- replaced
GRCh37/hg19 Xp22.3-q28(chrX:60679-155251871)x1 AND Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 12, 2011
- Review status:
- 1 star out of maximum of 4 starsclassified by single submitter
- 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:
- RCV000050700.2
Allele description
GRCh37/hg19 Xp22.3-q28(chrX:60679-155251871)x1
- Genes:
- ABCB7:ATP-binding cassette, sub-family B (MDR/TAP), member 7 [Gene - OMIM]
- AGTR2:angiotensin II receptor, type 2 [Gene - OMIM]
- NR0B1:nuclear receptor subfamily 0, group B, member 1 [Gene - OMIM]
- ALAS2:aminolevulinate, delta-, synthase 2 [Gene - OMIM]
- ABCD1:ATP-binding cassette, sub-family D (ALD), member 1 [Gene - OMIM]
- AMELX:amelogenin, X-linked [Gene - OMIM]
- SLC25A5:solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 [Gene - OMIM]
- XIAP:X-linked inhibitor of apoptosis [Gene - OMIM]
- SHROOM2:shroom family member 2 [Gene - OMIM]
- AR:androgen receptor [Gene - OMIM]
- ARAF:A-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM]
- ARHGAP4:Rho GTPase activating protein 4 [Gene - OMIM]
- ARHGAP6:Rho GTPase activating protein 6 [Gene - OMIM]
- ARR3:arrestin 3, retinal (X-arrestin) [Gene - OMIM]
- STS:steroid sulfatase (microsomal), isozyme S [Gene - OMIM]
- ARSD:arylsulfatase D [Gene - OMIM]
- ARSE:arylsulfatase E (chondrodysplasia punctata 1) [Gene - OMIM]
- ARSF:arylsulfatase F [Gene - OMIM]
- ATP2B3:ATPase, Ca++ transporting, plasma membrane 3 [Gene - OMIM - OMIM]
- ATP6AP1:ATPase, H+ transporting, lysosomal accessory protein 1 [Gene - OMIM]
- ATP7A:ATPase, Cu++ transporting, alpha polypeptide [Gene - OMIM]
- ATRX:alpha thalassemia/mental retardation syndrome X-linked [Gene - OMIM]
- AVPR2:arginine vasopressin receptor 2 [Gene - OMIM]
- BGN:biglycan [Gene - OMIM]
- BMX:BMX non-receptor tyrosine kinase [Gene - OMIM]
- BRS3:bombesin-like receptor 3 [Gene - OMIM]
- BTK:Bruton agammaglobulinemia tyrosine kinase [Gene - OMIM]
- CACNA1F:calcium channel, voltage-dependent, L type, alpha 1F subunit [Gene - OMIM]
- S100G:S100 calcium binding protein G [Gene - OMIM]
- CAPN6:calpain 6 [Gene - OMIM]
- CD40LG:CD40 ligand [Gene - OMIM]
- CDR1:cerebellar degeneration-related protein 1, 34kDa [Gene - OMIM]
- CDX4:caudal type homeobox 4 [Gene - OMIM]
- CETN2:centrin, EF-hand protein, 2 [Gene - OMIM]
- CHM:choroideremia (Rab escort protein 1) [Gene - OMIM]
- CLCN4:chloride channel, voltage-sensitive 4 [Gene - OMIM]
- CLCN5:chloride channel, voltage-sensitive 5 [Gene - OMIM]
- CLIC2:chloride intracellular channel 2 [Gene - OMIM]
- CNGA2:cyclic nucleotide gated channel alpha 2 [Gene - OMIM]
- COL4A5:collagen, type IV, alpha 5 [Gene - OMIM]
- COL4A6:collagen, type IV, alpha 6 [Gene - OMIM]
- COX7B:cytochrome c oxidase subunit VIIb [Gene - OMIM]
- CSTF2:cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa [Gene - OMIM - OMIM]
- CTAG1B:cancer/testis antigen 1B [Gene - OMIM]
- TEX28:testis expressed 28 [Gene - OMIM]
- CYBB:cytochrome b-245, beta polypeptide [Gene - OMIM]
- CYLC1:cylicin, basic protein of sperm head cytoskeleton 1 [Gene - OMIM]
- DCX:doublecortin [Gene - OMIM]
- DDX3X:DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked [Gene - OMIM]
- TIMM8A:translocase of inner mitochondrial membrane 8 homolog A (yeast) [Gene - OMIM]
- DIAPH2:diaphanous-related formin 2 [Gene - OMIM]
- DKC1:dyskeratosis congenita 1, dyskerin [Gene - OMIM]
- DLG3:discs, large homolog 3 (Drosophila) [Gene - OMIM]
- DMD:dystrophin [Gene - OMIM]
- DNASE1L1:deoxyribonuclease I-like 1 [Gene - OMIM]
- DRP2:dystrophin related protein 2 [Gene - OMIM]
- TSC22D3:TSC22 domain family, member 3 [Gene - OMIM]
- DUSP9:dual specificity phosphatase 9 [Gene - OMIM]
- EDA:ectodysplasin A [Gene - OMIM]
- EFNB1:ephrin-B1 [Gene - OMIM]
- EIF1AX:eukaryotic translation initiation factor 1A, X-linked [Gene - OMIM]
- EIF2S3:eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa [Gene - OMIM]
- ELF4:E74-like factor 4 (ets domain transcription factor) [Gene - OMIM]
- ELK1:ELK1, member of ETS oncogene family [Gene - OMIM]
- EMD:emerin [Gene - OMIM]
- F8:coagulation factor VIII, procoagulant component [Gene - OMIM]
- F9:coagulation factor IX [Gene - OMIM]
- ACSL4:acyl-CoA synthetase long-chain family member 4 [Gene - OMIM]
- FANCB:Fanconi anemia, complementation group B [Gene - OMIM]
- GPC4:glypican 4 [Gene - OMIM]
- FGD1:FYVE, RhoGEF and PH domain containing 1 [Gene - OMIM]
- FGF13:fibroblast growth factor 13 [Gene - OMIM]
- FHL1:four and a half LIM domains 1 [Gene - OMIM]
- FIGF:c-fos induced growth factor (vascular endothelial growth factor D) [Gene - OMIM]
- FLNA:filamin A, alpha [Gene - OMIM]
- FMR1:fragile X mental retardation 1 [Gene - OMIM]
- AFF2:AF4/FMR2 family, member 2 [Gene - OMIM]
- CENPI:centromere protein I [Gene - OMIM]
- G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM]
- GAGE1:G antigen 1 [Gene - OMIM]
- GABRA3:gamma-aminobutyric acid (GABA) A receptor, alpha 3 [Gene - OMIM]
- GABRE:gamma-aminobutyric acid (GABA) A receptor, epsilon [Gene - OMIM]
- GAGE2C:G antigen 2C [Gene - OMIM]
- GATA1:GATA binding protein 1 (globin transcription factor 1) [Gene - OMIM]
- OPN1MW:opsin 1 (cone pigments), medium-wave-sensitive [Gene - OMIM]
- GDI1:GDP dissociation inhibitor 1 [Gene - OMIM]
- GJB1:gap junction protein, beta 1, 32kDa [Gene - OMIM]
- GK:glycerol kinase [Gene - OMIM]
- GLA:galactosidase, alpha [Gene - OMIM]
- GPC3:glypican 3 [Gene - OMIM]
- GLRA2:glycine receptor, alpha 2 [Gene - OMIM]
- GLUD2:glutamate dehydrogenase 2 [Gene - OMIM]
- GPM6B:glycoprotein M6B [Gene - OMIM]
- CXCR3:chemokine (C-X-C motif) receptor 3 [Gene - OMIM]
- LPAR4:lysophosphatidic acid receptor 4 [Gene - OMIM]
- GPR34:G protein-coupled receptor 34 [Gene - OMIM]
- GRIA3:glutamate receptor, ionotropic, AMPA 3 [Gene - OMIM]
- GRPR:gastrin-releasing peptide receptor [Gene - OMIM]
- GUCY2F:guanylate cyclase 2F, retinal [Gene - OMIM]
- HSD17B10:hydroxysteroid (17-beta) dehydrogenase 10 [Gene - OMIM]
- HCCS:holocytochrome c synthase [Gene - OMIM]
- HCFC1:host cell factor C1 [Gene - OMIM]
- HMGB3:high mobility group box 3 [Gene - OMIM]
- HNRNPH2:heterogeneous nuclear ribonucleoprotein H2 (H') [Gene - OMIM]
- HPRT1:hypoxanthine phosphoribosyltransferase 1 [Gene - OMIM]
- ERAS:ES cell expressed Ras [Gene - OMIM]
- HTR2C:5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled [Gene - OMIM]
- IDH3G:isocitrate dehydrogenase 3 (NAD+) gamma [Gene - OMIM]
- IDS:iduronate 2-sulfatase [Gene - OMIM]
- IGBP1:immunoglobulin (CD79A) binding protein 1 [Gene - OMIM]
- IGSF1:immunoglobulin superfamily, member 1 [Gene - OMIM]
- IL2RG:interleukin 2 receptor, gamma [Gene - OMIM]
- IL13RA1:interleukin 13 receptor, alpha 1 [Gene - OMIM]
- IL13RA2:interleukin 13 receptor, alpha 2 [Gene - OMIM]
- IRAK1:interleukin-1 receptor-associated kinase 1 [Gene - OMIM]
- KAL1:Kallmann syndrome 1 sequence [Gene - OMIM]
- KCND1:potassium voltage-gated channel, Shal-related subfamily, member 1 [Gene - OMIM]
- L1CAM:L1 cell adhesion molecule [Gene - OMIM]
- LAMP2:lysosomal-associated membrane protein 2 [Gene - OMIM]
- PRICKLE3:prickle homolog 3 (Drosophila) [Gene - OMIM]
- SH2D1A:SH2 domain containing 1A [Gene - OMIM]
- MAGEA1:melanoma antigen family A, 1 (directs expression of antigen MZ2-E) [Gene - OMIM]
- MAGEA2:melanoma antigen family A, 2 [Gene - OMIM]
- MAGEA3:melanoma antigen family A, 3 [Gene - OMIM]
- MAGEA4:melanoma antigen family A, 4 [Gene - OMIM]
- MAGEA5:melanoma antigen family A, 5 [Gene - OMIM]
- MAGEA6:melanoma antigen family A, 6 [Gene - OMIM]
- MAGEA8:melanoma antigen family A, 8 [Gene - OMIM]
- MAGEA9:melanoma antigen family A, 9 [Gene - OMIM]
- MAGEA10:melanoma antigen family A, 10 [Gene - OMIM]
- MAGEA11:melanoma antigen family A, 11 [Gene - OMIM]
- MAGEA12:melanoma antigen family A, 12 [Gene - OMIM]
- MAGEB1:melanoma antigen family B, 1 [Gene - OMIM]
- MAGEB2:melanoma antigen family B, 2 [Gene - OMIM]
- MAGEB3:melanoma antigen family B, 3 [Gene - OMIM]
- MAGEB4:melanoma antigen family B, 4 [Gene - OMIM]
- MAOA:monoamine oxidase A [Gene - OMIM]
- MAOB:monoamine oxidase B [Gene - OMIM]
- MCF2:MCF.2 cell line derived transforming sequence [Gene - OMIM]
- MECP2:methyl CpG binding protein 2 [Gene - OMIM]
- MID1:midline 1 [Gene - OMIM]
- FOXO4:forkhead box O4 [Gene - OMIM]
- MPP1:membrane protein, palmitoylated 1, 55kDa [Gene - OMIM]
- CITED1:Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 [Gene - OMIM]
- MSN:moesin [Gene - OMIM]
- MTCP1:mature T-cell proliferation 1 [Gene - OMIM]
- MTM1:myotubularin 1 [Gene - OMIM]
- MYCLP1:MYCL pseudogene 1 [Gene - OMIM]
- NAP1L2:nucleosome assembly protein 1-like 2 [Gene - OMIM]
- NAP1L3:nucleosome assembly protein 1-like 3 [Gene - OMIM]
- NDP:Norrie disease (pseudoglioma) [Gene - OMIM]
- NDUFA1:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa [Gene - OMIM]
- NHS:Nance-Horan syndrome (congenital cataracts and dental anomalies) [Gene - OMIM]
- NONO:non-POU domain containing, octamer-binding [Gene - OMIM]
- GPR143:G protein-coupled receptor 143 [Gene - OMIM]
- TBC1D25:TBC1 domain family, member 25 [Gene - OMIM]
- OCRL:oculocerebrorenal syndrome of Lowe [Gene - OMIM]
- OPHN1:oligophrenin 1 [Gene - OMIM]
- OTC:ornithine carbamoyltransferase [Gene - OMIM]
- P2RY4:pyrimidinergic receptor P2Y, G-protein coupled, 4 [Gene - OMIM]
- PAK3:p21 protein (Cdc42/Rac)-activated kinase 3 [Gene - OMIM]
- CDK16:cyclin-dependent kinase 16 [Gene - OMIM]
- PDHA1:pyruvate dehydrogenase (lipoamide) alpha 1 [Gene - OMIM]
- PDK3:pyruvate dehydrogenase kinase, isozyme 3 [Gene - OMIM - OMIM]
- CFP:complement factor properdin [Gene - OMIM]
- PFKFB1:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 [Gene - OMIM]
- PGK1:phosphoglycerate kinase 1 [Gene - OMIM]
- PHEX:phosphate regulating endopeptidase homolog, X-linked [Gene - OMIM]
- PHKA1:phosphorylase kinase, alpha 1 (muscle) [Gene - OMIM]
- PHKA2:phosphorylase kinase, alpha 2 (liver) [Gene - OMIM]
- PIGA:phosphatidylinositol glycan anchor biosynthesis, class A [Gene - OMIM]
- PIN4:protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) [Gene - OMIM]
- PLP1:proteolipid protein 1 [Gene - OMIM]
- PLP2:proteolipid protein 2 (colonic epithelium-enriched) [Gene - OMIM]
- PLS3:plastin 3 [Gene - OMIM]
- PLXNB3:plexin B3 [Gene - OMIM]
- POLA1:polymerase (DNA directed), alpha 1, catalytic subunit [Gene - OMIM]
- POU3F4:POU class 3 homeobox 4 [Gene - OMIM]
- PPEF1:protein phosphatase, EF-hand calcium binding domain 1 [Gene - OMIM]
- PRKX:protein kinase, X-linked [Gene - OMIM]
- PRPS1:phosphoribosyl pyrophosphate synthetase 1 [Gene - OMIM]
- PRPS2:phosphoribosyl pyrophosphate synthetase 2 [Gene - OMIM]
- PRRG1:proline rich Gla (G-carboxyglutamic acid) 1 [Gene - OMIM]
- PSMD10:proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 [Gene - OMIM - OMIM]
- RBBP7:retinoblastoma binding protein 7 [Gene - OMIM]
- RBM3:RNA binding motif (RNP1, RRM) protein 3 [Gene - OMIM]
- OPN1LW:opsin 1 (cone pigments), long-wave-sensitive [Gene - OMIM]
- RENBP:renin binding protein [Gene - OMIM]
- RP2:retinitis pigmentosa 2 (X-linked recessive) [Gene - OMIM]
- RPGR:retinitis pigmentosa GTPase regulator [Gene - OMIM]
- RPL10:ribosomal protein L10 [Gene - OMIM]
- RPL39:ribosomal protein L39 [Gene - OMIM - OMIM]
- RPL36A:ribosomal protein L36a [Gene - OMIM]
- RPS4X:ribosomal protein S4, X-linked [Gene - OMIM]
- RPS6KA3:ribosomal protein S6 kinase, 90kDa, polypeptide 3 [Gene - OMIM]
- RS1:retinoschisin 1 [Gene - OMIM]
- SAT1:spermidine/spermine N1-acetyltransferase 1 [Gene - OMIM]
- SCML1:sex comb on midleg-like 1 (Drosophila) [Gene - OMIM]
- TRAPPC2:trafficking protein particle complex 2 [Gene - OMIM]
- SH3BGRL:SH3 domain binding glutamate-rich protein like [Gene - OMIM]
- SLC6A8:solute carrier family 6 (neurotransmitter transporter), member 8 [Gene - OMIM]
- SLC16A2:solute carrier family 16, member 2 (thyroid hormone transporter) [Gene - OMIM]
- SMARCA1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 [Gene - OMIM]
- SMS:spermine synthase [Gene - OMIM]
- SOX3:SRY (sex determining region Y)-box 3 [Gene - OMIM]
- SSR4:signal sequence receptor, delta [Gene - OMIM]
- SSX1:synovial sarcoma, X breakpoint 1 [Gene - OMIM]
- SSX2:synovial sarcoma, X breakpoint 2 [Gene - OMIM]
- SSX5:synovial sarcoma, X breakpoint 5 [Gene - OMIM]
- SSX4:synovial sarcoma, X breakpoint 4 [Gene - OMIM]
- CDKL5:cyclin-dependent kinase-like 5 [Gene - OMIM]
- SUV39H1:suppressor of variegation 3-9 homolog 1 (Drosophila) [Gene - OMIM]
- SYN1:synapsin I [Gene - OMIM]
- SYP:synaptophysin [Gene - OMIM]
- TAF1:TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa [Gene - OMIM]
- TAZ:tafazzin [Gene - OMIM]
- SERPINA7:serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 [Gene - OMIM]
- TBL1X:transducin (beta)-like 1X-linked [Gene - OMIM]
- DYNLT3:dynein, light chain, Tctex-type 3 [Gene - OMIM]
- TFE3:transcription factor binding to IGHM enhancer 3 [Gene - OMIM]
- TIMP1:TIMP metallopeptidase inhibitor 1 [Gene - OMIM]
- TSPAN7:tetraspanin 7 [Gene - OMIM]
- TSPAN6:tetraspanin 6 [Gene - OMIM]
- TMSB4X:thymosin beta 4, X-linked [Gene - OMIM]
- TRO:trophinin [Gene - OMIM]
- TRPC5:transient receptor potential cation channel, subfamily C, member 5 [Gene - OMIM]
- UBA1:ubiquitin-like modifier activating enzyme 1 [Gene - OMIM]
- UBE2A:ubiquitin-conjugating enzyme E2A [Gene - OMIM]
- SLC35A2:solute carrier family 35 (UDP-galactose transporter), member A2 [Gene - OMIM]
- KDM6A:lysine (K)-specific demethylase 6A [Gene - OMIM]
- VBP1:von Hippel-Lindau binding protein 1 [Gene - OMIM]
- WAS:Wiskott-Aldrich syndrome [Gene - OMIM]
- XG:Xg blood group [Gene - OMIM]
- XIST:X inactive specific transcript (non-protein coding) [Gene - OMIM]
- XK:X-linked Kx blood group [Gene - OMIM]
- XPNPEP2:X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound [Gene - OMIM]
- ZFX:zinc finger protein, X-linked [Gene - OMIM]
- ZIC3:Zic family member 3 [Gene - OMIM]
- ZNF711:zinc finger protein 711 [Gene - OMIM]
- ZNF182:zinc finger protein 182 [Gene - OMIM]
- ZNF41:zinc finger protein 41 [Gene - OMIM]
- ZNF75D:zinc finger protein 75D [Gene - OMIM]
- ZNF157:zinc finger protein 157 [Gene - OMIM]
- RNF113A:ring finger protein 113A [Gene]
- ZNF185:zinc finger protein 185 (LIM domain) [Gene - OMIM]
- ZXDA:zinc finger, X-linked, duplicated A [Gene - OMIM]
- HDHD1:haloacid dehalogenase-like hydrolase domain containing 1 [Gene - OMIM]
- PNPLA4:patatin-like phospholipase domain containing 4 [Gene - OMIM]
- ZRSR2:zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 [Gene - OMIM]
- USP11:ubiquitin specific peptidase 11 [Gene - OMIM]
- USP9X:ubiquitin specific peptidase 9, X-linked [Gene - OMIM]
- RBM10:RNA binding motif protein 10 [Gene - OMIM]
- KDM5C:lysine (K)-specific demethylase 5C [Gene - OMIM]
- SMC1A:structural maintenance of chromosomes 1A [Gene - OMIM]
- NAA10:N(alpha)-acetyltransferase 10, NatA catalytic subunit [Gene - OMIM]
- F8A1:coagulation factor VIII-associated 1 [Gene - OMIM]
- UBL4A:ubiquitin-like 4A [Gene - OMIM]
- TMEM187:transmembrane protein 187 [Gene - OMIM]
- LAGE3:L antigen family, member 3 [Gene - OMIM]
- SLC10A3:solute carrier family 10, member 3 [Gene - OMIM]
- TKTL1:transketolase-like 1 [Gene - OMIM]
- SRPX:sushi-repeat containing protein, X-linked [Gene - OMIM]
- UXT:ubiquitously-expressed, prefoldin-like chaperone [Gene - OMIM]
- CUL4B:cullin 4B [Gene - OMIM]
- IRS4:insulin receptor substrate 4 [Gene - OMIM - OMIM]
- OGT:O-linked N-acetylglucosamine (GlcNAc) transferase [Gene - OMIM]
- OFD1:oral-facial-digital syndrome 1 [Gene - OMIM]
- IKBKG:inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma [Gene - OMIM]
- PIR:pirin (iron-binding nuclear protein) [Gene - OMIM]
- INE2:inactivation escape 2 (non-protein coding) [Gene - OMIM]
- INE1:inactivation escape 1 (non-protein coding) [Gene - OMIM]
- CASK:calcium/calmodulin-dependent serine protein kinase (MAGUK family) [Gene - OMIM]
- PAGE1:P antigen family, member 1 (prostate associated) [Gene - OMIM]
- MTMR1:myotubularin related protein 1 [Gene - OMIM]
- FGF16:fibroblast growth factor 16 [Gene - OMIM]
- AKAP4:A kinase (PRKA) anchor protein 4 [Gene - OMIM]
- APLN:apelin [Gene - OMIM]
- AP1S2:adaptor-related protein complex 1, sigma 2 subunit [Gene - OMIM]
- GYG2:glycogenin 2 [Gene - OMIM]
- FAM127A:family with sequence similarity 127, member A [Gene - OMIM]
- SLC25A14:solute carrier family 25 (mitochondrial carrier, brain), member 14 [Gene - OMIM]
- CLDN2:claudin 2 [Gene - OMIM]
- RGN:regucalcin [Gene - OMIM]
- FAM50A:family with sequence similarity 50, member A [Gene - OMIM]
- AIFM1:apoptosis-inducing factor, mitochondrion-associated, 1 [Gene - OMIM - OMIM]
- TMEM257:transmembrane protein 257 [Gene - OMIM]
- REPS2:RALBP1 associated Eps domain containing 2 [Gene - OMIM]
- ZMYM3:zinc finger, MYM-type 3 [Gene - OMIM]
- BMP15:bone morphogenetic protein 15 [Gene - OMIM]
- GPR50:G protein-coupled receptor 50 [Gene - OMIM]
- MED14:mediator complex subunit 14 [Gene - OMIM]
- TCEAL1:transcription elongation factor A (SII)-like 1 [Gene - OMIM]
- RAB33A:RAB33A, member RAS oncogene family [Gene - OMIM]
- RAB9A:RAB9A, member RAS oncogene family [Gene - OMIM]
- TSIX:TSIX transcript, XIST antisense RNA [Gene - OMIM]
- ITM2A:integral membrane protein 2A [Gene - OMIM]
- ARHGEF6:Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 [Gene - OMIM]
- PCYT1B:phosphate cytidylyltransferase 1, choline, beta [Gene - OMIM]
- MAGED1:melanoma antigen family D, 1 [Gene - OMIM]
- XAGE2:X antigen family, member 2 [Gene - OMIM]
- PAGE4:P antigen family, member 4 (prostate associated) [Gene - OMIM]
- MORF4L2:mortality factor 4 like 2 [Gene - OMIM]
- GPRASP1:G protein-coupled receptor associated sorting protein 1 [Gene - OMIM]
- STARD8:StAR-related lipid transfer (START) domain containing 8 [Gene - OMIM]
- FRMPD4:FERM and PDZ domain containing 4 [Gene - OMIM]
- JADE3:jade family PHD finger 3 [Gene - OMIM]
- ARMCX2:armadillo repeat containing, X-linked 2 [Gene - OMIM]
- HEPH:hephaestin [Gene - OMIM]
- MAGEC1:melanoma antigen family C, 1 [Gene - OMIM]
- AMMECR1:Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 [Gene - OMIM]
- MED12:mediator complex subunit 12 [Gene - OMIM]
- ZBTB33:zinc finger and BTB domain containing 33 [Gene - OMIM]
- HDAC6:histone deacetylase 6 [Gene - OMIM]
- MAMLD1:mastermind-like domain containing 1 [Gene - OMIM]
- HUWE1:HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase [Gene - OMIM]
- PQBP1:polyglutamine binding protein 1 [Gene - OMIM]
- BCAP31:B-cell receptor-associated protein 31 [Gene - OMIM]
- GPR64:G protein-coupled receptor 64 [Gene - OMIM]
- ATP6AP2:ATPase, H+ transporting, lysosomal accessory protein 2 [Gene - OMIM]
- TENM1:teneurin transmembrane protein 1 [Gene - OMIM]
- SSX3:synovial sarcoma, X breakpoint 3 [Gene - OMIM]
- TIMM17B:translocase of inner mitochondrial membrane 17 homolog B (yeast) [Gene - OMIM]
- RRAGB:Ras-related GTP binding B [Gene - OMIM]
- SCML2:sex comb on midleg-like 2 (Drosophila) [Gene - OMIM]
- SLC9A6:solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 [Gene - OMIM]
- ENOX2:ecto-NOX disulfide-thiol exchanger 2 [Gene - OMIM]
- PRDX4:peroxiredoxin 4 [Gene - OMIM - OMIM]
- EBP:emopamil binding protein (sterol isomerase) [Gene - OMIM]
- STAG2:stromal antigen 2 [Gene - OMIM]
- RAI2:retinoic acid induced 2 [Gene - OMIM]
- PLAC1:placenta-specific 1 [Gene - OMIM]
- CYSLTR1:cysteinyl leukotriene receptor 1 [Gene - OMIM]
- UTP14A:UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) [Gene - OMIM]
- ZNF275:zinc finger protein 275 [Gene]
- PGRMC1:progesterone receptor membrane component 1 [Gene - OMIM]
- MAGED2:melanoma antigen family D, 2 [Gene - OMIM]
- MSL3:male-specific lethal 3 homolog (Drosophila) [Gene - OMIM]
- TMSB15A:thymosin beta 15a [Gene - OMIM]
- PIM2:Pim-2 proto-oncogene, serine/threonine kinase [Gene - OMIM]
- MID2:midline 2 [Gene - OMIM]
- IL1RAPL1:interleukin 1 receptor accessory protein-like 1 [Gene - OMIM]
- WDR45:WD repeat domain 45 [Gene - OMIM]
- TREX2:three prime repair exonuclease 2 [Gene - OMIM]
- PRAF2:PRA1 domain family, member 2 [Gene - OMIM]
- CA5B:carbonic anhydrase VB, mitochondrial [Gene - OMIM]
- SLC6A14:solute carrier family 6 (amino acid transporter), member 14 [Gene - OMIM]
- KLF8:Kruppel-like factor 8 [Gene - OMIM]
- VSIG4:V-set and immunoglobulin domain containing 4 [Gene - OMIM]
- CNKSR2:connector enhancer of kinase suppressor of Ras 2 [Gene - OMIM]
- IQSEC2:IQ motif and Sec7 domain 2 [Gene - OMIM]
- PHF8:PHD finger protein 8 [Gene - OMIM]
- SEPT6:septin 6 [Gene - OMIM]
- ARHGEF9:Cdc42 guanine nucleotide exchange factor (GEF) 9 [Gene - OMIM]
- ATP1B4:ATPase, Na+/K+ transporting, beta 4 polypeptide [Gene]
- ACOT9:acyl-CoA thioesterase 9 [Gene - OMIM]
- KCNE1L:KCNE1-like [Gene - OMIM]
- LDOC1:leucine zipper, down-regulated in cancer 1 [Gene - OMIM]
- SMPX:small muscle protein, X-linked [Gene - OMIM - OMIM]
- GSPT2:G1 to S phase transition 2 [Gene - OMIM]
- KIF4A:kinesin family member 4A [Gene - OMIM]
- FTSJ1:FtsJ RNA methyltransferase homolog 1 (E. coli) [Gene - OMIM]
- HYPM:huntingtin interacting protein M [Gene]
- MXRA5:matrix-remodelling associated 5 [Gene]
- EGFL6:EGF-like-domain, multiple 6 [Gene - OMIM]
- FAM127B:family with sequence similarity 127, member B [Gene]
- IL1RAPL2:interleukin 1 receptor accessory protein-like 2 [Gene - OMIM]
- ITGB1BP2:integrin beta 1 binding protein (melusin) 2 [Gene - OMIM]
- SRPK3:SRSF protein kinase 3 [Gene]
- VCX:variable charge, X-linked [Gene - OMIM]
- GAGE12I:G antigen 12I [Gene - OMIM]
- GAGE2E:G antigen 2E [Gene - OMIM]
- NGFRAP1:nerve growth factor receptor (TNFRSF16) associated protein 1 [Gene - OMIM]
- NOX1:NADPH oxidase 1 [Gene - OMIM]
- FAM155B:family with sequence similarity 155, member B [Gene]
- INGX:inhibitor of growth family, X-linked, pseudogene [Gene - OMIM]
- GPR82:G protein-coupled receptor 82 [Gene - OMIM]
- GPKOW:G patch domain and KOW motifs [Gene]
- SRPX2:sushi-repeat containing protein, X-linked 2 [Gene - OMIM]
- APEX2:APEX nuclease (apurinic/apyrimidinic endonuclease) 2 [Gene - OMIM]
- RBMX:RNA binding motif protein, X-linked [Gene - OMIM]
- PCDH11X:protocadherin 11 X-linked [Gene - OMIM]
- RPS6KA6:ribosomal protein S6 kinase, 90kDa, polypeptide 6 [Gene - OMIM]
- P2RY10:purinergic receptor P2Y, G-protein coupled, 10 [Gene - OMIM]
- HTATSF1:HIV-1 Tat specific factor 1 [Gene - OMIM]
- PCSK1N:proprotein convertase subtilisin/kexin type 1 inhibitor [Gene - OMIM]
- CCDC22:coiled-coil domain containing 22 [Gene - OMIM]
- MCTS1:malignant T cell amplified sequence 1 [Gene - OMIM]
- MAGEH1:melanoma antigen family H, 1 [Gene - OMIM]
- FAM156A:family with sequence similarity 156, member A [Gene]
- C1GALT1C1:C1GALT1-specific chaperone 1 [Gene - OMIM]
- SNX12:sorting nexin 12 [Gene - OMIM]
- RPA4:replication protein A4, 30kDa [Gene - OMIM]
- PNMA3:paraneoplastic Ma antigen 3 [Gene - OMIM]
- UBQLN2:ubiquilin 2 [Gene - OMIM]
- SH3KBP1:SH3-domain kinase binding protein 1 [Gene - OMIM]
- SPANXA1:sperm protein associated with the nucleus, X-linked, family member A1 [Gene - OMIM]
- CTAG2:cancer/testis antigen 2 [Gene - OMIM]
- NSDHL:NAD(P) dependent steroid dehydrogenase-like [Gene - OMIM]
- FOXP3:forkhead box P3 [Gene - OMIM]
- TBX22:T-box 22 [Gene - OMIM]
- ZDHHC9:zinc finger, DHHC-type containing 9 [Gene - OMIM]
- RLIM:ring finger protein, LIM domain interacting [Gene - OMIM]
- WBP5:WW domain binding protein 5 [Gene]
- RAB9B:RAB9B, member RAS oncogene family [Gene - OMIM]
- LUZP4:leucine zipper protein 4 [Gene - OMIM]
- PDZD11:PDZ domain containing 11 [Gene - OMIM]
- PBDC1:polysaccharide biosynthesis domain containing 1 [Gene]
- TFDP3:transcription factor Dp family, member 3 [Gene - OMIM]
- TLR7:toll-like receptor 7 [Gene - OMIM]
- ARMCX1:armadillo repeat containing, X-linked 1 [Gene - OMIM]
- TLR8:toll-like receptor 8 [Gene - OMIM]
- MBTPS2:membrane-bound transcription factor peptidase, site 2 [Gene - OMIM]
- MAGEC2:melanoma antigen family C, 2 [Gene - OMIM]
- VGLL1:vestigial-like family member 1 [Gene - OMIM]
- VCX2:variable charge, X-linked 2 [Gene - OMIM]
- VCX3A:variable charge, X-linked 3A [Gene - OMIM]
- ARMCX3:armadillo repeat containing, X-linked 3 [Gene - OMIM]
- TAF9B:TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa [Gene - OMIM]
- RBMX2:RNA binding motif protein, X-linked 2 [Gene]
- MST4:serine/threonine protein kinase MST4 [Gene - OMIM]
- CPXCR1:CPX chromosome region, candidate 1 [Gene]
- CHIC1:cysteine-rich hydrophobic domain 1 [Gene - OMIM]
- FTHL17:ferritin, heavy polypeptide-like 17 [Gene - OMIM]
- GPR173:G protein-coupled receptor 173 [Gene - OMIM]
- NLGN3:neuroligin 3 [Gene - OMIM]
- SASH3:SAM and SH3 domain containing 3 [Gene - OMIM]
- TAF7L:TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa [Gene - OMIM]
- SPIN2A:spindlin family, member 2A [Gene - OMIM]
- ARMCX6:armadillo repeat containing, X-linked 6 [Gene]
- WDR44:WD repeat domain 44 [Gene]
- NDUFB11:NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa [Gene - OMIM]
- GNL3L:guanine nucleotide binding protein-like 3 (nucleolar)-like [Gene - OMIM]
- ERCC6L:excision repair cross-complementation group 6-like [Gene - OMIM]
- NUP62CL:nucleoporin 62kDa C-terminal like [Gene]
- GDPD2:glycerophosphodiester phosphodiesterase domain containing 2 [Gene]
- BCOR:BCL6 corepressor [Gene - OMIM]
- TBC1D8B:TBC1 domain family, member 8B (with GRAM domain) [Gene]
- FAM120C:family with sequence similarity 120C [Gene - OMIM]
- GEMIN8:gem (nuclear organelle) associated protein 8 [Gene]
- CT55:cancer/testis antigen 55 [Gene]
- TMEM255A:transmembrane protein 255A [Gene]
- CXorf57:chromosome X open reading frame 57 [Gene]
- NUDT11:nudix (nucleoside diphosphate linked moiety X)-type motif 11 [Gene - OMIM]
- TMLHE:trimethyllysine hydroxylase, epsilon [Gene - OMIM]
- RBM41:RNA binding motif protein 41 [Gene]
- SAGE1:sarcoma antigen 1 [Gene - OMIM]
- PLXNA3:plexin A3 [Gene - OMIM]
- HAUS7:HAUS augmin-like complex, subunit 7 [Gene - OMIM]
- OTUD5:OTU deubiquitinase 5 [Gene - OMIM]
- ZNF280C:zinc finger protein 280C [Gene]
- MTMR8:myotubularin related protein 8 [Gene]
- KRBOX4:KRAB box domain containing 4 [Gene - OMIM]
- TXLNG:taxilin gamma [Gene - OMIM]
- MBNL3:muscleblind-like splicing regulator 3 [Gene - OMIM]
- WWC3:WWC family member 3 [Gene]
- BEX1:brain expressed, X-linked 1 [Gene - OMIM]
- HDAC8:histone deacetylase 8 [Gene - OMIM - OMIM]
- GABRQ:gamma-aminobutyric acid (GABA) A receptor, theta [Gene - OMIM]
- ZC4H2:zinc finger, C4H2 domain containing [Gene - OMIM]
- NXT2:nuclear transport factor 2-like export factor 2 [Gene - OMIM]
- NKRF:NFKB repressing factor [Gene - OMIM]
- NXF5:nuclear RNA export factor 5 [Gene - OMIM]
- NXF4:nuclear RNA export factor 4 pseudogene [Gene - OMIM]
- NXF3:nuclear RNA export factor 3 [Gene - OMIM]
- NXF2:nuclear RNA export factor 2 [Gene - OMIM]
- KLHL4:kelch-like family member 4 [Gene - OMIM]
- TEX13B:testis expressed 13B [Gene - OMIM]
- TEX13A:testis expressed 13A [Gene - OMIM]
- TEX11:testis expressed 11 [Gene - OMIM]
- MOSPD1:motile sperm domain containing 1 [Gene - OMIM]
- BEX4:brain expressed, X-linked 4 [Gene - OMIM]
- CTPS2:CTP synthase 2 [Gene - OMIM]
- CHST7:carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 [Gene - OMIM]
- TCEAL7:transcription elongation factor A (SII)-like 7 [Gene - OMIM]
- GRIPAP1:GRIP1 associated protein 1 [Gene - OMIM]
- THOC2:THO complex 2 [Gene - OMIM]
- ZNF630:zinc finger protein 630 [Gene - OMIM]
- TMEM27:transmembrane protein 27 [Gene - OMIM]
- SHROOM4:shroom family member 4 [Gene - OMIM]
- NLGN4X:neuroligin 4, X-linked [Gene - OMIM]
- PCDH19:protocadherin 19 [Gene - OMIM]
- RGAG1:retrotransposon gag domain containing 1 [Gene]
- PDZD4:PDZ domain containing 4 [Gene - OMIM]
- LRCH2:leucine-rich repeats and calponin homology (CH) domain containing 2 [Gene]
- MAGEE1:melanoma antigen family E, 1 [Gene - OMIM]
- RAP2C:RAP2C, member of RAS oncogene family [Gene]
- MID1IP1:MID1 interacting protein 1 [Gene]
- ACE2:angiotensin I converting enzyme 2 [Gene - OMIM]
- TMEM35:transmembrane protein 35 [Gene]
- FAM3A:family with sequence similarity 3, member A [Gene - OMIM]
- EDA2R:ectodysplasin A2 receptor [Gene - OMIM]
- NYX:nyctalopin [Gene - OMIM]
- BCORL1:BCL6 corepressor-like 1 [Gene - OMIM]
- DUSP21:dual specificity phosphatase 21 [Gene - OMIM]
- CXorf56:chromosome X open reading frame 56 [Gene]
- DMRTC1:DMRT-like family C1 [Gene - OMIM]
- TSPYL2:TSPY-like 2 [Gene - OMIM]
- TNMD:tenomodulin [Gene - OMIM]
- PJA1:praja ring finger 1, E3 ubiquitin protein ligase [Gene - OMIM]
- SPANXD:SPANX family, member D [Gene - OMIM - OMIM]
- SPANXC:SPANX family, member C [Gene - OMIM]
- WDR13:WD repeat domain 13 [Gene - OMIM]
- PORCN:porcupine homolog (Drosophila) [Gene - OMIM]
- ARMCX5:armadillo repeat containing, X-linked 5 [Gene]
- UPF3B:UPF3 regulator of nonsense transcripts homolog B (yeast) [Gene - OMIM]
- WNK3:WNK lysine deficient protein kinase 3 [Gene - OMIM]
- FUNDC2:FUN14 domain containing 2 [Gene]
- PRRG3:proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) [Gene - OMIM]
- APOO:apolipoprotein O [Gene - OMIM]
- BRCC3:BRCA1/BRCA2-containing complex, subunit 3 [Gene - OMIM]
- HMGN5:high mobility group nucleosome binding domain 5 [Gene - OMIM]
- NKAP:NFKB activating protein [Gene - OMIM]
- RNF128:ring finger protein 128, E3 ubiquitin protein ligase [Gene - OMIM]
- MAP7D3:MAP7 domain containing 3 [Gene]
- MORC4:MORC family CW-type zinc finger 4 [Gene]
- CXorf36:chromosome X open reading frame 36 [Gene]
- LONRF3:LON peptidase N-terminal domain and ring finger 3 [Gene]
- ALG13:ALG13, UDP-N-acetylglucosaminyltransferase subunit [Gene - OMIM]
- MAGIX:MAGI family member, X-linked [Gene]
- TCEAL4:transcription elongation factor A (SII)-like 4 [Gene]
- TRMT2B:tRNA methyltransferase 2 homolog B (S. cerevisiae) [Gene]
- POF1B:premature ovarian failure, 1B [Gene - OMIM]
- CXorf21:chromosome X open reading frame 21 [Gene]
- EFHC2:EF-hand domain (C-terminal) containing 2 [Gene - OMIM]
- KLHL15:kelch-like family member 15 [Gene]
- ESX1:ESX homeobox 1 [Gene - OMIM]
- BHLHB9:basic helix-loop-helix domain containing, class B, 9 [Gene - OMIM]
- MAGED4B:melanoma antigen family D, 4B [Gene - OMIM]
- LAS1L:LAS1-like (S. cerevisiae) [Gene]
- GPR101:G protein-coupled receptor 101 [Gene - OMIM]
- TMEM47:transmembrane protein 47 [Gene - OMIM]
- CD99L2:CD99 molecule-like 2 [Gene - OMIM]
- H2AFB3:H2A histone family, member B3 [Gene - OMIM]
- USP26:ubiquitin specific peptidase 26 [Gene - OMIM]
- MAGT1:magnesium transporter 1 [Gene - OMIM]
- TMEM164:transmembrane protein 164 [Gene]
- PHF6:PHD finger protein 6 [Gene - OMIM]
- FRMPD3:FERM and PDZ domain containing 3 [Gene]
- ZMAT1:zinc finger, matrin-type 1 [Gene]
- RHOXF2:Rhox homeobox family, member 2 [Gene - OMIM]
- TMEM185A:transmembrane protein 185A [Gene - OMIM]
- SLITRK2:SLIT and NTRK-like family, member 2 [Gene - OMIM]
- GPR174:G protein-coupled receptor 174 [Gene - OMIM]
- SLC9A7:solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 [Gene - OMIM]
- BEX2:brain expressed X-linked 2 [Gene - OMIM]
- SLC7A3:solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 [Gene - OMIM]
- PNMA6A:paraneoplastic Ma antigen family member 6A [Gene - OMIM]
- TCEAL3:transcription elongation factor A (SII)-like 3 [Gene]
- CCNB3:cyclin B3 [Gene - OMIM]
- PPP1R3F:protein phosphatase 1, regulatory subunit 3F [Gene]
- FATE1:fetal and adult testis expressed 1 [Gene - OMIM]
- CCDC120:coiled-coil domain containing 120 [Gene]
- TSR2:TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) [Gene]
- HS6ST2:heparan sulfate 6-O-sulfotransferase 2 [Gene - OMIM]
- FRMD7:FERM domain containing 7 [Gene - OMIM]
- KLHL13:kelch-like family member 13 [Gene - OMIM]
- TGIF2LX:TGFB-induced factor homeobox 2-like, X-linked [Gene - OMIM]
- FAM104B:family with sequence similarity 104, member B [Gene]
- PAGE5:P antigen family, member 5 (prostate associated) [Gene]
- TCEAL8:transcription elongation factor A (SII)-like 8 [Gene]
- CHRDL1:chordin-like 1 [Gene - OMIM - OMIM]
- CXorf40A:chromosome X open reading frame 40A [Gene]
- FAM58A:family with sequence similarity 58, member A [Gene - OMIM]
- RIPPLY1:ripply transcriptional repressor 1 [Gene - OMIM]
- ATXN3L:ataxin 3-like [Gene - OMIM]
- SLC38A5:solute carrier family 38, member 5 [Gene - OMIM]
- MMGT1:membrane magnesium transporter 1 [Gene]
- ACRC:acidic repeat containing [Gene - OMIM]
- SYAP1:synapse associated protein 1 [Gene]
- SYTL4:synaptotagmin-like 4 [Gene - OMIM]
- SYTL5:synaptotagmin-like 5 [Gene]
- PNMA5:paraneoplastic Ma antigen family member 5 [Gene - OMIM]
- GPRASP2:G protein-coupled receptor associated sorting protein 2 [Gene]
- ATG4A:autophagy related 4A, cysteine peptidase [Gene - OMIM]
- RAB39B:RAB39B, member RAS oncogene family [Gene - OMIM - OMIM]
- DACH2:dachshund family transcription factor 2 [Gene - OMIM]
- SLITRK4:SLIT and NTRK-like family, member 4 [Gene - OMIM]
- SPANXN3:SPANX family, member N3 [Gene - OMIM]
- MAGEC3:melanoma antigen family C, 3 [Gene - OMIM]
- BEND2:BEN domain containing 2 [Gene]
- PASD1:PAS domain containing 1 [Gene]
- DCAF12L1:DDB1 and CUL4 associated factor 12-like 1 [Gene]
- DGKK:diacylglycerol kinase, kappa [Gene - OMIM]
- PIH1D3:PIH1 domain containing 3 [Gene]
- MUM1L1:melanoma associated antigen (mutated) 1-like 1 [Gene]
- FAM199X:family with sequence similarity 199, X-linked [Gene]
- AMER1:APC membrane recruitment protein 1 [Gene - OMIM]
- APOOL:apolipoprotein O-like [Gene]
- HDX:highly divergent homeobox [Gene]
- FUNDC1:FUN14 domain containing 1 [Gene - OMIM]
- GPR112:G protein-coupled receptor 112 [Gene]
- PTCHD1:patched domain containing 1 [Gene - OMIM]
- MAGEB10:melanoma antigen family B, 10 [Gene - OMIM]
- DCAF8L1:DDB1 and CUL4 associated factor 8-like 1 [Gene]
- OTUD6A:OTU deubiquitinase 6A [Gene - OMIM]
- UPRT:uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) [Gene - OMIM]
- MAGEE2:melanoma antigen family E, 2 [Gene - OMIM]
- MAGEB16:melanoma antigen family B, 16 [Gene - OMIM]
- FOXR2:forkhead box R2 [Gene]
- GAB3:GRB2-associated binding protein 3 [Gene - OMIM]
- PNCK:pregnancy up-regulated nonubiquitous CaM kinase [Gene - OMIM]
- ZFP92:ZFP92 zinc finger protein [Gene]
- ACTRT1:actin-related protein T1 [Gene - OMIM]
- GPR119:G protein-coupled receptor 119 [Gene - OMIM]
- PAGE3:P antigen family, member 3 (prostate associated) [Gene - OMIM]
- RBMXL3:RNA binding motif protein, X-linked-like 3 [Gene]
- DOCK11:dedicator of cytokinesis 11 [Gene - OMIM]
- SPIN4:spindlin family, member 4 [Gene]
- ASB11:ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase [Gene - OMIM]
- ASB9:ankyrin repeat and SOCS box containing 9 [Gene - OMIM]
- TCEAL2:transcription elongation factor A (SII)-like 2 [Gene]
- PABPC5:poly(A) binding protein, cytoplasmic 5 [Gene - OMIM]
- RAB40A:RAB40A, member RAS oncogene family [Gene]
- ASB12:ankyrin repeat and SOCS box containing 12 [Gene - OMIM]
- AMOT:angiomotin [Gene - OMIM]
- ZNF645:zinc finger protein 645 [Gene]
- CSAG1:chondrosarcoma associated gene 1 [Gene]
- FMR1NB:fragile X mental retardation 1 neighbor [Gene]
- FAAH2:fatty acid amide hydrolase 2 [Gene - OMIM]
- ZXDB:zinc finger, X-linked, duplicated B [Gene - OMIM]
- FAM47A:family with sequence similarity 47, member A [Gene]
- MOSPD2:motile sperm domain containing 2 [Gene]
- ARHGAP36:Rho GTPase activating protein 36 [Gene]
- RIBC1:RIB43A domain with coiled-coils 1 [Gene]
- AKAP14:A kinase (PRKA) anchor protein 14 [Gene - OMIM]
- RHOXF1:Rhox homeobox family, member 1 [Gene - OMIM]
- MAGEB6:melanoma antigen family B, 6 [Gene - OMIM]
- CXorf65:chromosome X open reading frame 65 [Gene]
- AWAT1:acyl-CoA wax alcohol acyltransferase 1 [Gene - OMIM]
- AWAT2:acyl-CoA wax alcohol acyltransferase 2 [Gene - OMIM]
- ZDHHC15:zinc finger, DHHC-type containing 15 [Gene - OMIM]
- USP51:ubiquitin specific peptidase 51 [Gene]
- TCEAL6:transcription elongation factor A (SII)-like 6 [Gene]
- H2BFWT:H2B histone family, member W, testis-specific [Gene - OMIM]
- CXorf38:chromosome X open reading frame 38 [Gene]
- FAM122B:family with sequence similarity 122B [Gene]
- FAM122C:family with sequence similarity 122C [Gene]
- DDX53:DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 [Gene]
- FAM46D:family with sequence similarity 46, member D [Gene]
- SPIN3:spindlin family, member 3 [Gene]
- FAM47B:family with sequence similarity 47, member B [Gene]
- CXorf22:chromosome X open reading frame 22 [Gene]
- SUPT20HL2:suppressor of Ty 20 homolog (S. cerevisiae)-like 2 [Gene]
- TCEANC:transcription elongation factor A (SII) N-terminal and central domain containing [Gene]
- ZCCHC12:zinc finger, CCHC domain containing 12 [Gene - OMIM]
- ARX:aristaless related homeobox [Gene - OMIM]
- XAGE3:X antigen family, member 3 [Gene - OMIM]
- XAGE5:X antigen family, member 5 [Gene]
- NUDT10:nudix (nucleoside diphosphate linked moiety X)-type motif 10 [Gene - OMIM]
- FAM9A:family with sequence similarity 9, member A [Gene - OMIM]
- FAM9B:family with sequence similarity 9, member B [Gene - OMIM]
- FAM9C:family with sequence similarity 9, member C [Gene - OMIM]
- CT83:cancer/testis antigen 83 [Gene - OMIM]
- SLC25A43:solute carrier family 25, member 43 [Gene - OMIM]
- ZCCHC5:zinc finger, CCHC domain containing 5 [Gene]
- NRK:Nik related kinase [Gene - OMIM]
- DDX26B:DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B [Gene]
- ZNF449:zinc finger protein 449 [Gene - OMIM]
- VMA21:VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) [Gene - OMIM]
- TMEM31:transmembrane protein 31 [Gene]
- PAGE2:P antigen family, member 2 (prostate associated) [Gene - OMIM]
- CTAG1A:cancer/testis antigen 1A [Gene - OMIM]
- BRWD3:bromodomain and WD repeat domain containing 3 [Gene - OMIM]
- CXorf58:chromosome X open reading frame 58 [Gene]
- CT47A11:cancer/testis antigen family 47, member A11 [Gene - OMIM]
- CXorf23:chromosome X open reading frame 23 [Gene]
- MAP7D2:MAP7 domain containing 2 [Gene]
- KLHL34:kelch-like family member 34 [Gene]
- TAB3:TGF-beta activated kinase 1/MAP3K7 binding protein 3 [Gene - OMIM]
- MAGEA2B:melanoma antigen family A, 2B [Gene - OMIM]
- SSX6:synovial sarcoma, X breakpoint 6 (pseudogene) [Gene - OMIM]
- SSX7:synovial sarcoma, X breakpoint 7 [Gene - OMIM]
- SSX8:synovial sarcoma, X breakpoint 8 [Gene - OMIM]
- SSX9:synovial sarcoma, X breakpoint 9 [Gene - OMIM]
- RAB40AL:RAB40A, member RAS oncogene family-like [Gene - OMIM]
- ATP11C:ATPase, class VI, type 11C [Gene - OMIM]
- H2BFM:H2B histone family, member M [Gene]
- YIPF6:Yip1 domain family, member 6 [Gene]
- CHDC2:calponin homology domain containing 2 [Gene]
- FAM133A:family with sequence similarity 133, member A [Gene]
- MAGEB18:melanoma antigen family B, 18 [Gene]
- TMSB15B:thymosin beta 15B [Gene]
- RGAG4:retrotransposon gag domain containing 4 [Gene]
- NHSL2:NHS-like 2 [Gene]
- PABPC1L2A:poly(A) binding protein, cytoplasmic 1-like 2A [Gene]
- KIAA2022:KIAA2022 [Gene - OMIM]
- BEX5:brain expressed, X-linked 5 [Gene - OMIM]
- TCEAL5:transcription elongation factor A (SII)-like 5 [Gene]
- VSIG1:V-set and immunoglobulin domain containing 1 [Gene - OMIM]
- ZC3H12B:zinc finger CCCH-type containing 12B [Gene - OMIM]
- SATL1:spermidine/spermine N1-acetyl transferase-like 1 [Gene]
- DCAF12L2:DDB1 and CUL4 associated factor 12-like 2 [Gene]
- ZCCHC16:zinc finger, CCHC domain containing 16 [Gene]
- LHFPL1:lipoma HMGIC fusion partner-like 1 [Gene - OMIM]
- ZNF81:zinc finger protein 81 [Gene - OMIM]
- ITIH6:inter-alpha-trypsin inhibitor heavy chain family, member 6 [Gene]
- LANCL3:LanC lantibiotic synthetase component C-like 3 (bacterial) [Gene]
- MPC1L:mitochondrial pyruvate carrier 1-like [Gene]
- DCAF8L2:DDB1 and CUL4 associated factor 8-like 2 [Gene]
- SOWAHD:sosondowah ankyrin repeat domain family member D [Gene]
- OR13H1:olfactory receptor, family 13, subfamily H, member 1 [Gene]
- CCDC160:coiled-coil domain containing 160 [Gene]
- CXorf66:chromosome X open reading frame 66 [Gene]
- DGAT2L6:diacylglycerol O-acyltransferase 2-like 6 [Gene - OMIM]
- RAB41:RAB41, member RAS oncogene family [Gene]
- ARSH:arylsulfatase family, member H [Gene - OMIM]
- MAGEB5:melanoma antigen family B, 5 [Gene - OMIM]
- MAP3K15:mitogen-activated protein kinase kinase kinase 15 [Gene - OMIM]
- SPACA5:sperm acrosome associated 5 [Gene - OMIM]
- USP27X:ubiquitin specific peptidase 27, X-linked [Gene]
- PAGE2B:P antigen family, member 2B [Gene]
- ZCCHC13:zinc finger, CCHC domain containing 13 [Gene]
- UBE2NL:ubiquitin-conjugating enzyme E2N-like [Gene]
- CSAG3:CSAG family, member 3 [Gene]
- GLOD5:glyoxalase domain containing 5 [Gene]
- ARL13A:ADP-ribosylation factor-like 13A [Gene]
- SLC25A53:solute carrier family 25, member 53 [Gene]
- XKRX:XK, Kell blood group complex subunit-related, X-linked [Gene - OMIM]
- YY2:YY2 transcription factor [Gene - OMIM]
- MIRLET7F2:microRNA let-7f-2 [Gene - OMIM]
- MIR105-1:microRNA 105-1 [Gene - OMIM]
- MIR105-2:microRNA 105-2 [Gene - OMIM]
- MIR106A:microRNA 106a [Gene - OMIM]
- MIR19B2:microRNA 19b-2 [Gene - OMIM]
- MIR221:microRNA 221 [Gene - OMIM]
- MIR222:microRNA 222 [Gene - OMIM]
- MIR223:microRNA 223 [Gene - OMIM]
- MIR224:microRNA 224 [Gene - OMIM]
- MIR98:microRNA 98 [Gene - OMIM]
- VCX3B:variable charge, X-linked 3B [Gene]
- FTH1P18:ferritin, heavy polypeptide 1 pseudogene 18 [Gene]
- GLRA4:glycine receptor, alpha 4 [Gene]
- FAM127C:family with sequence similarity 127, member C [Gene]
- CT45A3:cancer/testis antigen family 45, member A3 [Gene - OMIM]
- CT45A4:cancer/testis antigen family 45, member A4 [Gene - OMIM]
- CT45A5:cancer/testis antigen family 45, member A5 [Gene - OMIM]
- SPANXN4:SPANX family, member N4 [Gene - OMIM]
- PGAM4:phosphoglycerate mutase family member 4 [Gene - OMIM]
- FAM47C:family with sequence similarity 47, member C [Gene]
- SPIN2B:spindlin family, member 2B [Gene - OMIM]
- H2AFB2:H2A histone family, member B2 [Gene]
- H2AFB1:H2A histone family, member B1 [Gene]
- F8A2:coagulation factor VIII-associated 2 [Gene]
- F8A3:coagulation factor VIII-associated 3 [Gene]
- SPANXN1:SPANX family, member N1 [Gene - OMIM]
- SPANXN2:SPANX family, member N2 [Gene - OMIM]
- SPANXN5:SPANX family, member N5 [Gene - OMIM]
- MIR424:microRNA 424 [Gene - OMIM]
- CT45A6:cancer/testis antigen family 45, member A6 [Gene - OMIM]
- CT45A1:cancer/testis antigen family 45, member A1 [Gene - OMIM]
- CXorf40B:chromosome X open reading frame 40B [Gene]
- SSX4B:synovial sarcoma, X breakpoint 4B [Gene]
- JPX:JPX transcript, XIST activator (non-protein coding) [Gene - OMIM]
- MIR448:microRNA 448 [Gene - OMIM]
- MIR502:microRNA 502 [Gene - OMIM]
- MIR503:microRNA 503 [Gene - OMIM]
- MIR506:microRNA 506 [Gene - OMIM]
- MIR508:microRNA 508 [Gene - OMIM]
- MIR509-1:microRNA 509-1 [Gene - OMIM]
- MIR510:microRNA 510 [Gene - OMIM]
- ZNF674:zinc finger protein 674 [Gene - OMIM]
- CT47B1:cancer/testis antigen family 47, member B1 [Gene - OMIM]
- ZCCHC18:zinc finger, CCHC domain containing 18 [Gene]
- SMIM10:small integral membrane protein 10 [Gene]
- GAGE2B:G antigen 2B [Gene - OMIM]
- GAGE13:G antigen 13 [Gene - OMIM]
- GAGE12G:G antigen 12G [Gene - OMIM]
- CXorf30:chromosome X open reading frame 30 [Gene]
- MAGEB17:melanoma antigen family B, 17 [Gene - OMIM]
- PABPC1L2B:poly(A) binding protein, cytoplasmic 1-like 2B [Gene]
- XAGE1E:X antigen family, member 1E [Gene - OMIM - OMIM]
- XAGE1B:X antigen family, member 1B [Gene - OMIM - OMIM]
- CT47A7:cancer/testis antigen family 47, member A7 [Gene - OMIM]
- SNORA11:small nucleolar RNA, H/ACA box 11 [Gene - OMIM]
- SSX2B:synovial sarcoma, X breakpoint 2B [Gene]
- FAM156B:family with sequence similarity 156, member B [Gene]
- RHOXF2B:Rhox homeobox family, member 2B [Gene]
- CT47A10:cancer/testis antigen family 47, member A10 [Gene - OMIM]
- CT47A9:cancer/testis antigen family 47, member A9 [Gene - OMIM]
- CT47A8:cancer/testis antigen family 47, member A8 [Gene - OMIM]
- CT47A6:cancer/testis antigen family 47, member A6 [Gene - OMIM]
- CT47A5:cancer/testis antigen family 47, member A5 [Gene - OMIM]
- CT47A4:cancer/testis antigen family 47, member A4 [Gene - OMIM]
- CT47A3:cancer/testis antigen family 47, member A3 [Gene - OMIM]
- CT47A2:cancer/testis antigen family 47, member A2 [Gene - OMIM]
- CT47A1:cancer/testis antigen family 47, member A1 [Gene - OMIM]
- MAGED4:melanoma antigen family D, 4 [Gene - OMIM]
- MAGEA9B:melanoma antigen family A, 9B [Gene - OMIM]
- NXF2B:nuclear RNA export factor 2B [Gene]
- OPN1MW2:opsin 1 (cone pigments), medium-wave-sensitive 2 [Gene]
- DMRTC1B:DMRT-like family C1B [Gene]
- SPANXB1:SPANX family, member B1 [Gene - OMIM]
- SPANXA2:SPANX family, member A2 [Gene - OMIM]
- CT45A2:cancer/testis antigen family 45, member A2 [Gene - OMIM]
- SPACA5B:sperm acrosome associated 5B [Gene]
- GAGE12J:G antigen 12J [Gene - OMIM]
- GAGE2D:G antigen 2D [Gene - OMIM]
- GAGE12C:G antigen 12C [Gene - OMIM]
- GAGE12B:G antigen 12B [Gene]
- GAGE12E:G antigen 12E [Gene - OMIM]
- GAGE12H:G antigen 12H [Gene - OMIM]
- GAGE2A:G antigen 2A [Gene - OMIM]
- GAGE12F:G antigen 12F [Gene - OMIM]
- GAGE8:G antigen 8 [Gene - OMIM]
- FMR1-AS1:FMR1 antisense RNA 1 [Gene - OMIM]
- MIR509-3:microRNA 509-3 [Gene - OMIM]
- CXorf51A:chromosome X open reading frame 51A [Gene]
- HSFX2:heat shock transcription factor family, X linked 2 [Gene]
- SUPT20HL1:suppressor of Ty 20 homolog (S. cerevisiae)-like 1 [Gene]
- CXorf49:chromosome X open reading frame 49 [Gene]
- PRR32:proline rich 32 [Gene]
- ARMCX4:armadillo repeat containing, X-linked 4 [Gene]
- GAGE12D:G antigen 12D [Gene - OMIM]
- SMIM9:small integral membrane protein 9 [Gene]
- CXorf49B:chromosome X open reading frame 49B [Gene]
- CXorf51B:chromosome X open reading frame 51B [Gene]
- CMC4:C-x(9)-C motif containing 4 [Gene]
- FTX:FTX transcript, XIST regulator (non-protein coding) [Gene]
- TRPC5OS:TRPC5 opposite strand [Gene]
- MTRNR2L10:MT-RNR2-like 10 [Gene]
- HSFX1:heat shock transcription factor family, X linked 1 [Gene]
- CT47A12:cancer/testis antigen family 47, member A12 [Gene]
- ARMCX5-GPRASP2:ARMCX5-GPRASP2 readthrough [Gene]
- RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene]
- TCP11X2:t-complex 11 family, X-linked 2 [Gene]
- Variant type:
- copy number loss
- Cytogenetic location:
- Xp22.3-q28
- Preferred name:
- GRCh37/hg19 Xp22.3-q28(chrX:60679-155251871)x1
- HGVS:
- NC_000023.10:g.(?_60679)_(155251871_?)delThis HGVS expression did not pass validation
- Links:
- dbVar: nsv529317
- Observations:
- 3
Condition(s)
- Name:
- Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing
- Synonyms:
- unexplained developmental delay/intellectual disability
- Identifiers:
- MedGen: CN130018
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000078032 | International Standards For Cytogenomic Arrays Consortium (ISCA) | classified by single submitter | Pathogenic (Aug 12, 2011) | not provided | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | not provided | yes | 3 | 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
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 International Standards For Cytogenomic Arrays Consortium (ISCA), SCV000078032.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (2) |
2 | not provided | 1 | not provided | not provided | clinical testing | PubMed (2) |
3 | not provided | 1 | not provided | not provided | clinical testing | PubMed (2) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | not provided | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided | |
2 | not provided | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided | |
3 | not provided | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided |
Last Updated: Aug 24, 2014