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Items: 1 to 20 of 121

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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
    nsv7047209inversion1nstd229human GRCh38 chr2: 222,803,564-227,992,948 , GRCh37.p13 chr2: 223,668,283-228,857,664 MFF, LOC100289117, 55 more genes
    nsv7043640inversion1nstd229human GRCh38 chr2: 222,841,128-228,011,478 , GRCh37.p13 chr2: 223,705,846-228,876,194 MFF-DT, LOC105373905, 55 more genes
    nsv6693544copy number variation1nstd229human GRCh38 chr2: 223,050,229-223,050,375 , GRCh37.p13 chr2: 223,914,947-223,915,093 KCNE4
    nsv6546900inversion1nstd223human GRCh38 chr2: 220,988,201-223,580,063 , GRCh37.p13 chr2: 221,852,921-224,444,781 ATG12P2, LOC105373902, 34 more genes
    nsv6541897inversion1nstd223human GRCh38 chr2: 222,820,560-223,434,020 , GRCh37.p13 chr2: 223,685,279-224,298,738 KCNE4, RN7SL807P, 8 more genes
    nsv6351609copy number variation1nstd223human GRCh38 chr2: 223,049,122-223,050,131 , GRCh37.p13 chr2: 223,913,840-223,914,849 KCNE4
    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
    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
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5062409mobile element insertion1nstd203human GRCh38 chr2: 223,054,860-223,054,875 , GRCh37.p13 chr2: 223,919,578-223,919,593 KCNE4
    nsv5038383inversion1nstd200human GRCh38 chr2: 222,072,838-224,063,267 , GRCh37.p13 chr2: 222,937,557-224,927,984 GAPDHP49, ACSL3-AS1, 31 more genes
    nsv5035490inversion1nstd200human GRCh38 chr2: 222,820,558-223,434,020 , GRCh37.p13 chr2: 223,685,277-224,298,738 LOC105373905, LOC100419511, 8 more genes
    nsv4885260inversion1nstd200human GRCh37 chr2: 222,937,557-224,927,984 , GRCh38.p12 chr2: 222,072,838-224,063,267 CCDC140, WDFY1, 31 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
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