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Items: 1 to 20 of 551

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6137773copy number variation1nstd102humanPathogenic GRCh37 chr2: 32,361,622-32,361,717 , GRCh38.p12 chr2: 32,136,553-32,136,648 SPAST
    nsv6137754copy number variation1nstd102humanPathogenic GRCh37 chr2: 32,352,007-32,379,575 , GRCh38.p12 chr2: 32,126,938-32,154,506 SPAST
    nsv6112680copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 24,881,528-43,460,021 , GRCh38.p12 chr2: 24,658,659-43,232,882 ADCY3, ALK, 314 more genes
    nsv5957534insertion1nstd209human GRCh38 chr2: 32,140,772-32,140,772 , GRCh37.p13 chr2: 32,365,841-32,365,841 SPAST
    nsv5879247copy number variation1nstd209human GRCh38 chr2: 32,134,555-32,134,946 , GRCh37.p13 chr2: 32,359,624-32,360,015 SPAST
    nsv5873895copy number variation1nstd209human GRCh38 chr2: 32,068,154-32,084,230 , GRCh37.p13 chr2: 32,293,223-32,309,299 SPAST
    nsv5832941copy number variation2nstd209human GRCh38 chr2: 32,107,805-32,109,154 , GRCh37.p13 chr2: 32,332,874-32,334,223 SPAST
    nsv5832863copy number variation1nstd209human GRCh38 chr2: 32,107,105-32,109,504 , GRCh37.p13 chr2: 32,332,174-32,334,573 SPAST
    nsv5832862copy number variation2nstd209human GRCh38 chr2: 32,068,247-32,074,146 , GRCh37.p13 chr2: 32,293,316-32,299,215 SPAST
    nsv5832615copy number variation1nstd209human GRCh38 chr2: 32,081,826-32,083,225 , GRCh37.p13 chr2: 32,306,895-32,308,294 SPAST
    nsv5832614copy number variation1nstd209human GRCh38 chr2: 32,069,548-32,080,525 , GRCh37.p13 chr2: 32,294,617-32,305,594 SPAST
    nsv5832613copy number variation2nstd209human GRCh38 chr2: 32,069,547-32,071,846 , GRCh37.p13 chr2: 32,294,616-32,296,915 SPAST
    nsv5689586mobile element insertion2nstd211human GRCh38 chr2: 32,096,662-32,096,662 , GRCh37.p13 chr2: 32,321,731-32,321,731 SPAST
    nsv5684942mobile element insertion2nstd211human GRCh38 chr2: 32,140,788-32,140,788 , GRCh37.p13 chr2: 32,365,857-32,365,857 SPAST
    nsv5673700copy number variation1nstd102humanPathogenic GRCh37 chr2: 32,366,967-32,372,333 , GRCh38.p12 chr2: 32,141,898-32,147,264 SPAST
    nsv5673699copy number variation1nstd102humanPathogenic GRCh37 chr2: 32,339,697-32,379,575 , GRCh38.p12 chr2: 32,114,628-32,154,506 SPAST
    nsv5673698copy number variation1nstd102humanPathogenic GRCh37 chr2: 32,288,901-32,366,973 , GRCh38.p12 chr2: 32,063,832-32,141,904 SPAST
    nsv5673537copy number variation1nstd102humanPathogenic GRCh37 chr2: 32,361,622-32,379,575 , GRCh38.p12 chr2: 32,136,553-32,154,506 SPAST
    nsv5673536copy number variation1nstd102humanPathogenic GRCh37 chr2: 32,288,891-32,341,291 , GRCh38.p12 chr2: 32,063,822-32,116,222 SPAST
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