- delete
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 5, 2017
- 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:
- RCV000749465.2
Allele description
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3
- Genes:
- ADO:2-aminoethanethiol dioxygenase [Gene - OMIM - HGNC]
- PAPSS2:3'-phosphoadenosine 5'-phosphosulfate synthase 2 [Gene - OMIM - HGNC]
- HACD1:3-hydroxyacyl-CoA dehydratase 1 [Gene - OMIM - HGNC]
- HOGA1:4-hydroxy-2-oxoglutarate aldolase 1 [Gene - OMIM - HGNC]
- NT5C2:5'-nucleotidase, cytosolic II [Gene - OMIM - HGNC]
- HTR7:5-hydroxytryptamine receptor 7 [Gene - OMIM - HGNC]
- PFKFB3:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 [Gene - OMIM - HGNC]
- ADAM12:ADAM metallopeptidase domain 12 [Gene - OMIM - HGNC]
- ADAM8:ADAM metallopeptidase domain 8 [Gene - OMIM - HGNC]
- ADAMTS14:ADAM metallopeptidase with thrombospondin type 1 motif 14 [Gene - OMIM - HGNC]
- ADIRF-AS1:ADIRF antisense RNA 1 [Gene - HGNC]
- ARL3:ADP ribosylation factor like GTPase 3 [Gene - OMIM - HGNC]
- ARL5B:ADP ribosylation factor like GTPase 5B [Gene - OMIM - HGNC]
- A1CF:APOBEC1 complementation factor [Gene - OMIM - HGNC]
- ARID5B:AT-rich interaction domain 5B [Gene - OMIM - HGNC]
- ABCC2:ATP binding cassette subfamily C member 2 [Gene - OMIM - HGNC]
- ATP5F1C:ATP synthase F1 subunit gamma [Gene - OMIM - HGNC]
- ATP5MK:ATP synthase membrane subunit k [Gene - OMIM - HGNC]
- ATAD1:ATPase family AAA domain containing 1 [Gene - OMIM - HGNC]
- AGAP10:ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 [Gene]
- AGAP11:ArfGAP with GTPase domain, ankyrin repeat and PH domain 11 [Gene - HGNC]
- AGAP4:ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 [Gene - HGNC]
- AGAP5:ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 [Gene - HGNC]
- AGAP6:ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 [Gene - HGNC]
- AGAP9:ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 [Gene - HGNC]
- BLNK:B cell linker [Gene - OMIM - HGNC]
- BTAF1:B-TFIID TATA-box binding protein associated factor 1 [Gene - OMIM - HGNC]
- BAG3:BAG cochaperone 3 [Gene - OMIM - HGNC]
- BBIP1:BBSome interacting protein 1 [Gene - OMIM - HGNC]
- BNIP3:BCL2 interacting protein 3 [Gene - OMIM - HGNC]
- BEND7:BEN domain containing 7 [Gene - HGNC]
- BORCS7:BLOC-1 related complex subunit 7 [Gene - OMIM - HGNC]
- BMI1:BMI1 proto-oncogene, polycomb ring finger [Gene - OMIM - HGNC]
- BAMBI:BMP and activin membrane bound inhibitor [Gene - OMIM - HGNC]
- BMS1:BMS1 ribosome biogenesis factor [Gene - OMIM - HGNC]
- BCCIP:BRCA2 and CDKN1A interacting protein [Gene - OMIM - HGNC]
- BTBD16:BTB domain containing 16 [Gene - HGNC]
- BUB3:BUB3 mitotic checkpoint protein [Gene - OMIM - HGNC]
- BICC1:BicC family RNA binding protein 1 [Gene - OMIM - HGNC]
- CXCL12:C-X-C motif chemokine ligand 12 [Gene - OMIM - HGNC]
- CTBP2:C-terminal binding protein 2 [Gene - OMIM - HGNC]
- CALML3-AS1:CALML3 antisense RNA 1 [Gene - HGNC]
- CISD1:CDGSH iron sulfur domain 1 [Gene - OMIM - HGNC]
- CACUL1:CDK2 associated cullin domain 1 [Gene - OMIM - HGNC]
- COMMD3:COMM domain containing 3 [Gene - OMIM - HGNC]
- COMMD3-BMI1:COMMD3-BMI1 readthrough [Gene - HGNC]
- CUZD1:CUB and zona pellucida like domains 1 [Gene - OMIM - HGNC]
- CUEDC2:CUE domain containing 2 [Gene - OMIM - HGNC]
- CELF2:CUGBP Elav-like family member 2 [Gene - OMIM - HGNC]
- CWF19L1:CWF19 like cell cycle control factor 1 [Gene - OMIM - HGNC]
- DHX32:DEAH-box helicase 32 (putative) [Gene - OMIM - HGNC]
- DENND10:DENN domain containing 10 [Gene - HGNC]
- DEPP1:DEPP autophagy regulator 1 [Gene - OMIM - HGNC]
- DDX21:DExD-box helicase 21 [Gene - OMIM - HGNC]
- DDX50:DExD-box helicase 50 [Gene - OMIM - HGNC]
- DCLRE1A:DNA cross-link repair 1A [Gene - OMIM - HGNC]
- DCLRE1C:DNA cross-link repair 1C [Gene - OMIM - HGNC]
- DDIT4:DNA damage inducible transcript 4 [Gene - OMIM - HGNC]
- DNTT:DNA nucleotidylexotransferase [Gene - OMIM - HGNC]
- POLL:DNA polymerase lambda [Gene - OMIM - HGNC]
- DNA2:DNA replication helicase/nuclease 2 [Gene - OMIM - HGNC]
- DYDC1:DPY30 domain containing 1 [Gene - OMIM - HGNC]
- DYDC2:DPY30 domain containing 2 [Gene - HGNC]
- DNAJB12:DnaJ heat shock protein family (Hsp40) member B12 [Gene - OMIM - HGNC]
- DNAJC12:DnaJ heat shock protein family (Hsp40) member C12 [Gene - OMIM - HGNC]
- DNAJC1:DnaJ heat shock protein family (Hsp40) member C1 [Gene - OMIM - HGNC]
- DNAJC9:DnaJ heat shock protein family (Hsp40) member C9 [Gene - OMIM - HGNC]
- EBF3:EBF transcription factor 3 [Gene - OMIM - HGNC]
- EEF1AKMT2:EEF1A lysine methyltransferase 2 [Gene - OMIM - HGNC]
- ELOVL3:ELOVL fatty acid elongase 3 [Gene - OMIM - HGNC]
- EMX2OS:EMX2 opposite strand/antisense RNA [Gene - OMIM - HGNC]
- ERLIN1:ER lipid raft associated 1 [Gene - OMIM - HGNC]
- ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
- FBH1:F-box DNA helicase 1 [Gene - OMIM - HGNC]
- FBXW4:F-box and WD repeat domain containing 4 [Gene - OMIM - HGNC]
- FBXL15:F-box and leucine rich repeat protein 15 [Gene - OMIM - HGNC]
- FAS-AS1:FAS antisense RNA 1 [Gene - HGNC]
- FRMPD2:FERM and PDZ domain containing 2 [Gene - OMIM - HGNC]
- FRMD4A:FERM domain containing 4A [Gene - OMIM - HGNC]
- FHIP2A:FHF complex subunit HOOK interacting protein 2A [Gene - OMIM - HGNC]
- FRA10AC1:FRA10A associated CGG repeat 1 [Gene - OMIM - HGNC]
- FRAT1:FRAT regulator of WNT signaling pathway 1 [Gene - OMIM - HGNC]
- FRAT2:FRAT regulator of WNT signaling pathway 2 [Gene - OMIM - HGNC]
- FRG2B:FSHD region gene 2 family member B [Gene - HGNC]
- FXYD4:FXYD domain containing ion transport regulator 4 [Gene - OMIM - HGNC]
- FAS:Fas cell surface death receptor [Gene - OMIM - HGNC]
- GPRIN2:G protein regulated inducer of neurite outgrowth 2 [Gene - OMIM - HGNC]
- GPR15LG:G protein-coupled receptor 15 ligand [Gene - OMIM - HGNC]
- GPR158:G protein-coupled receptor 158 [Gene - OMIM - HGNC]
- GPR26:G protein-coupled receptor 26 [Gene - OMIM - HGNC]
- GRK5:G protein-coupled receptor kinase 5 [Gene - OMIM - HGNC]
- GATA3:GATA binding protein 3 [Gene - OMIM - HGNC]
- GFRA1:GDNF family receptor alpha 1 [Gene - OMIM - HGNC]
- GDI2:GDP dissociation inhibitor 2 [Gene - OMIM - HGNC]
- GTPBP4:GTP binding protein 4 [Gene - OMIM - HGNC]
- HMX2:H6 family homeobox 2 [Gene - OMIM - HGNC]
- HMX3:H6 family homeobox 3 [Gene - OMIM - HGNC]
- HERC4:HECT and RLD domain containing E3 ubiquitin protein ligase 4 [Gene - OMIM - HGNC]
- HECTD2:HECT domain E3 ubiquitin protein ligase 2 [Gene - HGNC]
- HPS1:HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 [Gene - OMIM - HGNC]
- HPS6:HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 [Gene - OMIM - HGNC]
- HTRA1:HtrA serine peptidase 1 [Gene - OMIM - HGNC]
- IKZF5:IKAROS family zinc finger 5 [Gene - OMIM - HGNC]
- JAKMIP3:Janus kinase and microtubule interacting protein 3 [Gene - OMIM - HGNC]
- KIAA1217:KIAA1217 [Gene - OMIM - HGNC]
- KLF6:KLF transcription factor 6 [Gene - OMIM - HGNC]
- KAZALD1:Kazal type serine peptidase inhibitor domain 1 [Gene - OMIM - HGNC]
- KIN:Kin17 DNA and RNA binding protein [Gene - OMIM - HGNC]
- LDB1:LIM domain binding 1 [Gene - OMIM - HGNC]
- LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]
- LARP4B:La ribonucleoprotein 4B [Gene - OMIM - HGNC]
- MPP7:MAGUK p55 scaffold protein 7 [Gene - OMIM - HGNC]
- MARVELD1:MARVEL domain containing 1 [Gene - OMIM - HGNC]
- MXI1:MAX interactor 1, dimerization protein [Gene - OMIM - HGNC]
- MINDY3:MINDY lysine 48 deubiquitinase 3 [Gene - OMIM - HGNC]
- MIR1915HG:MIR1915 host gene [Gene - HGNC]
- MLLT10:MLLT10 histone lysine methyltransferase DOT1L cofactor [Gene - OMIM - HGNC]
- MMS19:MMS19 homolog, cytosolic iron-sulfur assembly component [Gene - OMIM - HGNC]
- MORN4:MORN repeat containing 4 [Gene - OMIM - HGNC]
- MSS51:MSS51 mitochondrial translational activator [Gene - OMIM - HGNC]
- MTRNR2L5:MT-RNR2 like 5 [Gene - HGNC]
- MTRNR2L7:MT-RNR2 like 7 [Gene - HGNC]
- ASAH2:N-acylsphingosine amidohydrolase 2 [Gene - OMIM - HGNC]
- ASAH2B:N-acylsphingosine amidohydrolase 2B [Gene - OMIM - HGNC]
- NDST2:N-deacetylase and N-sulfotransferase 2 [Gene - OMIM - HGNC]
- NMT2:N-myristoyltransferase 2 [Gene - OMIM - HGNC]
- NDUFB8:NADH:ubiquinone oxidoreductase subunit B8 [Gene - OMIM - HGNC]
- NHLRC2:NHL repeat containing 2 [Gene - OMIM - HGNC]
- NKX1-2:NK1 homeobox 2 [Gene - HGNC]
- NKX2-3:NK2 homeobox 3 [Gene - OMIM - HGNC]
- NKX6-2:NK6 homeobox 2 [Gene - OMIM - HGNC]
- NOC3L:NOC3 like DNA replication regulator [Gene - OMIM - HGNC]
- NSUN6:NOP2/Sun RNA methyltransferase 6 [Gene - OMIM - HGNC]
- NSMCE4A:NSE4 homolog A, SMC5-SMC6 complex component [Gene - OMIM - HGNC]
- NUTM2A:NUT family member 2A [Gene - HGNC]
- NUTM2B:NUT family member 2B [Gene - HGNC]
- MGMT:O-6-methylguanine-DNA methyltransferase [Gene - OMIM - HGNC]
- OGA:O-GlcNAcase [Gene - OMIM - HGNC]
- OTUD1:OTU deubiquitinase 1 [Gene - OMIM - HGNC]
- PDLIM1:PDZ and LIM domain 1 [Gene - OMIM - HGNC]
- PDZD7:PDZ domain containing 7 [Gene - OMIM - HGNC]
- PDZD8:PDZ domain containing 8 [Gene - OMIM - HGNC]
- PPRC1:PPARG related coactivator 1 [Gene - OMIM - HGNC]
- PWWP2B:PWWP domain containing 2B [Gene - HGNC]
- R3HCC1L:R3H domain and coiled-coil containing 1 like [Gene - HGNC]
- RAB11FIP2:RAB11 family interacting protein 2 [Gene - OMIM - HGNC]
- RAB18:RAB18, member RAS oncogene family [Gene - OMIM - HGNC]
- RBM17:RNA binding motif protein 17 [Gene - OMIM - HGNC]
- RBM20:RNA binding motif protein 20 [Gene - OMIM - HGNC]
- POLR3A:RNA polymerase III subunit A [Gene - OMIM - HGNC]
- RPP38-DT:RPP38 divergent transcript [Gene - HGNC]
- RUFY2:RUN and FYVE domain containing 2 [Gene - OMIM - HGNC]
- RASSF4:Ras association domain family member 4 [Gene - OMIM - HGNC]
- RSU1:Ras suppressor protein 1 [Gene - OMIM - HGNC]
- RASGEF1A:RasGEF domain family member 1A [Gene - OMIM - HGNC]
- ARHGAP12:Rho GTPase activating protein 12 [Gene - OMIM - HGNC]
- ARHGAP19:Rho GTPase activating protein 19 [Gene - OMIM - HGNC]
- ARHGAP21:Rho GTPase activating protein 21 [Gene - OMIM - HGNC]
- ARHGAP22:Rho GTPase activating protein 22 [Gene - OMIM - HGNC]
- RHOBTB1:Rho related BTB domain containing 1 [Gene - OMIM - HGNC]
- SEC23IP:SEC23 interacting protein [Gene - OMIM - HGNC]
- SEC24C:SEC24 homolog C, COPII coat complex component [Gene - OMIM - HGNC]
- SEC31B:SEC31 homolog B, COPII coat complex component [Gene - OMIM - HGNC]
- SEC61A2:SEC61 translocon subunit alpha 2 [Gene - OMIM - HGNC]
- SH2D4B:SH2 domain containing 4B [Gene - HGNC]
- SH3PXD2A:SH3 and PX domains 2A [Gene - OMIM - HGNC]
- SHOC2:SHOC2 leucine rich repeat scaffold protein [Gene - OMIM - HGNC]
- SKIDA1:SKI/DACH domain containing 1 [Gene - HGNC]
- SLF2:SMC5-SMC6 complex localization factor 2 [Gene - OMIM - HGNC]
- SPOCK2:SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2 [Gene - OMIM - HGNC]
- ST8SIA6:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 [Gene - OMIM - HGNC]
- STAMBPL1:STAM binding protein like 1 [Gene - OMIM - HGNC]
- SLK:STE20 like kinase [Gene - OMIM - HGNC]
- STN1:STN1 subunit of CST complex [Gene - OMIM - HGNC]
- SUFU:SUFU negative regulator of hedgehog signaling [Gene - OMIM - HGNC]
- SUV39H2:SUV39H2 histone lysine methyltransferase [Gene - OMIM - HGNC]
- SFR1:SWI5 dependent homologous recombination repair protein 1 [Gene - OMIM - HGNC]
- SFMBT2:Scm like with four mbt domains 2 [Gene - OMIM - HGNC]
- SUPV3L1:Suv3 like RNA helicase [Gene - OMIM - HGNC]
- TLX1:T cell leukemia homeobox 1 [Gene - OMIM - HGNC]
- TAF3:TATA-box binding protein associated factor 3 [Gene - OMIM - HGNC]
- TAF5:TATA-box binding protein associated factor 5 [Gene - OMIM - HGNC]
- TBC1D12:TBC1 domain family member 12 [Gene - OMIM - HGNC]
- TCERG1L-AS1:TCERG1L antisense RNA 1 [Gene - HGNC]
- TIAL1:TIA1 cytotoxic granule associated RNA binding protein like 1 [Gene - OMIM - HGNC]
- TLX1NB:TLX1 neighbor [Gene - OMIM - HGNC]
- TRUB1:TruB pseudouridine synthase family member 1 [Gene - OMIM - HGNC]
- UPF2:UPF2 regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
- USP6NL:USP6 N-terminal like [Gene - OMIM - HGNC]
- VSTM4:V-set and transmembrane domain containing 4 [Gene - HGNC]
- VSIR:V-set immunoregulatory receptor [Gene - OMIM - HGNC]
- VENTX:VENT homeobox [Gene - OMIM - HGNC]
- VPS26A:VPS26 retromer complex component A [Gene - OMIM - HGNC]
- WAPL:WAPL cohesin release factor [Gene - OMIM - HGNC]
- WASHC2A:WASH complex subunit 2A [Gene - HGNC]
- WASHC2C:WASH complex subunit 2C [Gene - OMIM - HGNC]
- WDR11:WD repeat domain 11 [Gene - OMIM - HGNC]
- WDR37:WD repeat domain 37 [Gene - OMIM - HGNC]
- WDFY4:WDFY family member 4 [Gene - OMIM - HGNC]
- WBP1L:WW domain binding protein 1 like [Gene - OMIM - HGNC]
- WAC:WW domain containing adaptor with coiled-coil [Gene - OMIM - HGNC]
- WNT8B:Wnt family member 8B [Gene - OMIM - HGNC]
- XPNPEP1:X-prolyl aminopeptidase 1 [Gene - OMIM - HGNC]
- YME1L1:YME1 like 1 ATPase [Gene - OMIM - HGNC]
- ZNF22-AS1:ZNF22 antisense RNA 1 [Gene - HGNC]
- ZWINT:ZW10 interacting kinetochore protein [Gene - OMIM - HGNC]
- ABI1:abl interactor 1 [Gene - OMIM - HGNC]
- ABRAXAS2:abraxas 2, BRISC complex subunit [Gene - OMIM - HGNC]
- ACTA2:actin alpha 2, smooth muscle [Gene - OMIM - HGNC]
- ABLIM1:actin binding LIM protein 1 [Gene - OMIM - HGNC]
- AFAP1L2:actin filament associated protein 1 like 2 [Gene - OMIM - HGNC]
- ACTR1A:actin related protein 1A [Gene - OMIM - HGNC]
- ASCC1:activating signal cointegrator 1 complex subunit 1 [Gene - OMIM - HGNC]
- ACBD5:acyl-CoA binding domain containing 5 [Gene - OMIM - HGNC]
- ACBD7:acyl-CoA binding domain containing 7 [Gene - HGNC]
- ACADSB:acyl-CoA dehydrogenase short/branched chain [Gene - OMIM - HGNC]
- ACSL5:acyl-CoA synthetase long chain family member 5 [Gene - OMIM - HGNC]
- ACSM6:acyl-CoA synthetase medium chain family member 6 [Gene - HGNC]
- AP3M1:adaptor related protein complex 3 subunit mu 1 [Gene - OMIM - HGNC]
- ADD3:adducin 3 [Gene - OMIM - HGNC]
- ADARB2:adenosine deaminase RNA specific B2 (inactive) [Gene - OMIM - HGNC]
- ADK:adenosine kinase [Gene - OMIM - HGNC]
- ADGRA1:adhesion G protein-coupled receptor A1 [Gene - OMIM - HGNC]
- ADIRF:adipogenesis regulatory factor [Gene - HGNC]
- ADRA2A:adrenoceptor alpha 2A [Gene - OMIM - HGNC]
- ADRB1:adrenoceptor beta 1 [Gene - OMIM - HGNC]
- ARMS2:age-related maculopathy susceptibility 2 [Gene - OMIM - HGNC]
- ALDH18A1:aldehyde dehydrogenase 18 family member A1 [Gene - OMIM - HGNC]
- AKR1C1:aldo-keto reductase family 1 member C1 [Gene - OMIM - HGNC]
- AKR1C2:aldo-keto reductase family 1 member C2 [Gene - OMIM - HGNC]
- AKR1C3:aldo-keto reductase family 1 member C3 [Gene - OMIM - HGNC]
- AKR1C4:aldo-keto reductase family 1 member C4 [Gene - OMIM - HGNC]
- AKR1E2:aldo-keto reductase family 1 member E2 [Gene - OMIM - HGNC]
- APBB1IP:amyloid beta precursor protein binding family B member 1 interacting protein [Gene - OMIM - HGNC]
- ANAPC16:anaphase promoting complex subunit 16 [Gene - OMIM - HGNC]
- ANK3:ankyrin 3 [Gene - OMIM - HGNC]
- ASB13:ankyrin repeat and SOCS box containing 13 [Gene - OMIM - HGNC]
- ANKRD16:ankyrin repeat domain 16 [Gene - OMIM - HGNC]
- ANKRD1:ankyrin repeat domain 1 [Gene - OMIM - HGNC]
- ANKRD22:ankyrin repeat domain 22 [Gene - HGNC]
- ANKRD2:ankyrin repeat domain 2 [Gene - OMIM - HGNC]
- ANKRD30A:ankyrin repeat domain 30A [Gene - OMIM - HGNC]
- ANKRD26:ankyrin repeat domain containing 26 [Gene - OMIM - HGNC]
- ANXA11:annexin A11 [Gene - OMIM - HGNC]
- ANXA7:annexin A7 [Gene - OMIM - HGNC]
- ANXA8L1:annexin A8 like 1 [Gene - HGNC]
- ANXA8:annexin A8 [Gene - OMIM - HGNC]
- AIFM2:apoptosis inducing factor mitochondria associated 2 [Gene - OMIM - HGNC]
- ALOX5:arachidonate 5-lipoxygenase [Gene - OMIM - HGNC]
- AVPI1:arginine vasopressin induced 1 [Gene - OMIM - HGNC]
- ATE1:arginyltransferase 1 [Gene - OMIM - HGNC]
- ARMH3:armadillo like helical domain containing 3 [Gene - HGNC]
- ARMC3:armadillo repeat containing 3 [Gene - OMIM - HGNC]
- AS3MT:arsenite methyltransferase [Gene - OMIM - HGNC]
- ATOH7:atonal bHLH transcription factor 7 [Gene - OMIM - HGNC]
- ATRNL1:attractin like 1 [Gene - OMIM - HGNC]
- BTRC:beta-transducin repeat containing E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
- BLOC1S2:biogenesis of lysosomal organelles complex 1 subunit 2 [Gene - OMIM - HGNC]
- BMPR1A:bone morphogenetic protein receptor type 1A [Gene - OMIM - HGNC]
- CREM:cAMP responsive element modulator [Gene - OMIM - HGNC]
- CDH23:cadherin related 23 [Gene - OMIM - HGNC]
- CDHR1:cadherin related family member 1 [Gene - OMIM - HGNC]
- CALHM1:calcium homeostasis modulator 1 [Gene - OMIM - HGNC]
- CALHM3:calcium homeostasis modulator 3 [Gene - OMIM - HGNC]
- CALHM2:calcium homeostasis modulator family member 2 [Gene - OMIM - HGNC]
- CACNB2:calcium voltage-gated channel auxiliary subunit beta 2 [Gene - OMIM - HGNC]
- CAMK1D:calcium/calmodulin dependent protein kinase ID [Gene - OMIM - HGNC]
- CAMK2G:calcium/calmodulin dependent protein kinase II gamma [Gene - OMIM - HGNC]
- CALY:calcyon neuron specific vesicular protein [Gene - OMIM - HGNC]
- CALML3:calmodulin like 3 [Gene - OMIM - HGNC]
- CALML5:calmodulin like 5 [Gene - OMIM - HGNC]
- CASC2:cancer susceptibility 2 [Gene - OMIM - HGNC]
- CHST15:carbohydrate sulfotransferase 15 [Gene - OMIM - HGNC]
- CHST3:carbohydrate sulfotransferase 3 [Gene - OMIM - HGNC]
- CPN1:carboxypeptidase N subunit 1 [Gene - OMIM - HGNC]
- CPXM2:carboxypeptidase X, M14 family member 2 [Gene - OMIM - HGNC]
- CRTAC1:cartilage acidic protein 1 [Gene - OMIM - HGNC]
- CASP7:caspase 7 [Gene - OMIM - HGNC]
- COMTD1:catechol-O-methyltransferase domain containing 1 [Gene - HGNC]
- CTNNA3:catenin alpha 3 [Gene - OMIM - HGNC]
- CDC123:cell division cycle 123 [Gene - OMIM - HGNC]
- CCAR1:cell division cycle and apoptosis regulator 1 [Gene - OMIM - HGNC]
- CEP55:centrosomal protein 55 [Gene - OMIM - HGNC]
- CDNF:cerebral dopamine neurotrophic factor [Gene - OMIM - HGNC]
- CH25H:cholesterol 25-hydroxylase [Gene - OMIM - HGNC]
- CHAT:choline O-acetyltransferase [Gene - OMIM - HGNC]
- CSGALNACT2:chondroitin sulfate N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]
- C10orf105:chromosome 10 open reading frame 105 [Gene - HGNC]
- C10orf113:chromosome 10 open reading frame 113 [Gene - HGNC]
- C10orf120:chromosome 10 open reading frame 120 [Gene - HGNC]
- C10orf126:chromosome 10 open reading frame 126 [Gene - HGNC]
- C10orf12:chromosome 10 open reading frame 12 [Gene - HGNC]
- C10orf131:chromosome 10 open reading frame 131 [Gene - HGNC]
- C10orf53:chromosome 10 open reading frame 53 [Gene - HGNC]
- C10orf62:chromosome 10 open reading frame 62 [Gene - HGNC]
- C10orf67:chromosome 10 open reading frame 67 [Gene - HGNC]
- C10orf71:chromosome 10 open reading frame 71 [Gene - HGNC]
- C10orf82:chromosome 10 open reading frame 82 [Gene - HGNC]
- C10orf88:chromosome 10 open reading frame 88 [Gene - HGNC]
- C10orf90:chromosome 10 open reading frame 90 [Gene - OMIM - HGNC]
- C10orf95:chromosome 10 open reading frame 95 [Gene - HGNC]
- C10orf55:chromosome 10 putative open reading frame 55 [Gene - HGNC]
- CFAP43:cilia and flagella associated protein 43 [Gene - OMIM - HGNC]
- CFAP46:cilia and flagella associated protein 46 [Gene - OMIM - HGNC]
- CFAP58:cilia and flagella associated protein 58 [Gene - OMIM - HGNC]
- CFAP70:cilia and flagella associated protein 70 [Gene - OMIM - HGNC]
- CABCOCO1:ciliary associated calcium binding coiled-coil 1 [Gene - HGNC]
- CLRN3:clarin 3 [Gene - OMIM - HGNC]
- CSTF2T:cleavage stimulation factor subunit 2 tau variant [Gene - OMIM - HGNC]
- CC2D2B:coiled-coil and C2 domain containing 2B [Gene - HGNC]
- CCDC172:coiled-coil domain containing 172 [Gene - HGNC]
- CCDC186:coiled-coil domain containing 186 [Gene - OMIM - HGNC]
- CCDC3:coiled-coil domain containing 3 [Gene - HGNC]
- CCDC6:coiled-coil domain containing 6 [Gene - OMIM - HGNC]
- CCDC7:coiled-coil domain containing 7 [Gene - OMIM - HGNC]
- CCSER2:coiled-coil serine rich protein 2 [Gene - OMIM - HGNC]
- CHCHD1:coiled-coil-helix-coiled-coil-helix domain containing 1 [Gene - OMIM - HGNC]
- COL13A1:collagen type XIII alpha 1 chain [Gene - OMIM - HGNC]
- COL17A1:collagen type XVII alpha 1 chain [Gene - OMIM - HGNC]
- C1QL3:complement C1q like 3 [Gene - OMIM - HGNC]
- CHUK:component of inhibitor of nuclear factor kappa B kinase complex [Gene - OMIM - HGNC]
- CUBN:cubilin [Gene - OMIM - HGNC]
- CUL2:cullin 2 [Gene - OMIM - HGNC]
- CUTC:cutC copper transporter [Gene - OMIM - HGNC]
- CCNJ:cyclin J [Gene - HGNC]
- CCNY:cyclin Y [Gene - OMIM - HGNC]
- CNNM1:cyclin and CBS domain divalent metal cation transport mediator 1 [Gene - OMIM - HGNC]
- CNNM2:cyclin and CBS domain divalent metal cation transport mediator 2 [Gene - OMIM - HGNC]
- CDK1:cyclin dependent kinase 1 [Gene - OMIM - HGNC]
- CYP17A1:cytochrome P450 family 17 subfamily A member 1 [Gene - OMIM - HGNC]
- CYP2C18:cytochrome P450 family 2 subfamily C member 18 [Gene - OMIM - HGNC]
- CYP2C19:cytochrome P450 family 2 subfamily C member 19 [Gene - OMIM - HGNC]
- CYP2C8:cytochrome P450 family 2 subfamily C member 8 [Gene - OMIM - HGNC]
- CYP2C9:cytochrome P450 family 2 subfamily C member 9 [Gene - OMIM - HGNC]
- CYP2E1:cytochrome P450 family 2 subfamily E member 1 [Gene - OMIM - HGNC]
- CYP26A1:cytochrome P450 family 26 subfamily A member 1 [Gene - OMIM - HGNC]
- CYP26C1:cytochrome P450 family 26 subfamily C member 1 [Gene - OMIM - HGNC]
- COX15:cytochrome c oxidase assembly homolog COX15 [Gene - OMIM - HGNC]
- CPEB3:cytoplasmic polyadenylation element binding protein 3 [Gene - OMIM - HGNC]
- PDSS1:decaprenyl diphosphate synthase subunit 1 [Gene - OMIM - HGNC]
- DOCK1:dedicator of cytokinesis 1 [Gene - OMIM - HGNC]
- DHTKD1:dehydrogenase E1 and transketolase domain containing 1 [Gene - OMIM - HGNC]
- DMBT1:deleted in malignant brain tumors 1 [Gene - OMIM - HGNC]
- DPCD:deleted in primary ciliary dyskinesia homolog (mouse) [Gene - OMIM - HGNC]
- DKK1:dickkopf WNT signaling pathway inhibitor 1 [Gene - OMIM - HGNC]
- DPYSL4:dihydropyrimidinase like 4 [Gene - OMIM - HGNC]
- DIP2C:disco interacting protein 2 homolog C [Gene - OMIM - HGNC]
- DLG5:discs large MAGUK scaffold protein 5 [Gene - OMIM - HGNC]
- DRGX:dorsal root ganglia homeobox [Gene - OMIM - HGNC]
- DUSP13B:dual specificity phosphatase 13B [Gene - OMIM - HGNC]
- DUSP29:dual specificity phosphatase 29 [Gene - OMIM - HGNC]
- DUSP5:dual specificity phosphatase 5 [Gene - OMIM - HGNC]
- DNMBP:dynamin binding protein [Gene - OMIM - HGNC]
- EGR2:early growth response 2 [Gene - OMIM - HGNC]
- ECD:ecdysoneless cell cycle regulator [Gene - OMIM - HGNC]
- ENTPD1:ectonucleoside triphosphate diphosphohydrolase 1 [Gene - OMIM - HGNC]
- ENTPD7:ectonucleoside triphosphate diphosphohydrolase 7 [Gene - OMIM - HGNC]
- EMX2:empty spiracles homeobox 2 [Gene - OMIM - HGNC]
- EBLN1:endogenous Bornavirus like nucleoprotein 1 [Gene - OMIM - HGNC]
- EPC1:enhancer of polycomb homolog 1 [Gene - OMIM - HGNC]
- ENKUR:enkurin, TRPC channel interacting protein [Gene - OMIM - HGNC]
- ENO4:enolase 4 [Gene - OMIM - HGNC]
- ECHDC3:enoyl-CoA hydratase domain containing 3 [Gene - HGNC]
- ECHS1:enoyl-CoA hydratase, short chain 1 [Gene - OMIM - HGNC]
- EDRF1:erythroid differentiation regulatory factor 1 [Gene - HGNC]
- EIF3A:eukaryotic translation initiation factor 3 subunit A [Gene - OMIM - HGNC]
- EIF4EBP2:eukaryotic translation initiation factor 4E binding protein 2 [Gene - OMIM - HGNC]
- EIF5AL1:eukaryotic translation initiation factor 5A like 1 [Gene - HGNC]
- EXOC6:exocyst complex component 6 [Gene - OMIM - HGNC]
- EXOSC1:exosome component 1 [Gene - OMIM - HGNC]
- FAM107B:family with sequence similarity 107 member B [Gene - HGNC]
- FAM13C:family with sequence similarity 13 member C [Gene - HGNC]
- FAM149B1:family with sequence similarity 149 member B1 [Gene - OMIM - HGNC]
- FAM170B:family with sequence similarity 170 member B [Gene - HGNC]
- FAM171A1:family with sequence similarity 171 member A1 [Gene - HGNC]
- FAM204A:family with sequence similarity 204 member A [Gene - HGNC]
- FAM24A:family with sequence similarity 24 member A [Gene - HGNC]
- FAM24B:family with sequence similarity 24 member B [Gene - HGNC]
- FAM241B:family with sequence similarity 241 member B [Gene - HGNC]
- FAM25A:family with sequence similarity 25 member A [Gene - HGNC]
- FAM25C:family with sequence similarity 25 member C [Gene - HGNC]
- FAM25E:family with sequence similarity 25 member E [Gene - HGNC]
- FAM25G:family with sequence similarity 25 member G [Gene - HGNC]
- FAM53B:family with sequence similarity 53 member B [Gene - OMIM - HGNC]
- FGF8:fibroblast growth factor 8 [Gene - OMIM - HGNC]
- FGFBP3:fibroblast growth factor binding protein 3 [Gene - HGNC]
- FGFR2:fibroblast growth factor receptor 2 [Gene - OMIM - HGNC]
- FANK1:fibronectin type III and ankyrin repeat domains 1 [Gene - OMIM - HGNC]
- FOXI2:forkhead box I2 [Gene - OMIM - HGNC]
- FFAR4:free fatty acid receptor 4 [Gene - OMIM - HGNC]
- FZD8:frizzled class receptor 8 [Gene - OMIM - HGNC]
- FUOM:fucose mutarotase [Gene - OMIM - HGNC]
- FUT11:fucosyltransferase 11 [Gene - OMIM - HGNC]
- GJD4:gap junction protein delta 4 [Gene - OMIM - HGNC]
- GAD2:glutamate decarboxylase 2 [Gene - OMIM - HGNC]
- GLUD1:glutamate dehydrogenase 1 [Gene - OMIM - HGNC]
- GRID1:glutamate ionotropic receptor delta type subunit 1 [Gene - OMIM - HGNC]
- GOT1:glutamic-oxaloacetic transaminase 1 [Gene - OMIM - HGNC]
- GLRX3:glutaredoxin 3 [Gene - OMIM - HGNC]
- GSTO1:glutathione S-transferase omega 1 [Gene - OMIM - HGNC]
- GSTO2:glutathione S-transferase omega 2 [Gene - OMIM - HGNC]
- GPAM:glycerol-3-phosphate acyltransferase, mitochondrial [Gene - OMIM - HGNC]
- GBF1:golgi brefeldin A resistant guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
- GOLGA7B:golgin A7 family member B [Gene - OMIM - HGNC]
- GDF10:growth differentiation factor 10 [Gene - OMIM - HGNC]
- GDF2:growth differentiation factor 2 [Gene - OMIM - HGNC]
- GHITM:growth hormone inducible transmembrane protein [Gene - OMIM - HGNC]
- HSPA12A:heat shock protein family A (Hsp70) member 12A [Gene - OMIM - HGNC]
- HSPA14:heat shock protein family A (Hsp70) member 14 [Gene - OMIM - HGNC]
- HELLS:helicase, lymphoid specific [Gene - OMIM - HGNC]
- HHEX:hematopoietically expressed homeobox [Gene - OMIM - HGNC]
- HPSE2:heparanase 2 (inactive) [Gene - OMIM - HGNC]
- HNRNPF:heterogeneous nuclear ribonucleoprotein F [Gene - OMIM - HGNC]
- HNRNPH3:heterogeneous nuclear ribonucleoprotein H3 [Gene - OMIM - HGNC]
- HK1:hexokinase 1 [Gene - OMIM - HGNC]
- HKDC1:hexokinase domain containing 1 [Gene - OMIM - HGNC]
- HABP2:hyaluronan binding protein 2 [Gene - OMIM - HGNC]
- HIF1AN:hypoxia inducible factor 1 subunit alpha inhibitor [Gene - OMIM - HGNC]
- INSYN2A:inhibitory synaptic factor 2A [Gene - OMIM - HGNC]
- PPA1:inorganic pyrophosphatase 1 [Gene - OMIM - HGNC]
- ITPRIP:inositol 1,4,5-trisphosphate receptor interacting protein [Gene - OMIM - HGNC]
- IPMK:inositol polyphosphate multikinase [Gene - OMIM - HGNC]
- INPP5A:inositol polyphosphate-5-phosphatase A [Gene - OMIM - HGNC]
- INPP5F:inositol polyphosphate-5-phosphatase F [Gene - OMIM - HGNC]
- IDE:insulin degrading enzyme [Gene - OMIM - HGNC]
- ITGA8:integrin subunit alpha 8 [Gene - OMIM - HGNC]
- ITGB1:integrin subunit beta 1 [Gene - OMIM - HGNC]
- ITIH2:inter-alpha-trypsin inhibitor heavy chain 2 [Gene - OMIM - HGNC]
- ITIH5:inter-alpha-trypsin inhibitor heavy chain 5 [Gene - OMIM - HGNC]
- IFIT1:interferon induced protein with tetratricopeptide repeats 1 [Gene - OMIM - HGNC]
- IFIT1B:interferon induced protein with tetratricopeptide repeats 1B [Gene - HGNC]
- IFIT2:interferon induced protein with tetratricopeptide repeats 2 [Gene - OMIM - HGNC]
- IFIT3:interferon induced protein with tetratricopeptide repeats 3 [Gene - OMIM - HGNC]
- IFIT5:interferon induced protein with tetratricopeptide repeats 5 [Gene - OMIM - HGNC]
- IL15RA:interleukin 15 receptor subunit alpha [Gene - OMIM - HGNC]
- IL2RA:interleukin 2 receptor subunit alpha [Gene - OMIM - HGNC]
- INA:internexin neuronal intermediate filament protein alpha [Gene - OMIM - HGNC]
- IDI1:isopentenyl-diphosphate delta isomerase 1 [Gene - OMIM - HGNC]
- IDI2:isopentenyl-diphosphate delta isomerase 2 [Gene - OMIM - HGNC]
- JMJD1C:jumonji domain containing 1C [Gene - OMIM - HGNC]
- JCAD:junctional cadherin 5 associated [Gene - OMIM - HGNC]
- KLLN:killin, p53 regulated DNA replication inhibitor [Gene - OMIM - HGNC]
- KNDC1:kinase non-catalytic C-lobe domain containing 1 [Gene - OMIM - HGNC]
- KIFBP:kinesin family binding protein [Gene - OMIM - HGNC]
- KIF11:kinesin family member 11 [Gene - OMIM - HGNC]
- KIF20B:kinesin family member 20B [Gene - OMIM - HGNC]
- KIF5B:kinesin family member 5B [Gene - OMIM - HGNC]
- LBX1:ladybird homeobox 1 [Gene - OMIM - HGNC]
- LGI1:leucine rich glioma inactivated 1 [Gene - OMIM - HGNC]
- LRMDA:leucine rich melanocyte differentiation associated [Gene - OMIM - HGNC]
- LRRC18:leucine rich repeat containing 18 [Gene - OMIM - HGNC]
- LRRC20:leucine rich repeat containing 20 [Gene - HGNC]
- LRRC27:leucine rich repeat containing 27 [Gene - HGNC]
- LRRTM3:leucine rich repeat transmembrane neuronal 3 [Gene - OMIM - HGNC]
- LRIT1:leucine rich repeat, Ig-like and transmembrane domains 1 [Gene - OMIM - HGNC]
- LRIT2:leucine rich repeat, Ig-like and transmembrane domains 2 [Gene - HGNC]
- LZTS2:leucine zipper tumor suppressor 2 [Gene - OMIM - HGNC]
- LCOR:ligand dependent nuclear receptor corepressor [Gene - OMIM - HGNC]
- LIPA:lipase A, lysosomal acid type [Gene - OMIM - HGNC]
- LIPF:lipase F, gastric type [Gene - OMIM - HGNC]
- LIPJ:lipase family member J [Gene - OMIM - HGNC]
- LIPK:lipase family member K [Gene - OMIM - HGNC]
- LIPM:lipase family member M [Gene - OMIM - HGNC]
- LIPN:lipase family member N [Gene - OMIM - HGNC]
- LINC01166:long intergenic non-protein coding RNA 1166 [Gene - HGNC]
- LINC01520:long intergenic non-protein coding RNA 1520 [Gene - HGNC]
- LINC02870:long intergenic non-protein coding RNA 2870 [Gene - HGNC]
- KAT6B:lysine acetyltransferase 6B [Gene - OMIM - HGNC]
- LYZL1:lysozyme like 1 [Gene - HGNC]
- LYZL2:lysozyme like 2 [Gene - OMIM - HGNC]
- LOXL4:lysyl oxidase like 4 [Gene - OMIM - HGNC]
- MACROH2A2:macroH2A.2 histone [Gene - OMIM - HGNC]
- MFSD13A:major facilitator superfamily domain containing 13A [Gene - OMIM - HGNC]
- MBL2:mannose binding lectin 2 [Gene - OMIM - HGNC]
- MKI67:marker of proliferation Ki-67 [Gene - OMIM - HGNC]
- MMP21:matrix metallopeptidase 21 [Gene - OMIM - HGNC]
- MEIG1:meiosis/spermiogenesis associated 1 [Gene - OMIM - HGNC]
- MARCHF5:membrane associated ring-CH-type finger 5 [Gene - OMIM - HGNC]
- MARCHF8:membrane associated ring-CH-type finger 8 [Gene - OMIM - HGNC]
- MAT1A:methionine adenosyltransferase 1A [Gene - OMIM - HGNC]
- MSRB2:methionine sulfoxide reductase B2 [Gene - OMIM - HGNC]
- MIR107:microRNA 107 [Gene - OMIM - HGNC]
- MIR146B:microRNA 146b [Gene - OMIM - HGNC]
- MIR1915:microRNA 1915 [Gene - OMIM - HGNC]
- MIR346:microRNA 346 [Gene - OMIM - HGNC]
- MSMB:microseminoprotein beta [Gene - OMIM - HGNC]
- MASTL:microtubule associated serine/threonine kinase like [Gene - OMIM - HGNC]
- MCM10:minichromosome maintenance 10 replication initiation factor [Gene - OMIM - HGNC]
- MCMBP:minichromosome maintenance complex binding protein [Gene - OMIM - HGNC]
- MCU:mitochondrial calcium uniporter [Gene - OMIM - HGNC]
- MICU1:mitochondrial calcium uptake 1 [Gene - OMIM - HGNC]
- MTPAP:mitochondrial poly(A) polymerase [Gene - OMIM - HGNC]
- MRPL43:mitochondrial ribosomal protein L43 [Gene - OMIM - HGNC]
- MRPS16:mitochondrial ribosomal protein S16 [Gene - OMIM - HGNC]
- MTG1:mitochondrial ribosome associated GTPase 1 [Gene - HGNC]
- MAPK8:mitogen-activated protein kinase 8 [Gene - OMIM - HGNC]
- MAP3K8:mitogen-activated protein kinase kinase kinase 8 [Gene - OMIM - HGNC]
- MKX:mohawk homeobox [Gene - OMIM - HGNC]
- MMRN2:multimerin 2 [Gene - OMIM - HGNC]
- MINPP1:multiple inositol-polyphosphate phosphatase 1 [Gene - OMIM - HGNC]
- MYOF:myoferlin [Gene - OMIM - HGNC]
- MYPN:myopalladin [Gene - OMIM - HGNC]
- MYO3A:myosin IIIA [Gene - OMIM - HGNC]
- MYOZ1:myozenin 1 [Gene - OMIM - HGNC]
- NANOS1:nanos C2HC-type zinc finger 1 [Gene - OMIM - HGNC]
- NEBL:nebulette [Gene - OMIM - HGNC]
- NRAP:nebulin related anchoring protein [Gene - OMIM - HGNC]
- NEURL1:neuralized E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
- NRG3:neuregulin 3 [Gene - OMIM - HGNC]
- NET1:neuroepithelial cell transforming 1 [Gene - OMIM - HGNC]
- NEUROG3:neurogenin 3 [Gene - OMIM - HGNC]
- NPFFR1:neuropeptide FF receptor 1 [Gene - OMIM - HGNC]
- NPS:neuropeptide S [Gene - OMIM - HGNC]
- NPY4R:neuropeptide Y receptor Y4 [Gene - OMIM - HGNC]
- NRP1:neuropilin 1 [Gene - OMIM - HGNC]
- NODAL:nodal growth differentiation factor [Gene - OMIM - HGNC]
- NFKB2:nuclear factor kappa B subunit 2 [Gene - OMIM - HGNC]
- NRBF2:nuclear receptor binding factor 2 [Gene - OMIM - HGNC]
- NCOA4:nuclear receptor coactivator 4 [Gene - OMIM - HGNC]
- NOLC1:nucleolar and coiled-body phosphoprotein 1 [Gene - OMIM - HGNC]
- NPM3:nucleophosmin/nucleoplasmin 3 [Gene - OMIM - HGNC]
- NUDT13:nudix hydrolase 13 [Gene - OMIM - HGNC]
- NUDT5:nudix hydrolase 5 [Gene - OMIM - HGNC]
- OLAH:oleoyl-ACP hydrolase [Gene - HGNC]
- OR13A1:olfactory receptor family 13 subfamily A member 1 [Gene - HGNC]
- OPALIN:oligodendrocytic myelin paranodal and inner loop protein [Gene - OMIM - HGNC]
- OIT3:oncoprotein induced transcript 3 [Gene - OMIM - HGNC]
- OPN4:opsin 4 [Gene - OMIM - HGNC]
- OPTN:optineurin [Gene - OMIM - HGNC]
- OAT:ornithine aminotransferase [Gene - OMIM - HGNC]
- ODAD2:outer dynein arm docking complex subunit 2 [Gene - OMIM - HGNC]
- OGDHL:oxoglutarate dehydrogenase L [Gene - OMIM - HGNC]
- PAX2:paired box 2 [Gene - OMIM - HGNC]
- PITX3:paired like homeodomain 3 [Gene - OMIM - HGNC]
- PTF1A:pancreas associated transcription factor 1a [Gene - OMIM - HGNC]
- PNLIPRP1:pancreatic lipase related protein 1 [Gene - OMIM - HGNC]
- PNLIPRP2:pancreatic lipase related protein 2 (gene/pseudogene) [Gene - OMIM - HGNC]
- PNLIPRP3:pancreatic lipase related protein 3 [Gene - HGNC]
- PNLIP:pancreatic lipase [Gene - OMIM - HGNC]
- PANK1:pantothenate kinase 1 [Gene - OMIM - HGNC]
- PARD3:par-3 family cell polarity regulator [Gene - OMIM - HGNC]
- PTCHD3:patched domain containing 3 (gene/pseudogene) [Gene - OMIM - HGNC]
- PPIF:peptidylprolyl isomerase F [Gene - OMIM - HGNC]
- PRF1:perforin 1 [Gene - OMIM - HGNC]
- PRDX3:peroxiredoxin 3 [Gene - OMIM - HGNC]
- PRXL2A:peroxiredoxin like 2A [Gene - OMIM - HGNC]
- PBLD:phenazine biosynthesis like protein domain containing [Gene - OMIM - HGNC]
- PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
- PALD1:phosphatase domain containing paladin 1 [Gene - OMIM - HGNC]
- PI4K2A:phosphatidylinositol 4-kinase type 2 alpha [Gene - OMIM - HGNC]
- PIP4K2A:phosphatidylinositol-5-phosphate 4-kinase type 2 alpha [Gene - OMIM - HGNC]
- PDE6C:phosphodiesterase 6C [Gene - OMIM - HGNC]
- PFKP:phosphofructokinase, platelet [Gene - OMIM - HGNC]
- PGAM1:phosphoglycerate mutase 1 [Gene - OMIM - HGNC]
- PIK3AP1:phosphoinositide-3-kinase adaptor protein 1 [Gene - OMIM - HGNC]
- PLA2G12B:phospholipase A2 group XIIB [Gene - OMIM - HGNC]
- PLCE1:phospholipase C epsilon 1 [Gene - OMIM - HGNC]
- PLPP4:phospholipid phosphatase 4 [Gene - HGNC]
- LHPP:phospholysine phosphohistidine inorganic pyrophosphate phosphatase [Gene - OMIM - HGNC]
- PRTFDC1:phosphoribosyl transferase domain containing 1 [Gene - OMIM - HGNC]
- PSTK:phosphoseryl-tRNA kinase [Gene - OMIM - HGNC]
- PTER:phosphotriesterase related [Gene - OMIM - HGNC]
- PHYHIPL:phytanoyl-CoA 2-hydroxylase interacting protein like [Gene - HGNC]
- PHYH:phytanoyl-CoA 2-hydroxylase [Gene - OMIM - HGNC]
- PGBD3:piggyBac transposable element derived 3 [Gene - HGNC]
- PITRM1:pitrilysin metallopeptidase 1 [Gene - OMIM - HGNC]
- PLAC9:placenta associated 9 [Gene - OMIM - HGNC]
- PLAU:plasminogen activator, urokinase [Gene - OMIM - HGNC]
- PSD:pleckstrin and Sec7 domain containing [Gene - OMIM - HGNC]
- PLEKHA1:pleckstrin homology domain containing A1 [Gene - OMIM - HGNC]
- PLEKHS1:pleckstrin homology domain containing S1 [Gene - HGNC]
- PLXDC2:plexin domain containing 2 [Gene - OMIM - HGNC]
- PARG:poly(ADP-ribose) glycohydrolase [Gene - OMIM - HGNC]
- PAOX:polyamine oxidase [Gene - OMIM - HGNC]
- PCGF5:polycomb group ring finger 5 [Gene - OMIM - HGNC]
- PCGF6:polycomb group ring finger 6 [Gene - OMIM - HGNC]
- PKD2L1:polycystin 2 like 1, transient receptor potential cation channel [Gene - OMIM - HGNC]
- KCNMA1:potassium calcium-activated channel subfamily M alpha 1 [Gene - OMIM - HGNC]
- KCNK18:potassium two pore domain channel subfamily K member 18 [Gene - OMIM - HGNC]
- KCNIP2:potassium voltage-gated channel interacting protein 2 [Gene - OMIM - HGNC]
- PRPF18:pre-mRNA processing factor 18 [Gene - OMIM - HGNC]
- PDCD11:programmed cell death 11 [Gene - OMIM - HGNC]
- PDCD4:programmed cell death 4 [Gene - OMIM - HGNC]
- PRLHR:prolactin releasing hormone receptor [Gene - OMIM - HGNC]
- PROSER2:proline and serine rich 2 [Gene - HGNC]
- PRAP1:proline rich acidic protein 1 [Gene - OMIM - HGNC]
- P4HA1:prolyl 4-hydroxylase subunit alpha 1 [Gene - OMIM - HGNC]
- PSAP:prosaposin [Gene - OMIM - HGNC]
- PRKCQ:protein kinase C theta [Gene - OMIM - HGNC]
- PRKG1:protein kinase cGMP-dependent 1 [Gene - OMIM - HGNC]
- PPP1R3C:protein phosphatase 1 regulatory subunit 3C [Gene - OMIM - HGNC]
- PPP2R2D:protein phosphatase 2 regulatory subunit Bdelta [Gene - OMIM - HGNC]
- PPP3CB:protein phosphatase 3 catalytic subunit beta [Gene - OMIM - HGNC]
- PTPN20:protein tyrosine phosphatase non-receptor type 20 [Gene - OMIM - HGNC]
- PTPRE:protein tyrosine phosphatase receptor type E [Gene - OMIM - HGNC]
- PCDH15:protocadherin related 15 [Gene - OMIM - HGNC]
- PRINS:psoriasis associated non-protein coding RNA induced by stress [Gene - HGNC]
- PCBD1:pterin-4 alpha-carbinolamine dehydratase 1 [Gene - OMIM - HGNC]
- PYROXD2:pyridine nucleotide-disulphide oxidoreductase domain 2 [Gene - OMIM - HGNC]
- REEP3:receptor accessory protein 3 [Gene - OMIM - HGNC]
- RGS10:regulator of G protein signaling 10 [Gene - OMIM - HGNC]
- RNLS:renalase, FAD dependent amine oxidase [Gene - OMIM - HGNC]
- RET:ret proto-oncogene [Gene - OMIM - HGNC]
- RGR:retinal G protein coupled receptor [Gene - OMIM - HGNC]
- RBP3:retinol binding protein 3 [Gene - OMIM - HGNC]
- RBP4:retinol binding protein 4 [Gene - OMIM - HGNC]
- RTKN2:rhotekin 2 [Gene - OMIM - HGNC]
- RPP30:ribonuclease P/MRP subunit p30 [Gene - OMIM - HGNC]
- RPP38:ribonuclease P/MRP subunit p38 [Gene - OMIM - HGNC]
- RRP12:ribosomal RNA processing 12 homolog [Gene - OMIM - HGNC]
- RPS24:ribosomal protein S24 [Gene - OMIM - HGNC]
- SFRP5:secreted frizzled related protein 5 [Gene - OMIM - HGNC]
- SAR1A:secretion associated Ras related GTPase 1A [Gene - OMIM - HGNC]
- SEPHS1:selenophosphate synthetase 1 [Gene - OMIM - HGNC]
- SEMA4G:semaphorin 4G [Gene - OMIM - HGNC]
- SRGN:serglycin [Gene - OMIM - HGNC]
- STK32C:serine/threonine kinase 32C [Gene - HGNC]
- SPRN:shadow of prion protein [Gene - OMIM - HGNC]
- SHLD2:shieldin complex subunit 2 [Gene - OMIM - HGNC]
- SHTN1:shootin 1 [Gene - OMIM - HGNC]
- SFXN2:sideroflexin 2 [Gene - OMIM - HGNC]
- SFXN3:sideroflexin 3 [Gene - OMIM - HGNC]
- SFXN4:sideroflexin 4 [Gene - OMIM - HGNC]
- STAM:signal transducing adaptor molecule [Gene - OMIM - HGNC]
- SIRT1:sirtuin 1 [Gene - OMIM - HGNC]
- SLIT1:slit guidance ligand 1 [Gene - OMIM - HGNC]
- SNORA12:small nucleolar RNA, H/ACA box 12 [Gene - OMIM - HGNC]
- SLC16A12:solute carrier family 16 member 12 [Gene - OMIM - HGNC]
- SLC16A9:solute carrier family 16 member 9 [Gene - OMIM - HGNC]
- SLC18A2:solute carrier family 18 member A2 [Gene - OMIM - HGNC]
- SLC18A3:solute carrier family 18 member A3 [Gene - OMIM - HGNC]
- SLC25A16:solute carrier family 25 member 16 [Gene - OMIM - HGNC]
- SLC25A28:solute carrier family 25 member 28 [Gene - OMIM - HGNC]
- SLC29A3:solute carrier family 29 member 3 [Gene - OMIM - HGNC]
- SLC35G1:solute carrier family 35 member G1 [Gene - OMIM - HGNC]
- SLC39A12:solute carrier family 39 member 12 [Gene - OMIM - HGNC]
- SORBS1:sorbin and SH3 domain containing 1 [Gene - OMIM - HGNC]
- SORCS1:sortilin related VPS10 domain containing receptor 1 [Gene - OMIM - HGNC]
- SORCS3:sortilin related VPS10 domain containing receptor 3 [Gene - OMIM - HGNC]
- SPAG6:sperm associated antigen 6 [Gene - OMIM - HGNC]
- SGMS1:sphingomyelin synthase 1 [Gene - OMIM - HGNC]
- SGPL1:sphingosine-1-phosphate lyase 1 [Gene - OMIM - HGNC]
- SCD:stearoyl-CoA desaturase [Gene - OMIM - HGNC]
- SAMD8:sterile alpha motif domain containing 8 [Gene - OMIM - HGNC]
- STOX1:storkhead box 1 [Gene - OMIM - HGNC]
- SMC3:structural maintenance of chromosomes 3 [Gene - OMIM - HGNC]
- SVIL:supervillin [Gene - OMIM - HGNC]
- SFTPA1:surfactant protein A1 [Gene - OMIM - HGNC]
- SFTPA2:surfactant protein A2 [Gene - OMIM - HGNC]
- SFTPD:surfactant protein D [Gene - OMIM - HGNC]
- SMNDC1:survival motor neuron domain containing 1 [Gene - OMIM - HGNC]
- SYCE1:synaptonemal complex central element protein 1 [Gene - OMIM - HGNC]
- SYNPO2L:synaptopodin 2 like [Gene - HGNC]
- SYT15:synaptotagmin 15 [Gene - OMIM - HGNC]
- SNCG:synuclein gamma [Gene - OMIM - HGNC]
- TRDMT1:tRNA aspartic acid methyltransferase 1 [Gene - OMIM - HGNC]
- TACR2:tachykinin receptor 2 [Gene - OMIM - HGNC]
- TNKS2:tankyrase 2 [Gene - OMIM - HGNC]
- TCTN3:tectonic family member 3 [Gene - OMIM - HGNC]
- TECTB:tectorin beta [Gene - OMIM - HGNC]
- TEX36:testis expressed 36 [Gene - HGNC]
- TET1:tet methylcytosine dioxygenase 1 [Gene - OMIM - HGNC]
- TSPAN14:tetraspanin 14 [Gene - HGNC]
- TSPAN15:tetraspanin 15 [Gene - OMIM - HGNC]
- THNSL1:threonine synthase like 1 [Gene - OMIM - HGNC]
- TBATA:thymus, brain and testes associated [Gene - OMIM - HGNC]
- TLL2:tolloid like 2 [Gene - OMIM - HGNC]
- TASOR2:transcription activation suppressor family member 2 [Gene - HGNC]
- TCERG1L:transcription elongation regulator 1 like [Gene - HGNC]
- TCF7L2:transcription factor 7 like 2 [Gene - OMIM - HGNC]
- TFAM:transcription factor A, mitochondrial [Gene - OMIM - HGNC]
- TACC2:transforming acidic coiled-coil containing protein 2 [Gene - OMIM - HGNC]
- TIMM23:translocase of inner mitochondrial membrane 23 [Gene - OMIM - HGNC]
- TM9SF3:transmembrane 9 superfamily member 3 [Gene - OMIM - HGNC]
- TMEM254:transmembrane protein 254 [Gene - HGNC]
- TMEM26:transmembrane protein 26 [Gene - OMIM - HGNC]
- TMEM273:transmembrane protein 273 [Gene - HGNC]
- TMEM72:transmembrane protein 72 [Gene - HGNC]
- TRIM8:tripartite motif containing 8 [Gene - OMIM - HGNC]
- TYSND1:trypsin like peroxisomal matrix peptidase 1 [Gene - OMIM - HGNC]
- TUBAL3:tubulin alpha like 3 [Gene - HGNC]
- TUBGCP2:tubulin gamma complex associated protein 2 [Gene - OMIM - HGNC]
- TDRD1:tudor domain containing 1 [Gene - OMIM - HGNC]
- TWNK:twinkle mtDNA helicase [Gene - OMIM - HGNC]
- UBE2D1:ubiquitin conjugating enzyme E2 D1 [Gene - OMIM - HGNC]
- UBTD1:ubiquitin domain containing 1 [Gene - OMIM - HGNC]
- USP54:ubiquitin specific peptidase 54 [Gene - HGNC]
- UNC5B:unc-5 netrin receptor B [Gene - OMIM - HGNC]
- LOC100131132:uncharacterized LOC100131132 [Gene]
- LOC101929662:uncharacterized LOC101929662 [Gene]
- UTF1:undifferentiated embryonic cell transcription factor 1 [Gene - OMIM - HGNC]
- UCMA:upper zone of growth plate and cartilage matrix associated [Gene - HGNC]
- UCN3:urocortin 3 [Gene - OMIM - HGNC]
- UROS:uroporphyrinogen III synthase [Gene - OMIM - HGNC]
- VAX1:ventral anterior homeobox 1 [Gene - OMIM - HGNC]
- VTI1A:vesicle transport through interaction with t-SNAREs 1A [Gene - OMIM - HGNC]
- VIM:vimentin [Gene - OMIM - HGNC]
- VCL:vinculin [Gene - OMIM - HGNC]
- VDAC2:voltage dependent anion channel 2 [Gene - OMIM - HGNC]
- VWA2:von Willebrand factor A domain containing 2 [Gene - OMIM - HGNC]
- ZFAND4:zinc finger AN1-type containing 4 [Gene - HGNC]
- ZCCHC24:zinc finger CCHC-type containing 24 [Gene - HGNC]
- ZDHHC16:zinc finger DHHC-type palmitoyltransferase 16 [Gene - OMIM - HGNC]
- ZDHHC6:zinc finger DHHC-type palmitoyltransferase 6 [Gene - OMIM - HGNC]
- ZEB1:zinc finger E-box binding homeobox 1 [Gene - OMIM - HGNC]
- ZFYVE27:zinc finger FYVE-type containing 27 [Gene - OMIM - HGNC]
- ZMIZ1:zinc finger MIZ-type containing 1 [Gene - OMIM - HGNC]
- ZMYND11:zinc finger MYND-type containing 11 [Gene - OMIM - HGNC]
- ZRANB1:zinc finger RANBP2-type containing 1 [Gene - OMIM - HGNC]
- ZSWIM8:zinc finger SWIM-type containing 8 [Gene - OMIM - HGNC]
- ZNF22:zinc finger protein 22 [Gene - OMIM - HGNC]
- ZNF239:zinc finger protein 239 [Gene - OMIM - HGNC]
- ZNF248:zinc finger protein 248 [Gene - HGNC]
- ZNF25:zinc finger protein 25 [Gene - OMIM - HGNC]
- ZNF32:zinc finger protein 32 [Gene - OMIM - HGNC]
- ZNF33A:zinc finger protein 33A [Gene - OMIM - HGNC]
- ZNF33B:zinc finger protein 33B [Gene - OMIM - HGNC]
- ZNF365:zinc finger protein 365 [Gene - OMIM - HGNC]
- ZNF37A:zinc finger protein 37A [Gene - OMIM - HGNC]
- ZNF438:zinc finger protein 438 [Gene - HGNC]
- ZNF485:zinc finger protein 485 [Gene - HGNC]
- ZNF488:zinc finger protein 488 [Gene - HGNC]
- ZNF503:zinc finger protein 503 [Gene - OMIM - HGNC]
- ZNF511:zinc finger protein 511 [Gene - HGNC]
- ZNF518A:zinc finger protein 518A [Gene - OMIM - HGNC]
- Variant type:
- copy number gain
- Cytogenetic location:
- 10p15.3-q26.3
- Genomic location:
- Chr10: 98087 - 135477883 (on Assembly GRCh37)
- Preferred name:
- GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3
- HGVS:
- This HGVS expression did not pass validation
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000877801 | Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center | no assertion criteria provided | Pathogenic (Jan 5, 2017) | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | unknown | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center, SCV000877801.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing (GTR000295241.2) | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | tissue | not provided | (GTR000295241.2) | not provided | not provided | not provided | not provided |
Last Updated: Mar 26, 2023