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Items: 1 to 20 of 38

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7094142copy number variation1nstd102humanUncertain significance GRCh37 chr12: 32,892,978-32,908,808 , GRCh38.p12 chr12: 32,740,044-32,755,874 YARS2, DNM1L
    nsv3898578copy number variation1nstd102humanUncertain significance GRCh37 chr12: 32,896,340-32,906,926 , GRCh38.p12 chr12: 32,743,406-32,753,992 YARS2, DNM1L
    nsv3922423copy number variation1nstd102humanPathogenic NCBI36 chr12: 32,776,056-32,926,058 , GRCh37 chr12: 32,884,789-33,034,791 , GRCh38 chr12: 32,731,855-32,881,857 YARS2, PKP2, 2 more genes
    nsv4729009copy number variation1nstd102humanUncertain significance GRCh37 chr12: 32,874,959-33,060,511 , GRCh38.p12 chr12: 32,722,025-32,907,577 YARS2, PKP2, 3 more genes
    nsv7094212copy number variation1nstd102humanUncertain significance GRCh37 chr12: 32,832,298-32,896,344 , GRCh38.p12 chr12: 32,679,364-32,743,410 YARS2, LOC100420981, 1 more genes
    nsv6309315copy number variation3nstd102humanPathogenic, Uncertain significance GRCh37 chr12: 32,729,292-33,049,665 , GRCh38.p12 chr12: 32,576,358-32,896,731 YARS2, PKP2, 4 more genes
    nsv3912952copy number variation1nstd102humanPathogenic NCBI36 chr12: 25,308,034-34,108,730 , GRCh38 chr12: 25,263,833-34,064,528 , GRCh37 chr12: 25,416,767-34,217,463 YARS2, LOC101060058, 125 more genes
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 YARS2, RNA5SP369, 2454 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 YARS2, LOH12CR2, 2452 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 YARS2, RNU4ATAC16P, 2452 more genes
    nsv3914194copy number variation1nstd102humanPathogenic NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807 YARS2, BTG1P1, 2451 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 YARS2, OR5BT1P, 2441 more genes
    nsv3914427copy number variation1nstd102humanPathogenic NCBI36 chr12: 18,636-36,150,744 , GRCh37.p13 chr12: 148,375-37,864,477 , GRCh38.p12 chr12: 43,334-37,470,675 YARS2, LOC105369667, 684 more genes
    nsv3905633copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,786-37,869,301 , GRCh38.p12 chr12: 64,620-37,475,499 YARS2, RESF1, 684 more genes
    nsv3897151copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,786-37,869,107 , GRCh38.p12 chr12: 64,620-37,475,305 YARS2, CACNA2D4, 684 more genes
    nsv4674941copy number variation1nstd102humanPathogenic GRCh37 chr12: 274,676-37,869,301 , GRCh38.p12 chr12: 165,510-37,475,499 YARS2, LOC105376675, 682 more genes
    nsv3924262copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,786-34,835,837 , GRCh38 chr12: 64,620-34,682,902 , NCBI36 chr12: 44,047-34,727,104 YARS2, ENO2, 684 more genes
    nsv3901714copy number variation3nstd102humanPathogenic GRCh37 chr12: 173,786-34,835,837 , GRCh38.p12 chr12: 64,620-34,682,902 YARS2, LOC105369677, 684 more genes
    nsv3911928copy number variation1nstd102humanPathogenic GRCh37 chr12: 282,465-34,761,006 , GRCh38 chr12: 54,427-34,608,071 , NCBI36 chr12: 33,854-34,652,273 YARS2, IFT57P1, 684 more genes
    nsv3907734copy number variation1nstd102humanPathogenic GRCh37 chr12: 189,578-34,756,150 , GRCh38.p12 chr12: 80,412-34,603,215 YARS2, ACRBP, 684 more genes
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