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Items: 1 to 20 of 456

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137063copy number variation1nstd102humanPathogenic GRCh37 chrX: 200,855-155,240,074 , GRCh38.p12 chrX: 284,188-156,010,409 RN7SL581P, HMGB1P32, 2151 more genes
    nsv7098106copy number variation1nstd102humanPathogenic GRCh37 chrX: 103,042,707-103,045,526 , GRCh38.p12 chrX: 103,787,778-103,790,598 RAB9B, PLP1
    nsv7098105copy number variation1nstd102humanPathogenic GRCh37 chrX: 103,040,922-103,042,832 , GRCh38.p12 chrX: 103,785,993-103,787,903 PLP1, RAB9B
    nsv7097975copy number variation1nstd102humanUncertain significance GRCh37 chrX: 103,031,924-103,040,717 , GRCh38.p12 chrX: 103,776,996-103,785,788 RAB9B, PLP1
    nsv7093157complex substitution1nstd102humanUncertain significance GRCh37.p13 chrX: 103,118,514-103,313,590 , GRCh38 chrX: 103,734,669-104,059,025 , GRCh37.p13 chrX|NW_004070885.1: 1-195,441 PLP1, RAB9B, 13 more genes
    nsv7090658copy number variation1nstd229human GRCh38 chrX: 103,832,268-103,832,303 , GRCh37.p13 chrX: 103,087,198-103,087,233 RAB9B
    nsv7090657copy number variation1nstd229human GRCh38 chrX: 103,831,420-103,831,715 , GRCh37.p13 chrX: 103,086,350-103,086,645 RAB9B
    nsv7090656copy number variation1nstd229human GRCh38 chrX: 103,824,411-103,842,817 , GRCh37.p13 chrX: 103,079,341-103,097,747 RAB9B
    nsv7090655copy number variation1nstd229human GRCh38 chrX: 103,811,558-103,831,698 , GRCh37.p13 chrX: 103,066,488-103,086,628 RAB9B
    nsv7090654copy number variation1nstd229human GRCh38 chrX: 103,810,001-103,812,277 , GRCh37.p13 chrX: 103,064,931-103,067,207 RAB9B
    nsv7090653copy number variation1nstd229human GRCh38 chrX: 103,801,307-103,804,610 , GRCh37.p13 chrX: 103,056,236-103,059,540 RAB9B
    nsv7090652copy number variation1nstd229human GRCh38 chrX: 103,797,466-103,804,506 , GRCh37.p13 chrX: 103,052,395-103,059,436 RAB9B
    nsv7090651copy number variation1nstd229human GRCh38 chrX: 103,788,901-103,802,000 , GRCh37.p13 chrX: 103,043,830-103,056,929 RAB9B, PLP1
    nsv7090650copy number variation1nstd229human GRCh38 chrX: 103,778,715-103,993,486 , GRCh37.p13 chrX: 103,118,514-103,248,054 , GRCh37.p13 chrX|NW_004070885.1: 1-129,902 TMSB15B, H2BW4P, 9 more genes
    nsv7090591copy number variation1nstd229human GRCh38 chrX: 103,123,688-103,793,886 , GRCh37.p13 chrX: 102,378,616-103,048,815 TMEM31, LL0XNC01-250H12.3, 20 more genes
    nsv7052621inversion1nstd229human GRCh38 chrX: 103,826,879-110,334,422 , GRCh37.p13 chrX: 103,081,809-109,577,650 CSGALNACT2P2, LOC107985662, 82 more genes
    nsv6636543copy number variation1nstd102humanPathogenic GRCh37 chrX: 93,805,850-118,913,329 , GRCh38.p12 chrX: 94,550,851-119,779,366 TRPC5OS, LOC105373314, 351 more genes
    nsv6636471copy number variation1nstd102humanPathogenic GRCh37 chrX: 103,017,429-103,236,332 , GRCh38.p12 chrX: 103,762,501-103,981,754 DPPA3P1, TMSB15B-AS1, 9 more genes
    nsv6634623copy number variation1nstd102humanPathogenic GRCh38 chrX: 103,776,506-104,817,980 , GRCh37.p13 chrX: 103,031,434-104,062,660 SLC25A53P1, ELF2P1, 22 more genes
    nsv6634595copy number variation1nstd102humanPathogenic GRCh38 chrX: 103,477,300-104,817,980 , GRCh37.p13 chrX: 102,732,228-104,062,660 TMSB15B, MORF4L2-AS1, 33 more genes
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