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  • The following term was not found in dbVar: graeca.
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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4683823copy number variation1nstd102humanPathogenic GRCh37 chrX: 149,751,687-149,817,005 , GRCh38.p12 chrX: 150,583,227-150,648,532 MTM1
    nsv4683464copy number variation1nstd102humanPathogenic GRCh37 chr22: 20,029,700-20,062,756 , GRCh38.p12 chr22: 20,042,177-20,075,233 TANGO2
    nsv4683467copy number variation1nstd102humanPathogenic GRCh37 chr21: 36,163,689-36,176,362 , GRCh38.p12 chr21: 34,791,392-34,804,065 RUNX1
    nsv4683793copy number variation2nstd102humanPathogenic GRCh37 chr5: 138,525,416-138,537,243 , GRCh38.p12 chr5: 139,189,727-139,201,554 SIL1
    nsv5060006copy number variation1nstd102humanPathogenic GRCh37 chr2: 203,234,119-203,242,446 , GRCh38 chr2: 202,369,396-202,377,723 BMPR2
    nsv5673363copy number variation1nstd102humanPathogenic GRCh38 chr2: 202,373,246-202,381,016 , GRCh37 chr2: 203,237,969-203,245,739 BMPR2
    nsv5673443copy number variation1nstd102humanPathogenic GRCh37 chr2: 203,325,958-203,332,529 , GRCh38 chr2: 202,461,235-202,467,806 BMPR2
    nsv5380965copy number variation2nstd102humanPathogenic GRCh37 chr13: 103,298,090-103,302,491 , GRCh38 chr13: 102,645,740-102,650,141 TPP2
    nsv4674649copy number variation1nstd102humanPathogenic GRCh37 chr7: 87,042,588-87,043,916 , GRCh38 chr7: 87,413,272-87,414,600 ABCB4
    nsv4682623copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 203,387,039-203,444,732 , GRCh38.p12 chr2: 202,522,316-202,580,009 BMPR2
    nsv4683087copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 41,365,759-41,401,503 , GRCh38.p12 chrX: 41,506,506-41,542,250 CASK
    nsv4682457copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 203,226,401-203,255,921 , GRCh38.p12 chr2: 202,361,678-202,391,198 BMPR2
    nsv4683750copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 203,223,399-203,248,060 , GRCh38.p12 chr2: 202,358,676-202,383,337 BMPR2
    nsv4681774copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 203,238,715-203,257,663 , GRCh38.p12 chr2: 202,373,992-202,392,940 BMPR2
    nsv4681889copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 203,387,503-203,403,415 , GRCh38.p12 chr2: 202,522,780-202,538,692 BMPR2
    nsv4682793copy number variation1nstd102humanLikely pathogenic GRCh37 chr19: 36,314,901-36,329,450 , GRCh38.p12 chr19: 35,823,999-35,838,548 NPHS1
    nsv4674526copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 203,422,331-203,434,823 , GRCh38.p12 chr2: 202,557,608-202,570,100 BMPR2
    nsv4674595copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 203,422,386-203,434,797 , GRCh38.p12 chr2: 202,557,663-202,570,074 BMPR2
    nsv4681705copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 203,403,129-203,415,088 , GRCh38.p12 chr2: 202,538,406-202,550,365 BMPR2
    nsv5673952copy number variation2nstd102humanLikely pathogenic GRCh37 chr9: 77,388,716-77,398,575 , GRCh38 chr9: 74,773,800-74,783,659 TRPM6
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