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Items: 1 to 20 of 83

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112750copy number variation1nstd102humanPathogenic GRCh37 chr2: 81,209,244-86,688,030 , GRCh38.p12 chr2: 80,982,120-86,460,907 VAMP8, TMSB10, 86 more genes
    nsv5974407inversion1nstd209human GRCh38 chr2: 81,628,747-84,582,693 , GRCh37.p13 chr2: 81,855,871-84,809,817 DHFRP3, DNAH6, 24 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5036683inversion1nstd200human GRCh38 chr2: 81,353,883-84,286,769 , GRCh37.p13 chr2: 81,581,007-84,513,893 CHMP4AP1, MTND6P7, 24 more genes
    nsv4451769copy number variation1nstd102humanPathogenic GRCh37 chr2: 74,972,080-83,043,893 , GRCh38.p12 chr2: 74,744,953-82,816,769 LOC105374824, LOC105374827, 77 more genes
    nsv4451607copy number variation1nstd102humanPathogenic GRCh37 chr2: 77,907,114-87,330,965 , GRCh38.p12 chr2: 77,679,988-87,103,842 REEP1, RBX1P1, 134 more genes
    nsv4388276copy number variation1nstd173human GRCh37 chr2: 82,465,709-82,522,073 , GRCh38.p12 chr2: 82,238,585-82,294,949 LYARP1, RNU6-685P
    nsv4376512copy number variation1nstd173human GRCh37 chr2: 82,431,663-82,544,194 , GRCh38.p12 chr2: 82,204,539-82,317,070 LYARP1, RNU6-685P
    nsv4373458copy number variation1nstd173human GRCh37 chr2: 82,443,008-82,544,194 , GRCh38.p12 chr2: 82,215,884-82,317,070 RNU6-685P, LYARP1
    nsv3967825copy number variation1nstd168human GRCh38 chr2: 82,262,942-82,320,604 , GRCh37.p13 chr2: 82,490,066-82,547,728 RNU6-685P, LYARP1
    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
    nsv3900700copy number variation1nstd102humanLikely benign GRCh37 chr2: 82,451,240-84,110,023 , NCBI36 chr2: 82,304,751-83,963,534 , GRCh38 chr2: 82,224,116-83,882,899 RBX1P1, LOC105374832, 14 more genes
    nsv3900344copy number variation1nstd102humanBenign GRCh38 chr2: 81,818,969-83,448,173 , NCBI36 chr2: 81,899,604-83,528,808 , GRCh37 chr2: 82,046,093-83,675,297 LOC105374833, LOC105374832, 13 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
    nsv3897079copy number variation1nstd102humanPathogenic GRCh38 chr2: 77,025,216-90,282,666 , NCBI36 chr2: 77,105,850-90,982,989 , GRCh37 chr2: 77,252,342-91,619,262 IGKV2D-18, RPIA, 280 more genes
    nsv3886532copy number variation1nstd102humanPathogenic GRCh37 chr2: 74,527,522-89,125,488 , GRCh38.p12 chr2: 74,300,395-88,825,975 RNU6-561P, VAMP5, 249 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
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