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GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000050807.5

Allele description [Variation Report for GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1]

GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1

Genes:
  • LOC130008648:ATAC-STARR-seq lymphoblastoid active region 6942 [Gene]
  • LOC130008652:ATAC-STARR-seq lymphoblastoid active region 6943 [Gene]
  • LOC130008653:ATAC-STARR-seq lymphoblastoid active region 6944 [Gene]
  • LOC130008654:ATAC-STARR-seq lymphoblastoid active region 6945 [Gene]
  • LOC130008661:ATAC-STARR-seq lymphoblastoid active region 6948 [Gene]
  • LOC130008663:ATAC-STARR-seq lymphoblastoid active region 6949 [Gene]
  • LOC130008664:ATAC-STARR-seq lymphoblastoid active region 6950 [Gene]
  • LOC130008666:ATAC-STARR-seq lymphoblastoid active region 6951 [Gene]
  • LOC130008668:ATAC-STARR-seq lymphoblastoid active region 6952 [Gene]
  • LOC130008669:ATAC-STARR-seq lymphoblastoid active region 6953 [Gene]
  • LOC130008670:ATAC-STARR-seq lymphoblastoid active region 6954 [Gene]
  • LOC130008671:ATAC-STARR-seq lymphoblastoid active region 6955 [Gene]
  • LOC130008674:ATAC-STARR-seq lymphoblastoid active region 6956 [Gene]
  • LOC130008676:ATAC-STARR-seq lymphoblastoid active region 6957 [Gene]
  • LOC130008677:ATAC-STARR-seq lymphoblastoid active region 6958 [Gene]
  • LOC130008679:ATAC-STARR-seq lymphoblastoid active region 6959 [Gene]
  • LOC130008681:ATAC-STARR-seq lymphoblastoid active region 6960 [Gene]
  • LOC130008682:ATAC-STARR-seq lymphoblastoid active region 6962 [Gene]
  • LOC130008684:ATAC-STARR-seq lymphoblastoid active region 6963 [Gene]
  • LOC130008685:ATAC-STARR-seq lymphoblastoid active region 6964 [Gene]
  • LOC130008686:ATAC-STARR-seq lymphoblastoid active region 6965 [Gene]
  • LOC130008687:ATAC-STARR-seq lymphoblastoid active region 6966 [Gene]
  • LOC130008689:ATAC-STARR-seq lymphoblastoid active region 6967 [Gene]
  • LOC130008691:ATAC-STARR-seq lymphoblastoid active region 6968 [Gene]
  • LOC130008692:ATAC-STARR-seq lymphoblastoid active region 6969 [Gene]
  • LOC130008693:ATAC-STARR-seq lymphoblastoid active region 6970 [Gene]
  • LOC130008694:ATAC-STARR-seq lymphoblastoid active region 6971 [Gene]
  • LOC130008695:ATAC-STARR-seq lymphoblastoid active region 6972 [Gene]
  • LOC130008696:ATAC-STARR-seq lymphoblastoid active region 6973 [Gene]
  • LOC130008698:ATAC-STARR-seq lymphoblastoid active region 6974 [Gene]
  • LOC130008699:ATAC-STARR-seq lymphoblastoid active region 6976 [Gene]
  • LOC130008700:ATAC-STARR-seq lymphoblastoid active region 6977 [Gene]
  • LOC130008703:ATAC-STARR-seq lymphoblastoid active region 6978 [Gene]
  • LOC130008704:ATAC-STARR-seq lymphoblastoid active region 6979 [Gene]
  • LOC130008705:ATAC-STARR-seq lymphoblastoid active region 6980 [Gene]
  • LOC130008709:ATAC-STARR-seq lymphoblastoid active region 6982 [Gene]
  • LOC130008711:ATAC-STARR-seq lymphoblastoid active region 6983 [Gene]
  • LOC130008714:ATAC-STARR-seq lymphoblastoid active region 6984 [Gene]
  • LOC130008715:ATAC-STARR-seq lymphoblastoid active region 6985 [Gene]
  • LOC130008716:ATAC-STARR-seq lymphoblastoid active region 6986 [Gene]
  • LOC130008723:ATAC-STARR-seq lymphoblastoid active region 6987 [Gene]
  • LOC130008725:ATAC-STARR-seq lymphoblastoid active region 6988 [Gene]
  • LOC130008726:ATAC-STARR-seq lymphoblastoid active region 6989 [Gene]
  • LOC130008729:ATAC-STARR-seq lymphoblastoid active region 6990 [Gene]
  • LOC130008730:ATAC-STARR-seq lymphoblastoid active region 6991 [Gene]
  • LOC130008731:ATAC-STARR-seq lymphoblastoid active region 6992 [Gene]
  • LOC130008733:ATAC-STARR-seq lymphoblastoid active region 6993 [Gene]
  • LOC130008734:ATAC-STARR-seq lymphoblastoid active region 6994 [Gene]
  • LOC130008735:ATAC-STARR-seq lymphoblastoid active region 6995 [Gene]
  • LOC130008737:ATAC-STARR-seq lymphoblastoid active region 6998 [Gene]
  • LOC130008739:ATAC-STARR-seq lymphoblastoid active region 6999 [Gene]
  • LOC130008740:ATAC-STARR-seq lymphoblastoid active region 7000 [Gene]
  • LOC130008741:ATAC-STARR-seq lymphoblastoid active region 7001 [Gene]
  • LOC130008742:ATAC-STARR-seq lymphoblastoid active region 7002 [Gene]
  • LOC130008743:ATAC-STARR-seq lymphoblastoid active region 7003 [Gene]
  • LOC130008744:ATAC-STARR-seq lymphoblastoid active region 7004 [Gene]
  • LOC130008746:ATAC-STARR-seq lymphoblastoid active region 7005 [Gene]
  • LOC130008747:ATAC-STARR-seq lymphoblastoid active region 7006 [Gene]
  • LOC130008748:ATAC-STARR-seq lymphoblastoid active region 7007 [Gene]
  • LOC130008749:ATAC-STARR-seq lymphoblastoid active region 7008 [Gene]
  • LOC130008750:ATAC-STARR-seq lymphoblastoid active region 7009 [Gene]
  • LOC130008753:ATAC-STARR-seq lymphoblastoid active region 7010 [Gene]
  • LOC130008754:ATAC-STARR-seq lymphoblastoid active region 7011 [Gene]
  • LOC130008755:ATAC-STARR-seq lymphoblastoid active region 7012 [Gene]
  • LOC130008756:ATAC-STARR-seq lymphoblastoid active region 7013 [Gene]
  • LOC130008757:ATAC-STARR-seq lymphoblastoid active region 7014 [Gene]
  • LOC130008758:ATAC-STARR-seq lymphoblastoid active region 7016 [Gene]
  • LOC130008759:ATAC-STARR-seq lymphoblastoid active region 7017 [Gene]
  • LOC130008760:ATAC-STARR-seq lymphoblastoid active region 7018 [Gene]
  • LOC130008761:ATAC-STARR-seq lymphoblastoid active region 7019 [Gene]
  • LOC130008762:ATAC-STARR-seq lymphoblastoid active region 7020 [Gene]
  • LOC130008763:ATAC-STARR-seq lymphoblastoid active region 7021 [Gene]
  • LOC130008764:ATAC-STARR-seq lymphoblastoid active region 7022 [Gene]
  • LOC130008767:ATAC-STARR-seq lymphoblastoid active region 7023 [Gene]
  • LOC130008768:ATAC-STARR-seq lymphoblastoid active region 7024 [Gene]
  • LOC130008769:ATAC-STARR-seq lymphoblastoid active region 7025 [Gene]
  • LOC130008771:ATAC-STARR-seq lymphoblastoid active region 7026 [Gene]
  • LOC130008772:ATAC-STARR-seq lymphoblastoid active region 7027 [Gene]
  • LOC130008774:ATAC-STARR-seq lymphoblastoid active region 7028 [Gene]
  • LOC130008775:ATAC-STARR-seq lymphoblastoid active region 7029 [Gene]
  • LOC130008776:ATAC-STARR-seq lymphoblastoid active region 7030 [Gene]
  • LOC130008778:ATAC-STARR-seq lymphoblastoid active region 7031 [Gene]
  • LOC130008782:ATAC-STARR-seq lymphoblastoid active region 7032 [Gene]
  • LOC130008783:ATAC-STARR-seq lymphoblastoid active region 7033 [Gene]
  • LOC130008784:ATAC-STARR-seq lymphoblastoid active region 7034 [Gene]
  • LOC130008785:ATAC-STARR-seq lymphoblastoid active region 7035 [Gene]
  • LOC130008786:ATAC-STARR-seq lymphoblastoid active region 7036 [Gene]
  • LOC130008787:ATAC-STARR-seq lymphoblastoid active region 7037 [Gene]
  • LOC130008793:ATAC-STARR-seq lymphoblastoid active region 7038 [Gene]
  • LOC130008794:ATAC-STARR-seq lymphoblastoid active region 7039 [Gene]
  • LOC130008795:ATAC-STARR-seq lymphoblastoid active region 7040 [Gene]
  • LOC130008798:ATAC-STARR-seq lymphoblastoid active region 7041 [Gene]
  • LOC130008801:ATAC-STARR-seq lymphoblastoid active region 7043 [Gene]
  • LOC130008804:ATAC-STARR-seq lymphoblastoid active region 7045 [Gene]
  • LOC130008805:ATAC-STARR-seq lymphoblastoid active region 7046 [Gene]
  • LOC130008647:ATAC-STARR-seq lymphoblastoid silent region 4807 [Gene]
  • LOC130008649:ATAC-STARR-seq lymphoblastoid silent region 4809 [Gene]
  • LOC130008650:ATAC-STARR-seq lymphoblastoid silent region 4810 [Gene]
  • LOC130008651:ATAC-STARR-seq lymphoblastoid silent region 4811 [Gene]
  • LOC130008655:ATAC-STARR-seq lymphoblastoid silent region 4812 [Gene]
  • LOC130008656:ATAC-STARR-seq lymphoblastoid silent region 4813 [Gene]
  • LOC130008657:ATAC-STARR-seq lymphoblastoid silent region 4814 [Gene]
  • LOC130008658:ATAC-STARR-seq lymphoblastoid silent region 4815 [Gene]
  • LOC130008659:ATAC-STARR-seq lymphoblastoid silent region 4816 [Gene]
  • LOC130008660:ATAC-STARR-seq lymphoblastoid silent region 4817 [Gene]
  • LOC130008662:ATAC-STARR-seq lymphoblastoid silent region 4818 [Gene]
  • LOC130008665:ATAC-STARR-seq lymphoblastoid silent region 4820 [Gene]
  • LOC130008667:ATAC-STARR-seq lymphoblastoid silent region 4821 [Gene]
  • LOC130008672:ATAC-STARR-seq lymphoblastoid silent region 4822 [Gene]
  • LOC130008673:ATAC-STARR-seq lymphoblastoid silent region 4823 [Gene]
  • LOC130008675:ATAC-STARR-seq lymphoblastoid silent region 4824 [Gene]
  • LOC130008678:ATAC-STARR-seq lymphoblastoid silent region 4825 [Gene]
  • LOC130008680:ATAC-STARR-seq lymphoblastoid silent region 4826 [Gene]
  • LOC130008683:ATAC-STARR-seq lymphoblastoid silent region 4827 [Gene]
  • LOC130008688:ATAC-STARR-seq lymphoblastoid silent region 4828 [Gene]
  • LOC130008690:ATAC-STARR-seq lymphoblastoid silent region 4829 [Gene]
  • LOC130008697:ATAC-STARR-seq lymphoblastoid silent region 4830 [Gene]
  • LOC130008701:ATAC-STARR-seq lymphoblastoid silent region 4831 [Gene]
  • LOC130008702:ATAC-STARR-seq lymphoblastoid silent region 4833 [Gene]
  • LOC130008706:ATAC-STARR-seq lymphoblastoid silent region 4834 [Gene]
  • LOC130008707:ATAC-STARR-seq lymphoblastoid silent region 4835 [Gene]
  • LOC130008708:ATAC-STARR-seq lymphoblastoid silent region 4836 [Gene]
  • LOC130008710:ATAC-STARR-seq lymphoblastoid silent region 4837 [Gene]
  • LOC130008712:ATAC-STARR-seq lymphoblastoid silent region 4838 [Gene]
  • LOC130008713:ATAC-STARR-seq lymphoblastoid silent region 4839 [Gene]
  • LOC130008717:ATAC-STARR-seq lymphoblastoid silent region 4842 [Gene]
  • LOC130008718:ATAC-STARR-seq lymphoblastoid silent region 4843 [Gene]
  • LOC130008719:ATAC-STARR-seq lymphoblastoid silent region 4844 [Gene]
  • LOC130008720:ATAC-STARR-seq lymphoblastoid silent region 4845 [Gene]
  • LOC130008721:ATAC-STARR-seq lymphoblastoid silent region 4846 [Gene]
  • LOC130008722:ATAC-STARR-seq lymphoblastoid silent region 4847 [Gene]
  • LOC130008724:ATAC-STARR-seq lymphoblastoid silent region 4849 [Gene]
  • LOC130008727:ATAC-STARR-seq lymphoblastoid silent region 4850 [Gene]
  • LOC130008728:ATAC-STARR-seq lymphoblastoid silent region 4851 [Gene]
  • LOC130008732:ATAC-STARR-seq lymphoblastoid silent region 4852 [Gene]
  • LOC130008736:ATAC-STARR-seq lymphoblastoid silent region 4853 [Gene]
  • LOC130008738:ATAC-STARR-seq lymphoblastoid silent region 4854 [Gene]
  • LOC130008745:ATAC-STARR-seq lymphoblastoid silent region 4856 [Gene]
  • LOC130008751:ATAC-STARR-seq lymphoblastoid silent region 4857 [Gene]
  • LOC130008752:ATAC-STARR-seq lymphoblastoid silent region 4858 [Gene]
  • LOC130008765:ATAC-STARR-seq lymphoblastoid silent region 4859 [Gene]
  • LOC130008766:ATAC-STARR-seq lymphoblastoid silent region 4860 [Gene]
  • LOC130008770:ATAC-STARR-seq lymphoblastoid silent region 4861 [Gene]
  • LOC130008773:ATAC-STARR-seq lymphoblastoid silent region 4864 [Gene]
  • LOC130008777:ATAC-STARR-seq lymphoblastoid silent region 4865 [Gene]
  • LOC130008779:ATAC-STARR-seq lymphoblastoid silent region 4866 [Gene]
  • LOC130008780:ATAC-STARR-seq lymphoblastoid silent region 4867 [Gene]
  • LOC130008781:ATAC-STARR-seq lymphoblastoid silent region 4868 [Gene]
  • LOC130008788:ATAC-STARR-seq lymphoblastoid silent region 4869 [Gene]
  • LOC130008789:ATAC-STARR-seq lymphoblastoid silent region 4870 [Gene]
  • LOC130008790:ATAC-STARR-seq lymphoblastoid silent region 4871 [Gene]
  • LOC130008791:ATAC-STARR-seq lymphoblastoid silent region 4872 [Gene]
  • LOC130008792:ATAC-STARR-seq lymphoblastoid silent region 4873 [Gene]
  • LOC130008796:ATAC-STARR-seq lymphoblastoid silent region 4876 [Gene]
  • LOC130008797:ATAC-STARR-seq lymphoblastoid silent region 4877 [Gene]
  • LOC130008799:ATAC-STARR-seq lymphoblastoid silent region 4878 [Gene]
  • LOC130008800:ATAC-STARR-seq lymphoblastoid silent region 4879 [Gene]
  • LOC130008802:ATAC-STARR-seq lymphoblastoid silent region 4880 [Gene]
  • LOC130008803:ATAC-STARR-seq lymphoblastoid silent region 4881 [Gene]
  • ATP2A2:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 [Gene - OMIM - HGNC]
  • ATXN2-AS:ATXN2 antisense RNA [Gene - HGNC]
  • BRAP:BRCA1 associated protein [Gene - OMIM - HGNC]
  • LOC126861622:BRD4-independent group 4 enhancer GRCh37_chr12:106091383-106092582 [Gene]
  • LOC126861626:BRD4-independent group 4 enhancer GRCh37_chr12:108025204-108026403 [Gene]
  • LOC126861636:BRD4-independent group 4 enhancer GRCh37_chr12:110465819-110467018 [Gene]
  • LOC126861640:BRD4-independent group 4 enhancer GRCh37_chr12:111394805-111396004 [Gene]
  • C12orf75-AS1:C12orf75 antisense RNA 1 [Gene - HGNC]
  • LOC126861623:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:106328523-106329722 [Gene]
  • LOC126861627:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:108029159-108030358 [Gene]
  • LOC126861630:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:108918373-108919572 [Gene]
  • LOC126861631:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:109199370-109200569 [Gene]
  • LOC126861634:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:110108888-110110087 [Gene]
  • LOC126861635:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:110370433-110371632 [Gene]
  • LOC126861639:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:111290753-111291952 [Gene]
  • LOC116268448:CRISPRi-validated cis-regulatory element chr12.3588 [Gene]
  • LOC116268449:CRISPRi-validated cis-regulatory element chr12.3595 [Gene]
  • LOC116268450:CRISPRi-validated cis-regulatory element chr12.3641 [Gene]
  • DAO:D-amino acid oxidase [Gene - OMIM - HGNC]
  • FAM222A-AS1:FAM222A antisense RNA 1 [Gene - HGNC]
  • FICD:FIC domain protein adenylyltransferase [Gene - HGNC]
  • GIT2:GIT ArfGAP 2 [Gene - OMIM - HGNC]
  • GPN3:GPN-loop GTPase 3 [Gene - HGNC]
  • HECTD4:HECT domain E3 ubiquitin protein ligase 4 [Gene - OMIM - HGNC]
  • LOC111429608:HNF1 motif-containing MPRA enhancer 206 [Gene]
  • LOC111465008:HNF4 motif-containing MPRA enhancer 250 [Gene]
  • MAPKAPK5:MAPK activated protein kinase 5 [Gene - OMIM - HGNC]
  • MAPKAPK5-AS1:MAPKAPK5 antisense RNA 1 [Gene - HGNC]
  • LOC126861624:MED14-independent group 3 enhancer GRCh37_chr12:106348645-106349844 [Gene]
  • LOC126861625:MED14-independent group 3 enhancer GRCh37_chr12:107104586-107105785 [Gene]
  • LOC126861637:MED14-independent group 3 enhancer GRCh37_chr12:110778306-110779505 [Gene]
  • LOC126861638:MED14-independent group 3 enhancer GRCh37_chr12:110782389-110783588 [Gene]
  • LOC129390546:MPRA-validated peak1931 silencer [Gene]
  • LOC129390547:MPRA-validated peak1933 silencer [Gene]
  • LOC129390548:MPRA-validated peak1935 silencer [Gene]
  • LOC129390549:MPRA-validated peak1936 silencer [Gene]
  • LOC129390550:MPRA-validated peak1937 silencer [Gene]
  • LOC129390551:MPRA-validated peak1938 silencer [Gene]
  • LOC129390552:MPRA-validated peak1941 silencer [Gene]
  • LOC129390553:MPRA-validated peak1943 silencer [Gene]
  • LOC129390554:MPRA-validated peak1945 silencer [Gene]
  • LOC129390555:MPRA-validated peak1946 silencer [Gene]
  • LOC129390556:MPRA-validated peak1957 silencer [Gene]
  • LOC129390557:MPRA-validated peak1958 silencer [Gene]
  • NAA25:N-alpha-acetyltransferase 25, NatB auxiliary subunit [Gene - OMIM - HGNC]
  • NUAK1:NUAK family kinase 1 [Gene - OMIM - HGNC]
  • LOC132090004:Neanderthal introgressed variant-containing enhancer experimental_24094 [Gene]
  • LOC126861628:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:108780158-108781357 [Gene]
  • LOC126861629:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:108811567-108812766 [Gene]
  • LOC126861632:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:109231638-109232837 [Gene]
  • LOC126861633:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:109247741-109248940 [Gene]
  • PHETA1:PH domain containing endocytic trafficking adaptor 1 [Gene - OMIM - HGNC]
  • PRDM4:PR/SET domain 4 [Gene - OMIM - HGNC]
  • PRDM4-AS1:PRDM4 antisense RNA 1 [Gene - HGNC]
  • PWP1:PWP1 homolog, endonuclein [Gene - OMIM - HGNC]
  • RAD9B:RAD9 checkpoint clamp component B [Gene - OMIM - HGNC]
  • RIC8B:RIC8 guanine nucleotide exchange factor B [Gene - OMIM - HGNC]
  • POLR3B:RNA polymerase III subunit B [Gene - OMIM - HGNC]
  • SH2B3:SH2B adaptor protein 3 [Gene - OMIM - HGNC]
  • SVOP:SV2 related protein [Gene - OMIM - HGNC]
  • LOC124819392:Sharpr-MPRA regulatory region 10758 [Gene]
  • LOC124819388:Sharpr-MPRA regulatory region 11062 [Gene]
  • LOC124819397:Sharpr-MPRA regulatory region 11384 [Gene]
  • LOC112136104:Sharpr-MPRA regulatory region 11431 [Gene]
  • LOC124819391:Sharpr-MPRA regulatory region 1195 [Gene]
  • LOC112136102:Sharpr-MPRA regulatory region 12855 [Gene]
  • LOC121466712:Sharpr-MPRA regulatory region 1299 [Gene]
  • LOC112136108:Sharpr-MPRA regulatory region 13461 [Gene]
  • LOC124819395:Sharpr-MPRA regulatory region 176 [Gene]
  • LOC112136107:Sharpr-MPRA regulatory region 2512 [Gene]
  • LOC124819400:Sharpr-MPRA regulatory region 3484 [Gene]
  • LOC124819398:Sharpr-MPRA regulatory region 3729 [Gene]
  • LOC124819399:Sharpr-MPRA regulatory region 4252 [Gene]
  • LOC121466714:Sharpr-MPRA regulatory region 4572 [Gene]
  • LOC124819402:Sharpr-MPRA regulatory region 5198 [Gene]
  • LOC124819401:Sharpr-MPRA regulatory region 5697 [Gene]
  • LOC112136111:Sharpr-MPRA regulatory region 5940 [Gene]
  • LOC124819393:Sharpr-MPRA regulatory region 632 [Gene]
  • LOC124819390:Sharpr-MPRA regulatory region 7289 [Gene]
  • LOC113939931:Sharpr-MPRA regulatory region 8395 [Gene]
  • LOC112136105:Sharpr-MPRA regulatory region 839 [Gene]
  • LOC121466713:Sharpr-MPRA regulatory region 8786 [Gene]
  • LOC124819389:Sharpr-MPRA regulatory region 8958 [Gene]
  • LOC124819394:Sharpr-MPRA regulatory region 9141 [Gene]
  • LOC124819396:Sharpr-MPRA regulatory region 9197 [Gene]
  • LOC121838563:Sharpr-MPRA regulatory region 9585 [Gene]
  • LOC112136103:Sharpr-MPRA regulatory region 9924 [Gene]
  • TMEM263-DT:TMEM263 divergent transcript [Gene - HGNC]
  • TRAFD1:TRAF-type zinc finger domain containing 1 [Gene - OMIM - HGNC]
  • USP30-AS1:USP30 antisense RNA 1 [Gene - HGNC]
  • LOC114827850:VISTA enhancer hs2149 [Gene]
  • LOC114827856:VISTA enhancer hs2493 [Gene]
  • LOC110120908:VISTA enhancer hs611 [Gene]
  • VPS29:VPS29 retromer complex component [Gene - OMIM - HGNC]
  • WSCD2:WSC domain containing 2 [Gene - OMIM - HGNC]
  • ACACB:acetyl-CoA carboxylase beta [Gene - OMIM - HGNC]
  • ASCL4:achaete-scute family bHLH transcription factor 4 [Gene - OMIM - HGNC]
  • ARPC3:actin related protein 2/3 complex subunit 3 [Gene - OMIM - HGNC]
  • ACAD10:acyl-CoA dehydrogenase family member 10 [Gene - OMIM - HGNC]
  • APPL2:adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 [Gene - OMIM - HGNC]
  • ALDH2:aldehyde dehydrogenase 2 family member [Gene - OMIM - HGNC]
  • ALKBH2:alkB homolog 2, alpha-ketoglutarate dependent dioxygenase [Gene - OMIM - HGNC]
  • ANAPC7:anaphase promoting complex subunit 7 [Gene - OMIM - HGNC]
  • ABTB3:ankyrin repeat and BTB domain containing 3 [Gene - HGNC]
  • ANKRD13A:ankyrin repeat domain 13A [Gene - OMIM - HGNC]
  • ATXN2:ataxin 2 [Gene - OMIM - HGNC]
  • CASC18:cancer susceptibility 18 [Gene - HGNC]
  • CMKLR1:chemerin chemokine-like receptor 1 [Gene - OMIM - HGNC]
  • C12orf75:chromosome 12 open reading frame 75 [Gene - HGNC]
  • C12orf76:chromosome 12 open reading frame 76 [Gene - HGNC]
  • CCDC63:coiled-coil domain containing 63 [Gene - OMIM - HGNC]
  • CORO1C:coronin 1C [Gene - OMIM - HGNC]
  • CRY1:cryptochrome circadian regulator 1 [Gene - OMIM - HGNC]
  • CUX2:cut like homeobox 2 [Gene - OMIM - HGNC]
  • CKAP4:cytoskeleton associated protein 4 [Gene - OMIM - HGNC]
  • ERP29:endoplasmic reticulum protein 29 [Gene - OMIM - HGNC]
  • FAM216A:family with sequence similarity 216 member A [Gene - HGNC]
  • FAM222A:family with sequence similarity 222 member A [Gene - HGNC]
  • FOXN4:forkhead box N4 [Gene - OMIM - HGNC]
  • GLTP:glycolipid transfer protein [Gene - OMIM - HGNC]
  • HVCN1:hydrogen voltage gated channel 1 [Gene - OMIM - HGNC]
  • IFT81:intraflagellar transport 81 [Gene - OMIM - HGNC]
  • ISCU:iron-sulfur cluster assembly enzyme [Gene - OMIM - HGNC]
  • LINC01404:long intergenic non-protein coding RNA 1404 [Gene - HGNC]
  • LINC01405:long intergenic non-protein coding RNA 1405 [Gene - HGNC]
  • LINC01486:long intergenic non-protein coding RNA 1486 [Gene - HGNC]
  • LINC01498:long intergenic non-protein coding RNA 1498 [Gene - HGNC]
  • LINC02356:long intergenic non-protein coding RNA 2356 [Gene - HGNC]
  • MMAB:metabolism of cobalamin associated B [Gene - OMIM - HGNC]
  • MVK:mevalonate kinase [Gene - OMIM - HGNC]
  • MIR3657:microRNA 3657 [Gene - HGNC]
  • MIR4496:microRNA 4496 [Gene - HGNC]
  • MIR4497:microRNA 4497 [Gene - HGNC]
  • MIR619:microRNA 619 [Gene - HGNC]
  • MIR6760:microRNA 6760 [Gene - HGNC]
  • MIR6761:microRNA 6761 [Gene - HGNC]
  • MIR6861:microRNA 6861 [Gene - HGNC]
  • MTERF2:mitochondrial transcription termination factor 2 [Gene - OMIM - HGNC]
  • MYO1H:myosin IH [Gene - OMIM - HGNC]
  • MYL2:myosin light chain 2 [Gene - OMIM - HGNC]
  • KCTD10:potassium channel tetramerization domain containing 10 [Gene - OMIM - HGNC]
  • PPP1CC:protein phosphatase 1 catalytic subunit gamma [Gene - OMIM - HGNC]
  • PPTC7:protein phosphatase targeting COQ7 [Gene - OMIM - HGNC]
  • RFX4:regulatory factor X4 [Gene - OMIM - HGNC]
  • SELPLG:selectin P ligand [Gene - OMIM - HGNC]
  • SSH1:slingshot protein phosphatase 1 [Gene - OMIM - HGNC]
  • SART3:spliceosome associated factor 3, U4/U6 recycling protein [Gene - OMIM - HGNC]
  • TCP11L2:t-complex 11 like 2 [Gene - OMIM - HGNC]
  • TCTN1:tectonic family member 1 [Gene - OMIM - HGNC]
  • TRPV4:transient receptor potential cation channel subfamily V member 4 [Gene - OMIM - HGNC]
  • TMEM116:transmembrane protein 116 [Gene - HGNC]
  • TMEM119:transmembrane protein 119 [Gene - OMIM - HGNC]
  • TMEM263:transmembrane protein 263 [Gene - HGNC]
  • TCHP:trichoplein keratin filament binding [Gene - OMIM - HGNC]
  • UBE3B:ubiquitin protein ligase E3B [Gene - OMIM - HGNC]
  • USP30:ubiquitin specific peptidase 30 [Gene - OMIM - HGNC]
  • LOC100287944:uncharacterized LOC100287944 [Gene]
  • LOC100505978:uncharacterized LOC100505978 [Gene]
  • UNG:uracil DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
12q23.3-24.13
Genomic location:
Preferred name:
GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1
HGVS:
  • NC_000012.12:g.(?_105234677)_(112194686_?)del
  • NC_000012.10:g.(?_104152585)_(111116873_?)del
  • NC_000012.11:g.(?_105628455)_(112632490_?)del
Links:
dbVar: nssv577404; dbVar: nsv529400
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000078140ISCA site 4

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 4, SCV000078140.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024