{"accession": {"accession": "VCV000000536", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000000566", "version": 4}, "title": "NM_001142800.1(EYS):c.1767-24596_2023+238135del AND Retinitis pigmentosa 25", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2008-11-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_001142800.1(EYS):c.1767-24596_2023+238135del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2008-11-01T00:00:00Z", "dateCreated": "2017-08-13T00:00:00Z", "mostRecentSubmission": "2017-08-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "start": 65767621, "stop": 66030608, "displayStart": 65767621, "displayStop": 66030608, "variantLength": 262988}, "hgncIds": ["HGNC:21555"]}
{"accession": {"accession": "VCV000000174", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000000197", "version": 3}, "title": "NC_000010.11:g.(124404664_124404669)_(124404736_124405741)del AND Ornithine aminotransferase deficiency", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "1992-06-25T00:00:00Z", "submissionCount": 1}}}}], "name": "NC_000010.11:g.(124404664_124404669)_(124404736_124405741)del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "1992-06-25T00:00:00Z", "dateCreated": "2018-02-04T00:00:00Z", "mostRecentSubmission": "2018-02-04T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_10", "accession": "NC_000010.10", "outerStart": 126093233, "innerStart": 126093238, "innerStop": 126093305, "outerStop": 126094310, "displayStart": 126093233, "displayStop": 126094310, "variantLength": 68}, "hgncIds": ["HGNC:8091"]}
{"accession": {"accession": "VCV000002119", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000002200", "version": 3}, "title": "NM_003477.3(PDHX):c.1183-3088_1247+760del AND Pyruvate dehydrogenase E3-binding protein deficiency", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2006-04-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_003477.3(PDHX):c.1183-3088_1247+760del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2006-04-01T00:00:00Z", "dateCreated": "2015-01-10T00:00:00Z", "mostRecentSubmission": "2015-01-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_11", "accession": "NC_000011.9", "start": 35010771, "stop": 35014683, "displayStart": 35010771, "displayStop": 35014683, "variantLength": 3913, "positionVcf": 35010770, "referenceAlleleVcf": "GACCACTGTCATATATTTATGTCTTTGTCTTAAGTGTCCTTATGCGGCACATGACTGCATGTATAGAGTTCAGTACTATCTGCCATTTCAGGCACCTACTGTGGGTCTTTGAAGTATCCCCTGCAGATAAGGGGGGACTACTGTATGCAACTGGGAGAAAAAAAGGGTTAAGAAAGAAGAGACCTGAGTCAAACGGGAGAGTACTCTGCCAAAGAAGCAGTGAAGATTCCCCGAGGAATGTGAGGTTGTGGTCTTAGCAAGTAGGCAGTGGATAAGAGAACCTGCAGCAAAGAAACCAAGGCTCTCTACCTGGTGAGGCAGGAGTAGTCTTTTTGAAAAGACTGTGGGATCATGGACAGGTTGAGCTCTGGATTCTCACTAAGAGACATACTATCCAGTACACACTTCCCTCTGATCGTCACTTGGCTGGCTTTTTTTCATCATTGGTTTCTCAGTTCAGTTGCTAATTTCTTAGGCCTTCTGCAGCTTCTGTAGCTGAAATAGTTTCCTAACACTCTTTATCTCATTACCCTGTTTTATTGTCTTCATATGGTTTATTAGTCTTTGAAATTACCTTGTTTATTTATTTGTTCACCCTTCTGTGTTCCCTACTGTCTGATGTTCACTGTCCATTGCCATTTATCTAATTCTAGAAGAGTGCTTGGGATACAGTAGTTGCTTGGTGAATTTATTTTAAAACAAATTTCAGTAAAACTTGTTTCATTGAAATTAATTTTTCAAGAGTTTGTGGCTCTCTGCAGATTCATCCATGAACCCCAAGTTAAGAATATCTGTACTACGCATTTACTTCTTGACCCTCTGTAATCCCAAGGATGCCACTGTGGGGGCTGTAGGCATACCCCAGCCAAGTTCAAGTTGGTATTCCTTGAATAAAGTAATGTAGTGACACACCTTGGATCCTGTGTTATTCTTAATTCTTCATTACTTATAACAGTATTAAAAGGCAGAGGCATAGTTTACCTTATAAGTACCCAGTAAATTTTTTTAATGAATAGCAAGGCATTCGATGTATTGTAGAAATATTTAGTGGTCATTTTTTATTCTTTCAGCTGGATGCTTCAGGTAACATGTACTTTGATTTTGAGTCCACATTGCCAGGAGATCCCAGTGATGATTACAAATTTATAAAACCAACGATCCTTCTCAGATTCCATACCTATTTCAGACTTACTAGAGTTCACTGACAGGAATTTCCTGTTGATGTATTTAGGATCTACAGAGTTTTTGTTTTTAGTATGTGTGCGTGCAATCTACTTATTAAAGTGAGTTTTTTTCATTTGTGGTAATTGTGTGGTAGTTCATCAGGATATGTTGAGATCATCTGCCTTTAAAAAATGCCTTTTAAAGTTCATATATGTGTCTTTTCAAATCATGTGAACAATTACATTGCTTAAGGGAGGAAAAATGCTTTTATAGATTATTCTCTCTCCCGTTATTCCAAGAACTGTATAAGTCAAAATTCATCTCATTTTTTACCTTGAATCCAAATAGTTTTATAAATAACCACATCCAAATAGCATACACCTGTAATTGTTTCTGTTGGCAGTACGTTACAGTAATGTGTTTTTAGATTTTTGATATTTTTAAAGACTTTCAATTTTAAAAAATTAAATCATCTATGAATTAAAGTTAGTTATCAACTGTGATTGTAATAGTGCCTATGTTGCCTATGTAATACAAAATATTAAGTAAATTCCACATTTATTTTATCTACCCAAATGACAGTGACCTCATTTTTCTGTACCCTTCCTCTTAAGTTAATTCGTTATTAATTTTTTATATATGATGACTCAACCTCTGTTCCCTTGCTTTTAAGCACTGAAAAATAAAAATTAACAGAAATGTGGTTAATTCCAAGTACAAGTGAGAGGAAAATTTAACTAATATGTCATCTGTCTTGTCTTCTGTAAGATTTTTAGAAATCGCTGTGGTCAAGAGTGATATGAATCAAGTACATCCTTATATTCCTTGTGGCAGTGTAAATTGGACTAGCTCATTCAGGAAATGATTTAGCTATAGGATCAAGAACCAAAAGAAGTCTATTCTCTAGGGCACTATAATTCCACTTCTGAAAATTTACCTGAAATAATTCAGAAGAAACCGTGAACCAAATTATAACACTGGGAAATAACCAAGTAAATTAGGCAGGTGCAGTCTTTAGGAACAAACATTAAAAAATCATTTCTGAAGGCTGACAACACAGAAGATACATATAATATTGAACAATTAAATATAAAATTTATTTTTTATAACCATTGTGTGGGGTTGAGATTGTGGATAAAGATGAAGCAAACTCTGAAAGATAAAAACGGAATGTTGGTTGTGGGATTGTGGGTATACTACTTTGGTTGCCATTGGATAATTTATTTAAAACACACAGATTGGCCAGGCATGGTGGCTCATACCTGTAATCCCACCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGTTCAGGAGTTGGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCTGGGCGTGGCGGTGGGTGCCTGAAATCTCAGCTACTCAGGACGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGATGGAGGTTGCAATAGGCCATAATCACACCACTGCACTCCAGCCAGGGCAACAGAGTGAGACTTCTCAAAAAAAAAAAAAAAAAAAAAACTAAAAAACACTAGATTGACCAGAATGGATTCTTGTATTTTTTTTCTTACCATAAAGTTTTATAGGCAAAATAGAAAATTTCATTTTGCATATAGGAAACTCTAAAGCATTTTGCATAATAATTGATGGTACACAGGGTAATTCCCACATTTGAAAAATTGTTAAAGGAAGTGATTTTTCTAGAGTTTTGATTAACAGCTTTAGTTTCTTGAATTATCTGTGCTCTTGTTTGTTCTTATAATTAGAGAAAATTATTTTTATATAGGTAACAAAATCAAATCAAGGCATATCAGAGATGAGAGTATATGATGTACAAATATTTCAAGTGACAAGATCAACTGTATAACATTTTGTTGGTTGTCCTATTCTGTTTGTATTTTTCTCAGGCTCTATCAAAGAAAGCAAGAGATGGAAAATTGTTGCCTGAAGAATACCAAGGAGGATCTTTTAGGTAAAATTTAAACTCTTAATTATCCATAGCATCAAACAGATAGATGTAAGACTTATAAAGTCCCTGTCAGCCTTTCATTTATCTGAAATATTTTTTAAAATTTAAGCTAAAAATACTTTATTTAGACAATAGAATATCTGAAAAAATTCTTCAGACTAGTCAGGCTTTCATATTAAAGCTAGTAGGAACCTATTAGTGTTGAACTAAACGTTCGTTGGACATTGACTAACATGGAATGATAAATATTATGTATTCTTTAGTATCTGACCCACCCCCAATATTAATGTCTGTAATATTATATTGCTATGTGAAACAACCACTTATTTATTATTGCAGCATATAATATTCTATTGTATAAATATACCAGAATTCATTTTACTGTTGGTGGGCATTTGCGTTGCTTCCAGTTCGGGGCTATTACAAATTATGGTGCTATGAACATTCTTATTAGTGTCTTATAGTGAATGTATGTACATTTTTTGTTGTATAGACCTAAAAGTAGAATTCCTAAGTTAGAAGCTTTAGCAGCTACTACCAAACAATTTTCCAAATGGTTATACAAATTTACACCTCCACCAACGGTCCTGAGAATTCCCATTGCTCCACATTCTTGCCACTATTTAATAATGTTAGGTTTTAAATTTTAACAATTCTTGGGGTGTGTAGTGGTACTCTTTGTAGGAAAATGCAAATTAGTGATGTTGAGTACTTTTCACTCATCAGCCGTTTGGGTATCTGGTAATTCATGAGATAAAGT", "alternateAlleleVcf": "G"}, "hgncIds": ["HGNC:21350"]}
{"accession": {"accession": "VCV000002112", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000002193", "version": 4}, "title": "NM_003477.3(PDHX):c.965_1023del (p.Asp322fs) AND Pyruvate dehydrogenase E3-binding protein deficiency", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "1997-12-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_003477.3(PDHX):c.965_1023del (p.Asp322fs)", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "1997-12-01T00:00:00Z", "dateCreated": "2015-01-10T00:00:00Z", "mostRecentSubmission": "2015-01-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_11", "accession": "NC_000011.9", "start": 34999671, "stop": 34999729, "displayStart": 34999671, "displayStop": 34999729, "variantLength": 59, "positionVcf": 34999670, "referenceAlleleVcf": "GATGACATTAAAGTATCAGTAAATGATTTTATCATCAAGGCAGCAGCTGTTACCCTTAAA", "alternateAlleleVcf": "G"}, "hgncIds": ["HGNC:21350"]}
{"accession": {"accession": "VCV000002631", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000002749", "version": 5}, "title": "NM_022464.5:c.454-6721_768-23561del AND Marinesco-Sj\u00f6gren syndrome", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2010-03-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_022464.5:c.454-6721_768-23561del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2010-03-01T00:00:00Z", "dateCreated": "2019-09-16T00:00:00Z", "mostRecentSubmission": "2019-09-16T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "start": 138311134, "stop": 138369402, "displayStart": 138311134, "displayStop": 138369402, "variantLength": 58269}, "hgncIds": ["HGNC:24624"]}
{"accession": {"accession": "VCV000002571", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000002680", "version": 3}, "title": "NM_006493.4(CLN5):c.566-42_*46del AND Neuronal ceroid lipofuscinosis 5", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2010-02-16T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_006493.4(CLN5):c.566-42_*46del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2010-02-16T00:00:00Z", "dateCreated": "2015-02-27T00:00:00Z", "mostRecentSubmission": "2015-02-27T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_13", "accession": "NC_000013.10", "start": 77574551, "stop": 77575150, "displayStart": 77574551, "displayStop": 77575150, "variantLength": 600, "positionVcf": 77574550, "referenceAlleleVcf": "AGCTTTGTTCACTAGGTGACTTTGTTTTGTTTTTTTAAACTAGGAAACATGTTCAACCAAATGGCAAAGTGGGTGAAACAGGACAATGAAACAGGAATTTATTATGAGACATGGAATGTAAAAGCCAGCCCAGAAAAGGGGGCAGAGACATGGTTTGATTCCTACGACTGTTCCAAATTTGTGTTAAGGACCTTTAACAAGTTGGCTGAATTTGGAGCAGAGTTCAAGAACATAGAAACCAACTATACAAGAATATTTCTTTACAGTGGAGAACCTACTTATCTGGGAAATGAAACATCTGTTTTTGGGCCAACAGGAAACAAGACTCTTGGTTTAGCCATAAAAAGATTTTATTACCCCTTCAAACCACATTTGCCAACTAAAGAATTTCTGTTGAGTCTCTTGCAAATTTTTGATGCAGTGATTGTGCACAAACAGTTCTATTTGTTTTATAATTTTGAATATTGGTTTTTACCTATGAAATTCCCTTTTATTAAAATAACATATGAAGAAATCCCTTTACCTATCAGAAACAAAACACTCTCTGGTTTATAAAACACCTTAATTCTACTGCTCTTTTTTCTCCAATCACCAGCATCTG", "alternateAlleleVcf": "A"}, "hgncIds": ["HGNC:2076"]}
{"accession": {"accession": "VCV000003976", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000004182", "version": 5}, "title": "NC_000008.11:g.52623770_52685461del AND Breast adenocarcinoma", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2002-07-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NC_000008.11:g.52623770_52685461del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2002-07-01T00:00:00Z", "dateCreated": "2015-03-06T00:00:00Z", "mostRecentSubmission": "2015-03-06T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "start": 53536328, "stop": 53598019, "displayStart": 53536328, "displayStop": 53598019, "variantLength": 61692}, "hgncIds": ["HGNC:15574"]}
{"accession": {"accession": "VCV000003977", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000004183", "version": 5}, "title": "nsv1067861 AND Breast adenocarcinoma", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2002-07-01T00:00:00Z", "submissionCount": 1}}}}], "name": "nsv1067861", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2002-07-01T00:00:00Z", "dateCreated": "2015-03-06T00:00:00Z", "mostRecentSubmission": "2015-03-06T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "start": 53537321, "stop": 53574220, "displayStart": 53537321, "displayStop": 53574220, "variantLength": 36900}, "hgncIds": ["HGNC:15574"]}
{"accession": {"accession": "VCV000004005", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000004212", "version": 3}, "title": "NC_000022.11:g.(?_18906222)_(18936553_?)del AND Proline dehydrogenase deficiency", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2002-09-15T00:00:00Z", "submissionCount": 1}}}}, {"accession": {"accession": "RCV000004213", "version": 3}, "title": "NC_000022.11:g.(?_18906222)_(18936553_?)del AND Schizophrenia 4", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "risk factor", "dateLastEvaluated": "2002-09-15T00:00:00Z", "submissionCount": 1}}}}], "name": "NC_000022.11:g.(?_18906222)_(18936553_?)del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic; risk factor", "dateLastEvaluated": "2002-09-15T00:00:00Z", "dateCreated": "2015-03-16T00:00:00Z", "mostRecentSubmission": "2015-03-16T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 2}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_22", "accession": "NC_000022.10", "innerStart": 18893735, "innerStop": 18924066, "displayStart": 18893735, "displayStop": 18924066, "variantLength": 30332}, "hgncIds": ["HGNC:2846", "HGNC:9453"]}
{"accession": {"accession": "VCV000004608", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000004871", "version": 2}, "title": "NM_032383.5(HPS3):c.0_217+692del AND Hermansky-Pudlak syndrome 3", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2012-10-11T00:00:00Z", "submissionCount": 2}}}}], "name": "NM_032383.5(HPS3):c.0_217+692del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2012-10-11T00:00:00Z", "dateCreated": "2013-04-04T00:00:00Z", "mostRecentSubmission": "2013-04-04T00:00:00Z", "numberOfSubmitters": 2, "numberOfSubmissions": 2}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "start": 148844501, "stop": 148848419, "displayStart": 148844501, "displayStop": 148848419, "variantLength": 3919, "positionVcf": 148844500, "referenceAlleleVcf": "CTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGCAAAAATAATGGAGCCACCTATGCAAATAGTGGTCAGCTACCTTTTGGGAATTCCTATACACTTTCCTTGTTTGTTTTTTGTGACTTTTCCAGAAAGAACTTTGAGGAAATAAAGAAATAAAAAATGAGAAGTAAATGGTATTTTGTGAGTGACTTTCTCAACACATTCTCTAAGACCAATGCAGATATCCCGAGGTACCTCACAGATGGGATAGGAAATCAGTGCTCCAGAGATCCAGAATCCTTCTTTTCTAGGCTGGTTGAGTAGAGCTCTTTGTCCATGTTGTTGCAGAACCATTTTTGTAGCCATCCCCAGTGGTGTTGTCACCTAGAAGAAACTTGGGGGAGCTTTTTACCCACATAGCACCCTCAATCTCCCCAGCAAATACAGCTTAAAGAAGTTCTAGGGCCAGGTGCAGTGACTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGAGAGTATCGCTTGAGTCCAGGAGTTCAAGATCAGCCTGGGCAATATAGTGAGACCCTATCTCTACAAAAATTTTAAAAATTAGCCAGGCATGGTGGTATGTGCCTATAGTTCCTGCTAATCTGGAGGCTGGGATGGGAGGATTGCTCGAGCTCAGGTGGTCAAGGGTACAGTGAGCCATGATCACACTGCTGCACTCCAGCCTGGGTGACAGAGCGAAACCCCATCTCTTTAAATAAGAAAGAAAAGAAAGAAAGAGAGAGAAAGGAGGGAAGGAAGGAAGAAAGTTCTCAAGACAACCCTTTTCAACAGAGTGCTACCCTAAGTGCATGTGCTATGGGCTAAATTGTGTCTTCCCCCCAAATTCATATGTTGAATCTGTAACCTCCAATACCTCAGAATGTGACTGTATATAGAGATAGGGCCTTTAAGAAATAATTAAGGTTAAATAAGATCATAAGGGTGGGTCCTAATCTAATATGGCTGGTATCTTTATAAGACAAGGGAAGGACACCAGGGATGCAGGCACACAGAGGAAAGACCATAGGAACACATAATAAAAAGGTAGTCATCTTCAAGCCAAGGAGAAGGGGCTTCAGGAGAAACCATACCTGCTGACATCTTATCTTGGACTTCTAGCCTCCAGACCTGTGAAAATGAAATATCTATTGTGTAAGCCACCCAGTCTGTGGTGTTTTGTTATGGCAGCCCTTGCAAACAAATGCAACCTCCCGCAAGGAATTGATGGTGTGCCATTGCTGCCCCTGCATTCGTAACAGGAATACAAGTGGGCAGCTCCTGCTCACAGCTCCTGACAAACGTGGAAACCAGACACATGCCCCACCTTCCCTTGGGTAGCATGTCTCTTCCCAAAGAATCTTAGATGAGTCAGGTGCAGTGACTACAGCAAGGAAGAAGACACTATCTCTAGGAAGGAATGGGGTTCCAGGTTTTGAGCAAATCTCACTTCTTTCTCCAAAACAGACATTCTTTTTATGCAGGTGAAATTACACTAAAGTTAATATCAGTCTTCATTAGGAGAAAATTGAATTAGGATAATTAAGTCTTGAAGAAGAAAATTAAGCCAAAAAGAATAATATGGCAGATACTTGTGGAAAGGAATCTTTTTTACTATTGATTTTGATATTTGCTCTTAAGTTTTGTATCTAGAACAAATAACTTGTGGACTATTAGTCTGGTTGTTTTCCATAGGAGCCTTCTGTGATTTTTTGCAGCCCTAGTTCCTGACCTGAGCTACCTCCATGTTTACTTCTCTAACTCACTGAGTTTGACGAACCTGTTGTTTCCCATTACTTAGAGGTACTTTATTCATCTGAAGGGCCTAGGAAAGGGAGGCAAGTTTAACTTCAATCCAATTGCATCTAATTTACAAATTCTGAACTGGAAACTGACTGAAGAAAATGTTGCACTTTCATTTATGTCCCTGTGTGCCTAAATAAAACAGCATCCCTCAATCCATGCTAACACATATATTTTCTAGGTGAACTGGACAAAGTTATACTACTTGTTTTATCTAAATCTGATTTTTTTAGAAAAGGGAAAGTGTTGCGATCGTGAACTCCACGTTGAGATGTCAGGAATAGATAATTTACTGCATAGTTTTAGGAGCACTGGACTGAAAGCCAGGGGATTTCCCTCCTAGTTCTTCTATCCTCTGGGGCTCAAACTAGTCTTTTGTCAAATGCCTACAAGATGAAGTCCATGGATTCTTTCTTTCAACAAATATCTTTTTGCCAAGCACGTTCAAGGCTTTGCTCTTTCCAGCTGAACTATTCTAGAATTTCCATTATTTTAAAGCAACTCTTCAGAGTGTTTAGCCCCGAGTTGCACCCCATTTCAGTTTTTGCAACCCCATCCTCCAGAAGCTCAGGGACTACTGAAGAGACATGAATAACGCTCCTCAAAGTAAGTACAAAATGTTACAAGATAGATGATGAATTGTCAGAACGTACTCAAAAGCCAAAACATACCGCCTGGCCCAAAGCAGTAAAAGACGAAAGGCAGGGACCCAGCGGTCCCCGCACCCACCGGCCACTGAGCATAGAGCAGTGGCAAGCTCGCGCGGCGGAGTGGGAGGCGCAGAGACCGAAAGCACTGCAGCGCCAGAGCGCGGGCTGACCAGGCTGGCGTGACCGCTTTCCCGACGCCTGCCACGCCCCGCGGCGGCCTCTTTAAGTAGCGGAGCCGCGGGCGGGGCCGGCTGGCGTTCACGTGACCCGGCGTCATTGGCTCGCTCGCGGAAGTAGTCCTACATTCGCGGTCAGCGCGGGGTCTCCGGGCGCCCTGCAGGGCGGGCAGGCTGTGCCATCCCGCCGGACGTCGGGATGGTGCAGCTGTACAACCTGCACCCGTTCGGGTCGCAGCAGGTGGTGCCCTGCAAGCTGGAGCCGGACCGGTTCTGTGGCGGGGGGCGTGACGCGCTTTTCGTGGCGGCGGGCTGCAAGGTGGAGGCGTTCGCGGTGGCCGGCCAGGAGCTGTGCCAGCCGCGGTGCGCCTTCTCCACGCTGGGCCGGGTGTTGCGCCTGGCCTACAGCGAGGCTGGTGAGTAATCTAGAGAGCCAGGGGCCGCCTGGGGTCCAGCTTGAGGCCTCCTAGCTAGCGGACCGAACGTCTGGGCTGTAGCTCTAGCTAGGGATGGGACTTCTTGCTTCCCGGAATTTGCCGGATGGTCTCCCTGGGTCTGGCCGCTGATTGCTTGAAGTCGCATTGAGCTATGCGGTTGTCGCGGCAAGCATAGGTATGAGCTTGCTTCTGTCGGGGCGGAGACGCTGACATCTCTTCGTCTTGGTTTTCTGCAGAAAGGCCTCTGGCTGGATTCCACTCATCTCGGATACTTAAGCAAACAACAACAAAAAACTCTTTAGTGCATCAGATTTCAAAGACTTACCAAAAAAACAAGTAGGAATAAGGAGACTAGTACTGTATCCCGGAACCTCCAAGTACTCCCAGCTTTAACAATTATTCCAACTCTTGGCAGTTCTTTCACATCTGTACCTCCATCTACTTCCGGTCGGTTTTTGAAAGCTCACATTATGTGTTGATTTTTAAATGTGTGTAAGTAGAACTCAGACTGCCCCCCTCTCTTCTCTTAAACATCTGTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCACGATGTTAGGAGTTCGAGACCAGCCTGGTCAATTTATTGAAACCCCGTCTGTACTAAAAATACAAAAATT", "alternateAlleleVcf": "C"}, "hgncIds": ["HGNC:15597"]}
{"accession": {"accession": "VCV000005264", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000005580", "version": 4}, "title": "NC_000006.12:g.144176889_144196077del AND Familial hemophagocytic lymphohistiocytosis 4", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2005-03-15T00:00:00Z", "submissionCount": 1}}}}], "name": "NC_000006.12:g.144176889_144196077del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2005-03-15T00:00:00Z", "dateCreated": "2018-06-22T00:00:00Z", "mostRecentSubmission": "2018-06-22T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "start": 144498026, "stop": 144517214, "displayStart": 144498026, "displayStop": 144517214, "variantLength": 19189}, "hgncIds": ["HGNC:11429"]}
{"accession": {"accession": "VCV000005677", "version": 3}, "rcvs": [{"accession": {"accession": "RCV000006031", "version": 5}, "title": "NM_014946.4(SPAST):c.1246-2896_1493+523dup AND Hereditary spastic paraplegia 4", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2007-12-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_014946.4(SPAST):c.1246-2896_1493+523dup", "variationType": "VARIATION_TYPE_DUPLICATION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2007-12-01T00:00:00Z", "dateCreated": "2020-01-16T00:00:00Z", "mostRecentSubmission": "2020-01-16T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "start": 32358735, "stop": 32358736, "displayStart": 32358735, "displayStop": 32358736, "variantLength": 4045, "positionVcf": 32358735, "referenceAlleleVcf": "A", "alternateAlleleVcf": "AAACGAACATTCACATAGTTCTTACCAGTTTACAGTGTTTTTTCCACACCGTCTTCAAAATGTAAAGTTTGGTCTTCAATACATCAGTATGCTGCTAGATTTAAATACTAGGGAAAAAAAAATCAGAGAAGTTAATAATATTAACTGTCACCTCCACTAGAAGATGGTCTCCATGTGGACAGTAATATTTCTCTTGTATTATCTGTGCTAAGTAAAATCTTCTGTAAGTTTCTTTAAATATTTTAATAAATCATAGTACTTAAAATGTTCTCAATATTCTAAAGTAGTTAAAAGTAACTATAAAATAGTACCTGTTTTTCTGATCACATTTTACTTCCTATGTGAAATTTTACAAGTCGTTACTCTATTTATTTATTGATTTATTTTTTAAGACAGGGTCTGTTCTGTCGCCCAGGCTGGAGTACAGTGGCGTGATCATGGCTCACTGCAGCCTCAGCCTCCTGGGCTCAAGTGATCCTCCCACCTTAGCATCCCAAGTAGCTGGGACTATAGGCACATGCCACCATGCCCAGCTAATTTTAAAAAATTCTGGGGGGCCGAATGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGAATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCGGGGTGTGGTGGCAGGCGCCTGTAATCCCACTTACTCAGGAGGCTGAGGCAGGAGAGTTGCTTGAACCTGGGAGGCAGAGATTGCAGTGAGCCGAGACTCCATCTCAAAAAAAAAAAATTTTTTTTTGTAGTGACAAGGTGTCACTGTGTTGCCAGGGCTGGTCTCAAACTTCTGGGCTCAAGTGATCCTCCCATTTCGGCCTCCCAAAGTGCTAGGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCGCCGCGCCCGGCCTAGAATATTTGTTTCGATTATTCTAAATCTGGTGACATTTCTTTTGTTTTTAAGTTAAATCTTCAGTAAAAAGAATAAATGCCACCTAGAGGACAGAAAAATTTTTACAGTAGATTATCACAGACCTCATGACTCATTACTTTGGTGTATAAAATGGCCTTTGTATGGTGTCAGCACCTGGGAATGTCTCAAGGGGTGTTCATTGACCTTCTGGACTATCTGGAAATATTTTGATATTTATTGGCTGGGCGCGGTGGCTCATGCCTGTAATTCCAGCACCTCGGGAGGCCAAGTTAGGTGGATCACTTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACTAAGTTAGTTGACTATTTGTGAAATTTCCCTCTCCAAATAGGAAAGATAGGATTGGAAACATTATTCAGAAGGAAGAAGTTTTAAAGAAGGGCAGGCTTAAAGACTATCTAATGAATTTACCAATATGGTAAAACCCCATCTTTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACCTGGGATGTTGAGGGATGAGAATCACTTGAACCCAGGAGGCAAAAGTCACAGTGAGCCGAGATTGCACCACTGCACTCCAGACTGGGCTATAGAGCAAAACTCTGTCTCAAAAAAAAAAAGGAAAAAAAAAAAAGAAATTTTGATATTTATGTGAGAATGACTTTTCACGGTGTTCTTAATAGCGCAAGTTTTGTTTAGGAGAGCACATTCCAACTTACTTGCTTCTATAAATATACCGTGTAATCTAGGGCTTAAAGAATATGTACAATGTCTTTTTCTCTCCCCTAGTCTTCCCCTTTTCTCACTAGTTATATCCTTGACTGAAGAGCTATTTCATTCTCAAGTCTTAGGAATGCAGGGTGAAGCAAAACAGATGAATTTTTAAAGCACTTAACCAGGCTGTATGAAATCACAGTCTGTTGTCTAAAATTGTAAGGGACGGTTAGTAGTACTCTCCCCTTTCTCAAACCAAATCTTTGGTTGTTTTAAGGAAGGGAAATTAAATTCCTGTGTGCTAGATTTTCAACATAAAATTTAAAAAACTGGAATAATGTTGCATTTTATGTGTATAACAGTATAATGCTTTGTTTTAGGTGGGAGAAGGAGAGAAATTGGTGAGGGCTCTTTTTGCTGTGGCTCGAGAACTTCAACCTTCTATAATTTTTATAGGTAAGAACATATTTTCCAACTAAGTTATTGACTATTTGTGAAATTTCCCTCTCCAAATAGGAAAGATACGATTGGAAACATTATTCAGAAGGAAGAAGTTTTAAAGAAGGGCAAGCTTAAAGACTATCTAATGAATTTAGTAGGACCCACTATATTAATAAGTAGTAAACTAGATTAATCTCAGATGACTCACATAGCTTGGTCTTTAATTAAAGTCTTATACTTGTATTTCCTCTAGATGAAGTTGATAGCCTTTTGTGTGAAAGAAGAGAAGGGGAGCACGATGCTAGTAGACGCCTAAAAACTGAATTTCTAATAGAATTTGATGGTGTAAGTGTTGATTATGATATTTTTAATGTGGCAGCATTTTAGTATATTTTCCTATTAAATGGCCAAGGTTAAAAATACAAATATCTTTATATTTGTTATTACTTTTCTAAATGAATTGAAAAAAGATTTTTTGCTTGTAGGTACAGTCTGCTGGAGATGACAGAGTACTTGTAATGGGTGCAACTAATAGGCCACAAGAGCTTGATGAGGCTGTTCTCAGGTAGGGAGATTTATATGGAAATACATGCATTTATTACAGACAATATTTACTCATGTGTCCATCTTACATATTATTTCCTTACTCTCAGTTTTAAGACTAAATTCACTATTTTCTTCCAGTACTATCTCTAGCCTCTTGTTACCAACTACATAAGGATTTTGAGGTCAACAGCTTGATATCAGGAGAATTAGTCTAGTAAAGGTTTAGTTACGGTTTTAGGCAAATTGGTCAGTTCTTCTGGGTTGCATTAAATTATCTTTAAACTTGAAAATTGATTCTTACCGTCTTTTATTGGGCTTCATGAGAAAATAATCAAATCAGGGTTCATGGAAAATGTGTTTTCTGTTCTTGTGTGTTTGAGCAGTTTATTCCCTTCATACTGGAAGGACGGTTTGGGTCAGCATAAAATTCTTGGGCATCCTTTCCCAAGGAATTTACAATATTGCTCCATTGTTTCTAGATTGGCTGTAGTAGTGTAAAAGTCTGAATCCAAATTGATTTTTTCAAATTTGTAAAATAACTT"}, "hgncIds": ["HGNC:11233"]}
{"accession": {"accession": "VCV000006017", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000006388", "version": 5}, "title": "nsv1197507 AND Mitochondrial complex 1 deficiency, nuclear type 9", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2004-09-01T00:00:00Z", "submissionCount": 1}}}}], "name": "nsv1197507", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2004-09-01T00:00:00Z", "dateCreated": "2018-12-16T00:00:00Z", "mostRecentSubmission": "2018-12-16T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "start": 1812546, "stop": 1816720, "displayStart": 1812546, "displayStop": 1816720, "variantLength": 4175, "positionVcf": 1812545, "referenceAlleleVcf": "TAAAAATTTGTGTTTCCACATTTTGCAGTTATAATCCCCTTGTCCCTCCAATTCCCTGTATCCCAGATTATCCCATGTGGCAAATTTCCCCGGGTTGACTCCTCTTTTAACACAACCTTAGTTGCCTTAAAAACTTCCCTGACTTGTGCCACAGTAGAGTGTCTGAAGTTCATTCTATAACATTTCCTGTCCTGGACCCAGAATCAGTCATTTTTGAAAGAATCCAGTCCCTTCCCTTCGGTGTGAAATGGTGTTTAGAGACCACCATGTGGGCAGCAGGGGTCCTCATTGCCCTGAGTTAATCATGGTCCTGGGGATGGAGCTAGAAAGGGTGTGTGTAGGCCAGGCTCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCGGACGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAGAATTGGTTGAACCTAGGAGGCGGAGGTGGCAGTGAGCCAAAATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAGAAAAGAAAGGGTGTGTGTGAACATCAGACATGGGATGAGTCACACTGATCCTTCCAAACTTAGTTCAGGGTTACAAGACTTCTGCTGAACCAGTGAGCTGACCTCTCTATTTCCTTCCCCACACTGAAAATCCTGATTTTTCAATAATAATTTCATTTGCTTTGGAAGCGGTTTTATTCTTAAGGTGTGTCCTGTTAGAAATGTTCCTGTTACTCTCTTAAAGTGTTGGGAATTCCTTAGGTCCATTTGTCTCTTTTAAAAGTTTAGTTTTCTAACTTTGAAAAATATAAAATATAGTCTCAGTCAGATTTATAAAACTTGGAAGAAAGTCTAACGATCGTGCTCGCGTCCTCCTTCCTTTCCACCTCACAGTAGTAACTGTTCAGTGCTTTCTCCTTTGGATTTCATGTAAATCAGTGAATATGTAGGCGGACCCCTGGTATTCCCCACATGGATGAGTGGAAGCTTCCTGTCCACTTACCCACTGCCTGGCATCTCCACGTAGTCCTGTGTCCTCCTTCACCCCATCGCGGTATTATGGAGACACTTTTTTCATTCCGTTTTGATAGTAACTGAAAGCATCAGCACACAAGCAGGACGTGAAGTTACCAGAGTCTTTCCCGCACATGCCTATGAGTCATAAATGACCAGGTGGAAGACACAGTGGATGAGGAGACCCAGTGTACGGTAGCAGCAAACAAGAGAAAACACTTAGGAACAACCTAACCGGCATTCAGGACCTCTGTGGCCCAAGGGGAAAGCCGGAAGGACATTGTTGGTCTAACGGATTGCAGAGCTACTGGCATTTTTGGCATTTTAGATAAATCTATTCCATCGGTATCATGTTTACTGAGGTGGATAACTGCATGGAGGTTCTGTGAGAGAATGTTCTTATGAAACGCACATGGGAGCCTGTGACAGACAGGCCCGAGCAATACAAATGTCCTCAGGTGGGACAGAACGATGTGGTGGGGAGAAGAGGGCGTGGCAGAGCCCACGGGGCACGTGTCAGCATTTGCTGGGTCCACGGGGACAGAAGGGAAAGGCTCTGTGCTGCTGGGATTCTTGCAGTGCCTCTCCGCGTTTGGAACTTTATTCCAGTGAAAAGTAGATGTGTGTGTAGGCCCTGAATTTAATAAGGTCTACAATGATAATAGTTAAATGAAGCATGCACCATAGATTCGTGCTGATGGTACATGAATTTGTGTGTGGTGGGTTAAATTGTATGTAGTTAGCAAGTTTGTGTATTTGTTTACGTAAGTCTTTCTTCTTGTTCCAGGTGAATGAAAACTTTGCCATTGATTTGATAGCAGAGCAGCCCGTGAGCGAGGTGGAGACTCGGGTGATAGCGTGCGATGGCGGCGGGGGAGCTCTTGGCCACCCAAAAGTGTATATAAACTTGGTGCGTAGCTGGCCACCTGTGCACATGTTAGGGCAGCCTGCTCGTCCTCATACTCCCCTTCACTCCCAGTGCCTGTTCTTTCTGTCCTCTTCTCTACCTGCTCCCGAGGCGGCCCTTACGGGGTTCACACTGCTGGCACATTCACCCTACAGCGCCACACTACAGGGCCTACATAGAGCCGCCTGTCCGAAAACCCCCTTTCAACTGTGAAGTGGTGGGCGGCATGTTTCTCTTCTCGGACGCCCAAGCGTCTTTCCTCTCTGGGCCCTTCTCGGTTTGGTCATCATCTCAGCTCAGGCTGCCACACACAGCACCGCAGGCTGGGGTCGAAAACAACAAACACATTTCCCACAGCGCTGGAGGCTGCAGCCCAAGACCACCGTGCCGCTCTGTGGGTTCCTCCTGGGGCCTCGCTCCGGGGCTTGCAGATGAGGTCTCCTCCCTGTGTCTTCACAGGGCCGTCCCTCTGTGGGAGACTCCTCATCCCCTCTTCTTATAAGGGCACCAGGCAGATTGGCTCAGGGCCCCTATGTGACCTCAGTTTACCTTCATCACCTCTTTAAAGGCCCCATCTCCAAATACAGTCACATCGGGGGTTAGGACTTTGGGGGGCACACGGTTTATTTTCTAACAATCCCTATGTAATCTTTTATGCCTGTTGATGAGTGTCATATACAGGACCATTGAGAAAAAAAAGAACACAGGACCGGAGAAAGAGACCGTGGGCTGAAGCTGGGATGTGGAACTGGGGTGCAGGGTGGGAGGGAGGCTGCCACAGATCACTCAGGGACTCGGGCGGCTGCTGACCTGGGGTGCAGGGAGAGGGGGAGGCCACCGACAGTGGAGCACTCAGGGACTCAGGCGGCTGCTGGGCTTGGTGTTCTCCCCAAAGCAGAGTCCTGGTTAAGGGACTTTAACTTCGTTAGAGCTGACATTTATTAAAAGCTGTCATTATCTTGTTGCCTGTCCTGAAAAGGGGACAGTGTAACAGGCATAAATGGTTAAGCAGCCTAGAGTGGGACTGGGCACCCGGCATGTCCCCTCCTGGGCTCCAGCCCTGAAGGCCAAGCCTGGTTGTGCCTCACTGTCGTGTGCAGCACCCACCGCCTGCTCCAGGCCGCTGAGGTGTGGGGAGTGAATGGAGCTGCAGGCTGACAGTGATGTCCCTGGGGGTCCTAGGGGATGGCTGCGTAGCCCGGGGTGGGAGCCTGAGGCCAGGGGCTTCGGTCAGCCTGGAACCGAGATCGACAGTCTGCATTCTTACTTCAGTAGTAACTGCGTATTTTTGTTTCTGACAGTCTAAGTTTTATACATACATTTTCAATGCTTAATATCTAGATTTGAAGTAGAATATGGAAATATGACATCATTCCTTTTGAATTTTTTCAGGACAAAGAAACAAAAACCGGCACATGCGGTTACTGTGGGCTCCAGTTCAGACAGCACCACCACTAGAGCGTGTGGCACGCCGGGGGTCCCGCAGCATCCTGTGAGCATTTCCGCGGGGAAGCTGAGCACGTGAAGCTCGCTGGTTCTGTGCGAAGGGTATTCCTGGTGCTGAATAAAGGGTGTTGCTGTCAAGGCTGACAATTTGTAAGTTTGTTTCTTTCATAGTCTGGGCTTTGGAAGTGAACATCCACGTGGACATGGGTAGACATGCGAGTGGAAGCAGTGCCCGCTCCAGTGAGCCTGAGCTGCCTCCTGCCGGCCGCTGCCTGCCTTACCGGCTGCTTCTGTGTGTCTCCTCTTATCCTTGGGGCCACGTGGGCTGCAGGAATGGGCGGGGGGCAGGGAAGGAGAAGGAGAAGTGCCTCTTGTTTTGCAGATGCAACTGTGCTTCAGAGAGCCAAGGTGGGTCTTGAGGTGCATAGTGAAGGAGGGTGCCCAGGCCTCAACTGGTCCTATGGGAAGGTCAGCCTCTCTCCTGTTGCTGGCTTGCAGAGCTGGTCTATCCGTCCGTCCTAGTCCCTATGTTGAAATGTCAGATCTTAAAACCCAAGAATTTAAGCACTGGTTTGAAGGCATCGAAAGTCACATACTGGCCACATTAAGGACAGTCTATGTTTTTAAAAGAGTAAGGATTATAATGTAGTGTAACATAAAAATAAAAGTAGATTTTGAGGGAAGAGAAAGGAGTCTTGCTAG", "alternateAlleleVcf": "T"}, "hgncIds": ["HGNC:7713"]}
{"accession": {"accession": "VCV000006375", "version": 4}, "rcvs": [{"accession": {"accession": "RCV000006747", "version": 6}, "title": "NM_003664.5(AP3B1):c.1474-7072_1650+921del AND Hermansky-Pudlak syndrome 2", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2006-07-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_003664.5(AP3B1):c.1474-7072_1650+921del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2006-07-01T00:00:00Z", "dateCreated": "2019-10-02T00:00:00Z", "mostRecentSubmission": "2019-10-02T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "start": 77436046, "stop": 77444215, "displayStart": 77436046, "displayStop": 77444215, "variantLength": 8170, "positionVcf": 77436045, "referenceAlleleVcf": "TGCAAATCTGGTAAATTATACTACTATTAAAAGTGGTTTCCCTTTCCTCTGCAGGACAAGGTCCATACTACTTAGCAGAGCATACAAGCCACTCCATGCGTTCAAACTGCAAAATGTCTTAGTCCATTTGGGCTACTGTTAGAAAATACCATAAACTGGGAAGCCTATTAATAATATAATTAATAATAAAAATTTATTTCTCACAGTTCTGGAGGCTGGGAAATCCAAGATCAAGGTACCCACAGTTCTGGTGTCTAGTGAGCACCCATTTTCTAATTTACAGATAGCACCTTCTCACTGTGTCCTCACATGGCAGAAGCAGCAAGCTAGCTCTCAGGGATCTCTTTTCTAAGAGCATAAAGTTCATTTATAAAGGCTCCACCCTTATGACCTAATCACCTCCCAAAGGTCCTACCTCCTAATACCATCACATGGGTGATCAGGTTTCACCACATGAACTTTGGGGGATATAAACTTTCAGACCATTGTACCTGCCATTCTGGACTCACCTTCAAAAAGTTTCCCAGAAACACCAAGCTGTTTCTTGACTCTGACCCTGTGCTTTCCTCTTTCTGTACAGTAAACCACTCTTACAAGCCCTTAGTCAAGAGTTTCATCCTTTATAAAATTTTCTCTGACCTCACATCGACTTCAGACTTTATAATTCGTCTAGAATTCCACTGTATGTCAATACTTCTGCTACAGCATTAACACACACTATTTCATTTTTTAATCTGTTTTCTCTCTTACTAGACTAGAATGTCATCTGTTTGCACTAGTATCATCTAACATAGAACCTGAAACAAACAGGCACCTAGAAATTGTTGAATGGTCAGACTAATGAAGGCACAGACCCCCGCTGTTTGATCAGAGTGAAGAGGAAAGTACGTATTAGATAGGTTGACTAACATTTGCCTCTCACCTGTTTGGAGTTGGTTAAATACAATTTTGCTCCCAGATTTAATATCTGCAGTTTTACCAGATCATCTTCACTAGTGAAGCTTTTAGCCATCTTCCTCAAAACATCAGGGGCAATTTTAGGAACTCGTTCACAGTTTTCTCCAATTAGCCAAAGAATACTTGCTCTAGCAACAGGAACCTAATATGAGAAGCAGATTACATAGTTAGAAGTAAGTTAATCATACTCTAATATTAACATAGAAAAGGTTTTAACTATTACAAAAGTTTTACAGCTATTAATTAATTTAATGTATATCTAGGAATTAATCCTGTATTTATGAATTTTCGTCAGTTATCAAAAAATAAACACATAGGAAATCTCATTAAAATTGATTTCGAAGAGAATATCTTAGAAAATATTCATACAGCAAAAACCGATGGTCTAGAATCTAGATTCTATCAGAGACGAACAAATTCTAGAAGCCAGTCTAGCTGCCCATACCTATTTGTTTCTCCATTATCTGTTGCTGCTTTTGTGCTATAATGGCAGAAATAGTTACAGTGAAGACCATATGGTCCTCAAAGCCAAAAATATTGACTGTCTAGCAATTTATAGAAATGGTTTGCTGACCCCTGCTCTAGAACAGCAGTTCCCAAACCTCAATGCCCACAAAAATCATCCAGGGTTCTTACTAAAAAGACAGGTCCTGGGATCAGCTCCAAAATAGTATTTCTGTGGTGGGGCCCAGAAATCTATGTTTTAATTTAAAAAGCATCACAGATGACTCCTGAGACAGGTGGTCCACAAAGCCCATTTGAGAACCCACAGATAATACAGAAAAAGAAACAGATCAATTAGGTACTATGATTCCAAATCAAAACTGTTTTTGCTCTTTATGTATTAGCATCTACAACACTGGAAATATATCAAACTGATAAGATCATCAAGGTCTGCTTATAAAATCATGAATCCCAGTCTATTATTTGGTCAACAAAAGAAACAGGGATAAATTTGTCCAATATTGCATTTTGGCACTATATTTTTAAATAAACTGCATTTCAATATAATTTATGTTCTTAAAAGTCACTGCTTTGTGACAAATTGGAAACCTTCCATCAGTACCATTAAGACCAACAATTTAGAGTATGCAAATTAGTTTTATTACTATTTGCTTATTTGCATCCTCCCCTATTCCAAAAGGAATTTGAGAGGGTGTGTAAATTCATTTCAGTGAACATTTTCACCTCGCACAGAAAATTTGTTTTTTATAATAAGTGAAAAGGCTGACAGCTATCATTAAAAGGTGGCATCACGAGGAAAGATAATGTTCTTTTTATGAAGTCCTTTTACAATTTCTCAAAGTCCTAATATTTTCTGTAGTTTCATGGCTATACATAGTAGGATTGTTAAAGAAAAAAGTGAGAATAAGGACCTTTCCATAGCTAAAATTTTATCACAATATCTACCATTGCAAAATCTTTCAAAACACCCACATTATGAAATTATATAAAAATATTAAGTTACAATATTGAGTCCTTCACTAGAATCAGAATGAGATGATCAAAAAAGCTTTTAAATAAAAAGGTATATATTTTAAAACAGTGTAACAGCATGTCTTTAAATTATTATTTAGCATGTTTGGTGAGACACAAGAAATCCATATACTTGTGCAATTAGAAAAAGGTCTAAGTGCTATTAAAAATCTATTCATGCAGTGTGATAAAACTGATGCCCTTACTGCATACTGATTTCTGGAAAGAAAAGAGGTTATTTCTAACGTTCCAAAGGTTACACTGCATTAAGACCTTACTCCCAATCTATTATTTTAAATTGGGCTAAAGAATAGTAATTGAGTGGTACATTAAATTTTCCAGTATAGAGGAATTCAAGTTGCCTGCCATAATGAAAGGTAGTTCTAAATAAGAATATATGTGCAACTTCAAATTTCAGTTATGCTAGATTTATTTTTCTTAAATATTTTATTATATATTGCTAGTATAAAAATCAGAATTCTATGACATACCATAATCTATTATCCCATTTTAAGTAATTTTCTTCTGGTAACAATCTTTTGCAATTAAAAAGACGATCCCAAAAACAAGTAATGTTTAAAGAGATTGTTTATATTCATGAATATACTAAAATTAAAATTAAAATATTGGAATACTGTAAACACTCACGATACATATATTTAAAATACAACTCTTTGAAAAAATTAAAAATCAATAAATCACAATGCTCACAATAAAAATCTCAAGATGGTGGTGAGAATAAGATTTGTAGTTTTCTAGAACTGAGCTAATAAAATCCCCAAGAATTTTTAAAACTTAGAAAACTTCACCACAAGAAATAATATCAATATAAATATACCAAACTTTTGGTGATGGCATTGTATTACAAAGCTTAGGAAACTGACAAAGACAACATTTTTGAGCAGGTGGATGGGATCAGAATACTAAGATTTTTGGATTCCAGCTTTCCCTTTCTCTTCCCATTAAGCAACAGGACTCTCATTTATACACCATTGACACTATGAATTCACAGCCACTACTTTCAAAGATTTGAAGCACCTGAAAAAAAGGCAAGTAAGAAAATTAGTCACTTTTTAGAGGCCAGGCACAGTGGCTCATGCCTAAAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGACAGGAGTTTGAGACCAGCCTGGCCAACATGGTGATACCCTGTCTCTACTAAATATACAAAATTAGCCTGGCACACTCCTGTAATTCCAGCTACTTGGGAGGCTAAGGTAAAAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAGAAAAGTAAATTAGTCACTTTTTGTTCCCCATGGTCTTTTTAACCACAAAATAAATAGGAACACTGAAATAAAACCAAACTAATAATACACACACAGACACAGACACAGGTACAGACACACACACAGAGTCATACATATGATATAATACTTTCATTATGAAGCTCTGCTTTTCAATATTCTCAAAGACAAATTGGATTGTAAATGACTTTGCCTGATTCTTTATTCTAAATGCCCTGAGAAAGTGATTAAATGCACTTTTCAAACCTTGTACTAGAAGGCAGTTTCCACGGCCACCACAACCCATTAATTTGCCAGCAAAAACAAATAATGATTCCTAGCTCACCACAGCAGCTATAGAAAGACATCTAGAAAGATTTTGCAGATCACTCTGTAAGCAGTTCAATTTAAAAGCTATTGTGTTTCAACACCAGCCCACTGCACAGTGCAACAGTCCAAAGTAAACCCTACAAAAACATCAATTTCATTTATTTAAATTTGTCAAAGGCAAAATCAGTAGACATCTAAGCAAACTGCATACCAACAGCAAATCAGATCTAATACTCTGTATCTGGACTCAATATGCATTAAAGCCTAAGCCTGAATTACAATGGGGTGCCAGAGAAAGGGTGGGTAACTTGTGAAATGGCAGGCATCCTGTGAGGCATCTGGGCAACAAGGATACAAAGTGCTATTTCAATATTACTCAGTTTTTACAGAATAACATCTTTCAGTTGTTAAGATATGAAATCCCATCTGTCCCATTAAACATTATGTGAAATCCTGTCAGAGCAATCCACAGGTAGTATGGGTTGTTTTGTTGTTGTTGTTGTTTTTTAAAGACAGGGTCTTACTCTGTCATCCAGGCTGGAGTGCGGTGGTGCAATCATTGCTCACTACAACCTCAAACTCCTGGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACCATGCCAGCTGATAGTATGCATTTTATTCTAGAAGAACTCCAAAACCAGTATTTATCATAAATGAAGGATACGCCAAAGGACAGAATACTCACAATCAGAACATGTAAGTTGACTGTATTACAGACATAAATCTATTTGATTTGACCGAATTCAAAATGTAAAATACATTTAAACTTTAGTTTTTATATTTTCAATTATTACTAAATAACCAATTAAAACAAAGCCCTCAATATGATAAAATCTATGTTCTCTTTTTAAAACAAATTACATAGCTAATATCTATTGAGCTCTTACCATGTGCCATGCACTGTTTTTGAGAGCTTTACGTATTTTCTCAGTCATTCATCGCCAAAGCCCTATGAAGTATGCTCTACTATGATCTGCACTAGACATATGAGGAAACTAGGTAACAAATGAGTTAAGAAACTTGCCCACATCTCACAGCTGGTTAGTGGTGGAACTAGGATCAGAACTCCAAATCTGAATCCAAAATTCATACTGGATCACTGGGTAGCGACAAAATGAGTGTGGTAAACTAGGAAGAATACTGGTCAGCAAGCTGTTGAGACCGGTTCTGATCCCACACTGATGGTGTTACATCAAGGAGGCAATTAACTTCACCTCACTGGGGTCATATTTACTTATTAATCAGATGAAGGATTATTCCTTCATCCTCTGTTTGTCTGCCACATTGTGCAATGGCTCCCTTAGTGCCTCCTGCCATTTCCCCAAGAGCCAGATTTTCAGGGCAGACCCAGGCCATCCTCTTGCCTGTTCCCACACCCGTGTATAGTGGGACATTTTCCCACTTCTTTCACCTCTTCTTTTAAGGATAGGTAAGGTGGCCAGGTGGGAAGAGGTCTTGCTATCACTTCTGTTCTCTCTCCTTCCAGAAGAAAGATGGACCCAGGATTCTGCCCTAATAAAGTGGCTCAGGCACTGAAGGAAAACATGCTCAATATTGACCCATTGTCCTTAGATATTGGACAGACTGGCTTTTCCTAAAATTGCAGTGTTTTAGAATGACACTCCTGGGTTTGATGGTGAAATAGGTAGAGATTCAGGAGGACAGAAGTCTCATTTAAGGCTCTTATTTTAAGGCTCACATTTTAAAATCACTTGCCTACGTTTAGGAGTTATCAGGTACTTGGTCGGATTAATAAAACACTGCTTTTATTTCCACATGGCCATTGTTCTTGTATAAACAGCTCTCCTGACTGGAACAGAGAGATTCTGGGGATTCAATCATTCTTCTTTCCTGACTTTGAAGTTATGTCTGCTACATCCCTCATCACCTTCTCCTGGGGTAACTTGTGGTTGACCATTTTGAGGGTTCTGCACAACAAATTGTTTTGATTCTTCCTTGCTTGTCCCACCTTCAAGCACTTCAGTTTCCTCAGATACGTTAGATGAGCAGTAACAACTAATTATCAGCTTTTCATTCTCCTTAAGTTCAAATGTGTGCTGTAGAATTCCATACAGCTTTCTTGTATTTTAATTTCTTTTATTATCATATTCCAGATTTGTCTACTTTTGTTACCTCTCTCTGCTTCATAATAATTAGAAGGGAATTTTGTTTTATTTTCTTTCCAAAAGACCAGATTTAACATGTACTTTTCAACTCATATATATTTTTTGTATTCTATTTTACAAAATCAGCATTGATCCCTCTTCTGTTTTGATTCGTTTTTCTTTTATTTTATATCCCTATACTTTAAAAATGGTGATCTTTATAACTTTAGCCATGTCCTACATGTTTTGAAATAAAGCATTTTATTTCCTGGGTTTTAGAAAAAAGTTTGCATTTCTTCTTTAAATGCATTCTTTAATCTGAAAGTACATTTCTTACTTTACAACTGGTCTGGTACCCTTTTAAATTATTTAAGTCTCATTTCATTGCTTAAGGTCAAAGAATGCAAAATCTTTAAGCTTCCTTTATGCCTAAATACATTCTTGATTTTTTGAAAATATTCACTGGATATACTCCTAAAAGTGGGTATTATCTGTTCAAGAGATATAAGGTTTTAGCTATATTTACTAAATAAGTTTTTGATTACTTAATTTTCTTACTTATATCTGTCTACTAGAAATATCTAATATGAGAGAAATACATTACAGTCACACATTGTAACTATTTTATCAATTTCTCCTCACATTTTGAATAGATTTTTCCTTTACATATTTATTTGGTTGCCATATTTTTTGTGCAAATAGGTTTGTGCTTATTACTTTCTTTACAAATTACCCTTTTTTCATTTTATAATGTTCCTTTTTATCTTGTTAAATGCTTTTAATTAACTGTAAATCTCACTTTCTTGTTCATATTTGCTTAATATCTCTTTCCTTACCTTCTTATTTTCAACTTTTATCACTTGATTAAGGTGCTTTAACTATAAATGGCCTGTAGCTAGTTTTTGTTTTTATTCCAATTTGTAAGTCTGTCTTTTGATGAGAAAATTCAGTCCATTCATATTCAAGATGAGAAATATTTGATTTTATTTCTTCCATCTTTATTACTTTTAAATACTTATTATTTATTTTACATTTGTTTTCTTTCTTTCTTATTTTTTTTCTGGCTTTGTAAAACTGCTATTTGTTCCTTTATTTTCCTTTGTGAATACTGAATTCTCACCATATTTTTGTATCTATTAATGGTTATCTTCTGAGAAAAACAAAAGCTGAAAAAAATAAGCTTTGCTATATAGAGCTGTAAGACTGTACTTATTTGGCTTATAGTCCAGCAACTGTTGAGAAAGTTGATGCATCAGCCAGGTGCCATGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGGGGTGAGATCACCTGAGGTCAGGAGTTTGAGACCAGCGTGGTCAACATGGGGAAACCCCATCTCTACTAAAAACACAAAAATTATCCAGGCACGGTGGCGCATGCCTGTAATCCCAACTACTCAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGATGAGATTGCGCCACTGCACTCCAGCCAGGGTGACAGAGCAAGACTCCATTAAAAAAAAAAAGGGAAAGAGAGAGAATGAGCGAGAAAAAGAAAGTTTACACATCAAAAGTATCTTCTGTATCCCTGGACATGAATATACTCAAATAGAAGAAAGTTTTCTTCCAAGAAAGCCTAGGGTTTGCCAGATACAGGCCTCATACACTGTTACAGGTTTTATGTATAGCAGCTGCACTCTCCTGAAGCCCTAGTACTTATAATTGCCTCTTCCTTTCTAAACAGGACCAGAACGAGTTTACTAGCACAAGTTTTAACTAAATTTTGCACAAGAAGTCTGGGGAGATACAGAACTCCTAGTTCCTTCTCATAATCAGATACATACTTCTCTACCATTACCTGTAAACAAGGTATTAA", "alternateAlleleVcf": "T"}, "hgncIds": ["HGNC:566"]}
{"accession": {"accession": "VCV000006637", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000007016", "version": 4}, "title": "NM_007129.4(ZIC2):c.177_178ins56 AND Holoprosencephaly 5", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2013-08-29T00:00:00Z", "submissionCount": 2}}}}], "name": "NM_007129.4(ZIC2):c.177_178ins56", "variationType": "VARIATION_TYPE_INSERTION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2013-08-29T00:00:00Z", "dateCreated": "2013-10-02T00:00:00Z", "mostRecentSubmission": "2017-04-27T00:00:00Z", "numberOfSubmitters": 2, "numberOfSubmissions": 2}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_13", "accession": "NC_000013.10", "start": 100634495, "stop": 100634496, "displayStart": 100634495, "displayStop": 100634496}, "hgncIds": ["HGNC:12873"]}
{"accession": {"accession": "VCV000007063", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000007479", "version": 3}, "title": "nsv513788 AND Autosomal recessive early-onset Parkinson disease 7", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2010-10-01T00:00:00Z", "submissionCount": 1}}}}], "name": "nsv513788", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2010-10-01T00:00:00Z", "dateCreated": "2016-09-25T00:00:00Z", "mostRecentSubmission": "2016-09-25T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"forDisplay": true, "assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "outerStart": 8018845, "innerStart": 8022846, "innerStop": 8037799, "outerStop": 8044954, "displayStart": 8018845, "displayStop": 8044954, "variantLength": 26110}, "hgncIds": ["HGNC:16369"]}
{"accession": {"accession": "VCV000006632", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000007011", "version": 3}, "title": "NM_006412.4(AGPAT2):c.366_588+534del AND Congenital generalized lipodystrophy type 1", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2004-01-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_006412.4(AGPAT2):c.366_588+534del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2004-01-01T00:00:00Z", "dateCreated": "2014-11-29T00:00:00Z", "mostRecentSubmission": "2014-11-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "start": 139570503, "stop": 139571539, "displayStart": 139570503, "displayStop": 139571539, "variantLength": 1037, "positionVcf": 139570502, "referenceAlleleVcf": "ACCCTGGCCTCTCCCAGACACCCTAGGATGCACTGCACCCCTGGAGGCTGGGGACCAGGAAGTCCAGAGTCTGGAGGCGCTGCTTACAATGAGCTCCACCCACCCTGAGCTCTGGTCTGGCCTGATACTACACCAAAAGCCTGGCTTGTCCAGACCCACTGCCCATGCCCTGAAGCCCACCCCAGCCAGGCACAGGCCCAGAAATGAGCCTCCTGAGAGCTCTGCAGCAGAGGCGAGCGGCCCGGCTCCCCACCCCTCTACCTGCCCAGCCTCGCAGGCCAAGCACTGGGTGCCCACCAAGGGCAGCTGGTCACTCTGGGCTCTGTGTGGGCAAAAGGCCCAAGGGGCTGCCCTCCCTGGTCGGTCAGGGGGCAAGTGCAGGAAGGGGCAAGGAGGCCCTGTCCCCAACTCAGTGGGAGGAGTCCCTTGTGTGTCAAGGGTCCTCAGCTCGGCTGGTGGTCACCTGCTGCCTTAAGCCAGCCTGACCCCGCCTCCCCAGCCTGCACCCACCCAGGGAGGGCTGGGCTCAGCCTACCTGTGCCTGGACTGCCAGGTAGAAGGCGCCCTTCTTAAAAGGCAGCAGGTCCCCATTGTCGTTGCGAGTACCCTCGGGATAGATCCACACTTTGAGCTGCAGGGAGAGGAGAGCCTGGACTGACCTCACGCCCAGGCCACCCCAGAAAGGCCACGCCGCCTCGCCTCCTAAGAAGCCCCACTTCGCAAAGCAGCTGGCATGGGACCCCATCTGCGGAGCATGGATGATGTAGGGGTCTGGCGTGGGACCCCACCTGCGGAGCATGGATGATGTGGGGGTCTTGTTTTTTCTGCCAAAACCAAGTCACAAGCTGGCCCCTGCCTGGCCCCGCCCAGGCCCCACCCCAACCCCACCGAGCCCGGCCCTGCACACTCACGTTCTCCCTGACCATGCGCTCGCCCAGGTCGGCCATCACTGTCATGGCAGTGCTAGAGCGCTGCCGGTTGATGAAGAAGACGCCCCCGAGGTACATGATGAGGCCCACGGGCCCCAGGAAGAGCAGC", "alternateAlleleVcf": "A"}, "hgncIds": ["HGNC:325"]}
{"accession": {"accession": "VCV000006968", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000007383", "version": 4}, "title": "nsv513786 AND Hyperphosphatasemia with bone disease", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2002-07-18T00:00:00Z", "submissionCount": 1}}}}], "name": "nsv513786", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2002-07-18T00:00:00Z", "dateCreated": "2015-07-05T00:00:00Z", "mostRecentSubmission": "2015-07-05T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "start": 119932595, "stop": 120030098, "displayStart": 119932595, "displayStop": 120030098, "variantLength": 97504}, "hgncIds": ["HGNC:2220", "HGNC:11909"]}
{"accession": {"accession": "VCV000007654", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000008093", "version": 2}, "title": "NM_000414.4(HSD17B4):c.974_1209+1del AND Bifunctional peroxisomal enzyme deficiency", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "1997-11-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_000414.4(HSD17B4):c.974_1209+1del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "1997-11-01T00:00:00Z", "dateCreated": "2013-04-04T00:00:00Z", "mostRecentSubmission": "2013-04-04T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "start": 118835010, "stop": 118835246, "displayStart": 118835010, "displayStop": 118835246, "variantLength": 237, "positionVcf": 118835009, "referenceAlleleVcf": "TAGGCTGGAGCTATTGGCCAGAAACTCCCTCCATTTTCTTATGCTTATACGGAACTGGAAGCTATTATGTATGCCCTTGGAGTGGGAGCGTCAATCAAGGATCCAAAAGATTTGAAATTTATTTATGAAGGAAGTTCTGATTTCTCCTGTTTGCCCACCTTCGGAGTTATCATAGGTCAGAAATCTATGATGGGTGGAGGATTAGCAGAAATTCCTGGACTTTCAATCAACTTTGCAA", "alternateAlleleVcf": "T"}, "hgncIds": ["HGNC:5213"]}
{"accession": {"accession": "VCV000007653", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000008092", "version": 4}, "title": "NM_000414.4(HSD17B4):c.1212_1261+2del AND Bifunctional peroxisomal enzyme deficiency", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "1997-11-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_000414.4(HSD17B4):c.1212_1261+2del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "1997-11-01T00:00:00Z", "dateCreated": "2013-09-19T00:00:00Z", "mostRecentSubmission": "2013-09-19T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "start": 118837734, "stop": 118837785, "displayStart": 118837734, "displayStop": 118837785, "variantLength": 52, "positionVcf": 118837733, "referenceAlleleVcf": "TAGGTTCTTCATGGAGAGCAGTACTTAGAGTTATATAAACCACTTCCCAGAGC", "alternateAlleleVcf": "T"}, "hgncIds": ["HGNC:5213"]}
{"accession": {"accession": "VCV000009492", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000010100", "version": 6}, "title": "NM_005502.4(ABCA1):c.1584_1597delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Glu529_Trp533delinsGlyArgGlyGlyArgSerCysAsnProSerTyrLeuGlyGlyTer) AND Tangier disease", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "1999-08-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_005502.4(ABCA1):c.1584_1597delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Glu529_Trp533delinsGlyArgGlyGlyArgSerCysAsnProSerTyrLeuGlyGlyTer)", "variationType": "VARIATION_TYPE_INDEL", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "1999-08-01T00:00:00Z", "dateCreated": "2018-02-19T00:00:00Z", "mostRecentSubmission": "2018-02-19T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "start": 107594021, "stop": 107594034, "displayStart": 107594021, "displayStop": 107594034, "variantLength": 110, "positionVcf": 107594021, "referenceAlleleVcf": "AGAACTTCCTCTCA", "alternateAlleleVcf": "GTACAGTGGCGTGACCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTCCTGCCACCACGCCCG"}, "hgncIds": ["HGNC:29"]}
{"accession": {"accession": "VCV000012133", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000012916", "version": 4}, "title": "NM_000387.6(SLC25A20):c.200_326+1del AND Carnitine acylcarnitine translocase deficiency", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "1998-06-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_000387.6(SLC25A20):c.200_326+1del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "1998-06-01T00:00:00Z", "dateCreated": "2019-08-09T00:00:00Z", "mostRecentSubmission": "2019-08-09T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "start": 48921429, "stop": 48921556, "displayStart": 48921429, "displayStop": 48921556, "variantLength": 128, "positionVcf": 48921428, "referenceAlleleVcf": "ACCTGAGCACATCTTCTGGGTGTTTCTGTTGTAGTTTCTTCCCCAAACCAAACCCAAAGAAGCACACGGCAAACATGGGAGTGACCCCGATGATAGGGGCAGCCATTCCCCGATATAGCCCCGTGATGC", "alternateAlleleVcf": "A"}, "hgncIds": ["HGNC:1421"]}
{"accession": {"accession": "VCV000014303", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000015373", "version": 22}, "title": "NM_000426.4(LAMA2):c.7750-1713_7899-2153del AND Merosin deficient congenital muscular dystrophy", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2012-06-07T00:00:00Z", "submissionCount": 2}}}}], "name": "NM_000426.4(LAMA2):c.7750-1713_7899-2153del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2012-06-07T00:00:00Z", "dateCreated": "2013-04-04T00:00:00Z", "mostRecentSubmission": "2018-10-10T00:00:00Z", "numberOfSubmitters": 2, "numberOfSubmissions": 2}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "start": 129805906, "stop": 129810893, "displayStart": 129805906, "displayStop": 129810893, "variantLength": 4988, "positionVcf": 129805905, "referenceAlleleVcf": "GGTAATGATAAACATAAAATCCACATTTGTGGTTACCTCTGAGATGGAGAAGCAAGGAGATGGTATTAGAAAGAAACTCATAAGAGATGCAATGGTATTGTTTCTGAAATTTGGTGGTAGATTTACAGGTATTCATGTTATTATACAGTGTTAACGCAGCTTCATCGTTTACATGTATATCACTCATATTGTGAAGAATATATCAAATAGTCGTAATAAAAATATTTTTGAAGAGTAGAGGGAGAAAAGTGTTATTTTATTTCATTTCTTACTACACATAATAAGCACTAAATAAATATAAAATACAAATGCCCTCGTCAATTTTTTTGTTTATCTTGAAAAATAAACTTTTTTCTCATATTGCAAATGATAAGCTAGTTATAATAAGAATACCAGATCAAATATTCTGAAATAGATTTCCACTAAAGGATACTTGATTCCTTCATCATTGCCAGATATTTAAACACTACCTACTGGCTCCAAATTTCTCCTCTTCAAGATAAAAGAAATGAATGTGAATCACCAGCTTTCAGGATAGTGCTTAAAATAAAACAGATTCCTATTAAAACAATTACAATAAGAAAACACTATGTAGTATAGTATAAAGTAAGTTAAAATGACATTTTAATGTTTTAACATTTTAATAACTCATATCTACTTTATAAAATATCATAGTATATGCTATCTGAAGGAGGAACCAATGTTAAATAGTATAAGTCTGTTAGACATAATTAGATTTAGATTCAGTGCTGGTTAAATTGACAAGTTTTATATTTCAAAGCTAACGGTTTTGATACCCATAGAGTTATTTGTGATTCCTTTCTGCTAAATGGGTTTGATATGGCAAACCATCCATGAGCTAAGGAATTTTTAATTGAGTAGTTTGTGTTTTCCCTTTGACAGATGGTGAGCACTTATCCAGATCCTCAAAATGTTCTGTGGTGGACACGTAACTACATACATGATTTAGTAAATTATTGGAACATGATGATGTTTGATGGAATCTGTCTCTACCACCATAGATGACTCATGGAGAACTGAGCCATCACTGTGTGGCAGGTGCCCCCATACTCCACAAGAAAGGGAGAGCACGTGGCATCAGCTCTAGGGACAAGGACTGCATTCAGGCTCCCTGGGGTTCATGATGGGATATCAAAACCACACTGGTTGCTATAGTAACAGTAGCAAGAAGAAAGCAGGCATGCTTGTGGATGAAAAATTATCTTCCTTCTTTCTAAATGTGGGAGGCAGGTTACATGTTTGTGATAGCGATCTATTCTACCAGCTCAGAGAACAAATTGAAGTCTAAATACTCAGAATGCCACAAGGTTGGGAGTCAGGCCTGATTCTCAGAAGCTAGCTGTCCACTTGTGAATATAAGGGAGAGGGATTTTGTTGACACCCTTTGTCTCCTGATGGGTTTTATAAGTTAGAGGACCAACGCAAGCACAGCTGTTACTTTCAGCATCACAAATCTGCTTTGCAGAGAACTGCTATATTAATATATCCACTTTCCAGATCATCTCACAAGCAAAAATGGTAAATGATTAGAAAGATATTTCCAGCTGTTTTCAAAACCGTTTGAGAAAATAAAGTCTTAATTTCTCAGGTAAGATCTCAGAGCAGACGAACCTGTGGTTCTGCCAGGGAATCTCTAAAGCTAAGCCATAAATGAGACTTCTGTTTAATCTTCAATAACCACTTGCTGTTGCAGGCCTATTATGCAATACTCCTCAACAGGGGCCGTCTGGAAGTGCATCTCTCCACAGGGGCACGAACAATGAGGAAAATTGTGATCAGACCAGAGCCGAATCTGTTTCATGATGGAAGAGAACATTCCGTTCATGTAGAGCGAACTAGAGGGTAACAATAGCACTAAAATATTTATTATTGTAACTCAGGTGAACTTCCTTTGCTAGCATCGGTATCTATCAGTATCTGCCTGAACCTCTGTGTGTGTGGACCTACTATGCATTGCAAAAGGATACCGTAGCTTAATTCCCTCTTCTTTACTTTTCATACTTCGGGAACCTCATTTGCCTCAGCCCTTAGGAGTTCTACCCTTAACATTTTTATTCGTGCAGTTATCTCCACCTTTGGAAAAACCAAATGCATTTTCTGAAGCTATAAATAAGAAAAATCCCTCCCTCTGCCCCTCTTAAATATTACCTCCTCAAATAAGGTATGCACACAGCAAAACTCACAAATCAGCTCCACTGGAGCCAGCAGGCTTTGGCGGTTTCTATCTCATTCAGGTTCCAAAGCAGTTATGGCAGCTGCTTAGCTGTCACAGATACAGAGTGTGGCAGCAGCTGCAGGACCTATTGAGCCTATTAAGTGCATATCTTGTCCCTGTCCCCCTTCCCAAGGTTTGCAGGGTCCCTGCAGAGTGGCTTTCTGAGGGAACAGAATCAAGGGAGGGGAGGAAAATGACTGCTGCCCTGAGCCTGGCCACCTTTTTACAAATCTACCAGAGTGCTTGCCCCAGCCCTGGGCCAGGGAATTGGCTTTACTCATGCACAAACTGATGACTTTCTTTAGAATGCTGCAATACTTTATACTTACTTTATTAGGAAAGTCATCTGTATTTTTCATCAAAATATTGTATGACAACTCAGAGAGATAATTAGTTTAGAAGGACAATTAGAGAAAAAAGAAACAGAAGCCCAGAGACTTCAGGGGTTCAGACCTCCAAGCCAGCAATCCATTTATCAGACTGAAGACATAGAAAAGAACTGGAAATCCAATTTGATGAGGCCTCAAAACACAGAGGATACTTTTAAATGCAACGAGTATGAATATGTAGCAGTAGTTCAGCCAAGCCAATACTATCCTGCAGTGAAAGACCTACATTTACTAATTATCCTCTTGGGGAAAACATTTAGATAAGCAATAAAGATTTCTTACCTTCTAAGTAAACAACAAAGCTTTCCTCAGTTTTTATTATTATTATTATTAGGTAGAGGATTAGGCTGTAGGATGAATTGATACAAAGCGTTCATGCAGAATGGCTACTGAGACGTTTAGAAACCATGATCGAGACAAATGAGGGATCATTTATTTGGACAAACTGAGAACTTTTACTAATCTAACAGCCAGATATTGTAGTCATGGTCTCTGAGGAGAAATGCAAACTGAATGCTCTCATTTGAATCTTAGAATGCTTTAGAATCCTGGTTTCACATGTCTTCTAGATTAGATGTTAGGCCCTTTGACAAACTTTAATCCTTTTCATTGCGGAAAGGACTTTTTAAAAGATTTAAACTTTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAACATTAGCCAGACATGGTGGTAGGCGCCTGTAATCACAGCTACTCTGGAGGCTGAGGCAGGAGAAATGCTTAAACCAGGGGGACAGAGGTTTCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCAACTCGGAAAAAACAAAACAAAACAAAAACATTTAAACTTTAAGGAATTTCAATAAGTAACTGCAGATTTGAGAAATTAGTTTACCGAAATCACTCAAAATGTGTTATTTTGTTGAGAAAGAATTCTGGAATTCCCAAATGCATTACACTATTGTACCACTATGCCACTATGTCCTTTTAACAGGTGCTTCTTCAAGAAGGGCATTTTATTATGCCAACTTCACAGCTGTTGACCATCAATCCAACCTTTATTTGATTAAGCTCAGTATATAGTACATCACTGGAAACCAGTCATTTAGTTAATTGGCCATATAAACGAACAGTTTTGCCATTCATTGTTAATTACAGGATAATATATGACATATTAGTGTGTAGTCACTGAACTCTGTGCCAAAACAGTAATACATTTGCTACCATAATGGCTCATTCGGCACTCTAAGGTTAAAATGCAATCTACTCTATAAGCAAGTGCCACATTAAACTGATTGACCAGAGATCGCAAGTGACCATGAGAACTTCACCCAGAAAAAATTTTTAATGCTTTATATGCCTATTCTATGGCATGATTTGTGTCACATACTAGACAAAGATGATTTGTTTTCATTGTTCTGAATGTATGTGAGATCTGTAATAACATCCTTTCATCACAGATGAGAAAATATTAACTAACCTGCCCAAAATCATGTACTACAAATAACAGGACCAGGTATTAAATGAGATGATATATTTGACTTAAATACCTCCATCTATGCACAGCCAATAGATTATTCTTACATTTTTGTGTGACCATAAAGGTTTATATTACTAAATGTTGATTATGATGTATGATTATTAATTTGGAGATATTTGCATTATCCCAACACTTTTCAGATTTTCAGACTATGCATGTCAGTCATCATTTCTTTTCCTAAAATCCTGGACAAAATGATAGCTTTAATACCGCCTCACAAAATAATTGGATTTTCACCAAACTGGGGGCCAAGCTTCTCAAGAAGCTCCTTCTCCCTTGTCCTCTGCCTCTCTTTACTCCTCCTCCCTCATTCTCTCTCCCTTCCACCCCTTCATCTGGAAAAATCTCCCTTTAGTCACTTTGGTATCTAATTTCTTGGCACTCCAGTGACCTCTGCCTCCTATATCTGCTTTGTCCTCTGATCCTTCTCCTGGCATCCGCCTTGGTGGCCAGCAGTTCTTACTGGACAAAAACATCAAACCCTAAGAGCCTGAAGTAGTTACTTAAGCAAATAGGACAAGCAACTGAACTGAGTTTTTCTTCTGGGAAAGCTTTCTTCACACAGGTACAGAAATAGGCTAAAGGTCAGGAAGTAGGGTGAGATATTTTAGGAGTCATTTGGGGTTTCCAGAATGAGATAAAGATTTTAACACTGAACCCTAAATATTTTCTTTCTTAACATCCAAAGTATGTTCAAACAGAAAAAAGATTAGA", "alternateAlleleVcf": "G"}, "hgncIds": ["HGNC:6482"]}
{"accession": {"accession": "VCV000015063", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000016213", "version": 8}, "title": "NM_000518.4(HBB):c.-7305_92+16del AND Hemoglobin Lepore trait", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2005-01-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_000518.4(HBB):c.-7305_92+16del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2005-01-01T00:00:00Z", "dateCreated": "2018-05-09T00:00:00Z", "mostRecentSubmission": "2018-05-09T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_11", "accession": "NC_000011.9", "start": 5248144, "stop": 5255556, "displayStart": 5248144, "displayStop": 5255556, "variantLength": 7413, "positionVcf": 5248143, "referenceAlleleVcf": "GTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTGAAATAAAGTGTTCTGCGGAAGTTTGAATATGTCTTTTGCAAATATCCTGGGTCAAAGAAAATGCACAGACTTTATGAAATTATAATATAGGTTATATTTATAGTATTCTGAAAGACCAAAATTGTCAAAGCAAGAGCTTTGAAATCCTGATTGGCAGAAATTGTCACCTTCTTAAAGACTTACCCTACAACTTCTTATGCTCAGAAATAGTTTTCCTTTTTCTATTTTGTTTTCTTTTTTAAATGATGAACTATGGATCCTTCTCTTGTGTTGGCAACTGCTGCAGATACCATCATCCTGGCTTCAAGGCAGGGGTTGCTTTTCCAATGGTAGTTACTTAGTGTGACTAGAGTGTAACGCAGACTTTTCTTTCTATTACCCATAATACCCTGCAGGGACAAGGCTGCAAGCTATACTAAGACCATCAAAAGCCCAGGCATACCAGGCAAATAAGTTTCAAGAAGCAATAAATAGTGCAAATTTGGTTATGGTCAGAGCCTCAGTTTCAAATCTAAATCAGCATTCAAAGTTCCTGAAAAACTATTCAAGCTTACTGACATCTTCACTATTGTGAGCTTGCTTCTACTCTGTGAATGGATGCCACAGCAGGTGCAGGTCTATTCTACTTTTATTCCAGCCCCACTGACCACAACACACACACACACACACACACACACACACACACAAGTCCTCAAAAAAGAGACAGCGAGAGAGACAGAGGTCCATTTCCTTTACTCCAGTCTATTAATCTTTCTTAAGTCCTAATGTTTTATATCAGAATGGCCCTAGTCTGGGTATACTTAGAGGATGAATATTAACTTCCTCCATGAAAATCATGACACTCATCTATGGGAGTGTGGTTTTATCATTTGTTTCAAAAGCAGCACTTGACTAGAGTATTTTTATACATGCTCTACTGTTTAGTCTAAAATTCCCCAAGTGAGACATTTTAGCAATCTACTGTATATGTTCCTAGGTCAAGCACAGTCTAGCTACTTGCTACAGACTTCTCTCGCAGATACACAATCTCTCAGTAAACACAACTCAGCAGCTCTCAGAATTAATTAATTAAAATGAAATAAAAATGCTCCAAGAAAACCAGAACCCATAGAAACAAACCGCACACACACAAAATAGTTTGGAAATAGGATAGTTTAGTTCACTTTAAAAAGTTGTATTTCTTACCAAAAAGCAATAAAGTCAACATAGACAGAACTTTGCTAAAGTATATGCATAATTATTACAGAAAAATTTATATTTCAGTCTGCACCTTGTTCATTAATATTTCCTCCACTGGGCTCAGATTTTCATTCAGAATTAGCTTTTTTTTAACCTCATTAAGTGGGCCATGGTGTCAATTTATGGAGAGCAGAGGTACAGTCTTCAGATAAATTTGAGATTGCATCTCTTTAGAGGTAGAATCTTGGCTTCAGTCTGAACACCCTTTACAAACATGTAGGCATTAATTCAGAGGACTGCTCTGAAGCTCAAGAGATGGATGATTTAGGAGACTATTAGGCTTAATTCTCCTGACATTAAATTATTTTATTGAAAAATTTTCATGAACTCAAATTCACATTATTACGTCCTCTCTTCCCTTCCTCTCTCCCTCTCTTTCACACACACACACACCCTTTCATTCAGACATACTGAACATAGTTTATAAAGCAACGCCATAGTGAGAAAAGAAAAACAACCATTTGATAAATTATCAAATAAAATTAAAGCCAAATCTTGAGGAATTAATTCCATTCCTATACTTTGTTTTAACTTTCATTTTAAATTTGGGGGTACATGTACAAGTTATATAGGTAAATTGCATATCACTGGGTCTTGATGTACAGATTATTTCATCACTCAGTGATGAACTTAATACCCAATAGGTTCTTTTTCATCGTCTCCCTCTTCCCACCCTCAACCCTCAAGTAGGCCTGGGTGTCTGTTGATCTATTTTTTGTGTCCATGTGTATCATCATTTAGCTCCCACACTCCTAGACTCTTACAAAAGCTCTACTCTAACAAATAATTTTAATATAACAACAAGGTGCCAAGTCTTTTTTCATCTCTTGACCTCCTCATCTTCAATATGAAGATAGCAATGCCTAGCATATAGTAATTGTGTGTGCTCGGCACATGTCCCATCCAGGTGATGTTCTCATGAATTCTCTGGTATTTGGATTTTTAGGGCCAACATCTTGCCTAGACTCACTGACTACTTCTAATGGTGTAGGAATAGAAGGTATAGTAAGCTATATTTGCTCTTTTTTTTTGACTTTTGGAGAAAGGAATGTAGTTTGTTTTCCCTATCAAGATCATAAGGTCTACAATCTCTCTTACTGTCTTTCGAATACCACACAAGTATCTCCTTTTAATATCTTACTCTTATGAGAACTTCCCTATGCTCAGGAATGTGAAAGTGATCTTCCCCAAAATGCCCTGAGTAGCTCTGCTTCTGATATGTAAACCAGTGGTTCCTAAATATCTTATTCAGATATAAAGAGTTCTCAGTGCCTACTATGTATAATGACTTAAGGAAAACACATGGATATAAAAGAGCTTCTGCTGCCAGTCAATTCAAAATGTTGTGATCAAAACAGTTAACTATAACACATTGTCAGTATATTCTGGCAGTACAGACAGAGTTACTGTGAAAGCACTTTCAAACACAAGGAAACAACAGATTCTGTTTAGGTATTCAAGTAAGTTTAAAATTAATCAACATGCATATAATACAGATTTTTAAAAATGTATACAACTGAGAAAGTTCTAAAAATCCTTCTAATTTTACCTATGGCAAAAATGGTGCTCAAGGAAAAAAATATTACTCCTATGATCAGAAAGGAAATAACTGTTCGGTTGTTTACTGCATGCTTCCTCTTTGTATGTTGTAGCATTAACAACAAAGAAACACTGTGCGATGGTATTATTAATATTGTCCTCTAATTCCAGAAGTTCTAAAGCAAGGAATAATCATTCCTTCATTTACTCATTTACTCATTCGTTCATTCATTCACTGTTTTCTTGAATAAATATTTTCTTTCTGCCCATTGATGAATTTAATATGAGGCACAGTAGGCATGTAAGAAGGTAGAGAATAGGCAGAATTGCTTATAAAGCACGGAGTGTGTGTGTGTGCATGAAATAAATAAGAAAAATATAAAAATATAAAAAATGGTGTGGGGGAGGGTTTGGAAAGATTTTTTGGGTAGTATAGAGAAGTTTATTGTGGCTGGGGTCAAGAGAGGTCACAAGTAATACGTGAGCAATGAATCTTGACTGAAATATGGGAAGATAAGAGGAAATTCTTTACAGAGATGTTCTGGGGCAAGTAAGAGGAGGAAGCTATTTCTTGGAGCAGGAACACTTGATGGGGTATAGTATTATGGGCTACAATGTGCAGGCAAAGGAAGGAGGAAGAAAGACAACATAACATTGTCTTGAGTAATCATTATGCCTTTAATTGAGCACATTATTTTCTCAGTAATTGTTGGAGTTTAATCGTAGCATTACCCTTGAGGCTATGTCTTAGGGTTGAGGTCTTCCCTAGAACCTCTGCAGTGCCAGTATTATCTTTGTATCAAGAGTTCTTGATAATTTCTGCTCTTTGGAGGTAGAAGTGTCACCCATTAATGCCTTGTACGGTTCCCTTGCTTTTCTCTTTTCCCATGTACTCTTTGTAAAATAAACAAGTGCTCCCTATCTGTAGAGCCTCAGGAACCTTCTTACACACCTGGACAAAAAAATGAAATAAGTGAAATTAATCAGGAAGTTGAGCTGAACATTCTTTATTAGGCAGAAGCCATACCCTTGAAGTAGGCATTGTGTTCCCAAGTTCAGAAAATAGAATCTAGGGAAATAGGGTCTTCTTATGGTTATCAGGAAACAGTCCAGGATCTCAATGGTACTTGTGAGCCAGGGCATTAGCCACACCAGCCACCACCTTCTGATAGGCAGCCTGCATTTGTGGGGTGAATTCCTTGCCAAAGTTGCGGGCCAGCACACACACCAGCACATTGCCCAAGAGCTGCGGAGAAGAGGTAGGCAGATACATGCATATGGTTAACAGAGAAATAAAGACTGGCTTCTGAGAAACTGAGCCAACACCCATTTTTTTCTGCCCAAATCTTAGACAAAACTGATCCCCAGGTTATTCCCATCAGCATAAATAAGTACATATATGAATGCATACATATAACATATATCTATACACACACATCCTCTATGTACTTAACTAGCATGTAGTCTATATATGTACATATATGCTATATATGCTGTATAATACTATATACAAATTAATTCCAAATTAGTTTTAATTTTGTATGTGTATATAGCATATACAAATTAATTACTATAAACAGATTAATAGATACAAATTAATTGATTAATCAGTGTGATGATGGGCTGTCTCCTAGCAACGACTTCTGCCCCACCTCCAGTGTAACTGCCTAGTCTTTCATAATCAAATATTCACTTTCCTTTCCATTCCATTTACTACAGAATTTATAAAATTCCAATTATTCCTTATTGTAAAATGATTTATAGCCTCTAAAACAGTATTCTATGCCTCTCATCTTTGAGTTGGAGCCTCTCCCATACCCATGTGGAGAGACAAAAGGATTATTCTAAGTGCAGAATTAGCAGGTGAGAGCTGGTATGCATAATTTGAGTTGTTGTTAGAGAAGGAAAAATGAAGGGAGGGGGTTGGGAGAGAAAGACAGGATATTAAATAATTTAAAATAGCAAGATTGTGAGGAAGGAAAAAATGCAGAATATTTAAATAAAAAATTAACAAAATTTTAGAAGCATTAAATGATAAAATATAGTAAAATGACAAAAATGTGGGAGAAGAGCAGGTAGGTAAAAGAACCAAAATGTAAGATTAGAAAGTAAAAAGAGAAAAGTGAAGCATCTCCTGGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGCTGAGAAAAAGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCTAGCACCTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGAGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGTAATCTGAGGGTAGGAAAACAGCCCAAGGGACAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTACACATGCCCAGTTTCCATTTGCCTCCTTGAGCCTCTCTTAT", "alternateAlleleVcf": "G"}, "hgncIds": ["HGNC:4827", "HGNC:4829"]}
{"accession": {"accession": "VCV000016973", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000018493", "version": 29}, "title": "CYP2A6*12A AND Warfarin response", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "drug response", "dateLastEvaluated": "2002-10-01T00:00:00Z", "submissionCount": 1}}}}, {"accession": {"accession": "RCV000018494", "version": 26}, "title": "CYP2A6*12A AND CYP2A6*12A", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "drug response", "dateLastEvaluated": "2017-09-06T00:00:00Z", "submissionCount": 1}}}}], "name": "CYP2A6*12A", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "drug response", "dateLastEvaluated": "2017-09-06T00:00:00Z", "dateCreated": "2017-09-09T00:00:00Z", "mostRecentSubmission": "2017-09-09T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 2}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_19", "accession": "NC_000019.9", "outerStart": 41354669, "innerStart": 41355722, "innerStop": 41386534, "outerStop": 41387493, "displayStart": 41354669, "displayStop": 41387493, "variantLength": 30813}, "hgncIds": ["HGNC:2610", "HGNC:2611"]}
{"accession": {"accession": "VCV000017564", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000019124", "version": 29}, "title": "NM_003418.5(CNBP):c.-14-833_-14-806CCTG[(75_11000)] AND Myotonic dystrophy type 2", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2008-02-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_003418.5(CNBP):c.-14-833_-14-806CCTG[(75_11000)]", "variationType": "VARIATION_TYPE_MICROSATELLITE", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2008-02-01T00:00:00Z", "dateCreated": "2019-11-08T00:00:00Z", "mostRecentSubmission": "2019-11-08T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "start": 128891444, "stop": 128891447, "displayStart": 128891444, "displayStop": 128891447}, "hgncIds": ["HGNC:13164"]}
{"accession": {"accession": "VCV000018250", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000019912", "version": 28}, "title": "NM_001625.4(AK2):c.636_*4953del (p.Ser213fs) AND Reticular dysgenesis", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2009-01-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_001625.4(AK2):c.636_*4953del (p.Ser213fs)", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2009-01-01T00:00:00Z", "dateCreated": "2019-03-31T00:00:00Z", "mostRecentSubmission": "2019-03-31T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "start": 33473829, "stop": 33478866, "displayStart": 33473829, "displayStop": 33478866, "variantLength": 5038, "positionVcf": 33473828, "referenceAlleleVcf": "AGCACCTTTGAGGGGTAGGGATCATTCCTATTCTACTGATGAGGTGAGATAACTTGTCCAAGGTCGCATGGTGAAGTCGCTGTTGAAATCTGTCTTCTGACTCGTTGCTCTGTCTTCATCTGAGGAAAGACTTGTGAGGCTTCTGAGGAGGCTGCTCTCCATCCTGCTGTGTTCTGTCAGTGACACTTTGTGCACACAGGAGATCCTAAGACACATACCCTAGGCCCTCAGAGCCGGCAGTGACTTCTTCAAAATCAGTTCCGGCAGCGCTGAGTGTCCATGGAAAAGAGCTCTTATTCAGAGCAGCCCTTCCTGTGTGCAGAGCTACGCAAGTAATTAAATCACTTCAGCAACAAGATCAAGGGGACGGATAAGTGTTAGAGACTGTGTTTCAGTCCTGACTGCCTCTTATGCATGACCTCAGGAATGCCACTTCACCTCTCTGAGTCTGGTTTCCTCACCTATAAAAGTGAAGGACAGTTCTGACTCCACAGGGTGCTGTGTGAGGGTTACGTGAAGTCGAGGGTTACATGAAGCCTTTGCATAATACCTGGCACAACGTCAGTCTTCCGGGAGTGGTAGGACTAGTCTGCATTCTTGGTTTGCAGATTAGATGAGGAAACCCAGGCCCAAAGAAGCAAACAAACAATAGCTCACCCAGTCTTCTCTGTTTATTCTTCTCAACTACACCATGCTGCTTTGCAGGTTGGTTTGACAAACATTTCCCCACAATTAGATGCATGATGACCAAGGGAGGAAAGAAAATTTTCACAGGGTATTTAAAAAGCTCAGGGAACAAACAGATCAGTGCAAATCAGTAAGGCTAACACCTGAAAATGACTCTGCACAGGTGAGGAAGTGGAGCAGAAGAGGGAGGGGCTGGTTCAGGGAACAGGATTTAATATGTCAGTGAAGACCCTGCCTCTCTCTGTAACAAGATGCCTAAAGAAGAATAGTGGTGCTTCCAGCCCAGCTCCCTCTTGTTTTGGGAACAACAGTCATTTCTCAGAAACCTCACTTGCAAAGGCAGCCCTTCCAAAAACATGAGAGCTTTAGTTTGGAGAAATTATTTAAGCTCACTTTTGCTGGAGAGGAAATGAATTTAAACTAGGACACACAGAGAAGCAACAAAGAGTGTTAAAGAAGCAACTGAAAAGGTAGTCAAAGATCTGGCTTAAGGATTAGAAGCACTGGCTTTCTAGACTATGGACAAGTGTCCATTCAACAGTTATCCAGCCTGGCAGGAAGCAGATATCTTTCTGTGTATATCTGGATCCAACTAACATTTATCCAATGTCTGTTGCATGCCAGGTACTGAGCAAAAACCTTCTTCCTATAAATTTCATTTAATGCCATTAAGGCCAAGAAGGTGGCATAACCAACTTCCTTTTTCAGCTGAGGAAACAGGAGCACAGTGAATAACTAACTGGCTGGGATTTGTCCTAGGTCCCCTGAACTCCAAGCACAGTGCTATCTCCACTAGACCAAGCTGCCTTGTCTCTGGGCTCAAGAGAAGCCTGCATAGGAGCTGAAGGTCAAGAGGTTGCAGGCTTATCTCATATGCACATACTTGGACCTCCCTACCACACAGCTGCCAGCGACAAGAAAGGGCTTCTTTTCCTTCCAGCCAGGTCCAGAATTCAATGTCATTTTTCTAGCTTAGATTATCTAAAAAAAATGCCACAACAGGGGATACAAATTTTAACATATTTTATTGATTTAGGGGCCAAACAAGGCAGCATTTGGTCAGTTAAGAAAGGCACCTCATTGAAAATAATACATCACAGTGCTGTTGAGTGATCCCAGTCACAGGATTTGAGAATGGAAAGGACAATCTTTGGATGACATAGCTTAGGACACTTGCTCATTTATTTAAAAGAGTCCCTTCACACAGTGCAGATAAAAGAAGGCAAGAGCATAGGATTGTGGCATGTGCTGGGTAGCTGTGAGAGGTTACTCATGAAAGTAGGTAGCCTAGTAAATTAGTGGTAAGTCAGGGGAAGGGAATCAGCCTCCCTTTCCATTTCATTCCCTTCCCCCTCCCCTTGATTCCAGTTTGCTTGATTTGTTGAGCCACCATCCCTATGAATACACCTTACATCTCTTTCAAATGTGGAGATGGTTTTTTGATCTTACAGTGTGTGGAACCGGAGTCAGTAATCAAAGCTCCCTGTTCCAAGCTATAGACAGACAGGACAACAATTTGATTTCCTGTACTCTTGGTCTGGAACCCATGGGGTTCTGAGATAAAAGCTGAGGTCTTAGAGCACTGGCTTTAAAAAATATTTTCACCAGTCCAGAGTAAATGAAAACCCGATTCCTTAGAAATAATATTGTGTCTATTTCTACCCCCACCCTCCAAGCATGGTGTTTTTTAAAAAATTAATTTTTCCCTTACACTTTAAAAACTCTCACCTATGTATAAAAGAAACTGCCACACTACAATAACACTGCTGTTGTTCCAAGTATTCCTCTGAGCCCCTCACCAGCCCTCCCTCACCATCCTCACCCTGACCACCCTTCCCCTCTGCCCAGCACCTAAGAGCAGGGATCACGCCGCGGGGTGATGAGCAGTGTTGCAGTCTCGCCTGGCCTTCTGATACTAGGCTGAAATAGAGAGGAAACAAGAGAGAACAAAATGGGTTTTTAAAAACCAAGTACATATCAGAGGAGGCTGGCATGTAAGCCCCAGCAACCAAATGCATTAAACACTGGACATTTCTGTGACAGGTAAAAGCAGAACCTGCTGAGGCTGAGGAACTCTGGAATTAAATGAAGCAAAAACAGAATCCTAACCATACTGAGAAGGGTATATGCATTCCCTATGAATCTTCCAGTTCTTATGGGCAGCCCAAATATTACTTGTACATGTTGTATGCACACGTGAATCTATGTGGACGGATGACAAATATTTGGGCAAGGATCATGCACATAAAATTAGCAAACATTCAAGAACCTCAACTTTGAGGCCAAGTGCTTACAATTGTCCCTAGTTAAAGGGGAGCTGATTCTAAGATTCATGATGCCACTGTCACCCAGAGAAGGATCCCAGACCAGGCACACATAGCTGACAGTTTTTGTTTCACTCCTCTTCCTTGCCCATTCCCAGAAGTCATGTGCTTCCCAGAAACACACAAAGCCAGACTGAGTTTCCATTAAGAGTGGGTGGAGTTGGTTTAGAGCCAGGAAAACAAGGCAGGACAGAGGCAGCAGACACTCACTTGGACCAGGCAAAGAGGGAAGCAAGGTGGCCAGGTACTCATGCCCAGTTGCCATGTGGACAGCAGATAAGACCTCTGGTAGTCTCACAGATGGCAGGAGAGCTCAGGTCAGGAGGCTGGGCACTTTAGAGTCCACTGAATCGAGTCAGCAGCAGATTATGCTGAGGCTGGCGATATTATTTACTGGATCTGCCACTGACTTTCTAATGGTTTTTCCAGAGGCTGCCGTTTTTGTGGTCCTTCATAGCAGTCTGTTACTTCATCTGTTTGCCACAAATCAAACCAGAGACCAAAAGACAGCAGGGACCTTAGAAAATGCTCAATAGTTGGGAAGCTAAGGTTATGAATAAAAGCTGGTAACTGTCACAGGTGGTCTTATTTCTGGGTGATCTTTTCTTGGGGAAGTCCATGGCTATAGCCATCATAAAATTAGGGGTGAAGGGTTGGATCTAGAAAGGAGAGGGTTTGGGCTTAAAAAGAACATATCTGATTTCAGTTTTATGTCCTGGAGAGAGACTGGGTTTGAATAAATACTGATCAAAATGAATCCAAGAATAGATCACACACTGTTTTGTTCACACTTGGAAACACAGGCAAACATTAAAAATAAAAGCAAATAAACCTACCCTGGTCTCTTTTTGGGGAAGTAGATTTGACTGCTCTCAGATGATCAGCCTGGATGTTCAGAAGACAATCTGAATTCAAAAGGACCTTTCACCTGGTTTAATTCTCTGGCAACAATTCAGTTTTCAAACCCAATTCCCAAATAATTGCTATTTTCAGCATCATGATGCAGATCACAAAAATATTCCAATTTGGCCTGGCTCTTTTTATGACGATATCCTCTCCCAGTAATTTCTGTAACCTGCAAAGTAAGTGCCTTTTTCCTTCCACCTAGGGGGAAAAAATTAATGATCCCTGTTCACACACTGACTCACGTGGGTTTTCATCATGGGTTAGAAAACAAAATGGAATTCTCTGTCCATAATGTGCCATCAGGAACTGTGACCCTGCCTGACTTCACATGATCCTGGACTTCTAATCAGCTGCTGGAAATGGAAGAAATACTATGAGGTTCTGGAATTGCGGTCCCTGGAAGATTACCTGGGTTAGTTCATTTTGGTCAAAAAATAAAATCAAAAGTATGGTTAAAGAAGTAAACAGCTGGGCTGGGTGTAGTGGCTCACGTCTGTGATCCTGGCACTTCAGGAGGCCAAGGTGGGTGGATTGCTTAAGCCTAGGAGTTCAAGACCAGCCTGGGCAACTTGGCAAAATCCTGTCTCTACAAAAAATACAAATATCAGCCAGGTGTTGTGGCATGCACCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGTGGGATAATTGCTTGAGCCCCAGGAGGCAGAGGTTGCCGTGAGCCAAGATCACGCCACTGCACTCCAGCCAGGGTGGCAGAGCGAAACCTTGTCTCAAAACAACAACAAAAAAGAAGTAAACAGCTGGTAAAGCAACCTAGCCTAAAACTTACAAAGTAGCAGAGTGAACACATATGTGCATGCACACACACACACACACAACACACATACACACAGATGAGAGTAGCACACACGCCAAAGATACATCAAGCAAGTGCTTTTTTAATCAATACATCAAATGATATTTTTGCTAGCCTGAGGAAGCTTCTCTTTGCCTGTCCTATCATTCCCACCCATTGCCTCACAGGGATGGAAAGAAATTCCTTCTTGGACCCAACATTAGATAAACATAACCAAGTCTTTACATGTGGCTTTGGAGAAGGCTGCTAGGATGCTTGCGAACACGACATCGGGGGTCTGGGAT", "alternateAlleleVcf": "A"}, "hgncIds": ["HGNC:362"]}
{"accession": {"accession": "VCV000021089", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000020179", "version": 2}, "title": "NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del AND Hemolytic uremic syndrome, atypical, susceptibility to, 1", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-03-10T00:00:00Z", "submissionCount": 1}}}}], "name": "NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2011-03-10T00:00:00Z", "dateCreated": "2013-04-04T00:00:00Z", "mostRecentSubmission": "2013-04-04T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "outerStart": 196712876, "innerStart": 196712928, "innerStop": 196797494, "outerStop": 196797546, "displayStart": 196712876, "displayStop": 196797546, "variantLength": 84567}, "hgncIds": ["HGNC:4883", "HGNC:4888", "HGNC:16980"]}
{"accession": {"accession": "VCV000039494", "version": 3}, "rcvs": [{"accession": {"accession": "RCV000032690", "version": 5}, "title": "NM_018112.3(TMEM38B):c.454+279_543-5092delinsAATTAAGGTATA AND Osteogenesis imperfecta type 14", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2013-04-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_018112.3(TMEM38B):c.454+279_543-5092delinsAATTAAGGTATA", "variationType": "VARIATION_TYPE_INDEL", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2013-04-01T00:00:00Z", "dateCreated": "2019-09-08T00:00:00Z", "mostRecentSubmission": "2019-09-08T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "start": 108484281, "stop": 108505262, "displayStart": 108484281, "displayStop": 108505262, "variantLength": 20982, "alternateAllele": "AATTAAGGTATA"}, "hgncIds": ["HGNC:25535"]}
{"accession": {"accession": "VCV000039782", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000033004", "version": 26}, "title": "NM_017410.2(HOXC13):c.-24497_736+2389del AND Ectodermal dysplasia 9, hair/nail type", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2012-11-02T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_017410.2(HOXC13):c.-24497_736+2389del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2012-11-02T00:00:00Z", "dateCreated": "2018-06-04T00:00:00Z", "mostRecentSubmission": "2018-06-04T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_12", "accession": "NC_000012.11", "start": 54308194, "stop": 54335815, "displayStart": 54308194, "displayStop": 54335815, "variantLength": 27622}, "hgncIds": ["HGNC:5125", "HGNC:43753"]}
{"accession": {"accession": "VCV000040972", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000033864", "version": 3}, "title": "nsv1067844 AND Hermansky-Pudlak syndrome 6", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2012-10-11T00:00:00Z", "submissionCount": 1}}}}], "name": "nsv1067844", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2012-10-11T00:00:00Z", "dateCreated": "2013-05-03T00:00:00Z", "mostRecentSubmission": "2013-05-03T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "start": 103822591, "stop": 103842542, "displayStart": 103822591, "displayStop": 103842542, "variantLength": 19952}}
{"accession": {"accession": "VCV000041329", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000034230", "version": 3}, "title": "NM_025137.4(SPG11):c.5867-3237_6478-451del AND Hereditary spastic paraplegia 11", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2013-01-31T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_025137.4(SPG11):c.5867-3237_6478-451del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2013-01-31T00:00:00Z", "dateCreated": "2013-05-03T00:00:00Z", "mostRecentSubmission": "2013-05-03T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_15", "accession": "NC_000015.9", "start": 44862154, "stop": 44870476, "displayStart": 44862154, "displayStop": 44870476, "variantLength": 8323, "positionVcf": 44862153, "referenceAlleleVcf": "GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGAACGGCTTTGCTGTCCTTAAATGTGACTCTCAAGTGCTAAAGTGCCATTCTCCTGGGCAGGCACTCTTCCTCTTTTCACCACTACTCATGACAGTGGCCCAGTAGCTTGCTCAGCCACTCAGGTCAGTTTCAAGCCCAGAGAATTTAGGGAGGCACATGGGAACTGAGTTGCCGACTTACTTCAATTCAGAGATGGGGGGAAGGTCCAAACCTTGTTTTGGGGAAAAATGCAGCTGTCTTAGCCCTCTATCTAGAAAAGTTAACTGCCCTGACTAGGGGGTGGGATGGCCCTGGAACCTGGGAGGGATCTTCTCCCTTTCGCTCCTTTGGAGCAACCTCTGATTCTGACAGAAATGATAACTTGGAGCAGAGGGTTGGGCTGCCCAGCCAACTCTCAAGTAGGTAGTGGTATCCAGATGGGCAGAACCCCCTACGACTACATCAGCTCTGGGCTGGCTCCCACCCTTTCTACTACTCTCAAAGGTTTCCACAGGATGGAGACTGGGGTTGAGGGGGCTACTTACCACCAGCCCATACTCCTCACTGGGGGCCAGGTGGTTATCTGTGAGCATGTGGGCGGCCTGTAGGACTCGGATGATGCCCTCCATGTGGCACGTCAGGGTGAAGCAATGATGGGCCAGGATCAGGAGCTCTGTGGCTGGGAGGGTGGGCACTGGTAAGATAAGATTATGAACCCTGGCTGCCCACTGTCAACCTCTGCCTGGCAGGAGGGAAAAAGGGCCTGGTGGAGAAGGGGCCTGTCTGGAGAGGGCCGTCCCATCAGCCCTCCGAAGTCCCTGAACTTAGCAGCTGTAGCTTTGAGACAGCCCCTTGATGACATCCAAATCATTCTCTCAGTCATGGCACAATCCTCAAAGACAATCATGTAGTGACTGTTTCCCCAAAAGGCCCCCAAAATGAGAACACAGCACCCTCGCCTTCTAAACATGGAGAAACTTTCTGCAGACAAACTGATGGAGTTCCTGCCAACATGAATCCAAGGGCATTCTCTGCTTGTATCCCAGCAAAAGGTCTCAGGGCCTAATCAAGTGCCATTTGGTGTTCTGGCTTTCTAGAGTAGTGAAAGTCTGACATGTACAGATTTAAAAATACTACAATCACTGTAAGCACAATGAAAAGGCAAACTGGGAAAAACACCTGCAATGTGAGGACTGAAGAAGGTTCTCCATCCTTAAAACATGCTGTAGCCTCTGGGCTTTTGCATCTGCAGGGCCCTCTCCAGTCCTACTGACTCCTAAGCATCCCTGACAATGAATCCTTCAGGCCTTCGTTTGGACATTTCGTCCAGAACTCTATCTTGACCCCATCATTCTGGCTCTTACTGTGTATTAAGACCCTAGTCTGAGCTCCAGGAATTGCTTATACACCATATCCTAGATGCTTATAGTGTCTGGCACAAAGTTGGCACTCAGTAAATACTGTTGAACTGGACCGAGAAGAGATAGAGAAGGCTATTTTTATTTAAATTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGGCTTGCTCTGTTGCCCAGGCTGGAGTGCAGCGGCGCCATCTCCACTCACTGCGAGCTCCACCTCCCGGGTTCAGGCCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCAACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCGCCTGGCCTTAAATTTCTTTTAGAGATGGATCTTACTCTGTTGCCCAGACTAGAGTTCAGTGTTGCAATCACAGCTCATTGCAATCTCCAACTCCTGGGCTCAAGGGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGACTACAGGTGTGCACCACCATGCCCCGCTAAGTTTTTAAAAATATTTTTAGAGACAGGGTCTCACTATGTTGCCCAGATTGGTCTCAGACTCCTAGTCTCTAATTATCCTCTGCCCTCGGCCTCTCAAAAGCATTGGGATTACAGGCGTGGGCCACTGTTCCCCATTCTAATATACAGTTTTTCATTATATATAAGAAATCTGTGTAACCATTAGAAGTTATATAGAAGAATATTCAATGCCATGAAAAATGTTAATGACAGCATATTCATAAAGTAAAAAAATTATAAACTATACAGAGTATAATGTCATTTTTTAAAAAAGAGAACTTATCACACATTCTAATGAAGGCCTATAATGAGTTAGACATTATGGAAAATAAACAGGCTTTGAATCCATGGACTGGGTTCAAATACCAGCTCTGCCACTTAACAGATGTAATCAGCTTTCCTAAGGTAAAGTTTGTCTCCCTTCTAGGGGACAATAACGTTCTCTTTGCAGGGCAATATAAGAGTGAAATAAGTATGTTGAGTAAAGGTTACCTTTTTGTATGATTTTAAATTTGGGGGTACTCATCCATAATTTCTAAATTTTCTTCAGTGAAGTTAAGGCTTTCTACCAAGAACTTATAACTCCTGCTGGAGGGCTAGGCATCCAGAGCAGGAACAGGGACCCAAATCAAGTTTTGGAGAGACTGGGAGACCTTTTGAGACCTGTTTAGGGCCAAAATATGTAAGAAAAAGGTCAATAACTTACTGCAAGACAGTTCCCCATGGGGAACGGAGGAAATCTTATCCAACAACTTCATGCCTACCAATGTGCGGTCTTGACACAGAGTGGTCAGCTGAAGAAATGTCTGGCTTTCCTCTGTTGGGTTGAACATCTGCTTATGTCCTGTACAGAGAGGTGTGAAGACAGGTGCTGGTTTTATCTAAGAGAGGCCCACTCTGCCCAGGCTTAGGCACCAGGAGGTAATGCTTATGGAGCTCTGCAGCTCTCCGCTTGCTGAGCTTGAAACCCTTGGCCTATTGGTCATTTTATAGGACAGGAGTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGGGTGATCTTGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCAACACGCCCGGCTACTTTTTTGTATTTTTAGTAGAGGCGGGTTTCACTGTGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCTGCCAGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGGACAGTTCTTTAGCTCAGAAAGCCACAGCTACTCCCAGTGTAATCATAAAACAATAAAAAGCAACAGCATGTATTTTGTACATGTATTTTGTAAAAAATAAAGCATGTATTTTGTTTTATTTAAACAAAATACATTACTGCAATCCAGAAACTTGAGAGAACCACATACAGGATGTATATAAGCACAACATCCAAATCCTTAACACTGGGAACTAGAGAATGCTGTCAGAGAGGTTGGGAATCCCCGGGGGGTAGGGCACCTGTTCCCTGTGATGAAGTAAGCAGCTCCCGTGTCACCTCTTCTGCCACGAGTTCAGCCACAGTATCTGGCTTAAGGCCCTGTGTGCTGATGAAGGCCTGGGCTCGTTTGCATCGGTCAGGCTGCTGAGAGGCCAAGATTTTCCGGAGCATGGCTTCACCATCCTGAGCAGCAACATCTGTGTAGGAACAGCCCAACTCCTGAGAGGAAGACAAAGCCAGTCAAGGCCACTTTTAGAAGCCAGGAAAAAGCAAAAGAGCCCTTTCTGAAATCTGATGTGGACAGACTCCACTGTATTCTGAGCTTACAGACTCCTCACCCTCAGCAGGAACCTTAGAAAAAGCAAGTACTGTTTTCTAACCCTTTCTATCATTTCACCAAAGCCAAATCCAGGTAAAAGAAAGGCTTGTATTCAGAAAGCATCAGGTTATTCTCTTGTTGGACACTTATTTTTTTGGCGGCAGGGTTGGGAGGGGTGGCAGAGTTTCACTCTTGTTGCCCAGGCTGAAGTGCAATGGCACAATCTTGGCTCACCACAACCGCTGCCTACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGCAGCTGGGGTTACAGGCATGTGCCACCACACCCAGCTAATTTTAGTATTTTTGGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGCCCTCAAGTAATCCACCCGCCTCGGCCTCCCGAATTGCTGGGATTATAGGCATGAGCCACCATGCCCAGCCTGATTTTTAAAAATATTATGAAATGTAAGAACACCGACTAAAATACGAGAGCCTTTATTATTCCCAGAGCAGCAGCAAAACCCTCAATTTCCAAAGAAGTCTTTGAGTCTTCTCCAAGACGAGGGCTTTAGGGTTTGGCTTTATTTCTCTTGTGCTCTTCTACTTCCAGTCTACTGTTTTTCTCCCCCAAGCAGCGCAAAGGTACAGACGATTTCTGCTTCCTCTGGCTCTTGTCTTTATAGTCATCACATTCCATATGGAATGCTCCACACAATCATAATGCAAAACCCAAGATATTAAGTCTAGAAGAGACCCTCATGGTCAAATCATCATTTATAGATGACGAAACAGGGGCCCACAGCCCTAGCTTTCTGGTTTGCTGAGCTGCAGCCAGGAGTCAGATCGCCCTGGCACCTGGCCTGGTGTCCTCCCCACCATTCCCCAAAGATAAAATTATGAGGGCCAACATCCTGATAAGAGCTCTACTCCCAGGTCATGATTATCATCTAAAAGGCTGACTTGGCAATGTCCAAAATCAACCTCAAACTTCTCATTTCCCTCCCTCTCAGAAAGAGGAGCCCCACCCCTTGGCACATACCTTGGCAAGATCATACAGACAGAGGACCTGTCGACAGTAGTTCTTCCCATGGAGGCATTTGCTTGTCAGCACTTCCAGGTTAGTTACCACTTCATTACTGGAGGGCACTGTCACAAACTTCTGACTATCCAGACTTGAAGCTGGAAGCAAATACAAGTCTGAGGGGCTCTAAGCTGGGAGGTTCTGGCCTCTCCCTAGCTCTCTATGGCTCTACCTCTCTGCTTGAAGCTCCCTGCACTGCACTCCCATTACTCTGACTGGGGATAGGACCACTGCTGACAGGGCCCCACCTCAACTTCTTTCATTGCCCTCTTCCAGGAAATCCCACCCTGGGATACTTCAAAGACCTCATATGCTACAAAGATCAAGGCCACCTAATGAGTGCTCTAGAGATCAGCACCAAAGATGCTTGCCAGAGTCTTCTCTATATGTCCTCCCTCCTGTATCAAATAAGTCACCAAGTATAGCTGACTATCTCCATAACATCTCTCCAGTTGTGGCCTTAGTTCCAGCCTTCATCACTCTGCATTCTGAGGAGCTGTTATCTGTCTCCTGCTGCCAGCCCCTCACCCCCAGTCGGTCTCCAACATACTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCAGGGCTCAATAGATTCTCGTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCTGGCTAATTTTTGCATTTTTAGTTGAGATGAAGTTTTGCCATGTTGATCAGGCTGGTCTCAAACTCCTGGCCTCAACTGATGCATTTGCCTCGACTTCCAAAAGTGCTGGGATTACAGGCATGGGCCACTGCACCCACCTGCAAATATGCTTTAATTTATAGTAAAATTAAAATCTATTCCTGATTTTTTTTAAAACGAAGCTCTTGGACGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTTTCTACTAAAAATTTAAAGTTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGCTCTTAGCTTAAAATAGGAGAAGATATTAATTTGATAAAGGGTTTCTATTAGGAAAAAAAAGTAAGGAATATTTATATCACACTTTGTAATGGCAAAAACAAAACAGAAAAATTTAAATGTATATCAATAAAGCATTATTCAAGCTTAGTACATCTGTACAGTGGAATACTCTGCAGCCATTAGAAAGAAGGGGGTCAGGCCAGGTGTGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAACTACAAAAAAATTAGCTGGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAGAGAAAGAAGGGGGTCTATCTATATGTACTGAGAGGACAAAAATGTAGATCAATATGATGTAATCTCATTTTTTGTAAAAAATAAATATTGTGTTGCTTACAAGTAGAAAATGCATACCAAGCAAGTAAAAGATAGTTATTCTGGGGAATTTTGTGGGAGTAGTGTTGAATTGGCTTTTTTTGTGTGTGATGAAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGTGGCACCATCTCGGTTCACTGCAACCTCTGCCTCCTGAGTTCAAGCGATTCTCCTGCCTCAGACTCCAGTGTAGCTGGGATTACGGGTGTGCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGATATGAAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGTCTGAACTGACTTTTTACTTTATGCGTTTCTATGTTATGTGATTTGCTACACTAAGCACAATTTTTATTTTAAAATATTATTAAAAAGTGCTGTAGGCCAGAGGTGGTGGCTCATGCCTGTAATCCCATCATTTTGGAAGGCTAAGGTGGGAGGATCCCTGGAGCCTAGGAGTTTGAGGCCAGCCTGGGCAACACAGTGAGCCCCCACTGCTACAAAAAATTTAAAAATTAGCTGGGGATGGTAGTGTGCACCTGTAGTTCCAGCTACTTAGGAGGCTGAGGCAGGAGGACTGCTTGAGCCCTGGAGGTTGAGTCTGCAGTGAGCCATGTTTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCCCTATCTCAAAAAAAAAAAAAAAAACAAAACAAAAACTCTTAAAGATAAAAAAATAAAATAAAATAAAATGCAACTCAGACCATGCTATTCCCCTGCTTAAATCCTTCACTGAGAGTTCCAATTCTAGGTAAGTTGGTTATAATAAGCTCAATCTACTGTGTCTTTCCCACTGAATTCAATACAAAACCTGGACATAATACATGTGGCATACAAGGACTCTGGAAAAGTAAAAAGTAGCAGGCAAACTGAAGATGACCAGAATTATCATTATCCCCCCTCTAGCAAGCTCTGGCCTGAATGCAGCGCTGACTAAAACCTAAGAACTAAGGGCTGAGGTGAAGTGTGAGTGCGAGAGTGTGTGAATTCCAGAAGCTCTCTAGTACCAGTTTGAAGAGTGGAAAGGGGAACTCCTAATTCCTGTTCTTCCTTGTCCTGGCTCCCAAGCAAGCCACTGGCAGTGGTGGGAGAGGCTGCAGTGACAGCAGGCAAGAGCTAAGGCTCTCAGAAAGGGGAGCCTTCTTTCCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCATTGGCGTGATCTCGGCTCACTACAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGACTATAGGCGCCCGCCACCACGCGTGGCTATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTGACCTCATGATCCGCCCA", "alternateAlleleVcf": "G"}, "hgncIds": ["HGNC:11226"]}
{"accession": {"accession": "VCV000053703", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000577052", "version": 2}, "title": "NM_000492.4(CFTR):c.3281_3367+268delinsTGTTAA AND Cystic fibrosis", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2019-12-23T00:00:00Z", "submissionCount": 2}}}}], "name": "NM_000492.4(CFTR):c.3281_3367+268delinsTGTTAA", "variationType": "VARIATION_TYPE_INDEL", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2019-12-23T00:00:00Z", "dateCreated": "2018-01-25T00:00:00Z", "mostRecentSubmission": "2020-06-22T00:00:00Z", "numberOfSubmitters": 2, "numberOfSubmissions": 2}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "start": 117251776, "stop": 117252130, "displayStart": 117251776, "displayStop": 117252130, "variantLength": 355, "positionVcf": 117251776, "referenceAlleleVcf": "CAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC", "alternateAlleleVcf": "TGTTAA"}, "hgncIds": ["HGNC:1884"]}
{"accession": {"accession": "VCV000053981", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000577753", "version": 1}, "title": "NM_000492.3(CFTR):c.4_53+69del119ins299 AND Cystic fibrosis", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_CLASSIFICATION_PROVIDED", "description": {"value": "not provided", "submissionCount": 1}}}}], "name": "NM_000492.3(CFTR):c.4_53+69del119ins299", "variationType": "VARIATION_TYPE_INDEL", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_CLASSIFICATION_PROVIDED", "description": "not provided", "dateCreated": "2018-01-25T00:00:00Z", "mostRecentSubmission": "2018-01-25T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "start": 117120152, "stop": 117120270, "displayStart": 117120152, "displayStop": 117120270}, "hgncIds": ["HGNC:1884"]}
{"accession": {"accession": "VCV000057627", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051361", "version": 6}, "title": "GRCh38/hg38 22q12.3(chr22:33754145-33786313)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 22q12.3(chr22:33754145-33786313)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_22", "accession": "NC_000022.10", "innerStart": 34150132, "innerStop": 34182300, "displayStart": 34150132, "displayStop": 34182300, "variantLength": 32169}, "hgncIds": ["HGNC:6511"]}
{"accession": {"accession": "VCV000057607", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051340", "version": 4}, "title": "GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_12", "accession": "NC_000012.11", "innerStart": 116457223, "innerStop": 116492163, "displayStart": 116457223, "displayStop": 116492163, "variantLength": 34941}, "hgncIds": ["HGNC:22962"]}
{"accession": {"accession": "VCV000057653", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051388", "version": 4}, "title": "GRCh38/hg38 Xq13.2(chrX:73835373-73839625)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq13.2(chrX:73835373-73839625)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 73055208, "innerStop": 73059460, "displayStart": 73055208, "displayStop": 73059460, "variantLength": 4253}, "hgncIds": ["HGNC:12810"]}
{"accession": {"accession": "VCV000057654", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051389", "version": 5}, "title": "GRCh38/hg38 Xq21.1(chrX:79350406-79835322)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.1(chrX:79350406-79835322)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 78605903, "innerStop": 79090819, "displayStart": 78605903, "displayStop": 79090819, "variantLength": 484917}, "hgncIds": ["HGNC:6173"]}
{"accession": {"accession": "VCV000057691", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051429", "version": 5}, "title": "GRCh38/hg38 Xq28(chrX:149493233-149500929)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq28(chrX:149493233-149500929)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NW_004070890.2", "innerStart": 5017631, "innerStop": 5025327, "displayStart": 5017631, "displayStop": 5025327, "variantLength": 7697}, "hgncIds": ["HGNC:5389"]}
{"accession": {"accession": "VCV000057692", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051430", "version": 6}, "title": "GRCh38/hg38 Xq28(chrX:155828359-155979369)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq28(chrX:155828359-155979369)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 155058022, "innerStop": 155209034, "displayStart": 155058022, "displayStop": 155209034, "variantLength": 151013}, "hgncIds": ["HGNC:11486"]}
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{"accession": {"accession": "VCV000060084", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000053956", "version": 6}, "title": "GRCh38/hg38 3p14.2(chr3:60460013-60532126)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3p14.2(chr3:60460013-60532126)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 60445746, "innerStop": 60517859, "displayStart": 60445746, "displayStop": 60517859, "variantLength": 72114}, "hgncIds": ["HGNC:3701"]}
{"accession": {"accession": "VCV000060110", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000053983", "version": 5}, "title": "GRCh38/hg38 2p16.3(chr2:50485201-50531213)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2p16.3(chr2:50485201-50531213)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 50712339, "innerStop": 50758351, "displayStart": 50712339, "displayStop": 50758351, "variantLength": 46013}, "hgncIds": ["HGNC:8008"]}
{"accession": {"accession": "VCV000060336", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000054214", "version": 5}, "title": "GRCh38/hg38 Xq21.1(chrX:80629216-80762500)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.1(chrX:80629216-80762500)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 79884715, "innerStop": 80017999, "displayStart": 79884715, "displayStop": 80017999, "variantLength": 133285}, "hgncIds": ["HGNC:17342"]}
{"accession": {"accession": "VCV000060453", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000054353", "version": 5}, "title": "GRCh38/hg38 Yq11.222(chrY:17473635-18712542)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.222(chrY:17473635-18712542)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 19585515, "innerStop": 20874428, "displayStart": 19585515, "displayStop": 20874428, "variantLength": 1288914}, "hgncIds": ["HGNC:1810", "HGNC:23921", "HGNC:37736", "HGNC:37737", "HGNC:23955", "HGNC:37135", "HGNC:18568", "HGNC:32425"]}
{"accession": {"accession": "VCV000065491", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000055678", "version": 2}, "title": "NM_002529.4(NTRK1):c.1354+13_1634del AND Hereditary insensitivity to pain with anhidrosis", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2008-08-05T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_002529.4(NTRK1):c.1354+13_1634del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2008-08-05T00:00:00Z", "dateCreated": "2013-10-02T00:00:00Z", "mostRecentSubmission": "2013-10-02T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "start": 156844810, "stop": 156846190, "displayStart": 156844810, "displayStop": 156846190, "variantLength": 1381, "positionVcf": 156844809, "referenceAlleleVcf": "GGGCTGCAGAGGGCTGTCTGTCTGTCTGTTCTCCTGGCTTTGTTTCCTACTGGCTCTTCCTGACTCTGTCTCTGGGGGGCTGTGCACATGGGAGTTCCAGGGCGTGTGAGTGTGTTTGGGGTATAAATGAAGGCCTGGCTGTGAGGCTTGTGAGTGTGAGTGTGTGTGGGAGCGTGTGTCGGGCTGGTGCTGGGGTAGTTTCAGAGGCGGCAGCTGCTAATTGGTGGCTGGATTGTAGTCAAGCATTAAGTGGGTCTGGGAGGTCTGGGCTCTGTGGGGGTGGAGGGGGAGTTCTTTGGTGCCCATGGGGCCAGGGGTGGGACAGGAGCCAGCACAGGGAGAGGCGGTGGTGCCCCCTTCCCCCTGCCTGCTGTCTCGCTCCCTAGCTTCTCAGTCTCTCCCCTGCAAGTTACAAGGTGGGGGTGACCAGGCATCCTGCAGGCAAGGGTGGGCAGGGCCAAGGTGTGGGCAAACCCCTCCATGCGGCTGTGTCTCCTCTCTAGGCCCGGCTGTGCTGGCTCCAGAGGATGGGCTGGCCATGTCCCTGCATTTCATGACATTGGGTGGCAGCTCCCTGTCCCCCACCGAGGGCAAAGGCTCTGGGCTCCAAGGCCACATCATCGAGAACCCACAATACTTCAGTGATGCCTGTGAGGGGCTATGCTGGGTCAAGGGCAGGGACGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAAGCCCCTAGGCCTGAACGATCCCTCCCTTTCTCCCACCCCTCCCCAGCCCTATTCCAGCCATAGGCCCTGTCATATTCTTCTCAGGCTGAGTCCAGCCTGGCTCTTAGCTGCATCCCCTGCCCAGAGTCACAGCTAGCCCAAACCATGTCCTCTCGGGGCAGGTGCAGCCCCACACTATGACATGGGGCTTGCTGAAGGGGTGCAGGTTGAATTTTAGCCCCCATGCAGTCCCTCGTCTGGGCAGCCTTGTGCAGCACACAGCCCTGCCAAGACAGTCCCCGCTACAACCCCAGCCCTCCCAAGACTGGGGCTACCGTCTGACCCTGCAAGCCCCCTCAGGTGTTCACCACATCAAGCGCCGGGACATCGTGCTCAAGTGGGAGCTGGGGGAGGGCGCCTTTGGGAAGGTCTTCCTTGCTGAGTGCCACAACCTCCTGCCTGAGCAGGACAAGATGCTGGTGGCTGTCAAGGTGAGACCCTGCCCCGGGGGGTACTGCTGGCCTGGGTCCCACCCCCAGGAGCTCCATCACATCAGGACAGAGTGGGGGGAGATGCAGAGGGCTGACATGGCTGGATACCGGGGTGGGCGGGCTGCCCTGGGTGAACAGCAGTGAGGGCTCGGCCCCCAACTCAGTCCTGTCCCTGCCGCTTCCATCCA", "alternateAlleleVcf": "G"}, "hgncIds": ["HGNC:8031"]}
{"accession": {"accession": "VCV000066044", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000056283", "version": 3}, "title": "NM_018076.5(ODAD2):c.382+995_936+335del AND Primary ciliary dyskinesia 23", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2013-04-03T00:00:00Z", "submissionCount": 2}}}}], "name": "NM_018076.5(ODAD2):c.382+995_936+335del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2013-04-03T00:00:00Z", "dateCreated": "2013-11-30T00:00:00Z", "mostRecentSubmission": "2015-10-11T00:00:00Z", "numberOfSubmitters": 2, "numberOfSubmissions": 2}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_10", "accession": "NC_000010.10", "start": 28270060, "stop": 28275320, "displayStart": 28270060, "displayStop": 28275320, "variantLength": 5261, "positionVcf": 28270059, "referenceAlleleVcf": "TAGAAATAGCAGATCAGAGTTAACCAGGAAGTCAGGGAAGAAGGAATGGGGAATTATTGCTTAATGGGTGTAGAGTTCAAGTTCGAGAGACGAAAAAGACTTGGAAATTGACAATAGTGATATTTGTACAACATTGTGAATGTAATTAATGCCATTGAACCCTGAACAATGATACTACATTTACAGTATTTTTATGTTATGTTATGTTGTAAAAAAAAACCACTAATAATAAAAAGTGCCCAAAAATAGGCAAAATTACTGTTTTTCTTGTACCATAGAAAGTTGTAGTTTAGTAACATAATGCTATGAAAGCTCAAAAGAAACCATAAAACTTACCAATTTAGACATATTTTCTGAAAATTTTGGTGATTTTTCTCTTAAAAATGTGACAAGGTTTTTATAAATTGAACCTTTTCTCTCATAATTAACGTCCCCTTCATCATCTGTTTTGCCCTTTGGGAAAAAACAAGTTTCATTCTATGATTAACATAAGAACAATTGTAAGAAGCTGATCAATACATCACAAGCTAGCCACACGTATTATTTTCATCTCCGAAGGATCTATATGGTAGTTTTAATACAGGAAATGTATAGGCAAAATCCTTCCCCCTTAATTTAATGTTATCTATTTTTCCATTCATTCACTCATTCCTTCCTTCATTCAATTGTTCATTCATTCAGCAAGGCTTTACTGAGTACCTCCTATATGCATGTAAGGCACTCTGCTGTTCAGCAGAGAAGTGAGAGCTTCCTTCTCTCCGCTCTCCTCTACTCTGAAAATGCATTATGACCTCACGAGCCTTAGTTGATGATGTCATAAAAGTCTTCAAGGTTAGAATTTAACCGTGGAAAAGCCTACATTTCTGTTTGTCACACTCTGTTCTTCTGTCTGTGGCATGGTTGCTATAGGCTTATTTTCTAGATCTCTGTGTAACGATCTGTCCACACACCCATGTGTCTCTCTCTCTCTTCTTGTCTCTTTCCTTTCCTCATTTTCCTTTTCTTCCCTACCTCTATTGTTCTTCCATAACAGAATATATATATATAATGTATACACACATCACATAACTATATGTATATAAATACATATAACTGCAGTTTGTTATATATAACTGTATACACAAAAACATTTCTATACGTATGACCAGTGTGTTTTAAACTTTGTTGTAATTATTGAGTAGTTTTATGGTCCTTGTCTTTCATTTTTTTAAAACTTAAAGGGATACTTAGATATCTCCATGCTAAATAAGTTATATGTATGTAGATCAATAATAACCTTTGATAGAAATAAAGACTCCCTGCCCCCCTCCAGAAGGTCAAAGAAAATCATTCCTTCTTTTGTCCCTTTATTCCTAATTAGAGATTTCGTTTTTCTAAAATATCATAAACCAAAGCAAAATCTTATTTGTCTACTGCCTCTTTGTAGAAATGAGCTCAGTGTCATGCTAATAAGAAAAGCACCAAAAGGCATGTCAGAAAGATAACTATAGGTAATCAGAAAAGAGGCTCCAGCATTTTGGTACCAACCCAAGCCAACATGTAACAACCCTCCAGGCAGTCCCCCGTGATGGCTGGGTCCCCATTAAGGACTTGGATCCTCCTTGTAGAATTTTGTTTCTGAGTTCCAAATTTATGTTGAAGATACTGAGGGCAGGATGTTGCAGAGGTGAAAGCTAAGCTCCTTCTAGCTGGTTCTGTGAATAGGGATGAGACTGAAAGTGTTTTAATCCAGAACACTGTGTGCTGTTTATCACTCAGCTCAAAGCCCAGCCACCCAGCCTCTACTTTGTGCTACTCACGCAGGAATCTGCAATGTCGTATTTCTCCTTTCACCAGGCTAGGTTATTAGGCTCCGTCATTAGAATCAGCTAAAGGAAGACTGAAAGGCTGGCAGAGGGAGGAGGGACCTGCTGCTTCCTGCTGGCCCACTGTCCCTGTTAGAGTCACCCCAGCAACGGCCCTTCTTTCCACACAGTGGCAGTTGCTTCCAGTAGCAACAGTTGGTTCCAGTTTCCAGGTTTGTTGATTTTTCACGGTCCCAGAAACAGGCTCACCTCACCCCCTGGGAAATATCACTATCAGTCATCCAGTGCTCCATTTTCAAAGGTCCAGGTCCCAGCTCTGCCATCTCTACAAGGATCCTCTTCCCGAGGTATGAGCATTAACTGGGCAGTGCCCACTCTTCAGAGATCTGGAGCCCTGCCTCATGGAGATGGTCTGAACTCTGTGGGGACCAGCACAGCCTGGAAGTGGACCCTCCCAAGAGGTCTGGGTCCCAGCTTCATAGGGCACTGTCTCCTACCTTCTACATTTAGATAAGCCCCTCTCTTTCCCTTTGTCCCTCCAACTCTTAGGATGCAAGCTGCAGTTATGACATCTGTATTATCTCAATGTTTCTTTTTTGACCTTTCTATCATTTGGAAGCTGTGTAATGAATCAGTGAAGTGATTACGTTAAAGACATTTATAAAGTGGAATGGGTCACTTTGAAGCCCATTTCTTATCAGATTGGCTTAATGACCTGCAGTGGAGAATAAGAGAGCTAATTCTGAAGCTATTTTGGATTTGCCCAGCAAGCATATATCAAAGGAATCTGCTTCTATCCCACAGAATGGTAATTCATTCTCTGTGGTCATTGGGACACACCCTTGAGACATCTACAGCTAACAATCAAAGTCCACTGGCTTTAGTTACGTTTTTAAAAATTTACTTACACCATTTAAAAATACTCCTCCTGCACTGCAAGTAATGCACAGAGTCTCACCATCGTGAGGTTTCACCAGCACATAACAAATTTCCCCACGAATTTGTCTCCACGGTGGGGCTCGACATCCATTTGAAAATTCATAATCTGAAACCAATCATCAAGCAATTAACAGGAGTTCCTTAACCTAGAGTTTGGTAAAAAGTGTTGGCTTCCACAAAATAAATATTGTGGAAATTTTAAGCTTTCCCCTTCTTAAACCTTCTCTTGTAATGTAGACATTGAAAGCATTTTGCAAATGTAATTATGAAAATGTAAATAACATAAAATGAGCCTGAGAAAACATCAAACCTGAGGTATATTCAATAGATTCCAAGACTGTTTGGTTTCCTTTTCCTGAGAAACGTTTGAGCAGTTCTATATCCTTCTTCACCGTCATGGGACTTAAACTTATTTCTCTGAAATAAATGTTTAAAATGTCAGCTTAAATACTTTAAACAGAATCTAGGAAACACATGAACACATTTCATTGTATCAGGAGAAATATCTTTTTTGTAATTAAAATTGCAGTTAATTTTAGCCGTGCTATAATTTTATAACAGCACTGTCAACACATCAAGTAATTAGTGATTTATGTTTAATGCAACATTAAACGTACTCCATTAAATATTCACTTTATTTCATGCTGATAATATTCTAACACTAAAAATATTAGAAAATGAACATGCTTTGGACTATACAAACTCTACATGATATCTGCATTATAATTTAATAATTTGTGTAATAGTCTTGAGAGCATTTGAAAATAACAAGACCACCTAATGTCTTCAGAATTGCATGAAACCCCACCAGAATGTTTTCGTGATGTCACCTGCAATTTTTAATTTTTAGAACTGGAATAAATGAATCCCAGGAAAATTGTTTGTTCCAATAAAATGTAAAGTTAAATCCATAGCAATAACTTCCATACTTTACTTTTCTTGTGTCTTTTTTTCTAAAACTCTGAAAGCAACTTTGTAACTAATTTTTAAAGGTTCCTTTTTAATTTTTTAATTTTAATTGTAATATTTTATTATTTATTTAACTATCTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTTCAGTGGTGCAATCTTGGCTCAATACAATAGAGGTTCCTTTTTGAAAAAGACTCACAATGAAATATGTTTTAGAGAATGATTGAGGAGGTGCAGATCCAATTGCTTAAGCAGCATAGCAATCTTCATCTTAATTTCACTTTCAGGATCATCATCTCTGGTAATTTTGCCAAGAATATTTAATGCAATTGAGTTTTCTTTCATTGTATTATAATCAGAGCCCAGGATTTTTACTATGGGGTCTCTGTTAGCTGCCAAAAAAAAAAAAAAGGAGACAAATAAAAATTATCCACTTGTCTTCTAGTACAACAAACATTAAGACTAATAAATCCTTCAAAGTCCATTCAGACGTGTTTCTTTCATTAAGCTTTTTCTAAACGACCCAATTAGAATTCATCTCTACGTCTGAGATTCCATTGCTTTTAGGAACTTTCTTCTACTTCACGAGATGCTCTAGTTTGTATTGTAACATCATCTATATATCTCCCTAATAGCACAAAGACCAAGACAGTCATTCATTCTTTCTTTTTTAATTGGCCGTGGGGCATTGTTCAGAATGCACATTCAATTAATACATTCAGAATTTATTTGAAGATGGAGAAATAGTGATCTTCTTAGAAGAATCATCACTAGAACTATATGTGCATGTGTGTATGTGTGTGTAGCAGTGCTGGGTATTTATAAAGGCTTTCTTTCCAAAATAGCATGCTTTCCTAAGCCTACAGACCCAGTAGCACTCTTTTGCAAGTATTCAAACAGCTTAATATTTGCAATGCCATATGATCTTAGAGTTGGAAAGCACATCTAGCCATATACATAATATATACATAATTTAATTATATATATATTAAAATTATAGTGAAAAACAAATACCAATTCATTATCAAGGCTGATACAGATGTGAAAGTTGAACCTAGAGATGTTGAAAACAGAATTTGGTTAATGTCAAAAACCAATATGGTTGAAAATGAAGGAGAAAGTGGAAAACCCTTGTTTAGAATGGAGAAATTTGAGAAAGATGAAAATATGTATGCATTGAGATGGGGGTGGAGAGGAAGGCCTATGAGACTAATTCAGAAAGCTTAACTTAAAGGAAATGAAGAAAAGTATAGTGAAGGCATTAACATTCCCATGTGGTCATGGGATATGCCAAGGCCTTAAGGCTGAGAAAAGGACTTCACTGGGGGAGAGGAGAGCAGCGAAAAGGAGACAAAGGAATCAACCATTTATTGAGCATCTCAACTTAACAACCTTATGACTGTCATCACACAGAGATTTACAAAAAGAGCAGGCAGATTCTGAGGAATGGCATAAACCTGACTACCAAATTGCCATGTACCATGCAACTTGGACCTGAAACTAAGGGTTATACCAAAATTCTTGCAGAAATGGCAAAATGTAGCAAAGGATAAGTATTTAGCAAATGGATAA", "alternateAlleleVcf": "T"}, "hgncIds": ["HGNC:25583"]}
{"accession": {"accession": "VCV000068445", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000059315", "version": 3}, "title": "NC_000023.11:g.153696346_153701690del AND Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2013-09-05T00:00:00Z", "submissionCount": 1}}}}], "name": "NC_000023.11:g.153696346_153701690del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2013-09-05T00:00:00Z", "dateCreated": "2019-01-13T00:00:00Z", "mostRecentSubmission": "2019-01-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "start": 152961800, "stop": 152967144, "displayStart": 152961800, "displayStop": 152967144, "variantLength": 5345, "positionVcf": 152961799, "referenceAlleleVcf": "TCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACGTCCAGTCCCGAGACGGCTGAGTGACCCCAAGAAAGGCTTCCCCGACACCCAGACAGAGGCTGCAGGGCTGGGGCTGGGTGAGGGTGGCGGGCCTGCGGGGACATTCTACTGTGCTAAAAAGCCACTGCAGACATAGCAATAAAAACATGTCATTTTCCAAAGCAGGCTCCTGCTTCCGCCTCTGCTGCTCTAAGGAAGGGGTCGGGGTACAGGAGGCAGGGGGAACCTCCTCCAGCTGGAGCTGCTGCCGTGAGCAAGGCTCTGCTCTGGAGGCCTCTGCGGCCGGCACCCTTCTGGGGACTGGGAAGGGGGCAGGGAAGGCAGCAGCCCAGGGGAAGGCCTTGTCCCCCTGGAGCCGAGGCAGTTGGGGAGAGCAGGACGAGAGTGAGCTGGAGAGCAGCCACACCCGCGGGGAAGGGTGGGCGTAAAGCCATGGGTGCTGAAATTTTCAAAATGTTACCCCAAGAATTTGTCACTGAACAGGTGCCTTGTGTCACTTGGGCCAGGCTGGTAGCAGCAGAGGGGATAACTCTGCATCAGGGATCAATTTTGAAGGTGGAGCCAATAGGGGTTGTGCATGACCAGGATGCAGGGCTCAAAGAGGAGTTAAGGACAACAGATTTGGCCTGAGCAAGAGGAAAGATGGAGCTGCCAGGTCCTGCAATGGGGAGGCAAGGAGAGAATGGTCTGGAGTCAGCCTTGGGTGTGTCATGCAGGAAGTGTCATCCAAGTGGAGATGTCTAGTTGGCAGGTGGACACAGGAGTTCCAGAAAGTACTGGAGATGGAACTGTGCAAGTTCTTACCACATAGAGATGACACTGAAAGCCCTGAGCCTGAGTGAGCTCACAGGGACGCCGCAAGCCCCGGAACACAATGAGAGGGGCAGAGCGAAGACGTGGCAGTGATAGGGGAGGACGCCTGAGAGTTCCTGGTGGGGTCCTGCAACCTGAGCCAGTGAGGACCCCTCACAGGTCAGGGAGGAGCAGTGGCTGGCTCCATCTGTCCAGTGCTGCTGCTGGTGAAGGACAGTGACCTGCAAATGCTCACTGAGTCTGGCAAGGGTCACGGGGGCCTGGCGAGGGTGGCTTGCATGAGCGGGTGCGTGTGAAAGGCTGGGTGGTGTGCGACTGAGAAAAGGAGTGGCGGCAGCGCAGTGTCATCTGCAGACGAAGGGAGAGACAACAACGTAGTTCACCCAGACAAGGAAATATGAGCCAGCCTGGAAAGGGAAGGCATTCCAACACACGACACAACATGGCTGACCCTGGAGGGCATTTCTGTGAAATGAGCCATCATAAAGGGATACTTGCTATAGGGTTCTGCTCCTGTGAGAGAGACAGGGCCTTACATGAGAGGAGGGAGATCCACAGAGACAGAGGGCAAGGGTGGGTGCCAGGGGCTGGGGACAGGGTGGGGAGTGTTGAGTGGGGACAGAGTGTCAGTTTGAGAAAATAAATTCTAGAGGTGGATGGAAGTGGTGGCTGCGCAACACTGTGACTGCACTTAATGCCACTGAATTGCACATTTAACGATGGTGAAAATGGCTCATTACATATACACTGATGACACTATATATATGTATGATATATATGCGTTTTACCATGAGAAGAGGTGGAGAGGAATTGGAGACACTGAGTACAGACAGGTCCTTCAACGGGCGGGACCCCGTGCACAAGATGAGCATGTGGCACCCCACCCTCAAAGGGCTGGGCACCATGGCAGGGCACAGCAGGCAATGCAGTGGGCGGCTCAGGCAAGCACAGAGAGCATCAGAGATTGGAGCCTGTGAAGGGGGAGCAGGTGACCCCTCAGAGCAAAGTGACAGCTTGGGCTGCTCCCTTTGCGTCCTGCCCAGGACTGCTATCGTGCTATGGGAGAACCCCCAGAGGCCCTGCTCCTCAGCAGGCAGCACCCCCTATGGAGGGGCTTTACCCCTAAACTTCTGGAGCCAGGGGAGGGACCTGGCTTGGAATACGGCCAACCAAGAGCCTGGGTGAGAAATACACGGACCAGACAGGGAGCAGAGAAAGGAGTGGCAGTGCAGTCCCACCCTAGCTCAGCCAGGGGCTCTGGAGCCTGTCCTGCAGTCCCTGGCCCCCATCTCTTCAGCAACCGCTGTTTCCAGTTTTCTTTTTCTCCCTGAGAAGCCTGTCCTCTCACCATGCCTGCGCCTTCAAGAACCCCGCCTGCTGGCAGCTCCCACATCTCCGGCCTGGCCCTCCTTAGCTGCAAAGGTGCTTCCCAACATCAGCAAGACCTCTCCCCAGGGTGCCCCAGGCCCTCACACAGCCCCTGTCCCCAACCGACTCCAACTGTCCTGCAGCCCACAGTCACCCTCAGGACCCCTGAGCTCAGGCCAACTGCTTTATACACTGTCAGCCAAGTCTCTGCCTGGATGACAATCACCCTCTGCTAATTGTTCTCCGCACCTCCAGGCCAAATGCCCTCCAAGCCACCTCATGCACCACGATGACACTAAACACACAGAAAAAAGACATTGAAAAAAGGAAACTTCACAGAGGCCTGTCACTTAAAGAGGGTCCTGAAATAGAGACACCATTTCCTCAGGACTTAGCTCCTGCATCAGGGGTTAGGACACAGAGATCAACAAGCAGCAGGCTTTGCCCTCAAGCAGCTCGCAGTCTAGTGGAAGATGGGTAAGAAAACAGATCAGGACGCCCACGGGTGCAGATGCCCTGGAACAGAAGCTGATCCAGGAAGGCGCGAGCCTGCAGGCCGCCCTCCAGTCTAGGCTGGGCAAGCACCTCAATTTTCATCTCTAAGAGCCTGTGCCCACACCCCCTGCCCCGTTGTTGTTCCATCACTCCACTAGAAAGGGCGCTCCAGAAGCTGGCCTCGTGCAGCTTTCTGTCTGCTGCTGGCCTAGGCAGAACAGCGGAAGAAGCCATCAGGGCTGGTGAGGGAAGCACCCGTTTGGACTTTAGCCTTTCAAAGCTCAGAGAAGGGTGAGCTCAGGGAGGTCCAAGGTAGCTGAGAGCACTTCCTGGAAAAGTGGGATCAGCCTTCGGCCTTGGCACAGCAACCAGAGGGTATCGCCCACGTGTCCCCTACTCCCTCAGACACCACCTCTCAGACCGCCTGGAAAGGGACAGAACTCGTCATGAGGCGGCTGTGCTCTGAGCACAAGGGAAGGGCGACAGGATGCTAGAGAAGGGAACCACTGGCCTGGGCCCGGACAGGGCAGGCAGAAGCGAGCATGCACAGCAGGCCGTCAGCTACCCTGCCAGCATCAACATCCTTCAGGGGTCCCCCCAGTTCCAGGAGACACACCTCTAACCTGCTCCCCTGACCCTTCCGCCCAGTCCTCATGCAGACACCAGGCATGGCAGAGGCCCTGCAGGGTGGAAGCACTGTGCTGCGGGCGGGGGCTGCCTTCCTCATGTGCTACTGGAGAGTAGCACAGTGCAGGGGCCTGGGCACTGGTGCCAGGCAGGAAGCCCCGGTACTGGCCTGGCTTGCTGTGGGCCTGGAAGACACAGCTCTGAGGGAGCCACGGGAGGGACACCCTGGAGCCAGCACAGCGCTCTGGTGGCAGGCACACACCCAGCACGTTCTCAGGGCCAAGGGCCCCAGCCCATTCCCAGCCCCTTTCTGCCTAGCTCTGCCCTGGGCCAGCTCCAGGTCACTGCCAAGGACAAGTCTCCTCTCCCAGCTGGCATTAGTCAGAGGTCATCCTGCAAACCTTCGGGGGGGGGGGCAGGGAGTGACTAGTGGCGTTCTGCCACGTTCTGTCTGTCCCAAATGTGACGAACAGGAACCCAGAGAAGGCAAGCGAGTCCTCTACCCGGAAGCCCCGCCGGTTTACTGAGCCTCCCAAGCTGCCCACACCCAGGGAGGCAGACAGGACACACACTCGGCGGGTGGCCCTGAAGCGAGGCCTGGCCCAGCCCGGGGAGCAGGAGGACAGAGAGGGCAAGGCCTTCGAGAACAGGTGTGAGCCTGGCCTTCAGTGGGGGAAACAGGTTGAAGGGCTGTGGCCGCTTGGGGGCTCCAGGCAGGAGAGAAAGCAGAGCCCTCCCCACAGCTGCAGTCACACACCGCACCACGTACACACCATGACAACTTTTATTGCCCTCAAGAGAAACTCCAGTCCACCTGCTCCACCCACCCTCCTGCGGGACCAAAGAAAACACCCAGAGGGCAAAACAAAAAGGGGCTCAAACCAACAGGAAGTCAGCCCCACCGCAAGCCGGACTACAACTAACTCGTGCTCTCCACGCTCAGGCGTGGAAGCCAAGGCTGTGCCAGGCCTGGCCAGGCCAAGCAGGATGACAGCAAACGCATTCTGAACGTGTAGCAATCAGGTCCCCTGTAATGTGCTTGGAGAGTGTGGACAAGGGCCGAGATGACGAGCTATGAGCTGTGGAAGGGAATGGGGGAAGCAGAAGGGCACAAACAGAAGTACTGGAGGGAGAGGCCGGGCTCTCAGGAAGCAGCAGGCACGTGCCAGGTGGAAGCCAGCTGCAGGCAGGGGAGGAAGGAGGCCCTTACTCTTCCTTCTTGTCCATGGGACCATCTACTGCAGCCTGGAAAGGGACAGAAATCCCACAGCAGTAGGTTGGCCGGGTCCACTCCTCCCCTGCCACCTCCAGCCCCATGCCCCAGAGGTCCACCTCGGTTCCCCTCTCTCCTAACAACAGCTATTCAAGTGAACAAGGGGCCCCCTCCCCAGCTGCACCCAAAGGCCTGCCAGGGTGGGAGCGTCAGCCCTGGCCCACGCTCTAGGGAAAGCCCTGGACCTAACGCCAGCCAGGGAGGACTGCCAGGACCTCACTGGGGGCTGAGTCCTGGCTGCAGGGAACAGCAAGGCATCCAGTCCCCTTCAAGACCTGATCAGACCCTTCCCAACTCTGCACACCTTTGACAGGTGCCCTCGAAGCCCATCTGCCAAGCCTGCCCCATACAGAGGGCATGGGTGCCCCCTTTGAGGCTGGACCCTTCCTCCCCACCTGCTGTGGTGCCCAAACTTGGGCCACCAAGCACTGAGGCCAGCTGTCCAAAGTTAGGAGTATTTATGTGGCCCTCACTCCCAACGTCAAGACCGCCTGGGCTTCCAGATGCGGCCTGGTGCACCCAAGCTAGTCTGAGGACTCAGATCAGGCCTAGGGCAGCAGGTGATGGCCACAACTAGCGCCTGCTAGGGAAGGTGCCTTTTTGACACCTTGTGCCCTCACTTGCCCAGGGATCTTTGCCCTACGTCACTCCCCAGCACCCTAGGAAAGAAGGCCAGCAGTGGGTCC", "alternateAlleleVcf": "T"}, "hgncIds": ["HGNC:16695", "HGNC:11055"]}
{"accession": {"accession": "VCV000088979", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000074477", "version": 4}, "title": "NC_000012.10:g.54711095_54731551del AND Diamond-Blackfan anemia 10", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2013-11-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NC_000012.10:g.54711095_54731551del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2013-11-01T00:00:00Z", "dateCreated": "2015-04-11T00:00:00Z", "mostRecentSubmission": "2015-04-11T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_12", "accession": "NC_000012.11", "start": 56424828, "stop": 56445284, "displayStart": 56424828, "displayStop": 56445284, "variantLength": 20457}, "hgncIds": ["HGNC:13179", "HGNC:10414"]}
{"accession": {"accession": "VCV000100637", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000087037", "version": 5}, "title": "NC_000020.11:g.(50936263_50940865)_(50948664_50955185)del AND Congenital disorder of glycosylation type 1E", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2013-11-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NC_000020.11:g.(50936263_50940865)_(50948664_50955185)del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2013-11-01T00:00:00Z", "dateCreated": "2017-02-19T00:00:00Z", "mostRecentSubmission": "2017-02-19T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_20", "accession": "NC_000020.10", "outerStart": 49552800, "innerStart": 49557402, "innerStop": 49565201, "outerStop": 49571722, "displayStart": 49552800, "displayStop": 49571722, "variantLength": 7800}, "hgncIds": ["HGNC:51227", "HGNC:3005"]}
{"accession": {"accession": "VCV000100659", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000087059", "version": 3}, "title": "NM_138395.4(MARS2):c.682_949del (p.Gly228fs) AND Spastic ataxia 3", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2012-01-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_138395.4(MARS2):c.682_949del (p.Gly228fs)", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2012-01-01T00:00:00Z", "dateCreated": "2014-02-26T00:00:00Z", "mostRecentSubmission": "2014-02-26T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "start": 198570810, "stop": 198571077, "displayStart": 198570810, "displayStop": 198571077, "strand": "+", "variantLength": 268, "positionVcf": 198570809, "referenceAlleleVcf": "GGGGCAACCCTCAGGCGATCACCCCCGAACCATTTCATCACGTAGTTCTTCAGTGGCTGGACGAGGAGCTGCCCGACCTGTCCGTGTCTCGCAGAAGTAGCCACTTGCACTGGGGCATTCCGGTGCCCGGGGATGATTCGCAGACCATCTATGTATGGCTGGATGCCCTGGTCAACTACCTCACTGTAATTGGCTACCCAAATGCTGAGTTCAAATCTTGGTGGCCGGCCACCTCTCATATCATAGGTAAGGACATTCTCAAATTCCAT", "alternateAlleleVcf": "G"}, "hgncIds": ["HGNC:25133"]}
{"accession": {"accession": "VCV000101069", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000087326", "version": 3}, "title": "NC_000017.10:g.(4907452_4914761)_(4918508_4926045)del AND Spastic ataxia 2", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2014-01-31T00:00:00Z", "submissionCount": 1}}}}], "name": "NC_000017.10:g.(4907452_4914761)_(4918508_4926045)del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2014-01-31T00:00:00Z", "dateCreated": "2014-03-13T00:00:00Z", "mostRecentSubmission": "2014-03-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"forDisplay": true, "assembly": "GRCh37", "chr": "CHROMOSOME_17", "accession": "NC_000017.10", "outerStart": 4907452, "innerStart": 4914761, "innerStop": 4918508, "outerStop": 4926045, "displayStart": 4907452, "displayStop": 4926045, "variantLength": 18594}, "hgncIds": ["HGNC:6317"]}
{"accession": {"accession": "VCV000100628", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000087028", "version": 3}, "title": "NC_000023.10:g.(68059108_68059111)_(68067499_68067502)del AND Craniofrontonasal syndrome", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2013-04-15T00:00:00Z", "submissionCount": 1}}}}], "name": "NC_000023.10:g.(68059108_68059111)_(68067499_68067502)del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2013-04-15T00:00:00Z", "dateCreated": "2014-02-26T00:00:00Z", "mostRecentSubmission": "2014-02-26T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "outerStart": 68059108, "innerStart": 68059111, "innerStop": 68067499, "outerStop": 68067502, "displayStart": 68059108, "displayStop": 68067502, "strand": "+", "variantLength": 8389}, "hgncIds": ["HGNC:3226"]}
{"accession": {"accession": "VCV000101502", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000087739", "version": 3}, "title": "NM_014740.4(EIF4A3):c.-98_-81del18insTCGGCAGCGGCACAGCGAGG[10] AND Richieri Costa-Pereira syndrome", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2014-01-02T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_014740.4(EIF4A3):c.-98_-81del18insTCGGCAGCGGCACAGCGAGG[10]", "variationType": "VARIATION_TYPE_INDEL", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2014-01-02T00:00:00Z", "dateCreated": "2014-03-13T00:00:00Z", "mostRecentSubmission": "2014-03-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_17", "accession": "NC_000017.10", "start": 78120841, "stop": 78120858, "displayStart": 78120841, "displayStop": 78120858}, "hgncIds": ["HGNC:18683"]}
{"accession": {"accession": "VCV000102513", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000088744", "version": 1}, "title": "NM_000277.2(PAH):c.1066_1067ins6 AND not provided", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_CLASSIFICATION_PROVIDED", "description": {"value": "not provided", "submissionCount": 1}}}}], "name": "NM_000277.2(PAH):c.1066_1067ins6", "variationType": "VARIATION_TYPE_INSERTION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_CLASSIFICATION_PROVIDED", "description": "not provided", "dateCreated": "2014-03-19T00:00:00Z", "mostRecentSubmission": "2014-03-19T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_12", "accession": "NC_000012.11", "start": 103237556, "stop": 103237557, "displayStart": 103237556, "displayStop": 103237557}, "hgncIds": ["HGNC:8582"]}
{"accession": {"accession": "VCV000143794", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000133341", "version": 2}, "title": "NM_003159.2(CDKL5):c.2045_2046delAGins18 (p.?) AND Atypical Rett syndrome", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2014-03-13T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_003159.2(CDKL5):c.2045_2046delAGins18 (p.?)", "variationType": "VARIATION_TYPE_INDEL", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2014-03-13T00:00:00Z", "dateCreated": "2015-04-22T00:00:00Z", "mostRecentSubmission": "2015-04-22T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "start": 18627031, "stop": 18627032, "displayStart": 18627031, "displayStop": 18627032}, "hgncIds": ["HGNC:11411"]}
{"accession": {"accession": "VCV000144097", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000133599", "version": 3}, "title": "GRCh38/hg38 Xq21.1(chrX:77829855-77858051)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.1(chrX:77829855-77858051)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 77085352, "innerStop": 77113548, "displayStart": 77085352, "displayStop": 77113548, "variantLength": 28197}, "hgncIds": ["HGNC:28880"]}
{"accession": {"accession": "VCV000144128", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052335", "version": 4}, "title": "GRCh38/hg38 Xp22.31(chrX:8627004-8736337)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.31(chrX:8627004-8736337)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 8595045, "innerStop": 8704378, "displayStart": 8595045, "displayStop": 8704378, "variantLength": 109334}, "hgncIds": ["HGNC:6211"]}
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{"accession": {"accession": "VCV000145946", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135272", "version": 3}, "title": "GRCh38/hg38 5p15.2(chr5:12819940-13227589)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5p15.2(chr5:12819940-13227589)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 12820052, "innerStop": 13227701, "displayStart": 12820052, "displayStop": 13227701, "variantLength": 407650}, "hgncIds": ["HGNC:53087"]}
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{"accession": {"accession": "VCV000145954", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135280", "version": 3}, "title": "GRCh38/hg38 8q11.21(chr8:50082603-50792866)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8q11.21(chr8:50082603-50792866)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 50995163, "innerStop": 51705426, "displayStart": 50995163, "displayStop": 51705426, "variantLength": 710264}, "hgncIds": ["HGNC:13740"]}
{"accession": {"accession": "VCV000145897", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135223", "version": 3}, "title": "GRCh38/hg38 9p24.1(chr9:6312800-6355675)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9p24.1(chr9:6312800-6355675)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 6312800, "innerStop": 6355675, "displayStart": 6312800, "displayStop": 6355675, "variantLength": 42876}, "hgncIds": ["HGNC:23382"]}
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