ClinVar

GRCh37/hg19 8p23.1(chr8:8102723-11936107)x3

Genes:

• BLK:BLK proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
• GATA4:GATA binding protein 4 [Gene - OMIM - HGNC]
• PINX1:PIN2 (TERF1) interacting telomerase inhibitor 1 [Gene - OMIM - HGNC]
• RP1L1:RP1 like 1 [Gene - OMIM - HGNC]
• SOX7:SRY-box transcription factor 7 [Gene - OMIM - HGNC]
• XKR6:XK related 6 [Gene - HGNC]
• CTSB:cathepsin B [Gene - OMIM - HGNC]
• C8orf74:chromosome 8 open reading frame 74 [Gene - HGNC]
• CLDN23:claudin 23 [Gene - OMIM - HGNC]
• DEFB134:defensin beta 134 [Gene - HGNC]
• DEFB135:defensin beta 135 [Gene - HGNC]
• DEFB136:defensin beta 136 [Gene - HGNC]
• ERI1:exoribonuclease 1 [Gene - OMIM - HGNC]
• FAM167A:family with sequence similarity 167 member A [Gene - OMIM - HGNC]
• FDFT1:farnesyl-diphosphate farnesyltransferase 1 [Gene - OMIM - HGNC]
• MSRA:methionine sulfoxide reductase A [Gene - OMIM - HGNC]
• MIR124-1:microRNA 124-1 [Gene - OMIM - HGNC]
• MFHAS1:multifunctional ROCO family signaling regulator 1 [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]
• PRSS51:serine protease 51 [Gene - HGNC]
• PRSS55:serine protease 55 [Gene - OMIM - HGNC]
• SLC35G5:solute carrier family 35 member G5 [Gene - OMIM - HGNC]
• TNKS:tankyrase [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

8p23.1

Genomic location:

Chr8: 8102723 - 11936107 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 8p23.1(chr8:8102723-11936107)x3

HGVS:

This HGVS expression did not pass validation