ClinVar

GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3

Genes:

• AGPAT5:1-acylglycerol-3-phosphate O-acyltransferase 5 [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]
• ASAH1-AS1:ASAH1 antisense RNA 1 [Gene - HGNC]
• ASH2L:ASH2 like, histone lysine methyltransferase complex subunit [Gene - OMIM - HGNC]
• ATP6V1B2:ATPase H+ transporting V1 subunit B2 [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]
• BRF2:BRF2 RNA polymerase III transcription initiation factor subunit [Gene - OMIM - HGNC]
• CNOT7:CCR4-NOT transcription complex subunit 7 [Gene - OMIM - HGNC]
• CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]
• CSMD1:CUB and Sushi multiple domains 1 [Gene - OMIM - HGNC]
• DDHD2:DDHD domain containing 2 [Gene - OMIM - HGNC]
• DLC1:DLC1 Rho GTPase activating protein [Gene - OMIM - HGNC]
• DLGAP2:DLG associated protein 2 [Gene - OMIM - HGNC]
• EBF2:EBF transcription factor 2 [Gene - OMIM - HGNC]
• ERLIN2:ER lipid raft associated 2 [Gene - OMIM - HGNC]
• FBXO16:F-box protein 16 [Gene - OMIM - HGNC]
• FBXO25:F-box protein 25 [Gene - OMIM - HGNC]
• FHIP2B:FHF complex subunit HOOK interacting protein 2B [Gene - OMIM - HGNC]
• GATA4:GATA binding protein 4 [Gene - OMIM - HGNC]
• GFRA2:GDNF family receptor alpha 2 [Gene - OMIM - HGNC]
• GINS4:GINS complex subunit 4 [Gene - OMIM - HGNC]
• HR:HR lysine demethylase and nuclear receptor corepressor [Gene - OMIM - HGNC]
• HTRA4:HtrA serine peptidase 4 [Gene - OMIM - HGNC]
• LONRF1:LON peptidase N-terminal domain and ring finger 1 [Gene - HGNC]
• LSM1:LSM1 homolog, mRNA degradation associated [Gene - OMIM - HGNC]
• MAK16:MAK16 homolog [Gene - HGNC]
• NAT1:N-acetyltransferase 1 [Gene - OMIM - HGNC]
• NAT2:N-acetyltransferase 2 [Gene - OMIM - HGNC]
• ASAH1:N-acylsphingosine amidohydrolase 1 [Gene - OMIM - 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]
• PDLIM2:PDZ and LIM domain 2 [Gene - OMIM - HGNC]
• PBK:PDZ binding kinase [Gene - OMIM - HGNC]
• PINX1:PIN2 (TERF1) interacting telomerase inhibitor 1 [Gene - OMIM - HGNC]
• PNMA2:PNMA family member 2 [Gene - OMIM - HGNC]
• R3HCC1:R3H domain and coiled-coil containing 1 [Gene - HGNC]
• RAB11FIP1:RAB11 family interacting protein 1 [Gene - OMIM - HGNC]
• RBPMS:RNA binding protein, mRNA processing factor [Gene - OMIM - HGNC]
• POLR3D:RNA polymerase III subunit D [Gene - OMIM - HGNC]
• RP1L1:RP1 like 1 [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]
• SOX7:SRY-box transcription factor 7 [Gene - OMIM - HGNC]
• TTI2:TELO2 interacting protein 2 [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]
• UBXN8:UBX domain protein 8 [Gene - OMIM - HGNC]
• VPS37A:VPS37A subunit of ESCRT-I [Gene - OMIM - HGNC]
• WRN:WRN RecQ like helicase [Gene - OMIM - HGNC]
• XKR5:XK related 5 [Gene - HGNC]
• XKR6:XK related 6 [Gene - HGNC]
• ADGRA2:adhesion G protein-coupled receptor A2 [Gene - OMIM - HGNC]
• ADRA1A:adrenoceptor alpha 1A [Gene - OMIM - HGNC]
• ADRB3:adrenoceptor beta 3 [Gene - OMIM - HGNC]
• ANGPT2:angiopoietin 2 [Gene - OMIM - HGNC]
• ANK1:ankyrin 1 [Gene - OMIM - HGNC]
• BMP1:bone morphogenetic protein 1 [Gene - OMIM - HGNC]
• BIN3:bridging integrator 3 [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]
• CHMP7:charged multivesicular body protein 7 [Gene - OMIM - HGNC]
• CHRNA2:cholinergic receptor nicotinic alpha 2 subunit [Gene - OMIM - HGNC]
• CSGALNACT1:chondroitin sulfate N-acetylgalactosaminyltransferase 1 [Gene - OMIM - 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]
• CLDN23:claudin 23 [Gene - OMIM - HGNC]
• CLU:clusterin [Gene - OMIM - HGNC]
• CCDC25:coiled-coil domain containing 25 [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]
• DPYSL2:dihydropyrimidinase like 2 [Gene - OMIM - HGNC]
• DOK2:docking protein 2 [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]
• EGR3:early growth response 3 [Gene - OMIM - HGNC]
• ENTPD4:ectonucleoside triphosphate diphosphohydrolase 4 [Gene - OMIM - HGNC]
• ELP3:elongator acetyltransferase complex subunit 3 [Gene - OMIM - HGNC]
• EPHX2:epoxide hydrolase 2 [Gene - OMIM - HGNC]
• ESCO2:establishment of sister chromatid cohesion N-acetyltransferase 2 [Gene - OMIM - HGNC]
• EIF4EBP1:eukaryotic translation initiation factor 4E binding protein 1 [Gene - OMIM - HGNC]
• ERI1:exoribonuclease 1 [Gene - OMIM - HGNC]
• EXTL3:exostosin like glycosyltransferase 3 [Gene - OMIM - HGNC]
• XPO7:exportin 7 [Gene - OMIM - HGNC]
• FAM167A:family with sequence similarity 167 member A [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]
• FDFT1:farnesyl-diphosphate farnesyltransferase 1 [Gene - OMIM - HGNC]
• FGL1:fibrinogen like 1 [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]
• FZD3:frizzled class receptor 3 [Gene - OMIM - HGNC]
• FUT10:fucosyltransferase 10 [Gene - OMIM - HGNC]
• GTF2E2:general transcription factor IIE subunit 2 [Gene - OMIM - HGNC]
• ERICH1:glutamate rich 1 [Gene - 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]
• GOLGA7:golgin A7 [Gene - OMIM - HGNC]
• GNRH1:gonadotropin releasing hormone 1 [Gene - OMIM - HGNC]
• HMBOX1:homeobox containing 1 [Gene - OMIM - HGNC]
• IDO1:indoleamine 2,3-dioxygenase 1 [Gene - OMIM - HGNC]
• IDO2:indoleamine 2,3-dioxygenase 2 [Gene - OMIM - HGNC]
• INTS10:integrator complex subunit 10 [Gene - OMIM - HGNC]
• INTS9:integrator complex subunit 9 [Gene - OMIM - HGNC]
• KBTBD11:kelch repeat and BTB domain containing 11 [Gene - OMIM - HGNC]
• KIF13B:kinesin family member 13B [Gene - OMIM - HGNC]
• LEPROTL1:leptin receptor overlapping transcript like 1 [Gene - OMIM - HGNC]
• LGI3:leucine rich repeat LGI family member 3 [Gene - OMIM - 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]
• LINC03042:long intergenic non-protein coding RNA 3042 [Gene - HGNC]
• LOXL2:lysyl oxidase like 2 [Gene - OMIM - HGNC]
• MSR1:macrophage scavenger receptor 1 [Gene - OMIM - HGNC]
• MBOAT4:membrane bound O-acyltransferase domain containing 4 [Gene - OMIM - HGNC]
• MSRA:methionine sulfoxide reductase A [Gene - OMIM - HGNC]
• MIR124-1:microRNA 124-1 [Gene - OMIM - HGNC]
• MIR320A:microRNA 320a [Gene - OMIM - HGNC]
• MCPH1:microcephalin 1 [Gene - OMIM - HGNC]
• MTUS1:microtubule associated scaffold protein 1 [Gene - OMIM - HGNC]
• MICU3:mitochondrial calcium uptake family member 3 [Gene - OMIM - HGNC]
• MFHAS1:multifunctional ROCO family signaling regulator 1 [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]
• NEFL:neurofilament light chain [Gene - OMIM - HGNC]
• NEFM:neurofilament medium chain [Gene - OMIM - HGNC]
• NUGGC:nuclear GTPase, germinal center associated [Gene - OMIM - HGNC]
• NSD3:nuclear receptor binding SET domain protein 3 [Gene - OMIM - HGNC]
• NPM2:nucleophosmin/nucleoplasmin 2 [Gene - OMIM - HGNC]
• NUDT18:nudix hydrolase 18 [Gene - OMIM - HGNC]
• PCM1:pericentriolar material 1 [Gene - OMIM - HGNC]
• PEBP4:phosphatidylethanolamine binding protein 4 [Gene - OMIM - HGNC]
• PLPP5:phospholipid phosphatase 5 [Gene - OMIM - HGNC]
• PHYHIP:phytanoyl-CoA 2-hydroxylase interacting protein [Gene - OMIM - HGNC]
• PIWIL2:piwi like RNA-mediated gene silencing 2 [Gene - OMIM - HGNC]
• PDGFRL:platelet derived growth factor receptor like [Gene - OMIM - HGNC]
• PSD3:pleckstrin and Sec7 domain containing 3 [Gene - OMIM - HGNC]
• PLEKHA2:pleckstrin homology domain containing A2 [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]
• PNOC:prepronociceptin [Gene - OMIM - HGNC]
• PPP1R3B:protein phosphatase 1 regulatory subunit 3B [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]
• PTK2B:protein tyrosine kinase 2 beta [Gene - OMIM - HGNC]
• PURG:purine rich element binding protein G [Gene - OMIM - HGNC]
• PLPBP:pyridoxal phosphate binding protein [Gene - OMIM - HGNC]
• REEP4:receptor accessory protein 4 [Gene - OMIM - HGNC]
• RNF122:ring finger protein 122 [Gene - OMIM - HGNC]
• SGCZ:sarcoglycan zeta [Gene - OMIM - HGNC]
• SCARA3:scavenger receptor class A member 3 [Gene - OMIM - HGNC]
• SCARA5:scavenger receptor class A member 5 [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]
• SMIM18:small integral membrane protein 18 [Gene - HGNC]
• SLC18A1:solute carrier family 18 member A1 [Gene - OMIM - HGNC]
• SLC25A37:solute carrier family 25 member 37 [Gene - OMIM - HGNC]
• SLC35G5:solute carrier family 35 member G5 [Gene - OMIM - HGNC]
• SLC39A14:solute carrier family 39 member 14 [Gene - OMIM - HGNC]
• SLC7A2:solute carrier family 7 member 2 [Gene - OMIM - HGNC]
• SORBS3:sorbin and SH3 domain containing 3 [Gene - OMIM - HGNC]
• SPAG11A:sperm associated antigen 11A [Gene - HGNC]
• SPAG11B:sperm associated antigen 11B [Gene - OMIM - HGNC]
• STC1:stanniocalcin 1 [Gene - OMIM - HGNC]
• STMN4:stathmin 4 [Gene - OMIM - HGNC]
• STAR:steroidogenic acute regulatory protein [Gene - OMIM - HGNC]
• SARAF:store-operated calcium entry associated regulatory factor [Gene - OMIM - HGNC]
• SFTPC:surfactant protein C [Gene - OMIM - HGNC]
• TRMT9B:tRNA methyltransferase 9B (putative) [Gene - OMIM - HGNC]
• TNKS:tankyrase [Gene - OMIM - HGNC]
• TDRP:testis development related protein [Gene - OMIM - HGNC]
• TEX15:testis expressed 15, meiosis and synapsis associated [Gene - OMIM - HGNC]
• TCIM:transcriptional and immune response regulator [Gene - OMIM - HGNC]
• TACC1:transforming acidic coiled-coil containing protein 1 [Gene - OMIM - HGNC]
• TRIM35:tripartite motif containing 35 [Gene - OMIM - HGNC]
• TUSC3:tumor suppressor candidate 3 [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]
• ZDHHC2:zinc finger DHHC-type palmitoyltransferase 2 [Gene - OMIM - HGNC]
• ZMAT4:zinc finger matrin-type 4 [Gene - HGNC]
• ZNF395:zinc finger protein 395 [Gene - OMIM - HGNC]
• ZNF596:zinc finger protein 596 [Gene - HGNC]
• ZNF703:zinc finger protein 703 [Gene - OMIM - HGNC]
• ZNF705B:zinc finger protein 705B [Gene - HGNC]
• ZNF705D:zinc finger protein 705D [Gene - HGNC]
• ZNF705G:zinc finger protein 705G [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

8p23.3-11.21

Genomic location:

Chr8: 158048 - 41600696 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3

HGVS:

This HGVS expression did not pass validation

Observations:

1