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Items: 1 to 20 of 150

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5694370mobile element insertion2nstd211human GRCh38 chr12: 13,083,875-13,083,875 , GRCh37.p13 chr12: 13,236,809-13,236,809 GSG1, FAM234B
    nsv5378550translocation1nstd200human GRCh38 chr6: 75,601,857-75,601,857 , GRCh38 chr12: 13,094,749-13,094,749 , GRCh37.p13 chr12: 13,247,683-13,247,683 , GRCh37.p13 chr6: 76,311,573-76,311,573 SENP6, GSG1
    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
    nsv4682144copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr12: 12,869,936-14,135,064 , GRCh38.p12 chr12: 12,717,002-13,982,130 GPR19, EMP1, 26 more genes
    nsv4675174copy number variation1nstd102humanPathogenic GRCh37 chr12: 11,737,824-16,780,886 , GRCh38.p12 chr12: 11,584,890-16,627,952 LOC107001063, RN7SKP162, 89 more genes
    nsv4675113copy number variation1nstd102humanUncertain significance GRCh37 chr12: 13,242,996-13,356,273 , GRCh38.p12 chr12: 13,090,062-13,203,339 LOC105369666, GSG1, 1 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
    nsv4455458copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,786-34,496,628 , GRCh38.p12 chr12: 64,620-34,343,693 EMP1, PLBD1-AS1, 684 more genes
    nsv4436483complex substitution1nstd102humanassociation NCBI36 chr12: 13,090,968-16,310,672 , GRCh38.p12 chr12: 13,046,767-16,266,471 , GRCh37.p13 chr12: 13,199,701-16,419,405 ARHGDIB, ART4, 48 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
    nsv4417532copy number variation1nstd174human GRCh37 chr12: 13,257,101-13,259,862 , GRCh38.p12 chr12: 13,104,167-13,106,928 GSG1
    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
    nsv4329748inversion1nstd166human GRCh37.p13 chr12: 11,408,826-18,017,850 , GRCh38.p12 chr12: 11,255,910-17,864,916 , ARHGDIB, 116 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
    nsv3964655insertion1nstd168human GRCh38 chr12: 13,046,491-13,083,367 , GRCh37.p13 chr12: 13,199,425-13,236,301 FAM234B, GSG1
    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
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