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Items: 1 to 20 of 390

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148151copy number variation1nstd102humanPathogenic GRCh38 chr17: 36,486,532-37,745,203 , GRCh37.p13 chr17: 34,900,240-35,888,667 PIGW, LOC105371751, 32 more genes
    nsv7148119copy number variation1nstd102humanPathogenic GRCh37 chr17: 34,752,221-36,105,007 , GRCh38.p12 chr17|NT_187614.1: 694,163-1,984,072 , GRCh38.p12 chr17: 36,446,545-37,745,016 LOC105371756, SYNRG, 35 more genes
    nsv7137104copy number variation1nstd102humanPathogenic GRCh37 chr17: 34,842,545-36,293,050 , GRCh38.p12 chr17: 36,486,701-37,933,506 , GRCh38.p12 chr17|NT_187614.1: 721,605-2,172,115 LHX1-DT, LOC105371749, 40 more genes
    nsv7098907copy number variation1nstd102humanPathogenic GRCh38 chr17: 36,138,501-37,924,067 , GRCh37.p13 chr17: 34,900,240-35,888,667 LOC102723414, SYNRG, 51 more genes
    nsv7098735copy number variation1nstd102humanLikely pathogenic GRCh37 chr17: 34,842,542-36,104,877 , GRCh38.p12 chr17: 36,486,698-37,744,886 , GRCh38.p12 chr17|NT_187614.1: 721,602-1,983,942 ACACA, LHX1, 34 more genes
    nsv7073998inversion1nstd229human GRCh38 chr17: 32,918,710-41,148,753 , GRCh37.p13 chr17: 31,245,728-39,305,005 LOC105371750, C17orf78, 298 more genes
    nsv7066523inversion1nstd229human GRCh38 chr17: 36,977,322-38,870,747 , GRCh37.p13 chr17: 35,372,677-37,027,000 LOC101929950, LASP1, 68 more genes
    nsv6988318copy number variation1nstd229human GRCh38 chr17: 37,380,883-37,381,865 , GRCh37.p13 chr17: 35,737,821-35,738,803 ACACA, C17orf78
    nsv6986177copy number variation1nstd229human GRCh38 chr17: 37,390,083-37,394,565 , GRCh37.p13 chr17: 35,747,018-35,751,519 C17orf78, ACACA
    nsv6984182copy number variation1nstd229human GRCh38 chr17: 37,373,167-37,381,916 , GRCh37.p13 chr17: 35,730,110-35,738,854 ACACA, C17orf78
    nsv6980247copy number variation1nstd229human GRCh38 chr17: 36,753,135-37,596,834 , GRCh37.p13 chr17: 35,168,060-35,888,667 HMGB1P24, SNORA90, 14 more genes
    nsv6637369copy number variation1nstd102humanPathogenic GRCh37 chr17: 34,425,363-36,404,555 , GRCh38.p12 chr17|NT_187614.1: 332,891-2,283,620 CCL3L3, MRM1, 63 more genes
    nsv6634438copy number variation1nstd102humanPathogenic GRCh37 chr17: 34,842,544-36,104,875 , GRCh38.p12 chr17: 36,486,700-37,744,884 , GRCh38.p12 chr17|NT_187614.1: 721,604-1,983,940 HNF1B, LOC100419621, 34 more genes
    nsv6634420copy number variation1nstd102humanPathogenic GRCh37 chr17: 34,822,465-36,243,781 , GRCh38.p12 chr17|NT_187614.1: 701,523-2,122,846 , GRCh38.p12 chr17: 36,466,619-37,884,161 GGNBP2, AATF, 36 more genes
    nsv6624272copy number variation1nstd224human GRCh37 chr17: 34,815,551-36,249,430 , GRCh38.p12 chr17: 36,459,737-37,889,808 , GRCh38.p12 chr17|NT_187614.1: 694,641-2,128,495 DDX52, DUSP14, 36 more genes
    nsv6624234copy number variation1nstd224human GRCh37 chr17: 35,408,435-35,822,186 , GRCh38.p12 chr17: 37,051,137-37,462,082 , GRCh38.p12 chr17|NT_187614.1: 1,287,500-1,701,251 RPS2P49, RPL18AP12, 8 more genes
    nsv6623850copy number variation1nstd224human GRCh37 chr17: 34,815,551-36,411,684 , GRCh38.p12 chr17|NT_187614.1: 694,641-2,290,749 LHX1, HNF1B, 44 more genes
    nsv6590205inversion1nstd223human GRCh38 chr17: 37,381,761-37,382,598 , GRCh37.p13 chr17: 35,738,699-35,739,536 ACACA, C17orf78
    nsv6577788inversion1nstd223human GRCh38 chr17: 37,386,332-37,387,146 , GRCh37.p13 chr17: 35,743,270-35,744,081 ACACA, C17orf78
    nsv6512472copy number variation1nstd223human GRCh38 chr17: 37,380,201-37,381,900 , GRCh37.p13 chr17: 35,737,139-35,738,838 C17orf78, ACACA
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