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Items: 1 to 20 of 632

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3910865copy number variation1nstd102humanUncertain significance NCBI36 chr13: 53,821,393-53,965,489 , GRCh37.p13 chr13: 54,923,392-55,067,488 , GRCh38.p12 chr13: 54,349,257-54,493,353 RPL13AP25
    nsv3875358copy number variation1nstd102humanPathogenic GRCh38 chr2: 202,376,935-202,559,947 , GRCh37 chr2: 203,241,658-203,424,670 RPL13AP12, BMPR2
    nsv3885961copy number variation1nstd102humanPathogenic GRCh37 chr2: 203,242,197-203,424,670 , GRCh38 chr2: 202,377,474-202,559,947 BMPR2, RPL13AP12
    nsv3888139copy number variation1nstd102humanPathogenic GRCh37 chr2: 203,242,274-203,424,670 , GRCh38 chr2: 202,377,551-202,559,947 RPL13AP12, BMPR2
    nsv3878590copy number variation1nstd102humanPathogenic GRCh38 chr2: 202,377,474-202,532,584 , GRCh37 chr2: 203,242,197-203,397,307 BMPR2, RPL13AP12
    nsv3880974copy number variation1nstd102humanPathogenic GRCh38 chr2: 202,377,525-202,519,014 , GRCh37 chr2: 203,242,248-203,383,737 RPL13AP12, BMPR2
    nsv3883589copy number variation1nstd102humanPathogenic GRCh37 chr2: 203,332,413-203,424,670 , GRCh38 chr2: 202,467,690-202,559,947 RPL13AP12, BMPR2
    nsv7096125copy number variation1nstd102humanPathogenic GRCh37 chr2: 203,384,790-203,421,274 , GRCh38.p12 chr2: 202,520,067-202,556,551 RPL13AP12, BMPR2
    nsv3881600copy number variation2nstd102humanPathogenic GRCh37 chr2: 203,378,422-203,407,190 , GRCh38 chr2: 202,513,699-202,542,467 BMPR2, RPL13AP12
    nsv4451857copy number variation2nstd102humanPathogenic GRCh37 chr2: 203,378,422-203,395,697 , GRCh38 chr2: 202,513,699-202,530,974 BMPR2, RPL13AP12
    nsv7096227copy number variation1nstd102humanPathogenic GRCh37 chr2: 203,378,422-203,384,944 , GRCh38.p12 chr2: 202,513,699-202,520,221 RPL13AP12, BMPR2
    nsv4452269copy number variation2nstd102humanPathogenic GRCh37 chr2: 203,378,432-203,384,934 , GRCh38 chr2: 202,513,709-202,520,211 RPL13AP12, BMPR2
    nsv997218copy number variation1nstd45humanPathogenic GRCh38.p12 chr2: 202,376,327-202,567,751 , GRCh37 chr2: 203,241,050-203,432,474 BMPR2, RPL13AP12
    nsv4683587copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 203,342,249-203,422,058 , GRCh38.p12 chr2: 202,477,526-202,557,335 BMPR2, RPL13AP12
    nsv4682577copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 203,339,329-203,392,988 , GRCh38.p12 chr2: 202,474,606-202,528,265 BMPR2, RPL13AP12
    nsv5673444copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 203,380,130-203,388,919 , GRCh38 chr2: 202,515,407-202,524,196 BMPR2, RPL13AP12
    nsv4674191copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 203,384,088-203,387,879 , GRCh38 chr2: 202,519,365-202,523,156 BMPR2, RPL13AP12
    nsv7097756copy number variation1nstd102humanUncertain significance GRCh37 chr7: 77,648,632-77,998,550 , GRCh38.p12 chr7: 78,019,315-78,369,233 MAGI2, RPL13AP17
    nsv3914566copy number variation1nstd102humanUncertain significance NCBI36 chr13: 53,780,979-54,052,007 , GRCh37.p13 chr13: 54,882,978-55,154,006 , GRCh38.p12 chr13: 54,308,843-54,579,871 RPL13AP25, MIR1297
    nsv7096602copy number variation1nstd102humanUncertain significance GRCh37 chr2: 203,242,198-203,424,669 , GRCh38.p12 chr2: 202,377,475-202,559,946 BMPR2, RPL13AP12
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