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Items: 1 to 20 of 32

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096179copy number variation1nstd102humanPathogenic GRCh37 chr2: 55,894,977-55,913,599 , GRCh38.p12 chr2: 55,667,842-55,686,464 PNPT1
    nsv5381585copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr2: 55,910,900-55,920,958 , GRCh38.p12 chr2: 55,683,765-55,693,823 PNPT1
    nsv7093040copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 55,888,880-55,889,098 , GRCh38 chr2: 55,661,745-55,661,963 PNPT1
    nsv3877985copy number variation1nstd102humanBenign GRCh37 chr2: 55,914,962-55,938,695 , GRCh38.p12 chr2: 55,687,827-55,711,560 PNPT1
    nsv7093360copy number variation1nstd102humanBenign GRCh37 chr2: 55,910,920-55,920,958 , GRCh38.p12 chr2: 55,683,785-55,693,823 PNPT1
    nsv6636092copy number variation1nstd102humanUncertain significance GRCh37 chr2: 55,877,989-55,878,127 , GRCh38 chr2: 55,650,854-55,650,992 PNPT1
    nsv7096178copy number variation1nstd102humanUncertain significance GRCh37 chr2: 55,894,106-55,920,958 , GRCh38.p12 chr2: 55,666,971-55,693,823 PNPT1
    nsv7096177copy number variation1nstd102humanUncertain significance GRCh37 chr2: 55,882,015-55,906,950 , GRCh38.p12 chr2: 55,654,880-55,679,815 PNPT1
    nsv3886894copy number variation1nstd102humanUncertain significance GRCh37 chr2: 55,910,769-55,921,261 , GRCh38.p12 chr2: 55,683,634-55,694,126 PNPT1
    nsv3880839copy number variation1nstd102humanUncertain significance GRCh37 chr2: 55,910,804-55,921,261 , GRCh38.p12 chr2: 55,683,669-55,694,126 PNPT1
    nsv6311596copy number variation1nstd102humanUncertain significance GRCh37 chr2: 55,863,372-55,873,641 , GRCh38.p12 chr2: 55,636,237-55,646,506 PNPT1
    nsv6311422copy number variation1nstd102humanUncertain significance GRCh37 chr2: 55,912,058-55,920,958 , GRCh38.p12 chr2: 55,684,923-55,693,823 PNPT1
    nsv4453724copy number variation1nstd102humanUncertain significance GRCh37 chr2: 55,847,734-55,969,529 , GRCh38.p12 chr2: 55,620,599-55,742,394 PNPT1, PPP4R3B-DT
    nsv6311516copy number variation1nstd102humanPathogenic GRCh37 chr2: 55,863,372-56,149,575 , GRCh38.p12 chr2: 55,636,237-55,922,440 PNPT1, LOC107985811, 2 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 PNPT1, DAZAP2P1, 2991 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 PNPT1, CYP1B1-AS1, 1649 more genes
    nsv3904317copy number variation1nstd102humanPathogenic NCBI36 chr2: 55,651,218-60,600,483 , GRCh38 chr2: 55,570,578-60,519,844 , GRCh37 chr2: 55,797,714-60,746,979 PNPT1, BCL11A, 37 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 PNPT1, LOC112268439, 3737 more genes
    nsv3874648copy number variation1nstd102humanPathogenic GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305 PNPT1, IGKV2OR2-10, 3737 more genes
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 PNPT1, RNU6-674P, 3735 more genes
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