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Items: 1 to 20 of 338

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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
    nsv7057573inversion1nstd229human GRCh38 chr2: 207,521,365-209,493,860 , GRCh37.p13 chr2: 208,386,089-210,358,584 CRYGEP, CRYGFP, 40 more genes
    nsv6686061copy number variation1nstd229human GRCh38 chr2: 207,625,981-207,631,523 , GRCh37.p13 chr2: 208,490,705-208,496,247 METTL21A
    nsv6684655copy number variation1nstd229human GRCh38 chr2: 207,603,101-207,743,900 , GRCh37.p13 chr2: 208,467,825-208,608,624 METTL21A, RNU6-664P, 5 more genes
    nsv6680390copy number variation1nstd229human GRCh38 chr2: 207,582,688-207,582,890 , GRCh37.p13 chr2: 208,447,412-208,447,614 CREB1, METTL21A
    nsv6678790copy number variation1nstd229human GRCh38 chr2: 207,569,501-207,599,100 , GRCh37.p13 chr2: 208,434,225-208,463,824 METTL21A, CREB1
    nsv6637127copy number variation1nstd102humanPathogenic GRCh37 chr2: 189,909,904-209,468,383 , GRCh38.p12 chr2: 189,045,178-208,603,658 LOC100421409, LOC100507443, 310 more genes
    nsv6555342inversion1nstd223human GRCh38 chr2: 207,593,245-207,593,853 , GRCh37.p13 chr2: 208,457,969-208,458,577 METTL21A, CREB1
    nsv6554225inversion1nstd223human GRCh38 chr2: 207,607,115-207,607,694 , GRCh37.p13 chr2: 208,471,839-208,472,418 METTL21A
    nsv6552133inversion1nstd223human GRCh38 chr2: 207,591,532-207,592,211 , GRCh37.p13 chr2: 208,456,256-208,456,935 CREB1, METTL21A
    nsv6549484inversion1nstd223human GRCh38 chr2: 207,593,276-207,593,740 , GRCh37.p13 chr2: 208,458,000-208,458,464 METTL21A, CREB1
    nsv6353845copy number variation1nstd223human GRCh38 chr2: 207,599,201-207,600,300 , GRCh37.p13 chr2: 208,463,925-208,465,024 CREB1, METTL21A
    nsv6315398copy number variation1nstd102humanPathogenic GRCh37 chr2: 185,697,659-213,002,074 , GRCh38.p12 chr2: 184,832,932-212,137,349 LOC107985785, MYO1B, 381 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6313730copy number variation1nstd102humanPathogenic GRCh37 chr2: 200,851,079-209,054,267 , GRCh38.p12 chr2: 199,986,356-208,189,543 RN7SKP200, PIMREGP1, 179 more genes
    nsv6311631copy number variation1nstd102humanUncertain significance GRCh37 chr2: 203,420,070-211,811,277 , GRCh38.p12 chr2: 202,555,347-210,946,553 MIR3130-2, WDR12, 133 more genes
    nsv6296066copy number variation1nstd186human GRCh37 chr2: 208,486,266-208,487,489 , GRCh38.p12 chr2: 207,621,542-207,622,765 METTL21A
    nsv6296023copy number variation1nstd186human GRCh37 chr2: 208,476,342-208,586,724 , GRCh38.p12 chr2: 207,611,618-207,722,000 METTL21A, CCNYL1, 4 more genes
    nsv6293568mobile element insertion1nstd186human GRCh37 chr2: 208,446,460-208,446,511 , GRCh38.p12 chr2: 207,581,736-207,581,787 CREB1, METTL21A
    nsv6253297mobile element insertion1nstd215human GRCh38 chr2: 207,607,693-207,607,693 , GRCh37.p13 chr2: 208,472,417-208,472,417 METTL21A
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