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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 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no 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:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

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    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000877801Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
    no assertion criteria provided
    		Pathogenic
    (Jan 5, 2017)     		unknownclinical testing

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing
    (GTR000295241.2)    		not provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providedtissuenot provided
    (GTR000295241.2)    		not providednot providednot providednot provided

    Last Updated: Mar 26, 2023