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Items: 1 to 20 of 137

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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
    nsv5921920copy number variation1nstd209human GRCh38 chr12: 3,058,695-6,171,259 , GRCh37.p13 chr12: 3,167,861-6,280,425 , LOC105369623, 54 more genes
    nsv5501824copy number variation1nstd206human GRCh38 chr12: 4,596,357-4,602,817 , GRCh37.p13 chr12: 4,705,523-4,711,983 LOC103568124, 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
    nsv4679795copy number variation1nstd189human GRCh37.p13 chr12: 4,504,235-4,966,214 , GRCh38.p12 chr12: 4,395,069-4,857,048 , FGF6, 10 more genes
    nsv4674941copy number variation1nstd102humanPathogenic GRCh37 chr12: 274,676-37,869,301 , GRCh38.p12 chr12: 165,510-37,475,499 LOC105376675, ATF7IP, 682 more genes
    nsv4577515mobile element insertion1nstd166human GRCh37.p13 chr12: 4,710,809-4,710,809 , GRCh38.p12 chr12: 4,601,643-4,601,643 LOC103568124, DYRK4
    nsv4457052copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,786-6,346,092 , GRCh38.p12 chr12: 64,620-6,236,926 TSPAN9, RNU6-174P, 118 more genes
    nsv4455658copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,786-8,393,815 , GRCh38.p12 chr12: 64,620-8,241,219 PLEKHG6, MIR141, 226 more genes
    nsv4455458copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,786-34,496,628 , GRCh38.p12 chr12: 64,620-34,343,693 EMP1, PLBD1-AS1, 684 more genes
    nsv4350818copy number variation1nstd102humanPathogenic GRCh37 chr12: 189,216-15,001,420 , GRCh38.p12 chr12: 80,050-14,848,486 LOC107984495, KLRC1, 432 more genes
    nsv4349513copy number variation1nstd102humanPathogenic GRCh37 chr12: 189,216-8,185,497 , GRCh38.p12 chr12: 80,050-8,032,901 LOC105369617, LRTM2, 214 more genes
    nsv4348793copy number variation1nstd102humanPathogenic GRCh37 chr12: 237,588-8,278,292 , GRCh38.p12 chr12: 128,422-8,125,696 RN7SL69P, GAPDH-DT, 216 more genes
    nsv3971839copy number variation1nstd102humannot provided GRCh38 chr12: 1-9,000,000 , GRCh37.p13 chr12: 282,465-9,152,596 RNU4ATAC16P, RNU6-174P, 257 more genes
    nsv3968993copy number variation1nstd168human GRCh38 chr12: 4,601,673-4,659,152 , GRCh37.p13 chr12: 4,710,839-4,768,318 LOC100420673, AKAP3, 3 more genes
    nsv3959201insertion1nstd168human GRCh38 chr12: 4,603,561-4,648,806 , GRCh37.p13 chr12: 4,712,727-4,757,972 NDUFA9, DYRK4, 3 more genes
    nsv3924654copy number variation1nstd102humanPathogenic NCBI36 chr12: 397,848-6,215,341 , GRCh37 chr12: 527,587-6,345,080 , GRCh38 chr12: 418,421-6,235,914 RHNO1, RN7SL69P, 108 more genes
    nsv3924262copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,786-34,835,837 , GRCh38 chr12: 64,620-34,682,902 , NCBI36 chr12: 44,047-34,727,104 ENO2, SLC6A13, 684 more genes
    nsv3922302copy number variation1nstd102humanPathogenic NCBI36 chr12: 17,360-6,924,620 , GRCh37 chr12: 147,099-7,054,359 , GRCh38 chr12: 45,740-6,945,196 HSPA8P5, LOC105369594, 172 more genes
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