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Items: 1 to 20 of 263

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137793copy number variation1nstd102humanPathogenic GRCh37 chr7: 45,039,923-45,115,656 , GRCh38.p12 chr7: 45,000,324-45,076,057 CCM2, LOC102723334
    nsv6137730copy number variation1nstd102humanLikely pathogenic GRCh37 chr7: 45,103,507-45,115,656 , GRCh38.p12 chr7: 45,063,908-45,076,057 CCM2
    nsv5980445copy number variation1nstd102humanPathogenic GRCh37 chr7: 45,058,501-45,136,990 , GRCh38.p12 chr7: 45,018,902-45,097,391 NACAD, CCM2
    nsv5919052copy number variation1nstd209human GRCh38 chr7: 45,042,462-45,042,548 , GRCh37.p13 chr7: 45,082,061-45,082,147 CCM2
    nsv5917370copy number variation1nstd209human GRCh38 chr7: 45,053,207-45,053,271 , GRCh37.p13 chr7: 45,092,806-45,092,870 CCM2
    nsv5717477mobile element insertion1nstd211human GRCh38 chr7: 45,012,734-45,012,734 , GRCh37.p13 chr7: 45,052,333-45,052,333 CCM2
    nsv5673935copy number variation1nstd102humanPathogenic GRCh37 chr7: 45,067,284-45,115,676 , GRCh38.p12 chr7: 45,027,685-45,076,077 CCM2
    nsv5556950sequence alteration1nstd206human GRCh38 chr7: 44,712,903-47,388,095 , GRCh37.p13 chr7: 44,752,502-47,427,692 , ADCY1, 51 more genes
    nsv5556846sequence alteration1nstd206human GRCh38 chr7: 2,511,247-157,318,976 , GRCh37.p13 chr7: 2,550,881-157,111,670 , AHR, 2675 more genes
    nsv5485551copy number variation1nstd206human GRCh38 chr7: 45,042,463-45,042,549 , GRCh37.p13 chr7: 45,082,062-45,082,148 CCM2
    nsv5477197copy number variation1nstd206human GRCh38 chr7: 45,010,721-45,011,621 , GRCh37.p13 chr7: 45,050,320-45,051,220 CCM2
    nsv5381787copy number variation1nstd102humanPathogenic GRCh37 chr7: 43,341,583-50,171,623 , GRCh38.p12 chr7: 43,301,984-50,132,027 OGDH, LOC112267918, 110 more genes
    nsv5381783copy number variation1nstd102humanPathogenic GRCh37 chr7: 41,124,364-47,945,566 , GRCh38.p12 chr7: 41,084,766-47,905,969 ELK1P1, URGCP, 121 more genes
    nsv5378744translocation1nstd200human GRCh38 chr7: 45,042,463-45,042,463 , GRCh38 chr7: 45,042,549-45,042,549 , GRCh37.p13 chr7: 45,082,062-45,082,062 , GRCh37.p13 chr7: 45,082,148-45,082,148 CCM2
    nsv5330989translocation1nstd200human GRCh37 chr7: 45,092,809-45,092,809 , GRCh37 chr7: 45,092,871-45,092,871 , GRCh38.p12 chr7: 45,053,210-45,053,210 , GRCh38.p12 chr7: 45,053,272-45,053,272 CCM2
    nsv5221233copy number variation1nstd204human GRCh38.p13 chr7: 44,597,101-45,000,100 , GRCh37.p13 chr7: 44,636,700-45,039,699 , PPIA, 14 more genes
    nsv5211357mobile element deletion1nstd204human GRCh38.p13 chr7: 45,008,349-45,008,663 , GRCh37.p13 chr7: 45,047,948-45,048,262 CCM2
    nsv5197570mobile element insertion1nstd203human GRCh38 chr7: 45,013,449-45,013,465 , GRCh37.p13 chr7: 45,053,048-45,053,064 CCM2
    nsv5185792mobile element insertion1nstd203human GRCh38 chr7: 45,014,131-45,014,145 , GRCh37.p13 chr7: 45,053,730-45,053,744 CCM2
    nsv5104484mobile element insertion1nstd203human GRCh38 chr7: 45,023,787-45,023,825 , GRCh37.p13 chr7: 45,063,386-45,063,424 CCM2
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