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Items: 1 to 20 of 220

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096672copy number variation1nstd102humanUncertain significance GRCh37 chr2: 61,258,534-61,275,905 , GRCh38.p12 chr2: 61,031,399-61,048,770 PEX13
    nsv7096671copy number variation2nstd102humanUncertain significance, Pathogenic GRCh38.p12 chr2: 60,881,841-61,048,770 , GRCh37 chr2: 61,108,976-61,275,905 PEX13, REL, 5 more genes
    nsv7096518copy number variation2nstd102humanUncertain significance GRCh37 chr2: 61,272,841-61,275,905 , GRCh38.p12 chr2: 61,045,706-61,048,770 PEX13
    nsv7055246inversion1nstd229human GRCh38 chr2: 61,001,694-61,022,885 , GRCh37.p13 chr2: 61,228,829-61,250,020 PEX13, PUS10
    nsv7044192inversion1nstd229human GRCh38 chr2: 57,467,952-62,408,360 , GRCh37.p13 chr2: 57,695,087-62,635,495 RNA5SP94, PUS10, 62 more genes
    nsv6677687copy number variation1nstd229human GRCh38 chr2: 61,007,199-61,246,105 , GRCh37.p13 chr2: 61,234,334-61,473,240 LOC105374759, PEX13, 7 more genes
    nsv6676822copy number variation1nstd229human GRCh38 chr2: 61,014,343-61,039,101 , GRCh37.p13 chr2: 61,241,478-61,266,236 PEX13, PUS10
    nsv6674612copy number variation1nstd229human GRCh38 chr2: 61,050,558-61,225,465 , GRCh37.p13 chr2: 61,277,693-61,452,600 PEX13, C2orf74-DT, 6 more genes
    nsv6673872copy number variation1nstd229human GRCh38 chr2: 61,047,063-61,050,181 , GRCh37.p13 chr2: 61,274,198-61,277,316 PEX13
    nsv6670707copy number variation1nstd229human GRCh38 chr2: 61,041,299-61,091,766 , GRCh37.p13 chr2: 61,268,434-61,318,901 SANBR, PEX13
    nsv6668077copy number variation1nstd229human GRCh38 chr2: 61,004,419-61,017,830 , GRCh37.p13 chr2: 61,231,554-61,244,965 PEX13, PUS10
    nsv6666412copy number variation1nstd229human GRCh38 chr2: 61,022,960-61,023,031 , GRCh37.p13 chr2: 61,250,095-61,250,166 PEX13
    nsv6666093copy number variation1nstd229human GRCh38 chr2: 61,005,072-61,020,072 , GRCh37.p13 chr2: 61,232,207-61,247,207 PEX13, PUS10
    nsv6662561copy number variation1nstd229human GRCh38 chr2: 61,007,501-61,201,500 , GRCh37.p13 chr2: 61,234,636-61,428,635 LOC105374759, PEX13, 7 more genes
    nsv6636424copy number variation1nstd102humanPathogenic GRCh37 chr2: 61,215,497-61,714,418 , GRCh38.p12 chr2: 60,988,362-61,487,283 PUS10, LOC105374759, 11 more genes
    nsv6636380copy number variation1nstd102humanUncertain significance GRCh37 chr2: 61,238,958-61,414,470 , GRCh38.p12 chr2: 61,011,823-61,187,335 USP34, AHSA2P, 7 more genes
    nsv6636194copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 60,680,467-61,527,143 , GRCh38.p12 chr2: 60,453,332-61,300,008 ATP1B3P1, PEX13, 22 more genes
    nsv6635059copy number variation1nstd227human GRCh38.p12 chr2: 60,885,417-61,121,669 , GRCh37 chr2: 61,112,552-61,348,804 PEX13, REL, 6 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6634319copy number variation1nstd102humanPathogenic GRCh38 chr2: 60,947,640-61,094,952 , GRCh37.p13 chr2: 61,174,775-61,322,087 RNA5SP95, PUS10, 2 more genes
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