GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 AND See cases
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 16, 2015
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000512136.3
Allele description [Variation Report for GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1]
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1
- Genes:
- ALAS2:5'-aminolevulinate synthase 2 [Gene - OMIM - HGNC]
- PFKFB1:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 [Gene - OMIM - HGNC]
- ARAF:A-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
- AKAP4:A-kinase anchoring protein 4 [Gene - OMIM - HGNC]
- ARSD-AS1:ARSD 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]
- 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 - OMIM - 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]
- ERAS:ES cell expressed Ras [Gene - OMIM - HGNC]
- ELK1:ETS transcription factor ELK1 [Gene - OMIM - HGNC]
- FANCB:FA complementation group B [Gene - OMIM - HGNC]
- FRMPD4:FERM and PDZ domain containing 4 [Gene - OMIM - HGNC]
- FUNDC1:FUN14 domain containing 1 [Gene - OMIM - HGNC]
- FGD1:FYVE, RhoGEF and PH domain containing 1 [Gene - OMIM - HGNC]
- FTSJ1:FtsJ RNA 2'-O-methyltransferase 1 [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]
- GNL3L:G protein nucleolar 3 like [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]
- H2AP:H2A.P histone [Gene - HGNC]
- HUWE1:HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
- IQSEC2:IQ motif and Sec7 domain ArfGEF 2 [Gene - OMIM - HGNC]
- KRBOX4:KRAB box domain containing 4 [Gene - OMIM - HGNC]
- LANCL3:LanC like family member 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 - OMIM - 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]
- MAGED2:MAGE family member D2 [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]
- MID1IP1:MID1 interacting protein 1 [Gene - OMIM - HGNC]
- MSL3:MSL complex subunit 3 [Gene - OMIM - HGNC]
- MTRNR2L10:MT-RNR2 like 10 [Gene - HGNC]
- NDUFB11:NADH:ubiquinone oxidoreductase subunit B11 [Gene - OMIM - HGNC]
- NHS:NHS actin remodeling regulator [Gene - OMIM - HGNC]
- OFD1:OFD1 centriole and centriolar satellite protein [Gene - OMIM - HGNC]
- OTUD5:OTU deubiquitinase 5 [Gene - OMIM - HGNC]
- PAGE1:PAGE family member 1 [Gene - OMIM - HGNC]
- PAGE2:PAGE family member 2 [Gene - OMIM - HGNC]
- PAGE2B:PAGE family member 2B [Gene - HGNC]
- PAGE4:PAGE family member 4 [Gene - OMIM - HGNC]
- PHF8:PHD finger protein 8 [Gene - OMIM - HGNC]
- PRAF2:PRA1 domain family member 2 [Gene - OMIM - 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]
- SH3KBP1:SH3 domain containing kinase binding protein 1 [Gene - OMIM - HGNC]
- 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]
- SUV39H1:SUV39H1 histone lysine methyltransferase [Gene - OMIM - HGNC]
- SCML1:Scm polycomb group protein like 1 [Gene - OMIM - HGNC]
- SCML2:Scm polycomb group protein like 2 [Gene - OMIM - 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]
- TASL:TLR adaptor interacting with endolysosomal SLC15A4 [Gene - OMIM - HGNC]
- TSPYL2:TSPY like 2 [Gene - OMIM - HGNC]
- TSR2:TSR2 ribosome maturation factor [Gene - OMIM - HGNC]
- VCF2:VCP nuclear cofactor family member 2 [Gene - HGNC]
- 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]
- WNK3:WNK lysine deficient protein kinase 3 [Gene - OMIM - HGNC]
- WWC3:WWC family member 3 [Gene - OMIM - HGNC]
- XAGE1A:X antigen family member 1A [Gene - OMIM - HGNC]
- XAGE1B:X antigen family member 1B [Gene - 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 - OMIM - HGNC]
- XK:X-linked Kx blood group antigen, Kell and VPS13A binding protein [Gene - OMIM - HGNC]
- XG:Xg glycoprotein (Xg blood group) [Gene - OMIM - HGNC]
- YY2:YY2 transcription factor [Gene - 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 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]
- APEX2:apurinic/apyrimidinic endodeoxyribonuclease 2 [Gene - OMIM - HGNC]
- 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]
- CLCN4:chloride voltage-gated channel 4 [Gene - OMIM - HGNC]
- CLCN5:chloride voltage-gated channel 5 [Gene - OMIM - HGNC]
- CXorf38:chromosome X open reading frame 38 [Gene - OMIM - HGNC]
- CXorf58:chromosome X open reading frame 58 [Gene - HGNC]
- CFAP47:cilia and flagella associated protein 47 [Gene - OMIM - 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]
- 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]
- 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 120 member C [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 - OMIM - 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]
- 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 - OMIM - 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]
- ITIH6:inter-alpha-trypsin inhibitor heavy chain family member 6 [Gene - HGNC]
- IL1RAPL1:interleukin 1 receptor accessory protein like 1 [Gene - 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]
- LINC01560:long intergenic non-protein coding RNA 1560 [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]
- MBTPS2:membrane bound transcription factor peptidase, site 2 [Gene - OMIM - HGNC]
- MIR221:microRNA 221 [Gene - OMIM - HGNC]
- MIR222:microRNA 222 [Gene - OMIM - HGNC]
- MIR502:microRNA 502 [Gene - OMIM - HGNC]
- MIR532:microRNA 532 [Gene - OMIM - 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 - OMIM - 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 - OMIM - HGNC]
- NLGN4X:neuroligin 4 X-linked [Gene - OMIM - HGNC]
- 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 transcarbamylase [Gene - OMIM - 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 1B, choline [Gene - OMIM - HGNC]
- PHEX:phosphate regulating endopeptidase X-linked [Gene - OMIM - HGNC]
- PIGA:phosphatidylinositol glycan anchor biosynthesis class A [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 cAMP-dependent X-linked catalytic subunit [Gene - OMIM - HGNC]
- PPP1R3F:protein phosphatase 1 regulatory subunit 3F [Gene - OMIM - 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 subunit alpha 1 [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]
- SHROOM2:shroom family member 2 [Gene - OMIM - HGNC]
- SHROOM4:shroom family member 4 [Gene - OMIM - HGNC]
- SMPX:small muscle protein X-linked [Gene - OMIM - HGNC]
- SNORA11:small nucleolar RNA, H/ACA box 11 [Gene - 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]
- 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]
- 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 subunit 2 [Gene - OMIM - HGNC]
- TCEANC:transcription elongation factor A N-terminal and central domain containing [Gene - OMIM - 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]
- TRO:trophinin [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]
- 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]
- 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 loss
- Cytogenetic location:
- Xp22.33-11.21
- Genomic location:
- ChrX: 168546 - 55240087 (on Assembly GRCh37)
- Preferred name:
- GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1
- HGVS:
- NC_000023.10:g.(?_168546)_(55240087_?)delThis HGVS expression did not pass validation
- Links:
- dbVar: nssv13642642; dbVar: nsv2771597
- Observations:
- 1
Condition(s)
- Name:
- See cases [See the Variation display for details]
- Identifiers:
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000584838 | ISCA site 1
| no assertion criteria provided | Pathogenic (Feb 16, 2015) | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
human | not provided | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
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, SCV000584838.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | human | 1 | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided |
Last Updated: May 7, 2024