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Items: 1 to 20 of 240

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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
    nsv7056278inversion1nstd229human GRCh38 chr2: 220,988,202-223,580,062 , GRCh37.p13 chr2: 221,852,922-224,444,780 ACSL3, LOC105373907, 34 more genes
    nsv7047506inversion1nstd229human GRCh38 chr2: 222,618,340-223,958,759 , GRCh37.p13 chr2: 223,483,059-224,823,476 LOC105373903, LOC105373906, 22 more genes
    nsv6691224copy number variation1nstd229human GRCh38 chr2: 222,678,926-222,686,727 , GRCh37.p13 chr2: 223,543,645-223,551,446 MOGAT1
    nsv6691076copy number variation1nstd229human GRCh38 chr2: 222,678,309-222,679,791 , GRCh37.p13 chr2: 223,543,028-223,544,510 RRAS2P2, MOGAT1
    nsv6689029copy number variation1nstd229human GRCh38 chr2: 222,705,570-222,799,382 , GRCh37.p13 chr2: 223,570,289-223,664,101 MOGAT1, LOC105373903, 1 more genes
    nsv6684217copy number variation1nstd229human GRCh38 chr2: 222,662,601-222,673,000 , GRCh37.p13 chr2: 223,527,320-223,537,719 MOGAT1
    nsv6628057copy number variation1nstd224human GRCh37 chr2: 223,488,778-223,743,187 , GRCh38.p12 chr2: 222,624,059-222,878,469 ACSL3, FARSB, 6 more genes
    nsv6547616inversion1nstd223human GRCh38 chr2: 222,684,176-222,684,625 , GRCh37.p13 chr2: 223,548,895-223,549,344 MOGAT1
    nsv6546900inversion1nstd223human GRCh38 chr2: 220,988,201-223,580,063 , GRCh37.p13 chr2: 221,852,921-224,444,781 ATG12P2, LOC105373902, 34 more genes
    nsv6538563inversion1nstd223human GRCh38 chr2: 222,690,413-222,691,218 , GRCh37.p13 chr2: 223,555,132-223,555,937 MOGAT1
    nsv6537984inversion1nstd223human GRCh38 chr2: 222,685,829-222,687,140 , GRCh37.p13 chr2: 223,550,548-223,551,859 MOGAT1
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315345copy number variation1nstd102humanPathogenic GRCh37 chr2: 222,902,251-226,084,516 , GRCh38.p12 chr2: 222,037,532-225,219,799 LOC105373911, LOC105373908, 43 more genes
    nsv6313668copy number variation1nstd102humanPathogenic GRCh37 chr2: 219,606,537-239,217,703 , GRCh38.p12 chr2: 218,741,814-238,309,062 LOC105373947, RN7SL764P, 357 more genes
    nsv6313567copy number variation1nstd102humanPathogenic GRCh37 chr2: 222,828,685-224,451,613 , GRCh38.p12 chr2: 221,963,966-223,586,895 LOC105373905, LOC105373902, 26 more genes
    nsv6253431mobile element insertion1nstd215human GRCh38 chr2: 222,693,555-222,693,555 , GRCh37.p13 chr2: 223,558,274-223,558,274 MOGAT1
    nsv6253430mobile element insertion1nstd215human GRCh38 chr2: 222,673,346-222,673,346 , GRCh37.p13 chr2: 223,538,065-223,538,065 MOGAT1
    nsv6112757copy number variation1nstd102humanPathogenic GRCh37 chr2: 220,056,891-227,164,817 , GRCh38.p12 chr2: 219,192,169-226,300,101 DES, SPEG, 100 more genes
    nsv5962939insertion1nstd209human GRCh38 chr2: 222,680,442-222,680,442 , GRCh37.p13 chr2: 223,545,161-223,545,161 MOGAT1
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