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Items: 1 to 20 of 326

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7097516copy number variation1nstd102humanPathogenic GRCh37 chr5: 149,294,486-149,294,590 , GRCh38.p12 chr5: 149,914,923-149,915,027 PDE6A
    nsv7097515copy number variation1nstd102humanUncertain significance GRCh37 chr5: 149,278,079-149,280,940 , GRCh38.p12 chr5: 149,898,516-149,901,377 PDE6A
    nsv7097513copy number variation1nstd102humanUncertain significance GRCh37 chr5: 147,774,340-149,681,936 , GRCh38.p12 chr5: 148,394,777-150,302,373 CSNK1A1, SLC26A2, 39 more genes
    nsv7097026copy number variation1nstd102humanPathogenic GRCh37 chr5: 149,262,972-149,276,359 , GRCh38.p12 chr5: 149,883,409-149,896,796 PDE6A
    nsv7097025copy number variation1nstd102humanPathogenic GRCh37 chr5: 149,245,713-149,263,119 , GRCh38.p12 chr5: 149,866,150-149,883,556 PDE6A
    nsv7096759copy number variation1nstd102humanUncertain significance GRCh37 chr5: 149,301,178-149,301,292 , GRCh38.p12 chr5: 149,921,615-149,921,729 PDE6A
    nsv7053998inversion1nstd229human GRCh38 chr5: 148,749,982-154,424,819 , GRCh37.p13 chr5: 148,129,545-153,804,379 HMGXB3, RN7SL868P, 102 more genes
    nsv7053584inversion1nstd229human GRCh38 chr5: 144,534,922-150,861,041 , GRCh37.p13 chr5: 143,914,485-150,240,603 SMIM3, NAMPTP2, 102 more genes
    nsv7045608inversion1nstd229human GRCh38 chr5: 142,902,498-151,105,008 , GRCh37.p13 chr5: 142,282,063-150,484,569 FBXO38-DT, POU4F3, 126 more genes
    nsv7038217inversion1nstd229human GRCh38 chr5: 142,898,166-151,101,968 , GRCh37.p13 chr5: 142,277,731-150,481,529 RPS20P4, PPARGC1B, 126 more genes
    nsv6798035copy number variation1nstd229human GRCh38 chr5: 149,932,242-149,938,781 , GRCh37.p13 chr5: 149,311,805-149,318,344 PDE6A, MFFP2
    nsv6792637copy number variation1nstd229human GRCh38 chr5: 149,871,647-149,876,862 , GRCh37.p13 chr5: 149,251,210-149,256,425 PDE6A
    nsv6790832copy number variation1nstd229human GRCh38 chr5: 149,892,961-149,895,382 , GRCh37.p13 chr5: 149,272,524-149,274,945 PDE6A
    nsv6790669copy number variation1nstd229human GRCh38 chr5: 149,922,397-149,930,021 , GRCh37.p13 chr5: 149,301,960-149,309,584 PDE6A, MFFP2
    nsv6787250copy number variation1nstd229human GRCh38 chr5: 149,924,367-149,929,034 , GRCh37.p13 chr5: 149,303,930-149,308,597 PDE6A
    nsv6787223copy number variation1nstd229human GRCh38 chr5: 149,919,210-149,924,105 , GRCh37.p13 chr5: 149,298,773-149,303,668 PDE6A
    nsv6787017copy number variation1nstd229human GRCh38 chr5: 149,919,201-149,924,100 , GRCh37.p13 chr5: 149,298,764-149,303,663 PDE6A
    nsv6786448copy number variation1nstd229human GRCh38 chr5: 149,879,308-149,881,847 , GRCh37.p13 chr5: 149,258,871-149,261,410 PDE6A
    nsv6785431copy number variation1nstd229human GRCh38 chr5: 149,919,454-149,922,748 , GRCh37.p13 chr5: 149,299,017-149,302,311 PDE6A
    nsv6785376copy number variation1nstd229human GRCh38 chr5: 149,850,618-149,890,636 , GRCh37.p13 chr5: 149,230,181-149,270,199 PPARGC1B, PDE6A
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