GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 18, 2018
- 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:
- RCV000848478.2
Allele description [Variation Report for GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3]
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3
- Genes:
- AGPAT5:1-acylglycerol-3-phosphate O-acyltransferase 5 [Gene - OMIM - HGNC]
- 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]
- BLK:BLK proto-oncogene, Src family tyrosine kinase [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]
- CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]
- COMMD5:COMM domain containing 5 [Gene - OMIM - HGNC]
- COPS5:COP9 signalosome subunit 5 [Gene - OMIM - HGNC]
- CSMD1:CUB and Sushi multiple domains 1 [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]
- DLGAP2:DLG associated protein 2 [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]
- FBXO25:F-box protein 25 [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]
- GATA4:GATA binding protein 4 [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 - 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]
- PINX1:PIN2 (TERF1) interacting telomerase inhibitor 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]
- RP1L1:RP1 like 1 [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]
- ARHGEF10:Rho guanine nucleotide exchange factor 10 [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]
- SOX7:SRY-box transcription factor 7 [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]
- XKR5:XK related 5 [Gene - HGNC]
- XKR6:XK related 6 [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]
- ANGPT2:angiopoietin 2 [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]
- CTSB:cathepsin B [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]
- C8orf74:chromosome 8 open reading frame 74 [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]
- CLDN23:claudin 23 [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]
- DEFA1:defensin alpha 1 [Gene - OMIM - HGNC]
- DEFA1B:defensin alpha 1B [Gene - HGNC]
- DEFA3:defensin alpha 3 [Gene - OMIM - HGNC]
- DEFA4:defensin alpha 4 [Gene - OMIM - HGNC]
- DEFA5:defensin alpha 5 [Gene - OMIM - HGNC]
- DEFA6:defensin alpha 6 [Gene - OMIM - HGNC]
- DEFB103A:defensin beta 103A [Gene - HGNC]
- DEFB103B:defensin beta 103B [Gene - OMIM - HGNC]
- DEFB104A:defensin beta 104A [Gene - HGNC]
- DEFB104B:defensin beta 104B [Gene - HGNC]
- DEFB105A:defensin beta 105A [Gene - HGNC]
- DEFB105B:defensin beta 105B [Gene - HGNC]
- DEFB106A:defensin beta 106A [Gene - HGNC]
- DEFB106B:defensin beta 106B [Gene - HGNC]
- DEFB107A:defensin beta 107A [Gene - HGNC]
- DEFB107B:defensin beta 107B [Gene - HGNC]
- DEFB130A:defensin beta 130A [Gene - HGNC]
- DEFB134:defensin beta 134 [Gene - HGNC]
- DEFB135:defensin beta 135 [Gene - HGNC]
- DEFB136:defensin beta 136 [Gene - HGNC]
- DEFB1:defensin beta 1 [Gene - OMIM - HGNC]
- DEFB4A:defensin beta 4A [Gene - OMIM - HGNC]
- DEFB4B:defensin beta 4B [Gene - 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]
- ERI1:exoribonuclease 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]
- FAM167A:family with sequence similarity 167 member A [Gene - OMIM - HGNC]
- FAM83A:family with sequence similarity 83 member A [Gene - HGNC]
- FAM83H:family with sequence similarity 83 member H [Gene - OMIM - HGNC]
- FAM86B1:family with sequence similarity 86 member B1 [Gene - OMIM - HGNC]
- FAM86B2:family with sequence similarity 86 member B2 [Gene - OMIM - HGNC]
- FAM91A1:family with sequence similarity 91 member A1 [Gene - HGNC]
- FDFT1:farnesyl-diphosphate farnesyltransferase 1 [Gene - OMIM - HGNC]
- FNTA:farnesyltransferase, CAAX box, 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]
- ERICH1:glutamate rich 1 [Gene - 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]
- KBTBD11:kelch repeat and BTB domain containing 11 [Gene - OMIM - 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 - 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]
- MSRA:methionine sulfoxide reductase A [Gene - OMIM - HGNC]
- MIR1234:microRNA 1234 [Gene - HGNC]
- MIR124-1:microRNA 124-1 [Gene - OMIM - HGNC]
- MIR320A:microRNA 320a [Gene - OMIM - HGNC]
- MIR661:microRNA 661 [Gene - OMIM - HGNC]
- MCPH1:microcephalin 1 [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]
- MFHAS1:multifunctional ROCO family signaling regulator 1 [Gene - OMIM - HGNC]
- MSC:musculin [Gene - OMIM - HGNC]
- MYOM2:myomesin 2 [Gene - OMIM - HGNC]
- MTMR7:myotubularin related protein 7 [Gene - OMIM - HGNC]
- MTMR9:myotubularin related protein 9 [Gene - OMIM - HGNC]
- NEIL2:nei like DNA glycosylase 2 [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]
- PPP1R3B:protein phosphatase 1 regulatory subunit 3B [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]
- PRSS51:serine protease 51 [Gene - HGNC]
- PRSS55:serine protease 55 [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]
- SLC35G5:solute carrier family 35 member G5 [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]
- SPAG11A:sperm associated antigen 11A [Gene - HGNC]
- SPAG11B:sperm associated antigen 11B [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 - 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]
- TNKS:tankyrase [Gene - OMIM - HGNC]
- TERF1:telomeric repeat binding factor 1 [Gene - OMIM - HGNC]
- TDRP:testis development related protein [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]
- USP17L1:ubiquitin specific peptidase 17 like family member 1 [Gene - HGNC]
- USP17L2:ubiquitin specific peptidase 17 like family member 2 [Gene - OMIM - HGNC]
- USP17L3:ubiquitin specific peptidase 17 like family member 3 [Gene - HGNC]
- USP17L4:ubiquitin specific peptidase 17 like family member 4 [Gene - HGNC]
- USP17L7:ubiquitin specific peptidase 17 like family member 7 [Gene - HGNC]
- USP17L8:ubiquitin specific peptidase 17 like family member 8 [Gene - 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]
- ZNF596:zinc finger protein 596 [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]
- ZNF705B:zinc finger protein 705B [Gene - HGNC]
- ZNF705D:zinc finger protein 705D [Gene - HGNC]
- ZNF705G:zinc finger protein 705G [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:
- 8p23.3-q24.3
- Genomic location:
- Chr8: 158048 - 146295771 (on Assembly GRCh37)
- Preferred name:
- GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)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 |
---|---|---|---|---|---|---|
SCV000990620 | Bionano Laboratories | no assertion criteria provided | Pathogenic (Sep 18, 2018) | 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 Bionano Laboratories, SCV000990620.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | Buccal | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 14, 2023