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Items: 1 to 20 of 158

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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
    nsv7096608copy number variation1nstd102humanUncertain significance GRCh37 chr2: 219,135,259-219,209,704 , GRCh38.p12 chr2: 218,270,536-218,344,981 LOC105373881, AAMP, 6 more genes
    nsv7048316inversion1nstd229human GRCh38 chr2: 217,690,925-222,070,373 , GRCh37.p13 chr2: 218,555,648-222,935,092 LOC105373895, CXCR2P1, 119 more genes
    nsv6697737copy number variation1nstd229human GRCh38 chr2: 218,278,917-218,284,815 , GRCh37.p13 chr2: 219,143,640-219,149,538 TMBIM1, MIR6513, 1 more genes
    nsv6693617copy number variation1nstd229human GRCh38 chr2: 218,287,541-218,291,550 , GRCh37.p13 chr2: 219,152,264-219,156,273 TMBIM1, PNKD
    nsv6689222copy number variation1nstd229human GRCh38 chr2: 218,273,501-218,280,500 , GRCh37.p13 chr2: 219,138,224-219,145,223 TMBIM1, PNKD, 1 more genes
    nsv6685864copy number variation1nstd229human GRCh38 chr2: 216,932,763-218,687,760 , GRCh37.p13 chr2: 217,797,486-219,552,483 LOC105373872, IGFBP-AS1, 45 more genes
    nsv6682539copy number variation1nstd229human GRCh38 chr2: 218,243,701-218,286,200 , GRCh37.p13 chr2: 219,108,424-219,150,923 TMBIM1, MIR6513, 5 more genes
    nsv6355557copy number variation1nstd223human GRCh38 chr2: 218,287,541-218,291,547 , GRCh37.p13 chr2: 219,152,264-219,156,270 TMBIM1, PNKD
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6313768copy number variation1nstd102humanUncertain significance GRCh37 chr2: 218,210,665-220,141,650 , GRCh38.p12 chr2: 217,345,942-219,276,928 PNKD, RNU6-136P, 73 more genes
    nsv6313686copy number variation1nstd102humanPathogenic GRCh37 chr2: 215,108,009-221,679,980 , GRCh38.p12 chr2: 214,243,285-220,815,260 BCS1L, LOC105373880, 160 more genes
    nsv6311374copy number variation2nstd102humanUncertain significance GRCh37 chr2: 218,999,525-220,435,954 , GRCh38.p12 chr2: 218,134,802-219,571,232 CHPF, WNT6, 83 more genes
    nsv6300079copy number variation1nstd186human GRCh37 chr2: 219,138,762-219,138,943 , GRCh38.p12 chr2: 218,274,039-218,274,220 PNKD, TMBIM1
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5446682copy number variation1nstd206human GRCh38 chr2: 218,274,039-218,274,220 , GRCh37.p13 chr2: 219,138,762-219,138,943 PNKD, TMBIM1
    nsv5442204copy number variation1nstd206human GRCh38 chr2: 218,278,893-218,284,832 , GRCh37.p13 chr2: 219,143,616-219,149,555 PNKD, TMBIM1, 1 more genes
    nsv5377354translocation1nstd200human GRCh38 chr19: 36,667,948-36,667,948 , GRCh38 chr2: 218,292,933-218,292,933 , GRCh37.p13 chr19: 37,158,850-37,158,850 , GRCh37.p13 chr2: 219,157,656-219,157,656 PNKD, TMBIM1, 1 more genes
    nsv5205806copy number variation1nstd204human GRCh38.p13 chr2: 218,240,201-218,420,200 , GRCh37.p13 chr2: 219,104,924-219,284,923 CATIP, CATIP-AS1, 16 more genes
    nsv5029880inversion1nstd200human GRCh38 chr2: 213,444,845-219,177,092 , GRCh37.p13 chr2: 214,309,569-220,041,814 , LOC102724861, 122 more genes
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