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Items: 1 to 20 of 161

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5934593copy number variation1nstd209human GRCh38 chr17: 80,147,009-80,147,066 , GRCh37.p13 chr17: 78,120,808-78,120,865 EIF4A3
    nsv5657284insertion1nstd207human GRCh38 chr17: 80,147,047-80,147,047 , GRCh37.p13 chr17: 78,120,846-78,120,846 EIF4A3
    nsv5586351copy number variation1nstd207human GRCh38 chr17: 80,146,992-80,147,047 , GRCh37.p13 chr17: 78,120,791-78,120,846 EIF4A3
    nsv5375033translocation1nstd200human GRCh38 chr17: 80,124,321-80,124,321 , GRCh38 chr17: 80,140,451-80,140,451 , GRCh37.p13 chr17: 78,114,250-78,114,250 , GRCh37.p13 chr17: 78,098,120-78,098,120 EIF4A3
    nsv5142696mobile element insertion1nstd203human GRCh38 chr17: 80,139,626-80,139,640 , GRCh37.p13 chr17: 78,113,425-78,113,439 EIF4A3
    nsv5014086copy number variation1nstd200human GRCh38 chr17: 80,147,023-80,244,563 , GRCh37.p13 chr17: 78,120,822-78,218,362 EIF4A3, CARD14, 2 more genes
    nsv4757739insertion1nstd199human GRCh37 chr17: 78,120,803-78,120,803 , GRCh38.p12 chr17: 80,147,004-80,147,004 EIF4A3
    nsv4679562copy number variation1nstd189human GRCh37.p13 chr17: 77,970,591-78,164,514 , GRCh38.p12 chr17: 79,996,792-80,190,715 GAA, EIF4A3, 4 more genes
    nsv4676104copy number variation1nstd102humanPathogenic GRCh37 chr17: 73,261,871-78,608,763 , GRCh38.p12 chr17: 75,265,790-80,634,963 LLGL2, TSEN54, 165 more genes
    nsv4633732copy number variation1nstd183human GRCh37 chr17: 77,977,297-78,197,805 , GRCh38.p12 chr17: 80,003,498-80,224,006 GAA, SGSH, 6 more genes
    nsv4506768mobile element insertion1nstd166human GRCh37.p13 chr17: 78,111,742-78,111,742 , GRCh38.p12 chr17: 80,137,943-80,137,943 EIF4A3
    nsv4457646copy number variation1nstd102humanPathogenic GRCh37 chr17: 62,778,720-81,041,938 , GRCh38.p12 chr17: 64,782,602-83,084,062 LOC107985089, ARSG, 448 more genes
    nsv4438682insertion1nstd175human GRCh37 chr17: 78,120,791-78,120,791 , GRCh38.p12 chr17: 80,146,992-80,146,992 EIF4A3
    nsv4257071copy number variation1nstd166human GRCh37.p13 chr17: 77,971,820-78,241,995 , GRCh38.p12 chr17: 79,998,021-80,268,196 GAA, SGSH, 7 more genes
    nsv3930381insertion1nstd167human GRCh37 chr17: 78,120,846-78,120,846 , GRCh38.p12 chr17: 80,147,047-80,147,047 EIF4A3
    nsv3923832delins1nstd102humanPathogenic GRCh37 chr17: 78,120,841-78,120,858 , GRCh38 chr17: 80,147,042-80,147,059 EIF4A3
    nsv3919635copy number variation1nstd102humanPathogenic GRCh37 chr17: 76,088,317-81,044,553 , NCBI36 chr17: 73,599,912-78,637,842 , GRCh38 chr17: 78,092,236-83,086,677 LINC03048, MIR3186, 154 more genes
    nsv3919156copy number variation1nstd102humanPathogenic GRCh38 chr17: 69,916,435-83,102,552 , GRCh37 chr17: 67,912,576-81,048,189 , NCBI36 chr17: 65,424,171-78,653,717 CD300A, RNF213, 359 more genes
    nsv3917654copy number variation1nstd102humanPathogenic NCBI36 chr17: 64,716,815-78,637,842 , GRCh37 chr17: 67,205,220-81,044,553 , GRCh38 chr17: 69,209,079-83,086,677 LOC101928447, GRB2, 368 more genes
    nsv3914783copy number variation1nstd102humanPathogenic NCBI36 chr17: 16,698,288-78,654,742 , GRCh37.p13 chr17: 16,757,563-81,048,189 , GRCh38.p12 chr17: 16,854,249-83,103,577 LOC105371922, GJD3, 1855 more genes
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