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GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 10, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000138145.5

Allele description

GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3

Genes:
  • AKAP14:A-kinase anchoring protein 14 [Gene - OMIM - HGNC]
  • LOC130068572:ATAC-STARR-seq lymphoblastoid active region 29868 [Gene]
  • LOC130068573:ATAC-STARR-seq lymphoblastoid active region 29869 [Gene]
  • LOC130068574:ATAC-STARR-seq lymphoblastoid active region 29870 [Gene]
  • LOC130068575:ATAC-STARR-seq lymphoblastoid active region 29871 [Gene]
  • LOC130068576:ATAC-STARR-seq lymphoblastoid active region 29872 [Gene]
  • LOC130068577:ATAC-STARR-seq lymphoblastoid active region 29873 [Gene]
  • LOC130068578:ATAC-STARR-seq lymphoblastoid active region 29874 [Gene]
  • LOC130068579:ATAC-STARR-seq lymphoblastoid active region 29875 [Gene]
  • LOC130068580:ATAC-STARR-seq lymphoblastoid active region 29876 [Gene]
  • LOC130068581:ATAC-STARR-seq lymphoblastoid active region 29877 [Gene]
  • LOC130068583:ATAC-STARR-seq lymphoblastoid active region 29878 [Gene]
  • LOC130068593:ATAC-STARR-seq lymphoblastoid active region 29879 [Gene]
  • LOC130068594:ATAC-STARR-seq lymphoblastoid active region 29880 [Gene]
  • LOC130068595:ATAC-STARR-seq lymphoblastoid active region 29881 [Gene]
  • LOC130068597:ATAC-STARR-seq lymphoblastoid active region 29882 [Gene]
  • LOC130068598:ATAC-STARR-seq lymphoblastoid active region 29883 [Gene]
  • LOC130068599:ATAC-STARR-seq lymphoblastoid active region 29884 [Gene]
  • LOC130068600:ATAC-STARR-seq lymphoblastoid active region 29885 [Gene]
  • LOC130068601:ATAC-STARR-seq lymphoblastoid active region 29886 [Gene]
  • LOC130068602:ATAC-STARR-seq lymphoblastoid active region 29887 [Gene]
  • LOC130068603:ATAC-STARR-seq lymphoblastoid active region 29888 [Gene]
  • LOC130068604:ATAC-STARR-seq lymphoblastoid active region 29889 [Gene]
  • LOC130068605:ATAC-STARR-seq lymphoblastoid active region 29890 [Gene]
  • LOC130068606:ATAC-STARR-seq lymphoblastoid active region 29891 [Gene]
  • LOC130068608:ATAC-STARR-seq lymphoblastoid active region 29892 [Gene]
  • LOC130068610:ATAC-STARR-seq lymphoblastoid active region 29893 [Gene]
  • LOC130068611:ATAC-STARR-seq lymphoblastoid active region 29894 [Gene]
  • LOC130068612:ATAC-STARR-seq lymphoblastoid active region 29895 [Gene]
  • LOC130068615:ATAC-STARR-seq lymphoblastoid active region 29896 [Gene]
  • LOC130068616:ATAC-STARR-seq lymphoblastoid active region 29897 [Gene]
  • LOC130068617:ATAC-STARR-seq lymphoblastoid active region 29898 [Gene]
  • LOC130068618:ATAC-STARR-seq lymphoblastoid active region 29899 [Gene]
  • LOC130068619:ATAC-STARR-seq lymphoblastoid active region 29900 [Gene]
  • LOC130068620:ATAC-STARR-seq lymphoblastoid active region 29901 [Gene]
  • LOC130068621:ATAC-STARR-seq lymphoblastoid active region 29902 [Gene]
  • LOC130068622:ATAC-STARR-seq lymphoblastoid active region 29903 [Gene]
  • LOC130068623:ATAC-STARR-seq lymphoblastoid active region 29904 [Gene]
  • LOC130068624:ATAC-STARR-seq lymphoblastoid active region 29905 [Gene]
  • LOC130068625:ATAC-STARR-seq lymphoblastoid active region 29906 [Gene]
  • LOC130068626:ATAC-STARR-seq lymphoblastoid active region 29907 [Gene]
  • LOC130068627:ATAC-STARR-seq lymphoblastoid active region 29908 [Gene]
  • LOC130068628:ATAC-STARR-seq lymphoblastoid active region 29909 [Gene]
  • LOC130068629:ATAC-STARR-seq lymphoblastoid active region 29910 [Gene]
  • LOC130068630:ATAC-STARR-seq lymphoblastoid active region 29912 [Gene]
  • LOC130068632:ATAC-STARR-seq lymphoblastoid active region 29913 [Gene]
  • LOC130068633:ATAC-STARR-seq lymphoblastoid active region 29914 [Gene]
  • LOC130068635:ATAC-STARR-seq lymphoblastoid active region 29915 [Gene]
  • LOC130068638:ATAC-STARR-seq lymphoblastoid active region 29916 [Gene]
  • LOC130068639:ATAC-STARR-seq lymphoblastoid active region 29917 [Gene]
  • LOC130068640:ATAC-STARR-seq lymphoblastoid active region 29918 [Gene]
  • LOC130068642:ATAC-STARR-seq lymphoblastoid active region 29919 [Gene]
  • LOC130068643:ATAC-STARR-seq lymphoblastoid active region 29920 [Gene]
  • LOC130068644:ATAC-STARR-seq lymphoblastoid active region 29921 [Gene]
  • LOC130068645:ATAC-STARR-seq lymphoblastoid active region 29922 [Gene]
  • LOC130068646:ATAC-STARR-seq lymphoblastoid active region 29923 [Gene]
  • LOC130068647:ATAC-STARR-seq lymphoblastoid active region 29924 [Gene]
  • LOC130068648:ATAC-STARR-seq lymphoblastoid active region 29925 [Gene]
  • LOC130068649:ATAC-STARR-seq lymphoblastoid active region 29926 [Gene]
  • LOC130068650:ATAC-STARR-seq lymphoblastoid active region 29927 [Gene]
  • LOC130068651:ATAC-STARR-seq lymphoblastoid active region 29928 [Gene]
  • LOC130068652:ATAC-STARR-seq lymphoblastoid active region 29929 [Gene]
  • LOC130068653:ATAC-STARR-seq lymphoblastoid active region 29930 [Gene]
  • LOC130068655:ATAC-STARR-seq lymphoblastoid active region 29931 [Gene]
  • LOC130068662:ATAC-STARR-seq lymphoblastoid active region 29932 [Gene]
  • LOC130068666:ATAC-STARR-seq lymphoblastoid active region 29933 [Gene]
  • LOC130068667:ATAC-STARR-seq lymphoblastoid active region 29934 [Gene]
  • LOC130068668:ATAC-STARR-seq lymphoblastoid active region 29935 [Gene]
  • LOC130068669:ATAC-STARR-seq lymphoblastoid active region 29936 [Gene]
  • LOC130068670:ATAC-STARR-seq lymphoblastoid active region 29937 [Gene]
  • LOC130068677:ATAC-STARR-seq lymphoblastoid active region 29938 [Gene]
  • LOC130068679:ATAC-STARR-seq lymphoblastoid active region 29939 [Gene]
  • LOC130068680:ATAC-STARR-seq lymphoblastoid active region 29940 [Gene]
  • LOC130068683:ATAC-STARR-seq lymphoblastoid active region 29941 [Gene]
  • LOC130068685:ATAC-STARR-seq lymphoblastoid active region 29942 [Gene]
  • LOC130068686:ATAC-STARR-seq lymphoblastoid active region 29943 [Gene]
  • LOC130068687:ATAC-STARR-seq lymphoblastoid active region 29944 [Gene]
  • LOC130068688:ATAC-STARR-seq lymphoblastoid active region 29945 [Gene]
  • LOC130068689:ATAC-STARR-seq lymphoblastoid active region 29948 [Gene]
  • LOC130068691:ATAC-STARR-seq lymphoblastoid active region 29949 [Gene]
  • LOC130068692:ATAC-STARR-seq lymphoblastoid active region 29950 [Gene]
  • LOC130068693:ATAC-STARR-seq lymphoblastoid active region 29951 [Gene]
  • LOC130068694:ATAC-STARR-seq lymphoblastoid active region 29952 [Gene]
  • LOC130068695:ATAC-STARR-seq lymphoblastoid active region 29953 [Gene]
  • LOC130068696:ATAC-STARR-seq lymphoblastoid active region 29954 [Gene]
  • LOC130068697:ATAC-STARR-seq lymphoblastoid active region 29955 [Gene]
  • LOC130068698:ATAC-STARR-seq lymphoblastoid active region 29956 [Gene]
  • LOC130068699:ATAC-STARR-seq lymphoblastoid active region 29957 [Gene]
  • LOC130068700:ATAC-STARR-seq lymphoblastoid active region 29958 [Gene]
  • LOC130068701:ATAC-STARR-seq lymphoblastoid active region 29959 [Gene]
  • LOC130068702:ATAC-STARR-seq lymphoblastoid active region 29960 [Gene]
  • LOC130068703:ATAC-STARR-seq lymphoblastoid active region 29961 [Gene]
  • LOC130068704:ATAC-STARR-seq lymphoblastoid active region 29962 [Gene]
  • LOC130068705:ATAC-STARR-seq lymphoblastoid active region 29963 [Gene]
  • LOC130068706:ATAC-STARR-seq lymphoblastoid active region 29964 [Gene]
  • LOC130068707:ATAC-STARR-seq lymphoblastoid active region 29965 [Gene]
  • LOC130068709:ATAC-STARR-seq lymphoblastoid active region 29966 [Gene]
  • LOC130068710:ATAC-STARR-seq lymphoblastoid active region 29967 [Gene]
  • LOC130068714:ATAC-STARR-seq lymphoblastoid active region 29971 [Gene]
  • LOC130068715:ATAC-STARR-seq lymphoblastoid active region 29972 [Gene]
  • LOC130068717:ATAC-STARR-seq lymphoblastoid active region 29973 [Gene]
  • LOC130068718:ATAC-STARR-seq lymphoblastoid active region 29974 [Gene]
  • LOC130068719:ATAC-STARR-seq lymphoblastoid active region 29975 [Gene]
  • LOC130068720:ATAC-STARR-seq lymphoblastoid active region 29976 [Gene]
  • LOC130068726:ATAC-STARR-seq lymphoblastoid active region 29977 [Gene]
  • LOC130068729:ATAC-STARR-seq lymphoblastoid active region 29978 [Gene]
  • LOC130068730:ATAC-STARR-seq lymphoblastoid active region 29979 [Gene]
  • LOC130068732:ATAC-STARR-seq lymphoblastoid active region 29980 [Gene]
  • LOC130068736:ATAC-STARR-seq lymphoblastoid active region 29981 [Gene]
  • LOC130068737:ATAC-STARR-seq lymphoblastoid active region 29982 [Gene]
  • LOC130068738:ATAC-STARR-seq lymphoblastoid active region 29983 [Gene]
  • LOC130068741:ATAC-STARR-seq lymphoblastoid active region 29984 [Gene]
  • LOC130068742:ATAC-STARR-seq lymphoblastoid active region 29985 [Gene]
  • LOC130068743:ATAC-STARR-seq lymphoblastoid active region 29986 [Gene]
  • LOC130068744:ATAC-STARR-seq lymphoblastoid active region 29987 [Gene]
  • LOC130068747:ATAC-STARR-seq lymphoblastoid active region 29988 [Gene]
  • LOC130068750:ATAC-STARR-seq lymphoblastoid active region 29989 [Gene]
  • LOC130068751:ATAC-STARR-seq lymphoblastoid active region 29990 [Gene]
  • LOC130068752:ATAC-STARR-seq lymphoblastoid active region 29991 [Gene]
  • LOC130068754:ATAC-STARR-seq lymphoblastoid active region 29992 [Gene]
  • LOC130068755:ATAC-STARR-seq lymphoblastoid active region 29993 [Gene]
  • LOC130068756:ATAC-STARR-seq lymphoblastoid active region 29994 [Gene]
  • LOC130068759:ATAC-STARR-seq lymphoblastoid active region 29995 [Gene]
  • LOC130068760:ATAC-STARR-seq lymphoblastoid active region 29996 [Gene]
  • LOC130068761:ATAC-STARR-seq lymphoblastoid active region 29997 [Gene]
  • LOC130068762:ATAC-STARR-seq lymphoblastoid active region 30000 [Gene]
  • LOC130068763:ATAC-STARR-seq lymphoblastoid active region 30001 [Gene]
  • LOC130068764:ATAC-STARR-seq lymphoblastoid active region 30002 [Gene]
  • LOC130068765:ATAC-STARR-seq lymphoblastoid active region 30003 [Gene]
  • LOC130068771:ATAC-STARR-seq lymphoblastoid active region 30004 [Gene]
  • LOC130068772:ATAC-STARR-seq lymphoblastoid active region 30005 [Gene]
  • LOC130068582:ATAC-STARR-seq lymphoblastoid silent region 20950 [Gene]
  • LOC130068584:ATAC-STARR-seq lymphoblastoid silent region 20951 [Gene]
  • LOC130068585:ATAC-STARR-seq lymphoblastoid silent region 20952 [Gene]
  • LOC130068586:ATAC-STARR-seq lymphoblastoid silent region 20953 [Gene]
  • LOC130068587:ATAC-STARR-seq lymphoblastoid silent region 20954 [Gene]
  • LOC130068588:ATAC-STARR-seq lymphoblastoid silent region 20955 [Gene]
  • LOC130068589:ATAC-STARR-seq lymphoblastoid silent region 20956 [Gene]
  • LOC130068590:ATAC-STARR-seq lymphoblastoid silent region 20957 [Gene]
  • LOC130068591:ATAC-STARR-seq lymphoblastoid silent region 20958 [Gene]
  • LOC130068592:ATAC-STARR-seq lymphoblastoid silent region 20959 [Gene]
  • LOC130068596:ATAC-STARR-seq lymphoblastoid silent region 20961 [Gene]
  • LOC130068607:ATAC-STARR-seq lymphoblastoid silent region 20963 [Gene]
  • LOC130068609:ATAC-STARR-seq lymphoblastoid silent region 20964 [Gene]
  • LOC130068613:ATAC-STARR-seq lymphoblastoid silent region 20965 [Gene]
  • LOC130068614:ATAC-STARR-seq lymphoblastoid silent region 20966 [Gene]
  • LOC130068631:ATAC-STARR-seq lymphoblastoid silent region 20972 [Gene]
  • LOC130068634:ATAC-STARR-seq lymphoblastoid silent region 20975 [Gene]
  • LOC130068636:ATAC-STARR-seq lymphoblastoid silent region 20976 [Gene]
  • LOC130068637:ATAC-STARR-seq lymphoblastoid silent region 20977 [Gene]
  • LOC130068641:ATAC-STARR-seq lymphoblastoid silent region 20978 [Gene]
  • LOC130068654:ATAC-STARR-seq lymphoblastoid silent region 20979 [Gene]
  • LOC130068656:ATAC-STARR-seq lymphoblastoid silent region 20980 [Gene]
  • LOC130068657:ATAC-STARR-seq lymphoblastoid silent region 20981 [Gene]
  • LOC130068658:ATAC-STARR-seq lymphoblastoid silent region 20982 [Gene]
  • LOC130068659:ATAC-STARR-seq lymphoblastoid silent region 20983 [Gene]
  • LOC130068660:ATAC-STARR-seq lymphoblastoid silent region 20984 [Gene]
  • LOC130068661:ATAC-STARR-seq lymphoblastoid silent region 20985 [Gene]
  • LOC130068663:ATAC-STARR-seq lymphoblastoid silent region 20986 [Gene]
  • LOC130068664:ATAC-STARR-seq lymphoblastoid silent region 20987 [Gene]
  • LOC130068665:ATAC-STARR-seq lymphoblastoid silent region 20988 [Gene]
  • LOC130068671:ATAC-STARR-seq lymphoblastoid silent region 20989 [Gene]
  • LOC130068672:ATAC-STARR-seq lymphoblastoid silent region 20990 [Gene]
  • LOC130068673:ATAC-STARR-seq lymphoblastoid silent region 20991 [Gene]
  • LOC130068674:ATAC-STARR-seq lymphoblastoid silent region 20992 [Gene]
  • LOC130068675:ATAC-STARR-seq lymphoblastoid silent region 20993 [Gene]
  • LOC130068676:ATAC-STARR-seq lymphoblastoid silent region 20994 [Gene]
  • LOC130068678:ATAC-STARR-seq lymphoblastoid silent region 20995 [Gene]
  • LOC130068681:ATAC-STARR-seq lymphoblastoid silent region 20996 [Gene]
  • LOC130068682:ATAC-STARR-seq lymphoblastoid silent region 20997 [Gene]
  • LOC130068684:ATAC-STARR-seq lymphoblastoid silent region 20998 [Gene]
  • LOC130068690:ATAC-STARR-seq lymphoblastoid silent region 21000 [Gene]
  • LOC130068708:ATAC-STARR-seq lymphoblastoid silent region 21002 [Gene]
  • LOC130068711:ATAC-STARR-seq lymphoblastoid silent region 21004 [Gene]
  • LOC130068712:ATAC-STARR-seq lymphoblastoid silent region 21005 [Gene]
  • LOC130068713:ATAC-STARR-seq lymphoblastoid silent region 21006 [Gene]
  • LOC130068716:ATAC-STARR-seq lymphoblastoid silent region 21007 [Gene]
  • LOC129929046:ATAC-STARR-seq lymphoblastoid silent region 21008 [Gene]
  • LOC129929047:ATAC-STARR-seq lymphoblastoid silent region 21009 [Gene]
  • LOC130068721:ATAC-STARR-seq lymphoblastoid silent region 21010 [Gene]
  • LOC130068722:ATAC-STARR-seq lymphoblastoid silent region 21011 [Gene]
  • LOC130068723:ATAC-STARR-seq lymphoblastoid silent region 21012 [Gene]
  • LOC130068724:ATAC-STARR-seq lymphoblastoid silent region 21013 [Gene]
  • LOC130068725:ATAC-STARR-seq lymphoblastoid silent region 21014 [Gene]
  • LOC130068727:ATAC-STARR-seq lymphoblastoid silent region 21015 [Gene]
  • LOC130068728:ATAC-STARR-seq lymphoblastoid silent region 21016 [Gene]
  • LOC130068731:ATAC-STARR-seq lymphoblastoid silent region 21018 [Gene]
  • LOC130068733:ATAC-STARR-seq lymphoblastoid silent region 21019 [Gene]
  • LOC130068734:ATAC-STARR-seq lymphoblastoid silent region 21020 [Gene]
  • LOC130068735:ATAC-STARR-seq lymphoblastoid silent region 21021 [Gene]
  • LOC130068739:ATAC-STARR-seq lymphoblastoid silent region 21022 [Gene]
  • LOC130068740:ATAC-STARR-seq lymphoblastoid silent region 21023 [Gene]
  • LOC130068745:ATAC-STARR-seq lymphoblastoid silent region 21024 [Gene]
  • LOC130068746:ATAC-STARR-seq lymphoblastoid silent region 21025 [Gene]
  • LOC130068748:ATAC-STARR-seq lymphoblastoid silent region 21026 [Gene]
  • LOC130068749:ATAC-STARR-seq lymphoblastoid silent region 21027 [Gene]
  • LOC130068753:ATAC-STARR-seq lymphoblastoid silent region 21028 [Gene]
  • LOC130068757:ATAC-STARR-seq lymphoblastoid silent region 21029 [Gene]
  • LOC130068758:ATAC-STARR-seq lymphoblastoid silent region 21030 [Gene]
  • LOC130068766:ATAC-STARR-seq lymphoblastoid silent region 21033 [Gene]
  • LOC130068767:ATAC-STARR-seq lymphoblastoid silent region 21034 [Gene]
  • LOC130068768:ATAC-STARR-seq lymphoblastoid silent region 21035 [Gene]
  • LOC130068769:ATAC-STARR-seq lymphoblastoid silent region 21036 [Gene]
  • LOC130068770:ATAC-STARR-seq lymphoblastoid silent region 21037 [Gene]
  • LOC130068773:ATAC-STARR-seq lymphoblastoid silent region 21038 [Gene]
  • ATP1B4:ATPase Na+/K+ transporting family member beta 4 [Gene - OMIM - HGNC]
  • ATP11C:ATPase phospholipid transporting 11C [Gene - OMIM - HGNC]
  • BCORL1:BCL6 corepressor like 1 [Gene - OMIM - HGNC]
  • LOC126863311:BRD4-independent group 4 enhancer GRCh37_chrX:118902711-118903910 [Gene]
  • LOC126863320:BRD4-independent group 4 enhancer GRCh37_chrX:131423741-131424940 [Gene]
  • LOC126863322:BRD4-independent group 4 enhancer GRCh37_chrX:131844373-131845572 [Gene]
  • LOC126863327:BRD4-independent group 4 enhancer GRCh37_chrX:135225551-135226750 [Gene]
  • C1GALT1C1:C1GALT1 specific chaperone 1 [Gene - OMIM - HGNC]
  • CD40LG:CD40 ligand [Gene - OMIM - HGNC]
  • LOC126863309:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:118125886-118127085 [Gene]
  • LOC126863310:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:118174593-118175792 [Gene]
  • LOC126863313:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:119870341-119871540 [Gene]
  • LOC126863314:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:120331053-120332252 [Gene]
  • LOC126863316:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:123539864-123541063 [Gene]
  • LOC126863321:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:131625860-131627059 [Gene]
  • LOC126863324:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:134744552-134745751 [Gene]
  • LOC126863325:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:134987035-134988234 [Gene]
  • LOC126863326:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:135179522-135180721 [Gene]
  • LOC116309160:CRISPRi-validated cis-regulatory element chrX.2259 [Gene]
  • DCAF12L1:DDB1 and CUL4 associated factor 12 like 1 [Gene - HGNC]
  • DCAF12L2:DDB1 and CUL4 associated factor 12 like 2 [Gene - HGNC]
  • ELF4:E74 like ETS transcription factor 4 [Gene - OMIM - HGNC]
  • ENOX2-AS1:ENOX2 antisense RNA 1 [Gene - HGNC]
  • FRMD7:FERM domain containing 7 [Gene - OMIM - HGNC]
  • FGF13-AS1:FGF13 antisense RNA 1 [Gene - OMIM - HGNC]
  • GPR101:G protein-coupled receptor 101 [Gene - OMIM - HGNC]
  • GPR119:G protein-coupled receptor 119 [Gene - OMIM - HGNC]
  • LOC111464987:GATA motif-containing MPRA enhancer 234 [Gene]
  • GPC3-AS1:GPC3 antisense RNA 1 [Gene - HGNC]
  • HTATSF1:HIV-1 Tat specific factor 1 [Gene - OMIM - HGNC]
  • HS6ST2-AS1:HS6ST2 antisense RNA 1 [Gene - HGNC]
  • HAPSTR2:HUWE1 associated protein modifying stress responses 2 [Gene - HGNC]
  • INTS6L-AS1:INTS6L antisense RNA 1 [Gene - HGNC]
  • KIAA1210:KIAA1210 [Gene - OMIM - HGNC]
  • LONRF3:LON peptidase N-terminal domain and ring finger 3 [Gene - HGNC]
  • MAP7D3:MAP7 domain containing 3 [Gene - OMIM - HGNC]
  • MCF2:MCF.2 cell line derived transforming sequence [Gene - OMIM - HGNC]
  • MCTS1:MCTS1 re-initiation and release factor [Gene - OMIM - HGNC]
  • LOC126863312:MED14-independent group 3 enhancer GRCh37_chrX:119683276-119684475 [Gene]
  • LOC126863315:MED14-independent group 3 enhancer GRCh37_chrX:121371648-121372847 [Gene]
  • LOC126863317:MED14-independent group 3 enhancer GRCh37_chrX:129280263-129281462 [Gene]
  • LOC126863318:MED14-independent group 3 enhancer GRCh37_chrX:130218349-130219548 [Gene]
  • LOC126863319:MED14-independent group 3 enhancer GRCh37_chrX:131057048-131058247 [Gene]
  • LOC126863323:MED14-independent group 3 enhancer GRCh37_chrX:133737986-133739185 [Gene]
  • LOC126863329:MED14-independent group 3 enhancer GRCh37_chrX:135468612-135469811 [Gene]
  • LOC126863330:MED14-independent group 3 enhancer GRCh37_chrX:135956167-135957366 [Gene]
  • LOC126863331:MED14-independent group 3 enhancer GRCh37_chrX:137859976-137861175 [Gene]
  • MIR503HG:MIR503 host gene [Gene - HGNC]
  • LOC129391310:MPRA-validated peak7420 silencer [Gene]
  • LOC129391311:MPRA-validated peak7421 silencer [Gene]
  • LOC129391312:MPRA-validated peak7422 silencer [Gene]
  • LOC129391313:MPRA-validated peak7424 silencer [Gene]
  • LOC129391314:MPRA-validated peak7427 silencer [Gene]
  • LOC129391315:MPRA-validated peak7430 silencer [Gene]
  • LOC129391316:MPRA-validated peak7431 silencer [Gene]
  • NDUFA1:NADH:ubiquinone oxidoreductase subunit A1 [Gene - OMIM - HGNC]
  • LOC111429618:NFE2L2 motif-containing MPRA enhancer 215 [Gene]
  • NKAP:NFKB activating protein [Gene - OMIM - HGNC]
  • NKRF:NFKB repressing factor [Gene - OMIM - HGNC]
  • OCRL:OCRL inositol polyphosphate-5-phosphatase [Gene - OMIM - HGNC]
  • LOC126863328:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:135434931-135436130 [Gene]
  • PABIR2:PABIR family member 2 [Gene - HGNC]
  • PABIR3:PABIR family member 3 [Gene - HGNC]
  • PHF6:PHD finger protein 6 [Gene - OMIM - HGNC]
  • RAB33A:RAB33A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAP2C-AS1:RAP2C antisense RNA 1 [Gene - HGNC]
  • RAP2C:RAP2C, member of RAS oncogene family [Gene - OMIM - HGNC]
  • RHOXF1-AS1:RHOXF1 antisense RNA 1 [Gene - HGNC]
  • RBMX2:RNA binding motif protein X-linked 2 [Gene - HGNC]
  • RBMX:RNA binding motif protein X-linked [Gene - OMIM - HGNC]
  • ARHGEF6:Rac/Cdc42 guanine nucleotide exchange factor 6 [Gene - OMIM - HGNC]
  • ARHGAP36:Rho GTPase activating protein 36 [Gene - OMIM - HGNC]
  • RHOXF1:Rhox homeobox family member 1 [Gene - OMIM - HGNC]
  • RHOXF2:Rhox homeobox family member 2 [Gene - OMIM - HGNC]
  • RHOXF2B:Rhox homeobox family member 2B [Gene - HGNC]
  • SASH3:SAM and SH3 domain containing 3 [Gene - OMIM - HGNC]
  • SH2D1A:SH2 domain containing 1A [Gene - OMIM - HGNC]
  • SLC25A5-AS1:SLC25A5 antisense RNA 1 [Gene - HGNC]
  • SMIM10L2B-AS1:SMIM10L2B antisense RNA 1 [Gene - HGNC]
  • STAG2-AS1:STAG2 antisense RNA 1 [Gene - HGNC]
  • STAG2:STAG2 cohesin complex component [Gene - OMIM - HGNC]
  • STEEP1:STING1 ER exit protein 1 [Gene - OMIM - HGNC]
  • SMARCA1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 [Gene - OMIM - HGNC]
  • LOC113845788:Sharpr-MPRA regulatory region 11856 [Gene]
  • LOC121627977:Sharpr-MPRA regulatory region 12264 [Gene]
  • LOC125467779:Sharpr-MPRA regulatory region 12959 [Gene]
  • LOC121627981:Sharpr-MPRA regulatory region 13107 [Gene]
  • LOC125467776:Sharpr-MPRA regulatory region 13303 [Gene]
  • LOC125467778:Sharpr-MPRA regulatory region 13316 [Gene]
  • LOC121627980:Sharpr-MPRA regulatory region 13451 [Gene]
  • LOC113875012:Sharpr-MPRA regulatory region 13624 [Gene]
  • LOC113875008:Sharpr-MPRA regulatory region 13828 [Gene]
  • LOC113875009:Sharpr-MPRA regulatory region 14523 [Gene]
  • LOC125467789:Sharpr-MPRA regulatory region 14619 [Gene]
  • LOC125467781:Sharpr-MPRA regulatory region 15346 [Gene]
  • LOC121853067:Sharpr-MPRA regulatory region 1703 [Gene]
  • LOC125467787:Sharpr-MPRA regulatory region 1893 [Gene]
  • LOC125467783:Sharpr-MPRA regulatory region 3134 [Gene]
  • LOC121627979:Sharpr-MPRA regulatory region 3295 [Gene]
  • LOC125467777:Sharpr-MPRA regulatory region 3305 [Gene]
  • LOC121853068:Sharpr-MPRA regulatory region 3545 [Gene]
  • LOC113875011:Sharpr-MPRA regulatory region 4069 [Gene]
  • LOC113845786:Sharpr-MPRA regulatory region 4463 [Gene]
  • LOC113875007:Sharpr-MPRA regulatory region 4549 [Gene]
  • LOC113845787:Sharpr-MPRA regulatory region 5043 [Gene]
  • LOC113875010:Sharpr-MPRA regulatory region 5272 [Gene]
  • LOC121627978:Sharpr-MPRA regulatory region 5660 [Gene]
  • LOC125467785:Sharpr-MPRA regulatory region 650 [Gene]
  • LOC125467786:Sharpr-MPRA regulatory region 6850 [Gene]
  • LOC125467784:Sharpr-MPRA regulatory region 7036 [Gene]
  • LOC125467775:Sharpr-MPRA regulatory region 7314 [Gene]
  • LOC121853069:Sharpr-MPRA regulatory region 8062 [Gene]
  • LOC114022705:Sharpr-MPRA regulatory region 9216 [Gene]
  • LOC125467782:Sharpr-MPRA regulatory region 9263 [Gene]
  • TEX13C:TEX13 family member C [Gene - HGNC]
  • TEX13D:TEX13 family member D [Gene - HGNC]
  • THOC2:THO complex subunit 2 [Gene - OMIM - HGNC]
  • UPF3B:UPF3B regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
  • UTP14A:UTP14A small subunit processome component [Gene - OMIM - HGNC]
  • LOC110121198:VISTA enhancer hs1745 [Gene]
  • LOC110120680:VISTA enhancer hs427 [Gene]
  • LOC110120761:VISTA enhancer hs755 [Gene]
  • WDR44:WD repeat domain 44 [Gene - OMIM - HGNC]
  • XIAP:X-linked inhibitor of apoptosis [Gene - OMIM - HGNC]
  • XPNPEP2:X-prolyl aminopeptidase 2 [Gene - OMIM - HGNC]
  • ZIC3:Zic family member 3 [Gene - OMIM - HGNC]
  • ACTRT1:actin related protein T1 [Gene - OMIM - HGNC]
  • ADGRG4:adhesion G protein-coupled receptor G4 [Gene - OMIM - HGNC]
  • APLN:apelin [Gene - OMIM - HGNC]
  • AIFM1:apoptosis inducing factor mitochondria associated 1 [Gene - OMIM - HGNC]
  • BRS3:bombesin receptor subtype 3 [Gene - OMIM - HGNC]
  • CT55:cancer/testis antigen 55 [Gene - OMIM - HGNC]
  • CT45A10:cancer/testis antigen family 45 member A10 [Gene - HGNC]
  • CT45A1:cancer/testis antigen family 45 member A1 [Gene - OMIM - HGNC]
  • CT45A2:cancer/testis antigen family 45 member A2 [Gene - OMIM - HGNC]
  • CT45A3:cancer/testis antigen family 45 member A3 [Gene - OMIM - HGNC]
  • CT45A5:cancer/testis antigen family 45 member A5 [Gene - OMIM - HGNC]
  • CT45A6:cancer/testis antigen family 45 member A6 [Gene - OMIM - HGNC]
  • CT45A7:cancer/testis antigen family 45 member A7 [Gene - HGNC]
  • CT45A8:cancer/testis antigen family 45 member A8 [Gene - HGNC]
  • CT45A9:cancer/testis antigen family 45 member A9 [Gene - HGNC]
  • CT47A10:cancer/testis antigen family 47 member A10 [Gene - OMIM - HGNC]
  • CT47A11:cancer/testis antigen family 47 member A11 [Gene - OMIM - HGNC]
  • CT47A12:cancer/testis antigen family 47 member A12 [Gene - HGNC]
  • CT47A1:cancer/testis antigen family 47 member A1 [Gene - OMIM - HGNC]
  • CT47A2:cancer/testis antigen family 47 member A2 [Gene - OMIM - HGNC]
  • CT47A3:cancer/testis antigen family 47 member A3 [Gene - OMIM - HGNC]
  • CT47A4:cancer/testis antigen family 47 member A4 [Gene - OMIM - HGNC]
  • CT47A5:cancer/testis antigen family 47 member A5 [Gene - OMIM - HGNC]
  • CT47A6:cancer/testis antigen family 47 member A6 [Gene - OMIM - HGNC]
  • CT47A7:cancer/testis antigen family 47 member A7 [Gene - OMIM - HGNC]
  • CT47A8:cancer/testis antigen family 47 member A8 [Gene - OMIM - HGNC]
  • CT47A9:cancer/testis antigen family 47 member A9 [Gene - OMIM - HGNC]
  • CT47B1:cancer/testis antigen family 47 member B1 [Gene - OMIM - HGNC]
  • CT47C1:cancer/testis antigen family 47 member C1 [Gene - HGNC]
  • CXorf66:chromosome X open reading frame 66 [Gene - HGNC]
  • F9:coagulation factor IX [Gene - OMIM - HGNC]
  • CCDC160:coiled-coil domain containing 160 [Gene - HGNC]
  • CUL4B:cullin 4B [Gene - OMIM - HGNC]
  • DOCK11:dedicator of cytokinesis 11 [Gene - OMIM - HGNC]
  • ENOX2:ecto-NOX disulfide-thiol exchanger 2 [Gene - OMIM - HGNC]
  • ETDA:embryonic testis differentiation homolog A [Gene - HGNC]
  • ETDB:embryonic testis differentiation homolog B [Gene - HGNC]
  • ETDC:embryonic testis differentiation homolog C [Gene - HGNC]
  • FGF13:fibroblast growth factor 13 [Gene - OMIM - HGNC]
  • FIRRE:firre intergenic repeating RNA element [Gene - OMIM - HGNC]
  • FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]
  • GLUD2:glutamate dehydrogenase 2 [Gene - OMIM - HGNC]
  • GRIA3:glutamate ionotropic receptor AMPA type subunit 3 [Gene - OMIM - HGNC]
  • GPC3:glypican 3 [Gene - OMIM - HGNC]
  • GPC4:glypican 4 [Gene - OMIM - HGNC]
  • HS6ST2:heparan sulfate 6-O-sulfotransferase 2 [Gene - OMIM - HGNC]
  • HPRT1:hypoxanthine phosphoribosyltransferase 1 [Gene - OMIM - HGNC]
  • IGSF1:immunoglobulin superfamily member 1 [Gene - OMIM - HGNC]
  • INTS6L:integrator complex subunit 6 like [Gene - HGNC]
  • IL13RA1:interleukin 13 receptor subunit alpha 1 [Gene - OMIM - HGNC]
  • KLHL13:kelch like family member 13 [Gene - OMIM - HGNC]
  • LINC01201:long intergenic non-protein coding RNA 1201 [Gene - HGNC]
  • LINC01285:long intergenic non-protein coding RNA 1285 [Gene - HGNC]
  • LINC01402:long intergenic non-protein coding RNA 1402 [Gene - HGNC]
  • LINC02243:long intergenic non-protein coding RNA 2243 [Gene - HGNC]
  • LINC02931:long intergenic non-protein coding RNA 2931 [Gene - HGNC]
  • LINC03098:long intergenic non-protein coding RNA 3098 [Gene - HGNC]
  • LINC00629:long intergenic non-protein coding RNA 629 [Gene - HGNC]
  • LINC00892:long intergenic non-protein coding RNA 892 [Gene - HGNC]
  • LAMP2:lysosomal associated membrane protein 2 [Gene - OMIM - HGNC]
  • MMGT1:membrane magnesium transporter 1 [Gene - OMIM - HGNC]
  • MIR106A:microRNA 106a [Gene - OMIM - HGNC]
  • MIR1277:microRNA 1277 [Gene - HGNC]
  • MIR18B:microRNA 18b [Gene - HGNC]
  • MIR19B2:microRNA 19b-2 [Gene - OMIM - HGNC]
  • MIR20B:microRNA 20b [Gene - OMIM - HGNC]
  • MIR363:microRNA 363 [Gene - HGNC]
  • MIR3672:microRNA 3672 [Gene - HGNC]
  • MIR424:microRNA 424 [Gene - OMIM - HGNC]
  • MIR450A1:microRNA 450a-1 [Gene - HGNC]
  • MIR450A2:microRNA 450a-2 [Gene - HGNC]
  • MIR450B:microRNA 450b [Gene - HGNC]
  • MIR503:microRNA 503 [Gene - OMIM - HGNC]
  • MIR504:microRNA 504 [Gene - HGNC]
  • MIR505:microRNA 505 [Gene - OMIM - HGNC]
  • MIR542:microRNA 542 [Gene - HGNC]
  • MIR766:microRNA 766 [Gene - OMIM - HGNC]
  • MIR92A2:microRNA 92a-2 [Gene - OMIM - HGNC]
  • MIR934:microRNA 934 [Gene - HGNC]
  • MOSPD1:motile sperm domain containing 1 [Gene - OMIM - HGNC]
  • MBNL3:muscleblind like splicing regulator 3 [Gene - OMIM - HGNC]
  • OR13H1:olfactory receptor family 13 subfamily H member 1 [Gene - HGNC]
  • LOC107032760:origin of replication in promoter/intron 1 of HPRT1 [Gene]
  • PLAC1:placenta enriched 1 [Gene - OMIM - HGNC]
  • PGRMC1:progesterone receptor membrane component 1 [Gene - OMIM - HGNC]
  • PRR32:proline rich 32 [Gene - HGNC]
  • RTL8A:retrotransposon Gag like 8A [Gene - HGNC]
  • RTL8B:retrotransposon Gag like 8B [Gene - HGNC]
  • RTL8C:retrotransposon Gag like 8C [Gene - OMIM - HGNC]
  • RPL39:ribosomal protein L39 [Gene - OMIM - HGNC]
  • RNF113A:ring finger protein 113A [Gene - OMIM - HGNC]
  • SAGE1:sarcoma antigen 1 [Gene - OMIM - HGNC]
  • SEPTIN6:septin 6 [Gene - OMIM - HGNC]
  • STK26:serine/threonine kinase 26 [Gene - OMIM - HGNC]
  • SMIM10L2A:small integral membrane protein 10 like 2A [Gene - HGNC]
  • SMIM10L2B:small integral membrane protein 10 like 2B [Gene - HGNC]
  • SMIM10:small integral membrane protein 10 [Gene - HGNC]
  • SNORD61:small nucleolar RNA, C/D box 61 [Gene - HGNC]
  • SNORA69:small nucleolar RNA, H/ACA box 69 [Gene - HGNC]
  • SLC25A14:solute carrier family 25 member 14 [Gene - OMIM - HGNC]
  • SLC25A43:solute carrier family 25 member 43 [Gene - OMIM - HGNC]
  • SLC25A5:solute carrier family 25 member 5 [Gene - OMIM - HGNC]
  • SLC9A6:solute carrier family 9 member A6 [Gene - OMIM - HGNC]
  • SOWAHD:sosondowah ankyrin repeat domain family member D [Gene - HGNC]
  • TENM1:teneurin transmembrane protein 1 [Gene - OMIM - HGNC]
  • TFDP3:transcription factor Dp family member 3 [Gene - OMIM - HGNC]
  • TMEM255A:transmembrane protein 255A [Gene - HGNC]
  • UBE2A:ubiquitin conjugating enzyme E2 A [Gene - OMIM - HGNC]
  • USP26:ubiquitin specific peptidase 26 [Gene - OMIM - HGNC]
  • LOC100506790:uncharacterized LOC100506790 [Gene]
  • LOC101928495:uncharacterized LOC101928495 [Gene]
  • LOC105373335:uncharacterized LOC105373335 [Gene]
  • LOC728660:uncharacterized LOC728660 [Gene]
  • VGLL1:vestigial like family member 1 [Gene - OMIM - HGNC]
  • ZCCHC12:zinc finger CCHC-type containing 12 [Gene - OMIM - HGNC]
  • ZDHHC9:zinc finger DHHC-type palmitoyltransferase 9 [Gene - OMIM - HGNC]
  • ZBTB33:zinc finger and BTB domain containing 33 [Gene - OMIM - HGNC]
  • ZNF280C:zinc finger protein 280C [Gene - HGNC]
  • ZNF449:zinc finger protein 449 [Gene - OMIM - HGNC]
  • ZNF75D:zinc finger protein 75D [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xq23-27.1
Genomic location:
Preferred name:
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3
HGVS:
  • NC_000023.11:g.(?_117260292)_(140201321_?)dup
  • NC_000023.10:g.(?_116394255)_(139283477_?)dup
  • NC_000023.9:g.(?_116278283)_(139111143_?)dup
Links:
dbVar: nssv1495141; dbVar: nsv869343
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000178411ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Feb 10, 2012) 		not providedclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000178411.4

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

Last Updated: Oct 14, 2023