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Items: 1 to 20 of 116

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7138956insertion1nstd232human GRCh37.p13 chr2: 99,235,317-99,235,317 , GRCh38.p12 chr2: 98,618,854-98,618,854 MGAT4A, UNC50
    nsv7138114copy number variation1nstd232human GRCh37.p13 chr2: 99,232,809-99,232,893 , GRCh38.p12 chr2: 98,616,346-98,616,430 UNC50
    nsv6694171copy number variation1nstd229human GRCh38 chr2: 98,618,854-98,618,911 , GRCh37.p13 chr2: 99,235,317-99,235,374 MGAT4A, UNC50
    nsv6636315copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 95,341,388-100,340,514 , GRCh38.p12 chr2: 94,675,663-99,724,052 ADRA2B, ATP5F1BP1, 130 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6281918insertion1nstd214human GRCh38 chr2: 98,618,875-98,618,875 , GRCh37.p13 chr2: 99,235,338-99,235,338 MGAT4A, UNC50
    nsv6226678insertion1nstd214human GRCh38 chr2: 98,618,854-98,618,854 , GRCh37.p13 chr2: 99,235,317-99,235,317 MGAT4A, UNC50
    nsv6049671insertion1nstd212human GRCh38 chr2: 98,618,862-98,618,862 , GRCh37.p13 chr2: 99,235,325-99,235,325 UNC50, MGAT4A
    nsv5965823insertion1nstd209human GRCh38 chr2: 98,618,854-98,618,854 , GRCh37.p13 chr2: 99,235,317-99,235,317 MGAT4A, UNC50
    nsv5875162copy number variation1nstd209human GRCh38 chr2: 98,608,821-98,608,885 , GRCh37.p13 chr2: 99,225,284-99,225,348 COA5, UNC50
    nsv5622904insertion1nstd207human GRCh38 chr2: 98,618,854-98,618,854 , GRCh37.p13 chr2: 99,235,317-99,235,317 MGAT4A, UNC50
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5547958insertion1nstd206human GRCh38 chr2: 98,618,890-98,618,905 , GRCh37.p13 chr2: 99,235,353-99,235,368 UNC50, MGAT4A
    nsv5366450translocation1nstd200human GRCh38 chr12: 14,529,347-14,529,347 , GRCh38 chr2: 98,608,515-98,608,515 , GRCh37.p13 chr12: 14,682,281-14,682,281 , GRCh37.p13 chr2: 99,224,978-99,224,978 UNC50, PLBD1, 2 more genes
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv4766632inversion1nstd199human GRCh37 chr2: 87,997,505-112,010,501 , GRCh38.p12 chr1: 125,085,511-144,884,066 , GRCh38.p12 chr2: 87,697,986-111,252,924 , GRCh38.p12 chr9: 40,649,907-63,450,751 , GRCh38.p12 chr9: 40,649,751-63,450,622 , ADRA2B, 706 more genes
    nsv4762960insertion1nstd199human GRCh37 chr2: 99,235,330-99,235,330 , GRCh38.p12 chr2: 98,618,867-98,618,867 MGAT4A, UNC50
    nsv4752571inversion1nstd199human GRCh37 chr2: 87,550,795-112,295,517 , GRCh38.p12 chr1: 125,085,511-144,884,066 , GRCh38.p12 chr2: 87,323,672-111,537,940 , GRCh38.p12 chr9: 40,649,907-63,450,751 , GRCh38.p12 chr9: 40,649,751-63,450,622 , ADRA2B, 723 more genes
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