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Items: 1 to 20 of 139

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5323122inversion1nstd204human GRCh37.p13 chr12: 6,338,815-22,046,498 , GRCh38.p13 chr12: 6,229,649-21,893,564 , A2M, 414 more genes
    nsv5029743inversion1nstd200human GRCh38 chr12: 7,297,013-15,308,349 , GRCh37.p13 chr12: 7,449,609-15,461,283 , MIR1244-4, 259 more genes
    nsv4972147copy number variation1nstd200human GRCh38 chr12: 9,233,030-9,233,108 , GRCh37.p13 chr12: 9,385,626-9,385,704 A2MP1
    nsv4882300inversion1nstd200human GRCh37 chr12: 6,338,820-22,046,498 , GRCh38.p12 chr12: 6,229,654-21,893,564 , LOC105369686, 414 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
    nsv4616968copy number variation1nstd183human GRCh37 chr12: 9,368,676-9,456,821 , GRCh38.p12 chr12: 9,216,080-9,304,225 A2MP1, PTMAP4, 4 more genes
    nsv4616824copy number variation1nstd183human GRCh37 chr12: 8,488,721-9,625,223 , GRCh38.p12 chr12: 8,336,125-9,472,627 , BTG1P1, 43 more genes
    nsv4609577copy number variation1nstd183human GRCh37 chr12: 9,305,636-9,546,438 , GRCh38.p12 chr12: 9,153,040-9,393,842 , A2MP1, 10 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
    nsv4324171inversion1nstd166human GRCh37.p13 chr12: 6,338,819-22,046,498 , GRCh38.p12 chr12: 6,229,653-21,893,564 , APOBEC1, 414 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
    nsv3922178copy number variation1nstd102humanPathogenic GRCh37 chr12: 2,980,907-15,140,282 , NCBI36 chr12: 2,851,168-15,031,549 , GRCh38 chr12: 2,871,741-14,987,348 H2AJ, GPR162, 378 more genes
    nsv3919557copy number variation1nstd102humanPathogenic NCBI36 chr12: 59,934-11,147,715 , GRCh37.p13 chr12: 189,673-11,256,448 , GRCh38.p12 chr12: 80,507-11,103,849 ING4, LINC02827, 350 more genes
    nsv3918302copy number variation1nstd102humanPathogenic GRCh38 chr12: 80,412-25,470,329 , GRCh37 chr12: 282,465-25,623,263 , NCBI36 chr12: 59,839-25,514,530 MIR3974, RPL13P5, 558 more genes
    nsv3917488copy number variation1nstd102humanPathogenic NCBI36 chr12: 192,403-33,971,115 , GRCh37 chr12: 322,142-34,079,848 , GRCh38 chr12: 212,976-33,926,913 LOC374443, LINC00937, 674 more genes
    nsv3916888copy number variation1nstd102humanPathogenic NCBI36 chr12: 1,702,546-9,626,746 , GRCh37.p13 chr12: 1,832,285-9,735,479 , GRCh38.p12 chr12: 1,723,119-9,582,883 RPS20P29, ANO2, 244 more genes
    nsv3916538copy number variation1nstd102humanPathogenic GRCh38 chr12: 77,187-34,380,176 , GRCh37 chr12: 282,465-34,533,111 , NCBI36 chr12: 56,614-34,424,378 A2M, DSTNP2, 684 more genes
    nsv3916135copy number variation1nstd102humanPathogenic GRCh38 chr12: 121,271-34,603,261 , NCBI36 chr12: 100,698-34,647,463 , GRCh37 chr12: 282,465-34,756,196 TAS2R7, RPL7P6, 683 more genes
    nsv3914427copy number variation1nstd102humanPathogenic NCBI36 chr12: 18,636-36,150,744 , GRCh37.p13 chr12: 148,375-37,864,477 , GRCh38.p12 chr12: 43,334-37,470,675 LOC105369667, ELOCP31, 684 more genes
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