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GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 23, 2013
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:
RCV000133725.6

Allele description [Variation Report for GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3]

GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3

Genes:
  • AFF2:ALF transcription elongation factor 2 [Gene - OMIM - HGNC]
  • LOC129929048:ATAC-STARR-seq lymphoblastoid active region 30006 [Gene]
  • LOC129929049:ATAC-STARR-seq lymphoblastoid active region 30007 [Gene]
  • LOC130068774:ATAC-STARR-seq lymphoblastoid active region 30008 [Gene]
  • LOC130068775:ATAC-STARR-seq lymphoblastoid active region 30009 [Gene]
  • LOC130068776:ATAC-STARR-seq lymphoblastoid active region 30010 [Gene]
  • LOC130068777:ATAC-STARR-seq lymphoblastoid active region 30011 [Gene]
  • LOC130068778:ATAC-STARR-seq lymphoblastoid active region 30012 [Gene]
  • LOC130068779:ATAC-STARR-seq lymphoblastoid active region 30013 [Gene]
  • LOC130068780:ATAC-STARR-seq lymphoblastoid active region 30014 [Gene]
  • LOC130068781:ATAC-STARR-seq lymphoblastoid active region 30015 [Gene]
  • LOC130068785:ATAC-STARR-seq lymphoblastoid active region 30016 [Gene]
  • LOC130068788:ATAC-STARR-seq lymphoblastoid active region 30017 [Gene]
  • LOC130068789:ATAC-STARR-seq lymphoblastoid active region 30018 [Gene]
  • LOC130068790:ATAC-STARR-seq lymphoblastoid active region 30019 [Gene]
  • LOC130068791:ATAC-STARR-seq lymphoblastoid active region 30020 [Gene]
  • LOC130068797:ATAC-STARR-seq lymphoblastoid active region 30021 [Gene]
  • LOC130068798:ATAC-STARR-seq lymphoblastoid active region 30022 [Gene]
  • LOC130068801:ATAC-STARR-seq lymphoblastoid active region 30023 [Gene]
  • LOC130068802:ATAC-STARR-seq lymphoblastoid active region 30024 [Gene]
  • LOC130068804:ATAC-STARR-seq lymphoblastoid active region 30025 [Gene]
  • LOC130068808:ATAC-STARR-seq lymphoblastoid active region 30026 [Gene]
  • LOC130068809:ATAC-STARR-seq lymphoblastoid active region 30027 [Gene]
  • LOC130068812:ATAC-STARR-seq lymphoblastoid active region 30028 [Gene]
  • LOC130068813:ATAC-STARR-seq lymphoblastoid active region 30029 [Gene]
  • LOC130068814:ATAC-STARR-seq lymphoblastoid active region 30030 [Gene]
  • LOC130068815:ATAC-STARR-seq lymphoblastoid active region 30031 [Gene]
  • LOC130068816:ATAC-STARR-seq lymphoblastoid active region 30032 [Gene]
  • LOC130068821:ATAC-STARR-seq lymphoblastoid active region 30033 [Gene]
  • LOC130068822:ATAC-STARR-seq lymphoblastoid active region 30034 [Gene]
  • LOC130068823:ATAC-STARR-seq lymphoblastoid active region 30035 [Gene]
  • LOC130068824:ATAC-STARR-seq lymphoblastoid active region 30036 [Gene]
  • LOC130068832:ATAC-STARR-seq lymphoblastoid active region 30037 [Gene]
  • LOC130068833:ATAC-STARR-seq lymphoblastoid active region 30038 [Gene]
  • LOC130068834:ATAC-STARR-seq lymphoblastoid active region 30039 [Gene]
  • LOC130068836:ATAC-STARR-seq lymphoblastoid active region 30041 [Gene]
  • LOC130068837:ATAC-STARR-seq lymphoblastoid active region 30042 [Gene]
  • LOC130068841:ATAC-STARR-seq lymphoblastoid active region 30043 [Gene]
  • LOC130068842:ATAC-STARR-seq lymphoblastoid active region 30044 [Gene]
  • LOC130068843:ATAC-STARR-seq lymphoblastoid active region 30045 [Gene]
  • LOC130068847:ATAC-STARR-seq lymphoblastoid active region 30047 [Gene]
  • LOC130068848:ATAC-STARR-seq lymphoblastoid active region 30048 [Gene]
  • LOC130068851:ATAC-STARR-seq lymphoblastoid active region 30052 [Gene]
  • LOC130068852:ATAC-STARR-seq lymphoblastoid active region 30053 [Gene]
  • LOC130068855:ATAC-STARR-seq lymphoblastoid active region 30055 [Gene]
  • LOC129929050:ATAC-STARR-seq lymphoblastoid active region 30056 [Gene]
  • LOC129929051:ATAC-STARR-seq lymphoblastoid active region 30057 [Gene]
  • LOC130068859:ATAC-STARR-seq lymphoblastoid active region 30059 [Gene]
  • LOC130068867:ATAC-STARR-seq lymphoblastoid active region 30060 [Gene]
  • LOC130068868:ATAC-STARR-seq lymphoblastoid active region 30061 [Gene]
  • LOC130068872:ATAC-STARR-seq lymphoblastoid active region 30062 [Gene]
  • LOC130068877:ATAC-STARR-seq lymphoblastoid active region 30063 [Gene]
  • LOC130068878:ATAC-STARR-seq lymphoblastoid active region 30064 [Gene]
  • LOC130068880:ATAC-STARR-seq lymphoblastoid active region 30065 [Gene]
  • LOC130068881:ATAC-STARR-seq lymphoblastoid active region 30067 [Gene]
  • LOC130068885:ATAC-STARR-seq lymphoblastoid active region 30068 [Gene]
  • LOC130068887:ATAC-STARR-seq lymphoblastoid active region 30069 [Gene]
  • LOC130068889:ATAC-STARR-seq lymphoblastoid active region 30070 [Gene]
  • LOC130068890:ATAC-STARR-seq lymphoblastoid active region 30071 [Gene]
  • LOC130068891:ATAC-STARR-seq lymphoblastoid active region 30072 [Gene]
  • LOC130068892:ATAC-STARR-seq lymphoblastoid active region 30073 [Gene]
  • LOC130068895:ATAC-STARR-seq lymphoblastoid active region 30074 [Gene]
  • LOC129929053:ATAC-STARR-seq lymphoblastoid silent region 21039 [Gene]
  • LOC130068782:ATAC-STARR-seq lymphoblastoid silent region 21041 [Gene]
  • LOC130068783:ATAC-STARR-seq lymphoblastoid silent region 21042 [Gene]
  • LOC130068784:ATAC-STARR-seq lymphoblastoid silent region 21043 [Gene]
  • LOC130068786:ATAC-STARR-seq lymphoblastoid silent region 21044 [Gene]
  • LOC130068787:ATAC-STARR-seq lymphoblastoid silent region 21045 [Gene]
  • LOC130068792:ATAC-STARR-seq lymphoblastoid silent region 21046 [Gene]
  • LOC130068793:ATAC-STARR-seq lymphoblastoid silent region 21047 [Gene]
  • LOC130068794:ATAC-STARR-seq lymphoblastoid silent region 21048 [Gene]
  • LOC130068795:ATAC-STARR-seq lymphoblastoid silent region 21049 [Gene]
  • LOC130068796:ATAC-STARR-seq lymphoblastoid silent region 21050 [Gene]
  • LOC130068799:ATAC-STARR-seq lymphoblastoid silent region 21051 [Gene]
  • LOC130068800:ATAC-STARR-seq lymphoblastoid silent region 21052 [Gene]
  • LOC130068803:ATAC-STARR-seq lymphoblastoid silent region 21053 [Gene]
  • LOC130068805:ATAC-STARR-seq lymphoblastoid silent region 21054 [Gene]
  • LOC130068806:ATAC-STARR-seq lymphoblastoid silent region 21055 [Gene]
  • LOC130068807:ATAC-STARR-seq lymphoblastoid silent region 21056 [Gene]
  • LOC130068810:ATAC-STARR-seq lymphoblastoid silent region 21057 [Gene]
  • LOC130068811:ATAC-STARR-seq lymphoblastoid silent region 21058 [Gene]
  • LOC130068817:ATAC-STARR-seq lymphoblastoid silent region 21059 [Gene]
  • LOC130068818:ATAC-STARR-seq lymphoblastoid silent region 21060 [Gene]
  • LOC130068819:ATAC-STARR-seq lymphoblastoid silent region 21061 [Gene]
  • LOC130068820:ATAC-STARR-seq lymphoblastoid silent region 21062 [Gene]
  • LOC130068825:ATAC-STARR-seq lymphoblastoid silent region 21064 [Gene]
  • LOC130068826:ATAC-STARR-seq lymphoblastoid silent region 21065 [Gene]
  • LOC130068827:ATAC-STARR-seq lymphoblastoid silent region 21066 [Gene]
  • LOC130068828:ATAC-STARR-seq lymphoblastoid silent region 21067 [Gene]
  • LOC130068829:ATAC-STARR-seq lymphoblastoid silent region 21068 [Gene]
  • LOC130068830:ATAC-STARR-seq lymphoblastoid silent region 21069 [Gene]
  • LOC130068831:ATAC-STARR-seq lymphoblastoid silent region 21070 [Gene]
  • LOC130068835:ATAC-STARR-seq lymphoblastoid silent region 21072 [Gene]
  • LOC130068838:ATAC-STARR-seq lymphoblastoid silent region 21073 [Gene]
  • LOC130068839:ATAC-STARR-seq lymphoblastoid silent region 21074 [Gene]
  • LOC130068840:ATAC-STARR-seq lymphoblastoid silent region 21075 [Gene]
  • LOC130068844:ATAC-STARR-seq lymphoblastoid silent region 21077 [Gene]
  • LOC130068845:ATAC-STARR-seq lymphoblastoid silent region 21078 [Gene]
  • LOC130068846:ATAC-STARR-seq lymphoblastoid silent region 21079 [Gene]
  • LOC130068849:ATAC-STARR-seq lymphoblastoid silent region 21080 [Gene]
  • LOC130068850:ATAC-STARR-seq lymphoblastoid silent region 21081 [Gene]
  • LOC130068853:ATAC-STARR-seq lymphoblastoid silent region 21083 [Gene]
  • LOC130068854:ATAC-STARR-seq lymphoblastoid silent region 21085 [Gene]
  • LOC130068856:ATAC-STARR-seq lymphoblastoid silent region 21086 [Gene]
  • LOC130068857:ATAC-STARR-seq lymphoblastoid silent region 21087 [Gene]
  • LOC130068858:ATAC-STARR-seq lymphoblastoid silent region 21093 [Gene]
  • LOC130068860:ATAC-STARR-seq lymphoblastoid silent region 21094 [Gene]
  • LOC130068861:ATAC-STARR-seq lymphoblastoid silent region 21095 [Gene]
  • LOC130068862:ATAC-STARR-seq lymphoblastoid silent region 21096 [Gene]
  • LOC130068863:ATAC-STARR-seq lymphoblastoid silent region 21097 [Gene]
  • LOC130068864:ATAC-STARR-seq lymphoblastoid silent region 21098 [Gene]
  • LOC130068865:ATAC-STARR-seq lymphoblastoid silent region 21099 [Gene]
  • LOC130068866:ATAC-STARR-seq lymphoblastoid silent region 21100 [Gene]
  • LOC130068869:ATAC-STARR-seq lymphoblastoid silent region 21101 [Gene]
  • LOC130068870:ATAC-STARR-seq lymphoblastoid silent region 21104 [Gene]
  • LOC130068871:ATAC-STARR-seq lymphoblastoid silent region 21105 [Gene]
  • LOC130068873:ATAC-STARR-seq lymphoblastoid silent region 21106 [Gene]
  • LOC130068874:ATAC-STARR-seq lymphoblastoid silent region 21107 [Gene]
  • LOC130068875:ATAC-STARR-seq lymphoblastoid silent region 21108 [Gene]
  • LOC130068876:ATAC-STARR-seq lymphoblastoid silent region 21109 [Gene]
  • LOC130068879:ATAC-STARR-seq lymphoblastoid silent region 21112 [Gene]
  • LOC129929052:ATAC-STARR-seq lymphoblastoid silent region 21114 [Gene]
  • LOC130068882:ATAC-STARR-seq lymphoblastoid silent region 21115 [Gene]
  • LOC130068883:ATAC-STARR-seq lymphoblastoid silent region 21116 [Gene]
  • LOC130068884:ATAC-STARR-seq lymphoblastoid silent region 21117 [Gene]
  • LOC130068886:ATAC-STARR-seq lymphoblastoid silent region 21118 [Gene]
  • LOC130068888:ATAC-STARR-seq lymphoblastoid silent region 21119 [Gene]
  • LOC130068893:ATAC-STARR-seq lymphoblastoid silent region 21120 [Gene]
  • LOC130068894:ATAC-STARR-seq lymphoblastoid silent region 21121 [Gene]
  • LOC130068896:ATAC-STARR-seq lymphoblastoid silent region 21124 [Gene]
  • LOC130068897:ATAC-STARR-seq lymphoblastoid silent region 21125 [Gene]
  • ABCD1:ATP binding cassette subfamily D member 1 [Gene - OMIM - HGNC]
  • ATP6AP1-DT:ATP6AP1 divergent transcript [Gene - HGNC]
  • ATP6AP1:ATPase H+ transporting accessory protein 1 [Gene - OMIM - HGNC]
  • ATP2B3:ATPase plasma membrane Ca2+ transporting 3 [Gene - OMIM - HGNC]
  • BCAP31:B cell receptor associated protein 31 [Gene - OMIM - HGNC]
  • BRCC3:BRCA1/BRCA2-containing complex subunit 3 [Gene - OMIM - HGNC]
  • CMC4:C-X9-C motif containing 4 [Gene - OMIM - HGNC]
  • CD99L2:CD99 molecule like 2 [Gene - OMIM - HGNC]
  • LOC126863342:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:148591963-148593162 [Gene]
  • LOC126863344:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:151297273-151298472 [Gene]
  • LOC126863346:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:151902449-151903648 [Gene]
  • LOC116309161:CRISPRi-validated cis-regulatory element chrX.2654 [Gene]
  • LOC116309162:CRISPRi-validated cis-regulatory element chrX.2695 [Gene]
  • CSAG2:CSAG family member 2 [Gene - OMIM - HGNC]
  • CSAG3:CSAG family member 3 [Gene - OMIM - HGNC]
  • EOLA1-DT:EOLA1 divergent transcript [Gene - HGNC]
  • EOLA2-DT:EOLA2 divergent transcript [Gene - HGNC]
  • FAM3A:FAM3 metabolism regulating signaling molecule A [Gene - OMIM - HGNC]
  • FMR1-AS1:FMR1 antisense RNA 1 [Gene - OMIM - HGNC]
  • FMR1NB:FMR1 neighbor [Gene - HGNC]
  • LOC109396974:FRAXF repeat instability region [Gene]
  • FUNDC2:FUN14 domain containing 2 [Gene - OMIM - HGNC]
  • GPR50:G protein-coupled receptor 50 [Gene - OMIM - HGNC]
  • LOC108281126:G6PD and IKBKG intron CAGE-defined low expression enhancer [Gene]
  • GDI1:GDP dissociation inhibitor 1 [Gene - OMIM - HGNC]
  • GPR50-AS1:GPR50 antisense RNA 1 [Gene - HGNC]
  • GAB3:GRB2 associated binding protein 3 [Gene - OMIM - HGNC]
  • H2AB1:H2A.B variant histone 1 [Gene - OMIM - HGNC]
  • H2AB2:H2A.B variant histone 2 [Gene - OMIM - HGNC]
  • HAUS7:HAUS augmin like complex subunit 7 [Gene - OMIM - HGNC]
  • HCFC1-AS1:HCFC1 antisense RNA 1 [Gene - HGNC]
  • LOC111589209:HNF4 motif-containing MPRA enhancer 232 [Gene]
  • LOC106050102:IDS recombination region [Gene]
  • LOC106050103:IDSP1 recombination region [Gene]
  • LOC107988022:IKBKG downstream recombination region [Gene]
  • LOC107988021:IKBKG recombination region [Gene]
  • LOC107988024:IKBKGP1 recombination region [Gene]
  • LOC107988025:IKBKGP1 upstream recombination region [Gene]
  • LAGE3:L antigen family member 3 [Gene - OMIM - HGNC]
  • L1CAM:L1 cell adhesion molecule [Gene - OMIM - HGNC]
  • L1CAM-AS1:L1CAM antisense RNA 1 [Gene - HGNC]
  • MAGEA10:MAGE family member A10 [Gene - OMIM - HGNC]
  • MAGEA11:MAGE family member A11 [Gene - OMIM - HGNC]
  • MAGEA12:MAGE family member A12 [Gene - OMIM - HGNC]
  • MAGEA1:MAGE family member A1 [Gene - OMIM - HGNC]
  • MAGEA2:MAGE family member A2 [Gene - OMIM - HGNC]
  • MAGEA2B:MAGE family member A2B [Gene - OMIM - HGNC]
  • MAGEA3:MAGE family member A3 [Gene - OMIM - HGNC]
  • MAGEA4:MAGE family member A4 [Gene - OMIM - HGNC]
  • MAGEA6:MAGE family member A6 [Gene - OMIM - HGNC]
  • MAGEA8:MAGE family member A8 [Gene - OMIM - HGNC]
  • MAGEA9:MAGE family member A9 [Gene - OMIM - HGNC]
  • MAGEA9B:MAGE family member A9B [Gene - OMIM - HGNC]
  • LOC100533997:MAGEA10-MAGEA5 readthrough [Gene]
  • MAGEA4-AS1:MAGEA4 antisense RNA 1 [Gene - HGNC]
  • MAGEA8-AS1:MAGEA8 antisense RNA 1 [Gene - HGNC]
  • MPP1:MAGUK p55 scaffold protein 1 [Gene - OMIM - HGNC]
  • LOC126863338:MED14-independent group 3 enhancer GRCh37_chrX:144556098-144557297 [Gene]
  • LOC126863339:MED14-independent group 3 enhancer GRCh37_chrX:144939449-144940648 [Gene]
  • LOC126863341:MED14-independent group 3 enhancer GRCh37_chrX:147636485-147637684 [Gene]
  • LOC126863343:MED14-independent group 3 enhancer GRCh37_chrX:150585487-150586686 [Gene]
  • LOC126863345:MED14-independent group 3 enhancer GRCh37_chrX:151599729-151600928 [Gene]
  • LOC129391317:MPRA-validated peak7436 silencer [Gene]
  • LOC129391318:MPRA-validated peak7437 silencer [Gene]
  • NAA10:N-alpha-acetyltransferase 10, NatA catalytic subunit [Gene - OMIM - HGNC]
  • NSDHL:NAD(P) dependent steroid dehydrogenase-like [Gene - OMIM - HGNC]
  • LOC111365170:NFE2L2 motif-containing MPRA enhancer 190/191 [Gene]
  • LOC126863337:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:143882879-143884078 [Gene]
  • LOC126863340:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:146645835-146647034 [Gene]
  • LOC126863347:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:151987738-151988937 [Gene]
  • LOC126863349:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:154195537-154196736 [Gene]
  • PASD1:PAS domain containing repressor 1 [Gene - OMIM - HGNC]
  • PDZD4:PDZ domain containing 4 [Gene - OMIM - HGNC]
  • PLXNB3-AS1:PLXNB3 antisense RNA 1 [Gene - HGNC]
  • PNMA3:PNMA family member 3 [Gene - OMIM - HGNC]
  • PNMA5:PNMA family member 5 [Gene - OMIM - HGNC]
  • PNMA6A:PNMA family member 6A [Gene - OMIM - HGNC]
  • PNMA6E:PNMA family member 6E [Gene - HGNC]
  • PNMA6F:PNMA family member 6F [Gene - HGNC]
  • PWWP4:PWWP domain containing 4 [Gene - HGNC]
  • RAB39B:RAB39B, member RAS oncogene family [Gene - OMIM - HGNC]
  • ARHGAP4:Rho GTPase activating protein 4 [Gene - OMIM - HGNC]
  • SLITRK2:SLIT and NTRK like family member 2 [Gene - OMIM - HGNC]
  • SPANXN1:SPANX family member N1 [Gene - OMIM - HGNC]
  • SRPK3:SRSF protein kinase 3 [Gene - OMIM - HGNC]
  • LOC121627985:Sharpr-MPRA regulatory region 11639 [Gene]
  • LOC113875015:Sharpr-MPRA regulatory region 12525 [Gene]
  • LOC125467792:Sharpr-MPRA regulatory region 13180 [Gene]
  • LOC125467794:Sharpr-MPRA regulatory region 13577 [Gene]
  • LOC121627983:Sharpr-MPRA regulatory region 15241 [Gene]
  • LOC121853072:Sharpr-MPRA regulatory region 3405 [Gene]
  • LOC121627986:Sharpr-MPRA regulatory region 3530 [Gene]
  • LOC125467793:Sharpr-MPRA regulatory region 3572 [Gene]
  • LOC125467795:Sharpr-MPRA regulatory region 4209 [Gene]
  • LOC121853070:Sharpr-MPRA regulatory region 4725 [Gene]
  • LOC125467791:Sharpr-MPRA regulatory region 4801 [Gene]
  • LOC121853071:Sharpr-MPRA regulatory region 5891 [Gene]
  • LOC125467790:Sharpr-MPRA regulatory region 6851 [Gene]
  • LOC113875016:Sharpr-MPRA regulatory region 7862 [Gene]
  • LOC113875014:Sharpr-MPRA regulatory region 9358 [Gene]
  • VBP1:VHL binding protein 1 [Gene - OMIM - HGNC]
  • LOC110121199:VISTA enhancer hs1746 [Gene]
  • LOC107988033:Xq28 distal FLNA-EMD recombination region [Gene]
  • LOC107988032:Xq28 proximal FLNA-EMD recombination region [Gene]
  • ZFP92:ZFP92 zinc finger protein [Gene - HGNC]
  • AVPR2:arginine vasopressin receptor 2 [Gene - OMIM - HGNC]
  • BGN:biglycan [Gene - OMIM - HGNC]
  • CTAG1A:cancer/testis antigen 1A [Gene - OMIM - HGNC]
  • CTAG1B:cancer/testis antigen 1B [Gene - OMIM - HGNC]
  • CTAG2:cancer/testis antigen 2 [Gene - OMIM - HGNC]
  • CETN2:centrin 2 [Gene - OMIM - HGNC]
  • CLIC2:chloride intracellular channel 2 [Gene - OMIM - HGNC]
  • CSAG1:chondrosarcoma associated gene 1 [Gene - OMIM - HGNC]
  • CXorf51A:chromosome X open reading frame 51A [Gene - HGNC]
  • CXorf51B:chromosome X open reading frame 51B [Gene - HGNC]
  • F8A1:coagulation factor VIII associated 1 [Gene - OMIM - HGNC]
  • F8A2:coagulation factor VIII associated 2 [Gene - HGNC]
  • F8:coagulation factor VIII [Gene - OMIM - HGNC]
  • CNGA2:cyclic nucleotide gated channel subunit alpha 2 [Gene - OMIM - HGNC]
  • CCNQ:cyclin Q [Gene - OMIM - HGNC]
  • DNASE1L1:deoxyribonuclease 1 like 1 [Gene - OMIM - HGNC]
  • DUSP9:dual specificity phosphatase 9 [Gene - OMIM - HGNC]
  • DKC1:dyskerin pseudouridine synthase 1 [Gene - OMIM - HGNC]
  • EMD:emerin [Gene - OMIM - HGNC]
  • EOLA1:endothelium and lymphocyte associated ASCH domain 1 [Gene - OMIM - HGNC]
  • EOLA2:endothelium and lymphocyte associated ASCH domain 2 [Gene - HGNC]
  • FAM223A:family with sequence similarity 223 member A [Gene - HGNC]
  • FAM223B:family with sequence similarity 223 member B [Gene - HGNC]
  • FAM50A:family with sequence similarity 50 member A [Gene - OMIM - HGNC]
  • FATE1:fetal and adult testis expressed 1 [Gene - OMIM - HGNC]
  • FLNA:filamin A [Gene - OMIM - HGNC]
  • FMR1:fragile X messenger ribonucleoprotein 1 [Gene - OMIM - HGNC]
  • FRAXA:fragile site, folic acid type, rare, fra(X)(q27.3) A [Gene - HGNC]
  • FRAXE:fragile site, folic acid type, rare, fra(X)(q28) E [Gene - HGNC]
  • GABRA3:gamma-aminobutyric acid type A receptor subunit alpha3 [Gene - OMIM - HGNC]
  • GABRE:gamma-aminobutyric acid type A receptor subunit epsilon [Gene - OMIM - HGNC]
  • GABRQ:gamma-aminobutyric acid type A receptor subunit theta [Gene - OMIM - HGNC]
  • G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]
  • HSFX1:heat shock transcription factor family, X-linked 1 [Gene - HGNC]
  • HSFX2:heat shock transcription factor family, X-linked 2 [Gene - HGNC]
  • HSFX3:heat shock transcription factor family, X-linked member 3 [Gene - HGNC]
  • HSFX4:heat shock transcription factor family, X-linked member 4 [Gene - HGNC]
  • HMGB3:high mobility group box 3 [Gene - OMIM - HGNC]
  • HCFC1:host cell factor C1 [Gene - OMIM - HGNC]
  • IDS:iduronate 2-sulfatase [Gene - OMIM - HGNC]
  • IKBKG:inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [Gene - OMIM - HGNC]
  • LOC106146143:int1h-1 recombination region [Gene]
  • LOC106146144:int1h-2 recombination region [Gene]
  • LOC106146150:int22h-1 recombination region [Gene]
  • LOC106146151:int22h-2 recombination region [Gene]
  • IRAK1:interleukin 1 receptor associated kinase 1 [Gene - OMIM - HGNC]
  • IDH3G:isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma [Gene - OMIM - HGNC]
  • LINC02927:long intergenic non-protein coding RNA 2927 [Gene - HGNC]
  • LINC00850:long intergenic non-protein coding RNA 850 [Gene - OMIM - HGNC]
  • MAMLD1:mastermind like domain containing 1 [Gene - OMIM - HGNC]
  • MTCP1:mature T cell proliferation 1 [Gene - OMIM - HGNC]
  • MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
  • MIR105-1:microRNA 105-1 [Gene - OMIM - HGNC]
  • MIR105-2:microRNA 105-2 [Gene - OMIM - HGNC]
  • MIR1184-1:microRNA 1184-1 [Gene - HGNC]
  • MIR1184-2:microRNA 1184-2 [Gene - HGNC]
  • MIR12129:microRNA 12129 [Gene - HGNC]
  • MIR2114:microRNA 2114 [Gene - HGNC]
  • MIR224:microRNA 224 [Gene - OMIM - HGNC]
  • MIR3202-1:microRNA 3202-1 [Gene - HGNC]
  • MIR3202-2:microRNA 3202-2 [Gene - HGNC]
  • MIR4330:microRNA 4330 [Gene - HGNC]
  • MIR452:microRNA 452 [Gene - HGNC]
  • MIR506:microRNA 506 [Gene - OMIM - HGNC]
  • MIR507:microRNA 507 [Gene - HGNC]
  • MIR508:microRNA 508 [Gene - OMIM - HGNC]
  • MIR509-1:microRNA 509-1 [Gene - OMIM - HGNC]
  • MIR509-2:microRNA 509-2 [Gene - HGNC]
  • MIR509-3:microRNA 509-3 [Gene - OMIM - HGNC]
  • MIR510:microRNA 510 [Gene - OMIM - HGNC]
  • MIR513A1:microRNA 513a-1 [Gene - HGNC]
  • MIR513A2:microRNA 513a-2 [Gene - HGNC]
  • MIR513B:microRNA 513b [Gene - HGNC]
  • MIR513C:microRNA 513c [Gene - HGNC]
  • MIR514A1:microRNA 514a-1 [Gene - HGNC]
  • MIR514A2:microRNA 514a-2 [Gene - HGNC]
  • MIR514A3:microRNA 514a-3 [Gene - HGNC]
  • MIR514B:microRNA 514b [Gene - HGNC]
  • MIR664B:microRNA 664b [Gene - HGNC]
  • MIR6858:microRNA 6858 [Gene - HGNC]
  • MIR718:microRNA 718 [Gene - OMIM - HGNC]
  • MIR767:microRNA 767 [Gene - HGNC]
  • MIR888:microRNA 888 [Gene - HGNC]
  • MIR890:microRNA 890 [Gene - HGNC]
  • MIR891A:microRNA 891a [Gene - HGNC]
  • MIR891B:microRNA 891b [Gene - HGNC]
  • MIR892A:microRNA 892a [Gene - HGNC]
  • MIR892B:microRNA 892b [Gene - HGNC]
  • MIR892C:microRNA 892c [Gene - HGNC]
  • MTM1:myotubularin 1 [Gene - OMIM - HGNC]
  • MTMR1:myotubularin related protein 1 [Gene - OMIM - HGNC]
  • OPN1LW:opsin 1, long wave sensitive [Gene - OMIM - HGNC]
  • OPN1MW2:opsin 1, medium wave sensitive 2 [Gene - HGNC]
  • OPN1MW3:opsin 1, medium wave sensitive 3 [Gene - HGNC]
  • OPN1MW:opsin 1, medium wave sensitive [Gene - OMIM - HGNC]
  • OPSIN-LCR:opsin locus control region [Gene - OMIM]
  • LOC107048984:origin of replication in 5' region of AFF2/FMR2 [Gene]
  • LOC107032825:origin of replication in 5' region of FMR1 [Gene]
  • LOC107181288:origin of replication in promoter of G6PD [Gene]
  • LOC107048982:origin of replication upstream of FMR1 [Gene]
  • PLXNA3:plexin A3 [Gene - OMIM - HGNC]
  • PLXNB3:plexin B3 [Gene - OMIM - HGNC]
  • PNCK:pregnancy up-regulated nonubiquitous CaM kinase [Gene - OMIM - HGNC]
  • PRRG3:proline rich and Gla domain 3 [Gene - OMIM - HGNC]
  • RENBP:renin binding protein [Gene - OMIM - HGNC]
  • RPL10:ribosomal protein L10 [Gene - OMIM - HGNC]
  • SSR4:signal sequence receptor subunit 4 [Gene - OMIM - HGNC]
  • SMIM9:small integral membrane protein 9 [Gene - HGNC]
  • SNORA36A:small nucleolar RNA, H/ACA box 36A [Gene - HGNC]
  • SNORA56:small nucleolar RNA, H/ACA box 56 [Gene - HGNC]
  • SNORA70:small nucleolar RNA, H/ACA box 70 [Gene - HGNC]
  • SLC10A3:solute carrier family 10 member 3 [Gene - OMIM - HGNC]
  • SLC6A8:solute carrier family 6 member 8 [Gene - OMIM - HGNC]
  • TAFAZZIN:tafazzin, phospholipid-lysophospholipid transacylase [Gene - OMIM - HGNC]
  • TEX28:testis expressed 28 [Gene - OMIM - HGNC]
  • TREX2:three prime repair exonuclease 2 [Gene - OMIM - HGNC]
  • TKTL1:transketolase like 1 [Gene - OMIM - HGNC]
  • TMEM185A:transmembrane protein 185A [Gene - OMIM - HGNC]
  • TMEM187:transmembrane protein 187 [Gene - OMIM - HGNC]
  • UBL4A:ubiquitin like 4A [Gene - OMIM - HGNC]
  • LOC101927830:uncharacterized LOC101927830 [Gene]
  • LOC105373367:uncharacterized LOC105373367 [Gene]
  • LOC105373378:uncharacterized LOC105373378 [Gene]
  • LOC105373383:uncharacterized LOC105373383 [Gene]
  • LOC105377213:uncharacterized LOC105377213 [Gene]
  • LOC122319696:uncharacterized LOC122319696 [Gene]
  • VMA21:vacuolar ATPase assembly factor VMA21 [Gene - OMIM - HGNC]
  • ZNF185:zinc finger protein 185 with LIM domain [Gene - OMIM - HGNC]
  • ZNF275:zinc finger protein 275 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xq27.3-28
Genomic location:
Preferred name:
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3
HGVS:
  • NC_000023.11:g.(?_144627217)_(155434735_?)dup
  • NC_000023.10:g.(?_146715565)_(154664396_?)dup
  • NC_000023.9:g.(?_143516380)_(154317590_?)dup
Links:
dbVar: nssv3395984; dbVar: nssv576421; dbVar: nsv491778
Observations:
2

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
SCV000173132ISCA site 4

See additional submitters

no assertion criteria provided
Pathogenic
(Apr 23, 2013) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes2not 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 4, SCV000173132.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided
2unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024