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GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 15, 2014
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:
RCV000512169.3

Allele description [Variation Report for GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3]

GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3

Genes:
  • DECR1:2,4-dienoyl-CoA reductase 1 [Gene - OMIM - HGNC]
  • BPNT2:3'(2'), 5'-bisphosphate nucleotidase 2 [Gene - OMIM - HGNC]
  • OPLAH:5-oxoprolinase, ATP-hydrolysing [Gene - OMIM - HGNC]
  • ADAMDEC1:ADAM like decysin 1 [Gene - OMIM - HGNC]
  • ADAM18:ADAM metallopeptidase domain 18 [Gene - OMIM - HGNC]
  • ADAM28:ADAM metallopeptidase domain 28 [Gene - OMIM - HGNC]
  • ADAM2:ADAM metallopeptidase domain 2 [Gene - OMIM - HGNC]
  • ADAM32:ADAM metallopeptidase domain 32 [Gene - OMIM - HGNC]
  • ADAM7:ADAM metallopeptidase domain 7 [Gene - OMIM - HGNC]
  • ADAM9:ADAM metallopeptidase domain 9 [Gene - OMIM - HGNC]
  • ARFGEF1:ADP ribosylation factor guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
  • ALKAL1:ALK and LTK ligand 1 [Gene - OMIM - HGNC]
  • ASAH1-AS1:ASAH1 antisense RNA 1 [Gene - HGNC]
  • ASAP1-IT1:ASAP1 intronic transcript 1 [Gene - HGNC]
  • ASH2L:ASH2 like, histone lysine methyltransferase complex subunit [Gene - OMIM - HGNC]
  • ATP6V0D2:ATPase H+ transporting V0 subunit d2 [Gene - OMIM - HGNC]
  • ATP6V1B2:ATPase H+ transporting V1 subunit B2 [Gene - OMIM - HGNC]
  • ATP6V1C1:ATPase H+ transporting V1 subunit C1 [Gene - OMIM - HGNC]
  • ATP6V1H:ATPase H+ transporting V1 subunit H [Gene - OMIM - HGNC]
  • ATAD2:ATPase family AAA domain containing 2 [Gene - OMIM - HGNC]
  • ASAP1:ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 [Gene - OMIM - HGNC]
  • BAALC:BAALC binder of MAP3K1 and KLF4 [Gene - OMIM - HGNC]
  • BAG4:BAG cochaperone 4 [Gene - OMIM - HGNC]
  • BNIP3L:BCL2 interacting protein 3 like [Gene - OMIM - HGNC]
  • BOP1:BOP1 ribosomal biogenesis factor [Gene - OMIM - HGNC]
  • BRF2:BRF2 RNA polymerase III transcription initiation factor subunit [Gene - OMIM - HGNC]
  • C8orf44-SGK3:C8orf44-SGK3 readthrough [Gene - HGNC]
  • CIBAR1:CBY1 interacting BAR domain containing 1 [Gene - OMIM - HGNC]
  • CEBPD:CCAAT enhancer binding protein delta [Gene - OMIM - HGNC]
  • CNOT7:CCR4-NOT transcription complex subunit 7 [Gene - OMIM - HGNC]
  • COMMD5:COMM domain containing 5 [Gene - OMIM - HGNC]
  • COPS5:COP9 signalosome subunit 5 [Gene - OMIM - HGNC]
  • CSMD3:CUB and Sushi multiple domains 3 [Gene - OMIM - HGNC]
  • CYRIB:CYFIP related Rac1 interactor B [Gene - OMIM - HGNC]
  • DCAF13:DDB1 and CUL4 associated factor 13 [Gene - OMIM - HGNC]
  • DCAF4L2:DDB1 and CUL4 associated factor 4 like 2 [Gene - OMIM - HGNC]
  • DDHD2:DDHD domain containing 2 [Gene - OMIM - HGNC]
  • DENND3:DENN domain containing 3 [Gene - OMIM - HGNC]
  • DEPTOR:DEP domain containing MTOR interacting protein [Gene - OMIM - HGNC]
  • DLC1:DLC1 Rho GTPase activating protein [Gene - OMIM - HGNC]
  • POLB:DNA polymerase beta [Gene - OMIM - HGNC]
  • DSCC1:DNA replication and sister chromatid cohesion 1 [Gene - OMIM - HGNC]
  • TOP1MT:DNA topoisomerase I mitochondrial [Gene - OMIM - HGNC]
  • DNAJC5B:DnaJ heat shock protein family (Hsp40) member C5 beta [Gene - OMIM - HGNC]
  • E2F5:E2F transcription factor 5 [Gene - OMIM - HGNC]
  • EBF2:EBF transcription factor 2 [Gene - OMIM - HGNC]
  • EFR3A:EFR3 homolog A [Gene - OMIM - HGNC]
  • ENY2:ENY2 transcription and export complex 2 subunit [Gene - OMIM - HGNC]
  • ERLIN2:ER lipid raft associated 2 [Gene - OMIM - HGNC]
  • EMC2:ER membrane protein complex subunit 2 [Gene - OMIM - HGNC]
  • EYA1:EYA transcriptional coactivator and phosphatase 1 [Gene - OMIM - HGNC]
  • FBXL6:F-box and leucine rich repeat protein 6 [Gene - OMIM - HGNC]
  • FBXO16:F-box protein 16 [Gene - OMIM - HGNC]
  • FBXO32:F-box protein 32 [Gene - OMIM - HGNC]
  • FBXO43:F-box protein 43 [Gene - OMIM - HGNC]
  • FHIP2B:FHF complex subunit HOOK interacting protein 2B [Gene - OMIM - HGNC]
  • GPR20:G protein-coupled receptor 20 [Gene - OMIM - HGNC]
  • GFRA2:GDNF family receptor alpha 2 [Gene - OMIM - HGNC]
  • GFUS:GDP-L-fucose synthase [Gene - OMIM - HGNC]
  • GINS4:GINS complex subunit 4 [Gene - OMIM - HGNC]
  • GLI4:GLI family zinc finger 4 [Gene - OMIM - HGNC]
  • GEM:GTP binding protein overexpressed in skeletal muscle [Gene - OMIM - HGNC]
  • HAS2-AS1:HAS2 antisense RNA 1 [Gene - OMIM - HGNC]
  • HGH1:HGH1 homolog [Gene - OMIM - HGNC]
  • HHLA1:HHLA1 neighbor of OC90 [Gene - OMIM - HGNC]
  • HR:HR lysine demethylase and nuclear receptor corepressor [Gene - OMIM - HGNC]
  • HTRA4:HtrA serine peptidase 4 [Gene - OMIM - HGNC]
  • JRK:Jrk helix-turn-helix protein [Gene - OMIM - HGNC]
  • KHDRBS3:KH RNA binding domain containing, signal transduction associated 3 [Gene - OMIM - HGNC]
  • KLF10:KLF transcription factor 10 [Gene - OMIM - HGNC]
  • LRP12:LDL receptor related protein 12 [Gene - OMIM - HGNC]
  • LONRF1:LON peptidase N-terminal domain and ring finger 1 [Gene - HGNC]
  • LRATD2:LRAT domain containing 2 [Gene - OMIM - HGNC]
  • LSM1:LSM1 homolog, mRNA degradation associated [Gene - OMIM - HGNC]
  • LYPD2:LY6/PLAUR domain containing 2 [Gene - HGNC]
  • LY6S-AS1:LY6S antisense RNA 1 [Gene - HGNC]
  • LYN:LYN proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • LYNX1:Ly6/neurotoxin 1 [Gene - OMIM - HGNC]
  • MAFA:MAF bZIP transcription factor A [Gene - OMIM - HGNC]
  • MAF1:MAF1 homolog, negative regulator of RNA polymerase III [Gene - OMIM - HGNC]
  • MAK16:MAK16 homolog [Gene - HGNC]
  • MTBP:MDM2 binding protein [Gene - OMIM - HGNC]
  • MOS:MOS proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
  • MTSS1:MTSS I-BAR domain containing 1 [Gene - OMIM - HGNC]
  • MYBL1:MYB proto-oncogene like 1 [Gene - OMIM - HGNC]
  • MYC:MYC proto-oncogene, bHLH transcription factor [Gene - OMIM - HGNC]
  • NAT1:N-acetyltransferase 1 [Gene - OMIM - HGNC]
  • NAT2:N-acetyltransferase 2 [Gene - OMIM - HGNC]
  • ASAH1:N-acylsphingosine amidohydrolase 1 [Gene - OMIM - HGNC]
  • NDRG1:N-myc downstream regulated 1 [Gene - OMIM - HGNC]
  • NECAB1:N-terminal EF-hand calcium binding protein 1 [Gene - HGNC]
  • NTAQ1:N-terminal glutamine amidase 1 [Gene - HGNC]
  • NDUFAF6:NADH:ubiquinone oxidoreductase complex assembly factor 6 [Gene - OMIM - HGNC]
  • NDUFB9:NADH:ubiquinone oxidoreductase subunit B9 [Gene - OMIM - HGNC]
  • NIPAL2:NIPA like domain containing 2 [Gene - HGNC]
  • NKX2-6:NK2 homeobox 6 [Gene - OMIM - HGNC]
  • NKX3-1:NK3 homeobox 1 [Gene - OMIM - HGNC]
  • NKX6-3:NK6 homeobox 3 [Gene - OMIM - HGNC]
  • NSMCE2:NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase [Gene - OMIM - HGNC]
  • NUDCD1:NudC domain containing 1 [Gene - OMIM - HGNC]
  • OTUD6B:OTU deubiquitinase 6B [Gene - OMIM - HGNC]
  • PDLIM2:PDZ and LIM domain 2 [Gene - OMIM - HGNC]
  • PBK:PDZ binding kinase [Gene - OMIM - HGNC]
  • PHF20L1:PHD finger protein 20 like 1 [Gene - OMIM - HGNC]
  • PKHD1L1:PKHD1 like 1 [Gene - OMIM - HGNC]
  • PLAG1:PLAG1 zinc finger [Gene - OMIM - HGNC]
  • PNMA2:PNMA family member 2 [Gene - OMIM - HGNC]
  • POP1:POP1 homolog, ribonuclease P/MRP subunit [Gene - OMIM - HGNC]
  • POTEA:POTE ankyrin domain family member A [Gene - OMIM - HGNC]
  • POU5F1B:POU class 5 homeobox 1B [Gene - OMIM - HGNC]
  • PRDM14:PR/SET domain 14 [Gene - OMIM - HGNC]
  • PVT1:Pvt1 oncogene [Gene - OMIM - HGNC]
  • RSPO2:R-spondin 2 [Gene - OMIM - HGNC]
  • R3HCC1:R3H domain and coiled-coil containing 1 [Gene - HGNC]
  • RAB11FIP1:RAB11 family interacting protein 1 [Gene - OMIM - HGNC]
  • RAB2A:RAB2A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAD21:RAD21 cohesin complex component [Gene - OMIM - HGNC]
  • RAD54B:RAD54 homolog B [Gene - OMIM - HGNC]
  • RALYL:RALY RNA binding protein like [Gene - OMIM - HGNC]
  • RB1CC1:RB1 inducible coiled-coil 1 [Gene - OMIM - HGNC]
  • RDH10-AS1:RDH10 antisense RNA 1 [Gene - HGNC]
  • RBM12B:RNA binding motif protein 12B [Gene - HGNC]
  • RBPMS:RNA binding protein, mRNA processing factor [Gene - OMIM - HGNC]
  • POLR2K:RNA polymerase II, I and III subunit K [Gene - OMIM - HGNC]
  • POLR3D:RNA polymerase III subunit D [Gene - OMIM - HGNC]
  • RP1:RP1 axonemal microtubule associated [Gene - OMIM - HGNC]
  • RUNX1T1:RUNX1 partner transcriptional co-repressor 1 [Gene - OMIM - HGNC]
  • RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]
  • ARHGAP39:Rho GTPase activating protein 39 [Gene - OMIM - HGNC]
  • RHOBTB2:Rho related BTB domain containing 2 [Gene - OMIM - HGNC]
  • SH2D4A:SH2 domain containing 4A [Gene - OMIM - HGNC]
  • SHARPIN:SHANK associated RH domain interactor [Gene - OMIM - HGNC]
  • SOX17:SRY-box transcription factor 17 [Gene - OMIM - HGNC]
  • ST18:ST18 C2H2C-type zinc finger transcription factor [Gene - OMIM - HGNC]
  • ST3GAL1:ST3 beta-galactoside alpha-2,3-sialyltransferase 1 [Gene - OMIM - HGNC]
  • SLA:Src like adaptor [Gene - OMIM - HGNC]
  • TAF2:TATA-box binding protein associated factor 2 [Gene - OMIM - HGNC]
  • TBC1D31:TBC1 domain family member 31 [Gene - HGNC]
  • TTI2:TELO2 interacting protein 2 [Gene - OMIM - HGNC]
  • THAP1:THAP domain containing 1 [Gene - OMIM - HGNC]
  • TM2D2:TM2 domain containing 2 [Gene - OMIM - HGNC]
  • TNFRSF10A:TNF receptor superfamily member 10a [Gene - OMIM - HGNC]
  • TNFRSF10B:TNF receptor superfamily member 10b [Gene - OMIM - HGNC]
  • TNFRSF10C:TNF receptor superfamily member 10c [Gene - OMIM - HGNC]
  • TNFRSF10D:TNF receptor superfamily member 10d [Gene - OMIM - HGNC]
  • TNFRSF11B:TNF receptor superfamily member 11b [Gene - OMIM - HGNC]
  • TSPYL5:TSPY like 5 [Gene - OMIM - HGNC]
  • TATDN1:TatD DNase domain containing 1 [Gene - OMIM - HGNC]
  • UBR5-DT:UBR5 divergent transcript [Gene - HGNC]
  • UBXN2B:UBX domain protein 2B [Gene - OMIM - HGNC]
  • UBXN8:UBX domain protein 8 [Gene - OMIM - HGNC]
  • UTP23:UTP23 small subunit processome component [Gene - HGNC]
  • VPS28:VPS28 subunit of ESCRT-I [Gene - OMIM - HGNC]
  • VPS37A:VPS37A subunit of ESCRT-I [Gene - OMIM - HGNC]
  • WASHC5:WASH complex subunit 5 [Gene - OMIM - HGNC]
  • WRN:WRN RecQ like helicase [Gene - OMIM - HGNC]
  • WWP1:WW domain containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • XKR4:XK related 4 [Gene - HGNC]
  • XKR9:XK related 9 [Gene - HGNC]
  • YTHDF3:YTH N6-methyladenosine RNA binding protein F3 [Gene - OMIM - HGNC]
  • ZFP41:ZFP41 zinc finger protein [Gene - HGNC]
  • ZHX1-C8orf76:ZHX1-C8orf76 readthrough [Gene - HGNC]
  • ADCK5:aarF domain containing kinase 5 [Gene - HGNC]
  • ABRA:actin binding Rho activating protein [Gene - OMIM - HGNC]
  • ARC:activity regulated cytoskeleton associated protein [Gene - OMIM - HGNC]
  • AP3M2:adaptor related protein complex 3 subunit mu 2 [Gene - OMIM - HGNC]
  • ADCY8:adenylate cyclase 8 [Gene - OMIM - HGNC]
  • ADGRA2:adhesion G protein-coupled receptor A2 [Gene - OMIM - HGNC]
  • ADGRB1:adhesion G protein-coupled receptor B1 [Gene - OMIM - HGNC]
  • ADRA1A:adrenoceptor alpha 1A [Gene - OMIM - HGNC]
  • ADRB3:adrenoceptor beta 3 [Gene - OMIM - HGNC]
  • AARD:alanine and arginine rich domain containing protein [Gene - HGNC]
  • ADHFE1:alcohol dehydrogenase iron containing 1 [Gene - OMIM - HGNC]
  • TTPA:alpha tocopherol transfer protein [Gene - OMIM - HGNC]
  • ANGPT1:angiopoietin 1 [Gene - OMIM - HGNC]
  • ANK1:ankyrin 1 [Gene - OMIM - HGNC]
  • ANKRD46:ankyrin repeat domain 46 [Gene - HGNC]
  • ANXA13:annexin A13 [Gene - OMIM - HGNC]
  • AZIN1:antizyme inhibitor 1 [Gene - OMIM - HGNC]
  • AGO2:argonaute RISC catalytic component 2 [Gene - OMIM - HGNC]
  • ARMC1:armadillo repeat containing 1 [Gene - OMIM - HGNC]
  • ASPH:aspartate beta-hydroxylase [Gene - OMIM - HGNC]
  • BHLHE22:basic helix-loop-helix family member e22 [Gene - OMIM - HGNC]
  • BMP1:bone morphogenetic protein 1 [Gene - OMIM - HGNC]
  • BIN3:bridging integrator 3 [Gene - OMIM - HGNC]
  • PKIA:cAMP-dependent protein kinase inhibitor alpha [Gene - OMIM - HGNC]
  • CDH17:cadherin 17 [Gene - OMIM - HGNC]
  • CLXN:calaxin [Gene - OMIM - HGNC]
  • CALB1:calbindin 1 [Gene - OMIM - HGNC]
  • CA13:carbonic anhydrase 13 [Gene - OMIM - HGNC]
  • CA1:carbonic anhydrase 1 [Gene - OMIM - HGNC]
  • CA2:carbonic anhydrase 2 [Gene - OMIM - HGNC]
  • CA3:carbonic anhydrase 3 [Gene - OMIM - HGNC]
  • CA8:carbonic anhydrase 8 [Gene - OMIM - HGNC]
  • CPA6:carboxypeptidase A6 [Gene - OMIM - HGNC]
  • CPQ:carboxypeptidase Q [Gene - OMIM - HGNC]
  • CCAR2:cell cycle and apoptosis regulator 2 [Gene - OMIM - HGNC]
  • CDCA2:cell division cycle associated 2 [Gene - OMIM - HGNC]
  • CCN3:cellular communication network factor 3 [Gene - OMIM - HGNC]
  • CCN4:cellular communication network factor 4 [Gene - OMIM - HGNC]
  • CSPP1:centrosome and spindle pole associated protein 1 [Gene - OMIM - HGNC]
  • CHMP4C:charged multivesicular body protein 4C [Gene - OMIM - HGNC]
  • CHMP7:charged multivesicular body protein 7 [Gene - OMIM - HGNC]
  • CHRNA2:cholinergic receptor nicotinic alpha 2 subunit [Gene - OMIM - HGNC]
  • CHRNA6:cholinergic receptor nicotinic alpha 6 subunit [Gene - OMIM - HGNC]
  • CHRNB3:cholinergic receptor nicotinic beta 3 subunit [Gene - OMIM - HGNC]
  • CSGALNACT1:chondroitin sulfate N-acetylgalactosaminyltransferase 1 [Gene - OMIM - HGNC]
  • CHRAC1:chromatin accessibility complex subunit 1 [Gene - OMIM - HGNC]
  • CHD7:chromodomain helicase DNA binding protein 7 [Gene - OMIM - HGNC]
  • C8orf33:chromosome 8 open reading frame 33 [Gene - HGNC]
  • C8orf34:chromosome 8 open reading frame 34 [Gene - HGNC]
  • C8orf48:chromosome 8 open reading frame 48 [Gene - HGNC]
  • C8orf58:chromosome 8 open reading frame 58 [Gene - HGNC]
  • C8orf76:chromosome 8 open reading frame 76 [Gene - HGNC]
  • C8orf82:chromosome 8 open reading frame 82 [Gene - HGNC]
  • C8orf17:chromosome 8 putative open reading frame 17 [Gene - OMIM - HGNC]
  • C8orf44:chromosome 8 putative open reading frame 44 [Gene - HGNC]
  • CFAP418:cilia and flagella associated protein 418 [Gene - OMIM - HGNC]
  • CLVS1:clavesin 1 [Gene - OMIM - HGNC]
  • CPSF1:cleavage and polyadenylation specific factor 1 [Gene - OMIM - HGNC]
  • CLU:clusterin [Gene - OMIM - HGNC]
  • CCDC166:coiled-coil domain containing 166 [Gene - HGNC]
  • CCDC25:coiled-coil domain containing 25 [Gene - OMIM - HGNC]
  • CHCHD7:coiled-coil-helix-coiled-coil-helix domain containing 7 [Gene - OMIM - HGNC]
  • CTHRC1:collagen triple helix repeat containing 1 [Gene - OMIM - HGNC]
  • COL14A1:collagen type XIV alpha 1 chain [Gene - OMIM - HGNC]
  • COL22A1:collagen type XXII alpha 1 chain [Gene - OMIM - HGNC]
  • COLEC10:collectin subfamily member 10 [Gene - OMIM - HGNC]
  • CPNE3:copine 3 [Gene - OMIM - HGNC]
  • CRH:corticotropin releasing hormone [Gene - OMIM - HGNC]
  • CNBD1:cyclic nucleotide binding domain containing 1 [Gene - HGNC]
  • CNGB3:cyclic nucleotide gated channel subunit beta 3 [Gene - OMIM - HGNC]
  • CCNE2:cyclin E2 [Gene - OMIM - HGNC]
  • CRISPLD1:cysteine rich secretory protein LCCL domain containing 1 [Gene - HGNC]
  • CYP11B1:cytochrome P450 family 11 subfamily B member 1 [Gene - OMIM - HGNC]
  • CYP11B2:cytochrome P450 family 11 subfamily B member 2 [Gene - OMIM - HGNC]
  • CYP7A1:cytochrome P450 family 7 subfamily A member 1 [Gene - OMIM - HGNC]
  • CYP7B1:cytochrome P450 family 7 subfamily B member 1 [Gene - OMIM - HGNC]
  • COX6C:cytochrome c oxidase subunit 6C [Gene - OMIM - HGNC]
  • CYC1:cytochrome c1 [Gene - OMIM - HGNC]
  • DOCK5:dedicator of cytokinesis 5 [Gene - OMIM - HGNC]
  • DMTN:dematin actin binding protein [Gene - OMIM - HGNC]
  • DCSTAMP:dendrocyte expressed seven transmembrane protein [Gene - OMIM - HGNC]
  • DERL1:derlin 1 [Gene - OMIM - HGNC]
  • DGAT1:diacylglycerol O-acyltransferase 1 [Gene - OMIM - HGNC]
  • DKK4:dickkopf WNT signaling pathway inhibitor 4 [Gene - OMIM - HGNC]
  • DPYSL2:dihydropyrimidinase like 2 [Gene - OMIM - HGNC]
  • DPYS:dihydropyrimidinase [Gene - OMIM - HGNC]
  • DOK2:docking protein 2 [Gene - OMIM - HGNC]
  • DPY19L4:dpy-19 like 4 [Gene - OMIM - HGNC]
  • DUSP26:dual specificity phosphatase 26 [Gene - OMIM - HGNC]
  • DUSP4:dual specificity phosphatase 4 [Gene - OMIM - HGNC]
  • DCTN6:dynactin subunit 6 [Gene - OMIM - HGNC]
  • DNAAF11:dynein axonemal assembly factor 11 [Gene - OMIM - HGNC]
  • EGR3:early growth response 3 [Gene - OMIM - HGNC]
  • ENTPD4:ectonucleoside triphosphate diphosphohydrolase 4 [Gene - OMIM - HGNC]
  • ENPP2:ectonucleotide pyrophosphatase/phosphodiesterase 2 [Gene - OMIM - HGNC]
  • ELP3:elongator acetyltransferase complex subunit 3 [Gene - OMIM - HGNC]
  • ELOC:elongin C [Gene - OMIM - HGNC]
  • EPPK1:epiplakin 1 [Gene - OMIM - HGNC]
  • ESRP1:epithelial splicing regulatory protein 1 [Gene - OMIM - HGNC]
  • EPHX2:epoxide hydrolase 2 [Gene - OMIM - HGNC]
  • ESCO2:establishment of sister chromatid cohesion N-acetyltransferase 2 [Gene - OMIM - HGNC]
  • EBAG9:estrogen receptor binding site associated antigen 9 [Gene - OMIM - HGNC]
  • EEF1D:eukaryotic translation elongation factor 1 delta [Gene - OMIM - HGNC]
  • EIF3E:eukaryotic translation initiation factor 3 subunit E [Gene - OMIM - HGNC]
  • EIF3H:eukaryotic translation initiation factor 3 subunit H [Gene - OMIM - HGNC]
  • EIF4EBP1:eukaryotic translation initiation factor 4E binding protein 1 [Gene - OMIM - HGNC]
  • EXOSC4:exosome component 4 [Gene - OMIM - HGNC]
  • EXT1:exostosin glycosyltransferase 1 [Gene - OMIM - HGNC]
  • EXTL3:exostosin like glycosyltransferase 3 [Gene - OMIM - HGNC]
  • XPO7:exportin 7 [Gene - OMIM - HGNC]
  • FAM110B:family with sequence similarity 110 member B [Gene - OMIM - HGNC]
  • FAM135B:family with sequence similarity 135 member B [Gene - HGNC]
  • FAM83A:family with sequence similarity 83 member A [Gene - HGNC]
  • FAM83H:family with sequence similarity 83 member H [Gene - OMIM - HGNC]
  • FAM91A1:family with sequence similarity 91 member A1 [Gene - HGNC]
  • FNTA:farnesyltransferase, CAAX box, subunit alpha [Gene - OMIM - HGNC]
  • FABP12:fatty acid binding protein 12 [Gene - OMIM - HGNC]
  • FABP4:fatty acid binding protein 4 [Gene - OMIM - HGNC]
  • FABP5:fatty acid binding protein 5 [Gene - OMIM - HGNC]
  • FABP9:fatty acid binding protein 9 [Gene - HGNC]
  • FER1L6:fer-1 like family member 6 [Gene - HGNC]
  • FGL1:fibrinogen like 1 [Gene - OMIM - HGNC]
  • FSBP:fibrinogen silencer binding protein [Gene - OMIM - HGNC]
  • FGF17:fibroblast growth factor 17 [Gene - OMIM - HGNC]
  • FGF20:fibroblast growth factor 20 [Gene - OMIM - HGNC]
  • FGFR1:fibroblast growth factor receptor 1 [Gene - OMIM - HGNC]
  • FOXH1:forkhead box H1 [Gene - OMIM - HGNC]
  • FZD3:frizzled class receptor 3 [Gene - OMIM - HGNC]
  • FZD6:frizzled class receptor 6 [Gene - OMIM - HGNC]
  • FUT10:fucosyltransferase 10 [Gene - OMIM - HGNC]
  • GGH:gamma-glutamyl hydrolase [Gene - OMIM - HGNC]
  • GDAP1:ganglioside induced differentiation associated protein 1 [Gene - OMIM - HGNC]
  • GSDMC:gasdermin C [Gene - OMIM - HGNC]
  • GSDMD:gasdermin D [Gene - OMIM - HGNC]
  • GTF2E2:general transcription factor IIE subunit 2 [Gene - OMIM - HGNC]
  • GRINA:glutamate ionotropic receptor NMDA type subunit associated protein 1 [Gene - OMIM - HGNC]
  • ERICH5:glutamate rich 5 [Gene - HGNC]
  • GPT:glutamic--pyruvic transaminase [Gene - OMIM - HGNC]
  • GOT1L1:glutamic-oxaloacetic transaminase 1 like 1 [Gene - HGNC]
  • GSR:glutathione-disulfide reductase [Gene - OMIM - HGNC]
  • GPAT4:glycerol-3-phosphate acyltransferase 4 [Gene - OMIM - HGNC]
  • GPAA1:glycosylphosphatidylinositol anchor attachment 1 [Gene - OMIM - HGNC]
  • GPIHBP1:glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 [Gene - OMIM - HGNC]
  • GML:glycosylphosphatidylinositol anchored molecule like [Gene - OMIM - HGNC]
  • GOLGA7:golgin A7 [Gene - OMIM - HGNC]
  • GNRH1:gonadotropin releasing hormone 1 [Gene - OMIM - HGNC]
  • GRHL2:grainyhead like transcription factor 2 [Gene - OMIM - HGNC]
  • GDF6:growth differentiation factor 6 [Gene - OMIM - HGNC]
  • HSF1:heat shock transcription factor 1 [Gene - OMIM - HGNC]
  • HGSNAT:heparan-alpha-glucosaminide N-acetyltransferase [Gene - OMIM - HGNC]
  • HNF4G:hepatocyte nuclear factor 4 gamma [Gene - OMIM - HGNC]
  • HEY1:hes related family bHLH transcription factor with YRPW motif 1 [Gene - OMIM - HGNC]
  • HMBOX1:homeobox containing 1 [Gene - OMIM - HGNC]
  • HOOK3:hook microtubule tethering protein 3 [Gene - OMIM - HGNC]
  • HAS2:hyaluronan synthase 2 [Gene - OMIM - HGNC]
  • IDO1:indoleamine 2,3-dioxygenase 1 [Gene - OMIM - HGNC]
  • IDO2:indoleamine 2,3-dioxygenase 2 [Gene - OMIM - HGNC]
  • IKBKB:inhibitor of nuclear factor kappa B kinase subunit beta [Gene - OMIM - HGNC]
  • IMPA1:inositol monophosphatase 1 [Gene - OMIM - HGNC]
  • INTS10:integrator complex subunit 10 [Gene - OMIM - HGNC]
  • INTS8:integrator complex subunit 8 [Gene - OMIM - HGNC]
  • INTS9:integrator complex subunit 9 [Gene - OMIM - HGNC]
  • IL7:interleukin 7 [Gene - OMIM - HGNC]
  • JPH1:junctophilin 1 [Gene - OMIM - HGNC]
  • KLHL38:kelch like family member 38 [Gene - HGNC]
  • KIF13B:kinesin family member 13B [Gene - OMIM - HGNC]
  • KIFC2:kinesin family member C2 [Gene - OMIM - HGNC]
  • LACTB2:lactamase beta 2 [Gene - OMIM - HGNC]
  • LEPROTL1:leptin receptor overlapping transcript like 1 [Gene - OMIM - HGNC]
  • LGI3:leucine rich repeat LGI family member 3 [Gene - OMIM - HGNC]
  • LRRCC1:leucine rich repeat and coiled-coil centrosomal protein 1 [Gene - OMIM - HGNC]
  • LRRC14:leucine rich repeat containing 14 [Gene - OMIM - HGNC]
  • LRRC24:leucine rich repeat containing 24 [Gene - OMIM - HGNC]
  • LRRC69:leucine rich repeat containing 69 [Gene - HGNC]
  • LETM2:leucine zipper and EF-hand containing transmembrane protein 2 [Gene - OMIM - HGNC]
  • LZTS1:leucine zipper tumor suppressor 1 [Gene - OMIM - HGNC]
  • LPL:lipoprotein lipase [Gene - OMIM - HGNC]
  • LINC01602:long intergenic non-protein coding RNA 1602 [Gene - HGNC]
  • LINC02906:long intergenic non-protein coding RNA 2906 [Gene - HGNC]
  • LINC00293:long intergenic non-protein coding RNA 293 [Gene - OMIM - HGNC]
  • LINC03042:long intergenic non-protein coding RNA 3042 [Gene - HGNC]
  • LINC00536:long intergenic non-protein coding RNA 536 [Gene - HGNC]
  • LY6D:lymphocyte antigen 6 family member D [Gene - OMIM - HGNC]
  • LY6E:lymphocyte antigen 6 family member E [Gene - OMIM - HGNC]
  • LY6H:lymphocyte antigen 6 family member H [Gene - OMIM - HGNC]
  • LY6K:lymphocyte antigen 6 family member K [Gene - OMIM - HGNC]
  • LY96:lymphocyte antigen 96 [Gene - OMIM - HGNC]
  • KAT6A:lysine acetyltransferase 6A [Gene - OMIM - HGNC]
  • LYPLA1:lysophospholipase 1 [Gene - OMIM - HGNC]
  • LAPTM4B:lysosomal protein transmembrane 4 beta [Gene - OMIM - HGNC]
  • LOXL2:lysyl oxidase like 2 [Gene - OMIM - HGNC]
  • MSR1:macrophage scavenger receptor 1 [Gene - OMIM - HGNC]
  • MROH1:maestro heat like repeat family member 1 [Gene - HGNC]
  • MROH5:maestro heat like repeat family member 5 (gene/pseudogene) [Gene - HGNC]
  • MROH6:maestro heat like repeat family member 6 [Gene - HGNC]
  • MFSD3:major facilitator superfamily domain containing 3 [Gene - OMIM - HGNC]
  • MAL2:mal, T cell differentiation protein 2 [Gene - OMIM - HGNC]
  • MATN2:matrilin 2 [Gene - OMIM - HGNC]
  • MMP16:matrix metallopeptidase 16 [Gene - OMIM - HGNC]
  • MED30:mediator complex subunit 30 [Gene - OMIM - HGNC]
  • MBOAT4:membrane bound O-acyltransferase domain containing 4 [Gene - OMIM - HGNC]
  • MTDH:metadherin [Gene - OMIM - HGNC]
  • MIR1234:microRNA 1234 [Gene - HGNC]
  • MIR320A:microRNA 320a [Gene - OMIM - HGNC]
  • MIR661:microRNA 661 [Gene - OMIM - HGNC]
  • MTUS1:microtubule associated scaffold protein 1 [Gene - OMIM - HGNC]
  • MCM4:minichromosome maintenance complex component 4 [Gene - OMIM - HGNC]
  • MCMDC2:minichromosome maintenance domain containing 2 [Gene - OMIM - HGNC]
  • MICU3:mitochondrial calcium uptake family member 3 [Gene - OMIM - HGNC]
  • MTFR1:mitochondrial fission regulator 1 [Gene - OMIM - HGNC]
  • MRPL13:mitochondrial ribosomal protein L13 [Gene - OMIM - HGNC]
  • MRPL15:mitochondrial ribosomal protein L15 [Gene - OMIM - HGNC]
  • MRPS28:mitochondrial ribosomal protein S28 [Gene - OMIM - HGNC]
  • MTERF3:mitochondrial transcription termination factor 3 [Gene - OMIM - HGNC]
  • MAPK15:mitogen-activated protein kinase 15 [Gene - OMIM - HGNC]
  • MSC:musculin [Gene - OMIM - HGNC]
  • MTMR7:myotubularin related protein 7 [Gene - OMIM - HGNC]
  • NRG1:neuregulin 1 [Gene - OMIM - HGNC]
  • NCALD:neurocalcin delta [Gene - OMIM - HGNC]
  • NEFL:neurofilament light chain [Gene - OMIM - HGNC]
  • NEFM:neurofilament medium chain [Gene - OMIM - HGNC]
  • NPBWR1:neuropeptides B and W receptor 1 [Gene - OMIM - HGNC]
  • NSMAF:neutral sphingomyelinase activation associated factor [Gene - OMIM - HGNC]
  • NBN:nibrin [Gene - OMIM - HGNC]
  • NAPRT:nicotinate phosphoribosyltransferase [Gene - OMIM - HGNC]
  • NUGGC:nuclear GTPase, germinal center associated [Gene - OMIM - HGNC]
  • NSD3:nuclear receptor binding SET domain protein 3 [Gene - OMIM - HGNC]
  • NRBP2:nuclear receptor binding protein 2 [Gene - OMIM - HGNC]
  • NCOA2:nuclear receptor coactivator 2 [Gene - OMIM - HGNC]
  • NPM2:nucleophosmin/nucleoplasmin 2 [Gene - OMIM - HGNC]
  • NUDT18:nudix hydrolase 18 [Gene - OMIM - HGNC]
  • OSR2:odd-skipped related transciption factor 2 [Gene - OMIM - HGNC]
  • OPRK1:opioid receptor kappa 1 [Gene - OMIM - HGNC]
  • OC90:otoconin 90 [Gene - OMIM - HGNC]
  • ODF1:outer dense fiber of sperm tails 1 [Gene - OMIM - HGNC]
  • OXR1:oxidation resistance 1 [Gene - OMIM - HGNC]
  • OSGIN2:oxidative stress induced growth inhibitor family member 2 [Gene - OMIM - HGNC]
  • PPDPFL:pancreatic progenitor cell differentiation and proliferation factor like [Gene - HGNC]
  • PI15:peptidase inhibitor 15 [Gene - OMIM - HGNC]
  • PCM1:pericentriolar material 1 [Gene - OMIM - HGNC]
  • PMP2:peripheral myelin protein 2 [Gene - OMIM - HGNC]
  • PXDNL:peroxidasin like [Gene - OMIM - HGNC]
  • PEX2:peroxisomal biogenesis factor 2 [Gene - OMIM - HGNC]
  • PEBP4:phosphatidylethanolamine binding protein 4 [Gene - OMIM - HGNC]
  • PREX2:phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 [Gene - OMIM - HGNC]
  • PIP4P2:phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2 [Gene - OMIM - HGNC]
  • PTDSS1:phosphatidylserine synthase 1 [Gene - OMIM - HGNC]
  • PDE7A:phosphodiesterase 7A [Gene - OMIM - HGNC]
  • PLPP5:phospholipid phosphatase 5 [Gene - OMIM - HGNC]
  • PAG1:phosphoprotein membrane anchor with glycosphingolipid microdomains 1 [Gene - OMIM - HGNC]
  • PHYHIP:phytanoyl-CoA 2-hydroxylase interacting protein [Gene - OMIM - HGNC]
  • PIWIL2:piwi like RNA-mediated gene silencing 2 [Gene - OMIM - HGNC]
  • PLAT:plasminogen activator, tissue type [Gene - OMIM - HGNC]
  • PDGFRL:platelet derived growth factor receptor like [Gene - OMIM - HGNC]
  • PSD3:pleckstrin and Sec7 domain containing 3 [Gene - OMIM - HGNC]
  • PLEKHF2:pleckstrin homology and FYVE domain containing 2 [Gene - OMIM - HGNC]
  • PLEKHA2:pleckstrin homology domain containing A2 [Gene - OMIM - HGNC]
  • PLEC:plectin [Gene - OMIM - HGNC]
  • PABPC1:poly(A) binding protein cytoplasmic 1 [Gene - OMIM - HGNC]
  • PARP10:poly(ADP-ribose) polymerase family member 10 [Gene - OMIM - HGNC]
  • PUF60:poly(U) binding splicing factor 60 [Gene - OMIM - HGNC]
  • KCNU1:potassium calcium-activated channel subfamily U member 1 [Gene - OMIM - HGNC]
  • KCTD9:potassium channel tetramerization domain containing 9 [Gene - OMIM - HGNC]
  • KCNK9:potassium two pore domain channel subfamily K member 9 [Gene - OMIM - HGNC]
  • KCNS2:potassium voltage-gated channel modifier subfamily S member 2 [Gene - OMIM - HGNC]
  • KCNV1:potassium voltage-gated channel modifier subfamily V member 1 [Gene - OMIM - HGNC]
  • KCNB2:potassium voltage-gated channel subfamily B member 2 [Gene - OMIM - HGNC]
  • KCNQ3:potassium voltage-gated channel subfamily Q member 3 [Gene - OMIM - HGNC]
  • PNOC:prepronociceptin [Gene - OMIM - HGNC]
  • PENK:proenkephalin [Gene - OMIM - HGNC]
  • PCAT1:prostate cancer associated transcript 1 [Gene - OMIM - HGNC]
  • PSCA:prostate stem cell antigen [Gene - OMIM - HGNC]
  • POMK:protein O-mannose kinase [Gene - OMIM - HGNC]
  • PRKDC:protein kinase, DNA-activated, catalytic subunit [Gene - OMIM - HGNC]
  • PPP1R16A:protein phosphatase 1 regulatory subunit 16A [Gene - OMIM - HGNC]
  • PPP1R42:protein phosphatase 1 regulatory subunit 42 [Gene - OMIM - HGNC]
  • PPP2CB:protein phosphatase 2 catalytic subunit beta [Gene - OMIM - HGNC]
  • PPP2R2A:protein phosphatase 2 regulatory subunit Balpha [Gene - OMIM - HGNC]
  • PPP3CC:protein phosphatase 3 catalytic subunit gamma [Gene - OMIM - HGNC]
  • PSKH2:protein serine kinase H2 [Gene - OMIM - HGNC]
  • PTK2B:protein tyrosine kinase 2 beta [Gene - OMIM - HGNC]
  • PTK2:protein tyrosine kinase 2 [Gene - OMIM - HGNC]
  • PTP4A3:protein tyrosine phosphatase 4A3 [Gene - OMIM - HGNC]
  • PCMTD1:protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 [Gene - OMIM - HGNC]
  • PURG:purine rich element binding protein G [Gene - OMIM - HGNC]
  • PLPBP:pyridoxal phosphate binding protein [Gene - OMIM - HGNC]
  • PYCR3:pyrroline-5-carboxylate reductase 3 [Gene - OMIM - HGNC]
  • PDP1:pyruvate dehydrogenase phosphatase catalytic subunit 1 [Gene - OMIM - HGNC]
  • RIDA:reactive intermediate imine deaminase A homolog [Gene - OMIM - HGNC]
  • REEP4:receptor accessory protein 4 [Gene - OMIM - HGNC]
  • RIPK2:receptor interacting serine/threonine kinase 2 [Gene - OMIM - HGNC]
  • RIMS2:regulating synaptic membrane exocytosis 2 [Gene - OMIM - HGNC]
  • RGS20:regulator of G protein signaling 20 [Gene - OMIM - HGNC]
  • RGS22:regulator of G protein signaling 22 [Gene - OMIM - HGNC]
  • RMDN1:regulator of microtubule dynamics 1 [Gene - OMIM - HGNC]
  • RDH10:retinol dehydrogenase 10 [Gene - OMIM - HGNC]
  • RHPN1:rhophilin Rho GTPase binding protein 1 [Gene - OMIM - HGNC]
  • RRM2B:ribonucleotide reductase regulatory TP53 inducible subunit M2B [Gene - OMIM - HGNC]
  • RBIS:ribosomal biogenesis factor [Gene - HGNC]
  • RPL30:ribosomal protein L30 [Gene - OMIM - HGNC]
  • RPL7:ribosomal protein L7 [Gene - OMIM - HGNC]
  • RPL8:ribosomal protein L8 [Gene - OMIM - HGNC]
  • RPS20:ribosomal protein S20 [Gene - OMIM - HGNC]
  • RRS1:ribosome biogenesis regulator 1 homolog [Gene - OMIM - HGNC]
  • RNF122:ring finger protein 122 [Gene - OMIM - HGNC]
  • RNF139:ring finger protein 139 [Gene - OMIM - HGNC]
  • RNF170:ring finger protein 170 [Gene - OMIM - HGNC]
  • RNF19A:ring finger protein 19A, RBR E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
  • SGCZ:sarcoglycan zeta [Gene - OMIM - HGNC]
  • SPIDR:scaffold protein involved in DNA repair [Gene - OMIM - HGNC]
  • SCARA3:scavenger receptor class A member 3 [Gene - OMIM - HGNC]
  • SCARA5:scavenger receptor class A member 5 [Gene - OMIM - HGNC]
  • SCX:scleraxis bHLH transcription factor [Gene - OMIM - HGNC]
  • SCRT1:scratch family transcriptional repressor 1 [Gene - OMIM - HGNC]
  • SCRIB:scribble planar cell polarity protein [Gene - OMIM - HGNC]
  • SLURP1:secreted LY6/PLAUR domain containing 1 [Gene - OMIM - HGNC]
  • SFRP1:secreted frizzled related protein 1 [Gene - OMIM - HGNC]
  • STK3:serine/threonine kinase 3 [Gene - OMIM - HGNC]
  • SGK3:serum/glucocorticoid regulated kinase family member 3 [Gene - OMIM - HGNC]
  • SDR16C5:short chain dehydrogenase/reductase family 16C member 5 [Gene - OMIM - HGNC]
  • SMIM18:small integral membrane protein 18 [Gene - HGNC]
  • SMIM19:small integral membrane protein 19 [Gene - HGNC]
  • SNHG6:small nucleolar RNA host gene 6 [Gene - OMIM - HGNC]
  • SNORD87:small nucleolar RNA, C/D box 87 [Gene - OMIM - HGNC]
  • SNAI2:snail family transcriptional repressor 2 [Gene - OMIM - HGNC]
  • NKAIN3:sodium/potassium transporting ATPase interacting 3 [Gene - OMIM - HGNC]
  • SLC10A5:solute carrier family 10 member 5 [Gene - OMIM - HGNC]
  • SLC18A1:solute carrier family 18 member A1 [Gene - OMIM - HGNC]
  • SLC20A2:solute carrier family 20 member 2 [Gene - OMIM - HGNC]
  • SLC25A32:solute carrier family 25 member 32 [Gene - OMIM - HGNC]
  • SLC25A37:solute carrier family 25 member 37 [Gene - OMIM - HGNC]
  • SLC26A7:solute carrier family 26 member 7 [Gene - OMIM - HGNC]
  • SLC30A8:solute carrier family 30 member 8 [Gene - OMIM - HGNC]
  • SLC39A14:solute carrier family 39 member 14 [Gene - OMIM - HGNC]
  • SLC39A4:solute carrier family 39 member 4 [Gene - OMIM - HGNC]
  • SLC45A4:solute carrier family 45 member 4 [Gene - OMIM - HGNC]
  • SLC52A2:solute carrier family 52 member 2 [Gene - OMIM - HGNC]
  • SLC7A13:solute carrier family 7 member 13 [Gene - OMIM - HGNC]
  • SLC7A2:solute carrier family 7 member 2 [Gene - OMIM - HGNC]
  • SLCO5A1:solute carrier organic anion transporter family member 5A1 [Gene - OMIM - HGNC]
  • SBSPON:somatomedin B and thrombospondin type 1 domain containing [Gene - HGNC]
  • SORBS3:sorbin and SH3 domain containing 3 [Gene - OMIM - HGNC]
  • SNX16:sorting nexin 16 [Gene - OMIM - HGNC]
  • SNX31:sorting nexin 31 [Gene - OMIM - HGNC]
  • SPAG1:sperm associated antigen 1 [Gene - OMIM - HGNC]
  • SPATC1:spermatogenesis and centriole associated 1 [Gene - OMIM - HGNC]
  • SQLE:squalene epoxidase [Gene - OMIM - HGNC]
  • STC1:stanniocalcin 1 [Gene - OMIM - HGNC]
  • STMN2:stathmin 2 [Gene - OMIM - HGNC]
  • STMN4:stathmin 4 [Gene - OMIM - HGNC]
  • STAU2:staufen double-stranded RNA binding protein 2 [Gene - OMIM - HGNC]
  • SAMD12:sterile alpha motif domain containing 12 [Gene - OMIM - HGNC]
  • STAR:steroidogenic acute regulatory protein [Gene - OMIM - HGNC]
  • SARAF:store-operated calcium entry associated regulatory factor [Gene - OMIM - HGNC]
  • SULF1:sulfatase 1 [Gene - OMIM - HGNC]
  • SFTPC:surfactant protein C [Gene - OMIM - HGNC]
  • SDC2:syndecan 2 [Gene - OMIM - HGNC]
  • SDCBP:syndecan binding protein [Gene - OMIM - HGNC]
  • SYBU:syntabulin [Gene - OMIM - HGNC]
  • SNTB1:syntrophin beta 1 [Gene - OMIM - HGNC]
  • SNTG1:syntrophin gamma 1 [Gene - OMIM - HGNC]
  • TSNARE1:t-SNARE domain containing 1 [Gene - HGNC]
  • TRMT12:tRNA methyltransferase 12 homolog [Gene - OMIM - HGNC]
  • TRMT9B:tRNA methyltransferase 9B (putative) [Gene - OMIM - HGNC]
  • TERF1:telomeric repeat binding factor 1 [Gene - OMIM - HGNC]
  • TEX15:testis expressed 15, meiosis and synapsis associated [Gene - OMIM - HGNC]
  • THEM6:thioesterase superfamily member 6 [Gene - HGNC]
  • TOX:thymocyte selection associated high mobility group box [Gene - OMIM - HGNC]
  • TG:thyroglobulin [Gene - OMIM - HGNC]
  • TRHR:thyrotropin releasing hormone receptor [Gene - OMIM - HGNC]
  • TIGD5:tigger transposable element derived 5 [Gene - HGNC]
  • TONSL:tonsoku like, DNA repair protein [Gene - OMIM - HGNC]
  • TRAPPC9:trafficking protein particle complex subunit 9 [Gene - OMIM - HGNC]
  • TCEA1:transcription elongation factor A1 [Gene - OMIM - HGNC]
  • TCF24:transcription factor 24 [Gene - HGNC]
  • TCIM:transcriptional and immune response regulator [Gene - OMIM - HGNC]
  • TRPS1:transcriptional repressor GATA binding 1 [Gene - OMIM - HGNC]
  • TACC1:transforming acidic coiled-coil containing protein 1 [Gene - OMIM - HGNC]
  • TRPA1:transient receptor potential cation channel subfamily A member 1 [Gene - OMIM - HGNC]
  • TRAM1:translocation associated membrane protein 1 [Gene - OMIM - HGNC]
  • TMEM249:transmembrane protein 249 [Gene - HGNC]
  • TMEM64:transmembrane protein 64 [Gene - OMIM - HGNC]
  • TMEM65:transmembrane protein 65 [Gene - OMIM - HGNC]
  • TMEM67:transmembrane protein 67 [Gene - OMIM - HGNC]
  • TMEM68:transmembrane protein 68 [Gene - HGNC]
  • TMEM70:transmembrane protein 70 [Gene - OMIM - HGNC]
  • TMEM71:transmembrane protein 71 [Gene - OMIM - HGNC]
  • TMEM74:transmembrane protein 74 [Gene - OMIM - HGNC]
  • TRIB1:tribbles pseudokinase 1 [Gene - OMIM - HGNC]
  • TGS1:trimethylguanosine synthase 1 [Gene - OMIM - HGNC]
  • TRIM35:tripartite motif containing 35 [Gene - OMIM - HGNC]
  • TRIM55:tripartite motif containing 55 [Gene - OMIM - HGNC]
  • TRIQK:triple QxxK/R motif containing [Gene - HGNC]
  • TPD52:tumor protein D52 [Gene - OMIM - HGNC]
  • TP53INP1:tumor protein p53 inducible nuclear protein 1 [Gene - OMIM - HGNC]
  • TUSC3:tumor suppressor candidate 3 [Gene - OMIM - HGNC]
  • YWHAZ:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta [Gene - OMIM - HGNC]
  • UQCRB:ubiquinol-cytochrome c reductase binding protein [Gene - OMIM - HGNC]
  • UBE2V2:ubiquitin conjugating enzyme E2 V2 [Gene - OMIM - HGNC]
  • UBE2W:ubiquitin conjugating enzyme E2 W [Gene - OMIM - HGNC]
  • UBR5:ubiquitin protein ligase E3 component n-recognin 5 [Gene - OMIM - HGNC]
  • UNC5D:unc-5 netrin receptor D [Gene - OMIM - HGNC]
  • VPS13B:vacuolar protein sorting 13 homolog B [Gene - OMIM - HGNC]
  • VCPIP1:valosin containing protein interacting protein 1 [Gene - OMIM - HGNC]
  • VXN:vexin [Gene - HGNC]
  • VIRMA:vir like m6A methyltransferase associated [Gene - OMIM - HGNC]
  • VDAC3:voltage dependent anion channel 3 [Gene - OMIM - HGNC]
  • ZFAND1:zinc finger AN1-type containing 1 [Gene - HGNC]
  • ZC2HC1A:zinc finger C2HC-type containing 1A [Gene - HGNC]
  • ZC3H3:zinc finger CCCH-type containing 3 [Gene - OMIM - HGNC]
  • ZDHHC2:zinc finger DHHC-type palmitoyltransferase 2 [Gene - OMIM - HGNC]
  • ZFTRAF1:zinc finger TRAF-type containing 1 [Gene - OMIM - HGNC]
  • ZFAT:zinc finger and AT-hook domain containing [Gene - OMIM - HGNC]
  • ZBTB10:zinc finger and BTB domain containing 10 [Gene - OMIM - HGNC]
  • ZFHX4:zinc finger homeobox 4 [Gene - OMIM - HGNC]
  • ZMAT4:zinc finger matrin-type 4 [Gene - HGNC]
  • ZNF16:zinc finger protein 16 [Gene - OMIM - HGNC]
  • ZNF250:zinc finger protein 250 [Gene - HGNC]
  • ZNF251:zinc finger protein 251 [Gene - HGNC]
  • ZNF34:zinc finger protein 34 [Gene - OMIM - HGNC]
  • ZNF395:zinc finger protein 395 [Gene - OMIM - HGNC]
  • ZNF517:zinc finger protein 517 [Gene - HGNC]
  • ZNF572:zinc finger protein 572 [Gene - HGNC]
  • ZNF623:zinc finger protein 623 [Gene - HGNC]
  • ZNF696:zinc finger protein 696 [Gene - HGNC]
  • ZNF703:zinc finger protein 703 [Gene - OMIM - HGNC]
  • ZNF704:zinc finger protein 704 [Gene - HGNC]
  • ZNF706:zinc finger protein 706 [Gene - OMIM - HGNC]
  • ZNF707:zinc finger protein 707 [Gene - HGNC]
  • ZNF7:zinc finger protein 7 [Gene - OMIM - HGNC]
  • ZFPM2:zinc finger protein, FOG family member 2 [Gene - OMIM - HGNC]
  • ZHX1:zinc fingers and homeoboxes 1 [Gene - OMIM - HGNC]
  • ZHX2:zinc fingers and homeoboxes 2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8p23.1-q24.3
Genomic location:
Chr8: 12490999 - 146295771 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3
HGVS:
    Links:
    dbVar: nssv14082398; dbVar: nsv3109761
    Observations:
    1

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000586295ISCA site 1

    See additional submitters

    no assertion criteria provided
    		Pathogenic
    (Aug 15, 2014)     		unknownclinical testing

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providednot providedyes1not providednot providednot providednot providedclinical testing

    Citations

    PubMed

    Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

    Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

    Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

    PubMed [citation]
    PMID:
    20466091
    PMCID:
    PMC2869000

    Details of each submission

    From ISCA site 1, SCV000586295.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: May 7, 2024