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Items: 1 to 20 of 130

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 PADI1, RPS15AP6, 176 more genes
    nsv5431644copy number variation1nstd206human GRCh38 chr1: 22,123,052-22,125,030 , GRCh37.p13 chr1: 22,449,545-22,451,523 WNT4
    nsv5431562copy number variation1nstd206human GRCh38 chr1: 22,119,074-22,119,193 , GRCh37.p13 chr1: 22,445,567-22,445,686 WNT4
    nsv5427686copy number variation1nstd206human GRCh38 chr1: 22,064,395-28,290,354 , GRCh37.p13 chr1: 22,390,888-28,616,865 , NCMAP-DT, 201 more genes
    nsv5280612copy number variation1nstd204human GRCh38.p13 chr1: 22,123,042-22,125,039 , GRCh37.p13 chr1: 22,449,535-22,451,532 WNT4
    nsv5208619copy number variation1nstd204human GRCh38.p13 chr1: 22,123,176-22,125,175 , GRCh37.p13 chr1: 22,449,669-22,451,668 WNT4
    nsv4903180copy number variation1nstd200human GRCh38 chr1: 22,124,242-22,154,248 , GRCh37.p13 chr1: 22,450,735-22,480,741 LOC105376845, WNT4
    nsv4895278copy number variation1nstd200human GRCh38 chr1: 22,123,052-22,125,030 , GRCh37.p13 chr1: 22,449,545-22,451,523 WNT4
    nsv4772695copy number variation1nstd200human GRCh37 chr1: 22,449,545-22,451,523 , GRCh38.p12 chr1: 22,123,052-22,125,030 WNT4
    nsv4772242copy number variation1nstd200human GRCh37 chr1: 22,450,735-22,480,741 , GRCh38.p12 chr1: 22,124,242-22,154,248 WNT4, LOC105376845
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4728729copy number variation1nstd102humanUncertain significance GRCh37 chr1: 22,396,372-22,763,532 , GRCh38.p12 chr1: 22,069,879-22,437,039 CDC42, ZBTB40, 6 more genes
    nsv4580488copy number variation1nstd183human GRCh37 chr1: 22,469,306-22,469,430 , GRCh38.p12 chr1: 22,142,813-22,142,937 WNT4, LOC105376845
    nsv4436680complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269 ALPL, RERE, 636 more genes
    nsv4436486complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 17,229,013-24,379,779 , GRCh37 chr1: 17,555,508-24,706,269 ALPL, C1QA, 174 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv3903895copy number variation1nstd102humanUncertain significance GRCh38 chr1: 21,399,130-22,696,747 , NCBI36 chr1: 21,598,210-22,895,827 , GRCh37 chr1: 21,725,623-23,023,240 PDE4DIPP10, USP48, 35 more genes
    nsv3890174copy number variation1nstd102humanPathogenic GRCh37 chr1: 18,674,315-22,839,387 , NCBI36 chr1: 18,546,902-22,711,974 , GRCh38 chr1: 18,347,821-22,512,894 HTR6, LOC105376817, 103 more genes
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