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Items: 1 to 20 of 245

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7144091insertion1nstd232human GRCh37.p13 chr12: 110,780,253-110,780,253 , GRCh38.p12 chr12: 110,342,448-110,342,448 ATP2A2
    nsv7143653insertion1nstd232human GRCh37.p13 chr12: 110,734,545-110,734,545 , GRCh38.p12 chr12: 110,296,740-110,296,740 ATP2A2
    nsv7141327copy number variation1nstd232human GRCh37.p13 chr12: 110,783,923-110,784,004 , GRCh38.p12 chr12: 110,346,118-110,346,199 ATP2A2
    nsv7141145copy number variation1nstd232human GRCh37.p13 chr12: 110,777,206-110,777,304 , GRCh38.p12 chr12: 110,339,401-110,339,499 ATP2A2
    nsv7139783insertion1nstd232human GRCh37.p13 chr12: 110,781,241-110,781,241 , GRCh38.p12 chr12: 110,343,436-110,343,436 ATP2A2
    nsv7138884insertion1nstd232human GRCh37.p13 chr12: 110,765,821-110,765,821 , GRCh38.p12 chr12: 110,328,016-110,328,016 ATP2A2
    nsv7094122copy number variation1nstd102humanPathogenic GRCh37 chr12: 110,729,805-110,729,949 , GRCh38.p12 chr12: 110,292,000-110,292,144 ATP2A2
    nsv7094025copy number variation1nstd102humanPathogenic GRCh37 chr12: 110,646,956-110,765,842 , GRCh38.p12 chr12: 110,209,151-110,328,037 IFT81, ATP2A2
    nsv6935937copy number variation1nstd229human GRCh38 chr12: 110,299,513-110,307,244 , GRCh37.p13 chr12: 110,737,318-110,745,049 ATP2A2
    nsv6935620copy number variation1nstd229human GRCh38 chr12: 110,306,607-110,312,365 , GRCh37.p13 chr12: 110,744,412-110,750,170 ATP2A2
    nsv6934327copy number variation1nstd229human GRCh38 chr12: 110,335,201-110,337,400 , GRCh37.p13 chr12: 110,773,006-110,775,205 ATP2A2
    nsv6934266copy number variation1nstd229human GRCh38 chr12: 110,341,477-110,383,265 , GRCh37.p13 chr12: 110,779,282-110,821,070 ANAPC7, ATP2A2, 1 more genes
    nsv6931732copy number variation1nstd229human GRCh38 chr12: 108,914,683-113,697,537 , GRCh37.p13 chr12: 109,308,459-114,135,342 PTPN11, RPL31P49, 111 more genes
    nsv6931726copy number variation1nstd229human GRCh38 chr12: 110,279,121-110,280,435 , GRCh37.p13 chr12: 110,716,926-110,718,240 ATP2A2
    nsv6929319copy number variation1nstd229human GRCh38 chr12: 110,346,321-110,350,290 , GRCh37.p13 chr12: 110,784,126-110,788,095 ATP2A2
    nsv6929264copy number variation1nstd229human GRCh38 chr12: 110,335,048-110,335,360 , GRCh37.p13 chr12: 110,772,853-110,773,165 ATP2A2
    nsv6927451copy number variation1nstd229human GRCh38 chr12: 110,313,587-110,319,120 , GRCh37.p13 chr12: 110,751,392-110,756,925 ATP2A2
    nsv6922231copy number variation1nstd229human GRCh38 chr12: 110,294,303-110,294,692 , GRCh37.p13 chr12: 110,732,108-110,732,497 ATP2A2
    nsv6920315copy number variation1nstd229human GRCh38 chr12: 110,346,201-110,395,600 , GRCh37.p13 chr12: 110,784,006-110,833,405 ATP2A2, ANAPC7, 1 more genes
    nsv6591742inversion1nstd223human GRCh38 chr12: 110,297,308-110,297,631 , GRCh37.p13 chr12: 110,735,113-110,735,436 ATP2A2
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