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Items: 1 to 20 of 87

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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
    nsv4728718copy number variation1nstd102humanUncertain significance GRCh37 chr2: 76,035,305-81,220,405 , GRCh38.p12 chr2: 75,808,179-80,993,281 LOC107985904, LRRTM4-AS1, 42 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
    nsv4451455copy number variation1nstd102humanUncertain significance GRCh37 chr2: 79,889,710-81,392,136 , GRCh38.p12 chr2: 79,662,584-81,165,012 MIR8080, LOC107985904, 6 more genes
    nsv4451220copy number variation1nstd102humanUncertain significance GRCh37 chr2: 78,114,851-82,104,559 , GRCh38.p12 chr2: 77,887,725-81,877,435 LOC105374824, LINC01815, 37 more genes
    nsv4450510copy number variation1nstd102humanUncertain significance GRCh37 chr2: 76,157,543-82,375,906 , GRCh38.p12 chr2: 75,930,417-82,148,782 LOC105374815, LINC01815, 50 more genes
    nsv3919865copy number variation1nstd102humanUncertain significance NCBI36 chr2: 80,064,613-80,486,161 , GRCh37.p13 chr2: 80,211,102-80,632,650 , GRCh38.p12 chr2: 79,983,976-80,405,525 LOC107985903, LRRTM1, 4 more genes
    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
    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
    nsv3897048copy number variation1nstd102humanUncertain significance GRCh38 chr2: 79,252,886-81,305,516 , GRCh37 chr2: 79,480,012-81,532,640 , NCBI36 chr2: 79,333,520-81,386,151 LOC107985904, CTNNA2-AS1, 12 more genes
    nsv3896461copy number variation1nstd102humanUncertain significance GRCh37 chr2: 80,211,109-80,771,565 , GRCh38 chr2: 79,983,983-80,544,440 , NCBI36 chr2: 80,064,620-80,625,076 CTNNA2, LRRTM1, 4 more genes
    nsv3895052copy number variation1nstd102humanUncertain significance NCBI36 chr2: 79,761,361-81,055,101 , GRCh37 chr2: 79,907,853-81,201,590 , GRCh38 chr2: 79,680,727-80,974,466 RBM7P1, LOC107985904, 6 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
    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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