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Items: 1 to 20 of 622

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148175copy number variation1nstd102humanPathogenic GRCh38 chr1: 230,178,121-243,646,135 , GRCh37.p13 chr1: 230,313,867-243,809,437 AGT, MAP10, 221 more genes
    nsv7148158copy number variation1nstd102humanPathogenic GRCh38 chr1: 235,215,476-247,005,888 , GRCh37.p13 chr1: 235,378,791-247,169,190 RNU6-747P, LINC01139, 172 more genes
    nsv7137218insertion1nstd232human GRCh37.p13 chr1: 236,919,669-236,919,669 , GRCh38.p12 chr1: 236,756,369-236,756,369 ACTN2
    nsv7099269copy number variation1nstd231human GRCh38.p12 chr1: 236,539,361-237,579,972 , GRCh37 chr1: 236,702,661-237,743,272 ACTN2, LGALS8, 10 more genes
    nsv7096033copy number variation1nstd102humanUncertain significance GRCh37 chr1: 236,917,227-236,920,952 , GRCh38.p12 chr1: 236,753,927-236,757,652 ACTN2
    nsv7096032copy number variation1nstd102humanUncertain significance GRCh37 chr1: 236,906,176-236,925,919 , GRCh38.p12 chr1: 236,742,876-236,762,619 ACTN2
    nsv7096031copy number variation1nstd102humanUncertain significance GRCh37 chr1: 236,849,974-236,850,119 , GRCh38.p12 chr1: 236,686,674-236,686,819 ACTN2
    nsv7095595copy number variation1nstd102humanUncertain significance GRCh37 chr1: 236,902,582-237,995,947 , GRCh38.p12 chr1: 236,739,282-237,832,647 MIR4428, MT1HL1, 8 more genes
    nsv7095594copy number variation1nstd102humanUncertain significance GRCh37 chr1: 236,902,582-236,902,852 , GRCh38.p12 chr1: 236,739,282-236,739,552 ACTN2
    nsv7093371copy number variation1nstd102humannot provided GRCh37 chr1: 224,230,307-243,181,599 , GRCh38.p12 chr1: 224,042,605-243,018,297 RPL36P6, MTND4LP21, 377 more genes
    nsv7053416inversion1nstd229human GRCh38 chr1: 236,730,941-236,731,025 , GRCh37.p13 chr1: 236,894,241-236,894,325 ACTN2
    nsv7045904inversion1nstd229human GRCh38 chr1: 236,415,671-241,161,975 , GRCh37.p13 chr1: 236,578,971-241,325,275 PSMD2P1, RN7SKP195, 55 more genes
    nsv7044547inversion1nstd229human GRCh38 chr1: 234,053,817-240,091,334 , GRCh37.p13 chr1: 234,189,563-240,254,634 RNU6-725P, RNU6-968P, 101 more genes
    nsv7041928inversion1nstd229human GRCh38 chr1: 236,749,723-236,749,866 , GRCh37.p13 chr1: 236,913,023-236,913,166 ACTN2
    nsv6677736copy number variation1nstd229human GRCh38 chr1: 236,693,304-236,699,299 , GRCh37.p13 chr1: 236,856,604-236,862,599 ACTN2
    nsv6676698copy number variation1nstd229human GRCh38 chr1: 236,764,903-236,768,102 , GRCh37.p13 chr1: 236,928,203-236,931,402 ACTN2
    nsv6676513copy number variation1nstd229human GRCh38 chr1: 236,693,939-236,700,884 , GRCh37.p13 chr1: 236,857,239-236,864,184 ACTN2
    nsv6666704copy number variation1nstd229human GRCh38 chr1: 236,728,913-236,729,898 , GRCh37.p13 chr1: 236,892,213-236,893,198 ACTN2
    nsv6664511copy number variation1nstd229human GRCh38 chr1: 236,679,043-236,684,492 , GRCh37.p13 chr1: 236,842,343-236,847,792 ACTN2
    nsv6662017copy number variation1nstd229human GRCh38 chr1: 236,732,721-236,741,324 , GRCh37.p13 chr1: 236,896,021-236,904,624 ACTN2
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