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Items: 1 to 20 of 40289

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6137727copy number variation2nstd102humanUncertain significance GRCh38 chr3: 12,589,035-12,766,981 , GRCh37.p13 chr3: 12,630,534-12,808,480 RAF1, CRIP1P1, 1 more genes
    nsv6137718copy number variation1nstd102humanBenign GRCh38 chr12: 20,679,864-20,679,919 , GRCh37 chr12: 20,832,798-20,832,853 PDE3A, SLCO1C1
    nsv6137707copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,565,626-30,221,925 , GRCh38.p12 chr16: 29,554,305-30,210,604 TAOK2, SLC7A5P1, 44 more genes
    nsv6137672copy number variation1nstd102humannot provided GRCh38 chr2: 124,348,648-129,410,245 , GRCh37.p13 chr2: 125,106,225-130,167,818 LOC105373603, MYO7B, 59 more genes
    nsv6137666copy number variation1nstd102humanPathogenic GRCh37 chrX: 91,829,757-113,050,225 , GRCh38.p12 chrX: 92,574,758-113,806,943 TCEAL8, MTND5P26, 272 more genes
    nsv6131680insertion1nstd186human GRCh37 chr16: 2,102,234-2,102,266 , GRCh38.p12 chr16: 2,052,233-2,052,265 TSC2
    nsv6131433insertion1nstd186human GRCh37 chr19: 7,131,019-7,131,019 , GRCh38.p12 chr19: 7,131,008-7,131,008 INSR
    nsv6131225insertion1nstd186human GRCh37 chr17: 61,731,675-61,731,675 , GRCh38.p12 chr17: 63,654,315-63,654,315 MAP3K3
    nsv6130356insertion1nstd186human GRCh37 chr19: 40,734,606-40,734,638 , GRCh38.p12 chr19: 40,228,699-40,228,731 AKT2
    nsv6130058insertion1nstd186human GRCh37 chr19: 7,153,378-7,153,378 , GRCh38.p12 chr19: 7,153,367-7,153,367 INSR
    nsv6129932insertion1nstd186human GRCh37 chr17: 43,339,871-43,339,878 , GRCh38.p12 chr17: 45,262,504-45,262,511 MAP3K14, SPATA32, 1 more genes
    nsv6129890insertion1nstd186human GRCh37 chr17: 17,719,514-17,719,554 , GRCh38.p12 chr17: 17,816,200-17,816,240 SREBF1
    nsv6129526insertion1nstd186human GRCh37 chr17: 67,487,296-67,487,311 , GRCh38.p12 chr17: 69,491,155-69,491,170 MAP2K6
    nsv6129236insertion1nstd186human GRCh37 chr17: 78,660,160-78,660,160 , GRCh38.p12 chr17: 80,686,360-80,686,360 RPTOR
    nsv6128909copy number variation1nstd186human GRCh37 chr17: 61,731,528-61,731,675 , GRCh38.p12 chr17: 63,654,168-63,654,315 MAP3K3
    nsv6128755copy number variation1nstd186human GRCh37 chr18: 48,167,690-48,167,776 , GRCh38.p12 chr18: 50,641,320-50,641,406 MAPK4
    nsv6128687copy number variation1nstd186human GRCh37 chr17: 78,694,569-78,698,499 , GRCh38.p12 chr17: 80,720,769-80,724,699 , RPTOR
    nsv6128417copy number variation1nstd186human GRCh37 chr19: 422,845-423,587 , GRCh38.p12 chr19: 422,845-423,587 SHC2
    nsv6128065copy number variation1nstd186human GRCh37 chr17: 78,721,796-78,722,281 , GRCh38.p12 chr17: 80,747,996-80,748,481 RPTOR
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