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Items: 1 to 20 of 113

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5558142mobile element insertion1nstd206human GRCh38 chr2: 102,295,972-141,288,199 , GRCh37.p13 chr2: 102,912,432-142,045,768 , LOC105373587, 623 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4743379copy number variation1nstd199human GRCh37 chr2: 88,481,090-124,440,189 , GRCh38.p12 chr9: 40,649,751-63,450,622 , GRCh38.p12 chr9: 40,649,907-63,450,751 , GRCh38.p12 chr1: 125,085,511-144,884,066 , GRCh38.p12 chr2: 88,181,571-123,682,613 , EIF2AK3, 861 more genes
    nsv4674062copy number variation1nstd102humanPathogenic GRCh37 chr2: 115,416,190-122,399,064 , GRCh38.p12 chr2: 114,658,613-121,641,488 DPP10-AS3, HTR5BP, 71 more genes
    nsv4582186copy number variation1nstd183human GRCh37 chr2: 117,831,655-118,732,845 , GRCh38.p12 chr2: 117,074,079-117,975,269 DDX18, CCDC93, 4 more genes
    nsv4379019copy number variation1nstd173human GRCh37 chr2: 117,969,067-119,031,841 , GRCh38.p12 chr2: 117,211,491-118,274,265 DDX18, LOC107985939, 9 more genes
    nsv3923963copy number variation1nstd102humanUncertain significance NCBI36 chr2: 110,190,938-242,751,149 , GRCh37.p13 chr2: 110,833,649-243,102,476 , GRCh38.p12 chr2: 110,076,072-242,160,331 NMTRQ-TTG9-1, MIR6810, 1944 more genes
    nsv3921001copy number variation1nstd102humanPathogenic NCBI36 chr2: 115,444,912-126,178,935 , GRCh37.p13 chr2: 115,728,442-126,462,465 , GRCh38.p12 chr2: 114,970,865-125,704,888 RPL27P7, LINC01826, 94 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 DAZAP2P1, RPL36AP16, 2991 more genes
    nsv3892279copy number variation1nstd102humanPathogenic NCBI36 chr2: 115,776,113-129,545,173 , GRCh37 chr2: 116,059,643-129,828,703 , GRCh38 chr2: 115,302,067-129,071,130 MAP3K2, RPL27P7, 144 more genes
    nsv3889486copy number variation1nstd102humanPathogenic GRCh37 chr2: 114,707,932-124,328,692 , GRCh38.p12 chr2: 113,950,355-123,571,116 LOC107985817, GLI2, 91 more genes
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 RNU6-674P, KANSL3, 3735 more genes
    nsv3884839copy number variation1nstd102humanUncertain significance GRCh37 chr2: 118,086,228-118,843,437 , GRCh38.p12 chr2: 117,328,652-118,085,861 LOC107985940, LOC102723413, 6 more genes
    nsv3882615copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232 MTND2P22, LOC112268410, 3724 more genes
    nsv3880973copy number variation1nstd102humanPathogenic GRCh37 chr2: 117,070,953-126,303,416 , GRCh38.p12 chr2: 116,313,377-125,545,839 LOC105373585, RPS17P7, 86 more genes
    nsv3879351copy number variation1nstd102humanPathogenic GRCh37 chr2: 116,754,600-123,897,370 , GRCh38.p12 chr2: 115,997,024-123,139,794 LOC107985815, LINC01826, 78 more genes
    nsv3876086copy number variation1nstd102humandrug response GRCh37 chr2: 104,172,062-168,223,828 , GRCh38.p12 chr2: 103,555,604-167,367,318 SLC4A10, NEK2P4, 871 more genes
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