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Items: 1 to 20 of 153

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096921copy number variation1nstd102humanPathogenic GRCh37 chr2: 9,645,275-9,650,280 , GRCh38.p12 chr2: 9,505,146-9,510,151 IAH1, ADAM17
    nsv7096918copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr2: 7,968,276-10,192,634 , GRCh38.p12 chr2: 7,828,145-10,052,507 ITGB1BP1, LINC00299, 37 more genes
    nsv7051196inversion1nstd229human GRCh38 chr2: 9,336,629-9,587,857 , GRCh37.p13 chr2: 9,476,758-9,727,986 ASAP2, ITGB1BP1, 5 more genes
    nsv7041767inversion1nstd229human GRCh38 chr2: 7,061,548-10,183,852 , GRCh37.p13 chr2: 7,201,679-10,323,978 LINC00298, KLF11, 52 more genes
    nsv6673819copy number variation1nstd229human GRCh38 chr2: 9,478,003-9,483,908 , GRCh37.p13 chr2: 9,618,132-9,624,037 IAH1
    nsv6666576copy number variation1nstd229human GRCh38 chr2: 6,592,339-11,769,396 , GRCh37.p13 chr2: 6,732,471-11,909,522 RN7SKP112, LOC101929861, 103 more genes
    nsv6665692copy number variation1nstd229human GRCh38 chr2: 9,252,001-9,587,800 , GRCh37.p13 chr2: 9,392,130-9,727,929 ADAM17, ITGB1BP1, 6 more genes
    nsv6664605copy number variation1nstd229human GRCh38 chr2: 9,478,463-9,478,615 , GRCh37.p13 chr2: 9,618,592-9,618,744 IAH1
    nsv6663434copy number variation1nstd229human GRCh38 chr2: 9,478,856-9,481,507 , GRCh37.p13 chr2: 9,618,985-9,621,636 IAH1
    nsv6663117copy number variation1nstd229human GRCh38 chr2: 9,487,480-9,487,555 , GRCh37.p13 chr2: 9,627,609-9,627,684 IAH1, ADAM17
    nsv6636815copy number variation1nstd102humanPathogenic GRCh37 chr2: 706,460-35,523,639 , GRCh38.p12 chr2: 706,460-35,298,573 LOC105374455, RN7SL674P, 504 more genes
    nsv6353691copy number variation1nstd223human GRCh38 chr2: 9,502,601-9,505,000 , GRCh37.p13 chr2: 9,642,730-9,645,129 ADAM17, IAH1
    nsv6346996copy number variation1nstd223human GRCh38 chr2: 9,478,003-9,483,906 , GRCh37.p13 chr2: 9,618,132-9,624,035 IAH1
    nsv6342595copy number variation1nstd223human GRCh38 chr2: 9,510,507-9,520,771 , GRCh37.p13 chr2: 9,650,636-9,660,900 ADAM17, IAH1
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6298419copy number variation1nstd186human GRCh37 chr2: 9,627,609-9,627,679 , GRCh38.p12 chr2: 9,487,480-9,487,550 IAH1, ADAM17
    nsv6295661copy number variation1nstd186human GRCh37 chr2: 9,642,811-9,643,771 , GRCh38.p12 chr2: 9,502,682-9,503,642 ADAM17, IAH1
    nsv6290643copy number variation1nstd102humanUncertain significance GRCh37 chr2: 8,935,077-15,722,794 , GRCh38.p12 chr2: 8,794,947-15,582,670 PPIAP60, LOC105373431, 95 more genes
    nsv6139917copy number variation1nstd206human GRCh38 chr2: 9,503,044-9,504,778 , GRCh37.p13 chr2: 9,643,173-9,644,907 ADAM17, IAH1
    nsv6048271insertion1nstd212human GRCh38 chr2: 9,478,577-9,478,577 , GRCh37.p13 chr2: 9,618,706-9,618,706 IAH1
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