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Items: 1 to 20 of 467

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148250copy number variation1nstd102humanPathogenic GRCh38 chr2: 171,833,866-171,844,606 , GRCh37.p13 chr2: 172,690,376-172,701,116 SLC25A12
    nsv7096587copy number variation1nstd102humanUncertain significance GRCh37 chr2: 172,749,695-172,750,724 , GRCh38.p12 chr2: 171,893,185-171,894,214 SLC25A12
    nsv7096586copy number variation1nstd102humanUncertain significance GRCh37 chr2: 171,675,102-174,232,392 , GRCh38.p12 chr2: 170,818,592-173,367,664 RNU6-182P, DCAF17, 36 more genes
    nsv7096214copy number variation1nstd102humanPathogenic GRCh37 chr2: 172,725,171-172,725,353 , GRCh38.p12 chr2: 171,868,661-171,868,843 SLC25A12
    nsv7096213copy number variation1nstd102humanUncertain significance GRCh37 chr2: 172,669,829-172,750,724 , GRCh38.p12 chr2: 171,813,319-171,894,214 SLC25A12, RNU6-182P
    nsv7096212copy number variation1nstd102humanUncertain significance GRCh37 chr2: 172,641,784-172,712,479 , GRCh38.p12 chr2: 171,785,274-171,855,969 RNU6-182P, SLC25A12
    nsv7055042inversion1nstd229human GRCh38 chr2: 171,831,855-171,874,622 , GRCh37.p13 chr2: 172,688,365-172,731,132 SLC25A12, RNU6-182P
    nsv7054135inversion1nstd229human GRCh38 chr2: 171,863,602-171,865,587 , GRCh37.p13 chr2: 172,720,112-172,722,097 SLC25A12
    nsv7049228inversion1nstd229human GRCh38 chr2: 171,792,802-171,879,222 , GRCh37.p13 chr2: 172,649,312-172,735,732 SLC25A12, RNU6-182P
    nsv7041262inversion1nstd229human GRCh38 chr2: 171,864,093-171,869,140 , GRCh37.p13 chr2: 172,720,603-172,725,650 SLC25A12
    nsv7040676inversion1nstd229human GRCh38 chr2: 171,781,369-171,781,408 , GRCh37.p13 chr2: 172,637,879-172,637,918 SLC25A12
    nsv6695993copy number variation1nstd229human GRCh38 chr2: 171,800,316-171,806,153 , GRCh37.p13 chr2: 172,656,826-172,662,663 SLC25A12
    nsv6694924copy number variation1nstd229human GRCh38 chr2: 171,889,601-171,898,700 , GRCh37.p13 chr2: 172,746,111-172,755,210 SLC25A12
    nsv6690526copy number variation1nstd229human GRCh38 chr2: 171,776,701-171,784,445 , GRCh37.p13 chr2: 172,633,211-172,640,955 SLC25A12
    nsv6690239copy number variation1nstd229human GRCh38 chr2: 171,842,878-171,843,808 , GRCh37.p13 chr2: 172,699,388-172,700,318 SLC25A12
    nsv6689831copy number variation1nstd229human GRCh38 chr2: 171,876,232-171,880,481 , GRCh37.p13 chr2: 172,732,742-172,736,991 SLC25A12
    nsv6688451copy number variation1nstd229human GRCh38 chr2: 171,831,359-171,833,297 , GRCh37.p13 chr2: 172,687,869-172,689,807 SLC25A12
    nsv6684237copy number variation1nstd229human GRCh38 chr2: 171,827,975-171,830,667 , GRCh37.p13 chr2: 172,684,485-172,687,177 SLC25A12
    nsv6681227copy number variation1nstd229human GRCh38 chr2: 171,704,073-171,935,612 , GRCh37.p13 chr2: 172,560,583-172,792,124 LOC105373740, SLC25A12, 4 more genes
    nsv6681137copy number variation1nstd229human GRCh38 chr2: 171,875,230-171,889,595 , GRCh37.p13 chr2: 172,731,740-172,746,105 SLC25A12
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