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Items: 1 to 20 of 116

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5381788copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 15,800,060-15,865,927 , GRCh38.p12 chr12: 15,647,126-15,712,993 EPS8, RNU6-251P
    nsv5323122inversion1nstd204human GRCh37.p13 chr12: 6,338,815-22,046,498 , GRCh38.p13 chr12: 6,229,649-21,893,564 , A2M, 414 more genes
    nsv4882300inversion1nstd200human GRCh37 chr12: 6,338,820-22,046,498 , GRCh38.p12 chr12: 6,229,654-21,893,564 , LOC105369686, 414 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
    nsv4674941copy number variation1nstd102humanPathogenic GRCh37 chr12: 274,676-37,869,301 , GRCh38.p12 chr12: 165,510-37,475,499 LOC105376675, ATF7IP, 682 more genes
    nsv4515242mobile element insertion1nstd166human GRCh37.p13 chr12: 15,823,311-15,823,311 , GRCh38.p12 chr12: 15,670,377-15,670,377 RNU6-251P, EPS8
    nsv4457255copy number variation1nstd102humanUncertain significance GRCh37 chr12: 15,630,989-16,090,925 , GRCh38.p12 chr12: 15,478,055-15,937,991 LOC102724146, PTPRO, 6 more genes
    nsv4456660copy number variation1nstd102humanUncertain significance GRCh37 chr12: 15,745,414-15,961,746 , GRCh38.p12 chr12: 15,592,480-15,808,812 EPS8, PTPRO, 2 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
    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
    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
    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
    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
    nsv3914661copy number variation1nstd102humanLikely pathogenic NCBI36 chr12: 11,164,905-15,952,355 , GRCh37 chr12: 11,273,638-16,061,088 , GRCh38 chr12: 11,121,039-15,908,154 ARHGDIB, ART4, 100 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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