GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 AND See cases

Clinical significance:Pathogenic (Last evaluated: Oct 22, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000142137.4

Allele description [Variation Report for GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1]

GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1

Genes:
  • AKAP14:A-kinase anchoring protein 14 [Gene - OMIM - HGNC]
  • AFF2:AF4/FMR2 family member 2 [Gene - OMIM - HGNC]
  • ABCD1:ATP binding cassette subfamily D member 1 [Gene - OMIM - HGNC]
  • ATP6AP1:ATPase H+ transporting accessory protein 1 [Gene - OMIM - HGNC]
  • ATP1B4:ATPase Na+/K+ transporting family member beta 4 [Gene - HGNC]
  • ATP11C:ATPase phospholipid transporting 11C [Gene - OMIM - HGNC]
  • ATP2B3:ATPase plasma membrane Ca2+ transporting 3 [Gene - OMIM - HGNC]
  • BCAP31:B cell receptor associated protein 31 [Gene - OMIM - HGNC]
  • BCORL1:BCL6 corepressor like 1 [Gene - OMIM - HGNC]
  • BRCC3:BRCA1/BRCA2-containing complex subunit 3 [Gene - OMIM - HGNC]
  • CMC4:C-X9-C motif containing 4 [Gene - HGNC]
  • C1GALT1C1:C1GALT1 specific chaperone 1 [Gene - OMIM - HGNC]
  • CD40LG:CD40 ligand [Gene - OMIM - HGNC]
  • CD99L2:CD99 molecule like 2 [Gene - OMIM - HGNC]
  • CSAG2:CSAG family member 2 [Gene - HGNC]
  • CSAG3:CSAG family member 3 [Gene - HGNC]
  • 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]
  • FRMD7:FERM domain containing 7 [Gene - OMIM - HGNC]
  • FGF13-AS1:FGF13 antisense RNA 1 [Gene - HGNC]
  • FMR1-AS1:FMR1 antisense RNA 1 [Gene - OMIM - HGNC]
  • FMR1NB:FMR1 neighbor [Gene - HGNC]
  • FMR1:FMRP translational regulator 1 [Gene - OMIM - HGNC]
  • LOC108684022:FRAXA repeat instability region [Gene]
  • LOC109461475:FRAXE repeat instability region [Gene]
  • LOC109396974:FRAXF repeat instability region [Gene]
  • FUNDC2:FUN14 domain containing 2 [Gene - HGNC]
  • GPR101:G protein-coupled receptor 101 [Gene - OMIM - HGNC]
  • GPR119:G protein-coupled receptor 119 [Gene - OMIM - HGNC]
  • GPR50:G protein-coupled receptor 50 [Gene - OMIM - HGNC]
  • LOC108281126:G6PD and IKBKG intron CAGE-defined low expression enhancer [Gene]
  • LOC111464987:GATA motif-containing MPRA enhancer 234 [Gene]
  • GDI1:GDP dissociation inhibitor 1 [Gene - OMIM - HGNC]
  • GPC3-AS1:GPC3 antisense RNA 1 [Gene - 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 - HGNC]
  • H2AB2:H2A.B variant histone 2 [Gene - HGNC]
  • H2AB3:H2A.B variant histone 3 [Gene - OMIM - HGNC]
  • HAUS7:HAUS augmin like complex subunit 7 [Gene - OMIM - HGNC]
  • HCFC1-AS1:HCFC1 antisense RNA 1 [Gene - HGNC]
  • HTATSF1:HIV-1 Tat specific factor 1 [Gene - OMIM - HGNC]
  • LOC111589209:HNF4 motif-containing MPRA enhancer 232 [Gene]
  • HS6ST2-AS1:HS6ST2 antisense RNA 1 [Gene - HGNC]
  • 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]
  • INTS6L-AS1:INTS6L antisense RNA 1 [Gene - HGNC]
  • KIAA1210:KIAA1210 [Gene - OMIM - HGNC]
  • LAGE3:L antigen family member 3 [Gene - OMIM - HGNC]
  • L1CAM:L1 cell adhesion molecule [Gene - OMIM - HGNC]
  • LDOC1:LDOC1 regulator of NFKB signaling [Gene - OMIM - HGNC]
  • LONRF3:LON peptidase N-terminal domain and ring finger 3 [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]
  • MAGEA5:MAGE family member A5 [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]
  • MAGEC1:MAGE family member C1 [Gene - OMIM - HGNC]
  • MAGEC2:MAGE family member C2 [Gene - OMIM - HGNC]
  • MAGEC3:MAGE family member C3 [Gene - OMIM - HGNC]
  • MAGEA10-MAGEA5:MAGEA10-MAGEA5 readthrough [Gene]
  • MAGEA4-AS1:MAGEA4 antisense RNA 1 [Gene - HGNC]
  • MAGEA8-AS1:MAGEA8 antisense RNA 1 [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]
  • MIR503HG:MIR503 host gene [Gene - HGNC]
  • NAA10:N(alpha)-acetyltransferase 10, NatA catalytic subunit [Gene - OMIM - HGNC]
  • NSDHL:NAD(P) dependent steroid dehydrogenase-like [Gene - OMIM - HGNC]
  • NDUFA1:NADH:ubiquinone oxidoreductase subunit A1 [Gene - OMIM - HGNC]
  • LOC111365170:NFE2L2 motif-containing MPRA enhancer 190/191 [Gene]
  • 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]
  • PASD1:PAS domain containing repressor 1 [Gene - OMIM - HGNC]
  • PDZD4:PDZ domain containing 4 [Gene - OMIM - HGNC]
  • PHF6:PHD finger protein 6 [Gene - OMIM - 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]
  • RAB33A:RAB33A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB39B:RAB39B, member RAS oncogene family [Gene - OMIM - 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]
  • ARHGAP4:Rho GTPase activating protein 4 [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]
  • SLITRK2:SLIT and NTRK like family member 2 [Gene - OMIM - HGNC]
  • SLITRK4:SLIT and NTRK like family member 4 [Gene - OMIM - HGNC]
  • SMIM10L2B-AS1:SMIM10L2B antisense RNA 1 [Gene - HGNC]
  • LOC108281134:SOX3 promoter region [Gene]
  • SPANXA2:SPANX family member A2 [Gene - OMIM - HGNC]
  • SPANXB1:SPANX family member B1 [Gene - OMIM - HGNC]
  • SPANXC:SPANX family member C [Gene - OMIM - HGNC]
  • SPANXD:SPANX family member D [Gene - OMIM - OMIM - HGNC]
  • SPANXN1:SPANX family member N1 [Gene - OMIM - HGNC]
  • SPANXN2:SPANX family member N2 [Gene - OMIM - HGNC]
  • SPANXN3:SPANX family member N3 [Gene - OMIM - HGNC]
  • SPANXN4:SPANX family member N4 [Gene - OMIM - HGNC]
  • SPANXA2-OT1:SPANXA2 overlapping transcript 1 [Gene - HGNC]
  • SRPK3:SRSF protein kinase 3 [Gene - OMIM - HGNC]
  • SOX3:SRY-box transcription factor 3 [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]
  • LOC113875015:Sharpr-MPRA regulatory region 12525 [Gene]
  • LOC113875012:Sharpr-MPRA regulatory region 13624 [Gene]
  • LOC113875008:Sharpr-MPRA regulatory region 13828 [Gene]
  • LOC113875009:Sharpr-MPRA regulatory region 14523 [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]
  • LOC113875016:Sharpr-MPRA regulatory region 7862 [Gene]
  • LOC114022705:Sharpr-MPRA regulatory region 9216 [Gene]
  • LOC113875014:Sharpr-MPRA regulatory region 9358 [Gene]
  • TEX13C:TEX13 family member C [Gene - HGNC]
  • TEX13D:TEX13 family member D [Gene - HGNC]
  • THOC2:THO complex 2 [Gene - OMIM - HGNC]
  • TMLHE-AS1:TMLHE antisense RNA 1 [Gene - HGNC]
  • UPF3B:UPF3B regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
  • UTP14A:UTP14A small subunit processome component [Gene - OMIM - HGNC]
  • VBP1:VHL binding protein 1 [Gene - OMIM - HGNC]
  • LOC110121198:VISTA enhancer hs1745 [Gene]
  • LOC110121199:VISTA enhancer hs1746 [Gene]
  • LOC110120680:VISTA enhancer hs427 [Gene]
  • LOC110120737:VISTA enhancer hs667 [Gene]
  • LOC110120761:VISTA enhancer hs755 [Gene]
  • XIAP:X-linked inhibitor of apoptosis [Gene - OMIM - HGNC]
  • XPNPEP2:X-prolyl aminopeptidase 2 [Gene - OMIM - HGNC]
  • LOC107988033:Xq28 distal FLNA-EMD recombination region [Gene]
  • LOC107988032:Xq28 proximal FLNA-EMD recombination region [Gene]
  • ZFP92:ZFP92 zinc finger protein [Gene - 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 - HGNC]
  • APLN:apelin [Gene - OMIM - HGNC]
  • AIFM1:apoptosis inducing factor mitochondria associated 1 [Gene - OMIM - OMIM - OMIM - HGNC]
  • AVPR2:arginine vasopressin receptor 2 [Gene - OMIM - HGNC]
  • BGN:biglycan [Gene - OMIM - HGNC]
  • BRS3:bombesin receptor subtype 3 [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]
  • CT55:cancer/testis antigen 55 [Gene - 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]
  • CETN2:centrin 2 [Gene - OMIM - HGNC]
  • CDR1:cerebellar degeneration related protein 1 [Gene - OMIM - HGNC]
  • CLIC2:chloride intracellular channel 2 [Gene - OMIM - HGNC]
  • CSAG1:chondrosarcoma associated gene 1 [Gene - OMIM - HGNC]
  • LOC389895:chromosome 16 open reading frame 72-like [Gene]
  • CXorf40A:chromosome X open reading frame 40A [Gene - OMIM - HGNC]
  • CXorf40B:chromosome X open reading frame 40B [Gene - HGNC]
  • CXorf51A:chromosome X open reading frame 51A [Gene - HGNC]
  • CXorf51B:chromosome X open reading frame 51B [Gene - HGNC]
  • CXorf56:chromosome X open reading frame 56 [Gene - OMIM - HGNC]
  • CXorf66:chromosome X open reading frame 66 [Gene - HGNC]
  • F9:coagulation factor IX [Gene - OMIM - HGNC]
  • F8A1:coagulation factor VIII associated 1 [Gene - OMIM - HGNC]
  • F8A2:coagulation factor VIII associated 2 [Gene - HGNC]
  • F8A3:coagulation factor VIII associated 3 [Gene - HGNC]
  • F8:coagulation factor VIII [Gene - OMIM - HGNC]
  • CCDC160:coiled-coil domain containing 160 [Gene - HGNC]
  • CUL4B:cullin 4B [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]
  • 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]
  • EMD:emerin [Gene - OMIM - HGNC]
  • LOC100509091:extracellular matrix protein 2-like [Gene]
  • FAM122B:family with sequence similarity 122B [Gene - HGNC]
  • FAM122C:family with sequence similarity 122C [Gene - HGNC]
  • FAM223A:family with sequence similarity 223 member A [Gene - HGNC]
  • FAM223B:family with sequence similarity 223 member B [Gene - HGNC]
  • FAM3A:family with sequence similarity 3 member A [Gene - OMIM - HGNC]
  • FAM50A:family with sequence similarity 50 member A [Gene - OMIM - HGNC]
  • FATE1:fetal and adult testis expressed 1 [Gene - OMIM - HGNC]
  • FGF13:fibroblast growth factor 13 [Gene - OMIM - HGNC]
  • FLNA:filamin A [Gene - OMIM - HGNC]
  • FIRRE:firre intergenic repeating RNA element [Gene - OMIM - HGNC]
  • FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]
  • GABRA3:gamma-aminobutyric acid type A receptor alpha3 subunit [Gene - OMIM - HGNC]
  • GABRE:gamma-aminobutyric acid type A receptor epsilon subunit [Gene - OMIM - HGNC]
  • GABRQ:gamma-aminobutyric acid type A receptor theta subunit [Gene - OMIM - HGNC]
  • G6PD:glucose-6-phosphate dehydrogenase [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]
  • 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]
  • HS6ST2:heparan sulfate 6-O-sulfotransferase 2 [Gene - OMIM - HGNC]
  • HMGB3:high mobility group box 3 [Gene - OMIM - HGNC]
  • HCFC1:host cell factor C1 [Gene - OMIM - HGNC]
  • HPRT1:hypoxanthine phosphoribosyltransferase 1 [Gene - OMIM - HGNC]
  • IDS:iduronate 2-sulfatase [Gene - OMIM - HGNC]
  • IGSF1:immunoglobulin superfamily member 1 [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]
  • LOC106146152:int22h-3 recombination region [Gene]
  • INTS6L:integrator complex subunit 6 like [Gene - HGNC]
  • IRAK1:interleukin 1 receptor associated kinase 1 [Gene - OMIM - HGNC]
  • IL9R:interleukin 9 receptor [Gene - OMIM - HGNC]
  • IDH3G:isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma [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]
  • LINC00629:long intergenic non-protein coding RNA 629 [Gene - HGNC]
  • LINC00632:long intergenic non-protein coding RNA 632 [Gene - HGNC]
  • LINC00850:long intergenic non-protein coding RNA 850 [Gene - OMIM - HGNC]
  • LINC00889:long intergenic non-protein coding RNA 889 [Gene - HGNC]
  • LINC00892:long intergenic non-protein coding RNA 892 [Gene - HGNC]
  • LINC00893:long intergenic non-protein coding RNA 893 [Gene - HGNC]
  • LINC00894:long intergenic non-protein coding RNA 894 [Gene - HGNC]
  • LCA10:lung carcinoma-associated 10 [Gene]
  • LAMP2:lysosomal associated membrane protein 2 [Gene - OMIM - HGNC]
  • MAMLD1:mastermind like domain containing 1 [Gene - OMIM - HGNC]
  • MTCP1:mature T cell proliferation 1 [Gene - OMIM - HGNC]
  • LOC107522039:meiotic recombination hotspot PAR2 [Gene]
  • LOC107838685:meiotic recombination hotspot PAR2A [Gene]
  • MMGT1:membrane magnesium transporter 1 [Gene - HGNC]
  • MPP1:membrane palmitoylated protein 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]
  • MIR106A:microRNA 106a [Gene - OMIM - HGNC]
  • MIR1184-1:microRNA 1184-1 [Gene - HGNC]
  • MIR1184-2:microRNA 1184-2 [Gene - HGNC]
  • MIR1184-3:microRNA 1184-3 [Gene - HGNC]
  • MIR12129:microRNA 12129 [Gene - HGNC]
  • MIR18B:microRNA 18b [Gene - HGNC]
  • MIR19B2:microRNA 19b-2 [Gene - OMIM - HGNC]
  • MIR20B:microRNA 20b [Gene - OMIM - 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]
  • MIR320D2:microRNA 320d-2 [Gene - HGNC]
  • MIR363:microRNA 363 [Gene - HGNC]
  • MIR3672:microRNA 3672 [Gene - HGNC]
  • MIR424:microRNA 424 [Gene - OMIM - HGNC]
  • MIR4330:microRNA 4330 [Gene - HGNC]
  • MIR450A1:microRNA 450a-1 [Gene - HGNC]
  • MIR450A2:microRNA 450a-2 [Gene - HGNC]
  • MIR450B:microRNA 450b [Gene - HGNC]
  • MIR452:microRNA 452 [Gene - HGNC]
  • MIR503:microRNA 503 [Gene - OMIM - HGNC]
  • MIR504:microRNA 504 [Gene - HGNC]
  • MIR505:microRNA 505 [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]
  • MIR542:microRNA 542 [Gene - HGNC]
  • MIR664B:microRNA 664b [Gene - HGNC]
  • MIR6858:microRNA 6858 [Gene - HGNC]
  • MIR718:microRNA 718 [Gene - OMIM - HGNC]
  • MIR766:microRNA 766 [Gene - 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]
  • MIR92A2:microRNA 92a-2 [Gene - HGNC]
  • MIR934:microRNA 934 [Gene - HGNC]
  • MOSPD1:motile sperm domain containing 1 [Gene - OMIM - HGNC]
  • MBNL3:muscleblind like splicing regulator 3 [Gene - OMIM - HGNC]
  • MTM1:myotubularin 1 [Gene - OMIM - HGNC]
  • MTMR1:myotubularin related protein 1 [Gene - OMIM - HGNC]
  • OR13H1:olfactory receptor family 13 subfamily H member 1 [Gene - 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]
  • LOC107032760:origin of replication in promoter/intron 1 of HPRT1 [Gene]
  • LOC107048982:origin of replication upstream of FMR1 [Gene]
  • PLAC1:placenta enriched 1 [Gene - OMIM - HGNC]
  • PLXNA3:plexin A3 [Gene - OMIM - HGNC]
  • PLXNB3:plexin B3 [Gene - OMIM - HGNC]
  • PNCK:pregnancy up-regulated nonubiquitous CaM kinase [Gene - OMIM - HGNC]
  • PGRMC1:progesterone receptor membrane component 1 [Gene - OMIM - HGNC]
  • PRR32:proline rich 32 [Gene - HGNC]
  • PRRG3:proline rich and Gla domain 3 [Gene - OMIM - HGNC]
  • RENBP:renin binding protein [Gene - OMIM - HGNC]
  • RTL8A:retrotransposon Gag like 8A [Gene - HGNC]
  • RTL8B:retrotransposon Gag like 8B [Gene - HGNC]
  • RTL8C:retrotransposon Gag like 8C [Gene - OMIM - HGNC]
  • RPL10:ribosomal protein L10 [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]
  • SSR4:signal sequence receptor subunit 4 [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]
  • SMIM9:small integral membrane protein 9 [Gene - HGNC]
  • SNORD61:small nucleolar RNA, C/D box 61 [Gene - HGNC]
  • SNORA36A:small nucleolar RNA, H/ACA box 36A [Gene - HGNC]
  • SNORA56:small nucleolar RNA, H/ACA box 56 [Gene - HGNC]
  • SNORA69:small nucleolar RNA, H/ACA box 69 [Gene - HGNC]
  • SNORA70:small nucleolar RNA, H/ACA box 70 [Gene - HGNC]
  • SLC10A3:solute carrier family 10 member 3 [Gene - OMIM - 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]
  • SLC6A8:solute carrier family 6 member 8 [Gene - OMIM - HGNC]
  • SLC9A6:solute carrier family 9 member A6 [Gene - OMIM - HGNC]
  • SOWAHD:sosondowah ankyrin repeat domain family member D [Gene - HGNC]
  • SPANXA1:sperm protein associated with the nucleus, X-linked, family member A1 [Gene - OMIM - HGNC]
  • SPRY3:sprouty RTK signaling antagonist 3 [Gene - OMIM - HGNC]
  • STAG2:stromal antigen 2 [Gene - OMIM - HGNC]
  • TAZ:tafazzin [Gene - OMIM - HGNC]
  • TENM1:teneurin transmembrane protein 1 [Gene - OMIM - HGNC]
  • TEX28:testis expressed 28 [Gene - OMIM - HGNC]
  • TREX2:three prime repair exonuclease 2 [Gene - OMIM - HGNC]
  • TFDP3:transcription factor Dp family member 3 [Gene - OMIM - HGNC]
  • TKTL1:transketolase like 1 [Gene - OMIM - HGNC]
  • TMEM185A:transmembrane protein 185A [Gene - OMIM - HGNC]
  • TMEM187:transmembrane protein 187 [Gene - OMIM - HGNC]
  • TMEM255A:transmembrane protein 255A [Gene - HGNC]
  • TMLHE:trimethyllysine hydroxylase, epsilon [Gene - OMIM - HGNC]
  • UBE2A:ubiquitin conjugating enzyme E2 A [Gene - OMIM - HGNC]
  • UBE2NL:ubiquitin conjugating enzyme E2 N like (gene/pseudogene) [Gene - HGNC]
  • UBL4A:ubiquitin like 4A [Gene - OMIM - HGNC]
  • USP26:ubiquitin specific peptidase 26 [Gene - OMIM - HGNC]
  • LOC100506790:uncharacterized LOC100506790 [Gene]
  • LOC101927830:uncharacterized LOC101927830 [Gene]
  • LOC101928336:uncharacterized LOC101928336 [Gene]
  • LOC101928402:uncharacterized LOC101928402 [Gene]
  • LOC101928495:uncharacterized LOC101928495 [Gene]
  • LOC105373338:uncharacterized LOC105373338 [Gene]
  • LOC105373378:uncharacterized LOC105373378 [Gene]
  • LOC105373383:uncharacterized LOC105373383 [Gene]
  • LOC105377213:uncharacterized LOC105377213 [Gene]
  • LOC645188:uncharacterized LOC645188 [Gene]
  • LOC728660:uncharacterized LOC728660 [Gene]
  • CH17-340M24.3:uncharacterized protein BC009467 [Gene]
  • VMA21:vacuolar ATPase assembly factor VMA21 [Gene - OMIM - HGNC]
  • VAMP7:vesicle associated membrane protein 7 [Gene - OMIM - HGNC]
  • VGLL1:vestigial like family member 1 [Gene - OMIM - HGNC]
  • ZDHHC9:zinc finger DHHC-type containing 9 [Gene - OMIM - HGNC]
  • ZBTB33:zinc finger and BTB domain containing 33 [Gene - OMIM - HGNC]
  • ZNF185:zinc finger protein 185 with LIM domain [Gene - OMIM - HGNC]
  • ZNF275:zinc finger protein 275 [Gene - 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 loss
Cytogenetic location:
Xq24-28
Genomic location:
Preferred name:
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1
HGVS:
  • NC_000023.11:g.(?_118856574)_(156004066_?)del
  • NC_000023.10:g.(?_117990537)_(155233731_?)del
Links:
dbVar: nssv3395174; dbVar: nsv995934
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000183363ISCA site 1

See additional submitters

no assertion criteria providedPathogenic
(Oct 22, 2013)
not providedclinical testing

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

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

SCV000183363

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/].

SCV000183363

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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, SCV000183363.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Sep 10, 2019

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