromSourceMappedId": "EFO_0005842", "variantHgvsId": "NC_000019.10:g.50403111C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001343159", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000171988", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_63186253_T_C", "variantRsId": "rs1040108326", "cohortPhenotypes": ["Early myoclonic encephalopathy"], "diseaseFromSource": "Early myoclonic encephalopathy", "diseaseFromSourceId": "C0270855", "diseaseFromSourceMappedId": "MONDO_0016022", "variantHgvsId": "NC_000010.11:g.63186253T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001343159", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000171988", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_63186253_T_C", "variantRsId": "rs1040108326", "cohortPhenotypes": ["Early myoclonic encephalopathy"], "diseaseFromSource": "Early myoclonic encephalopathy", "diseaseFromSourceId": "C0270855", "diseaseFromSourceMappedId": "EFO_1001900", "variantHgvsId": "NC_000010.11:g.63186253T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001345082", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000101204", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63350627_C_T", "variantRsId": "rs150082508", "cohortPhenotypes": ["Autosomal dominant nocturnal frontal lobe epilepsy"], "diseaseFromSource": "Autosomal dominant nocturnal frontal lobe epilepsy", "diseaseFromSourceId": "C3696898", "diseaseFromSourceMappedId": "MONDO_0020300", "variantHgvsId": "NC_000020.11:g.63350627C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001350975", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000141646", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_51054866_A_C", "variantRsId": "rs1203141844", "cohortPhenotypes": ["Juvenile polyposis syndrome", "Polyposis familial of entire gastrointestinal tract", "Polyposis juvenile intestinal"], "diseaseFromSource": "Juvenile polyposis syndrome", "diseaseFromSourceId": "C0345893", "diseaseFromSourceMappedId": "MONDO_0017380", "variantHgvsId": "NC_000018.10:g.51054866A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001351367", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_2085246_G_T", "variantRsId": "rs769834772", "cohortPhenotypes": ["Tuberous sclerosis 2"], "diseaseFromSource": "Tuberous sclerosis 2", "diseaseFromSourceId": "C1860707", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2085246G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000803704", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000106991", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "9_127825232_C_T", "variantRsId": "rs1588581785", "cohortPhenotypes": ["Hereditary hemorrhagic telangiectasia", "ORW disease", "Osler Weber Rendu syndrome", "Osler hemorrhagic telangiectasia syndrome", "Osler-Rendu-Weber disease"], "diseaseFromSource": "Hereditary hemorrhagic telangiectasia", "diseaseFromSourceId": "C0039445", "diseaseFromSourceMappedId": "MONDO_0019180", "variantHgvsId": "NC_000009.12:g.127825232C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000803704", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000106991", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "9_127825232_C_T", "variantRsId": "rs1588581785", "cohortPhenotypes": ["Hereditary hemorrhagic telangiectasia", "ORW disease", "Osler Weber Rendu syndrome", "Osler hemorrhagic telangiectasia syndrome", "Osler-Rendu-Weber disease"], "diseaseFromSource": "Hereditary hemorrhagic telangiectasia", "diseaseFromSourceId": "C0039445", "diseaseFromSourceMappedId": "Orphanet_774", "variantHgvsId": "NC_000009.12:g.127825232C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000806813", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000197299", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_90749723_A_G", "variantRsId": "rs749633106", "cohortPhenotypes": ["Bloom syndrome", "Bloom-Torre-Machacek syndrome", "Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability"], "diseaseFromSource": "Bloom syndrome", "diseaseFromSourceId": "C0005859", "diseaseFromSourceMappedId": "MONDO_0008876", "variantHgvsId": "NC_000015.10:g.90749723A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000852500", "releaseDate": "2019-10-12", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178566906_C_T", "variantRsId": "rs72648206", "cohortPhenotypes": ["Cardiomyopathies", "Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy", "diseaseFromSourceId": "C0878544", "diseaseFromSourceMappedId": "EFO_0000318", "variantHgvsId": "NC_000002.12:g.178566906C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000853007", "releaseDate": "2019-10-12", "targetFromSourceId": "ENSG00000112769", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_112191680_G_A", "variantRsId": "rs149615862", "cohortPhenotypes": ["Cardiomyopathies", "Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy", "diseaseFromSourceId": "C0878544", "diseaseFromSourceMappedId": "EFO_0000318", "variantHgvsId": "NC_000006.12:g.112191680G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000865874", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000173575", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_93014810_C_T", "variantRsId": "rs144395162", "cohortPhenotypes": ["Developmental and epileptic encephalopathy 94", "Epileptic encephalopathy, childhood-onset"], "diseaseFromSource": "Developmental and epileptic encephalopathy 94", "diseaseFromSourceId": "C3809278", "diseaseFromSourceMappedId": "MONDO_0016025", "variantHgvsId": "NC_000015.10:g.93014810C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000865874", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000173575", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_93014810_C_T", "variantRsId": "rs144395162", "cohortPhenotypes": ["Developmental and epileptic encephalopathy 94", "Epileptic encephalopathy, childhood-onset"], "diseaseFromSource": "Developmental and epileptic encephalopathy 94", "diseaseFromSourceId": "C3809278", "diseaseFromSourceMappedId": "MONDO_0016532", "variantHgvsId": "NC_000015.10:g.93014810C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000865874", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000173575", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_93014810_C_T", "variantRsId": "rs144395162", "cohortPhenotypes": ["Developmental and epileptic encephalopathy 94", "Epileptic encephalopathy, childhood-onset"], "diseaseFromSource": "Developmental and epileptic encephalopathy 94", "diseaseFromSourceId": "C3809278", "diseaseFromSourceMappedId": "Orphanet_98259", "variantHgvsId": "NC_000015.10:g.93014810C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000877114", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240767003_G_A", "variantRsId": "rs754916421", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 30", "diseaseFromSourceId": "C5235139", "diseaseFromSourceMappedId": "MONDO_0012476", "variantHgvsId": "NC_000002.12:g.240767003G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000877114", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240767003_G_A", "variantRsId": "rs754916421", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 30", "diseaseFromSourceId": "C5235139", "diseaseFromSourceMappedId": "Orphanet_101010", "variantHgvsId": "NC_000002.12:g.240767003G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000877114", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240767003_G_A", "variantRsId": "rs754916421", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Neuropathy, hereditary sensory, type 2C", "diseaseFromSourceId": "C3280168", "diseaseFromSourceMappedId": "Orphanet_970", "variantHgvsId": "NC_000002.12:g.240767003G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": 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"confidence": "criteria provided, conflicting classifications", "studyId": "RCV000902966", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000109101", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_28537375_C_T", "variantRsId": "rs368962978", "cohortPhenotypes": ["Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency", "Pignata Guarino syndrome", "T-cell immunodeficiency, congenital alopecia, and nail dystrophy"], "diseaseFromSource": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy", "diseaseFromSourceId": "C1866426", "diseaseFromSourceMappedId": "Orphanet_169095", "variantHgvsId": "NC_000017.11:g.28537375C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000921425", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000171862", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_87925528_G_A", "variantRsId": "rs972166984", "cohortPhenotypes": ["PTEN Hamartomatous Tumour Syndrome", "PTEN hamartoma tumor syndrome", "PTEN-related disorders"], "diseaseFromSource": "PTEN hamartoma tumor syndrome", "diseaseFromSourceId": "C1959582", "diseaseFromSourceMappedId": "MONDO_0017623", "variantHgvsId": "NC_000010.11:g.87925528G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000968533", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000198734", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_169549873_T_C", "variantRsId": "rs140627208", "cohortPhenotypes": ["Factor V deficiency", "Reduced coagulation factor V activity"], "diseaseFromSource": "Factor V deficiency", "diseaseFromSourceId": "C4317320", "diseaseFromSourceMappedId": "MONDO_0009210", "variantHgvsId": "NC_000001.11:g.169549873T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV000985037", "releaseDate": "2020-01-04", "targetFromSourceId": "ENSG00000053918", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_2570736_A_C", "variantRsId": "rs1589956747", "cohortPhenotypes": ["Autosomal dominant KCNQ1-related disease"], "diseaseFromSource": "Autosomal dominant KCNQ1-related disease", "variantHgvsId": "NC_000011.10:g.2570736A>C"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000990614", "releaseDate": "2020-01-11", "targetFromSourceId": "ENSG00000198947", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "X_31679530_G_A", "variantRsId": "rs1603445332", "cohortPhenotypes": ["Duchenne muscular dystrophy", "Muscular dystrophy, pseudohypertrophic progressive, Duchenne type"], "diseaseFromSource": "Duchenne muscular dystrophy", "diseaseFromSourceId": "C0013264", "diseaseFromSourceMappedId": "MONDO_0010679", "variantHgvsId": "NC_000023.11:g.31679530G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001004239", "releaseDate": "2020-03-01", "targetFromSourceId": "ENSG00000001626", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "7_117536629_C_G", "variantRsId": "rs193922532", "cohortPhenotypes": ["Congenital bilateral aplasia of vas deferens from CFTR mutation", "Cystic fibrosis", "Mucoviscidosis"], "diseaseFromSource": "Cystic fibrosis", "diseaseFromSourceId": "C0010674", "diseaseFromSourceMappedId": "MONDO_0009061", "variantHgvsId": "NC_000007.14:g.117536629C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001004239", "releaseDate": "2020-03-01", "targetFromSourceId": "ENSG00000001626", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "7_117536629_C_G", "variantRsId": "rs193922532", "cohortPhenotypes": ["Congenital bilateral aplasia of vas deferens from CFTR mutation", "Cystic fibrosis", "Mucoviscidosis"], "diseaseFromSource": "Congenital bilateral aplasia of vas deferens from CFTR mutation", "diseaseFromSourceId": "C0403814", "diseaseFromSourceMappedId": "MONDO_0010178", "variantHgvsId": "NC_000007.14:g.117536629C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001010349", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000073578", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_223538_C_T", "variantRsId": "rs1579379803", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000005.10:g.223538C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001011268", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_112821966_G_C", "variantRsId": "rs1561546239", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000005.10:g.112821966G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001011480", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000185920", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_95477637_C_T", "variantRsId": "rs1588600742", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary 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"diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.61780280T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "literature": ["6344088"], "studyId": "RCV000011137", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000160211", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_154532625_C_T", "variantRsId": "rs137852336", "cohortPhenotypes": ["Anemia, nonspherocytic hemolytic, due to G6PD deficiency", "Class I glucose-6-phosphate dehydrogenase deficiency", "Favism, susceptibility to", "Hemolytic anemia due to G6PD deficiency"], "diseaseFromSource": "Anemia, nonspherocytic hemolytic, due to G6PD deficiency", "diseaseFromSourceId": "C2720289", "diseaseFromSourceMappedId": "EFO_1000641", "variantHgvsId": "NC_000023.11:g.154532625C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV000077651", "releaseDate": "2013-12-23", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "13_32316408_C_T", "variantRsId": "rs398122721", "cohortPhenotypes": ["Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32316408C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV000077651", "releaseDate": "2013-12-23", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "13_32316408_C_T", "variantRsId": "rs398122721", "cohortPhenotypes": ["Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "MONDO_0012933", "variantHgvsId": "NC_000013.11:g.32316408C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000318832", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000182578", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_150053664_C_G", "variantRsId": "rs1058920", "cohortPhenotypes": ["Hereditary diffuse leukoencephalopathy with spheroids", "LEUKOENCEPHALOPATHY, ADULT-ONSET, WITH AXONAL SPHEROIDS AND PIGMENTED GLIA"], "diseaseFromSource": "Hereditary diffuse leukoencephalopathy with spheroids", "diseaseFromSourceId": "C3711381", "diseaseFromSourceMappedId": "Orphanet_313808", "variantHgvsId": "NC_000005.10:g.150053664C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000414360", "releaseDate": "2017-01-09", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.43081201_43091610del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000414360", "releaseDate": "2017-01-09", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "MONDO_0011450", "variantHgvsId": "NC_000017.11:g.43081201_43091610del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000669631", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000116218", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_179557134_A_T", "variantRsId": "rs779736229", "cohortPhenotypes": ["Hereditary nephrotic syndrome", "Nephrotic syndrome, steroid-resistant, autosomal recessive", "Nephrotic syndrome, type 2"], "diseaseFromSource": "Nephrotic syndrome, type 2", "diseaseFromSourceId": "C1868672", "diseaseFromSourceMappedId": "MONDO_0019006", "variantHgvsId": "NC_000001.11:g.179557134A>T"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no classification provided", "studyId": "RCV001072564", "releaseDate": "2020-04-18", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_43057083_G_A", "variantRsId": "rs80357462", "cohortPhenotypes": ["Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.43057083G>A"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no classification provided", "studyId": "RCV001072564", "releaseDate": "2020-04-18", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_43057083_G_A", "variantRsId": "rs80357462", "cohortPhenotypes": ["Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "MONDO_0011450", "variantHgvsId": "NC_000017.11:g.43057083G>A"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no classification provided", "studyId": "RCV001077539", "releaseDate": 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"Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "MONDO_0011450", "variantHgvsId": "NC_000017.11:g.43063956A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001100115", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000142798", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_21841203_G_A", "variantRsId": "rs533824462", "cohortPhenotypes": ["Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities", "Schwartz-Jampel syndrome"], "diseaseFromSource": "Schwartz-Jampel syndrome", "diseaseFromSourceId": "C0036391", "diseaseFromSourceMappedId": "MONDO_0009717", "variantHgvsId": "NC_000001.11:g.21841203G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001155615", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000182578", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_150068323_G_A", "variantRsId": "rs1757872206", "cohortPhenotypes": ["Hereditary diffuse leukoencephalopathy with spheroids", "LEUKOENCEPHALOPATHY, ADULT-ONSET, WITH AXONAL SPHEROIDS AND PIGMENTED GLIA"], "diseaseFromSource": "Hereditary diffuse leukoencephalopathy with spheroids", "diseaseFromSourceId": "C3711381", "diseaseFromSourceMappedId": "Orphanet_313808", "variantHgvsId": "NC_000005.10:g.150068323G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001384081", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000101384", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "20_10641678_G_A", "variantRsId": "rs1555827789", "cohortPhenotypes": ["Alagille syndrome 1", "Alagille syndrome due to a JAG1 point mutation", "HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC", "JAG1-Related Alagille Syndrome"], "diseaseFromSource": "Alagille syndrome due to a JAG1 point mutation", "diseaseFromSourceId": "C1956125", "diseaseFromSourceMappedId": "Orphanet_52", "variantHgvsId": "NC_000020.11:g.10641678G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001384081", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000101384", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "20_10641678_G_A", "variantRsId": "rs1555827789", "cohortPhenotypes": ["Alagille syndrome 1", "Alagille syndrome due to a JAG1 point mutation", "HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC", "JAG1-Related Alagille Syndrome"], "diseaseFromSource": "Alagille syndrome due to a JAG1 point mutation", "diseaseFromSourceId": "C1956125", "diseaseFromSourceMappedId": "MONDO_0016862", "variantHgvsId": "NC_000020.11:g.10641678G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001960782", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000196218", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_38485943_C_T", "variantRsId": "rs1335007839", "cohortPhenotypes": ["RYR1-Related Disorders"], "diseaseFromSource": "RYR1-Related Disorders", "diseaseFromSourceId": "CN239331", "diseaseFromSourceMappedId": "EFO_0009143", "variantHgvsId": "NC_000019.10:g.38485943C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160997", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000179142", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "8_142917684_G_A", "variantRsId": "rs747248100", "cohortPhenotypes": ["ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME", "ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE", "FH I", "GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM", "Glucocorticoid-remediable aldosteronism", "Hyperaldosteronism, familial, type I"], "diseaseFromSource": "Glucocorticoid-remediable aldosteronism", "diseaseFromSourceId": "C3838731", "diseaseFromSourceMappedId": "MONDO_0007080", "variantHgvsId": "NC_000008.11:g.142917684G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160997", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000179142", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "8_142917684_G_A", "variantRsId": "rs747248100", "cohortPhenotypes": ["ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME", "ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE", "FH I", "GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM", "Glucocorticoid-remediable aldosteronism", "Hyperaldosteronism, familial, type I"], "diseaseFromSource": "Glucocorticoid-remediable aldosteronism", "diseaseFromSourceId": "C3838731", "diseaseFromSourceMappedId": "Orphanet_403", "variantHgvsId": "NC_000008.11:g.142917684G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001352157", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000138347", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_68210415_C_T", "variantRsId": "rs781048271", "cohortPhenotypes": ["Dilated cardiomyopathy 1KK"], "diseaseFromSource": "Dilated cardiomyopathy 1KK", "diseaseFromSourceId": "C3714995", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000010.11:g.68210415C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001361662", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000196296", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_28900872_A_C", "cohortPhenotypes": ["BRODY DISEASE", "Brody myopathy"], "diseaseFromSource": "Brody myopathy", "diseaseFromSourceId": "C1832918", "diseaseFromSourceMappedId": "MONDO_0010977", "variantHgvsId": "NC_000016.10:g.28900872A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001363924", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000141527", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_80195553_T_G", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2", "Psoriasis susceptibility 2"], "diseaseFromSource": "Pityriasis rubra pilaris", "diseaseFromSourceId": "C0032027", "diseaseFromSourceMappedId": "MONDO_0008251", "variantHgvsId": "NC_000017.11:g.80195553T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001363924", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000141527", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_80195553_T_G", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2", "Psoriasis susceptibility 2"], "diseaseFromSource": "Psoriasis 2", "diseaseFromSourceId": "C1864497", "diseaseFromSourceMappedId": "EFO_0000676", "variantHgvsId": "NC_000017.11:g.80195553T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001373298", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000155980", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_57578284_A_G", "cohortPhenotypes": ["Spastic paraplegia"], "diseaseFromSource": "Spastic paraplegia", "diseaseFromSourceId": "C0037772", "diseaseFromSourceMappedId": "HP_0001258", "variantHgvsId": "NC_000012.12:g.57578284A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377998", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000036828", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_122275959_G_C", "cohortPhenotypes": ["Autosomal dominant hypocalcemia 1", "Familial benign hypercalcemia", "Familial hypocalciuric hypercalcemia", "HYPOCALCEMIA, FAMILIAL"], "diseaseFromSource": "Autosomal dominant hypocalcemia 1", "diseaseFromSourceId": "C0342345", "variantHgvsId": "NC_000003.12:g.122275959G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377998", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000036828", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_122275959_G_C", "cohortPhenotypes": ["Autosomal dominant hypocalcemia 1", "Familial benign hypercalcemia", "Familial hypocalciuric hypercalcemia", "HYPOCALCEMIA, FAMILIAL"], "diseaseFromSource": "Familial hypocalciuric hypercalcemia", "diseaseFromSourceId": "C1809471", "diseaseFromSourceMappedId": "MONDO_0018458", "variantHgvsId": "NC_000003.12:g.122275959G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001378744", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000277027", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "9_35658026_C_CAGCTTCACAGAGTAGCTTCACAGAGT", "cohortPhenotypes": ["Anauxetic dysplasia", "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ANAUXETIC TYPE", "SPONDYLOMETAEPIPHYSEAL DYSPLASIA, ANAUXETIC TYPE"], "diseaseFromSource": "Anauxetic dysplasia", "diseaseFromSourceId": "C1846796", "diseaseFromSourceMappedId": "MONDO_0011773", "variantHgvsId": "NC_000009.12:g.35658029CTTCACAGAGTAG[3]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001386995", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000160789", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "1_156136375_TG_T", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 2", "Charcot-Marie-Tooth, Type 2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2", "diseaseFromSourceId": "C0270914", "diseaseFromSourceMappedId": "MONDO_0018993", "variantHgvsId": "NC_000001.11:g.156136377del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001397542", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000171298", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_80118365_C_A", "cohortPhenotypes": ["ACID ALPHA-GLUCOSIDASE DEFICIENCY", "Acid maltase deficiency disease", "Aglucosidase alfa", "Alpha-1,4-glucosidase deficiency", "Cardiomegalia glycogenica diffusa", "Deficiency of alpha-glucosidase", "Deficiency of lysosomal alpha-glucosidase", "GLYCOGENOSIS, GENERALIZED, CARDIAC FORM", "GSD II", "Glycogen Storage Disease Type II (Pompe Disease)", "Glycogen storage disease type 2", "Glycogen storage disease, type II"], "diseaseFromSource": "Glycogen storage disease, type II", "diseaseFromSourceId": "C0017921", "diseaseFromSourceMappedId": "Orphanet_365", "variantHgvsId": "NC_000017.11:g.80118365C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001403013", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000101347", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "20_36911288_T_C", "cohortPhenotypes": ["Aicardi-Goutieres syndrome 5"], "diseaseFromSource": "Aicardi-Goutieres syndrome 5", "diseaseFromSourceId": "C2749659", "variantHgvsId": "NC_000020.11:g.36911288T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001405188", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000138375", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_216450935_G_A", "cohortPhenotypes": ["Schimke immuno-osseous dysplasia", "Schimke immunoosseous dysplasia", "Schimke syndrome", "Spondyloepiphyseal dysplasia nephrotic syndrome"], "diseaseFromSource": "Schimke immuno-osseous dysplasia", "diseaseFromSourceId": "C0877024", "diseaseFromSourceMappedId": "MONDO_0009458", "variantHgvsId": "NC_000002.12:g.216450935G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001405188", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000138375", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_216450935_G_A", "cohortPhenotypes": ["Schimke immuno-osseous dysplasia", "Schimke immunoosseous dysplasia", "Schimke syndrome", "Spondyloepiphyseal dysplasia nephrotic syndrome"], "diseaseFromSource": "Schimke immuno-osseous dysplasia", "diseaseFromSourceId": "C0877024", "diseaseFromSourceMappedId": "Orphanet_1830", "variantHgvsId": "NC_000002.12:g.216450935G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001406516", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_141579091_C_T", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "MONDO_0007424", "variantHgvsId": "NC_000005.10:g.141579091C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001406516", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_141579091_C_T", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000005.10:g.141579091C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001406516", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_141579091_C_T", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "diseaseFromSourceId": "C4225261", "diseaseFromSourceMappedId": "MONDO_0014714", "variantHgvsId": "NC_000005.10:g.141579091C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407545", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000046604", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "18_31519811_C_T", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10", "Arrhythmogenic right ventricular cardiomyopathy, type 10", "Arrhythmogenic right ventricular dysplasia 10", "Arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 10"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 10", "diseaseFromSourceId": "C1857777", "diseaseFromSourceMappedId": "Orphanet_247", "variantHgvsId": "NC_000018.10:g.31519811C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001410350", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000129757", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "11_2884860_G_GGGGGCCGGGGCCGGGGCC", "cohortPhenotypes": ["Beckwith-Wiedemann syndrome", "EMG Syndrome", "Exomphalos macroglossia gigantism syndrome"], "diseaseFromSource": "Beckwith-Wiedemann syndrome", "diseaseFromSourceId": "C0004903", "diseaseFromSourceMappedId": "MONDO_0007534", "variantHgvsId": "NC_000011.10:g.2884866CGGGGC[7]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001418517", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000108556", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_4899476_G_A", "cohortPhenotypes": ["CONGENITAL MYASTHENIC SYNDROME TYPE Ia1", "Congenital myasthenic syndrome 4A", "MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, AUTOSOMAL RECESSIVE", "Myasthenic syndrome, congenital, 4a, slow-channel"], "diseaseFromSource": "Congenital myasthenic syndrome 4A", "diseaseFromSourceId": "C4225413", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000017.11:g.4899476G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001418517", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000205710", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "17_4899476_G_A", "cohortPhenotypes": ["CONGENITAL MYASTHENIC SYNDROME TYPE Ia1", "Congenital myasthenic syndrome 4A", "MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, AUTOSOMAL RECESSIVE", "Myasthenic syndrome, congenital, 4a, slow-channel"], "diseaseFromSource": "Congenital myasthenic syndrome 4A", "diseaseFromSourceId": "C4225413", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000017.11:g.4899476G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001422989", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000139687", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "13_48379596_A_T", "cohortPhenotypes": ["Eye cancer, retinoblastoma", "RETINOBLASTOMA, SOMATIC", "Retinoblastoma"], "diseaseFromSource": "Retinoblastoma", "diseaseFromSourceId": "C0035335", "diseaseFromSourceMappedId": "MONDO_0008380", "variantHgvsId": "NC_000013.11:g.48379596A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001425620", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000197943", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_81786077_G_T", "cohortPhenotypes": ["ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED", "FAMILIAL ATYPICAL COLD URTICARIA", "Familial cold autoinflammatory syndrome 3"], "diseaseFromSource": "Familial cold autoinflammatory syndrome 3", "diseaseFromSourceId": "C3280914", "diseaseFromSourceMappedId": "Orphanet_247868", "variantHgvsId": "NC_000016.10:g.81786077G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001430134", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000138078", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_44326835_C_T", "cohortPhenotypes": ["Myasthenic syndrome, congenital, 22", "PREPL DEFICIENCY"], "diseaseFromSource": "Myasthenic syndrome, congenital, 22", "diseaseFromSourceId": "C4479088", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000002.12:g.44326835C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001442253", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000055118", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "7_150947399_G_A", "cohortPhenotypes": ["Long QT syndrome"], "diseaseFromSource": "Long QT syndrome", "diseaseFromSourceId": "C0023976", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000007.14:g.150947399G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001446314", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000110090", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_68799323_T_C", "cohortPhenotypes": ["CPT deficiency, hepatic, type IA", "CPT1A deficiency", "Carnitine Palmitoyltransferase IA Deficiency", "Carnitine palmitoyl transferase 1 deficiency", "Carnitine palmitoyl transferase 1A deficiency", "Carnitine palmitoyltransferase 1A deficiency", "Carnitine palmitoyltransferase type I deficiency", "Hepatic CPT1", "Hepatic carnitine palmitoyltransferase 1 deficiency", "L-CPT 1 deficiency"], "diseaseFromSource": "Carnitine palmitoyl transferase 1A deficiency", "diseaseFromSourceId": "C1829703", "diseaseFromSourceMappedId": "Orphanet_156", "variantHgvsId": "NC_000011.10:g.68799323T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001446314", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000110090", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_68799323_T_C", "cohortPhenotypes": ["CPT deficiency, hepatic, type IA", "CPT1A deficiency", "Carnitine Palmitoyltransferase IA Deficiency", "Carnitine palmitoyl transferase 1 deficiency", "Carnitine palmitoyl transferase 1A deficiency", "Carnitine palmitoyltransferase 1A deficiency", "Carnitine palmitoyltransferase type I deficiency", "Hepatic CPT1", "Hepatic carnitine palmitoyltransferase 1 deficiency", "L-CPT 1 deficiency"], "diseaseFromSource": "Carnitine palmitoyl transferase 1A deficiency", "diseaseFromSourceId": "C1829703", "diseaseFromSourceMappedId": "MONDO_0009705", "variantHgvsId": "NC_000011.10:g.68799323T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001457218", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000184470", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "22_19918970_G_A", "variantRsId": "rs575321083", "cohortPhenotypes": ["Dilated Cardiomyopathy", "Primary dilated cardiomyopathy"], "diseaseFromSource": "Primary dilated cardiomyopathy", "diseaseFromSourceId": "C0007193", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000022.11:g.19918970G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely 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"diseaseFromSource": "Developmental and epileptic encephalopathy, 31", "diseaseFromSourceId": "C4225357", "diseaseFromSourceMappedId": "Orphanet_2382", "variantHgvsId": "NC_000009.12:g.128234044G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001472009", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "14_23415841_C_G", "cohortPhenotypes": ["Hypertrophic cardiomyopathy"], "diseaseFromSource": "Hypertrophic cardiomyopathy", "diseaseFromSourceId": "C0007194", "diseaseFromSourceMappedId": "EFO_0000538", "variantHgvsId": "NC_000014.9:g.23415841C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001472522", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178782223_G_A", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Dilated cardiomyopathy 1G", "diseaseFromSourceId": "C1858763", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000002.12:g.178782223G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001472522", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178782223_G_A", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy 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"studyId": "RCV001474561", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154354843_G_A", "variantRsId": "rs782086308", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked 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"variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154354843_G_A", "variantRsId": "rs782086308", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Melnick-Needles 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["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Frontometaphyseal dysplasia", "diseaseFromSourceId": "C0265293", "diseaseFromSourceMappedId": "MONDO_0015942", "variantHgvsId": "NC_000023.11:g.154354843G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001481529", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000169710", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_82088381_C_A", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000017.11:g.82088381C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV002250420", "releaseDate": "2022-06-01", "targetFromSourceId": "ENSG00000135100", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_120999579_AGCATCCAGCACCT_GGCATCCAGCACC", "cohortPhenotypes": ["Monogenic diabetes"], "diseaseFromSource": "Monogenic diabetes", "diseaseFromSourceId": "C3888631", "diseaseFromSourceMappedId": "EFO_1001511", "variantHgvsId": "NC_000012.12:g.120999579_120999592delinsGGCATCCAGCACC"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000115638", "releaseDate": "2014-05-17", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_214781250_C_CT", "variantRsId": "rs587780033", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214781257dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting classifications", "literature": ["1755842"], "studyId": "RCV000000579", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000066926", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_57559148_C_T", "variantRsId": "rs118204037", "cohortPhenotypes": ["Erythropoietic Protoporphyria, Autosomal Recessive", "Ferrochelatase deficiency", "Heme synthetase deficiency", "Protoporphyria, erythropoietic, 1"], "diseaseFromSource": "Protoporphyria, erythropoietic, 1", "diseaseFromSourceId": "C4692546", "diseaseFromSourceMappedId": "MONDO_0060729", "variantHgvsId": "NC_000018.10:g.57559148C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "literature": ["22305531", "24706016", "26545172", "8599356"], "studyId": "RCV000022881", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000165195", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "X_15321727_G_A", "variantRsId": "rs387906726", "cohortPhenotypes": ["EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 20", "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4", "Multiple congenital anomalies-hypotonia-seizures syndrome 2"], "diseaseFromSource": "Multiple congenital anomalies-hypotonia-seizures syndrome 2", "diseaseFromSourceId": "C3275508", "diseaseFromSourceMappedId": "Orphanet_300496", "variantHgvsId": "NC_000023.11:g.15321727G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000204855", "releaseDate": "2016-01-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_178713381_T_TACAAAACAAAACAAAACAAA", "variantRsId": "rs71393436", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Dilated cardiomyopathy 1G", "diseaseFromSourceId": "C1858763", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000002.12:g.178713383CAAAA[10]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000204855", "releaseDate": "2016-01-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_178713381_T_TACAAAACAAAACAAAACAAA", "variantRsId": "rs71393436", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "MONDO_0012127", "variantHgvsId": "NC_000002.12:g.178713383CAAAA[10]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000204855", "releaseDate": "2016-01-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_178713381_T_TACAAAACAAAACAAAACAAA", "variantRsId": "rs71393436", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.178713383CAAAA[10]"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000226635", "releaseDate": "2016-07-01", "targetFromSourceId": "ENSG00000160957", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "8_144514533_T_C", "variantRsId": "rs373357384", "cohortPhenotypes": ["Baller-Gerold syndrome", "Craniosynostosis radial aplasia syndrome", "Craniosynostosis with radial defects"], "diseaseFromSource": "Baller-Gerold syndrome", "diseaseFromSourceId": "C0265308", "diseaseFromSourceMappedId": "MONDO_0009039", "variantHgvsId": "NC_000008.11:g.144514533T>C"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000232400", "releaseDate": "2016-07-01", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_112843065_A_G", "variantRsId": "rs375674083", "cohortPhenotypes": ["APC-Associated Polyposis Conditions", "FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED", "Familial adenomatous polyposis 1", "POLYPOSIS, ADENOMATOUS INTESTINAL"], "diseaseFromSource": "Familial adenomatous polyposis 1", "diseaseFromSourceId": "C2713442", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112843065A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single 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"diseaseFromSourceMappedId": "MONDO_0010679", "variantHgvsId": "NC_000023.11:g.32343306T>A"} -{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002259428", "releaseDate": "2022-07-01", "targetFromSourceId": "ENSG00000003393", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_201761647_C_T", "cohortPhenotypes": ["Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis", "Infantile-onset ascending hereditary spastic paralysis", "Spastic paralysis, infantile onset ascending"], "diseaseFromSource": "Infantile-onset ascending hereditary spastic paralysis", "diseaseFromSourceId": "C2931441", "diseaseFromSourceMappedId": "MONDO_0011797", "variantHgvsId": "NC_000002.12:g.201761647C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000386249", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000198707", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_88141254_C_T", "variantRsId": "rs886049885", "cohortPhenotypes": ["Bardet-Biedl syndrome 14"], "diseaseFromSource": "Bardet-Biedl syndrome 14", "diseaseFromSourceId": "C2673874", "diseaseFromSourceMappedId": "MONDO_0015229", "variantHgvsId": "NC_000012.12:g.88141254C>T"} -{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000420510", "releaseDate": "2017-03-08", "targetFromSourceId": "ENSG00000141510", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_7675076_T_G", "variantRsId": "rs1057519991", "cohortPhenotypes": ["Malignant neoplasm of body of uterus"], "diseaseFromSource": "Malignant neoplasm of body of uterus", "diseaseFromSourceId": "C0153574", "diseaseFromSourceMappedId": "EFO_0003859", "variantHgvsId": "NC_000017.11:g.7675076T>G"} -{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000426641", "releaseDate": "2017-03-08", "targetFromSourceId": "ENSG00000100393", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_41169525_G_T", "variantRsId": "rs1057519889", "cohortPhenotypes": ["Carcinoma, squamous cell of head and neck", "Head and neck squamous cell carcinoma", "Squamous cell carcinoma of the head and neck", "Squamous cell carcinoma, head and neck, somatic"], "diseaseFromSource": "Squamous cell carcinoma of the head and neck", "diseaseFromSourceId": "C1168401", "diseaseFromSourceMappedId": "EFO_0000181", "variantHgvsId": "NC_000022.11:g.41169525G>T"} -{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000429897", "releaseDate": "2017-03-08", "targetFromSourceId": "ENSG00000141510", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_7674917_T_A", "variantRsId": "rs1057520007", "cohortPhenotypes": ["Lung cancer, squamous cell, somatic", "Squamous cell carcinoma of lung", "Squamous cell lung carcinoma"], "diseaseFromSource": "Squamous cell lung carcinoma", "diseaseFromSourceId": "C0149782", "diseaseFromSourceMappedId": "EFO_0000708", "variantHgvsId": "NC_000017.11:g.7674917T>A"} -{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000432990", "releaseDate": "2017-03-08", "targetFromSourceId": "ENSG00000141510", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_7674237_G_C", "variantRsId": "rs375874539", "cohortPhenotypes": ["Carcinoma of esophagus", "Esophageal carcinoma", "Oesophageal carcinoma"], "diseaseFromSource": "Carcinoma of esophagus", "diseaseFromSourceId": "C0152018", "diseaseFromSourceMappedId": "EFO_0002916", "variantHgvsId": "NC_000017.11:g.7674237G>C"} -{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000442928", "releaseDate": "2017-03-08", "targetFromSourceId": "ENSG00000109670", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_152326136_C_T", "variantRsId": "rs1057519896", "cohortPhenotypes": ["Malignant neoplasm of body of uterus"], "diseaseFromSource": "Malignant neoplasm of body of uterus", "diseaseFromSourceId": "C0153574", "diseaseFromSourceMappedId": "EFO_0003859", "variantHgvsId": "NC_000004.12:g.152326136C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000629277", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000124721", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_38845575_A_T", "variantRsId": "rs943252271", "cohortPhenotypes": ["Ciliary dyskinesia", "Primary ciliary dyskinesia"], "diseaseFromSource": "Primary ciliary dyskinesia", "diseaseFromSourceId": "C0008780", "diseaseFromSourceMappedId": "MONDO_0016575", "variantHgvsId": "NC_000006.12:g.38845575A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000862148", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000039139", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_13900398_A_G", "variantRsId": "rs140630779", "cohortPhenotypes": ["Ciliary dyskinesia", "Primary ciliary dyskinesia"], "diseaseFromSource": "Primary ciliary dyskinesia", "diseaseFromSourceId": "C0008780", "diseaseFromSourceMappedId": "MONDO_0016575", "variantHgvsId": "NC_000005.10:g.13900398A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001062748", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000148384", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_136433223_G_A", "variantRsId": "rs536052523", "cohortPhenotypes": ["Agenesis of cerebellar vermis", "CEREBELLOPARENCHYMAL DISORDER IV", "Cerebellar vermis agenesis", "Cerebelloparenchymal disorder 4", "Familial aplasia of the vermis", "Joubert syndrome", "Joubert-Boltshauser syndrome"], "diseaseFromSource": "Joubert syndrome", "diseaseFromSourceId": "C0431399", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000009.12:g.136433223G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001406468", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000157856", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_26454671_A_G", "cohortPhenotypes": ["Ciliary dyskinesia", "Primary ciliary dyskinesia"], "diseaseFromSource": "Primary ciliary dyskinesia", "diseaseFromSourceId": "C0008780", "diseaseFromSourceMappedId": "MONDO_0016575", "variantHgvsId": "NC_000002.12:g.26454671A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001458778", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000039139", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_13811719_G_A", "cohortPhenotypes": ["Ciliary dyskinesia", "Primary ciliary dyskinesia"], "diseaseFromSource": "Primary ciliary dyskinesia", "diseaseFromSourceId": "C0008780", "diseaseFromSourceMappedId": "MONDO_0016575", "variantHgvsId": "NC_000005.10:g.13811719G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001830443", "releaseDate": "2022-07-02", "targetFromSourceId": "ENSG00000011143", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "17_58206159_G_A", "variantRsId": "rs772719574", "cohortPhenotypes": ["MECKEL-GRUBER SYNDROME, TYPE 1", "Meckel syndrome, type 1"], "diseaseFromSource": "Meckel syndrome, type 1", "diseaseFromSourceId": "C3714506", "variantHgvsId": "NC_000017.11:g.58206159G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001908488", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000148384", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "9_136433249_C_CGTGTCCTGCAGACGA", "cohortPhenotypes": ["Agenesis of cerebellar vermis", "CEREBELLOPARENCHYMAL DISORDER IV", "Cerebellar vermis agenesis", "Cerebelloparenchymal disorder 4", "Familial aplasia of the vermis", "Joubert syndrome", "Joubert-Boltshauser syndrome"], "diseaseFromSource": "Joubert syndrome", "diseaseFromSourceId": "C0431399", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000009.12:g.136433250_136433251GT[2]CCTGCAGACGAGT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002046656", "releaseDate": "2022-07-02", "targetFromSourceId": "ENSG00000011143", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_58214379_C_A", "cohortPhenotypes": ["Agenesis of cerebellar vermis", "CEREBELLOPARENCHYMAL DISORDER IV", "Cerebellar vermis agenesis", "Cerebelloparenchymal disorder 4", "DYSENCEPHALIA SPLANCHNOCYSTICA", "Dysencephalia splachnocystica", "Familial aplasia of the vermis", "Gruber syndrome", "Joubert syndrome", "Joubert-Boltshauser syndrome", "Meckel-Gruber syndrome"], "diseaseFromSource": "Joubert syndrome", "diseaseFromSourceId": "C0431399", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000017.11:g.58214379C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002046656", "releaseDate": "2022-07-02", "targetFromSourceId": "ENSG00000011143", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_58214379_C_A", "cohortPhenotypes": ["Agenesis of cerebellar vermis", "CEREBELLOPARENCHYMAL DISORDER IV", "Cerebellar vermis agenesis", "Cerebelloparenchymal disorder 4", "DYSENCEPHALIA SPLANCHNOCYSTICA", "Dysencephalia splachnocystica", "Familial aplasia of the vermis", "Gruber syndrome", "Joubert syndrome", "Joubert-Boltshauser syndrome", "Meckel-Gruber syndrome"], "diseaseFromSource": "Meckel-Gruber syndrome", "diseaseFromSourceId": "C0265215", "diseaseFromSourceMappedId": "MONDO_0018921", "variantHgvsId": "NC_000017.11:g.58214379C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000303252", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000007314", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_63971780_C_T", "variantRsId": "rs778661227", "cohortPhenotypes": ["Hypokalemic periodic paralysis, type 2"], "diseaseFromSource": "Hypokalemic periodic paralysis, type 2", "diseaseFromSourceId": "C2750061", "diseaseFromSourceMappedId": "MONDO_0008223", "variantHgvsId": "NC_000017.11:g.63971780C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000293484", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000084073", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "1_40281517_CTAAAGT_C", "variantRsId": "rs747563189", "cohortPhenotypes": ["Mandibuloacral dysostosis", "Mandibuloacral dysplasia"], "diseaseFromSource": "Mandibuloacral dysplasia", "diseaseFromSourceId": "C0432291", "diseaseFromSourceMappedId": "Orphanet_2457", "variantHgvsId": "NC_000001.11:g.40281518TAAAGT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000293484", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000084073", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "1_40281517_CTAAAGT_C", "variantRsId": "rs747563189", "cohortPhenotypes": ["Mandibuloacral dysostosis", "Mandibuloacral dysplasia"], "diseaseFromSource": "Mandibuloacral dysplasia", "diseaseFromSourceId": "C0432291", "diseaseFromSourceMappedId": "MONDO_0016584", "variantHgvsId": "NC_000001.11:g.40281518TAAAGT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000368442", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000165102", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_43201827_A_G", "variantRsId": "rs78930544", "cohortPhenotypes": ["Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency", "MPS 3C", "MPS III C", "MUCOPOLYSACCHARIDOSIS, TYPE IIIC", "Mucopoly-saccharidosis type 3C", "Mucopolysaccharidosis type IIIC (Sanfilippo C)", "Mucopolysaccharidosis, MPS-III-C", "Sanfilippo syndrome C"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-III-C", "diseaseFromSourceId": "C0086649", "diseaseFromSourceMappedId": "MONDO_0009657", "variantHgvsId": "NC_000008.11:g.43201827A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000378131", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000165102", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_43200603_G_A", "variantRsId": "rs886062957", "cohortPhenotypes": ["Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency", "MPS 3C", "MPS III C", "MUCOPOLYSACCHARIDOSIS, TYPE IIIC", "Mucopoly-saccharidosis type 3C", "Mucopolysaccharidosis type IIIC (Sanfilippo C)", "Mucopolysaccharidosis, MPS-III-C", "Sanfilippo syndrome C"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-III-C", "diseaseFromSourceId": "C0086649", "diseaseFromSourceMappedId": "MONDO_0009657", "variantHgvsId": "NC_000008.11:g.43200603G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000667105", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000108784", "variantFunctionalConsequenceId": "SO_0001821", "variantId": "17_42536473_G_GGCC", "variantRsId": "rs1469781984", "cohortPhenotypes": ["MPS 3B", "MPS III B", "MUCOPOLYSACCHARIDOSIS, TYPE IIIB", "Mucopoly-saccharidosis type 3B", "Mucopolysaccharidosis type IIIB (Sanfilippo B)", "Mucopolysaccharidosis, MPS-III-B", "N-acetyl-alpha-d-glucosaminidase deficiency", "NAGLU DEFICIENCY", "Sanfilippo syndrome B"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-III-B", "diseaseFromSourceId": "C0086648", "diseaseFromSourceMappedId": "MONDO_0009656", "variantHgvsId": "NC_000017.11:g.42536474_42536475insCCG"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001162513", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000165102", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_43202160_G_A", "variantRsId": "rs760484403", "cohortPhenotypes": ["Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency", "MPS 3C", "MPS III C", "MUCOPOLYSACCHARIDOSIS, TYPE IIIC", "Mucopoly-saccharidosis type 3C", "Mucopolysaccharidosis type IIIC (Sanfilippo C)", "Mucopolysaccharidosis, MPS-III-C", "Sanfilippo syndrome C"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-III-C", "diseaseFromSourceId": "C0086649", "diseaseFromSourceMappedId": "MONDO_0009657", "variantHgvsId": "NC_000008.11:g.43202160G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001798871", "releaseDate": "2022-07-08", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37004437_A_G", "variantRsId": "rs371667663", "cohortPhenotypes": ["Breast and/or ovarian cancer"], "diseaseFromSource": "Breast and/or ovarian cancer", "diseaseFromSourceId": "CN221562", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000003.12:g.37004437A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001858687", "releaseDate": "2022-07-08", "targetFromSourceId": "ENSG00000135069", "variantFunctionalConsequenceId": "SO_0001787", "variantId": "9_78300667_G_A", "variantRsId": "rs372232840", "cohortPhenotypes": ["Neu-Laxova syndrome 2"], "diseaseFromSource": "Neu-Laxova syndrome 2", "diseaseFromSourceId": "C4015019", "diseaseFromSourceMappedId": "MONDO_0000179", "variantHgvsId": "NC_000009.12:g.78300667G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "literature": ["22305531", "24706016", "26545172", "8599356"], "studyId": "RCV000022881", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000165195", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "X_15321727_G_A", "variantRsId": "rs387906726", "cohortPhenotypes": ["DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 20", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 20", "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4", "Multiple congenital anomalies-hypotonia-seizures syndrome 2"], "diseaseFromSource": "Multiple congenital anomalies-hypotonia-seizures syndrome 2", "diseaseFromSourceId": "C3275508", "diseaseFromSourceMappedId": "Orphanet_300496", "variantHgvsId": "NC_000023.11:g.15321727G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "literature": ["9562578"], "studyId": "RCV000035487", "releaseDate": "2013-05-03", "targetFromSourceId": "ENSG00000134571", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_47337729_A_AC", "variantRsId": "rs397515963", "cohortPhenotypes": ["Familial hypertrophic cardiomyopathy 4", "Hypertrophic cardiomyopathy 4"], "diseaseFromSource": "Hypertrophic cardiomyopathy 4", "diseaseFromSourceId": "C1861862", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000011.10:g.47337730dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000115482", "releaseDate": "2014-05-17", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37007004_G_C", "variantRsId": "rs28930073", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000003.12:g.37007004G>C"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000297206", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000170289", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_86575814_G_C", "variantRsId": "rs142846289", "cohortPhenotypes": ["Juvenile onset macular degeneration", "MACULAR DYSTROPHY WITH FLECKS, TYPE 1", "STGD", "Severe early-childhood-onset retinal dystrophy", "Stargardt disease 1", "Stargardt macular dystrophy"], "diseaseFromSource": "Severe early-childhood-onset retinal dystrophy", "diseaseFromSourceId": "C1855465", "diseaseFromSourceMappedId": "MONDO_0009549", "variantHgvsId": "NC_000008.11:g.86575814G>C"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000297206", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000170289", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_86575814_G_C", "variantRsId": "rs142846289", "cohortPhenotypes": ["Juvenile onset macular degeneration", "MACULAR DYSTROPHY WITH FLECKS, TYPE 1", "STGD", "Severe early-childhood-onset retinal dystrophy", "Stargardt disease 1", "Stargardt macular dystrophy"], "diseaseFromSource": "Severe early-childhood-onset retinal dystrophy", "diseaseFromSourceId": "C1855465", "diseaseFromSourceMappedId": "Orphanet_827", "variantHgvsId": "NC_000008.11:g.86575814G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000477503", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000182389", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_151839269_C_T", "variantRsId": "rs1805029", "cohortPhenotypes": ["EIG", "Generalised epilepsy", "Idiopathic generalized epilepsy"], "diseaseFromSource": "Idiopathic generalized epilepsy", "diseaseFromSourceId": "C0270850", "diseaseFromSourceMappedId": "EFO_0005917", "variantHgvsId": "NC_000002.12:g.151839269C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000545691", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000070748", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_49625509_G_A", "variantRsId": "rs114090981", "cohortPhenotypes": ["Congenital myasthenic syndrome 6", "Congenital myasthenic syndrome with episodic apnea", "FIMG2 (formerly)", "Familial infantile myasthenia", "MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC", "Myasthenic syndrome congenital associated with episodic apnea", "Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea"], "diseaseFromSource": "Familial infantile myasthenia", "diseaseFromSourceId": "C0393929", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000010.11:g.49625509G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000554112", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000146038", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_24178612_G_A", "variantRsId": "rs143313706", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 66", "Deafness, autosomal recessive 66", "Isolated neonatal sclerosing cholangitis", "Sclerosing cholangitis, neonatal"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 66", "diseaseFromSourceId": "C1857750", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000006.12:g.24178612G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000554112", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000146038", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_24178612_G_A", "variantRsId": "rs143313706", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 66", "Deafness, autosomal recessive 66", "Isolated neonatal sclerosing cholangitis", "Sclerosing cholangitis, neonatal"], "diseaseFromSource": "Isolated neonatal sclerosing cholangitis", "diseaseFromSourceId": "C4479344", "diseaseFromSourceMappedId": "EFO_0004268", "variantHgvsId": "NC_000006.12:g.24178612G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000621747", "releaseDate": "2018-04-14", "targetFromSourceId": "ENSG00000134755", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_31086611_C_T", "variantRsId": "rs145560678", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000018.10:g.31086611C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000779383", "releaseDate": "2019-05-27", "targetFromSourceId": "ENSG00000163914", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_129533696_C_T", "variantRsId": "rs183318466", "cohortPhenotypes": ["Retinitis pigmentosa", "Tapetoretinal degeneration"], "diseaseFromSource": "Retinitis pigmentosa", "diseaseFromSourceId": "C0035334", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000003.12:g.129533696C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000852500", "releaseDate": "2019-10-12", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178566906_C_T", "variantRsId": "rs72648206", "cohortPhenotypes": ["Cardiomyopathies", "Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy", "diseaseFromSourceId": "C0878544", "diseaseFromSourceMappedId": "EFO_0000318", "variantHgvsId": "NC_000002.12:g.178566906C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["benign", "likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000790882", "releaseDate": "2019-08-04", "targetFromSourceId": "ENSG00000112761", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_112061190_G_A", "variantRsId": "rs147337485", "cohortPhenotypes": ["Autosomal recessive spondyloepiphyseal dysplasia tarda", "Progressive Pseudorheumatoid Arthropathy of Childhood", "Progressive pseudorheumatoid dysplasia", "SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY", "Spondyloepiphyseal dysplasia tarda progressive arthropathy"], "diseaseFromSource": "Progressive pseudorheumatoid dysplasia", "diseaseFromSourceId": "C0432215", "diseaseFromSourceMappedId": "MONDO_0008827", "variantHgvsId": "NC_000006.12:g.112061190G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000887488", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000141837", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_13259614_C_T", "variantRsId": "rs371952826", "cohortPhenotypes": ["Acetazolamide-responsive episodic ataxia syndrome", "Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia", "Ataxia, familial, paroxysmal", "Cerebellar ataxia, paroxysmal, Acetazolamide-responsive", "Cerebellopathy, hereditary paroxysmal", "Developmental and epileptic encephalopathy, 42", "Epileptic encephalopathy, early infantile, 42", "Episodic ataxia type 2", "Episodic ataxia with nystagmus", "Nystagmus-associated episodic ataxia"], "diseaseFromSource": "Episodic ataxia type 2", "diseaseFromSourceId": "C1720416", "diseaseFromSourceMappedId": "Orphanet_97", "variantHgvsId": "NC_000019.10:g.13259614C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000887488", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000141837", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_13259614_C_T", "variantRsId": "rs371952826", "cohortPhenotypes": ["Acetazolamide-responsive episodic ataxia syndrome", "Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia", "Ataxia, familial, paroxysmal", "Cerebellar ataxia, paroxysmal, Acetazolamide-responsive", "Cerebellopathy, hereditary paroxysmal", "Developmental and epileptic encephalopathy, 42", "Epileptic encephalopathy, early infantile, 42", "Episodic ataxia type 2", "Episodic ataxia with nystagmus", "Nystagmus-associated episodic ataxia"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 42", "diseaseFromSourceId": "C4310716", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000019.10:g.13259614C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000887488", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000141837", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_13259614_C_T", "variantRsId": "rs371952826", "cohortPhenotypes": ["Acetazolamide-responsive episodic ataxia syndrome", "Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia", "Ataxia, familial, paroxysmal", "Cerebellar ataxia, paroxysmal, Acetazolamide-responsive", "Cerebellopathy, hereditary paroxysmal", "Developmental and epileptic encephalopathy, 42", "Epileptic encephalopathy, early infantile, 42", "Episodic ataxia type 2", "Episodic ataxia with nystagmus", "Nystagmus-associated episodic ataxia"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 42", "diseaseFromSourceId": "C4310716", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000019.10:g.13259614C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001129505", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178573906_A_C", "variantRsId": "rs202098308", "cohortPhenotypes": ["EDSTROM MYOPATHY", "Hereditary myopathy with early respiratory failure", "MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT", "Myopathy, distal, with early respiratory failure, autosomal dominant", "Myopathy, myofibrillar, 9, with early respiratory failure"], "diseaseFromSource": "Myopathy, myofibrillar, 9, with early respiratory failure", "diseaseFromSourceId": "C1863599", "diseaseFromSourceMappedId": "Orphanet_178464", "variantHgvsId": "NC_000002.12:g.178573906A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001133205", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178764187_A_C", "variantRsId": "rs142460433", "cohortPhenotypes": ["Early-onset myopathy with fatal cardiomyopathy", "Salih Myopathy"], "diseaseFromSource": "Early-onset myopathy with fatal cardiomyopathy", "diseaseFromSourceId": "C2673677", "diseaseFromSourceMappedId": "MONDO_0012714", "variantHgvsId": "NC_000002.12:g.178764187A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001860109", "releaseDate": "2022-07-09", "targetFromSourceId": "ENSG00000116198", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_3847559_T_G", "variantRsId": "rs779086283", "cohortPhenotypes": ["Joubert syndrome 25"], "diseaseFromSource": "Joubert syndrome 25", "diseaseFromSourceId": "C4084842", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000001.11:g.3847559T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "literature": ["1755842"], "studyId": "RCV000000579", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000066926", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_57559148_C_T", "variantRsId": "rs118204037", "cohortPhenotypes": ["Erythropoietic Protoporphyria, Autosomal Recessive", "Ferrochelatase deficiency", "Heme synthetase deficiency", "Protoporphyria, erythropoietic, 1"], "diseaseFromSource": "Protoporphyria, erythropoietic, 1", "diseaseFromSourceId": "C4692546", "diseaseFromSourceMappedId": "MONDO_0060729", "variantHgvsId": "NC_000018.10:g.57559148C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000344754", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000122863", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "10_72011189_G_A", "variantRsId": "rs115489836", "cohortPhenotypes": ["Bilateral dislocation of the knees, pes cavus, cylindrically shaped fingers and characteristic facies", "Larsen syndrome", "Larsen syndrome, dominant type"], "diseaseFromSource": "Larsen syndrome", "diseaseFromSourceId": "C0175778", "diseaseFromSourceMappedId": "Orphanet_503", "variantHgvsId": "NC_000010.11:g.72011189G>A"} -{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000422074", "releaseDate": "2017-03-08", "targetFromSourceId": "ENSG00000141510", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_7675209_A_C", "variantRsId": "rs1057519975", "cohortPhenotypes": ["Lung cancer, squamous cell, somatic", "Squamous cell carcinoma of lung", "Squamous cell lung carcinoma"], "diseaseFromSource": "Squamous cell lung carcinoma", "diseaseFromSourceId": "C0149782", "diseaseFromSourceMappedId": "EFO_0000708", "variantHgvsId": "NC_000017.11:g.7675209A>C"} -{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000426907", "releaseDate": "2017-03-08", "targetFromSourceId": "ENSG00000141510", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_7674241_G_A", "variantRsId": "rs28934573", "cohortPhenotypes": ["Uterine carcinosarcoma"], "diseaseFromSource": "Uterine carcinosarcoma", "diseaseFromSourceId": "C0280630", "diseaseFromSourceMappedId": "EFO_1000613", "variantHgvsId": "NC_000017.11:g.7674241G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000700548", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000198400", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_156868589_G_A", "variantRsId": "rs540751200", "cohortPhenotypes": ["FAMILIAL DYSAUTONOMIA, TYPE II", "Familial dysautonomia, type 2", "HSAN 4", "HSAN Type IV", "Hereditary Sensory and Autonomic Neuropathy Type IV", "Hereditary insensitivity to pain with anhidrosis", "Hereditary sensory and autonomic neuropathy 4", "Insensitivity to pain, congenital, with anhidrosis", "Neuropathy, congenital sensory, with anhidrosis"], "diseaseFromSource": "Hereditary insensitivity to pain with anhidrosis", "diseaseFromSourceId": "C0020074", "diseaseFromSourceMappedId": "MONDO_0009746", "variantHgvsId": "NC_000001.11:g.156868589G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002260995", "releaseDate": "2022-07-09", "targetFromSourceId": "ENSG00000132842", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_78129275_G_A", "variantRsId": "rs17192146", "cohortPhenotypes": ["Autoinflammatory syndrome"], "diseaseFromSource": "Autoinflammatory syndrome", "diseaseFromSourceId": "C3890737", "diseaseFromSourceMappedId": "MONDO_0019751", "variantHgvsId": "NC_000005.10:g.78129275G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000211653", "releaseDate": "2016-05-22", "targetFromSourceId": "ENSG00000130164", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_11113287_C_A", "variantRsId": "rs875989918", "cohortPhenotypes": ["Fredrickson type IIa hyperlipoproteinemia", "HYPER-LOW-DENSITY-LIPOPROTEINEMIA", "HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF", "HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL", "Hyper-beta-lipoproteinemia", "Hypercholesterolemia, familial, 1", "Hyperlipoproteinemia Type II", "Hyperlipoproteinemia Type IIa", "Hyperlipoproteinemia type 2", "LDL RECEPTOR DISORDER"], "diseaseFromSource": "Hypercholesterolemia, familial, 1", "diseaseFromSourceId": "C0745103", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000019.10:g.11113287C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000260467", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000006071", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_17404634_G_A", "variantRsId": "rs371089976", "cohortPhenotypes": ["HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS", "HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY", "Hyperinsulinemic hypoglycemia, familial, 1", "NESIDIOBLASTOSIS OF PANCREAS", "Persistent Hyperinsulinemia Hypoglycemia of Infancy", "Persistent hyperinsulinemic hypoglycemia of infancy"], "diseaseFromSource": "Hyperinsulinemic hypoglycemia, familial, 1", "diseaseFromSourceId": "C2931832", "diseaseFromSourceMappedId": "MONDO_0009734", "variantHgvsId": "NC_000011.10:g.17404634G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000260467", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000006071", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_17404634_G_A", "variantRsId": "rs371089976", "cohortPhenotypes": ["HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS", "HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY", "Hyperinsulinemic hypoglycemia, familial, 1", "NESIDIOBLASTOSIS OF PANCREAS", "Persistent Hyperinsulinemia Hypoglycemia of Infancy", "Persistent hyperinsulinemic hypoglycemia of infancy"], "diseaseFromSource": "Hyperinsulinemic hypoglycemia, familial, 1", "diseaseFromSourceId": "C2931832", "diseaseFromSourceMappedId": "Orphanet_657", "variantHgvsId": "NC_000011.10:g.17404634G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000297548", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000116218", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_179575717_G_A", "variantRsId": "rs886045596", "cohortPhenotypes": ["Nephrotic syndrome, idiopathic, steroid-resistant", "Nephrotic syndrome, steroid-resistant, autosomal recessive", "Nephrotic syndrome, type 2"], "diseaseFromSource": "Nephrotic syndrome, type 2", "diseaseFromSourceId": "C1868672", "diseaseFromSourceMappedId": "Orphanet_656", "variantHgvsId": "NC_000001.11:g.179575717G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000297548", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000116218", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_179575717_G_A", "variantRsId": "rs886045596", "cohortPhenotypes": ["Nephrotic syndrome, idiopathic, steroid-resistant", "Nephrotic syndrome, steroid-resistant, autosomal recessive", "Nephrotic syndrome, type 2"], "diseaseFromSource": "Nephrotic syndrome, type 2", "diseaseFromSourceId": "C1868672", "diseaseFromSourceMappedId": "MONDO_0019006", "variantHgvsId": "NC_000001.11:g.179575717G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000318832", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000182578", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_150053664_C_G", "variantRsId": "rs1058920", "cohortPhenotypes": ["Gliosis, familial progressive subcortical", "Hereditary diffuse leukoencephalopathy with spheroids", "LEUKOENCEPHALOPATHY, ADULT-ONSET, WITH AXONAL SPHEROIDS AND PIGMENTED GLIA", "Leukoencephalopathy with neuroaxonal spheroids, autosomal dominant"], "diseaseFromSource": "Hereditary diffuse leukoencephalopathy with spheroids", "diseaseFromSourceId": "C3711381", "diseaseFromSourceMappedId": "Orphanet_313808", "variantHgvsId": "NC_000005.10:g.150053664C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339422", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000187240", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_103455224_T_C", "variantRsId": "rs202199079", "cohortPhenotypes": ["Short rib-polydactyly syndrome"], "diseaseFromSource": "Short rib-polydactyly syndrome", "diseaseFromSourceId": "C0036996", "diseaseFromSourceMappedId": "MONDO_0015461", "variantHgvsId": "NC_000011.10:g.103455224T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000566663", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000185920", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_95461925_G_A", "variantRsId": "rs771732591", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000009.12:g.95461925G>A"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000669631", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000116218", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_179557134_A_T", "variantRsId": "rs779736229", "cohortPhenotypes": ["Nephrotic syndrome, idiopathic, steroid-resistant", "Nephrotic syndrome, steroid-resistant, autosomal recessive", "Nephrotic syndrome, type 2"], "diseaseFromSource": "Nephrotic syndrome, type 2", "diseaseFromSourceId": "C1868672", "diseaseFromSourceMappedId": "Orphanet_656", "variantHgvsId": "NC_000001.11:g.179557134A>T"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000669631", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000116218", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_179557134_A_T", "variantRsId": "rs779736229", "cohortPhenotypes": ["Nephrotic syndrome, idiopathic, steroid-resistant", "Nephrotic syndrome, steroid-resistant, autosomal recessive", "Nephrotic syndrome, type 2"], "diseaseFromSource": "Nephrotic syndrome, type 2", "diseaseFromSourceId": "C1868672", "diseaseFromSourceMappedId": "MONDO_0019006", "variantHgvsId": "NC_000001.11:g.179557134A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000696219", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000175084", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_219420949_G_A", "variantRsId": "rs1559353118", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2R", "DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY", "Desmin related myopathy (former name)", "Desmin storage myopathy (former name)", "Desmin-related myofibrillar myopathy", "Desminopathy", "Dilated cardiomyopathy 1F", "MYOFIBRILLAR MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY", "Muscular dystrophy, limb-girdle, type 2R", "Myofibrillar myopathy 1"], "diseaseFromSource": "Desmin-related myofibrillar myopathy", "diseaseFromSourceId": "C1832370", "diseaseFromSourceMappedId": "Orphanet_363543", "variantHgvsId": "NC_000002.12:g.219420949G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000696219", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000175084", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_219420949_G_A", "variantRsId": "rs1559353118", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2R", "DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY", "Desmin related myopathy (former name)", "Desmin storage myopathy (former name)", "Desmin-related myofibrillar myopathy", "Desminopathy", "Dilated cardiomyopathy 1F", "MYOFIBRILLAR MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY", "Muscular dystrophy, limb-girdle, type 2R", "Myofibrillar myopathy 1"], "diseaseFromSource": "Desmin-related myofibrillar myopathy", "diseaseFromSourceId": "C1832370", "diseaseFromSourceMappedId": "Orphanet_98909", "variantHgvsId": "NC_000002.12:g.219420949G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001107261", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000187240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_103211834_G_A", "variantRsId": "rs368447956", "cohortPhenotypes": ["Asphyxiating thoracic dystrophy 3", "POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I", "Polydactyly with neonatal chondrodystrophy type 1", "Polydactyly with neonatal chondrodystrophy type III", "SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC", "SRPS type 1", "SRPS type 3", "Saldino-Noonan Syndrome", "Short rib polydactyly syndrome 2B", "Short rib-polydactyly syndrome type 3", "Short rib-polydactyly syndrome Saldino-Noonan type", "Short rib-polydactyly syndrome type 1", "Short-rib polydactyly syndrome type I", "Short-rib polydactyly syndrome type III", "Short-rib thoracic dysplasia 3 with or without polydactyly", "Verma Naumoff syndrome"], "diseaseFromSource": "Asphyxiating thoracic dystrophy 3", "diseaseFromSourceId": "C0036069", "diseaseFromSourceMappedId": "Orphanet_93270", "variantHgvsId": "NC_000011.10:g.103211834G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001107261", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000187240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_103211834_G_A", "variantRsId": "rs368447956", "cohortPhenotypes": ["Asphyxiating thoracic dystrophy 3", "POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I", "Polydactyly with neonatal chondrodystrophy type 1", "Polydactyly with neonatal chondrodystrophy type III", "SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC", "SRPS type 1", "SRPS type 3", "Saldino-Noonan Syndrome", "Short rib polydactyly syndrome 2B", "Short rib-polydactyly syndrome type 3", "Short rib-polydactyly syndrome Saldino-Noonan type", "Short rib-polydactyly syndrome type 1", "Short-rib polydactyly syndrome type I", "Short-rib polydactyly syndrome type III", "Short-rib thoracic dysplasia 3 with or without polydactyly", "Verma Naumoff syndrome"], "diseaseFromSource": "Asphyxiating thoracic dystrophy 3", "diseaseFromSourceId": "C0036069", "diseaseFromSourceMappedId": "Orphanet_93271", "variantHgvsId": "NC_000011.10:g.103211834G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001107261", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000187240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_103211834_G_A", "variantRsId": "rs368447956", "cohortPhenotypes": ["Asphyxiating thoracic dystrophy 3", "POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I", "Polydactyly with neonatal chondrodystrophy type 1", "Polydactyly with neonatal chondrodystrophy type III", "SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC", "SRPS type 1", "SRPS type 3", "Saldino-Noonan Syndrome", "Short rib polydactyly syndrome 2B", "Short rib-polydactyly syndrome type 3", "Short rib-polydactyly syndrome Saldino-Noonan type", "Short rib-polydactyly syndrome type 1", "Short-rib polydactyly syndrome type I", "Short-rib polydactyly syndrome type III", "Short-rib thoracic dysplasia 3 with or without polydactyly", "Verma Naumoff syndrome"], "diseaseFromSource": "Asphyxiating thoracic dystrophy 3", "diseaseFromSourceId": "C0036069", "diseaseFromSourceMappedId": "Orphanet_93269", "variantHgvsId": "NC_000011.10:g.103211834G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001155615", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000182578", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_150068323_G_A", "variantRsId": "rs1757872206", "cohortPhenotypes": ["Gliosis, familial progressive subcortical", "Hereditary diffuse leukoencephalopathy with spheroids", "LEUKOENCEPHALOPATHY, ADULT-ONSET, WITH AXONAL SPHEROIDS AND PIGMENTED GLIA", "Leukoencephalopathy with neuroaxonal spheroids, autosomal dominant"], "diseaseFromSource": "Hereditary diffuse leukoencephalopathy with spheroids", "diseaseFromSourceId": "C3711381", "diseaseFromSourceMappedId": "Orphanet_313808", "variantHgvsId": "NC_000005.10:g.150068323G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002256830", "releaseDate": "2022-06-30", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_2086798_G_A", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000016.10:g.2086798G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000268693", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000109132", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "4_41745613_G_A", "variantRsId": "rs186778106", "cohortPhenotypes": ["Neuroblastoma 2", "Neuroblastoma, susceptibility to, 2"], "diseaseFromSource": "Neuroblastoma, susceptibility to, 2", "diseaseFromSourceId": "C2751682", "diseaseFromSourceMappedId": "EFO_0000621", "variantHgvsId": "NC_000004.12:g.41745613G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000410484", "releaseDate": "2017-01-06", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37025958_G_C", "variantRsId": "rs63750527", "cohortPhenotypes": ["COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2", "Colorectal cancer, hereditary nonpolyposis, type 2", "Hereditary non-polyposis colorectal cancer, type 2", "Lynch syndrome II", "MLH1-Related Lynch Syndrome"], "diseaseFromSource": "Colorectal cancer, hereditary nonpolyposis, type 2", "diseaseFromSourceId": "C1333991", "diseaseFromSourceMappedId": "MONDO_0005835", "variantHgvsId": "NC_000003.12:g.37025958G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000410484", "releaseDate": "2017-01-06", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37025958_G_C", "variantRsId": "rs63750527", "cohortPhenotypes": ["COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2", "Colorectal cancer, hereditary nonpolyposis, type 2", "Hereditary non-polyposis colorectal cancer, type 2", "Lynch syndrome II", "MLH1-Related Lynch Syndrome"], "diseaseFromSource": "Colorectal cancer, hereditary nonpolyposis, type 2", "diseaseFromSourceId": "C1333991", "diseaseFromSourceMappedId": "Orphanet_144", "variantHgvsId": "NC_000003.12:g.37025958G>C"} -{"alleleOrigins": ["germline", "inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000467266", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "17_31201471_C_T", "variantRsId": "rs764079291", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31201471C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000622503", "releaseDate": "2018-04-15", "targetFromSourceId": "ENSG00000185339", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "22_30614483_C_T", "variantRsId": "rs1456983114", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000022.11:g.30614483C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001090209", "releaseDate": "2020-05-12", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37020321_G_A", "variantRsId": "rs1553647926", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000003.12:g.37020321G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001090209", "releaseDate": "2020-05-12", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37020321_G_A", "variantRsId": "rs1553647926", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "MONDO_0011450", "variantHgvsId": "NC_000003.12:g.37020321G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000491359", "releaseDate": "2017-06-25", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "16_2088292_CCGGCTCCGCCACATCAAG_C", "variantRsId": "rs137854218", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000016.10:g.2088304_2088321del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19015492"], "studyId": "RCV000006286", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000007314", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_63957460_A_G", "variantRsId": "rs80338956", "cohortPhenotypes": ["Eulenburg disease", "Myotonia congenita intermittens", "Paralysis periodica paramyotonica", "Paramyotonia congenita", "Paramyotonia congenita of Von Eulenburg", "Von Eulenburg paramyotonia congenita"], "diseaseFromSource": "Paramyotonia congenita of Von Eulenburg", "diseaseFromSourceId": "C0221055", "diseaseFromSourceMappedId": "MONDO_0008195", "variantHgvsId": "NC_000017.11:g.63957460A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000197612", "releaseDate": "2015-10-11", "targetFromSourceId": "ENSG00000183765", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_28725254_G_A", "variantRsId": "rs137853007", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000022.11:g.28725254G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001049118", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000174469", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_148229669_C_G", "variantRsId": "rs756994633", "cohortPhenotypes": ["Cortical dysplasia-focal epilepsy syndrome", "Pitt-Hopkins-like syndrome 1"], "diseaseFromSource": "Cortical dysplasia-focal epilepsy syndrome", "diseaseFromSourceId": "C2750246", "diseaseFromSourceMappedId": "Orphanet_163681", "variantHgvsId": "NC_000007.14:g.148229669C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001049118", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000174469", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_148229669_C_G", "variantRsId": "rs756994633", "cohortPhenotypes": ["Cortical dysplasia-focal epilepsy syndrome", "Pitt-Hopkins-like syndrome 1"], "diseaseFromSource": "Cortical dysplasia-focal epilepsy syndrome", "diseaseFromSourceId": "C2750246", "diseaseFromSourceMappedId": "Orphanet_221150", "variantHgvsId": "NC_000007.14:g.148229669C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001249674", "releaseDate": "2020-07-25", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_1592176_C_T", "variantRsId": "rs201188361", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "Retinitis pigmentosa 80", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "Orphanet_140969", "variantHgvsId": "NC_000016.10:g.1592176C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001249674", "releaseDate": "2020-07-25", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_1592176_C_T", "variantRsId": "rs201188361", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "Retinitis pigmentosa 80", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "MONDO_0009964", "variantHgvsId": "NC_000016.10:g.1592176C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001249674", "releaseDate": "2020-07-25", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_1592176_C_T", "variantRsId": "rs201188361", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "Retinitis pigmentosa 80", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Retinitis pigmentosa 80", "diseaseFromSourceId": "C4540439", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000016.10:g.1592176C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001376273", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000163913", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_129476757_G_A", "variantRsId": "rs150550701", "cohortPhenotypes": ["Rod-cone dystrophy"], "diseaseFromSource": "Rod-cone dystrophy", "diseaseFromSourceId": "C4551714", "diseaseFromSourceMappedId": "Orphanet_1872", "variantHgvsId": "NC_000003.12:g.129476757G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001501915", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000177565", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "3_177026481_G_C", "variantRsId": "rs761210577", "cohortPhenotypes": ["Pierpont syndrome"], "diseaseFromSource": "Pierpont syndrome", "diseaseFromSourceId": "C1865644", "diseaseFromSourceMappedId": "MONDO_0011213", "variantHgvsId": "NC_000003.12:g.177026481G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001860109", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000116198", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_3847559_T_G", "variantRsId": "rs779086283", "cohortPhenotypes": ["Joubert syndrome 25"], "diseaseFromSource": "Joubert syndrome 25", "diseaseFromSourceId": "C4084842", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000001.11:g.3847559T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001893529", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000162004", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_724754_C_A", "variantRsId": "rs147504073", "cohortPhenotypes": ["Congenital myopathy with internal nuclei and atypical cores", "Myopathy, centronuclear, 4"], "diseaseFromSource": "Congenital myopathy with internal nuclei and atypical cores", "diseaseFromSourceId": "C4707232", "diseaseFromSourceMappedId": "MONDO_0013890", "variantHgvsId": "NC_000016.10:g.724754C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001893529", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000162004", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_724754_C_A", "variantRsId": "rs147504073", "cohortPhenotypes": ["Congenital myopathy with internal nuclei and atypical cores", "Myopathy, centronuclear, 4"], "diseaseFromSource": "Congenital myopathy with internal nuclei and atypical cores", "diseaseFromSourceId": "C4707232", "diseaseFromSourceMappedId": "Orphanet_595", "variantHgvsId": "NC_000016.10:g.724754C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002271124", "releaseDate": "2022-07-30", "targetFromSourceId": "ENSG00000041982", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_115086089_C_T", "variantRsId": "rs61729478", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 56", "Deafness, autosomal dominant 56"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 56", "diseaseFromSourceId": "C3810170", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000009.12:g.115086089C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005889", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "MONDO_0009779", "variantHgvsId": "NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005889", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "Orphanet_2733", "variantHgvsId": "NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005890", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "MONDO_0009779", "variantHgvsId": "NC_000013.11:g.94252984_94352299del99316insCTA"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005890", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "Orphanet_2733", "variantHgvsId": "NC_000013.11:g.94252984_94352299del99316insCTA"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000297988", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000142156", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "21_45990405_G_A", "variantRsId": "rs200835287", "cohortPhenotypes": ["Collagen 6-related myopathy", "Collagen VI-related myopathy"], "diseaseFromSource": "Collagen 6-related myopathy", "diseaseFromSourceId": "CN117976", "diseaseFromSourceMappedId": "MONDO_0100225", "variantHgvsId": "NC_000021.9:g.45990405G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000320492", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000108821", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_50185886_C_G", "variantRsId": "rs886053159", "cohortPhenotypes": ["Osteogenesis imperfecta"], "diseaseFromSource": "Osteogenesis imperfecta", "diseaseFromSourceId": "C0029434", "diseaseFromSourceMappedId": "MONDO_0019019", "variantHgvsId": "NC_000017.11:g.50185886C>G"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000327439", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000112619", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "6_42697752_C_T", "variantRsId": "rs432753", "cohortPhenotypes": ["Adult-onset foveomacular vitelliform dystrophy", "FOVEOMACULAR DYSTROPHY, ADULT-ONSET", "FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION", "Macular dystrophy, vitelliform, adult-onset"], "diseaseFromSource": "Adult-onset foveomacular vitelliform dystrophy", "diseaseFromSourceId": "C1842914", "diseaseFromSourceMappedId": "MONDO_0011979", "variantHgvsId": "NC_000006.12:g.42697752C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000327439", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000112619", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "6_42697752_C_T", "variantRsId": "rs432753", "cohortPhenotypes": ["Adult-onset foveomacular vitelliform dystrophy", "FOVEOMACULAR DYSTROPHY, ADULT-ONSET", "FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION", "Macular dystrophy, vitelliform, adult-onset"], "diseaseFromSource": "Adult-onset foveomacular vitelliform dystrophy", "diseaseFromSourceId": "C1842914", "diseaseFromSourceMappedId": "Orphanet_99000", "variantHgvsId": "NC_000006.12:g.42697752C>T"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000332126", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000112619", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_42722243_C_A", "variantRsId": "rs886061404", "cohortPhenotypes": ["Fundus albipunctatus", "Pigmentary retinal dystrophy"], "diseaseFromSource": "Pigmentary retinal dystrophy", "diseaseFromSourceId": "C0311338", "diseaseFromSourceMappedId": "MONDO_0009964", "variantHgvsId": "NC_000006.12:g.42722243C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000342781", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000064309", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "11_125958565_A_ATATATGTGTGTGTG", "variantRsId": "rs371911236", "cohortPhenotypes": ["ARHINENCEPHALY", "HOLOPROSENCEPHALY, FAMILIAL ALOBAR", "HPE, FAMILIAL", "Holoprosencephaly", "Holoprosencephaly sequence"], "diseaseFromSource": "Holoprosencephaly sequence", "diseaseFromSourceId": "C0079541", "diseaseFromSourceMappedId": "Orphanet_2162", "variantHgvsId": "NC_000011.10:g.125958566TA[2]TG[5]T[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000342781", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000064309", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "11_125958565_A_ATATATGTGTGTGTG", "variantRsId": "rs371911236", "cohortPhenotypes": ["ARHINENCEPHALY", "HOLOPROSENCEPHALY, FAMILIAL ALOBAR", "HPE, FAMILIAL", "Holoprosencephaly", "Holoprosencephaly sequence"], "diseaseFromSource": "Holoprosencephaly sequence", "diseaseFromSourceId": "C0079541", "diseaseFromSourceMappedId": "MONDO_0016296", "variantHgvsId": "NC_000011.10:g.125958566TA[2]TG[5]T[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV000077651", "releaseDate": "2013-12-23", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "13_32316408_C_T", "variantRsId": "rs398122721", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32316408C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV000077651", "releaseDate": "2013-12-23", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "13_32316408_C_T", "variantRsId": "rs398122721", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "MONDO_0012933", "variantHgvsId": "NC_000013.11:g.32316408C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000217688", "releaseDate": "2016-05-29", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "13_32398296_C_T", "variantRsId": "rs876658661", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000013.11:g.32398296C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "reviewed by expert panel", "studyId": "RCV000495697", "releaseDate": "2017-07-17", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "13_32394828_A_G", "variantRsId": "rs201172050", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32394828A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "reviewed by expert panel", "studyId": "RCV000495697", "releaseDate": "2017-07-17", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "13_32394828_A_G", "variantRsId": "rs201172050", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "MONDO_0012933", "variantHgvsId": "NC_000013.11:g.32394828A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting interpretations", "studyId": "RCV000574011", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_32340050_G_A", "variantRsId": "rs371189402", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000013.11:g.32340050G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000701650", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_32354926_C_G", "variantRsId": "rs431825349", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32354926C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain 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"variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_32339025_C_G", "variantRsId": "rs80358698", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32339025C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001084564", "releaseDate": "2020-05-04", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_32339025_C_G", "variantRsId": "rs80358698", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast 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"NC_000017.11:g.7674917T>A"} +{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000442928", "releaseDate": "2017-03-08", "targetFromSourceId": "ENSG00000109670", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_152326136_C_T", "variantRsId": "rs1057519896", "cohortPhenotypes": ["Malignant neoplasm of body of uterus"], "diseaseFromSource": "Malignant neoplasm of body of uterus", "diseaseFromSourceId": "C0153574", "diseaseFromSourceMappedId": "EFO_0003859", "variantHgvsId": "NC_000004.12:g.152326136C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000629277", "releaseDate": "2018-05-28", 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"eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-05-28", "targetFromSourceId": "ENSG00000198899", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Deficiency of mitochondrial respiratory chain complex4", "Mitochondrial complex IV deficiency", "Mitochondrial complex IV deficiency, nuclear type 1"], "diseaseFromSource": "Mitochondrial complex IV deficiency, nuclear type 1", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "EFO_0009135", "variantHgvsId": "NC_012920.1:m.7512T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", 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"SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Complex IV deficiency", "Deficiency of mitochondrial respiratory chain complex4", "Mitochondrial complex IV deficiency", "Mitochondrial complex IV deficiency, nuclear type 1"], "diseaseFromSource": "Mitochondrial complex IV deficiency, nuclear type 1", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "EFO_0009135", "variantHgvsId": "NC_012920.1:m.7512T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "releaseDate": "2022-05-28", "targetFromSourceId": "ENSG00000228253", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "MT_7512_T_C", "variantRsId": "rs199474817", "cohortPhenotypes": ["COX deficiency", "Complex 4 mitochondrial 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"diseaseFromSourceMappedId": "Orphanet_2457", "variantHgvsId": "NC_000001.11:g.40281518TAAAGT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000293484", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000084073", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "1_40281517_CTAAAGT_C", "variantRsId": "rs747563189", "cohortPhenotypes": ["Mandibuloacral dysostosis", "Mandibuloacral dysplasia"], "diseaseFromSource": "Mandibuloacral dysplasia", "diseaseFromSourceId": "C0432291", "diseaseFromSourceMappedId": "MONDO_0016584", "variantHgvsId": "NC_000001.11:g.40281518TAAAGT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["X-linked inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000505480", "releaseDate": "2017-09-19", "targetFromSourceId": "ENSG00000102174", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "X_22245412_A_T", "variantRsId": "rs1556201217", "cohortPhenotypes": ["Familial X-linked hypophosphatemic vitamin D refractory rickets", "HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS", "Hypophosphatemia, vitamin D-resistant rickets", "Hypophosphatemic Rickets, X-Linked Dominant", "Vitamin D-resistant rickets, X-linked"], "diseaseFromSource": "Familial X-linked hypophosphatemic vitamin D refractory rickets", "diseaseFromSourceId": "C0733682", "diseaseFromSourceMappedId": "MONDO_0000044", "variantHgvsId": "NC_000023.11:g.22245412A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002106665", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000018236", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "12_40910120_G_C", "variantRsId": "rs1944974270", "cohortPhenotypes": ["Compton-North congenital myopathy"], "diseaseFromSource": "Compton-North congenital myopathy", "diseaseFromSourceId": "C2675527", "diseaseFromSourceMappedId": "MONDO_0012929", "variantHgvsId": "NC_000012.12:g.40910120G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "literature": ["10736283", "9562578"], "studyId": "RCV000035487", "releaseDate": "2013-05-03", "targetFromSourceId": "ENSG00000134571", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_47337729_A_AC", "variantRsId": "rs397515963", "cohortPhenotypes": ["Familial hypertrophic cardiomyopathy 4", "Hypertrophic cardiomyopathy 4"], "diseaseFromSource": "Hypertrophic cardiomyopathy 4", "diseaseFromSourceId": "C1861862", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000011.10:g.47337730dup"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["9771712"], "studyId": "RCV000007018", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000043355", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["Holoprosencephaly 5"], "diseaseFromSource": "Holoprosencephaly 5", "diseaseFromSourceId": "C1864827", "diseaseFromSourceMappedId": "MONDO_0016296", "variantHgvsId": "LRG_1157:g.8694GCN[45]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000029220", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000122335", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "6_158119166_GCTGA_G", "variantRsId": "rs772296795", "cohortPhenotypes": ["3-METHYLGLUTACONIC ACIDURIA WITH DYSTONIA-DEAFNESS, HEPATOPATHY, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME", "3-METHYLGLUTACONIC ACIDURIA, TYPE VI", "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome", "MEGDEL syndrome"], "diseaseFromSource": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome", "diseaseFromSourceId": "C3553597", "diseaseFromSourceMappedId": "Orphanet_352328", "variantHgvsId": "NC_000006.12:g.158119169_158119172del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV000031574", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "13_32326553_GAT_G", "variantRsId": "rs80359533", "cohortPhenotypes": ["BREAST CANCER, 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"releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "13_32326553_GAT_G", "variantRsId": "rs80359533", "cohortPhenotypes": ["Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32326554AT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV000031574", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "13_32326553_GAT_G", "variantRsId": "rs80359533", "cohortPhenotypes": ["Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 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RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM", "Spastic paraplegia 11", "Spastic paraplegia 11, autosomal recessive", "Spastic paraplegia, mental retardation and thin corpus callosum"], "diseaseFromSource": "Hereditary spastic paraplegia 11", "diseaseFromSourceId": "C1858479", "diseaseFromSourceMappedId": "MONDO_0011445", "variantHgvsId": "NC_000015.10:g.44628785G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000034185", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000104133", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "15_44628785_G_A", "variantRsId": "rs199588440", "cohortPhenotypes": ["Autosomal recessive hereditary spastic paraplegia, mental impairment, and thin corpus callosum", "Hereditary spastic paraplegia 11", "Hereditary spastic paraplegia mental impairment 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"cohortPhenotypes": ["Tuberous sclerosis", "Tuberous sclerosis syndrome"], "diseaseFromSource": "Tuberous sclerosis syndrome", "diseaseFromSourceId": "C0041341", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2070474C>G"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000044777", "releaseDate": "2013-07-03", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "13_32340219_C_A", "variantRsId": "rs80358815", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32340219C>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000044777", "releaseDate": "2013-07-03", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "13_32340219_C_A", "variantRsId": "rs80358815", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "MONDO_0003582", "variantHgvsId": "NC_000013.11:g.32340219C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000058022", "releaseDate": "2013-10-22", "targetFromSourceId": "ENSG00000055118", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_150951517_C_T", "variantRsId": "rs199472953", "cohortPhenotypes": ["Congenital long QT syndrome", "Familial long QT syndrome", "Romano-Ward syndrome", "Ventricular fibrillation with prolonged QT interval"], "diseaseFromSource": "Congenital long QT syndrome", "diseaseFromSourceId": "C1141890", "diseaseFromSourceMappedId": "MONDO_0019171", "variantHgvsId": "NC_000007.14:g.150951517C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000058022", "releaseDate": "2013-10-22", "targetFromSourceId": "ENSG00000055118", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_150951517_C_T", "variantRsId": "rs199472953", "cohortPhenotypes": ["Congenital long QT syndrome", "Familial long QT syndrome", "Romano-Ward syndrome", "Ventricular fibrillation with prolonged QT interval"], "diseaseFromSource": "Congenital long QT syndrome", "diseaseFromSourceId": "C1141890", "diseaseFromSourceMappedId": "Orphanet_101016", "variantHgvsId": "NC_000007.14:g.150951517C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "reviewed by expert panel", "studyId": "RCV000076815", "releaseDate": "2013-12-19", "targetFromSourceId": "ENSG00000122512", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_5987233_G_A", "variantRsId": "rs74902811", "cohortPhenotypes": ["Lynch syndrome"], "diseaseFromSource": "Lynch syndrome", "diseaseFromSourceId": "C4552100", "diseaseFromSourceMappedId": "MONDO_0005835", "variantHgvsId": "NC_000007.14:g.5987233G>A"} 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"releaseDate": "2013-12-23", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "13_32362694_G_A", "variantRsId": "rs81002873", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "MONDO_0012933", "variantHgvsId": "NC_000013.11:g.32362694G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV000077419", "releaseDate": "2013-12-23", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "13_32362694_G_A", "variantRsId": "rs81002873", "cohortPhenotypes": ["BREAST CANCER, 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"studyId": "RCV000207049", "releaseDate": "2016-02-09", "targetFromSourceId": "ENSG00000085382", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_104771384_G_GAATACCTAAAAATACCTAAA", "cohortPhenotypes": ["Spastic paraplegia and psychomotor retardation with or without seizures", "Spastic paraplegia-severe developmental delay-epilepsy syndrome"], "diseaseFromSource": "Spastic paraplegia-severe developmental delay-epilepsy syndrome", "diseaseFromSourceId": "C4225215", "diseaseFromSourceMappedId": "MONDO_0014764", "variantHgvsId": "NC_000006.12:g.104771387TACCTAAAAA[3]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000211653", "releaseDate": "2016-05-22", "targetFromSourceId": "ENSG00000130164", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_11113287_C_A", "variantRsId": "rs875989918", "cohortPhenotypes": ["Fredrickson type IIa hyperlipoproteinemia", "HYPER-LOW-DENSITY-LIPOPROTEINEMIA", "HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF", "HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL", "Hyper-beta-lipoproteinemia", "Hypercholesterolemia, familial, 1", "Hyperlipoproteinemia Type II", "Hyperlipoproteinemia Type IIa", "Hyperlipoproteinemia type 2", "LDL RECEPTOR DISORDER"], "diseaseFromSource": "Hypercholesterolemia, familial, 1", "diseaseFromSourceId": "C0745103", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000019.10:g.11113287C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000217688", "releaseDate": "2016-05-29", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "13_32398296_C_T", "variantRsId": "rs876658661", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000013.11:g.32398296C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000219047", "releaseDate": "2016-05-29", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "2_214792384_G_A", "variantRsId": "rs876658571", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214792384G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000221614", "releaseDate": "2016-05-29", "targetFromSourceId": "ENSG00000183765", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "22_28711924_A_G", "variantRsId": "rs876659828", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000022.11:g.28711924A>G"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000227822", "releaseDate": "2016-07-01", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61780946_T_C", "variantRsId": "rs577768294", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000017.11:g.61780946T>C"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000227822", "releaseDate": "2016-07-01", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61780946_T_C", "variantRsId": "rs577768294", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Fanconi anemia complementation group J", "diseaseFromSourceId": "C1836860", "diseaseFromSourceMappedId": "MONDO_0012187", "variantHgvsId": "NC_000017.11:g.61780946T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000232400", "releaseDate": "2016-07-01", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_112843065_A_G", "variantRsId": "rs375674083", "cohortPhenotypes": ["APC-Associated Polyposis Conditions", "FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED", "Familial adenomatous polyposis 1", "POLYPOSIS, ADENOMATOUS INTESTINAL"], "diseaseFromSource": "Familial adenomatous polyposis 1", "diseaseFromSourceId": "C2713442", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112843065A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000232416", "releaseDate": "2016-07-01", "targetFromSourceId": "ENSG00000127616", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_11060110_G_A", "variantRsId": "rs372319442", "cohortPhenotypes": ["Rhabdoid tumor predisposition syndrome 2"], "diseaseFromSource": "Rhabdoid tumor predisposition syndrome 2", "diseaseFromSourceId": "C2750074", "diseaseFromSourceMappedId": "MONDO_0016473", "variantHgvsId": "NC_000019.10:g.11060110G>A"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000233397", "releaseDate": "2016-07-01", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_108329071_A_G", "variantRsId": "rs750569023", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108329071A>G"} {"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000233397", "releaseDate": "2016-07-01", "targetFromSourceId": "ENSG00000166323", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "11_108329071_A_G", "variantRsId": "rs750569023", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108329071A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV000257799", "releaseDate": "2016-10-22", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "13_32333146_TTTAA_T", "variantRsId": "rs886040379", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32333149_32333152del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV000257799", "releaseDate": "2016-10-22", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "13_32333146_TTTAA_T", "variantRsId": "rs886040379", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "MONDO_0012933", "variantHgvsId": "NC_000013.11:g.32333149_32333152del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting interpretations", "studyId": "RCV000258385", "releaseDate": "2016-11-06", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "13_32326153_A_G", "variantRsId": "rs81002795", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32326153A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting interpretations", "studyId": "RCV000258385", "releaseDate": "2016-11-06", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "13_32326153_A_G", "variantRsId": "rs81002795", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "MONDO_0012933", "variantHgvsId": "NC_000013.11:g.32326153A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000279393", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178633323_C_G", "variantRsId": "rs727505144", "cohortPhenotypes": ["Early-onset myopathy with fatal cardiomyopathy", "Salih Myopathy"], "diseaseFromSource": "Early-onset myopathy with fatal cardiomyopathy", "diseaseFromSourceId": "C2673677", "diseaseFromSourceMappedId": "MONDO_0012714", "variantHgvsId": "NC_000002.12:g.178633323C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000294258", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000235718", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "11_119346388_A_ATAC", "variantRsId": "rs143351376", "cohortPhenotypes": ["Retinal degeneration"], "diseaseFromSource": "Retinal degeneration", "diseaseFromSourceId": "C0035304", "diseaseFromSourceMappedId": "MONDO_0004580", "variantHgvsId": "NC_000011.10:g.119346390_119346392dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339062", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000062038", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "16_68644701_T_C", "variantRsId": "rs150247850", "cohortPhenotypes": ["EEM syndrome", "Ectodermal dysplasia, ectrodactyly, and macular dystrophy"], "diseaseFromSource": "EEM syndrome", "diseaseFromSourceId": "C1857041", "diseaseFromSourceMappedId": "MONDO_0009155", "variantHgvsId": "NC_000016.10:g.68644701T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000341229", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178568853_T_C", "variantRsId": "rs3813246", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "MONDO_0012127", "variantHgvsId": "NC_000002.12:g.178568853T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000341229", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178568853_T_C", "variantRsId": "rs3813246", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.178568853T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000341792", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000141255", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "17_3513833_C_T", "variantRsId": "rs146188912", "cohortPhenotypes": ["Isolated focal non-epidermolytic palmoplantar keratoderma", "Palmoplantar keratoderma, nonepidermolytic, focal 2"], "diseaseFromSource": "Isolated focal non-epidermolytic palmoplantar keratoderma", "diseaseFromSourceId": "C4225339", "diseaseFromSourceMappedId": "Orphanet_2337", "variantHgvsId": "NC_000017.11:g.3513833C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000341792", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000167723", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_3513833_C_T", "variantRsId": "rs146188912", "cohortPhenotypes": ["Isolated focal non-epidermolytic palmoplantar keratoderma", "Palmoplantar keratoderma, nonepidermolytic, focal 2"], "diseaseFromSource": "Isolated focal non-epidermolytic palmoplantar keratoderma", "diseaseFromSourceId": "C4225339", "diseaseFromSourceMappedId": "Orphanet_2337", "variantHgvsId": "NC_000017.11:g.3513833C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000357267", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_48487155_C_T", "variantRsId": "rs137854475", "cohortPhenotypes": ["Acromicric dysplasia", "Acromicric skeletal dysplasia"], "diseaseFromSource": "Acromicric dysplasia", "diseaseFromSourceId": "C0265287", "diseaseFromSourceMappedId": "MONDO_0007055", "variantHgvsId": "NC_000015.10:g.48487155C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign", "likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000363966", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000107736", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_71812008_T_C", "variantRsId": "rs45583140", "cohortPhenotypes": ["Dystrophia retinae pigmentosa-dysostosis syndrome", "Graefe-Usher syndrome", "Hallgren syndrome", "RETINITIS PIGMENTOSA 21", "RETINITIS PIGMENTOSA 8", "RP21, formerly", "RP8, formerly", "Retinitis pigmentosa 21, formerly", "Retinitis pigmentosa 8, formerly", "Retinitis pigmentosa-deafness syndrome"], "diseaseFromSource": "Retinitis pigmentosa-deafness syndrome", "diseaseFromSourceId": "CN033130", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000010.11:g.71812008T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000396653", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000079805", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "19_10759823_C_A", "variantRsId": "rs147026993", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B", "CMT DI1", "Charcot-Marie-Tooth disease dominant intermediate 1", "Charcot-Marie-Tooth disease dominant intermediate B", "Charcot-Marie-Tooth disease dominant intermediate I", "DNM2-related intermediate Charcot-Marie-Tooth neuropathy"], "diseaseFromSource": "Charcot-Marie-Tooth disease dominant intermediate B", "diseaseFromSourceId": "C1847902", "diseaseFromSourceMappedId": "MONDO_0011674", "variantHgvsId": "NC_000019.10:g.10759823C>A"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000410953", "releaseDate": "2017-01-07", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_112815536_G_C", "variantRsId": "rs760059672", "cohortPhenotypes": ["APC-Associated Polyposis Conditions", "FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED", "Familial adenomatous polyposis 1", "POLYPOSIS, ADENOMATOUS INTESTINAL"], "diseaseFromSource": "Familial adenomatous polyposis 1", "diseaseFromSourceId": "C2713442", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112815536G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000414578", "releaseDate": "2017-01-09", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_32332442_A_C", "variantRsId": "rs11571640", "cohortPhenotypes": ["Breast Neoplasms", "Breast neoplasm", "Breast tumor", "Neoplasm of breast", "Neoplasm of the breast"], "diseaseFromSource": "Breast neoplasm", "diseaseFromSourceId": "C1458155", "diseaseFromSourceMappedId": "EFO_0000305", "variantHgvsId": "NC_000013.11:g.32332442A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000414578", "releaseDate": "2017-01-09", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_32332442_A_C", "variantRsId": "rs11571640", "cohortPhenotypes": ["Breast Neoplasms", "Breast neoplasm", "Breast tumor", "Neoplasm of breast", "Neoplasm of the breast"], "diseaseFromSource": "Breast neoplasm", "diseaseFromSourceId": "C1458155", "diseaseFromSourceMappedId": "EFO_0003869", "variantHgvsId": "NC_000013.11:g.32332442A>C"} -{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000419796", "releaseDate": "2017-03-08", "targetFromSourceId": "ENSG00000068078", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_1804372_A_G", "variantRsId": "rs121913485", "cohortPhenotypes": ["Carcinoma"], "diseaseFromSource": "Carcinoma", "diseaseFromSourceId": "C0007097", "diseaseFromSourceMappedId": "EFO_0000313", "variantHgvsId": "NC_000004.12:g.1804372A>G"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000445373", "releaseDate": "2017-03-14", "targetFromSourceId": "ENSG00000109501", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_6302247_C_T", "variantRsId": "rs35932623", "cohortPhenotypes": ["Monogenic diabetes"], "diseaseFromSource": "Monogenic diabetes", "diseaseFromSourceId": "C3888631", "diseaseFromSourceMappedId": "EFO_1001511", "variantHgvsId": "NC_000004.12:g.6302247C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000457965", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000127616", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_11060124_G_A", "variantRsId": "rs370590601", "cohortPhenotypes": ["Rhabdoid tumor predisposition syndrome 2"], "diseaseFromSource": "Rhabdoid tumor predisposition syndrome 2", "diseaseFromSourceId": "C2750074", "diseaseFromSourceMappedId": "MONDO_0016473", "variantHgvsId": "NC_000019.10:g.11060124G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000462260", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "13_32333266_T_C", "variantRsId": "rs11571642", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000013.11:g.32333266T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000472629", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000148400", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_136505739_G_A", "variantRsId": "rs367710569", "cohortPhenotypes": ["Adams-Oliver syndrome 5"], "diseaseFromSource": "Adams-Oliver syndrome 5", "diseaseFromSourceId": "C4014970", "diseaseFromSourceMappedId": "MONDO_0007034", "variantHgvsId": "NC_000009.12:g.136505739G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000496545", "releaseDate": "2017-08-07", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "13_32338907_GA_G", "variantRsId": "rs80359458", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32338909del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000496545", "releaseDate": "2017-08-07", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "13_32338907_GA_G", "variantRsId": "rs80359458", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "MONDO_0003582", "variantHgvsId": "NC_000013.11:g.32338909del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000515435", "releaseDate": "2017-11-11", "targetFromSourceId": "ENSG00000165671", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_177294944_C_T", "variantRsId": "rs373932824", "cohortPhenotypes": ["Beckwith-Wiedemann syndrome", "CHROMOSOME 5q35 DELETION SYNDROME", "Cerebral gigantism", "Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development", "EMG Syndrome", "Exomphalos macroglossia gigantism syndrome", "Sotos syndrome 1"], "diseaseFromSource": "Beckwith-Wiedemann syndrome", "diseaseFromSourceId": "C0004903", "diseaseFromSourceMappedId": "MONDO_0007534", "variantHgvsId": "NC_000005.10:g.177294944C>T"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000515435", "releaseDate": "2017-11-11", "targetFromSourceId": "ENSG00000165671", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_177294944_C_T", "variantRsId": "rs373932824", "cohortPhenotypes": ["Beckwith-Wiedemann syndrome", "CHROMOSOME 5q35 DELETION SYNDROME", "Cerebral gigantism", "Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development", "EMG Syndrome", "Exomphalos macroglossia gigantism syndrome", "Sotos syndrome 1"], "diseaseFromSource": "Sotos syndrome 1", "diseaseFromSourceId": "C4551477", "diseaseFromSourceMappedId": "MONDO_0019349", "variantHgvsId": "NC_000005.10:g.177294944C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000530813", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_2075839_G_A", "variantRsId": "rs752865665", "cohortPhenotypes": ["Tuberous sclerosis 2"], "diseaseFromSource": "Tuberous sclerosis 2", "diseaseFromSourceId": "C1860707", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2075839G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001349064", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000198947", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_32438387_G_C", "variantRsId": "rs1060502642", "cohortPhenotypes": ["Duchenne muscular dystrophy", "Muscular dystrophy, pseudohypertrophic progressive, Duchenne type"], "diseaseFromSource": "Duchenne muscular dystrophy", "diseaseFromSourceId": "C0013264", "diseaseFromSourceMappedId": "MONDO_0010679", "variantHgvsId": "NC_000023.11:g.32438387G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001363924", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000141527", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_80195553_T_G", "variantRsId": "rs2144317520", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2"], "diseaseFromSource": "Pityriasis rubra pilaris", "diseaseFromSourceId": "C0032027", "diseaseFromSourceMappedId": "MONDO_0008251", "variantHgvsId": "NC_000017.11:g.80195553T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001363924", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000141527", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_80195553_T_G", "variantRsId": "rs2144317520", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2"], "diseaseFromSource": "Psoriasis 2", "diseaseFromSourceId": "C1864497", "diseaseFromSourceMappedId": "EFO_0000676", "variantHgvsId": "NC_000017.11:g.80195553T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377288", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000079739", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "1_63651667_A_G", "variantRsId": "rs1649810314", "cohortPhenotypes": ["CDG It", "Congenital disorder of glycosylation type 1t", "GSD XIV", "Glycogen storage disease XIV", "PGM1 DEFICIENCY", "PGM1-congenital disorder of glycosylation", "PHOSPHOGLUCOMUTASE 1 DEFICIENCY"], "diseaseFromSource": "PGM1-congenital disorder of glycosylation", "diseaseFromSourceId": "C2752015", "diseaseFromSourceMappedId": "Orphanet_137", "variantHgvsId": "NC_000001.11:g.63651667A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001378744", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000277027", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "9_35658026_C_CAGCTTCACAGAGTAGCTTCACAGAGT", "variantRsId": "rs751921616", "cohortPhenotypes": ["Anauxetic dysplasia", "SPONDYLOMETAEPIPHYSEAL DYSPLASIA, ANAUXETIC TYPE"], "diseaseFromSource": "Anauxetic dysplasia", "diseaseFromSourceId": "C1846796", "diseaseFromSourceMappedId": "MONDO_0011773", "variantHgvsId": "NC_000009.12:g.35658029CTTCACAGAGTAG[3]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001381841", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "11_108246993_A_ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC", "variantRsId": "rs2079879604", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108246994_108246997T[43]NNNATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001395954", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000146648", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "7_55174034_G_C", "variantRsId": "rs55959834", "cohortPhenotypes": ["EGFR-related lung cancer"], "diseaseFromSource": "EGFR-related lung cancer", "diseaseFromSourceId": "CN130014", "variantHgvsId": "NC_000007.14:g.55174034G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001404566", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000198947", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_31679432_T_A", "variantRsId": "rs2148732803", "cohortPhenotypes": ["Duchenne muscular dystrophy", "Muscular dystrophy, pseudohypertrophic progressive, Duchenne type"], "diseaseFromSource": "Duchenne muscular dystrophy", "diseaseFromSourceId": "C0013264", "diseaseFromSourceMappedId": "MONDO_0010679", "variantHgvsId": "NC_000023.11:g.31679432T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001405188", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000138375", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_216450935_G_A", "variantRsId": "rs369105193", "cohortPhenotypes": ["Schimke immuno-osseous dysplasia", "Schimke immunoosseous dysplasia", "Schimke syndrome", "Spondyloepiphyseal dysplasia nephrotic syndrome"], "diseaseFromSource": "Schimke immuno-osseous dysplasia", "diseaseFromSourceId": "C0877024", "diseaseFromSourceMappedId": "MONDO_0009458", "variantHgvsId": "NC_000002.12:g.216450935G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001405188", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000138375", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_216450935_G_A", "variantRsId": "rs369105193", "cohortPhenotypes": ["Schimke immuno-osseous dysplasia", "Schimke immunoosseous dysplasia", "Schimke syndrome", "Spondyloepiphyseal dysplasia nephrotic syndrome"], "diseaseFromSource": "Schimke immuno-osseous dysplasia", "diseaseFromSourceId": "C0877024", "diseaseFromSourceMappedId": "Orphanet_1830", "variantHgvsId": "NC_000002.12:g.216450935G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001413739", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000035403", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "10_74114397_G_A", "variantRsId": "rs371631031", "cohortPhenotypes": ["Dilated cardiomyopathy 1W"], "diseaseFromSource": "Dilated cardiomyopathy 1W", "diseaseFromSourceId": "C1969639", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000010.11:g.74114397G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001418517", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000108556", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_4899476_G_A", "variantRsId": "rs778130828", "cohortPhenotypes": ["CONGENITAL MYASTHENIC SYNDROME TYPE Ia1", "Congenital myasthenic syndrome 4A", "MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, AUTOSOMAL RECESSIVE", "Myasthenic syndrome, congenital, 4a, slow-channel"], "diseaseFromSource": "Congenital myasthenic syndrome 4A", "diseaseFromSourceId": "C4225413", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000017.11:g.4899476G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001418517", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000205710", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "17_4899476_G_A", "variantRsId": "rs778130828", "cohortPhenotypes": ["CONGENITAL MYASTHENIC SYNDROME TYPE Ia1", "Congenital myasthenic syndrome 4A", "MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, AUTOSOMAL RECESSIVE", "Myasthenic syndrome, congenital, 4a, slow-channel"], "diseaseFromSource": "Congenital myasthenic syndrome 4A", "diseaseFromSourceId": "C4225413", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000017.11:g.4899476G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001427085", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000196569", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_129288036_A_G", "variantRsId": "rs2114420959", "cohortPhenotypes": ["LAMA2-related muscular dystrophy", "Laminin alpha 2-related dystrophy"], "diseaseFromSource": "LAMA2-related muscular dystrophy", "diseaseFromSourceId": "C5679788", "diseaseFromSourceMappedId": "MONDO_0100228", "variantHgvsId": "NC_000006.12:g.129288036A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001427085", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000196569", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_129288036_A_G", "variantRsId": "rs2114420959", "cohortPhenotypes": ["LAMA2-related muscular dystrophy", "Laminin alpha 2-related dystrophy"], "diseaseFromSource": "LAMA2-related muscular dystrophy", "diseaseFromSourceId": "C5679788", "diseaseFromSourceMappedId": "EFO_0009138", "variantHgvsId": "NC_000006.12:g.129288036A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001446314", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000110090", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_68799323_T_C", "variantRsId": "rs772625735", "cohortPhenotypes": ["CPT deficiency, hepatic, type IA", "CPT1A deficiency", "Carnitine Palmitoyltransferase IA Deficiency", "Carnitine palmitoyl transferase 1 deficiency", "Carnitine palmitoyl transferase 1A deficiency", "Carnitine palmitoyltransferase 1A deficiency", "Carnitine palmitoyltransferase type I deficiency", "Hepatic CPT1", "Hepatic carnitine palmitoyltransferase 1 deficiency", "L-CPT 1 deficiency"], "diseaseFromSource": "Carnitine palmitoyl transferase 1A deficiency", "diseaseFromSourceId": "C1829703", "diseaseFromSourceMappedId": "Orphanet_156", "variantHgvsId": "NC_000011.10:g.68799323T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001446314", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000110090", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_68799323_T_C", "variantRsId": "rs772625735", "cohortPhenotypes": ["CPT deficiency, hepatic, type IA", "CPT1A deficiency", "Carnitine Palmitoyltransferase IA Deficiency", "Carnitine palmitoyl transferase 1 deficiency", "Carnitine palmitoyl transferase 1A deficiency", "Carnitine palmitoyltransferase 1A deficiency", "Carnitine palmitoyltransferase type I deficiency", "Hepatic CPT1", "Hepatic carnitine palmitoyltransferase 1 deficiency", "L-CPT 1 deficiency"], "diseaseFromSource": "Carnitine palmitoyl transferase 1A deficiency", "diseaseFromSourceId": "C1829703", "diseaseFromSourceMappedId": "MONDO_0009705", "variantHgvsId": "NC_000011.10:g.68799323T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001454495", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000129757", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "11_2884860_G_GGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCC", "variantRsId": "rs759134767", "cohortPhenotypes": ["Beckwith-Wiedemann syndrome", "EMG Syndrome", "Exomphalos macroglossia gigantism syndrome"], "diseaseFromSource": "Beckwith-Wiedemann syndrome", "diseaseFromSourceId": "C0004903", "diseaseFromSourceMappedId": "MONDO_0007534", "variantHgvsId": "NC_000011.10:g.2884866CGGGGC[10]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001460318", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000197728", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_56042502_C_T", "variantRsId": "rs773982358", "cohortPhenotypes": ["Diamond-Blackfan anemia 10"], "diseaseFromSource": "Diamond-Blackfan anemia 10", "diseaseFromSourceId": "C2750080", "diseaseFromSourceMappedId": "Orphanet_124", "variantHgvsId": "NC_000012.12:g.56042502C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001464082", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000106976", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_128234044_G_A", "variantRsId": "rs968662562", "cohortPhenotypes": ["DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31A", "Developmental and epileptic encephalopathy, 31", "Epileptic encephalopathy, early infantile, 31"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 31", "diseaseFromSourceId": "C4225357", "diseaseFromSourceMappedId": "Orphanet_2382", "variantHgvsId": "NC_000009.12:g.128234044G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001464352", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000203867", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_110781819_G_A", "variantRsId": "rs530925237", "cohortPhenotypes": ["Dilated cardiomyopathy 1DD"], "diseaseFromSource": "Dilated cardiomyopathy 1DD", "diseaseFromSourceId": "C2750995", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000010.11:g.110781819G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001472522", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178782223_G_A", "variantRsId": "rs2154349644", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Dilated cardiomyopathy 1G", "diseaseFromSourceId": "C1858763", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000002.12:g.178782223G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001472522", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178782223_G_A", "variantRsId": "rs2154349644", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "MONDO_0012127", "variantHgvsId": "NC_000002.12:g.178782223G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001472522", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178782223_G_A", "variantRsId": "rs2154349644", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.178782223G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001481529", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000169710", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_82088381_C_A", "variantRsId": "rs764261432", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000017.11:g.82088381C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001494713", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000204406", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_148485878_G_A", "variantRsId": "rs572893308", "cohortPhenotypes": ["INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1", "Intellectual disability, autosomal dominant 1"], "diseaseFromSource": "Intellectual disability, autosomal dominant 1", "diseaseFromSourceId": "C1969562", "variantHgvsId": "NC_000002.12:g.148485878G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001730858", "releaseDate": "2021-10-21", "targetFromSourceId": "ENSG00000198920", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_6628328_A_G", "variantRsId": "rs2072149", "cohortPhenotypes": ["Joubert syndrome 38"], "diseaseFromSource": "Joubert syndrome 38", "diseaseFromSourceId": "C5561958", "variantHgvsId": "NC_000017.11:g.6628328A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001730858", "releaseDate": "2021-10-21", "targetFromSourceId": "ENSG00000282936", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_6628328_A_G", "variantRsId": "rs2072149", "cohortPhenotypes": ["Joubert syndrome 38"], "diseaseFromSource": "Joubert syndrome 38", "diseaseFromSourceId": "C5561958", "variantHgvsId": "NC_000017.11:g.6628328A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001829854", "releaseDate": "2022-02-13", "targetFromSourceId": "ENSG00000081052", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "2_227094124_C_T", "variantRsId": "rs1553676230", "cohortPhenotypes": ["Alport syndrome", "Congenital hereditary hematuria", "Hemorrhagic familial nephritis", "Hemorrhagic hereditary nephritis"], "diseaseFromSource": "Alport syndrome", "diseaseFromSourceId": "C1567741", "diseaseFromSourceMappedId": "MONDO_0018965", "variantHgvsId": "NC_000002.12:g.227094124C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001858687", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000135069", "variantFunctionalConsequenceId": "SO_0001787", "variantId": "9_78300667_G_A", "variantRsId": "rs372232840", "cohortPhenotypes": ["Neu-Laxova syndrome 2"], "diseaseFromSource": "Neu-Laxova syndrome 2", "diseaseFromSourceId": "C4015019", "diseaseFromSourceMappedId": "MONDO_0000179", "variantHgvsId": "NC_000009.12:g.78300667G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001908759", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000164751", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "8_76983607_AT_A", "variantRsId": "rs2132043667", "cohortPhenotypes": ["Peroxisome biogenesis disorder 5A (Zellweger)"], "diseaseFromSource": "Peroxisome biogenesis disorder 5A (Zellweger)", "diseaseFromSourceId": "C3553940", "diseaseFromSourceMappedId": "Orphanet_912", "variantHgvsId": "NC_000008.11:g.76983608del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001925894", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000163913", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_129476350_C_G", "variantRsId": "rs1268071941", "cohortPhenotypes": ["Cranioectodermal dysplasia 1", "LEVIN SYNDROME I", "Levin syndrome 1"], "diseaseFromSource": "Cranioectodermal dysplasia 1", "diseaseFromSourceId": "C0432235", "diseaseFromSourceMappedId": "MONDO_0009032", "variantHgvsId": "NC_000003.12:g.129476350C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001933777", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000102908", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "16_69691095_T_TG", "variantRsId": "rs2037528426", "cohortPhenotypes": ["Immunodeficiency"], "diseaseFromSource": "Immunodeficiency", "diseaseFromSourceId": "C0021051", "diseaseFromSourceMappedId": "MONDO_0015823", "variantHgvsId": "NC_000016.10:g.69691096dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001951015", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000160224", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "21_44293126_A_ACTCCTCGGCCCTGCACCCCCTT", "variantRsId": "rs2146383561", "cohortPhenotypes": ["APS 1", "APS I", "AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA", "Autoimmune polyendocrine syndrome type 1", "Autoimmune polyendocrinopathy syndrome, type I", "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)", "Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis", "PGA 1", "PGA I", "Polyglandular autoimmune syndrome, type 1", "Whitaker syndrome"], "diseaseFromSource": "Polyglandular autoimmune syndrome, type 1", "diseaseFromSourceId": "C0085859", "diseaseFromSourceMappedId": "Orphanet_3453", "variantHgvsId": "NC_000021.9:g.44293127_44293147CTC[2]GGCCCTGCACCCCCTTCTCCTCGGCCCTGCACCCCCT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001957691", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000130529", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_49182639_G_A", "variantRsId": "rs143555485", "cohortPhenotypes": ["Progressive familial heart block type 1B", "Progressive familial heart block type IB"], "diseaseFromSource": "Progressive familial heart block type IB", "diseaseFromSourceId": "C1970298", "diseaseFromSourceMappedId": "Orphanet_871", "variantHgvsId": "NC_000019.10:g.49182639G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001968168", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000143669", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_235808563_A_C", "cohortPhenotypes": ["Chediak-Higashi Syndrome", "Ch\u00e9diak-Higashi syndrome"], "diseaseFromSource": "Ch\u00e9diak-Higashi syndrome", "diseaseFromSourceId": "C0007965", "diseaseFromSourceMappedId": "Orphanet_167", "variantHgvsId": "NC_000001.11:g.235808563A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001970992", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000131323", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_102897321_C_A", "variantRsId": "rs2139974618", "cohortPhenotypes": ["Herpes simplex encephalitis, susceptibility to, 3"], "diseaseFromSource": "Herpes simplex encephalitis, susceptibility to, 3", "diseaseFromSourceId": "C3553868", "diseaseFromSourceMappedId": "MONDO_0013920", "variantHgvsId": "NC_000014.9:g.102897321C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001970992", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000131323", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_102897321_C_A", "variantRsId": "rs2139974618", "cohortPhenotypes": ["Herpes simplex encephalitis, susceptibility to, 3"], "diseaseFromSource": "Herpes simplex encephalitis, susceptibility to, 3", "diseaseFromSourceId": "C3553868", "diseaseFromSourceMappedId": "Orphanet_1930", "variantHgvsId": "NC_000014.9:g.102897321C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "variantRsId": "rs2152610983", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Hereditary sensory and autonomic neuropathy type 6", "diseaseFromSourceId": "C3539003", "diseaseFromSourceMappedId": "MONDO_0013839", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "variantRsId": "rs2152610983", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Hereditary sensory and autonomic neuropathy type 6", "diseaseFromSourceId": "C3539003", "diseaseFromSourceMappedId": "Orphanet_314381", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "variantRsId": "rs2152610983", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "diseaseFromSourceId": "C3809470", "diseaseFromSourceMappedId": "MONDO_0014180", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "variantRsId": "rs2152610983", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "diseaseFromSourceId": "C3809470", "diseaseFromSourceMappedId": "Orphanet_304", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002010146", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000165731", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_43102592_G_C", "variantRsId": "rs2132684107", "cohortPhenotypes": ["Multiple endocrine neoplasia, type 2"], "diseaseFromSource": "Multiple endocrine neoplasia, type 2", "diseaseFromSourceId": "C4048306", "diseaseFromSourceMappedId": "MONDO_0019003", "variantHgvsId": "NC_000010.11:g.43102592G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002036376", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000118194", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_201363312_C_A", "variantRsId": "rs1558224822", "cohortPhenotypes": ["Cardiomyopathy, familial restrictive, 3", "Dilated cardiomyopathy 1D", "Familial hypertrophic cardiomyopathy 2", "Hypertrophic cardiomyopathy 2", "Left ventricular noncompaction 6", "TNNT2-Related Familial Hypertrophic Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy, familial restrictive, 3", "diseaseFromSourceId": "C2676271", "variantHgvsId": "NC_000001.11:g.201363312C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002036376", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000118194", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_201363312_C_A", "variantRsId": "rs1558224822", "cohortPhenotypes": ["Cardiomyopathy, familial restrictive, 3", "Dilated cardiomyopathy 1D", "Familial hypertrophic cardiomyopathy 2", "Hypertrophic cardiomyopathy 2", "Left ventricular noncompaction 6", "TNNT2-Related Familial Hypertrophic Cardiomyopathy"], "diseaseFromSource": "Hypertrophic cardiomyopathy 2", "diseaseFromSourceId": "C1861864", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000001.11:g.201363312C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002036376", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000118194", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_201363312_C_A", "variantRsId": "rs1558224822", "cohortPhenotypes": ["Cardiomyopathy, familial restrictive, 3", "Dilated cardiomyopathy 1D", "Familial hypertrophic cardiomyopathy 2", "Hypertrophic cardiomyopathy 2", "Left ventricular noncompaction 6", "TNNT2-Related Familial Hypertrophic Cardiomyopathy"], "diseaseFromSource": "Dilated cardiomyopathy 1D", "diseaseFromSourceId": "C1832243", "diseaseFromSourceMappedId": "Orphanet_54260", "variantHgvsId": "NC_000001.11:g.201363312C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002037311", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000146648", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_55174749_G_T", "variantRsId": "rs2128954625", "cohortPhenotypes": ["EGFR-related lung cancer"], "diseaseFromSource": "EGFR-related lung cancer", "diseaseFromSourceId": "CN130014", "variantHgvsId": "NC_000007.14:g.55174749G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002037939", "releaseDate": "2022-03-28", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "17_31326182_T_TAGAAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31326183_31326188AGA[2]CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAGA[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002070310", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "14_23422330_T_TAG", "variantRsId": "rs780476751", "cohortPhenotypes": ["HYPERTROPHIC MYOCARDIOPATHY", "Hypertrophic cardiomyopathy"], "diseaseFromSource": "Hypertrophic cardiomyopathy", "diseaseFromSourceId": "C0007194", "diseaseFromSourceMappedId": "EFO_0000538", "variantHgvsId": "NC_000014.9:g.23422332GA[4]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002077695", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000188158", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_17376015_A_G", "variantRsId": "rs1026332275", "cohortPhenotypes": ["Cataract X-linked with Hutchinsonian teeth", "Cataract dental syndrome", "Mesiodens cataract syndrome", "Nance-Horan syndrome"], "diseaseFromSource": "Nance-Horan syndrome", "diseaseFromSourceId": "C0796085", "diseaseFromSourceMappedId": "MONDO_0010545", "variantHgvsId": "NC_000023.11:g.17376015A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002083564", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_1602561_T_G", "variantRsId": "rs2142042835", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "Orphanet_140969", "variantHgvsId": "NC_000016.10:g.1602561T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002083564", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_1602561_T_G", "variantRsId": "rs2142042835", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "MONDO_0009964", "variantHgvsId": "NC_000016.10:g.1602561T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002088496", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000183230", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "10_66379136_T_G", "variantRsId": "rs775638559", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 13", "Arrhythmogenic right ventricular dysplasia 13", "Arrhythmogenic right ventricular dysplasia, familial, 13"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 13", "diseaseFromSourceId": "C3810138", "diseaseFromSourceMappedId": "Orphanet_217656", "variantHgvsId": "NC_000010.11:g.66379136T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002094328", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000148677", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "10_90918983_A_AATATATATATATATATAT", "variantRsId": "rs766545285", "cohortPhenotypes": ["ANKRD1-related dilated cardiomyopathy"], "diseaseFromSource": "ANKRD1-related dilated cardiomyopathy", "diseaseFromSourceId": "CN119551", "variantHgvsId": "NC_000010.11:g.90918985TA[10]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002103867", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000132763", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_45508289_G_A", "variantRsId": "rs765769901", "cohortPhenotypes": ["Cobalamin C disease", "Cobalamin-C methylmalonic acidemia and homocystinuria", "Methylmalonic acidemia and homocystinuria cblC type", "Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive", "Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase", "methylmalonic aciduria and homocystinuria type cblC"], "diseaseFromSource": "Cobalamin C disease", "diseaseFromSourceId": "C1848561", "diseaseFromSourceMappedId": "Orphanet_26", "variantHgvsId": "NC_000001.11:g.45508289G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002103867", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000132763", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_45508289_G_A", "variantRsId": "rs765769901", "cohortPhenotypes": ["Cobalamin C disease", "Cobalamin-C methylmalonic acidemia and homocystinuria", "Methylmalonic acidemia and homocystinuria cblC type", "Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive", "Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase", "methylmalonic aciduria and homocystinuria type cblC"], "diseaseFromSource": "Cobalamin C disease", "diseaseFromSourceId": "C1848561", "diseaseFromSourceMappedId": "Orphanet_79282", "variantHgvsId": "NC_000001.11:g.45508289G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002104093", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000165917", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_47438749_G_A", "variantRsId": "rs765481657", "cohortPhenotypes": ["Congenital myasthenic syndrome 11", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "MYASTHENIC SYNDROME, CONGENITAL, Ie", "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Fetal akinesia deformation sequence 1", "diseaseFromSourceId": "C1276035", "diseaseFromSourceMappedId": "Orphanet_994", "variantHgvsId": "NC_000011.10:g.47438749G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002104093", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000165917", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_47438749_G_A", "variantRsId": "rs765481657", "cohortPhenotypes": ["Congenital myasthenic syndrome 11", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "MYASTHENIC SYNDROME, CONGENITAL, Ie", "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Congenital myasthenic syndrome 11", "diseaseFromSourceId": "C4225367", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000011.10:g.47438749G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting classifications", "studyId": "RCV002113550", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000103313", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_3254642_C_G", "variantRsId": "rs1465332482", "cohortPhenotypes": ["Benign paroxysmal peritonitis", "Familial Mediterranean fever", "POLYSEROSITIS, FAMILIAL PAROXYSMAL", "POLYSEROSITIS, RECURRENT", "Periodic disease", "Periodic peritonitis"], "diseaseFromSource": "Familial Mediterranean fever", "diseaseFromSourceId": "C0031069", "diseaseFromSourceMappedId": "MONDO_0018088", "variantHgvsId": "NC_000016.10:g.3254642C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002121537", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000166813", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "15_89633008_T_TAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG", "variantRsId": "rs3840030", "cohortPhenotypes": ["Absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly", "Acrocallosal syndrome", "Acrocallosal syndrome, Schinzel type", "HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM", "Schinzel syndrome 1"], "diseaseFromSource": "Acrocallosal syndrome", "diseaseFromSourceId": "C0796147", "diseaseFromSourceMappedId": "MONDO_0008708", "variantHgvsId": "NC_000015.10:g.89633010GGGA[14]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002121537", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000166813", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "15_89633008_T_TAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG", "variantRsId": "rs3840030", "cohortPhenotypes": ["Absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly", "Acrocallosal syndrome", "Acrocallosal syndrome, Schinzel type", "HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM", "Schinzel syndrome 1"], "diseaseFromSource": "Acrocallosal syndrome", "diseaseFromSourceId": "C0796147", "diseaseFromSourceMappedId": "Orphanet_36", "variantHgvsId": "NC_000015.10:g.89633010GGGA[14]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002128203", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000168646", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_65558594_G_A", "variantRsId": "rs2144592246", "cohortPhenotypes": ["Oligodontia-cancer predisposition syndrome", "Oligodontia-colorectal cancer syndrome", "TOOTH AGENESIS-COLORECTAL CANCER SYNDROME"], "diseaseFromSource": "Oligodontia-cancer predisposition syndrome", "diseaseFromSourceId": "C1837750", "diseaseFromSourceMappedId": "MONDO_0012075", "variantHgvsId": "NC_000017.11:g.65558594G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002128203", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000168646", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_65558594_G_A", "variantRsId": "rs2144592246", "cohortPhenotypes": ["Oligodontia-cancer predisposition syndrome", "Oligodontia-colorectal cancer syndrome", "TOOTH AGENESIS-COLORECTAL CANCER SYNDROME"], "diseaseFromSource": "Oligodontia-cancer predisposition syndrome", "diseaseFromSourceId": "C1837750", "diseaseFromSourceMappedId": "Orphanet_300576", "variantHgvsId": "NC_000017.11:g.65558594G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002135703", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000054523", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_10271558_T_C", "variantRsId": "rs2102213262", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 2", "Charcot-Marie-Tooth, Type 2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2", "diseaseFromSourceId": "C0270914", "diseaseFromSourceMappedId": "MONDO_0018993", "variantHgvsId": "NC_000001.11:g.10271558T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002156689", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000135454", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_57630206_G_A", "variantRsId": "rs2140249188", "cohortPhenotypes": ["Spastic paraplegia"], "diseaseFromSource": "Spastic paraplegia", "diseaseFromSourceId": "C0037772", "diseaseFromSourceMappedId": "HP_0001258", "variantHgvsId": "NC_000012.12:g.57630206G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002156770", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000169057", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154030523_C_T", "variantRsId": "rs2148658929", "cohortPhenotypes": ["Encephalopathy, neonatal severe", "Encephalopathy, neonatal severe, due to MECP2 mutations", "Severe neonatal-onset encephalopathy with microcephaly"], "diseaseFromSource": "Severe neonatal-onset encephalopathy with microcephaly", "diseaseFromSourceId": "C1968556", "diseaseFromSourceMappedId": "MONDO_0010397", "variantHgvsId": "NC_000023.11:g.154030523C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002163901", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000143951", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_63174851_ATG_A", "variantRsId": "rs1672121339", "cohortPhenotypes": ["Bardet-Biedl syndrome"], "diseaseFromSource": "Bardet-Biedl syndrome", "diseaseFromSourceId": "C0752166", "diseaseFromSourceMappedId": "MONDO_0015229", "variantHgvsId": "NC_000002.12:g.63174852TG[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002165113", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000183091", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_151492377_C_T", "variantRsId": "rs2152826984", "cohortPhenotypes": ["Nemaline myopathy 2", "Nemaline myopathy 2, autosomal recessive", "Nemaline myopathy caused by mutation in the nebulin gene"], "diseaseFromSource": "Nemaline myopathy 2", "diseaseFromSourceId": "C1850569", "diseaseFromSourceMappedId": "MONDO_0018958", "variantHgvsId": "NC_000002.12:g.151492377C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002165113", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000183091", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_151492377_C_T", "variantRsId": "rs2152826984", "cohortPhenotypes": ["Nemaline myopathy 2", "Nemaline myopathy 2, autosomal recessive", "Nemaline myopathy caused by mutation in the nebulin gene"], "diseaseFromSource": "Nemaline myopathy 2", "diseaseFromSourceId": "C1850569", "diseaseFromSourceMappedId": "Orphanet_607", "variantHgvsId": "NC_000002.12:g.151492377C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002172121", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "8_99391670_T_C", "variantRsId": "rs2133312781", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", "diseaseFromSourceId": "C0265223", "diseaseFromSourceMappedId": "MONDO_0008999", "variantHgvsId": "NC_000008.11:g.99391670T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002174084", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000101986", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_153725899_C_G", "variantRsId": "rs145009407", "cohortPhenotypes": ["ADDISON DISEASE AND CEREBRAL SCLEROSIS", "Adrenoleukodystrophy", "BRONZE SCHILDER DISEASE", "MELANODERMIC LEUKODYSTROPHY", "SIEMERLING-CREUTZFELDT DISEASE"], "diseaseFromSource": "Adrenoleukodystrophy", "diseaseFromSourceId": "C0162309", "diseaseFromSourceMappedId": "Orphanet_43", "variantHgvsId": "NC_000023.11:g.153725899C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002178619", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000182621", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "20_8371462_A_G", "variantRsId": "rs200984500", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 12", "Early infantile epileptic encephalopathy 12"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 12", "diseaseFromSourceId": "C3150988", "diseaseFromSourceMappedId": "MONDO_0013389", "variantHgvsId": "NC_000020.11:g.8371462A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002178619", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000182621", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "20_8371462_A_G", "variantRsId": "rs200984500", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 12", "Early infantile epileptic encephalopathy 12"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 12", "diseaseFromSourceId": "C3150988", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000020.11:g.8371462A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002179803", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000141458", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_23541169_C_T", "variantRsId": "rs775077140", "cohortPhenotypes": ["NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY", "NIEMANN-PICK DISEASE, VARIANT TYPE C1", "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "Niemann-Pick disease with cholesterol esterification block", "Niemann-Pick disease, chronic neuronopathic form", "Niemann-Pick disease, type C1"], "diseaseFromSource": "Niemann-Pick disease, type C1", "diseaseFromSourceId": "C3179455", "diseaseFromSourceMappedId": "MONDO_0018982", "variantHgvsId": "NC_000018.10:g.23541169C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002202986", "releaseDate": "2022-04-08", "targetFromSourceId": "ENSG00000117020", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_243573016_G_A", "variantRsId": "rs1340146435", "cohortPhenotypes": ["MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, SOMATIC", "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2"], "diseaseFromSource": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2", "diseaseFromSourceId": "C4014738", "diseaseFromSourceMappedId": "Orphanet_83473", "variantHgvsId": "NC_000001.11:g.243573016G>A"} 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"variantFunctionalConsequenceId": "SO_0001819", "variantId": "14_45151432_G_A", "variantRsId": "rs763895177", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000014.9:g.45151432G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002259254", "releaseDate": "2022-06-24", "targetFromSourceId": "ENSG00000110711", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_67489281_C_T", "variantRsId": "rs2134253261", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", 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"variantId": "9_132905803_G_A", "variantRsId": "rs775869914", "cohortPhenotypes": ["Tuberous sclerosis 1"], "diseaseFromSource": "Tuberous sclerosis 1", "diseaseFromSourceId": "C1854465", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000009.12:g.132905803G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001080129", "releaseDate": "2020-05-04", "targetFromSourceId": "ENSG00000020922", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_94420160_T_C", "variantRsId": "rs1805362", "cohortPhenotypes": ["Ataxia-telangiectasia-like disorder"], "diseaseFromSource": "Ataxia-telangiectasia-like disorder", "diseaseFromSourceId": "C1858391", "diseaseFromSourceMappedId": "MONDO_0011457", "variantHgvsId": "NC_000011.10:g.94420160T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001114788", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000111199", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_109786742_C_G", "variantRsId": "rs138986228", "cohortPhenotypes": ["Dysmorphism arthrogryposis skeletal maturation advanced", "Jequier-Kozlowski syndrome", "SMD Kozlowski type", "Skeletal dysplasia Jequier-Kozlowski type", "Spondylometaphyseal dysplasia, Kozlowski type"], "diseaseFromSource": "Spondylometaphyseal dysplasia, Kozlowski type", "diseaseFromSourceId": "C0265280", "diseaseFromSourceMappedId": "MONDO_0008477", "variantHgvsId": "NC_000012.12:g.109786742C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001159488", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000106211", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "7_76302721_G_A", "variantRsId": "rs77586767", "cohortPhenotypes": ["HMN IIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB", "Neuronopathy, distal hereditary motor, type 2B"], "diseaseFromSource": "Neuronopathy, distal hereditary motor, type 2B", "diseaseFromSourceId": "C2608087", "variantHgvsId": "NC_000007.14:g.76302721G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001169346", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000106991", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_127815148_G_A", "variantRsId": "rs893984357", "cohortPhenotypes": ["Osler Weber Rendu syndrome type 1", "Telangiectasia, hereditary hemorrhagic, type 1"], "diseaseFromSource": "Telangiectasia, hereditary hemorrhagic, type 1", "diseaseFromSourceId": "C4551861", "diseaseFromSourceMappedId": "MONDO_0008535", "variantHgvsId": "NC_000009.12:g.127815148G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001177962", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000163513", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_30672180_C_G", "variantRsId": "rs1699353812", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "EFO_0009299", "variantHgvsId": "NC_000003.12:g.30672180C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001177962", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000163513", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_30672180_C_G", "variantRsId": "rs1699353812", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "Orphanet_285014", "variantHgvsId": "NC_000003.12:g.30672180C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001182919", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_112838104_C_T", "variantRsId": "rs79512956", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000005.10:g.112838104C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001204514", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000062822", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "19_50416608_AG_A", "variantRsId": "rs756872503", "cohortPhenotypes": ["COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q", "Colorectal cancer 10", "Colorectal cancer, susceptibility to, 10"], "diseaseFromSource": "Colorectal cancer, susceptibility to, 10", "diseaseFromSourceId": "C2675481", "diseaseFromSourceMappedId": "EFO_0005842", "variantHgvsId": "NC_000019.10:g.50416615del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001236913", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000198707", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_88118527_A_AT", "variantRsId": "rs727503855", "cohortPhenotypes": ["Agenesis of cerebellar vermis", "CEREBELLOPARENCHYMAL DISORDER IV", "Cerebellar vermis agenesis", "Cerebelloparenchymal disorder 4", "DYSENCEPHALIA SPLANCHNOCYSTICA", "Dysencephalia splachnocystica", "Familial aplasia of the vermis", "Gruber syndrome", "Joubert syndrome", "Joubert-Boltshauser syndrome", "Meckel-Gruber syndrome", "Nephronophthisis", "juvenile nephronophthisis"], "diseaseFromSource": "Joubert syndrome", "diseaseFromSourceId": "C0431399", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000012.12:g.88118537dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001236913", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000198707", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_88118527_A_AT", "variantRsId": "rs727503855", "cohortPhenotypes": ["Agenesis of cerebellar vermis", "CEREBELLOPARENCHYMAL DISORDER IV", "Cerebellar vermis agenesis", "Cerebelloparenchymal disorder 4", "DYSENCEPHALIA SPLANCHNOCYSTICA", "Dysencephalia splachnocystica", "Familial aplasia of the vermis", "Gruber syndrome", "Joubert syndrome", "Joubert-Boltshauser syndrome", "Meckel-Gruber syndrome", "Nephronophthisis", "juvenile nephronophthisis"], "diseaseFromSource": "Meckel-Gruber syndrome", "diseaseFromSourceId": "C0265215", "diseaseFromSourceMappedId": "MONDO_0018921", "variantHgvsId": "NC_000012.12:g.88118537dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001236913", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000198707", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_88118527_A_AT", "variantRsId": "rs727503855", "cohortPhenotypes": ["Agenesis of cerebellar vermis", "CEREBELLOPARENCHYMAL DISORDER IV", "Cerebellar vermis agenesis", "Cerebelloparenchymal disorder 4", "DYSENCEPHALIA SPLANCHNOCYSTICA", "Dysencephalia splachnocystica", "Familial aplasia of the vermis", "Gruber syndrome", "Joubert syndrome", "Joubert-Boltshauser syndrome", "Meckel-Gruber syndrome", "Nephronophthisis", "juvenile nephronophthisis"], "diseaseFromSource": "Nephronophthisis", "diseaseFromSourceId": "C0687120", "diseaseFromSourceMappedId": "MONDO_0019005", "variantHgvsId": "NC_000012.12:g.88118537dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001338193", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_43094543_C_T", "variantRsId": "rs397507259", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.43094543C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001338193", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_43094543_C_T", "variantRsId": "rs397507259", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "MONDO_0003582", "variantHgvsId": "NC_000017.11:g.43094543C>T"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001356658", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "13_32336694_C_G", "variantRsId": "rs587781471", "cohortPhenotypes": ["Breast cancer", "Malignant breast neoplasm", "Malignant tumor of breast"], "diseaseFromSource": "Malignant tumor of breast", "diseaseFromSourceId": "C0006142", "diseaseFromSourceMappedId": "EFO_0000305", "variantHgvsId": "NC_000013.11:g.32336694C>G"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001356658", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "13_32336694_C_G", "variantRsId": "rs587781471", "cohortPhenotypes": ["Breast cancer", "Malignant breast neoplasm", "Malignant tumor of breast"], "diseaseFromSource": "Malignant tumor of breast", "diseaseFromSourceId": "C0006142", "diseaseFromSourceMappedId": "MONDO_0007254", "variantHgvsId": "NC_000013.11:g.32336694C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001394372", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_43094826_A_G", "variantRsId": "rs1165432483", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.43094826A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001394372", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_43094826_A_G", "variantRsId": "rs1165432483", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "MONDO_0003582", "variantHgvsId": "NC_000017.11:g.43094826A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001782803", "releaseDate": "2022-01-03", "targetFromSourceId": "ENSG00000167207", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_50710770_C_T", "variantRsId": "rs560242309", "cohortPhenotypes": ["Enteritis, Granulomatous", "Inflammatory bowel disease 1", "Inflammatory bowel disease 1, Crohn disease"], "diseaseFromSource": "Inflammatory bowel disease 1", "diseaseFromSourceId": "CN260071", "diseaseFromSourceMappedId": "EFO_0000384", "variantHgvsId": "NC_000016.10:g.50710770C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001782803", "releaseDate": "2022-01-03", "targetFromSourceId": "ENSG00000167207", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_50710770_C_T", "variantRsId": "rs560242309", "cohortPhenotypes": ["Enteritis, Granulomatous", "Inflammatory bowel disease 1", "Inflammatory bowel disease 1, Crohn disease"], "diseaseFromSource": "Inflammatory bowel disease 1", "diseaseFromSourceId": "CN260071", "diseaseFromSourceMappedId": "EFO_0000729", "variantHgvsId": "NC_000016.10:g.50710770C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["drug response"], "confidence": "reviewed by expert panel", "studyId": "RCV001787325", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000134538", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_21178615_T_C", "variantRsId": "rs4149056", "cohortPhenotypes": ["simvastatin response - Toxicity"], "diseaseFromSource": "simvastatin response - Toxicity", "variantHgvsId": "NC_000012.12:g.21178615T>C"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001787340", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000187049", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_61393907_GCTAAC_G", "variantRsId": "rs1554972556", "cohortPhenotypes": ["Cerebellooculorenal syndrome 2", "Joubert syndrome 2", "MECKEL-GRUBER SYNDROME, TYPE 2", "MKS2-Related Meckel Syndrome", "Meckel syndrome, type 2"], "diseaseFromSource": "Joubert syndrome 2", "diseaseFromSourceId": "C1842577", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000011.10:g.61393911_61393915del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001787340", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000187049", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_61393907_GCTAAC_G", "variantRsId": "rs1554972556", "cohortPhenotypes": ["Cerebellooculorenal syndrome 2", "Joubert syndrome 2", "MECKEL-GRUBER SYNDROME, TYPE 2", "MKS2-Related Meckel Syndrome", "Meckel syndrome, type 2"], "diseaseFromSource": "Meckel syndrome, type 2", "diseaseFromSourceId": "C1864148", "diseaseFromSourceMappedId": "MONDO_0018921", "variantHgvsId": "NC_000011.10:g.61393911_61393915del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001824739", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000084754", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "2_26190873_GAC_G", "variantRsId": "rs886055861", "cohortPhenotypes": ["Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase", "LCHAD Deficiency", "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C3711645", "diseaseFromSourceMappedId": "Orphanet_5", "variantHgvsId": "NC_000002.12:g.26190875CA[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001824739", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000084754", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "2_26190873_GAC_G", "variantRsId": "rs886055861", "cohortPhenotypes": ["Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase", "LCHAD Deficiency", "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C3711645", "diseaseFromSourceMappedId": "MONDO_0012173", "variantHgvsId": "NC_000002.12:g.26190875CA[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001841185", "releaseDate": "2022-05-07", "targetFromSourceId": "ENSG00000108961", "variantFunctionalConsequenceId": "SO_0001578", "variantId": "17_8289817_G_C", "variantRsId": "rs1990342112", "cohortPhenotypes": ["Cardiac arrhythmia"], "diseaseFromSource": "Cardiac arrhythmia", "diseaseFromSourceId": "C0003811", "diseaseFromSourceMappedId": "EFO_0004269", "variantHgvsId": "NC_000017.11:g.8289817G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001841185", "releaseDate": "2022-05-07", "targetFromSourceId": "ENSG00000125434", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_8289817_G_C", "variantRsId": "rs1990342112", "cohortPhenotypes": ["Cardiac arrhythmia"], "diseaseFromSource": "Cardiac arrhythmia", "diseaseFromSourceId": "C0003811", "diseaseFromSourceMappedId": "EFO_0004269", "variantHgvsId": "NC_000017.11:g.8289817G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001843181", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000055118", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_150957496_A_C", "variantRsId": "rs372559632", "cohortPhenotypes": ["Cardiac arrhythmia"], "diseaseFromSource": "Cardiac arrhythmia", "diseaseFromSourceId": "C0003811", "diseaseFromSourceMappedId": "EFO_0004269", "variantHgvsId": "NC_000007.14:g.150957496A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001851586", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000169247", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "5_149026872_G_A", "variantRsId": "rs80338933", "cohortPhenotypes": ["Toe walking"], "diseaseFromSource": "Toe walking", "diseaseFromSourceId": "C0427144", "diseaseFromSourceMappedId": "HP_0030051", "variantHgvsId": "NC_000005.10:g.149026872G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001851761", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000204217", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_202552774_G_A", "variantRsId": "rs137852749", "cohortPhenotypes": ["Primary pulmonary hypertension"], "diseaseFromSource": "Primary pulmonary hypertension", "diseaseFromSourceId": "C0152171", "diseaseFromSourceMappedId": "MONDO_0017147", "variantHgvsId": "NC_000002.12:g.202552774G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001852052", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000105711", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_35039684_G_A", "variantRsId": "rs77106213", "cohortPhenotypes": ["Brugada syndrome 5"], "diseaseFromSource": "Brugada syndrome 5", "diseaseFromSourceId": "C2748541", "diseaseFromSourceMappedId": "MONDO_0015263", "variantHgvsId": "NC_000019.10:g.35039684G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001931870", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000164073", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_127930737_G_T", "cohortPhenotypes": ["MFSD8-Related Neuronal Ceroid-Lipofuscinosis", "Neuronal ceroid lipofuscinosis 7"], "diseaseFromSource": "Neuronal ceroid lipofuscinosis 7", "diseaseFromSourceId": "C1838571", "diseaseFromSourceMappedId": "MONDO_0016295", "variantHgvsId": "NC_000004.12:g.127930737G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001952312", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000169814", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_15641944_C_T", "cohortPhenotypes": ["BTD deficiency", "Biotin deficiency", "Biotinidase deficiency", "Late-onset biotin-responsive multiple carboxylase deficiency"], "diseaseFromSource": "Biotinidase deficiency", "diseaseFromSourceId": "C0220754", "diseaseFromSourceMappedId": "MONDO_0009665", "variantHgvsId": "NC_000003.12:g.15641944C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001959159", "releaseDate": "2022-05-21", "targetFromSourceId": "ENSG00000134480", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "5_87379766_A_ATGTGAACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC", "cohortPhenotypes": ["Capillary malformation-arteriovenous malformation", "Capillary malformation-arteriovenous malformation syndrome"], "diseaseFromSource": "Capillary malformation-arteriovenous malformation syndrome", "diseaseFromSourceId": "C1842180", "diseaseFromSourceMappedId": "Orphanet_137667", "variantHgvsId": "NC_000005.10:g.87379767_87379781TG[2]AACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGTGAACACTAATTT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001959159", "releaseDate": "2022-05-21", "targetFromSourceId": "ENSG00000145715", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "5_87379766_A_ATGTGAACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC", "cohortPhenotypes": ["Capillary malformation-arteriovenous malformation", "Capillary malformation-arteriovenous malformation syndrome"], "diseaseFromSource": "Capillary malformation-arteriovenous malformation syndrome", "diseaseFromSourceId": "C1842180", "diseaseFromSourceMappedId": "Orphanet_137667", "variantHgvsId": "NC_000005.10:g.87379767_87379781TG[2]AACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGTGAACACTAATTT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001959159", "releaseDate": "2022-05-21", "targetFromSourceId": "ENSG00000134480", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "5_87379766_A_ATGTGAACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC", "cohortPhenotypes": ["Capillary malformation-arteriovenous malformation", "Capillary malformation-arteriovenous malformation syndrome"], "diseaseFromSource": "Capillary malformation-arteriovenous malformation syndrome", "diseaseFromSourceId": "C1842180", "diseaseFromSourceMappedId": "MONDO_0012016", "variantHgvsId": "NC_000005.10:g.87379767_87379781TG[2]AACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGTGAACACTAATTT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001959159", "releaseDate": "2022-05-21", "targetFromSourceId": "ENSG00000145715", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "5_87379766_A_ATGTGAACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC", "cohortPhenotypes": ["Capillary malformation-arteriovenous malformation", "Capillary malformation-arteriovenous malformation syndrome"], "diseaseFromSource": "Capillary malformation-arteriovenous malformation syndrome", "diseaseFromSourceId": "C1842180", "diseaseFromSourceMappedId": "MONDO_0012016", "variantHgvsId": "NC_000005.10:g.87379767_87379781TG[2]AACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGTGAACACTAATTT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002010146", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000165731", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_43102592_G_C", "cohortPhenotypes": ["Multiple endocrine neoplasia, type 2"], "diseaseFromSource": "Multiple endocrine neoplasia, type 2", "diseaseFromSourceId": "C4048306", "diseaseFromSourceMappedId": "MONDO_0019003", "variantHgvsId": "NC_000010.11:g.43102592G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002037142", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_43091455_T_C", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.43091455T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002037142", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_43091455_T_C", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "MONDO_0003582", "variantHgvsId": "NC_000017.11:g.43091455T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002078925", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000163513", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_30674146_C_T", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "EFO_0009299", "variantHgvsId": "NC_000003.12:g.30674146C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002078925", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000163513", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_30674146_C_T", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "Orphanet_285014", "variantHgvsId": "NC_000003.12:g.30674146C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002080160", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000107796", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_88938118_A_G", "cohortPhenotypes": ["Aortic aneurysm, familial thoracic 6", "FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI"], "diseaseFromSource": "Aortic aneurysm, familial thoracic 6", "diseaseFromSourceId": "C2673186", "diseaseFromSourceMappedId": "MONDO_0019625", "variantHgvsId": "NC_000010.11:g.88938118A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002080160", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000138134", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "10_88938118_A_G", "cohortPhenotypes": ["Aortic aneurysm, familial thoracic 6", "FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI"], "diseaseFromSource": "Aortic aneurysm, familial thoracic 6", "diseaseFromSourceId": "C2673186", "diseaseFromSourceMappedId": "MONDO_0019625", "variantHgvsId": "NC_000010.11:g.88938118A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002230862", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000122512", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "7_6004064_A_G", "variantRsId": "rs1060504837", "cohortPhenotypes": ["Hereditary nonpolyposis colorectal neoplasms"], "diseaseFromSource": "Hereditary nonpolyposis colorectal neoplasms", "diseaseFromSourceId": "C0009405", "diseaseFromSourceMappedId": "EFO_0009911", "variantHgvsId": "NC_000007.14:g.6004064A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002232090", "releaseDate": "2022-05-28", "targetFromSourceId": "ENSG00000020922", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_94485928_T_A", "variantRsId": "rs748434421", "cohortPhenotypes": ["Ataxia-telangiectasia-like disorder"], "diseaseFromSource": "Ataxia-telangiectasia-like disorder", "diseaseFromSourceId": "C1858391", "diseaseFromSourceMappedId": "MONDO_0011457", "variantHgvsId": "NC_000011.10:g.94485928T>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002234807", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000160014", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_46608879_C_T", "variantRsId": "rs1599759441", "cohortPhenotypes": ["Long QT syndrome 1"], "diseaseFromSource": "Long QT syndrome 1", "diseaseFromSourceId": "C4551647", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000019.10:g.46608879C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002241250", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "5_112839444_G_T", "variantRsId": "rs1765537897", "cohortPhenotypes": ["APC-Associated Polyposis Conditions", "FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED", "Familial adenomatous polyposis 1", "POLYPOSIS, ADENOMATOUS INTESTINAL"], "diseaseFromSource": "Familial adenomatous polyposis 1", "diseaseFromSourceId": "C2713442", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112839444G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002241833", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "5_112707390_G_C", "variantRsId": "rs1750554761", "cohortPhenotypes": ["APC-Associated Polyposis Conditions", "FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED", "Familial adenomatous polyposis 1", "POLYPOSIS, ADENOMATOUS INTESTINAL"], "diseaseFromSource": "Familial adenomatous polyposis 1", "diseaseFromSourceId": "C2713442", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112707390G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002242068", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_112838046_A_T", "variantRsId": "rs1765186281", "cohortPhenotypes": ["APC-Associated Polyposis Conditions", "FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED", "Familial adenomatous polyposis 1", "POLYPOSIS, ADENOMATOUS INTESTINAL"], "diseaseFromSource": "Familial adenomatous polyposis 1", "diseaseFromSourceId": "C2713442", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112838046A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002269974", "releaseDate": "2022-07-30", "targetFromSourceId": "ENSG00000130635", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_134842317_C_T", "variantRsId": "rs12553247", "cohortPhenotypes": ["FIBROMUSCULAR DYSPLASIA, MULTIFOCAL"], "diseaseFromSource": "FIBROMUSCULAR DYSPLASIA, MULTIFOCAL", "diseaseFromSourceId": "C5543412", "variantHgvsId": "NC_000009.12:g.134842317C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002270594", "releaseDate": "2022-07-30", "targetFromSourceId": "ENSG00000107147", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_135784872_G_A", "variantRsId": "rs760000324", "cohortPhenotypes": ["Autosomal dominant nocturnal frontal lobe epilepsy 5", "CILIARY DYSKINESIA, PRIMARY, 28, WITH SITUS INVERSUS", "CILIARY DYSKINESIA, PRIMARY, 28, WITHOUT SITUS INVERSUS", "Epilepsy, nocturnal frontal lobe, 5"], "diseaseFromSource": "Autosomal dominant nocturnal frontal lobe epilepsy 5", "diseaseFromSourceId": "C3554306", "diseaseFromSourceMappedId": "Orphanet_98784", "variantHgvsId": "NC_000009.12:g.135784872G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002271124", "releaseDate": "2022-07-30", "targetFromSourceId": "ENSG00000041982", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_115086089_C_T", "variantRsId": "rs61729478", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 56", "Deafness, autosomal dominant 56"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 56", "diseaseFromSourceId": "C3810170", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000009.12:g.115086089C>T"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000669385", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000179941", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_76346796_TAG_T", "variantRsId": "rs1555202636", "cohortPhenotypes": ["Bardet-Biedl syndrome 10"], "diseaseFromSource": "Bardet-Biedl syndrome 10", "diseaseFromSourceId": "C1859568", "diseaseFromSourceMappedId": "EFO_0009022", "variantHgvsId": "NC_000012.12:g.76346797AG[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000696219", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000175084", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_219420949_G_A", "variantRsId": "rs1559353118", "cohortPhenotypes": ["DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY", "Desmin related myopathy (former name)", "Desmin storage myopathy (former name)", "Desmin-related myofibrillar myopathy", "Desminopathy", "MYOFIBRILLAR MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY", "Myofibrillar myopathy 1"], "diseaseFromSource": "Desmin-related myofibrillar myopathy", "diseaseFromSourceId": "C1832370", "diseaseFromSourceMappedId": "Orphanet_98909", "variantHgvsId": "NC_000002.12:g.219420949G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000861746", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000100523", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "14_53152762_T_TGCCGCCGCCGCC", "variantRsId": "rs55671452", "cohortPhenotypes": ["Hereditary spastic paraplegia 28", "Spastic paraplegia 28, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 28", "diseaseFromSourceId": "C1836295", "diseaseFromSourceMappedId": "MONDO_0012256", "variantHgvsId": "NC_000014.9:g.53152765_53152767CGC[8]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000861746", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000100523", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "14_53152762_T_TGCCGCCGCCGCC", "variantRsId": "rs55671452", "cohortPhenotypes": ["Hereditary spastic paraplegia 28", "Spastic paraplegia 28, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 28", "diseaseFromSourceId": "C1836295", "diseaseFromSourceMappedId": "Orphanet_101008", "variantHgvsId": "NC_000014.9:g.53152765_53152767CGC[8]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000869437", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178725603_G_A", "variantRsId": "rs374731328", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Dilated cardiomyopathy 1G", "diseaseFromSourceId": "C1858763", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000002.12:g.178725603G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000869437", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178725603_G_A", "variantRsId": "rs374731328", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "MONDO_0012127", "variantHgvsId": "NC_000002.12:g.178725603G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000869437", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178725603_G_A", "variantRsId": "rs374731328", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.178725603G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000964608", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000196557", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "16_1206297_C_A", "variantRsId": "rs367549572", "cohortPhenotypes": ["ALDOSTERONISM, PRIMARY, AND HYPERTENSION", "EIG", "FH IV", "Generalised epilepsy", "Hyperaldosteronism, familial, type IV", "Idiopathic generalized epilepsy"], "diseaseFromSource": "Idiopathic generalized epilepsy", "diseaseFromSourceId": "C0270850", "diseaseFromSourceMappedId": "EFO_0005917", "variantHgvsId": "NC_000016.10:g.1206297C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000964608", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000196557", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "16_1206297_C_A", "variantRsId": "rs367549572", "cohortPhenotypes": ["ALDOSTERONISM, PRIMARY, AND HYPERTENSION", "EIG", "FH IV", "Generalised epilepsy", "Hyperaldosteronism, familial, type IV", "Idiopathic generalized epilepsy"], "diseaseFromSource": "Hyperaldosteronism, familial, type IV", "diseaseFromSourceId": "C4310756", "diseaseFromSourceMappedId": "MONDO_0016525", "variantHgvsId": "NC_000016.10:g.1206297C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001042799", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "MONDO_0007424", "variantHgvsId": "NC_000005.10:g.141573998_141574000GAG[15]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001042799", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000005.10:g.141573998_141574000GAG[15]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001042799", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "diseaseFromSourceId": "C5567650", "diseaseFromSourceMappedId": "MONDO_0014714", "variantHgvsId": "NC_000005.10:g.141573998_141574000GAG[15]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001133636", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_178730081_T_C", "variantRsId": "rs376899412", "cohortPhenotypes": ["Distal myopathy Markesbery-Griggs type", "Tibial muscular dystrophy", "Tibial muscular dystrophy, tardive", "UDD Myopathy", "Udd Distal Myopathy"], "diseaseFromSource": "Tibial muscular dystrophy", "diseaseFromSourceId": "C1838244", "diseaseFromSourceMappedId": "Orphanet_98912", "variantHgvsId": "NC_000002.12:g.178730081T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001133636", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_178730081_T_C", "variantRsId": "rs376899412", "cohortPhenotypes": ["Distal myopathy Markesbery-Griggs type", "Tibial muscular dystrophy", "Tibial muscular dystrophy, tardive", "UDD Myopathy", "Udd Distal Myopathy"], "diseaseFromSource": "Tibial muscular dystrophy", "diseaseFromSourceId": "C1838244", "diseaseFromSourceMappedId": "MONDO_0010870", "variantHgvsId": "NC_000002.12:g.178730081T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001206617", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000136531", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165313705_T_C", "variantRsId": "rs1697569337", "cohortPhenotypes": ["CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3", "Developmental and epileptic encephalopathy, 11", "Early infantile epileptic encephalopathy 11", "Familial neonatal seizures", "Seizures, benign familial infantile, 3"], "diseaseFromSource": "Seizures, benign familial infantile, 3", "diseaseFromSourceId": "C1843140", "diseaseFromSourceMappedId": "Orphanet_140927", "variantHgvsId": "NC_000002.12:g.165313705T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001206617", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000136531", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165313705_T_C", "variantRsId": "rs1697569337", "cohortPhenotypes": ["CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3", "Developmental and epileptic encephalopathy, 11", "Early infantile epileptic encephalopathy 11", "Familial neonatal seizures", "Seizures, benign familial infantile, 3"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 11", "diseaseFromSourceId": "C3150987", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000002.12:g.165313705T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001212575", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000136531", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165354483_G_A", "variantRsId": "rs1553584033", "cohortPhenotypes": ["CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3", "Developmental and epileptic encephalopathy, 11", "Early infantile epileptic encephalopathy 11", "Familial neonatal seizures", "Seizures, benign familial infantile, 3"], "diseaseFromSource": "Seizures, benign familial infantile, 3", "diseaseFromSourceId": "C1843140", "diseaseFromSourceMappedId": "Orphanet_140927", "variantHgvsId": "NC_000002.12:g.165354483G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001212575", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000136531", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165354483_G_A", "variantRsId": "rs1553584033", "cohortPhenotypes": ["CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3", "Developmental and epileptic encephalopathy, 11", "Early infantile epileptic encephalopathy 11", "Familial neonatal seizures", "Seizures, benign familial infantile, 3"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 11", "diseaseFromSourceId": "C3150987", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000002.12:g.165354483G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001213589", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000141527", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "17_80208193_CAGG_C", "variantRsId": "rs937454631", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2"], "diseaseFromSource": "Pityriasis rubra pilaris", "diseaseFromSourceId": "C0032027", "diseaseFromSourceMappedId": "MONDO_0008251", "variantHgvsId": "NC_000017.11:g.80208194AGG[2]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001213589", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000181523", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_80208193_CAGG_C", "variantRsId": "rs937454631", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2"], "diseaseFromSource": "Pityriasis rubra pilaris", "diseaseFromSourceId": "C0032027", "diseaseFromSourceMappedId": "MONDO_0008251", "variantHgvsId": "NC_000017.11:g.80208194AGG[2]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001213589", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000141527", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "17_80208193_CAGG_C", "variantRsId": "rs937454631", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2"], "diseaseFromSource": "Psoriasis 2", "diseaseFromSourceId": "C1864497", "diseaseFromSourceMappedId": "EFO_0000676", "variantHgvsId": "NC_000017.11:g.80208194AGG[2]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001213589", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000181523", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_80208193_CAGG_C", "variantRsId": "rs937454631", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2"], "diseaseFromSource": "Psoriasis 2", "diseaseFromSourceId": "C1864497", "diseaseFromSourceMappedId": "EFO_0000676", "variantHgvsId": "NC_000017.11:g.80208194AGG[2]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001294696", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000112319", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_133468630_A_G", "variantRsId": "rs1795052577", "cohortPhenotypes": ["CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT", "Dilated cardiomyopathy 1J"], "diseaseFromSource": "Dilated cardiomyopathy 1J", "diseaseFromSourceId": "C1854368", "diseaseFromSourceMappedId": "Orphanet_217622", "variantHgvsId": "NC_000006.12:g.133468630A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001298532", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000113522", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_132591382_A_G", "variantRsId": "rs1322845292", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Hereditary neoplastic syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000005.10:g.132591382A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001312346", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000185379", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_35103291_A_G", "variantRsId": "rs2091560784", "cohortPhenotypes": ["Breast-ovarian cancer, familial 4", "Breast-ovarian cancer, familial, susceptibility to, 4"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 4", "diseaseFromSourceId": "C3280345", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.35103291A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001350975", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000141646", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_51054866_A_C", "variantRsId": "rs1203141844", "cohortPhenotypes": ["Juvenile polyposis syndrome", "Polyposis familial of entire gastrointestinal tract", "Polyposis juvenile intestinal"], "diseaseFromSource": "Juvenile polyposis syndrome", "diseaseFromSourceId": "C0345893", "diseaseFromSourceMappedId": "MONDO_0017380", "variantHgvsId": "NC_000018.10:g.51054866A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001373298", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000155980", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_57578284_A_G", "variantRsId": "rs1882491979", "cohortPhenotypes": ["Spastic paraplegia"], "diseaseFromSource": "Spastic paraplegia", "diseaseFromSourceId": "C0037772", "diseaseFromSourceMappedId": "HP_0001258", "variantHgvsId": "NC_000012.12:g.57578284A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377998", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000036828", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_122275959_G_C", "variantRsId": "rs193922423", "cohortPhenotypes": ["Autosomal dominant hypocalcemia 1", "Familial benign hypercalcemia", "Familial hypocalciuric hypercalcemia", "HYPOCALCEMIA, FAMILIAL"], "diseaseFromSource": "Autosomal dominant hypocalcemia 1", "diseaseFromSourceId": "C0342345", "variantHgvsId": "NC_000003.12:g.122275959G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377998", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000036828", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_122275959_G_C", "variantRsId": "rs193922423", "cohortPhenotypes": ["Autosomal dominant hypocalcemia 1", "Familial benign hypercalcemia", "Familial hypocalciuric hypercalcemia", "HYPOCALCEMIA, FAMILIAL"], "diseaseFromSource": "Familial hypocalciuric hypercalcemia", "diseaseFromSourceId": "C1809471", "diseaseFromSourceMappedId": "MONDO_0018458", "variantHgvsId": "NC_000003.12:g.122275959G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001406516", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_141579091_C_T", "variantRsId": "rs767345240", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "MONDO_0007424", "variantHgvsId": "NC_000005.10:g.141579091C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001406516", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_141579091_C_T", "variantRsId": "rs767345240", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000005.10:g.141579091C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001406516", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_141579091_C_T", "variantRsId": "rs767345240", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "diseaseFromSourceId": "C5567650", "diseaseFromSourceMappedId": "MONDO_0014714", "variantHgvsId": "NC_000005.10:g.141579091C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001410350", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000129757", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "11_2884860_G_GGGGGCCGGGGCCGGGGCC", "variantRsId": "rs759134767", "cohortPhenotypes": ["Beckwith-Wiedemann syndrome", "EMG Syndrome", "Exomphalos macroglossia gigantism syndrome"], "diseaseFromSource": "Beckwith-Wiedemann syndrome", "diseaseFromSourceId": "C0004903", "diseaseFromSourceMappedId": "MONDO_0007534", "variantHgvsId": "NC_000011.10:g.2884866CGGGGC[7]"} diff --git a/tests/pipelines/resources/expected/google_sheets_table.tsv b/tests/pipelines/resources/expected/google_sheets_table.tsv index 792c2bbe..e2b46667 100644 --- a/tests/pipelines/resources/expected/google_sheets_table.tsv +++ b/tests/pipelines/resources/expected/google_sheets_table.tsv @@ -2,7 +2,8 @@ gc1/gc2 polymorphism 1 NT expansion http://purl.obolibrary.org/obo/MONDO_0010 inherited immunodeficiency diseases 2 http://identifiers.org/medgen/C5197805|Inherited Immunodeficiency Diseases|HIGH|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/C5197805|Inherited Immunodeficiency Diseases|HIGH|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/mesh/D000081207|Inherited Immunodeficiency Diseases|HIGH|clinvar-xrefs|NOT_CONTAINED congenital muscular dystrophy, alpha-dystroglycan related 1 http://identifiers.org/medgen/CN239202|Congenital Muscular Dystrophy, alpha-dystroglycan related|HIGH|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/CN239202|Congenital Muscular Dystrophy, alpha-dystroglycan related|HIGH|clinvar-xrefs|NOT_CONTAINED corneal dystrophy, recessive 1 http://identifiers.org/medgen/CN239343|Corneal Dystrophy, Recessive|HIGH|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/CN239343|Corneal Dystrophy, Recessive|HIGH|clinvar-xrefs|NOT_CONTAINED -isolated nonsyndromic congenital heart disease 1 http://identifiers.org/medgen/CN239319|Isolated Nonsyndromic Congenital Heart Disease|HIGH|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/CN239319|Isolated Nonsyndromic Congenital Heart Disease|HIGH|clinvar-xrefs|NOT_CONTAINED elfn1-related condition 1 http://purl.obolibrary.org/obo/MONDO_0045054|cancer-related condition|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0021074|precancerous condition|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|EFO_CURRENT http://purl.obolibrary.org/obo/HP_0025256|Ameliorated by heat|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/HP_0032522|Ameliorated by immunosuppresion|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_568065|EPHB4-related lymphatic-related hydrops fetalis|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.4.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_471012|RAS related|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.4.owl|NOT_CONTAINED +blepharophimosis, ptosis, and epicanthus inversus, type i 1 http://identifiers.org/medgen/C2931135|BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I|HIGH|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/C2931135|BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I|HIGH|clinvar-xrefs|NOT_CONTAINED autosomal dominant kcnq1-related disease 1 http://purl.obolibrary.org/obo/MONDO_0018832|HTRA1-related autosomal dominant cerebral small vessel disease|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0000426|autosomal dominant disease|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|EFO_CURRENT http://purl.obolibrary.org/obo/HP_0000006|Autosomal dominant inheritance|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|EFO_CURRENT http://www.orpha.net/ORDO/Orphanet_482077|HTRA1-related autosomal dominant cerebral small vessel disease|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.4.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_497757|MME-related autosomal dominant Charcot Marie Tooth disease type 2|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.4.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/HP_0003743|Genetic anticipation|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|NOT_CONTAINED +isolated nonsyndromic congenital heart disease 1 http://identifiers.org/medgen/CN239319|Isolated Nonsyndromic Congenital Heart Disease|HIGH|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/CN239319|Isolated Nonsyndromic Congenital Heart Disease|HIGH|clinvar-xrefs|NOT_CONTAINED simvastatin response - toxicity 1 http://www.ebi.ac.uk/efo/EFO_0011048|dermatological toxicity|MEDIUM|http://www.ebi.ac.uk/efo/efo.owl|EFO_CURRENT http://www.orpha.net/ORDO/Orphanet_529831|Letrozole toxicity|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.4.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/MONDO_0010784|chloramphenicol toxicity|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_565782|Methotrexate toxicity|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.4.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/MONDO_0023176|formaldehyde poisoning|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|NOT_CONTAINED diff --git a/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv b/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv index 47f27f12..7b7339dd 100644 --- a/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv +++ b/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv @@ -1,4 +1,4 @@ -#generated-date=2024-05-14 +#generated-date=2024-05-24 #ontology=EFO #clinvar_trait_name uri label 2-aminoadipic 2-oxoadipic aciduria http://purl.obolibrary.org/obo/MONDO_0008774 2-aminoadipic 2-oxoadipic aciduria @@ -35,7 +35,7 @@ aortic aneurysm, familial thoracic 6 http://purl.obolibrary.org/obo/MONDO_001273 aortic aneurysm, familial thoracic 7 http://purl.obolibrary.org/obo/MONDO_0013418 aortic aneurysm, familial thoracic 7 aortic valve disease 2 http://purl.obolibrary.org/obo/MONDO_0007194 familial bicuspid aortic valve aromatase deficiency http://purl.obolibrary.org/obo/MONDO_0013301 aromatase deficiency -arrhythmogenic cardiomyopathy with woolly hair and keratoderma http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma +arrhythmogenic cardiomyopathy with wooly hair and keratoderma http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma arrhythmogenic right ventricular dysplasia 10 http://purl.obolibrary.org/obo/MONDO_0012434 arrhythmogenic right ventricular dysplasia 10 arrhythmogenic right ventricular dysplasia 13 http://www.orpha.net/ORDO/Orphanet_247 Inherited arrhythmogenic cardiomyopathy arrhythmogenic right ventricular dysplasia 5 http://purl.obolibrary.org/obo/MONDO_0011459 arrhythmogenic right ventricular dysplasia 5 @@ -63,6 +63,7 @@ autosomal dominant slowed nerve conduction velocity http://purl.obolibrary.org/o autosomal recessive ataxia, beauce type http://purl.obolibrary.org/obo/MONDO_0012549 autosomal recessive ataxia, beauce type autosomal recessive congenital ichthyosis 5 http://purl.obolibrary.org/obo/MONDO_0017778 lamellar ichthyosis autosomal recessive distal spinal muscular atrophy 1 http://purl.obolibrary.org/obo/MONDO_0011436 autosomal recessive distal spinal muscular atrophy 1 +autosomal recessive inherited pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0009925 autosomal recessive inherited pseudoxanthoma elasticum autosomal recessive limb-girdle muscular dystrophy type 2b http://purl.obolibrary.org/obo/MONDO_0009676 autosomal recessive limb-girdle muscular dystrophy type 2b autosomal recessive limb-girdle muscular dystrophy type 2j http://purl.obolibrary.org/obo/MONDO_0012127 autosomal recessive limb-girdle muscular dystrophy type 2j autosomal recessive limb-girdle muscular dystrophy type 2q http://purl.obolibrary.org/obo/MONDO_0013390 autosomal recessive limb-girdle muscular dystrophy type 2q @@ -81,14 +82,13 @@ bardet-biedl syndrome http://purl.obolibrary.org/obo/MONDO_0015229 bardet-biedl bardet-biedl syndrome 10 http://www.ebi.ac.uk/efo/EFO_0009022 bardet-biedl syndrome 10 bardet-biedl syndrome 14 http://purl.obolibrary.org/obo/MONDO_0014442 bardet-biedl syndrome 14 bardet-biedl syndrome 2 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome -bartsocas-papas syndrome http://purl.obolibrary.org/obo/MONDO_0009901 Bartsocas-Papas syndrome 1 +bartsocas-papas syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009901 bartsocas-papas syndrome 1 becker muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010311 becker muscular dystrophy beckwith-wiedemann syndrome http://purl.obolibrary.org/obo/MONDO_0007534 beckwith-wiedemann syndrome biotinidase deficiency http://purl.obolibrary.org/obo/MONDO_0009665 biotinidase deficiency -blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome bloom syndrome http://purl.obolibrary.org/obo/MONDO_0008876 bloom syndrome -borjeson-forssman-lehmann syndrome http://purl.obolibrary.org/obo/MONDO_0010537 borjeson-forssman-lehmann syndrome breast and/or ovarian cancer http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome +breast ductal adenocarcinoma http://www.ebi.ac.uk/efo/EFO_0006318 breast ductal adenocarcinoma breast neoplasm http://www.ebi.ac.uk/efo/EFO_0003869 breast neoplasm breast-ovarian cancer, familial, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0011450 breast-ovarian cancer, familial, susceptibility to, 1 breast-ovarian cancer, familial, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0012933 breast-ovarian cancer, familial, susceptibility to, 2 @@ -113,7 +113,6 @@ cataract 18 http://www.orpha.net/ORDO/Orphanet_98992 Early-onset partial catarac cataract 6 multiple types http://purl.obolibrary.org/obo/MONDO_0011060 early-onset non-syndromic cataract cataract 6 multiple types http://www.orpha.net/ORDO/Orphanet_98993 Early-onset posterior polar cataract cataract 6 multiple types http://www.orpha.net/ORDO/Orphanet_98994 Total early-onset cataract -catecholaminergic polymorphic ventricular tachycardia http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia charcot-marie-tooth disease http://purl.obolibrary.org/obo/MONDO_0015626 charcot-marie-tooth disease charcot-marie-tooth disease axonal type 2o http://purl.obolibrary.org/obo/MONDO_0013644 charcot-marie-tooth disease axonal type 2o charcot-marie-tooth disease axonal type 2s http://purl.obolibrary.org/obo/MONDO_0014511 charcot-marie-tooth disease axonal type 2s @@ -166,10 +165,8 @@ costello syndrome http://purl.obolibrary.org/obo/MONDO_0009026 costello syndrome cowden syndrome 6 http://purl.obolibrary.org/obo/MONDO_0014048 cowden syndrome 6 cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia craniometaphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0015465 craniometaphyseal dysplasia -cutis laxa, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0007411 cutis laxa, autosomal dominant 1 cutis laxa, x-linked http://purl.obolibrary.org/obo/MONDO_0010572 occipital horn syndrome cystic fibrosis http://purl.obolibrary.org/obo/MONDO_0009061 cystic fibrosis -cytochrome-c oxidase deficiency disease http://purl.obolibrary.org/obo/MONDO_0009068 cytochrome-c oxidase deficiency disease deficiency of ferroxidase http://purl.obolibrary.org/obo/MONDO_0011426 aceruloplasminemia deficiency of malonyl-coa decarboxylase http://purl.obolibrary.org/obo/MONDO_0009556 malonic aciduria deficiency of udpglucose-hexose-1-phosphate uridylyltransferase http://purl.obolibrary.org/obo/MONDO_0009258 classic galactosemia @@ -191,7 +188,7 @@ developmental and epileptic encephalopathy, 53 http://purl.obolibrary.org/obo/MO developmental and epileptic encephalopathy, 7 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 8 http://purl.obolibrary.org/obo/MONDO_0010375 developmental and epileptic encephalopathy, 8 diamond-blackfan anemia 10 http://www.orpha.net/ORDO/Orphanet_124 Diamond-Blackfan anemia -dicer1 syndrome http://purl.obolibrary.org/obo/MONDO_0100216 DICER1-related tumor predisposition +dicer1-related tumor predisposition http://purl.obolibrary.org/obo/MONDO_0100216 dicer1-related tumor predisposition digeorge syndrome http://purl.obolibrary.org/obo/MONDO_0018923 22q11.2 deletion syndrome dilated cardiomyopathy 1d http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction dilated cardiomyopathy 1dd http://purl.obolibrary.org/obo/MONDO_0013168 dilated cardiomyopathy 1dd @@ -203,9 +200,7 @@ dilated cardiomyopathy 1w http://purl.obolibrary.org/obo/MONDO_0012667 dilated c dilated cardiomyopathy, dominant http://www.ebi.ac.uk/efo/EFO_0009142 autosomal dominant dilated cardiomyopathy dock2 deficiency http://purl.obolibrary.org/obo/MONDO_0014637 dock2 deficiency duchenne muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010679 duchenne muscular dystrophy -ductal breast carcinoma http://www.ebi.ac.uk/efo/EFO_0006318 breast ductal adenocarcinoma dyrk1a-related intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0013578 dyrk1a-related intellectual disability syndrome -dyskeratosis congenita, autosomal dominant 2 http://purl.obolibrary.org/obo/MONDO_0013521 dyskeratosis congenita, autosomal dominant 2 dyskeratosis congenita, autosomal recessive 5 http://purl.obolibrary.org/obo/MONDO_0014076 dyskeratosis congenita, autosomal recessive 5 dystonic disorder http://purl.obolibrary.org/obo/MONDO_0003441 dystonic disorder dystrophin deficiency http://purl.obolibrary.org/obo/MONDO_0016147 qualitative or quantitative defects of dystrophin @@ -222,7 +217,6 @@ ehlers-danlos syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0017314 Ehle ellis-van creveld syndrome http://purl.obolibrary.org/obo/MONDO_0009162 ellis-van creveld syndrome emery-dreifuss muscular dystrophy 4, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0013071 emery-dreifuss muscular dystrophy 4, autosomal dominant emery-dreifuss muscular dystrophy 5, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy -endometrial carcinoma http://www.ebi.ac.uk/efo/EFO_1001512 endometrial carcinoma enhanced s-cone syndrome http://purl.obolibrary.org/obo/MONDO_0100288 enhanced s-cone syndrome epidermodysplasia verruciformis http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency http://purl.obolibrary.org/obo/MONDO_0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency @@ -240,6 +234,7 @@ exostoses, multiple, type 2 http://purl.obolibrary.org/obo/MONDO_0007586 exostos exudative vitreoretinopathy 1 http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy factor v deficiency http://purl.obolibrary.org/obo/MONDO_0020586 factor v deficiency familial adenomatous polyposis 1 http://purl.obolibrary.org/obo/MONDO_0021056 familial adenomatous polyposis 1 +familial aplasia of the vermis http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome familial cancer of breast http://purl.obolibrary.org/obo/MONDO_0016419 hereditary breast carcinoma familial cold autoinflammatory syndrome 3 http://purl.obolibrary.org/obo/MONDO_0013766 familial cold autoinflammatory syndrome 3 familial dysautonomia http://www.orpha.net/ORDO/Orphanet_1764 familial dysautonomia @@ -263,13 +258,11 @@ fanconi anemia complementation group j http://purl.obolibrary.org/obo/MONDO_0012 fanconi anemia complementation group o http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia farber lipogranulomatosis http://purl.obolibrary.org/obo/MONDO_0009218 farber lipogranulomatosis fetal akinesia deformation sequence 1 http://purl.obolibrary.org/obo/MONDO_0100101 fetal akinesia deformation sequence 1 -fg syndrome 1 http://purl.obolibrary.org/obo/MONDO_0010590 fg syndrome 1 fibromuscular dysplasia, multifocal http://purl.obolibrary.org/obo/MONDO_0859151 fibromuscular dysplasia, multifocal fragile x syndrome http://purl.obolibrary.org/obo/MONDO_0010383 fragile x syndrome frontometaphyseal dysplasia http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia frontometaphyseal dysplasia http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia frontotemporal dementia and/or amyotrophic lateral sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 -fumarase deficiency http://purl.obolibrary.org/obo/MONDO_0011730 fumaric aciduria galactosylceramide beta-galactosidase deficiency http://purl.obolibrary.org/obo/MONDO_0009499 Krabbe disease generalized epilepsy with febrile seizures plus, type 2 http://purl.obolibrary.org/obo/MONDO_0011461 generalized epilepsy with febrile seizures plus, type 2 generalized epilepsy with febrile seizures plus, type 7 http://purl.obolibrary.org/obo/MONDO_0013470 generalized epilepsy with febrile seizures plus, type 7 @@ -310,7 +303,6 @@ hermansky-pudlak syndrome 5 http://purl.obolibrary.org/obo/MONDO_0019312 Hermans herpes simplex encephalitis, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013920 herpes simplex encephalitis, susceptibility to, 3 herpes simplex encephalitis, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0013921 herpes simplex encephalitis, susceptibility to, 4 heterotopia, periventricular, x-linked dominant http://purl.obolibrary.org/obo/MONDO_0010233 heterotopia, periventricular, x-linked dominant -history of neurodevelopmental disorder http://www.ebi.ac.uk/efo/EFO_0021798 history of neurodevelopmental disorder holoprosencephaly 5 http://purl.obolibrary.org/obo/MONDO_0012322 holoprosencephaly 5 holoprosencephaly sequence http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly hyperaldosteronism, familial, type iv http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism @@ -337,7 +329,6 @@ hypogonadotropic hypogonadism 3 with or without anosmia http://purl.obolibrary.o hypokalemic periodic paralysis, type 1 http://purl.obolibrary.org/obo/MONDO_0042979 hypokalemic periodic paralysis, type 1 hypokalemic periodic paralysis, type 2 http://purl.obolibrary.org/obo/MONDO_0008223 hypokalemic periodic paralysis idiopathic generalized epilepsy http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy -idiopathic pulmonary fibrosis http://www.ebi.ac.uk/efo/EFO_0000768 idiopathic pulmonary fibrosis immunodeficiency http://purl.obolibrary.org/obo/HP_0002721 immunodeficiency immunodeficiency 19 http://purl.obolibrary.org/obo/MONDO_0014280 immunodeficiency 19 immunodeficiency 23 http://purl.obolibrary.org/obo/MONDO_0014353 immunodeficiency 23 @@ -363,7 +354,6 @@ isolated focal non-epidermolytic palmoplantar keratoderma http://www.orpha.net/O isolated neonatal sclerosing cholangitis http://www.ebi.ac.uk/efo/EFO_0004268 sclerosing cholangitis isolated thoracic aortic aneurysm http://www.ebi.ac.uk/efo/EFO_0004282 thoracic aortic aneurysm jeune thoracic dystrophy http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome -joubert syndrome http://purl.obolibrary.org/obo/MONDO_0018772 joubert syndrome joubert syndrome 2 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 25 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 38 http://purl.obolibrary.org/obo/MONDO_0030353 joubert syndrome 38 @@ -414,6 +404,7 @@ microcephaly, normal intelligence and immunodeficiency http://purl.obolibrary.or microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome http://www.ebi.ac.uk/efo/EFO_0009647 epilepsy, hearing loss, and intellectual disability syndrome migraine, familial hemiplegic, 3 http://purl.obolibrary.org/obo/MONDO_0012320 migraine, familial hemiplegic, 3 mitochondrial complex i deficiency, nuclear type 1 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex iv deficiency, nuclear type 1 http://purl.obolibrary.org/obo/MONDO_0859160 mitochondrial complex IV deficiency, nuclear type 22 monogenic diabetes http://www.ebi.ac.uk/efo/EFO_1001511 monogenic diabetes mucopolysaccharidosis type 6 http://purl.obolibrary.org/obo/MONDO_0009661 mucopolysaccharidosis type 6 mucopolysaccharidosis type 7 http://purl.obolibrary.org/obo/MONDO_0009662 mucopolysaccharidosis type 7 @@ -437,7 +428,6 @@ nephronophthisis http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis nephronophthisis 15 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis nephrotic syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome -netherton syndrome http://purl.obolibrary.org/obo/MONDO_0009735 netherton syndrome neu-laxova syndrome 2 http://purl.obolibrary.org/obo/MONDO_0014466 neu-laxova syndrome 2 neuroblastoma, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0700041 neuroblastoma, susceptibility to, 2 neuroblastoma, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013083 neuroblastoma, susceptibility to, 3 @@ -477,12 +467,11 @@ peroxisome biogenesis disorder 5a (zellweger) http://purl.obolibrary.org/obo/MON peroxisome biogenesis disorder 5a (zellweger) http://purl.obolibrary.org/obo/MONDO_0013932 peroxisome biogenesis disorder 5a (zellweger) perry syndrome http://purl.obolibrary.org/obo/MONDO_0008201 perry syndrome peutz-jeghers syndrome http://purl.obolibrary.org/obo/MONDO_0008280 peutz-jeghers syndrome -pgm1-cdg http://purl.obolibrary.org/obo/MONDO_0013968 PGM1-congenital disorder of glycosylation +pgm1-congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0013968 pgm1-congenital disorder of glycosylation pharc syndrome http://purl.obolibrary.org/obo/MONDO_0012984 pharc syndrome phgdh deficiency http://purl.obolibrary.org/obo/MONDO_0011152 phgdh deficiency pierpont syndrome http://purl.obolibrary.org/obo/MONDO_0011213 pierpont syndrome pigmentary retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0007639 fundus albipunctatus -pineal hyperplasia and diabetes mellitus syndrome http://purl.obolibrary.org/obo/MONDO_0009874 Rabson-Mendenhall syndrome pitt-hopkins syndrome http://purl.obolibrary.org/obo/MONDO_0012589 pitt-hopkins syndrome pituitary stalk interruption syndrome http://purl.obolibrary.org/obo/MONDO_0019828 pituitary stalk interruption syndrome pityriasis rubra pilaris http://purl.obolibrary.org/obo/MONDO_0100017 pityriasis rubra pilaris @@ -507,12 +496,12 @@ prolidase deficiency http://purl.obolibrary.org/obo/MONDO_0008221 prolidase defi propionic acidemia http://purl.obolibrary.org/obo/MONDO_0011628 propionic acidemia prostate cancer, hereditary, 1 http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer protoporphyria, erythropoietic, 1 http://purl.obolibrary.org/obo/MONDO_0019263 autosomal erythropoietic protoporphyria -pseudoxanthoma elasticum http://www.orpha.net/ORDO/Orphanet_758 pseudoxanthoma elasticum psoriasis 2 http://purl.obolibrary.org/obo/MONDO_0011269 psoriasis 2 pten hamartoma tumor syndrome http://purl.obolibrary.org/obo/MONDO_0017623 pten hamartoma tumor syndrome pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 http://purl.obolibrary.org/obo/MONDO_0014613 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/MONDO_0024533 pulmonary hypertension, primary, 1 pyogenic bacterial infections due to myd88 deficiency http://purl.obolibrary.org/obo/MONDO_0012839 pyogenic bacterial infections due to myd88 deficiency +rabson-mendenhall syndrome http://purl.obolibrary.org/obo/MONDO_0009874 rabson-mendenhall syndrome rasopathy http://www.ebi.ac.uk/efo/EFO_1001502 rasopathy renal cell carcinoma http://www.ebi.ac.uk/efo/EFO_0000681 renal cell carcinoma retinal degeneration http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration @@ -536,7 +525,6 @@ saldino-mainzer syndrome http://purl.obolibrary.org/obo/MONDO_0009964 short-rib schimke immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0009458 schimke immuno-osseous dysplasia schnyder crystalline corneal dystrophy http://purl.obolibrary.org/obo/MONDO_0007374 Schnyder corneal dystrophy schwartz-jampel syndrome http://purl.obolibrary.org/obo/MONDO_0009717 schwartz-jampel syndrome -seizure http://purl.obolibrary.org/obo/HP_0001250 seizure seizures, benign familial infantile, 3 http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures septo-optic dysplasia sequence http://purl.obolibrary.org/obo/MONDO_0008428 septooptic dysplasia septo-optic dysplasia sequence http://www.orpha.net/ORDO/Orphanet_3157 Septo-optic dysplasia spectrum @@ -549,7 +537,7 @@ short rib-polydactyly syndrome http://purl.obolibrary.org/obo/MONDO_0015461 shor short stature http://purl.obolibrary.org/obo/HP_0004322 short stature singleton-merten syndrome 1 http://purl.obolibrary.org/obo/MONDO_0024535 singleton-merten syndrome 1 skeletal dysplasia, mild, with joint laxity and advanced bone age http://purl.obolibrary.org/obo/MONDO_0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age -sotos syndrome 1 http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome +sotos syndrome http://purl.obolibrary.org/obo/MONDO_0019349 sotos syndrome spastic ataxia 2 http://purl.obolibrary.org/obo/MONDO_0012651 spastic ataxia 2 spastic paraplegia http://purl.obolibrary.org/obo/HP_0001258 spastic paraplegia spastic paraplegia-severe developmental delay-epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome @@ -568,7 +556,7 @@ teebi hypertelorism syndrome 1 http://purl.obolibrary.org/obo/MONDO_0800025 teeb telangiectasia, hereditary hemorrhagic, type 1 http://purl.obolibrary.org/obo/MONDO_0008535 telangiectasia, hereditary hemorrhagic, type 1 thrombophilia due to protein c deficiency, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019145 hereditary thrombophilia due to congenital protein C deficiency tibial muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010870 tibial muscular dystrophy -toe walking http://purl.obolibrary.org/obo/HP_0030051 Tip-toe gait +tip-toe gait http://purl.obolibrary.org/obo/HP_0030051 tip-toe gait tooth agenesis, selective, 3 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis tp63-related spectrum disorders http://www.ebi.ac.uk/efo/EFO_0022486 tp63-related spectrum disorders transcobalamin ii deficiency http://purl.obolibrary.org/obo/MONDO_0010149 transcobalamin ii deficiency @@ -685,6 +673,7 @@ apolipoprotein a-i deficiency http://purl.obolibrary.org/obo/MONDO_0100189 apoli arginase deficiency http://www.orpha.net/ORDO/Orphanet_90 Argininemia armc9-related joubert syndrome http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome arrhythmia http://www.ebi.ac.uk/efo/EFO_0004269 cardiac arrhythmia +arrhythmogenic cardiomyopathy with woolly hair and keratoderma http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma arrhythmogenic right ventricular cardiomyopathy http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy arrhythmogenic right ventricular cardiomyopathy, type 10 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy arrhythmogenic right ventricular cardiomyopathy, type 11 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy @@ -764,14 +753,17 @@ bare lymphocyte syndrome type 1 http://www.orpha.net/ORDO/Orphanet_572 Immunodef bare lymphocyte syndrome type 2, complementation group e http://www.orpha.net/ORDO/Orphanet_572 Immunodeficiency by defective expression of MHC class II bare lymphocyte syndrome, type ii, complementation group b http://www.orpha.net/ORDO/Orphanet_572 Immunodeficiency by defective expression of MHC class II bare lymphocyte syndrome, type ii, complementation group d http://www.orpha.net/ORDO/Orphanet_572 Immunodeficiency by defective expression of MHC class II +bartsocas-papas syndrome http://purl.obolibrary.org/obo/MONDO_0009901 Bartsocas-Papas syndrome becker muscular dystrophy, atypical http://purl.obolibrary.org/obo/MONDO_0010311 Becker muscular dystrophy benign familial neonatal-infantile seizures http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures benign scapuloperoneal muscular dystrophy with cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy bh4-deficient hyperphenylalaninemia a http://www.orpha.net/ORDO/Orphanet_13 6-pyruvoyl-tetrahydropterin synthase deficiency bile acid malabsorption, primary http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency blepharophimosis, ptosis, and epicanthus inversus http://www.orpha.net/ORDO/Orphanet_126 Blepharophimosis-ptosis-epicanthus inversus syndrome +blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 http://www.orpha.net/ORDO/Orphanet_126 Blepharophimosis-ptosis-epicanthus inversus syndrome blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 http://www.orpha.net/ORDO/Orphanet_126 Blepharophimosis-ptosis-epicanthus inversus syndrome blue sclerae http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome +borjeson-forssman-lehmann syndrome http://purl.obolibrary.org/obo/MONDO_0010537 Borjeson-Forssman-Lehmann syndrome breast cancer http://www.ebi.ac.uk/efo/EFO_0000305 breast carcinoma breast cancer, early-onset http://www.ebi.ac.uk/efo/EFO_0000305 breast carcinoma breast-ovarian cancer, familial 1 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and ovarian cancer syndrome @@ -841,6 +833,7 @@ cataract, congenital nuclear, autosomal recessive 2 http://www.orpha.net/ORDO/Or cataract, congenital nuclear, autosomal recessive 3 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract cataract, congenital zonular, with sutural opacities http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract cataract, posterior polar, 3 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +catecholaminergic polymorphic ventricular tachycardia http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia catecholaminergic polymorphic ventricular tachycardia 1 http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia catecholaminergic polymorphic ventricular tachycardia 2 http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia catecholaminergic polymorphic ventricular tachycardia 3 http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia @@ -979,9 +972,11 @@ cranioectodermal dysplasia 4 http://purl.obolibrary.org/obo/MONDO_0009032 cranio craniometaphyseal dysplasia, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0015465 craniometaphyseal dysplasia crohn disease http://www.ebi.ac.uk/efo/EFO_0000384 Crohn's disease cutis laxa, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa +cutis laxa, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa cutis laxa, autosomal dominant 2 http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa cutis laxa, autosomal dominant 3 http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa cystic parathyroid adenoma http://www.ebi.ac.uk/efo/EFO_1001087 parathyroid adenoma +cytochrome-c oxidase deficiency disease http://purl.obolibrary.org/obo/MONDO_0009068 cytochrome-c oxidase deficiency disease dandy-walker like malformation with atrioventricular septal defect http://www.orpha.net/ORDO/Orphanet_7 3C syndrome de lange syndrome http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome deafness http://www.ebi.ac.uk/efo/EFO_0001063 deafness @@ -1114,6 +1109,7 @@ diamond-blackfan anemia 7 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamon diamond-blackfan anemia 8 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia diamond-blackfan anemia 9 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia diamond-blackfan anemia-like http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +dicer1 syndrome http://www.ebi.ac.uk/efo/EFO_0009068 dicer1 syndrome dicer1-related pleuropulmonary blastoma cancer predisposition syndrome http://www.ebi.ac.uk/efo/EFO_0009068 dicer1 syndrome diffuse nonepidermolytic palmoplantar keratoderma http://www.orpha.net/ORDO/Orphanet_2337 Non-epidermolytic palmoplantar keratoderma digeorge sequence http://www.orpha.net/ORDO/Orphanet_567 22q11.2 deletion syndrome @@ -1148,6 +1144,7 @@ distal myopathy with rimmed vacuoles http://www.orpha.net/ORDO/Orphanet_602 GNE duane syndrome type 2 http://www.orpha.net/ORDO/Orphanet_233 Duane retraction syndrome duane syndrome type 3 http://www.orpha.net/ORDO/Orphanet_233 Duane retraction syndrome dysgnathia complex http://www.orpha.net/ORDO/Orphanet_990 Agnathia-holoprosencephaly-situs inversus syndrome +dyskeratosis congenita, autosomal dominant 2 http://purl.obolibrary.org/obo/MONDO_0013521 dyskeratosis congenita, autosomal dominant 2 dystonia http://purl.obolibrary.org/obo/HP_0001332 Dystonia dystonia 5 http://purl.obolibrary.org/obo/HP_0001332 Dystonia early infantile epileptic encephalopathy http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy @@ -1184,6 +1181,7 @@ emery-dreifuss muscular dystrophy 2, autosomal dominant http://www.orpha.net/ORD emery-dreifuss muscular dystrophy 3, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy emery-dreifuss muscular dystrophy 6 http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy emery-dreifuss muscular dystrophy 7, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0020336 autosomal dominant Emery-Dreifuss muscular dystrophy +endometrial carcinoma http://www.ebi.ac.uk/efo/EFO_0004230 endometrial neoplasm endometrial neoplasm http://www.ebi.ac.uk/efo/EFO_0004230 endometrial neoplasm endplate acetylcholinesterase deficiency http://www.orpha.net/ORDO/Orphanet_98915 Synaptic congenital myasthenic syndromes epidermodysplasia verruciformis, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis @@ -1337,6 +1335,7 @@ fanconi anemia, complementation group m http://purl.obolibrary.org/obo/MONDO_001 farber disease http://www.orpha.net/ORDO/Orphanet_333 Farber disease fetal akinesia sequence http://www.orpha.net/ORDO/Orphanet_994 Fetal akinesia deformation sequence fg syndrome http://www.ebi.ac.uk/efo/EFO_0009297 fg syndrome +fg syndrome 1 http://www.ebi.ac.uk/efo/EFO_0009297 fg syndrome fg syndrome 2 http://www.ebi.ac.uk/efo/EFO_0009297 fg syndrome focal segmental glomerulosclerosis 3, susceptibility to http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome focal segmental glomerulosclerosis 4, susceptibility to http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome @@ -1344,6 +1343,7 @@ focal seizures http://purl.obolibrary.org/obo/HP_0001250 Seizure friedreich's ataxia http://www.orpha.net/ORDO/Orphanet_95 Friedreich ataxia frontometaphyseal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia frontometaphyseal dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia +fumarase deficiency http://purl.obolibrary.org/obo/MONDO_0011730 fumaric aciduria galactosemia http://purl.obolibrary.org/obo/MONDO_0009258 classic galactosemia generalized epilepsy http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy generalized epilepsy with atypical absence and tonic/myoclonic seizures http://www.ebi.ac.uk/efo/EFO_1001900 myoclonic epilepsy @@ -1433,6 +1433,7 @@ hypomyelinating leukodystrophy 7 http://www.orpha.net/ORDO/Orphanet_289494 4H le hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy idiopathic fibrosing alveolitis, chronic form http://www.ebi.ac.uk/efo/EFO_0000768 idiopathic pulmonary fibrosis idiopathic pulmonary arterial hypertension http://purl.obolibrary.org/obo/MONDO_0017147 idiopathic pulmonary arterial hypertension +idiopathic pulmonary fibrosis http://www.ebi.ac.uk/efo/EFO_0000768 idiopathic pulmonary fibrosis immune dysfunction with t-cell inactivation due to calcium entry defect 1 http://www.orpha.net/ORDO/Orphanet_169090 Combined immunodeficiency due to CRAC channel dysfunction immune dysfunction with t-cell inactivation due to calcium entry defect 2 http://www.orpha.net/ORDO/Orphanet_169090 Combined immunodeficiency due to CRAC channel dysfunction immune dysfunction with t-cell inactivation due to calcium entry defect 2 http://www.orpha.net/ORDO/Orphanet_317430 Combined immunodeficiency due to STIM1 deficiency @@ -1474,6 +1475,7 @@ interstitial pulmonary abnormality http://www.ebi.ac.uk/efo/EFO_0004244 intersti intractable seizure http://purl.obolibrary.org/obo/HP_0001250 Seizure isolated ectopia lentis http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis johanson-blizzard syndrome http://www.ebi.ac.uk/efo/EFO_0001063 deafness +joubert syndrome http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 1 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 10 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome joubert syndrome 12 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome @@ -1821,6 +1823,7 @@ nephrotic syndrome type 15 http://www.orpha.net/ORDO/Orphanet_656 Genetic steroi nephrotic syndrome, idiopathic, steroid-resistant http://www.orpha.net/ORDO/Orphanet_656 Genetic steroid-resistant nephrotic syndrome nephrotic syndrome, type 20 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome nephrotic syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome +netherton syndrome http://purl.obolibrary.org/obo/MONDO_0009735 Netherton syndrome neu-laxova syndrome 1 http://purl.obolibrary.org/obo/MONDO_0000179 Neu-Laxova syndrome neuroblastoma http://www.ebi.ac.uk/efo/EFO_0000621 neuroblastoma neuroblastoma 1 http://www.ebi.ac.uk/efo/EFO_0000621 neuroblastoma @@ -1934,8 +1937,10 @@ peroxisome biogenesis disorder 8b http://www.orpha.net/ORDO/Orphanet_79189 Perox peroxisome biogenesis disorders http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder peroxisome biogenesis disorders, zellweger syndrome spectrum http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder persistent hyperinsulinemic hypoglycemia of infancy http://www.orpha.net/ORDO/Orphanet_657 Congenital isolated hyperinsulinism +pgm1-cdg http://purl.obolibrary.org/obo/MONDO_0013968 PGM1-CDG phosphoglycerate dehydrogenase deficiency http://www.orpha.net/ORDO/Orphanet_79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form pili torti-deafness syndrome http://www.orpha.net/ORDO/Orphanet_123 Björnstad syndrome +pineal hyperplasia and diabetes mellitus syndrome http://purl.obolibrary.org/obo/MONDO_0009874 Rabson-Mendenhall syndrome pitt-hopkins-like syndrome 1 http://www.orpha.net/ORDO/Orphanet_221150 OBSOLETE: Pitt-Hopkins-like syndrome polg-related spectrum disorders http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder polg2-related spectrum disorders http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder @@ -1991,6 +1996,7 @@ prostate cancer, somatic http://www.ebi.ac.uk/efo/EFO_0001663 prostate carcinoma prostate cancer/brain cancer susceptibility http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer protoporphyria, erythropoietic, 2 http://purl.obolibrary.org/obo/MONDO_0060729 protoporphyria, erythropoietic, 2 proximal muscle weakness http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia +pseudoxanthoma elasticum http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum pseudoxanthoma elasticum, forme fruste http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum psoriasis http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis psoriasis susceptibility 1 http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis @@ -2107,6 +2113,7 @@ ryr1-related disorder http://www.ebi.ac.uk/efo/EFO_0009143 ryr1-related disorder schimke immunoosseous dysplasia http://www.orpha.net/ORDO/Orphanet_1830 Schimke immuno-osseous dysplasia schwartz-jampel syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0009717 Schwartz-Jampel syndrome sclerosing cholangitis, neonatal http://www.ebi.ac.uk/efo/EFO_0004268 sclerosing cholangitis +seizure http://purl.obolibrary.org/obo/HP_0001250 Seizure seizures http://purl.obolibrary.org/obo/HP_0001250 Seizure seizures, benign familial infantile, 2 http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures seizures, benign familial infantile, 5 http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures @@ -2140,7 +2147,7 @@ short-rib thoracic dysplasia 7 with or without polydactyly http://www.orpha.net/ short-rib thoracic dysplasia 8 with or without polydactyly http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type singleton-merten syndrome 2 http://purl.obolibrary.org/obo/MONDO_0008429 Singleton-Merten dysplasia solitary median maxillary central incisor syndrome http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly -sotos syndrome http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome +sotos syndrome 1 http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome sotos syndrome 3 http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome spastic ataxia 5, autosomal recessive http://www.orpha.net/ORDO/Orphanet_316240 Autosomal recessive spastic ataxia spastic ataxia charlevoix-saguenay type http://www.orpha.net/ORDO/Orphanet_98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay @@ -2193,6 +2200,7 @@ thrombophilia due to protein c deficiency, autosomal recessive http://purl.oboli thrombophilia, hereditary, due to protein c deficiency, autosomal dominant http://www.orpha.net/ORDO/Orphanet_745 Severe hereditary thrombophilia due to congenital protein C deficiency thrombophilia, hereditary, due to protein c deficiency, autosomal recessive http://www.orpha.net/ORDO/Orphanet_745 Severe hereditary thrombophilia due to congenital protein C deficiency thyroid dyshormonogenesis 1 http://www.orpha.net/ORDO/Orphanet_95716 Familial thyroid dyshormonogenesis +toe walking http://purl.obolibrary.org/obo/HP_0030051 Tip-toe gait tooth agenesis http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis tooth agenesis, selective, 4 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis tooth agenesis, selective, 7 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis diff --git a/tests/pipelines/resources/input.xml.gz b/tests/pipelines/resources/input.xml.gz index 12f6c458..2c50035c 100644 Binary files a/tests/pipelines/resources/input.xml.gz and b/tests/pipelines/resources/input.xml.gz differ diff --git a/tests/trait_mapping/resources/sample.xml.gz b/tests/trait_mapping/resources/sample.xml.gz index f7898c55..a138fabd 100644 Binary files a/tests/trait_mapping/resources/sample.xml.gz and b/tests/trait_mapping/resources/sample.xml.gz differ