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Items: 1 to 20 of 148

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5923742copy number variation1nstd209human GRCh38 chr12: 21,398,810-28,763,815 , GRCh37.p13 chr12: 21,551,744-28,916,748 , LOC105369710, 101 more genes
    nsv5916901copy number variation1nstd209human GRCh38 chr12: 21,398,719-28,763,765 , GRCh37.p13 chr12: 21,551,653-28,916,698 , LOC105369704, 101 more genes
    nsv5912980copy number variation1nstd209human GRCh38 chr12: 25,481,034-28,003,055 , GRCh37.p13 chr12: 25,633,968-28,155,988 , ITPR2-AS1, 36 more genes
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4709341copy number variation1nstd195human GRCh37 chr12: 26,079,801-26,229,201 , GRCh38.p12 chr12: 25,926,868-26,076,268 RASSF8, RASSF8-AS1, 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
    nsv4456793copy number variation1nstd102humanPathogenic GRCh37 chr12: 16,141,429-27,733,325 , GRCh38.p12 chr12: 15,988,495-27,580,392 PDE3A, ETFRF1, 133 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
    nsv4205992copy number variation1nstd166human GRCh37.p13 chr12: 26,155,898-26,156,004 , GRCh38.p12 chr12: 26,002,965-26,003,071 RASSF8, LOC107984501
    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
    nsv3917950copy number variation1nstd102humanPathogenic NCBI36 chr12: 22,180,058-27,459,940 , GRCh37.p13 chr12: 22,288,791-27,568,673 , GRCh38.p12 chr12: 22,135,857-27,415,740 LOC105369698, FAM133GP, 60 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
    nsv3915489copy number variation1nstd102humanPathogenic NCBI36 chr12: 19,340,049-27,056,760 , GRCh38 chr12: 19,295,848-27,012,560 , GRCh37 chr12: 19,448,782-27,165,493 INTS13, RECQL, 97 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
    nsv3914194copy number variation1nstd102humanPathogenic NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807 , BTG1P1, 2451 more genes
    nsv3914149copy number variation1nstd102humanPathogenic GRCh38 chr12: 121,255-34,603,274 , NCBI36 chr12: 100,682-34,647,476 , GRCh37 chr12: 282,465-34,756,209 PSMC1P8, RPLP2P4, 683 more genes
    nsv3912952copy number variation1nstd102humanPathogenic NCBI36 chr12: 25,308,034-34,108,730 , GRCh38 chr12: 25,263,833-34,064,528 , GRCh37 chr12: 25,416,767-34,217,463 LOC101060058, LOC101928735, 125 more genes
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