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Items: 1 to 20 of 444

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112791copy number variation1nstd102humanPathogenic GRCh37 chr17: 34,815,466-36,249,366 , GRCh38.p12 chr17|NT_187614.1: 694,556-2,128,431 , GRCh38.p12 chr17: 36,459,652-37,889,744 HNF1B, LOC107985031, 36 more genes
    nsv6112704copy number variation1nstd102humanUncertain significance GRCh38 chr17: 36,459,229-36,562,147 , GRCh37.p13 chr17|NW_003315949.1: 343,979-429,138 MYO19, GGNBP2, 4 more genes
    nsv5932561copy number variation1nstd209human GRCh38 chr17: 36,271,341-37,995,711 , GRCh37.p13 chr17: 34,900,240-35,888,667 LOC101060212, RNU6-1192P, 47 more genes
    nsv5564312copy number variation1nstd102humanUncertain significance GRCh37 chr17: 34,842,544-34,863,351 , GRCh38.p12 chr17: 36,486,700-36,507,512 , GRCh38.p12 chr17|NT_187614.1: 721,604-742,416 ZNHIT3, RNA5SP439, 2 more genes
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv5544293insertion1nstd206human GRCh38 chr17: 36,535,240-36,535,282 , GRCh37.p13 chr17|NW_003315949.1: 419,988-420,030 PIGW, MYO19
    nsv5523559copy number variation1nstd206human GRCh38 chr17: 36,528,628-36,541,746 , GRCh37.p13 chr17|NW_003315949.1: 413,376-426,494 MYO19, PIGW
    nsv5517916copy number variation1nstd206human GRCh37.p13 chr17|NW_003315949.1: 320,732-429,138 , GRCh38 chr17: 36,435,980-36,562,000 ZNHIT3, GGNBP2, 6 more genes
    nsv5358832translocation1nstd200human GRCh38 chr17: 36,523,715-36,523,715 , GRCh38 chr17: 36,523,645-36,523,645 , GRCh37.p13 chr17|NW_003315949.1: 408,393-408,393 , GRCh37.p13 chr17|NW_003315949.1: 408,463-408,463 MYO19
    nsv5200381copy number variation1nstd102humanPathogenic GRCh37 chr17: 34,817,422-36,243,028 , GRCh38.p12 chr17: 36,461,608-37,883,408 , GRCh38.p12 chr17|NT_187614.1: 696,512-2,122,093 MRM1, LOC105379600, 36 more genes
    nsv5200380copy number variation1nstd102humanLikely pathogenic GRCh37 chr17: 34,841,190-35,733,119 , GRCh38.p12 chr17: 36,485,346-37,376,177 , GRCh38.p12 chr17|NT_187614.1: 720,250-1,612,184 ACACA, LHX1, 23 more genes
    nsv5200379copy number variation1nstd102humanPathogenic GRCh37 chr17: 34,437,475-36,243,028 , GRCh38.p12 chr17: 36,110,082-37,883,408 , GRCh38.p12 chr17|NT_187614.1: 345,003-2,122,093 DUSP14, RPS2P49, 54 more genes
    nsv5152959mobile element insertion1nstd203human GRCh38 chr17: 36,518,579-36,518,581 , GRCh37.p13 chr17|NW_003315949.1: 403,327-403,329 MYO19
    nsv5029063copy number variation1nstd200human GRCh38 chr17: 36,502,545-36,502,713 , GRCh37.p13 chr17|NW_003315949.1: 387,295-387,463 MYO19
    nsv5016169copy number variation1nstd200human GRCh38 chr17: 36,517,826-36,517,904 , GRCh37.p13 chr17|NW_003315949.1: 402,576-402,654 MYO19
    nsv4864621copy number variation1nstd200human GRCh37 chr17: 34,467,180-34,876,837 , GRCh38.p12 chr17|NT_187614.1: 374,708-755,909 , TBC1D3I, 19 more genes
    nsv4684433copy number variation1nstd192human GRCh37 chr17: 34,815,551-36,375,180 , GRCh38.p12 chr17|NT_187614.1: 694,641-2,254,245 , ACACA, 45 more genes
    nsv4684432copy number variation1nstd192human GRCh37 chr17: 34,815,551-36,249,431 , GRCh38.p12 chr17: 36,459,737-37,889,809 , GRCh38.p12 chr17|NT_187614.1: 694,641-2,128,496 ACACA, LHX1, 36 more genes
    nsv4684431copy number variation1nstd192human GRCh37 chr17: 34,815,550-36,195,934 , GRCh38.p12 chr17: 36,459,736-37,836,317 , GRCh38.p12 chr17|NT_187614.1: 694,640-2,074,999 ACACA, LHX1, 35 more genes
    nsv4684416copy number variation2nstd192human GRCh37 chr17: 34,815,550-36,249,430 , GRCh38.p12 chr17: 36,459,736-37,889,808 , GRCh38.p12 chr17|NT_187614.1: 694,640-2,128,495 ACACA, LHX1, 36 more genes
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