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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137815delins1nstd102humanLikely pathogenic GRCh38 chr12: 21,580,459-21,580,531 , GRCh37 chr12: 21,733,393-21,733,465 GYS2
    nsv5977272insertion1nstd209human GRCh38 chr12: 21,558,922-21,558,922 , GRCh37.p13 chr12: 21,711,856-21,711,856 GYS2
    nsv5923742copy number variation1nstd209human GRCh38 chr12: 21,398,810-28,763,815 , GRCh37.p13 chr12: 21,551,744-28,916,748 , LOC105369710, 101 more genes
    nsv5916901copy number variation1nstd209human GRCh38 chr12: 21,398,719-28,763,765 , GRCh37.p13 chr12: 21,551,653-28,916,698 , LOC105369704, 101 more genes
    nsv5860638copy number variation1nstd209human GRCh38 chr12: 21,566,949-21,569,231 , GRCh37.p13 chr12: 21,719,883-21,722,165 GYS2
    nsv5858735copy number variation1nstd209human GRCh38 chr12: 21,571,132-21,572,131 , GRCh37.p13 chr12: 21,724,066-21,725,065 GYS2
    nsv5374035translocation1nstd200human GRCh38 chr12: 21,575,963-21,575,963 , GRCh38 chr12: 21,598,348-21,598,348 , GRCh37.p13 chr12: 21,728,897-21,728,897 , GRCh37.p13 chr12: 21,751,282-21,751,282 GYS2
    nsv5374034translocation1nstd200human GRCh38 chr12: 21,602,303-21,602,303 , GRCh38 chr12: 21,575,960-21,575,960 , GRCh37.p13 chr12: 21,728,894-21,728,894 , GRCh37.p13 chr12: 21,755,237-21,755,237 GYS2
    nsv5355598translocation1nstd200human GRCh38 chr12: 21,580,458-21,580,458 , GRCh38 chr12: 21,580,531-21,580,531 , GRCh37.p13 chr12: 21,733,465-21,733,465 , GRCh37.p13 chr12: 21,733,392-21,733,392 GYS2
    nsv5355597translocation1nstd200human GRCh38 chr12: 21,574,830-21,574,830 , GRCh38 chr12: 21,576,407-21,576,407 , GRCh37.p13 chr12: 21,727,764-21,727,764 , GRCh37.p13 chr12: 21,729,341-21,729,341 GYS2
    nsv5345496translocation1nstd200human GRCh37 chr12: 21,751,282-21,751,282 , GRCh37 chr12: 21,728,897-21,728,897 , GRCh38.p12 chr12: 21,575,963-21,575,963 , GRCh38.p12 chr12: 21,598,348-21,598,348 GYS2
    nsv5340486translocation1nstd200human GRCh37 chr12: 21,755,237-21,755,237 , GRCh37 chr12: 21,728,894-21,728,894 , GRCh38.p12 chr12: 21,575,960-21,575,960 , GRCh38.p12 chr12: 21,602,303-21,602,303 GYS2
    nsv5323122inversion1nstd204human GRCh37.p13 chr12: 6,338,815-22,046,498 , GRCh38.p13 chr12: 6,229,649-21,893,564 , A2M, 414 more genes
    nsv5315935copy number variation1nstd204human GRCh38.p13 chr12: 21,518,079-21,588,622 , GRCh37.p13 chr12: 21,671,013-21,741,556 GOLT1B, GYS2, 1 more genes
    nsv5274194copy number variation1nstd204human GRCh38.p13 chr12: 21,544,560-21,579,317 , GRCh37.p13 chr12: 21,697,494-21,732,251 GYS2
    nsv5272060copy number variation1nstd204human GRCh38.p13 chr12: 21,518,101-21,587,000 , GRCh37.p13 chr12: 21,671,035-21,739,934 SPX, GOLT1B, 1 more genes
    nsv5266555copy number variation1nstd204human GRCh38.p13 chr12: 21,578,818-21,579,817 , GRCh37.p13 chr12: 21,731,752-21,732,751 GYS2
    nsv5262165copy number variation1nstd204human GRCh38.p13 chr12: 21,570,801-21,574,400 , GRCh37.p13 chr12: 21,723,735-21,727,334 GYS2
    nsv5260699copy number variation1nstd204human GRCh38.p13 chr12: 21,558,301-21,564,100 , GRCh37.p13 chr12: 21,711,235-21,717,034 GYS2
    nsv5194463mobile element insertion1nstd203human GRCh38 chr12: 21,552,730-21,552,747 , GRCh37.p13 chr12: 21,705,664-21,705,681 GYS2
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