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Items: 1 to 20 of 229

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112763copy number variation1nstd102humanPathogenic GRCh37 chr12: 189,145-7,730,395 , GRCh38.p12 chr12: 79,979-7,577,799 GALNT8, LINC02371, 197 more genes
    nsv5978991insertion1nstd209human GRCh38 chr12: 4,575,605-4,575,605 , GRCh37.p13 chr12: 4,684,771-4,684,771 DYRK4
    nsv5971837insertion1nstd209human GRCh38 chr12: 4,598,221-4,598,221 , GRCh37.p13 chr12: 4,707,387-4,707,387 DYRK4
    nsv5921920copy number variation1nstd209human GRCh38 chr12: 3,058,695-6,171,259 , GRCh37.p13 chr12: 3,167,861-6,280,425 , LOC105369623, 54 more genes
    nsv5851132copy number variation1nstd209human GRCh38 chr12: 4,585,292-4,587,370 , GRCh37.p13 chr12: 4,694,458-4,696,536 DYRK4
    nsv5848226copy number variation1nstd209human GRCh38 chr12: 4,615,232-4,620,231 , GRCh37.p13 chr12: 4,724,398-4,729,397 AKAP3, DYRK4
    nsv5716890mobile element insertion1nstd211human GRCh38 chr12: 4,594,251-4,594,251 , GRCh37.p13 chr12: 4,703,417-4,703,417 DYRK4
    nsv5553720insertion1nstd206human GRCh38 chr12: 4,575,623-4,575,656 , GRCh37.p13 chr12: 4,684,789-4,684,822 DYRK4
    nsv5501824copy number variation1nstd206human GRCh38 chr12: 4,596,357-4,602,817 , GRCh37.p13 chr12: 4,705,523-4,711,983 LOC103568124, DYRK4
    nsv5494036copy number variation1nstd206human GRCh38 chr12: 4,612,634-4,612,686 , GRCh37.p13 chr12: 4,721,800-4,721,852 DYRK4
    nsv5381764copy number variation1nstd102humanPathogenic GRCh37 chr12: 3,619,010-5,221,363 , GRCh38.p12 chr12: 3,509,844-5,112,197 OTUD4P1, LOC105369612, 30 more genes
    nsv5380741copy number variation1nstd102humanUncertain significance GRCh37 chr12: 4,479,509-6,235,003 , GRCh38.p12 chr12: 4,370,343-6,125,837 ANO2, LOC105369617, 25 more genes
    nsv5368972translocation1nstd200human GRCh38 chr12: 4,575,070-4,575,070 , GRCh38 chr5: 138,555,339-138,555,339 , GRCh37.p13 chr12: 4,684,236-4,684,236 , GRCh37.p13 chr5: 137,891,028-137,891,028 HSPA9, DYRK4
    nsv5315623copy number variation1nstd204human GRCh38.p13 chr12: 4,568,664-4,572,518 , GRCh37.p13 chr12: 4,677,830-4,681,684 DYRK4
    nsv5277467copy number variation1nstd204human GRCh38.p13 chr12: 4,568,678-4,572,269 , GRCh37.p13 chr12: 4,677,844-4,681,435 DYRK4
    nsv5135445mobile element insertion1nstd203human GRCh38 chr12: 4,575,605-4,575,618 , GRCh37.p13 chr12: 4,684,771-4,684,784 DYRK4
    nsv5122294mobile element insertion1nstd203human GRCh38 chr12: 4,575,592-4,575,623 , GRCh37.p13 chr12: 4,684,758-4,684,789 DYRK4
    nsv4848752copy number variation1nstd200human GRCh37 chr12: 4,685,596-4,695,774 , GRCh38.p12 chr12: 4,576,430-4,586,608 DYRK4
    nsv4835068copy number variation1nstd200human GRCh37 chr12: 4,677,849-4,681,706 , GRCh38.p12 chr12: 4,568,683-4,572,540 DYRK4
    nsv4736394copy number variation1nstd199human GRCh37 chr12: 4,715,033-4,715,744 , GRCh38.p12 chr12: 4,605,867-4,606,578 DYRK4
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