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Items: 1 to 20 of 304

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137386insertion1nstd232human GRCh37.p13 chr2: 166,623,171-166,623,171 , GRCh38.p12 chr2: 165,766,661-165,766,661 GALNT3
    nsv7096577copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 166,605,291-166,611,593 , GRCh38.p12 chr2: 165,748,781-165,755,083 GALNT3
    nsv7096574copy number variation1nstd102humanPathogenic GRCh37 chr2: 165,946,660-167,108,415 , GRCh38.p12 chr2: 165,090,150-166,251,905 SCN3A, MAPRE1P3, 11 more genes
    nsv7096378copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,605,291-166,868,812 , GRCh38.p12 chr2: 165,748,781-166,012,302 GALNT3, SCN1A, 4 more genes
    nsv7096373copy number variation1nstd102humanUncertain significance GRCh37 chr2: 165,946,660-166,894,662 , GRCh38.p12 chr2: 165,090,150-166,038,152 TTC21B, SCN3A, 8 more genes
    nsv6696473copy number variation1nstd229human GRCh38 chr2: 165,580,708-165,755,471 , GRCh37.p13 chr2: 166,437,218-166,611,981 CSRNP3, GALNT3
    nsv6693418copy number variation1nstd229human GRCh38 chr2: 165,748,671-165,749,048 , GRCh37.p13 chr2: 166,605,181-166,605,558 GALNT3
    nsv6692147copy number variation1nstd229human GRCh38 chr2: 165,795,322-165,815,057 , GRCh37.p13 chr2: 166,651,832-166,671,567 GALNT3
    nsv6689235copy number variation1nstd229human GRCh38 chr2: 165,780,622-165,783,379 , GRCh37.p13 chr2: 166,637,132-166,639,889 GALNT3
    nsv6688945copy number variation1nstd229human GRCh38 chr2: 165,794,863-165,802,635 , GRCh37.p13 chr2: 166,651,373-166,659,145 GALNT3
    nsv6681734copy number variation1nstd229human GRCh38 chr2: 165,786,099-165,789,594 , GRCh37.p13 chr2: 166,642,609-166,646,104 GALNT3
    nsv6680732copy number variation1nstd229human GRCh38 chr2: 165,784,282-165,905,812 , GRCh37.p13 chr2: 166,640,792-166,762,322 GALNT3, LOC100506124, 1 more genes
    nsv6680640copy number variation1nstd229human GRCh38 chr2: 165,759,062-165,759,179 , GRCh37.p13 chr2: 166,615,572-166,615,689 GALNT3
    nsv6680260copy number variation1nstd229human GRCh38 chr2: 165,790,992-165,791,530 , GRCh37.p13 chr2: 166,647,502-166,648,040 GALNT3
    nsv6545477inversion1nstd223human GRCh38 chr2: 165,768,993-165,769,140 , GRCh37.p13 chr2: 166,625,503-166,625,650 GALNT3
    nsv6349414copy number variation1nstd223human GRCh38 chr2: 165,783,016-165,783,141 , GRCh37.p13 chr2: 166,639,526-166,639,651 GALNT3
    nsv6345343copy number variation1nstd223human GRCh38 chr2: 165,780,622-165,783,379 , GRCh37.p13 chr2: 166,637,132-166,639,889 GALNT3
    nsv6315583copy number variation1nstd102humanPathogenic GRCh38 chr2: 165,047,221-166,068,633 , GRCh37.p13 chr2: 165,903,731-166,925,143 TTC21B-AS1, TTC21B, 8 more genes
    nsv6315581copy number variation1nstd102humanPathogenic GRCh38 chr2: 165,284,919-167,536,383 , GRCh37.p13 chr2: 166,141,429-168,392,893 XIRP2-AS1, TTC21B-AS1, 15 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
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