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Items: 1 to 20 of 155

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7143836copy number variation1nstd232human GRCh37.p13 chr12: 48,535,608-48,535,693 , GRCh38.p12 chr12: 48,141,825-48,141,910 PFKM
    nsv7138821copy number variation1nstd232human GRCh37.p13 chr12: 48,538,912-48,538,990 , GRCh38.p12 chr12: 48,145,129-48,145,207 PFKM
    nsv7074786inversion1nstd229human GRCh38 chr12: 47,059,202-48,408,098 , GRCh37.p13 chr12: 47,452,985-48,801,881 LOC102725258, RPAP3, 42 more genes
    nsv6918615copy number variation1nstd229human GRCh38 chr12: 47,957,960-48,181,643 , GRCh37.p13 chr12: 48,351,743-48,575,426 PHB1P18, SENP1, 12 more genes
    nsv6637635copy number variation1nstd102humanUncertain significance GRCh37 chr12: 48,380,031-48,542,853 , GRCh38.p12 chr12: 47,986,248-48,149,070 LOC105369750, MIR6505, 7 more genes
    nsv6634445copy number variation1nstd102humanPathogenic GRCh37 chr12: 44,661,149-48,921,204 , GRCh38.p12 chr12: 44,267,366-48,527,421 ZNF641, MIR4698, 77 more genes
    nsv6464348copy number variation1nstd223human GRCh38 chr12: 48,102,601-48,104,200 , GRCh37.p13 chr12: 48,496,384-48,497,983 SENP1, PFKM
    nsv6241007mobile element insertion1nstd215human GRCh38 chr12: 48,122,964-48,122,964 , GRCh37.p13 chr12: 48,516,747-48,516,747 PFKM
    nsv6143973copy number variation1nstd206human GRCh38 chr12: 47,992,120-48,108,479 , GRCh37.p13 chr12: 48,385,903-48,502,262 COL2A1, PFKM, 5 more genes
    nsv6132248copy number variation1nstd213human GRCh37 chr12: 45,960,000-49,240,001 , GRCh38.p12 chr12: 45,566,217-48,846,218 LALBA, VDR, 83 more genes
    nsv5932884copy number variation1nstd209human GRCh38 chr12: 48,105,909-48,119,824 , GRCh37.p13 chr12: 48,499,692-48,513,607 PFKM, SENP1
    nsv5853442copy number variation1nstd209human GRCh38 chr12: 48,116,035-48,119,842 , GRCh37.p13 chr12: 48,509,818-48,513,625 PFKM
    nsv5564512copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 37,873,948-49,578,619 , GRCh38.p12 chr12: 37,480,146-49,184,836 ADCY6, ABCD2, 187 more genes
    nsv5512307copy number variation1nstd206human GRCh38 chr12: 48,143,071-48,364,591 , GRCh37.p13 chr12: 48,536,854-48,758,374 LOC100533659, PHB1P18, 10 more genes
    nsv5380901copy number variation1nstd102humanUncertain significance GRCh37 chr12: 48,240,430-48,539,491 , GRCh38.p12 chr12: 47,846,647-48,145,708 LOC105369750, SENP1, 9 more genes
    nsv5199602mobile element insertion1nstd203human GRCh38 chr12: 48,118,424-48,118,424 , GRCh37.p13 chr12: 48,512,207-48,512,207 PFKM
    nsv5125081mobile element insertion1nstd203human GRCh38 chr12: 48,135,912-48,135,928 , GRCh37.p13 chr12: 48,529,695-48,529,711 PFKM
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv5029954inversion1nstd200human GRCh38 chr12: 38,328,571-48,487,625 , GRCh37.p13 chr12: 38,722,373-48,881,408 , MESDP1, 138 more genes
    nsv4972511copy number variation1nstd200human GRCh38 chr12: 48,115,494-48,117,916 , GRCh37.p13 chr12: 48,509,277-48,511,699 PFKM
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