GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 AND See cases

Clinical significance:Pathogenic (Last evaluated: Aug 12, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000053817.5

Allele description [Variation Report for GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3]

GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3

Genes:
  • ARAF:A-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
  • AKAP17A:A-kinase anchoring protein 17A [Gene - OMIM - OMIM - HGNC]
  • AKAP4:A-kinase anchoring protein 4 [Gene - OMIM - HGNC]
  • ARSD-AS1:ARSD antisense RNA 1 [Gene - HGNC]
  • ASMTL-AS1:ASMTL antisense RNA 1 [Gene - HGNC]
  • ATP6AP2:ATPase H+ transporting accessory protein 2 [Gene - OMIM - HGNC]
  • BCOR:BCL6 corepressor [Gene - OMIM - HGNC]
  • BCLAF3:BCLAF1 and THRAP3 family member 3 [Gene - HGNC]
  • BEND2:BEN domain containing 2 [Gene - HGNC]
  • BMX:BMX non-receptor tyrosine kinase [Gene - OMIM - HGNC]
  • CA5BP1-CA5B:CA5BP1-CA5B readthrough [Gene]
  • CD99:CD99 molecule (Xg blood group) [Gene - OMIM - OMIM - HGNC]
  • CNE-2:CNE-2 enhancer upstream of SHOX [Gene]
  • CNE-3:CNE-3 enhancer upstream of SHOX [Gene]
  • CNE-5:CNE-5 enhancer upstream of SHOX [Gene]
  • CNE4:CNE4 enhancer downstream of SHOX [Gene]
  • CNE5:CNE5 enhancer downstream of SHOX [Gene]
  • CNE6:CNE6 enhancer downstream of SHOX [Gene]
  • CNE7:CNE7 enhancer downstream of SHOX [Gene]
  • CNE8:CNE8 enhancer downstream of SHOX [Gene]
  • CNE9:CNE9 enhancer downstream of SHOX [Gene]
  • CTPS2:CTP synthase 2 [Gene - OMIM - HGNC]
  • CBLL2:Cbl proto-oncogene like 2 [Gene - HGNC]
  • DCAF8L1:DDB1 and CUL4 associated factor 8 like 1 [Gene - HGNC]
  • DCAF8L2:DDB1 and CUL4 associated factor 8 like 2 [Gene - HGNC]
  • DDX3X:DEAD-box helicase 3 X-linked [Gene - OMIM - HGNC]
  • DDX53:DEAD-box helicase 53 [Gene - HGNC]
  • POLA1:DNA polymerase alpha 1, catalytic subunit [Gene - OMIM - HGNC]
  • EBP:EBP cholestenol delta-isomerase [Gene - OMIM - HGNC]
  • EFHC2:EF-hand domain containing 2 [Gene - OMIM - HGNC]
  • EGFL6:EGF like domain multiple 6 [Gene - OMIM - HGNC]
  • EIF1AX-AS1:EIF1AX antisense RNA 1 [Gene - HGNC]
  • ERAS:ES cell expressed Ras [Gene - OMIM - HGNC]
  • ELK1:ETS transcription factor ELK1 [Gene - OMIM - HGNC]
  • EZHIP:EZH inhibitory protein [Gene - HGNC]
  • FANCB:FA complementation group B [Gene - OMIM - HGNC]
  • FRMPD4:FERM and PDZ domain containing 4 [Gene - OMIM - HGNC]
  • FLICR:FOXP3 regulating long intergenic non-coding RNA [Gene - HGNC]
  • FUNDC1:FUN14 domain containing 1 [Gene - OMIM - HGNC]
  • FTSJ1:FtsJ RNA 2'-O-methyltransferase 1 [Gene - OMIM - HGNC]
  • GAGE10:G antigen 10 [Gene - OMIM - HGNC]
  • GAGE12B:G antigen 12B [Gene - HGNC]
  • GAGE12C:G antigen 12C [Gene - OMIM - HGNC]
  • GAGE12D:G antigen 12D [Gene - OMIM - HGNC]
  • GAGE12E:G antigen 12E [Gene - OMIM - HGNC]
  • GAGE12F:G antigen 12F [Gene - OMIM - HGNC]
  • GAGE12G:G antigen 12G [Gene - OMIM - HGNC]
  • GAGE12H:G antigen 12H [Gene - OMIM - HGNC]
  • GAGE12I:G antigen 12I [Gene - OMIM - HGNC]
  • GAGE12J:G antigen 12J [Gene - OMIM - HGNC]
  • GAGE13:G antigen 13 [Gene - OMIM - HGNC]
  • GAGE1:G antigen 1 [Gene - OMIM - HGNC]
  • GAGE2A:G antigen 2A [Gene - OMIM - HGNC]
  • GAGE2B:G antigen 2B [Gene - OMIM - HGNC]
  • GAGE2C:G antigen 2C [Gene - OMIM - HGNC]
  • GAGE2D:G antigen 2D [Gene - OMIM - HGNC]
  • GAGE2E:G antigen 2E [Gene - OMIM - HGNC]
  • GAGE8:G antigen 8 [Gene - OMIM - HGNC]
  • GPR143:G protein-coupled receptor 143 [Gene - OMIM - HGNC]
  • GPR173:G protein-coupled receptor 173 [Gene - OMIM - HGNC]
  • GPR34:G protein-coupled receptor 34 [Gene - OMIM - HGNC]
  • GPR82:G protein-coupled receptor 82 [Gene - OMIM - HGNC]
  • GPKOW:G-patch domain and KOW motifs [Gene - OMIM - HGNC]
  • GSPT2:G1 to S phase transition 2 [Gene - OMIM - HGNC]
  • GATA1:GATA binding protein 1 [Gene - OMIM - HGNC]
  • GRIPAP1:GRIP1 associated protein 1 [Gene - OMIM - HGNC]
  • GTPBP6:GTP binding protein 6 (putative) [Gene - OMIM - HGNC]
  • H2AP:H2A.P histone [Gene - HGNC]
  • HUWE1:HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • LOC111365226:HNF4 motif-containing MPRA enhancer 122 [Gene]
  • IQSEC2:IQ motif and Sec7 domain ArfGEF 2 [Gene - OMIM - HGNC]
  • KANTR:KDM5C adjacent transcript [Gene - OMIM - HGNC]
  • KRBOX4:KRAB box domain containing 4 [Gene - OMIM - HGNC]
  • LANCL3:LanC like 3 [Gene - HGNC]
  • MAGEB10:MAGE family member B10 [Gene - OMIM - HGNC]
  • MAGEB16:MAGE family member B16 [Gene - OMIM - HGNC]
  • MAGEB17:MAGE family member B17 [Gene - OMIM - HGNC]
  • MAGEB18:MAGE family member B18 [Gene - HGNC]
  • MAGEB1:MAGE family member B1 [Gene - OMIM - HGNC]
  • MAGEB2:MAGE family member B2 [Gene - OMIM - HGNC]
  • MAGEB3:MAGE family member B3 [Gene - OMIM - HGNC]
  • MAGEB4:MAGE family member B4 [Gene - OMIM - HGNC]
  • MAGEB5:MAGE family member B5 [Gene - OMIM - HGNC]
  • MAGEB6:MAGE family member B6 [Gene - OMIM - HGNC]
  • MAGED1:MAGE family member D1 [Gene - OMIM - HGNC]
  • MAGED4:MAGE family member D4 [Gene - OMIM - HGNC]
  • MAGED4B:MAGE family member D4B [Gene - OMIM - HGNC]
  • MAGIX:MAGI family member, X-linked [Gene - HGNC]
  • MAP7D2:MAP7 domain containing 2 [Gene - HGNC]
  • MED14OS:MED14 opposite strand [Gene - HGNC]
  • MID1IP1:MID1 interacting protein 1 [Gene - OMIM - HGNC]
  • LOC111242786:MID1 promoter D [Gene]
  • MID1IP1-AS1:MID1IP1 antisense RNA 1 [Gene - HGNC]
  • MSL3:MSL complex subunit 3 [Gene - OMIM - HGNC]
  • NDUFB11:NADH:ubiquinone oxidoreductase subunit B11 [Gene - OMIM - HGNC]
  • NDP-AS1:NDP antisense RNA 1 [Gene - HGNC]
  • LOC111365193:NFE2L2 motif-containing MPRA enhancer 58 [Gene]
  • NHS:NHS actin remodeling regulator [Gene - OMIM - HGNC]
  • NHS-AS1:NHS antisense RNA 1 [Gene - HGNC]
  • LOC108410393:NR0B1 5' regulatory region [Gene]
  • OFD1:OFD1 centriole and centriolar satellite protein [Gene - OMIM - HGNC]
  • OTUD5:OTU deubiquitinase 5 [Gene - OMIM - HGNC]
  • P2RY8:P2Y receptor family member 8 [Gene - OMIM - HGNC]
  • PAGE1:PAGE family member 1 [Gene - OMIM - HGNC]
  • PAGE4:PAGE family member 4 [Gene - OMIM - HGNC]
  • PCYT1B-AS1:PCYT1B antisense RNA 1 [Gene - HGNC]
  • PHF8:PHD finger protein 8 [Gene - OMIM - HGNC]
  • PHEX-AS1:PHEX antisense RNA 1 [Gene - HGNC]
  • PHKA2-AS1:PHKA2 antisense RNA 1 [Gene - HGNC]
  • PIR-FIGF:PIR-FIGF readthrough [Gene]
  • PPEF1-AS1:PPEF1 antisense RNA 1 [Gene - HGNC]
  • PPP1R2C:PPP1R2C family member C [Gene - OMIM - HGNC]
  • PRAF2:PRA1 domain family member 2 [Gene - OMIM - HGNC]
  • PRKX-AS1:PRKX antisense RNA 1 [Gene - HGNC]
  • PTCHD1-AS:PTCHD1 antisense RNA (head to head) [Gene - HGNC]
  • PIM2:Pim-2 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
  • RAB9A:RAB9A, member RAS oncogene family [Gene - OMIM - HGNC]
  • REPS2:RALBP1 associated Eps domain containing 2 [Gene - OMIM - HGNC]
  • RBBP7:RB binding protein 7, chromatin remodeling factor [Gene - OMIM - HGNC]
  • RIBC1:RIB43A domain with coiled-coils 1 [Gene - HGNC]
  • RBM10:RNA binding motif protein 10 [Gene - OMIM - HGNC]
  • RBM3:RNA binding motif protein 3 [Gene - OMIM - HGNC]
  • RP2:RP2 activator of ARL3 GTPase [Gene - OMIM - HGNC]
  • ARHGAP6:Rho GTPase activating protein 6 [Gene - OMIM - HGNC]
  • S100G:S100 calcium binding protein G [Gene - OMIM - HGNC]
  • LOC106029241:S232-VCX2 recombination region [Gene]
  • LOC106029240:S232-VCX3A recombination region [Gene]
  • SH3KBP1:SH3 domain containing kinase binding protein 1 [Gene - OMIM - HGNC]
  • LOC108251802:SHOX downstream enhancer, distal recombination region [Gene]
  • LOC108251803:SHOX downstream enhancer, proximal recombination region [Gene]
  • SPANXN5:SPANX family member N5 [Gene - OMIM - HGNC]
  • SSX1:SSX family member 1 [Gene - OMIM - HGNC]
  • SSX2:SSX family member 2 [Gene - OMIM - HGNC]
  • SSX2B:SSX family member 2B [Gene - HGNC]
  • SSX3:SSX family member 3 [Gene - OMIM - HGNC]
  • SSX4:SSX family member 4 [Gene - OMIM - HGNC]
  • SSX4B:SSX family member 4B [Gene - HGNC]
  • SSX5:SSX family member 5 [Gene - OMIM - HGNC]
  • SSX7:SSX family member 7 [Gene - OMIM - HGNC]
  • SUPT20HL1:SUPT20H like 1 [Gene - HGNC]
  • SUPT20HL2:SUPT20H like 2 [Gene - HGNC]
  • SYP-AS1:SYP antisense RNA 1 [Gene - HGNC]
  • SCML1:Scm polycomb group protein like 1 [Gene - OMIM - HGNC]
  • SCML2:Scm polycomb group protein like 2 [Gene - OMIM - HGNC]
  • LOC113875031:Sharpr-MPRA regulatory region 10462 [Gene]
  • LOC113875027:Sharpr-MPRA regulatory region 10799 [Gene]
  • LOC113875021:Sharpr-MPRA regulatory region 11205 [Gene]
  • LOC113875017:Sharpr-MPRA regulatory region 11823 [Gene]
  • LOC113875019:Sharpr-MPRA regulatory region 11934 [Gene]
  • LOC113875018:Sharpr-MPRA regulatory region 13349 [Gene]
  • LOC113845783:Sharpr-MPRA regulatory region 13392 [Gene]
  • LOC114022706:Sharpr-MPRA regulatory region 13558 [Gene]
  • LOC113875024:Sharpr-MPRA regulatory region 13807 [Gene]
  • LOC113875025:Sharpr-MPRA regulatory region 15169 [Gene]
  • LOC113845784:Sharpr-MPRA regulatory region 2065 [Gene]
  • LOC113875026:Sharpr-MPRA regulatory region 2101 [Gene]
  • LOC113875032:Sharpr-MPRA regulatory region 2669 [Gene]
  • LOC113875022:Sharpr-MPRA regulatory region 3177 [Gene]
  • LOC113875013:Sharpr-MPRA regulatory region 3255 [Gene]
  • LOC113875006:Sharpr-MPRA regulatory region 4636 [Gene]
  • LOC113875030:Sharpr-MPRA regulatory region 4668 [Gene]
  • LOC113875037:Sharpr-MPRA regulatory region 5189 [Gene]
  • LOC113845789:Sharpr-MPRA regulatory region 5588 [Gene]
  • LOC113875033:Sharpr-MPRA regulatory region 5919 [Gene]
  • LOC113875040:Sharpr-MPRA regulatory region 7028 [Gene]
  • LOC113875028:Sharpr-MPRA regulatory region 7060 [Gene]
  • LOC113875020:Sharpr-MPRA regulatory region 799 [Gene]
  • LOC113875029:Sharpr-MPRA regulatory region 8750 [Gene]
  • LOC114022707:Sharpr-MPRA regulatory region 9113 [Gene]
  • LOC113875023:Sharpr-MPRA regulatory region 9554 [Gene]
  • TAB3-AS1:TAB3 antisense RNA 1 [Gene - HGNC]
  • TBC1D25:TBC1 domain family member 25 [Gene - OMIM - HGNC]
  • TAB3:TGF-beta activated kinase 1 (MAP3K7) binding protein 3 [Gene - OMIM - HGNC]
  • TIMP1:TIMP metallopeptidase inhibitor 1 [Gene - OMIM - HGNC]
  • TLR8-AS1:TLR8 antisense RNA 1 [Gene - HGNC]
  • TSPYL2:TSPY like 2 [Gene - OMIM - HGNC]
  • USP27X-AS1:USP27X antisense RNA 1 (head to head) [Gene - HGNC]
  • UXT-AS1:UXT antisense RNA 1 [Gene - HGNC]
  • LOC110120592:VISTA enhancer hs118 [Gene]
  • LOC110120593:VISTA enhancer hs119 [Gene]
  • LOC110120594:VISTA enhancer hs121 [Gene]
  • LOC110120595:VISTA enhancer hs122 [Gene]
  • LOC110120596:VISTA enhancer hs123 [Gene]
  • LOC110120597:VISTA enhancer hs145 [Gene]
  • WAS:WASP actin nucleation promoting factor [Gene - OMIM - HGNC]
  • WDR13:WD repeat domain 13 [Gene - OMIM - HGNC]
  • WDR45:WD repeat domain 45 [Gene - OMIM - HGNC]
  • WWC3:WWC family member 3 [Gene - HGNC]
  • XAGE1A:X antigen family member 1A [Gene - OMIM - OMIM - HGNC]
  • XAGE1B:X antigen family member 1B [Gene - OMIM - OMIM - OMIM - HGNC]
  • XAGE2:X antigen family member 2 [Gene - OMIM - HGNC]
  • XAGE3:X antigen family member 3 [Gene - OMIM - HGNC]
  • XAGE5:X antigen family member 5 [Gene - HGNC]
  • XK:X-linked Kx blood group [Gene - OMIM - HGNC]
  • XG:Xg glycoprotein (Xg blood group) [Gene - OMIM - HGNC]
  • YY2:YY2 transcription factor [Gene - OMIM - HGNC]
  • LOC111556151:ZFP161 motif-containing MPRA enhancer 114 [Gene]
  • LOC111365200:ZFP161 motif-containing MPRA enhancer 76/77 [Gene]
  • ZFX-AS1:ZFX antisense RNA 1 [Gene - HGNC]
  • ZNF630-AS1:ZNF630 antisense RNA 1 [Gene - HGNC]
  • ZNF674-AS1:ZNF674 antisense RNA 1 (head to head) [Gene - HGNC]
  • ASMTL:acetylserotonin O-methyltransferase like [Gene - OMIM - OMIM - HGNC]
  • ASMT:acetylserotonin O-methyltransferase [Gene - OMIM - OMIM - HGNC]
  • ACOT9:acyl-CoA thioesterase 9 [Gene - OMIM - HGNC]
  • AP1S2:adaptor related protein complex 1 subunit sigma 2 [Gene - OMIM - HGNC]
  • ADGRG2:adhesion G protein-coupled receptor G2 [Gene - OMIM - HGNC]
  • AMELX:amelogenin X-linked [Gene - OMIM - HGNC]
  • ACE2:angiotensin I converting enzyme 2 [Gene - OMIM - HGNC]
  • ASB11:ankyrin repeat and SOCS box containing 11 [Gene - OMIM - HGNC]
  • ASB9:ankyrin repeat and SOCS box containing 9 [Gene - OMIM - HGNC]
  • ANOS1:anosmin 1 [Gene - OMIM - HGNC]
  • APOO:apolipoprotein O [Gene - OMIM - HGNC]
  • LOC109610631:aristaless related homeobox polyalanine expansion region [Gene]
  • ARX:aristaless related homeobox [Gene - OMIM - HGNC]
  • ARSD:arylsulfatase D [Gene - OMIM - HGNC]
  • ARSF:arylsulfatase F [Gene - OMIM - HGNC]
  • ARSL:arylsulfatase L [Gene - OMIM - HGNC]
  • ARSH:arylsulfatase family member H [Gene - OMIM - HGNC]
  • ATXN3L:ataxin 3 like [Gene - OMIM - HGNC]
  • BMP15:bone morphogenetic protein 15 [Gene - OMIM - HGNC]
  • CACNA1F:calcium voltage-gated channel subunit alpha1 F [Gene - OMIM - HGNC]
  • CASK:calcium/calmodulin dependent serine protein kinase [Gene - OMIM - HGNC]
  • CHST7:carbohydrate sulfotransferase 7 [Gene - OMIM - HGNC]
  • CA5B:carbonic anhydrase 5B [Gene - OMIM - HGNC]
  • CENPVL1:centromere protein V like 1 [Gene - HGNC]
  • CENPVL2:centromere protein V like 2 [Gene - HGNC]
  • CENPVL3:centromere protein V like 3 [Gene - HGNC]
  • CLCN4:chloride voltage-gated channel 4 [Gene - OMIM - HGNC]
  • CLCN5:chloride voltage-gated channel 5 [Gene - OMIM - HGNC]
  • CXorf21:chromosome X open reading frame 21 [Gene - HGNC]
  • CXorf22:chromosome X open reading frame 22 [Gene]
  • CXorf30:chromosome X open reading frame 30 [Gene]
  • CXorf38:chromosome X open reading frame 38 [Gene - HGNC]
  • CXorf58:chromosome X open reading frame 58 [Gene - HGNC]
  • CFAP47:cilia and flagella associated protein 47 [Gene - HGNC]
  • CLDN34:claudin 34 [Gene - HGNC]
  • CCDC120:coiled-coil domain containing 120 [Gene - OMIM - HGNC]
  • CCDC22:coiled-coil domain containing 22 [Gene - OMIM - HGNC]
  • CLTRN:collectrin, amino acid transport regulator [Gene - OMIM - HGNC]
  • CSF2RA:colony stimulating factor 2 receptor alpha subunit [Gene - OMIM - OMIM - HGNC]
  • CFP:complement factor properdin [Gene - OMIM - HGNC]
  • CNKSR2:connector enhancer of kinase suppressor of Ras 2 [Gene - OMIM - HGNC]
  • CCNB3:cyclin B3 [Gene - OMIM - HGNC]
  • CDK16:cyclin dependent kinase 16 [Gene - OMIM - HGNC]
  • CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
  • CYBB:cytochrome b-245 beta chain [Gene - OMIM - HGNC]
  • CRLF2:cytokine receptor like factor 2 [Gene - OMIM - OMIM - HGNC]
  • DHRSX:dehydrogenase/reductase X-linked [Gene - OMIM - HGNC]
  • DGKK:diacylglycerol kinase kappa [Gene - OMIM - HGNC]
  • DIPK2B:divergent protein kinase domain 2B [Gene - OMIM - HGNC]
  • DUSP21:dual specificity phosphatase 21 [Gene - OMIM - HGNC]
  • DYNLT3:dynein light chain Tctex-type 3 [Gene - OMIM - HGNC]
  • DMD:dystrophin [Gene - OMIM - HGNC]
  • EIF1AX:eukaryotic translation initiation factor 1A X-linked [Gene - OMIM - HGNC]
  • EIF2S3:eukaryotic translation initiation factor 2 subunit gamma [Gene - OMIM - HGNC]
  • FAM120C:family with sequence similarity 120C [Gene - OMIM - HGNC]
  • FAM156A:family with sequence similarity 156 member A [Gene - HGNC]
  • FAM156B:family with sequence similarity 156 member B [Gene - HGNC]
  • FAM47A:family with sequence similarity 47 member A [Gene - HGNC]
  • FAM47B:family with sequence similarity 47 member B [Gene - HGNC]
  • FAM47C:family with sequence similarity 47 member C [Gene - HGNC]
  • FAM9A:family with sequence similarity 9 member A [Gene - OMIM - HGNC]
  • FAM9B:family with sequence similarity 9 member B [Gene - OMIM - HGNC]
  • FAM9C:family with sequence similarity 9 member C [Gene - OMIM - HGNC]
  • FTHL17:ferritin heavy chain like 17 [Gene - OMIM - HGNC]
  • FTHL18:ferritin heavy chain like 18 [Gene - HGNC]
  • FOXP3:forkhead box P3 [Gene - OMIM - HGNC]
  • GRPR:gastrin releasing peptide receptor [Gene - OMIM - HGNC]
  • GEMIN8:gem nuclear organelle associated protein 8 [Gene - OMIM - HGNC]
  • GK:glycerol kinase [Gene - OMIM - HGNC]
  • GLRA2:glycine receptor alpha 2 [Gene - OMIM - HGNC]
  • GYG2:glycogenin 2 [Gene - OMIM - HGNC]
  • GPM6B:glycoprotein M6B [Gene - OMIM - HGNC]
  • GLOD5:glyoxalase domain containing 5 [Gene - HGNC]
  • HDAC6:histone deacetylase 6 [Gene - OMIM - HGNC]
  • HCCS:holocytochrome c synthase [Gene - OMIM - HGNC]
  • HSD17B10:hydroxysteroid 17-beta dehydrogenase 10 [Gene - OMIM - HGNC]
  • INE1:inactivation escape 1 [Gene - OMIM - HGNC]
  • INE2:inactivation escape 2 [Gene - OMIM - HGNC]
  • IL1RAPL1:interleukin 1 receptor accessory protein like 1 [Gene - OMIM - HGNC]
  • IL3RA:interleukin 3 receptor subunit alpha [Gene - OMIM - OMIM - HGNC]
  • JADE3:jade family PHD finger 3 [Gene - OMIM - HGNC]
  • KLHL15:kelch like family member 15 [Gene - OMIM - HGNC]
  • KLHL34:kelch like family member 34 [Gene - HGNC]
  • LINC00102:long intergenic non-protein coding RNA 102 [Gene - HGNC]
  • LINC00106:long intergenic non-protein coding RNA 106 [Gene - HGNC]
  • LINC01186:long intergenic non-protein coding RNA 1186 [Gene - HGNC]
  • LINC01203:long intergenic non-protein coding RNA 1203 [Gene - HGNC]
  • LINC01204:long intergenic non-protein coding RNA 1204 [Gene - HGNC]
  • LINC01281:long intergenic non-protein coding RNA 1281 [Gene - HGNC]
  • LINC01282:long intergenic non-protein coding RNA 1282 [Gene - HGNC]
  • LINC01284:long intergenic non-protein coding RNA 1284 [Gene - HGNC]
  • LINC01456:long intergenic non-protein coding RNA 1456 [Gene - HGNC]
  • LINC01496:long intergenic non-protein coding RNA 1496 [Gene - HGNC]
  • LINC01545:long intergenic non-protein coding RNA 1545 [Gene - HGNC]
  • LINC01546:long intergenic non-protein coding RNA 1546 [Gene - HGNC]
  • LINC01560:long intergenic non-protein coding RNA 1560 [Gene - HGNC]
  • LINC02154:long intergenic non-protein coding RNA 2154 [Gene - HGNC]
  • LINC02595:long intergenic non-protein coding RNA 2595 [Gene - HGNC]
  • LINC02601:long intergenic non-protein coding RNA 2601 [Gene - HGNC]
  • LINC00685:long intergenic non-protein coding RNA 685 [Gene - HGNC]
  • KDM5C:lysine demethylase 5C [Gene - OMIM - HGNC]
  • KDM6A:lysine demethylase 6A [Gene - OMIM - HGNC]
  • MXRA5:matrix remodeling associated 5 [Gene - OMIM - HGNC]
  • MED14:mediator complex subunit 14 [Gene - OMIM - HGNC]
  • LOC107652445:meiotic recombination hotspot SHOX [Gene]
  • MBTPS2:membrane bound transcription factor peptidase, site 2 [Gene - OMIM - HGNC]
  • MIR1587:microRNA 1587 [Gene - HGNC]
  • MIR188:microRNA 188 [Gene - HGNC]
  • MIR221:microRNA 221 [Gene - OMIM - HGNC]
  • MIR222:microRNA 222 [Gene - OMIM - HGNC]
  • MIR23C:microRNA 23c [Gene - HGNC]
  • MIR362:microRNA 362 [Gene - HGNC]
  • MIR3690:microRNA 3690 [Gene - HGNC]
  • MIR3915:microRNA 3915 [Gene - HGNC]
  • MIR3937:microRNA 3937 [Gene - HGNC]
  • MIR4666B:microRNA 4666b [Gene - HGNC]
  • MIR4767:microRNA 4767 [Gene - HGNC]
  • MIR4768:microRNA 4768 [Gene - HGNC]
  • MIR4769:microRNA 4769 [Gene - HGNC]
  • MIR4770:microRNA 4770 [Gene - HGNC]
  • MIR500A:microRNA 500a [Gene - HGNC]
  • MIR500B:microRNA 500b [Gene - HGNC]
  • MIR501:microRNA 501 [Gene - HGNC]
  • MIR502:microRNA 502 [Gene - OMIM - HGNC]
  • MIR532:microRNA 532 [Gene - OMIM - HGNC]
  • MIR548AJ2:microRNA 548aj-2 [Gene - HGNC]
  • MIR548AM:microRNA 548am [Gene - HGNC]
  • MIR548AX:microRNA 548ax [Gene - HGNC]
  • MIR548F5:microRNA 548f-5 [Gene - HGNC]
  • MIR6086:microRNA 6086 [Gene - HGNC]
  • MIR6089:microRNA 6089 [Gene - HGNC]
  • MIR6134:microRNA 6134 [Gene - HGNC]
  • MIR651:microRNA 651 [Gene - HGNC]
  • MIR660:microRNA 660 [Gene - HGNC]
  • MIR6857:microRNA 6857 [Gene - HGNC]
  • MIR6894:microRNA 6894 [Gene - HGNC]
  • MIR6895:microRNA 6895 [Gene - HGNC]
  • MIR8088:microRNA 8088 [Gene - HGNC]
  • MIR98:microRNA 98 [Gene - OMIM - HGNC]
  • MIRLET7F2:microRNA let-7f-2 [Gene - OMIM - HGNC]
  • MID1:midline 1 [Gene - OMIM - HGNC]
  • MPC1L:mitochondrial pyruvate carrier 1 like [Gene - HGNC]
  • MAP3K15:mitogen-activated protein kinase kinase kinase 15 [Gene - OMIM - HGNC]
  • MAOA:monoamine oxidase A [Gene - OMIM - HGNC]
  • MAOB:monoamine oxidase B [Gene - OMIM - HGNC]
  • MOSPD2:motile sperm domain containing 2 [Gene - HGNC]
  • NLGN4X:neuroligin 4 X-linked [Gene - OMIM - HGNC]
  • LOC106799844:nonconserved acetylation island sequence 104 enhancer [Gene]
  • NDP:norrin cystine knot growth factor NDP [Gene - OMIM - HGNC]
  • NR0B1:nuclear receptor subfamily 0 group B member 1 [Gene - OMIM - HGNC]
  • NUDT10:nudix hydrolase 10 [Gene - OMIM - HGNC]
  • NUDT11:nudix hydrolase 11 [Gene - OMIM - HGNC]
  • NYX:nyctalopin [Gene - OMIM - HGNC]
  • OTC:ornithine carbamoyltransferase [Gene - OMIM - HGNC]
  • PINCR:p53-induced noncoding RNA [Gene - HGNC]
  • PNPLA4:patatin like phospholipase domain containing 4 [Gene - OMIM - HGNC]
  • PTCHD1:patched domain containing 1 [Gene - OMIM - HGNC]
  • PRDX4:peroxiredoxin 4 [Gene - OMIM - HGNC]
  • PCYT1B:phosphate cytidylyltransferase 1, choline, beta [Gene - OMIM - HGNC]
  • PHEX:phosphate regulating endopeptidase homolog X-linked [Gene - OMIM - HGNC]
  • PIGA:phosphatidylinositol glycan anchor biosynthesis class A [Gene - OMIM - HGNC]
  • PLCXD1:phosphatidylinositol specific phospholipase C X domain containing 1 [Gene - OMIM - HGNC]
  • PRPS2:phosphoribosyl pyrophosphate synthetase 2 [Gene - OMIM - HGNC]
  • PHKA2:phosphorylase kinase regulatory subunit alpha 2 [Gene - OMIM - HGNC]
  • PIR:pirin [Gene - OMIM - HGNC]
  • PQBP1:polyglutamine binding protein 1 [Gene - OMIM - HGNC]
  • PORCN:porcupine O-acyltransferase [Gene - OMIM - HGNC]
  • KCND1:potassium voltage-gated channel subfamily D member 1 [Gene - OMIM - HGNC]
  • PRICKLE3:prickle planar cell polarity protein 3 [Gene - OMIM - HGNC]
  • PRRG1:proline rich and Gla domain 1 [Gene - OMIM - HGNC]
  • PCSK1N:proprotein convertase subtilisin/kexin type 1 inhibitor [Gene - OMIM - HGNC]
  • PRKX:protein kinase X-linked [Gene - OMIM - HGNC]
  • PPP1R3F:protein phosphatase 1 regulatory subunit 3F [Gene - HGNC]
  • PPP2R3B:protein phosphatase 2 regulatory subunit B''beta [Gene - OMIM - HGNC]
  • PPP4R3C:protein phosphatase 4 regulatory subunit 3C [Gene - HGNC]
  • PPEF1:protein phosphatase with EF-hand domain 1 [Gene - OMIM - HGNC]
  • PLP2:proteolipid protein 2 [Gene - OMIM - HGNC]
  • PUDP:pseudouridine 5'-phosphatase [Gene - OMIM - HGNC]
  • PDHA1:pyruvate dehydrogenase E1 alpha 1 subunit [Gene - OMIM - HGNC]
  • PDK3:pyruvate dehydrogenase kinase 3 [Gene - OMIM - HGNC]
  • RGN:regucalcin [Gene - OMIM - HGNC]
  • RPGR:retinitis pigmentosa GTPase regulator [Gene - OMIM - HGNC]
  • RAI2:retinoic acid induced 2 [Gene - OMIM - HGNC]
  • RS1:retinoschisin 1 [Gene - OMIM - HGNC]
  • RPS6KA3:ribosomal protein S6 kinase A3 [Gene - OMIM - HGNC]
  • SHOX:short stature homeobox [Gene - OMIM - OMIM - HGNC]
  • SHROOM2:shroom family member 2 [Gene - OMIM - HGNC]
  • SHROOM4:shroom family member 4 [Gene - OMIM - HGNC]
  • SCARNA23:small Cajal body-specific RNA 23 [Gene - HGNC]
  • SCARNA9L:small Cajal body-specific RNA 9 like [Gene - HGNC]
  • SMPX:small muscle protein X-linked [Gene - OMIM - OMIM - HGNC]
  • SNORA11C:small nucleolar RNA, H/ACA box 11C [Gene - HGNC]
  • SNORA11D:small nucleolar RNA, H/ACA box 11D [Gene - HGNC]
  • SNORA11E:small nucleolar RNA, H/ACA box 11E [Gene - HGNC]
  • SNORA48B:small nucleolar RNA, H/ACA box 48B [Gene - HGNC]
  • SLC25A6:solute carrier family 25 member 6 [Gene - OMIM - OMIM - HGNC]
  • SLC35A2:solute carrier family 35 member A2 [Gene - OMIM - HGNC]
  • SLC38A5:solute carrier family 38 member 5 [Gene - OMIM - HGNC]
  • SLC9A7:solute carrier family 9 member A7 [Gene - OMIM - HGNC]
  • SPACA5:sperm acrosome associated 5 [Gene - OMIM - HGNC]
  • SPACA5B:sperm acrosome associated 5B [Gene - HGNC]
  • SAT1:spermidine/spermine N1-acetyltransferase 1 [Gene - OMIM - HGNC]
  • SMS:spermine synthase [Gene - OMIM - HGNC]
  • STS:steroid sulfatase [Gene - OMIM - HGNC]
  • SMC1A:structural maintenance of chromosomes 1A [Gene - OMIM - HGNC]
  • SUV39H1:suppressor of variegation 3-9 homolog 1 [Gene - OMIM - HGNC]
  • SRPX:sushi repeat containing protein X-linked [Gene - OMIM - HGNC]
  • SYAP1:synapse associated protein 1 [Gene - HGNC]
  • SYN1:synapsin I [Gene - OMIM - HGNC]
  • SYP:synaptophysin [Gene - OMIM - HGNC]
  • SYTL5:synaptotagmin like 5 [Gene - HGNC]
  • TRI-GAT1-1:tRNA-Ile (anticodon GAT) 1-1 [Gene - HGNC]
  • TRI-GAT1-2:tRNA-Ile (anticodon GAT) 1-2 [Gene - HGNC]
  • TRI-GAT1-3:tRNA-Ile (anticodon GAT) 1-3 [Gene - HGNC]
  • TRV-TAC1-2:tRNA-Val (anticodon TAC) 1-2 [Gene - HGNC]
  • TXLNG:taxilin gamma [Gene - OMIM - HGNC]
  • TSPAN7:tetraspanin 7 [Gene - OMIM - HGNC]
  • TMSB4X:thymosin beta 4 X-linked [Gene - OMIM - HGNC]
  • TLR7:toll like receptor 7 [Gene - OMIM - HGNC]
  • TLR8:toll like receptor 8 [Gene - OMIM - HGNC]
  • TRAPPC2:trafficking protein particle complex 2 [Gene - OMIM - HGNC]
  • TCEANC:transcription elongation factor A N-terminal and central domain containing [Gene - HGNC]
  • TFE3:transcription factor binding to IGHM enhancer 3 [Gene - OMIM - HGNC]
  • TBL1X:transducin beta like 1 X-linked [Gene - OMIM - HGNC]
  • TIMM17B:translocase of inner mitochondrial membrane 17B [Gene - OMIM - HGNC]
  • TMEM47:transmembrane protein 47 [Gene - OMIM - HGNC]
  • UBA1:ubiquitin like modifier activating enzyme 1 [Gene - OMIM - HGNC]
  • USP11:ubiquitin specific peptidase 11 [Gene - OMIM - HGNC]
  • USP27X:ubiquitin specific peptidase 27 X-linked [Gene - OMIM - HGNC]
  • USP9X:ubiquitin specific peptidase 9 X-linked [Gene - OMIM - HGNC]
  • UXT:ubiquitously expressed prefoldin like chaperone [Gene - OMIM - HGNC]
  • LOC101927476:uncharacterized LOC101927476 [Gene]
  • LOC101927635:uncharacterized LOC101927635 [Gene]
  • LOC101928201:uncharacterized LOC101928201 [Gene]
  • LOC101928389:uncharacterized LOC101928389 [Gene]
  • LOC101928564:uncharacterized LOC101928564 [Gene]
  • LOC101928627:uncharacterized LOC101928627 [Gene]
  • GS1-594A7.3:uncharacterized LOC104798195 [Gene]
  • LOC105373156:uncharacterized LOC105373156 [Gene]
  • LOC729609:uncharacterized LOC729609 [Gene]
  • GS1-600G8.3:unknown transcript [Gene]
  • VCX2:variable charge X-linked 2 [Gene - OMIM - HGNC]
  • VCX3A:variable charge X-linked 3A [Gene - OMIM - HGNC]
  • VCX3B:variable charge X-linked 3B [Gene - OMIM - HGNC]
  • VCX:variable charge X-linked [Gene - OMIM - HGNC]
  • VEGFD:vascular endothelial growth factor D [Gene - OMIM - HGNC]
  • ZBED1:zinc finger BED-type containing 1 [Gene - OMIM - HGNC]
  • ZRSR2:zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 [Gene - OMIM - HGNC]
  • ZNF157:zinc finger protein 157 [Gene - OMIM - HGNC]
  • ZNF182:zinc finger protein 182 [Gene - OMIM - HGNC]
  • ZNF41:zinc finger protein 41 [Gene - OMIM - HGNC]
  • ZNF630:zinc finger protein 630 [Gene - OMIM - HGNC]
  • ZNF674:zinc finger protein 674 [Gene - OMIM - HGNC]
  • ZNF81:zinc finger protein 81 [Gene - OMIM - HGNC]
  • ZFX:zinc finger protein X-linked [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xp22.33-11.22
Genomic location:
Preferred name:
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3
HGVS:
  • NC_000023.11:g.(?_10479)_(54179172_?)dup
  • NC_000023.10:g.(?_60479)_(53957191_?)dup
  • NC_000023.9:g.(?_479)_(54222330_?)dup
Links:
dbVar: nssv579151; dbVar: nsv532481
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
SCV000081180ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratoriescriteria provided, single submitter
Pathogenic
(Aug 12, 2011)
not providedclinical testing

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

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 ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories, SCV000081180.5

#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 16, 2019

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