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Items: 1 to 20 of 358

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7145192copy number variation1nstd232human GRCh37.p13 chr11: 1,971,807-1,971,924 , GRCh38.p12 chr11: 1,950,577-1,950,694 MRPL23
    nsv7137667copy number variation1nstd232human GRCh37.p13 chr11: 1,971,844-1,971,961 , GRCh38.p12 chr11: 1,950,614-1,950,731 MRPL23
    nsv7094186copy number variation1nstd102humanUncertain significance GRCh37 chr11: 721,044-3,988,932 , GRCh38.p12 chr11: 721,044-3,967,702 OR7E117P, RPLP2, 124 more genes
    nsv7093926copy number variation1nstd102humanUncertain significance GRCh37 chr11: 1,774,733-2,019,125 , GRCh38.p12 chr11: 1,753,503-1,997,895 LINC01219, MIR7847, 16 more genes
    nsv7093761copy number variation1nstd102humanUncertain significance GRCh37 chr11: 1,278,740-2,906,719 , GRCh38.p12 chr11: 1,257,510-2,885,489 TOLLIP-DT, KRTAP5-6, 58 more genes
    nsv6885276copy number variation1nstd229human GRCh38 chr11: 1,136,035-3,145,463 , GRCh37.p13 chr11: 1,129,943-3,166,693 KRTAP5-1, MIR675, 69 more genes
    nsv6637864copy number variation1nstd102humanPathogenic GRCh37 chr11: 230,616-8,250,724 , GRCh38.p12 chr11: 230,616-8,229,177 PNPLA2, OR52H1, 372 more genes
    nsv6637463copy number variation1nstd102humanPathogenic GRCh37 chr11: 1,980,946-2,054,887 , GRCh38.p12 chr11: 1,959,716-2,033,657 MIR675, MRPL23, 3 more genes
    nsv6637212copy number variation1nstd102humanPathogenic GRCh37 chr11: 461,373-2,157,956 , GRCh38.p12 chr11: 461,373-2,136,726 MIR6744, PTDSS2, 80 more genes
    nsv6635415copy number variation4nstd227human GRCh37 chr11: 2,034,099-2,057,647 , GRCh38.p12 chr11: 2,012,869-2,036,417 MRPL23
    nsv6634781copy number variation2nstd227human GRCh37 chr11: 1,972,205-2,057,647 , GRCh38.p12 chr11: 1,950,975-2,036,417 MRPL23, H19, 3 more genes
    nsv6634327copy number variation1nstd102humanPathogenic GRCh38 chr11: 499,700-5,279,697 , GRCh37.p13 chr11: 499,700-5,300,927 SNORA54, PIDD1, 219 more genes
    nsv6438165copy number variation1nstd223human GRCh38 chr11: 737,066-3,896,161 , GRCh37.p13 chr11: 737,066-3,917,391 RNU6-878P, CARS1-AS1, 123 more genes
    nsv6315550copy number variation1nstd102humanPathogenic GRCh37 chr11: 1,621,232-2,228,572 , GRCh38.p12 chr11: 1,600,002-2,207,342 IGF2-AS, SNORD131, 31 more genes
    nsv6315535copy number variation1nstd102humanPathogenic GRCh37 chr11: 230,615-26,881,146 , GRCh38.p12 chr11: 230,615-26,859,599 OR52Q1P, RNU6-593P, 630 more genes
    nsv6314539complex chromosomal rearrangement5nstd102humanLikely pathogenic GRCh37 chr11: 1,915,057-1,915,057 , GRCh37 chr11: 1,915,843-1,915,843 , GRCh37 chr11: 1,936,668-1,936,668 , GRCh37 chr11: 1,936,993-1,936,993 , GRCh37 chr11: 1,960,727-1,960,727 , GRCh37 chr11: 1,961,361-1,961,361 , GRCh37 chr11: 1,984,895-1,984,895 , GRCh37 chr11: 1,985,019-1,985,019 , GRCh38.p12 chr11: 1,893,827-1,893,827 , GRCh38.p12 chr11: 1,894,613-1,894,613 , GRCh38.p12 chr11: 1,963,665-1,963,665 , GRCh38.p12 chr11: 1,963,789-1,963,789 , GRCh38.p12 chr11: 1,915,438-1,915,438 , GRCh38.p12 chr11: 1,915,763-1,915,763 , GRCh38.p12 chr11: 1,939,497-1,939,497 , GRCh38.p12 chr11: 1,940,131-1,940,131 , GRCh38.p12 chr2: 69,361,132-69,361,132 , GRCh38.p12 chr2: 69,361,288-69,361,288 , GRCh37 chr2: 69,588,264-69,588,264 , GRCh37 chr2: 69,588,420-69,588,420 GFPT1, MRPL23
    nsv6303522copy number variation1nstd186human GRCh37 chr11: 1,977,609-1,977,669 , GRCh38.p12 chr11: 1,956,379-1,956,439 MRPL23
    nsv6291427copy number variation1nstd102humannot provided GRCh37 chr11: 230,615-5,525,355 , GRCh38.p12 chr11: 230,615-5,504,125 OR52J1P, IFITM1, 255 more genes
    nsv6291085copy number variation1nstd102humanLikely pathogenic GRCh37 chr11: 1,719,815-2,321,109 , GRCh38.p12 chr11: 1,698,585-2,299,879 ASCL2, CTSD, 27 more genes
    nsv6282548insertion1nstd214human GRCh38 chr11: 1,950,747-1,950,747 , GRCh37.p13 chr11: 1,971,977-1,971,977 MRPL23
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