ClinVar

GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3

Genes:

• OPLAH:5-oxoprolinase, ATP-hydrolysing [Gene - OMIM - HGNC]
• BOP1:BOP1 ribosomal biogenesis factor [Gene - OMIM - HGNC]
• TOP1MT:DNA topoisomerase I mitochondrial [Gene - OMIM - HGNC]
• FBXL6:F-box and leucine rich repeat protein 6 [Gene - OMIM - HGNC]
• GFUS:GDP-L-fucose synthase [Gene - OMIM - HGNC]
• GLI4:GLI family zinc finger 4 [Gene - OMIM - HGNC]
• HGH1:HGH1 homolog [Gene - OMIM - HGNC]
• LY6S-AS1:LY6S antisense RNA 1 [Gene - HGNC]
• MAFA:MAF bZIP transcription factor A [Gene - OMIM - HGNC]
• MAF1:MAF1 homolog, negative regulator of RNA polymerase III [Gene - OMIM - HGNC]
• RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]
• ARHGAP39:Rho GTPase activating protein 39 [Gene - OMIM - HGNC]
• SHARPIN:SHANK associated RH domain interactor [Gene - OMIM - HGNC]
• VPS28:VPS28 subunit of ESCRT-I [Gene - OMIM - HGNC]
• ZFP41:ZFP41 zinc finger protein [Gene - HGNC]
• ADCK5:aarF domain containing kinase 5 [Gene - HGNC]
• C8orf82:chromosome 8 open reading frame 82 [Gene - HGNC]
• CPSF1:cleavage and polyadenylation specific factor 1 [Gene - OMIM - HGNC]
• CCDC166:coiled-coil domain containing 166 [Gene - HGNC]
• CYC1:cytochrome c1 [Gene - OMIM - HGNC]
• DGAT1:diacylglycerol O-acyltransferase 1 [Gene - OMIM - HGNC]
• EPPK1:epiplakin 1 [Gene - OMIM - HGNC]
• EEF1D:eukaryotic translation elongation factor 1 delta [Gene - OMIM - HGNC]
• EXOSC4:exosome component 4 [Gene - OMIM - HGNC]
• FAM83H:family with sequence similarity 83 member H [Gene - OMIM - HGNC]
• FOXH1:forkhead box H1 [Gene - OMIM - HGNC]
• GSDMD:gasdermin D [Gene - OMIM - HGNC]
• GRINA:glutamate ionotropic receptor NMDA type subunit associated protein 1 [Gene - OMIM - HGNC]
• GPT:glutamic--pyruvic transaminase [Gene - OMIM - HGNC]
• GPAA1:glycosylphosphatidylinositol anchor attachment 1 [Gene - OMIM - HGNC]
• GPIHBP1:glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 [Gene - OMIM - HGNC]
• HSF1:heat shock transcription factor 1 [Gene - OMIM - HGNC]
• KIFC2:kinesin family member C2 [Gene - OMIM - HGNC]
• LRRC14:leucine rich repeat containing 14 [Gene - OMIM - HGNC]
• LRRC24:leucine rich repeat containing 24 [Gene - OMIM - HGNC]
• LY6E:lymphocyte antigen 6 family member E [Gene - OMIM - HGNC]
• LY6H:lymphocyte antigen 6 family member H [Gene - OMIM - HGNC]
• MROH1:maestro heat like repeat family member 1 [Gene - HGNC]
• MROH6:maestro heat like repeat family member 6 [Gene - HGNC]
• MFSD3:major facilitator superfamily domain containing 3 [Gene - OMIM - HGNC]
• MIR1234:microRNA 1234 [Gene - HGNC]
• MIR661:microRNA 661 [Gene - OMIM - HGNC]
• MAPK15:mitogen-activated protein kinase 15 [Gene - OMIM - HGNC]
• NAPRT:nicotinate phosphoribosyltransferase [Gene - OMIM - HGNC]
• NRBP2:nuclear receptor binding protein 2 [Gene - OMIM - HGNC]
• PLEC:plectin [Gene - OMIM - HGNC]
• PARP10:poly(ADP-ribose) polymerase family member 10 [Gene - OMIM - HGNC]
• PUF60:poly(U) binding splicing factor 60 [Gene - OMIM - HGNC]
• PPP1R16A:protein phosphatase 1 regulatory subunit 16A [Gene - OMIM - HGNC]
• PYCR3:pyrroline-5-carboxylate reductase 3 [Gene - OMIM - HGNC]
• RHPN1:rhophilin Rho GTPase binding protein 1 [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]
• SLC39A4:solute carrier family 39 member 4 [Gene - OMIM - HGNC]
• SLC52A2:solute carrier family 52 member 2 [Gene - OMIM - HGNC]
• SPATC1:spermatogenesis and centriole associated 1 [Gene - OMIM - HGNC]
• TIGD5:tigger transposable element derived 5 [Gene - HGNC]
• TONSL:tonsoku like, DNA repair protein [Gene - OMIM - HGNC]
• TMEM249:transmembrane protein 249 [Gene - HGNC]
• ZC3H3:zinc finger CCCH-type containing 3 [Gene - OMIM - HGNC]
• ZFTRAF1:zinc finger TRAF-type containing 1 [Gene - OMIM - HGNC]
• ZNF623:zinc finger protein 623 [Gene - HGNC]
• ZNF696:zinc finger protein 696 [Gene - HGNC]
• ZNF707:zinc finger protein 707 [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

8q24.3

Genomic location:

Chr8: 144090414 - 145900544 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3

HGVS:

This HGVS expression did not pass validation

Observations:

1