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Items: 1 to 20 of 145

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7096604copy number variation1nstd102humanPathogenic GRCh37 chr2: 210,636,797-213,403,254 , GRCh38.p12 chr2: 209,772,073-212,538,530 MTCO1P46, LOC100420775, 19 more genes
    nsv6694216copy number variation1nstd229human GRCh38 chr2: 209,994,601-210,018,200 , GRCh37.p13 chr2: 210,859,325-210,882,924 UNC80, RPE
    nsv6691867copy number variation1nstd229human GRCh38 chr2: 210,015,201-210,048,731 , GRCh37.p13 chr2: 210,879,925-210,913,455 RPE, KANSL1L, 1 more genes
    nsv6690733copy number variation1nstd229human GRCh38 chr2: 210,012,991-210,015,362 , GRCh37.p13 chr2: 210,877,715-210,880,086 RPE
    nsv6678786copy number variation1nstd229human GRCh38 chr2: 209,991,181-210,025,824 , GRCh37.p13 chr2: 210,855,905-210,890,548 KANSL1L, RPE, 1 more genes
    nsv6627618copy number variation1nstd224human GRCh37 chr2: 210,874,361-210,892,066 , GRCh38.p12 chr2: 210,009,637-210,027,342 RPE, KANSL1L
    nsv6347384copy number variation1nstd223human GRCh38 chr2: 210,021,201-210,022,600 , GRCh37.p13 chr2: 210,885,925-210,887,324 KANSL1L, RPE
    nsv6345970copy number variation1nstd223human GRCh38 chr2: 210,022,319-210,023,038 , GRCh37.p13 chr2: 210,887,043-210,887,762 RPE, KANSL1L
    nsv6315398copy number variation1nstd102humanPathogenic GRCh37 chr2: 185,697,659-213,002,074 , GRCh38.p12 chr2: 184,832,932-212,137,349 LOC107985785, MYO1B, 381 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6311631copy number variation1nstd102humanUncertain significance GRCh37 chr2: 203,420,070-211,811,277 , GRCh38.p12 chr2: 202,555,347-210,946,553 MIR3130-2, WDR12, 133 more genes
    nsv5723940mobile element insertion1nstd211human GRCh38 chr2: 210,013,813-210,013,813 , GRCh37.p13 chr2: 210,878,537-210,878,537 RPE
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4728545copy number variation1nstd102humanPathogenic GRCh37 chr2: 204,445,619-212,580,788 , GRCh38.p12 chr2: 203,580,896-211,716,063 FASTKD2, MYL6BP1, 110 more genes
    nsv4674383copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464 SNORA41, LOC101929633, 663 more genes
    nsv4436532copy number variation1nstd102humanPathogenic GRCh37 chr2: 188,926,928-225,298,653 , GRCh38.p12 chr2: 188,062,201-224,433,936 MARS2, KRT18P19, 575 more genes
    nsv4435891copy number variation1nstd102humanPathogenic GRCh37 chr2: 210,779,657-239,879,183 , GRCh38.p12 chr2: 209,914,933-238,957,487 XRCC5, LINC01173, 494 more genes
    nsv4316119inversion1nstd166human GRCh37.p13 chr2: 187,130,612-218,396,189 , GRCh38.p12 chr2: 186,265,885-217,531,466 , ACADL, 453 more genes
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