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Items: 1 to 20 of 162

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6112680copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 24,881,528-43,460,021 , GRCh38.p12 chr2: 24,658,659-43,232,882 ADCY3, ALK, 314 more genes
    nsv5868983copy number variation1nstd209human GRCh38 chr2: 26,975,632-26,975,858 , GRCh37.p13 chr2: 27,198,500-27,198,726 MAPRE3
    nsv5616377insertion1nstd207human GRCh38 chr2: 26,968,726-26,968,726 , GRCh37.p13 chr2: 27,191,594-27,191,594 MAPRE3
    nsv5616198insertion1nstd207human GRCh38 chr2: 26,975,632-26,975,632 , GRCh37.p13 chr2: 27,198,500-27,198,500 MAPRE3
    nsv5442610copy number variation1nstd206human GRCh38 chr2: 26,989,926-26,991,028 , GRCh37.p13 chr2: 27,212,794-27,213,896 MAPRE3, MAPRE3-AS1
    nsv5442213copy number variation1nstd206human GRCh38 chr2: 27,002,253-27,003,507 , GRCh37.p13 chr2: 27,225,121-27,226,375 MAPRE3-AS1, MAPRE3
    nsv5440048copy number variation1nstd206human GRCh38 chr2: 27,019,114-27,019,793 , GRCh37.p13 chr2: 27,241,982-27,242,661 MAPRE3
    nsv5384362copy number variation1nstd186human GRCh37 chr2: 27,198,500-27,198,730 , GRCh38.p12 chr2: 26,975,632-26,975,862 MAPRE3
    nsv5358719translocation1nstd200human GRCh38 chr2: 27,019,156-27,019,156 , GRCh38 chr2: 27,019,753-27,019,753 , GRCh37.p13 chr2: 27,242,024-27,242,024 , GRCh37.p13 chr2: 27,242,621-27,242,621 MAPRE3
    nsv5345660translocation1nstd200human GRCh37 chr2: 27,244,185-27,244,185 , GRCh37 chr2: 27,244,351-27,244,351 , GRCh38.p12 chr2: 27,021,483-27,021,483 , GRCh38.p12 chr2: 27,021,317-27,021,317 MAPRE3
    nsv5282222copy number variation1nstd204human GRCh38.p13 chr2: 26,975,602-26,975,891 , GRCh37.p13 chr2: 27,198,470-27,198,759 MAPRE3
    nsv5218978copy number variation1nstd204human GRCh38.p13 chr2: 26,971,935-26,973,978 , GRCh37.p13 chr2: 27,194,803-27,196,846 MAPRE3
    nsv5190532mobile element insertion1nstd203human GRCh38 chr2: 27,007,695-27,007,710 , GRCh37.p13 chr2: 27,230,563-27,230,578 MAPRE3, MAPRE3-AS1
    nsv4900782copy number variation1nstd200human GRCh38 chr2: 27,021,317-27,021,483 , GRCh37.p13 chr2: 27,244,185-27,244,351 MAPRE3
    nsv4788336copy number variation1nstd200human GRCh37 chr2: 27,198,500-27,198,730 , GRCh38.p12 chr2: 26,975,632-26,975,862 MAPRE3
    nsv4775869copy number variation1nstd200human GRCh37 chr2: 27,242,024-27,242,621 , GRCh38.p12 chr2: 27,019,156-27,019,753 MAPRE3
    nsv4760779insertion1nstd199human GRCh37 chr2: 27,196,486-27,196,486 , GRCh38.p12 chr2: 26,973,618-26,973,618 MAPRE3
    nsv4567875mobile element insertion1nstd166human GRCh37.p13 chr2: 27,226,119-27,226,119 , GRCh38.p12 chr2: 27,003,251-27,003,251 MAPRE3-AS1, MAPRE3
    nsv4534222insertion1nstd166human GRCh37.p13 chr2: 27,223,357-27,223,357 , GRCh38.p12 chr2: 27,000,489-27,000,489 MAPRE3-AS1, MAPRE3
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