ClinVar

GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3

Genes:

• AGPAT5:1-acylglycerol-3-phosphate O-acyltransferase 5 [Gene - OMIM - HGNC]
• BLK:BLK proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
• CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]
• CSMD1:CUB and Sushi multiple domains 1 [Gene - OMIM - HGNC]
• DLC1:DLC1 Rho GTPase activating protein [Gene - OMIM - HGNC]
• DLGAP2:DLG associated protein 2 [Gene - OMIM - HGNC]
• FBXO25:F-box protein 25 [Gene - OMIM - HGNC]
• GATA4:GATA binding protein 4 [Gene - OMIM - HGNC]
• LONRF1:LON peptidase N-terminal domain and ring finger 1 [Gene - HGNC]
• PINX1:PIN2 (TERF1) interacting telomerase inhibitor 1 [Gene - OMIM - HGNC]
• RP1L1:RP1 like 1 [Gene - OMIM - HGNC]
• ARHGEF10:Rho guanine nucleotide exchange factor 10 [Gene - OMIM - HGNC]
• SOX7:SRY-box transcription factor 7 [Gene - OMIM - HGNC]
• XKR5:XK related 5 [Gene - HGNC]
• XKR6:XK related 6 [Gene - HGNC]
• ANGPT2:angiopoietin 2 [Gene - OMIM - HGNC]
• CTSB:cathepsin B [Gene - OMIM - HGNC]
• C8orf48:chromosome 8 open reading frame 48 [Gene - HGNC]
• C8orf74:chromosome 8 open reading frame 74 [Gene - HGNC]
• CLDN23:claudin 23 [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]
• ERI1:exoribonuclease 1 [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]
• ERICH1:glutamate rich 1 [Gene - HGNC]
• KBTBD11:kelch repeat and BTB domain containing 11 [Gene - OMIM - HGNC]
• MSRA:methionine sulfoxide reductase A [Gene - OMIM - HGNC]
• MIR124-1:microRNA 124-1 [Gene - OMIM - HGNC]
• MCPH1:microcephalin 1 [Gene - OMIM - HGNC]
• MFHAS1:multifunctional ROCO family signaling regulator 1 [Gene - OMIM - HGNC]
• MYOM2:myomesin 2 [Gene - OMIM - HGNC]
• MTMR9:myotubularin related protein 9 [Gene - OMIM - HGNC]
• NEIL2:nei like DNA glycosylase 2 [Gene - OMIM - HGNC]
• PPP1R3B:protein phosphatase 1 regulatory subunit 3B [Gene - OMIM - HGNC]
• SGCZ:sarcoglycan zeta [Gene - OMIM - HGNC]
• PRSS51:serine protease 51 [Gene - HGNC]
• PRSS55:serine protease 55 [Gene - OMIM - HGNC]
• SLC35G5:solute carrier family 35 member G5 [Gene - OMIM - HGNC]
• SPAG11A:sperm associated antigen 11A [Gene - HGNC]
• SPAG11B:sperm associated antigen 11B [Gene - OMIM - HGNC]
• TRMT9B:tRNA methyltransferase 9B (putative) [Gene - OMIM - HGNC]
• TNKS:tankyrase [Gene - OMIM - HGNC]
• TDRP:testis development related protein [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]
• ZNF596:zinc finger protein 596 [Gene - 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:

8p23.3-22

Genomic location:

Chr8: 158048 - 13974319 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3

HGVS:

This HGVS expression did not pass validation