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Items: 1 to 20 of 112

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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
    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
    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
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 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
    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
    nsv4728446copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 215,122,019-220,397,907 , GRCh38.p12 chr2: 214,257,295-219,533,185 AAMP, ATIC, 139 more genes
    nsv4673965copy number variation1nstd102humanPathogenic GRCh37 chr2: 216,883,237-220,953,003 , GRCh38.p12 chr2: 216,018,514-220,088,282 LOC105373887, STK11IP, 138 more genes
    nsv4519352copy number variation1nstd166human GRCh37.p13 chr2: 219,134,552-219,134,630 , GRCh38.p12 chr2: 218,269,829-218,269,907 PNKD, AAMP
    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
    nsv4347291copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 218,271,898-219,825,640 , GRCh38.p12 chr2: 217,407,175-218,960,918 AAMP, BCS1L, 51 more genes
    nsv4315068inversion1nstd166human GRCh37.p13 chr2: 208,775,197-231,007,646 , GRCh38.p12 chr2: 207,910,473-230,142,930 , BCS1L, 344 more genes
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