ClinVar

GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3

Genes:

• ARL4A:ADP ribosylation factor like GTPase 4A [Gene - OMIM - HGNC]
• ADAP1:ArfGAP with dual PH domains 1 [Gene - OMIM - HGNC]
• BRAT1:BRCA1 associated ATM activator 1 [Gene - OMIM - HGNC]
• CCZ1B:CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated [Gene - HGNC]
• CCZ1:CCZ1 homolog, vacuolar protein trafficking and biogenesis associated [Gene - HGNC]
• CRPPA:CDP-L-ribitol pyrophosphorylase A [Gene - OMIM - HGNC]
• ETV1:ETS variant transcription factor 1 [Gene - OMIM - HGNC]
• FBXL18:F-box and leucine rich repeat protein 18 [Gene - OMIM - HGNC]
• FAM20C:FAM20C golgi associated secretory pathway kinase [Gene - OMIM - HGNC]
• GNA12:G protein subunit alpha 12 [Gene - OMIM - HGNC]
• GPER1:G protein-coupled estrogen receptor 1 [Gene - OMIM - HGNC]
• GPR146:G protein-coupled receptor 146 [Gene - HGNC]
• GRID2IP:Grid2 interacting protein [Gene - OMIM - HGNC]
• IQCE:IQ motif containing E [Gene - OMIM - HGNC]
• KDELR2:KDEL endoplasmic reticulum protein retention receptor 2 [Gene - OMIM - HGNC]
• LFNG:LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
• MAFK:MAF bZIP transcription factor K [Gene - OMIM - HGNC]
• MICALL2:MICAL like 2 [Gene - HGNC]
• NDUFA4:NDUFA4 mitochondrial complex associated [Gene - OMIM - HGNC]
• PHF14:PHD finger protein 14 [Gene - HGNC]
• PMS2:PMS1 homolog 2, mismatch repair system component [Gene - OMIM - HGNC]
• RBAK:RB associated KRAB zinc finger [Gene - OMIM - HGNC]
• RBAK-RBAKDN:RBAK-RBAKDN readthrough [Gene - HGNC]
• RAC1:Rac family small GTPase 1 [Gene - OMIM - HGNC]
• RADIL:Rap associating with DIL domain [Gene - OMIM - HGNC]
• SUN1:Sad1 and UNC84 domain containing 1 [Gene - OMIM - HGNC]
• UNCX:UNC homeobox [Gene - HGNC]
• WIPI2:WD repeat domain, phosphoinositide interacting 2 [Gene - OMIM - HGNC]
• ACTB:actin beta [Gene - OMIM - HGNC]
• AP5Z1:adaptor related protein complex 5 subunit zeta 1 [Gene - OMIM - HGNC]
• AGMO:alkylglycerol monooxygenase [Gene - OMIM - HGNC]
• AIMP2:aminoacyl tRNA synthetase complex interacting multifunctional protein 2 [Gene - OMIM - HGNC]
• ANKMY2:ankyrin repeat and MYND domain containing 2 [Gene - HGNC]
• AGR2:anterior gradient 2, protein disulphide isomerase family member [Gene - OMIM - HGNC]
• AGR3:anterior gradient 3, protein disulphide isomerase family member [Gene - OMIM - HGNC]
• AMZ1:archaelysin family metallopeptidase 1 [Gene - OMIM - HGNC]
• AHR:aryl hydrocarbon receptor [Gene - OMIM - HGNC]
• BZW2:basic leucine zipper and W2 domains 2 [Gene - OMIM - HGNC]
• CHST12:carbohydrate sulfotransferase 12 [Gene - OMIM - HGNC]
• CARD11:caspase recruitment domain family member 11 [Gene - OMIM - HGNC]
• C7orf50:chromosome 7 open reading frame 50 [Gene - HGNC]
• COL28A1:collagen type XXVIII alpha 1 chain [Gene - OMIM - HGNC]
• C1GALT1:core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 [Gene - OMIM - HGNC]
• CYP2W1:cytochrome P450 family 2 subfamily W member 1 [Gene - OMIM - HGNC]
• COX19:cytochrome c oxidase assembly factor COX19 [Gene - OMIM - HGNC]
• CYTH3:cytohesin 3 [Gene - OMIM - HGNC]
• DGKB:diacylglycerol kinase beta [Gene - OMIM - HGNC]
• DAGLB:diacylglycerol lipase beta [Gene - OMIM - HGNC]
• DNAAF5:dynein axonemal assembly factor 5 [Gene - OMIM - HGNC]
• EIF2AK1:eukaryotic translation initiation factor 2 alpha kinase 1 [Gene - OMIM - HGNC]
• EIF3B:eukaryotic translation initiation factor 3 subunit B [Gene - OMIM - HGNC]
• ELFN1:extracellular leucine rich repeat and fibronectin type III domain containing 1 [Gene - OMIM - HGNC]
• FAM220A:family with sequence similarity 220 member A [Gene - OMIM - HGNC]
• FSCN1:fascin actin-bundling protein 1 [Gene - OMIM - HGNC]
• FOXK1:forkhead box K1 [Gene - OMIM - HGNC]
• GLCCI1:glucocorticoid induced 1 [Gene - OMIM - HGNC]
• GET4:guided entry of tail-anchored proteins factor 4 [Gene - OMIM - HGNC]
• INTS15:integrator complex subunit 15 [Gene - HGNC]
• INTS1:integrator complex subunit 1 [Gene - OMIM - HGNC]
• ICA1:islet cell autoantigen 1 [Gene - OMIM - HGNC]
• LRRC72:leucine rich repeat containing 72 [Gene - HGNC]
• MIOS:meiosis regulator for oocyte development [Gene - OMIM - HGNC]
• MEOX2:mesenchyme homeobox 2 [Gene - OMIM - HGNC]
• MRM2:mitochondrial rRNA methyltransferase 2 [Gene - OMIM - HGNC]
• MAD1L1:mitotic arrest deficient 1 like 1 [Gene - OMIM - HGNC]
• MMD2:monocyte to macrophage differentiation associated 2 [Gene - OMIM - HGNC]
• NXPH1:neurexophilin 1 [Gene - OMIM - HGNC]
• NUDT1:nudix hydrolase 1 [Gene - OMIM - HGNC]
• OCM:oncomodulin [Gene - OMIM - HGNC]
• PDGFA:platelet derived growth factor subunit A [Gene - OMIM - HGNC]
• PAPOLB:poly(A) polymerase beta [Gene - OMIM - HGNC]
• PSMG3:proteasome assembly chaperone 3 [Gene - OMIM - HGNC]
• PRKAR1B:protein kinase cAMP-dependent type I regulatory subunit beta [Gene - OMIM - HGNC]
• RSPH10B2:radial spoke head 10 homolog B2 [Gene - HGNC]
• RSPH10B:radial spoke head 10 homolog B [Gene - HGNC]
• RPA3:replication protein A3 [Gene - OMIM - HGNC]
• RNF216:ring finger protein 216 [Gene - OMIM - HGNC]
• SCIN:scinderin [Gene - OMIM - HGNC]
• SOSTDC1:sclerostin domain containing 1 [Gene - OMIM - HGNC]
• SDK1:sidekick cell adhesion molecule 1 [Gene - OMIM - HGNC]
• SLC29A4:solute carrier family 29 member 4 [Gene - OMIM - HGNC]
• SNX8:sorting nexin 8 [Gene - OMIM - HGNC]
• TSPAN13:tetraspanin 13 [Gene - OMIM - HGNC]
• THSD7A:thrombospondin type 1 domain containing 7A [Gene - OMIM - HGNC]
• TMEM106B:transmembrane protein 106B [Gene - OMIM - HGNC]
• TMEM184A:transmembrane protein 184A [Gene - HGNC]
• TNRC18:trinucleotide repeat containing 18 [Gene - HGNC]
• TTYH3:tweety family member 3 [Gene - OMIM - HGNC]
• USP42:ubiquitin specific peptidase 42 [Gene - HGNC]
• VWDE:von Willebrand factor D and EGF domains [Gene - HGNC]
• ZFAND2A:zinc finger AN1-type containing 2A [Gene - OMIM - HGNC]
• ZDHHC4:zinc finger DHHC-type palmitoyltransferase 4 [Gene - HGNC]
• ZNF12:zinc finger protein 12 [Gene - OMIM - HGNC]
• ZNF316:zinc finger protein 316 [Gene - HGNC]
• ZNF853:zinc finger protein 853 [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

7p22.3-21.1

Genomic location:

Chr7: 43360 - 17656861 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3

HGVS:

This HGVS expression did not pass validation

Links:

dbVar: nssv13651433; dbVar: nsv2778518

Observations:

1