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Items: 1 to 20 of 930

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7147652insertion1nstd232human GRCh37.p13 chr2: 203,399,717-203,399,717 , GRCh38.p12 chr2: 202,534,994-202,534,994 BMPR2
    nsv7140572insertion1nstd232human GRCh37.p13 chr2: 203,409,935-203,409,935 , GRCh38.p12 chr2: 202,545,212-202,545,212 BMPR2
    nsv7096602copy number variation1nstd102humanUncertain significance GRCh37 chr2: 203,242,198-203,424,669 , GRCh38.p12 chr2: 202,377,475-202,559,946 BMPR2, RPL13AP12
    nsv7096227copy number variation1nstd102humanPathogenic GRCh37 chr2: 203,378,422-203,384,944 , GRCh38.p12 chr2: 202,513,699-202,520,221 RPL13AP12, BMPR2
    nsv7096226copy number variation1nstd102humanPathogenic GRCh37 chr2: 203,378,422-203,379,722 , GRCh38.p12 chr2: 202,513,699-202,514,999 BMPR2
    nsv7096125copy number variation1nstd102humanPathogenic GRCh37 chr2: 203,384,790-203,421,274 , GRCh38.p12 chr2: 202,520,067-202,556,551 RPL13AP12, BMPR2
    nsv7096124copy number variation1nstd102humanPathogenic GRCh37 chr2: 203,332,222-203,332,432 , GRCh38.p12 chr2: 202,467,499-202,467,709 BMPR2
    nsv7046493inversion1nstd229human GRCh38 chr2: 202,538,521-202,581,457 , GRCh37.p13 chr2: 203,403,244-203,446,180 BMPR2
    nsv7043493inversion1nstd229human GRCh38 chr2: 202,542,704-202,542,757 , GRCh37.p13 chr2: 203,407,427-203,407,480 BMPR2
    nsv7041668inversion1nstd229human GRCh38 chr2: 202,389,716-202,406,013 , GRCh37.p13 chr2: 203,254,439-203,270,736 BMPR2
    nsv6698070copy number variation1nstd229human GRCh38 chr2: 202,475,396-202,646,510 , GRCh37.p13 chr2: 203,340,119-203,511,233 BMPR2, MTCO1P54, 9 more genes
    nsv6697815copy number variation1nstd229human GRCh38 chr2: 202,560,416-202,564,267 , GRCh37.p13 chr2: 203,425,139-203,428,990 BMPR2
    nsv6697182copy number variation1nstd229human GRCh38 chr2: 192,562,889-202,434,958 , GRCh37.p13 chr2: 193,427,615-203,299,681 RNU6-915P, SLC44A3P1, 150 more genes
    nsv6696585copy number variation1nstd229human GRCh38 chr2: 202,398,866-202,405,426 , GRCh37.p13 chr2: 203,263,589-203,270,149 BMPR2
    nsv6696350copy number variation1nstd229human GRCh38 chr2: 202,417,293-202,422,454 , GRCh37.p13 chr2: 203,282,016-203,287,177 BMPR2
    nsv6696047copy number variation1nstd229human GRCh38 chr2: 202,430,763-202,448,171 , GRCh37.p13 chr2: 203,295,486-203,312,894 BMPR2
    nsv6693121copy number variation1nstd229human GRCh38 chr2: 202,424,143-202,428,849 , GRCh37.p13 chr2: 203,288,866-203,293,572 BMPR2
    nsv6692106copy number variation1nstd229human GRCh38 chr2: 202,096,601-202,470,300 , GRCh37.p13 chr2: 202,961,324-203,335,023 PSMA2P3, RPL39P14, 14 more genes
    nsv6691629copy number variation1nstd229human GRCh38 chr2: 202,564,074-202,708,543 , GRCh37.p13 chr2: 203,428,797-203,573,266 MTND4LP17, MTND4P30, 8 more genes
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