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Items: 1 to 20 of 136

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5442387copy number variation1nstd206human GRCh38 chr2: 68,127,921-68,128,627 , GRCh37.p13 chr2: 68,355,053-68,355,759 DNAAF10
    nsv5285686copy number variation1nstd204human GRCh38.p13 chr2: 67,572,559-68,620,203 , GRCh37.p13 chr2: 67,799,691-68,847,335 , DNAAF10, 18 more genes
    nsv4901739copy number variation1nstd200human GRCh38 chr2: 68,137,580-68,140,920 , GRCh37.p13 chr2: 68,364,712-68,368,052 DNAAF10
    nsv4901738copy number variation1nstd200human GRCh38 chr2: 68,127,921-68,128,627 , GRCh37.p13 chr2: 68,355,053-68,355,759 DNAAF10
    nsv4776461copy number variation1nstd200human GRCh37 chr2: 68,364,712-68,368,052 , GRCh38.p12 chr2: 68,137,580-68,140,920 DNAAF10
    nsv4776460copy number variation1nstd200human GRCh37 chr2: 68,355,053-68,355,759 , GRCh38.p12 chr2: 68,127,921-68,128,627 DNAAF10
    nsv4772360copy number variation1nstd200human GRCh37 chr2: 67,799,699-68,847,328 , GRCh38.p12 chr2: 67,572,567-68,620,196 , LOC101927723, 18 more genes
    nsv4519428copy number variation1nstd166human GRCh37.p13 chr2: 68,359,126-68,361,730 , GRCh38.p12 chr2: 68,131,994-68,134,598 DNAAF10
    nsv4347438copy number variation1nstd102humanPathogenic GRCh37 chr2: 67,491,378-69,679,404 , GRCh38.p12 chr2: 67,264,246-69,452,272 LINC02831, ANTXR1, 38 more genes
    nsv4069041copy number variation1nstd166human GRCh37.p13 chr2: 68,355,053-68,355,759 , GRCh38.p12 chr2: 68,127,921-68,128,627 DNAAF10
    nsv4066895copy number variation1nstd166human GRCh37.p13 chr2: 68,370,695-68,371,230 , GRCh38.p12 chr2: 68,143,563-68,144,098 DNAAF10
    nsv3916821copy number variation1nstd102humanPathogenic NCBI36 chr2: 47,701,031-86,783,356 , GRCh37.p13 chr2: 47,847,527-86,929,845 , GRCh38.p12 chr2: 47,620,388-86,702,722 NAGK, NRXN1-DT, 595 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 DAZAP2P1, RPL36AP16, 2991 more genes
    nsv3903805copy number variation1nstd102humanBenign GRCh37 chr2: 7,635,254-88,005,418 , NCBI36 chr2: 7,552,705-87,786,533 , GRCh38 chr2: 7,495,123-87,705,899 LOC101927723, SANBR, 1246 more genes
    nsv3903130copy number variation1nstd102humanLikely pathogenic NCBI36 chr2: 64,667,733-69,956,947 , GRCh37 chr2: 64,814,229-70,103,443 , GRCh38 chr2: 64,587,095-69,876,311 ANXA4, GFPT1, 93 more genes
    nsv3900298copy number variation1nstd102humanPathogenic GRCh37 chr2: 58,506,654-83,814,086 , GRCh38 chr2: 58,279,519-83,586,962 , NCBI36 chr2: 58,360,158-83,667,597 MIR1285-2, SERTAD2, 404 more genes
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 RNU6-674P, KANSL3, 3735 more genes
    nsv3883931copy number variation1nstd102humanPathogenic GRCh37 chr2: 63,671,346-85,698,002 , GRCh38.p12 chr2: 63,444,212-85,470,879 LINC01888, RNU7-64P, 367 more genes
    nsv3882615copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232 MTND2P22, LOC112268410, 3724 more genes
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