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Items: 1 to 20 of 177

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5976275inversion1nstd209human GRCh38 chr12: 10,296,446-11,054,973 , GRCh37.p13 chr12: 10,449,045-11,207,572 , KLRC1, 40 more genes
    nsv5702099mobile element insertion2nstd211human GRCh38 chr12: 10,511,612-10,511,612 , GRCh37.p13 chr12: 10,664,211-10,664,211 LOC105369657, EIF2S3B
    nsv5433266mobile element insertion1nstd206human GRCh38 chr12: 10,511,612-10,511,663 , GRCh37.p13 chr12: 10,664,211-10,664,262 LOC105369657, EIF2S3B
    nsv5366624translocation1nstd200human GRCh38 chr12: 10,505,890-10,505,890 , GRCh38 chr2: 167,719,635-167,719,635 , GRCh37.p13 chr12: 10,658,489-10,658,489 , GRCh37.p13 chr2: 168,576,145-168,576,145 B3GALT1, EIF2S3B, 1 more genes
    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
    nsv4882300inversion1nstd200human GRCh37 chr12: 6,338,820-22,046,498 , GRCh38.p12 chr12: 6,229,654-21,893,564 , LOC105369686, 414 more genes
    nsv4840380copy number variation1nstd200human GRCh37 chr12: 10,657,034-10,657,440 , GRCh38.p12 chr12: 10,504,435-10,504,841 LOC105369657, EIF2S3B
    nsv4674941copy number variation1nstd102humanPathogenic GRCh37 chr12: 274,676-37,869,301 , GRCh38.p12 chr12: 165,510-37,475,499 LOC105376675, ATF7IP, 682 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
    nsv4436324complex substitution1nstd102humanUncertain significance GRCh38.p12 chr12: 9,922,177-18,648,019 , GRCh37 chr12: 10,074,776-18,800,953 ARHGDIB, ART4, 181 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
    nsv4350159copy number variation1nstd102humanPathogenic GRCh37 chr12: 10,336,209-13,535,349 , GRCh38.p12 chr12: 10,183,610-13,382,415 CREBL2, TAS2R18P, 103 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
    nsv4207749copy number variation1nstd166human GRCh37.p13 chr12: 10,672,912-10,689,133 , GRCh38.p12 chr12: 10,520,313-10,536,534 LOC105369657, EIF2S3B, 1 more genes
    nsv3955855copy number variation1nstd168human GRCh38 chr12: 10,362,163-10,510,688 , GRCh37.p13 chr12: 10,514,762-10,663,287 KLRC1, KLRC2, 7 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
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