ClinVar

GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1

Genes:

• ATP5ME:ATP synthase membrane subunit e [Gene - OMIM - HGNC]
• CTBP1:C-terminal binding protein 1 [Gene - OMIM - HGNC]
• C1QTNF7:C1q and TNF related 7 [Gene - HGNC]
• CD38:CD38 molecule [Gene - OMIM - HGNC]
• DCAF16:DDB1 and CUL4 associated factor 16 [Gene - OMIM - HGNC]
• POLN:DNA polymerase nu [Gene - OMIM - HGNC]
• EVC:EvC ciliary complex subunit 1 [Gene - OMIM - HGNC]
• EVC2:EvC ciliary complex subunit 2 [Gene - OMIM - HGNC]
• FBXL5:F-box and leucine rich repeat protein 5 [Gene - OMIM - HGNC]
• GPR78:G protein-coupled receptor 78 [Gene - OMIM - HGNC]
• GRK4:G protein-coupled receptor kinase 4 [Gene - OMIM - HGNC]
• GRPEL1:GrpE like 1, mitochondrial [Gene - OMIM - HGNC]
• HMX1:H6 family homeobox 1 [Gene - OMIM - HGNC]
• HAUS3:HAUS augmin like complex subunit 3 [Gene - OMIM - HGNC]
• HGFAC:HGF activator [Gene - OMIM - HGNC]
• HTRA3:HtrA serine peptidase 3 [Gene - OMIM - HGNC]
• KIAA0232:KIAA0232 [Gene - OMIM - HGNC]
• LRPAP1:LDL receptor related protein associated protein 1 [Gene - OMIM - HGNC]
• LDB2:LIM domain binding 2 [Gene - OMIM - HGNC]
• LYAR:Ly1 antibody reactive [Gene - OMIM - HGNC]
• MXD4:MAX dimerization protein 4 [Gene - OMIM - HGNC]
• MRFAP1L1:Morf4 family associated protein 1 like 1 [Gene - HGNC]
• MRFAP1:Morf4 family associated protein 1 [Gene - OMIM - HGNC]
• MSANTD1:Myb/SANT DNA binding domain containing 1 [Gene - HGNC]
• NAT8L:N-acetyltransferase 8 like [Gene - OMIM - HGNC]
• NICOL1:NELL2 interacting cell ontogeny regulator 1 [Gene - OMIM - HGNC]
• NKX1-1:NK1 homeobox 1 [Gene - OMIM - HGNC]
• NKX3-2:NK3 homeobox 2 [Gene - OMIM - HGNC]
• NOP14:NOP14 nucleolar protein [Gene - OMIM - HGNC]
• RAB28:RAB28, member RAS oncogene family [Gene - OMIM - HGNC]
• S100P:S100 calcium binding protein P [Gene - OMIM - HGNC]
• SH3TC1:SH3 domain and tetratricopeptide repeats 1 [Gene - HGNC]
• SH3BP2:SH3 domain binding protein 2 [Gene - OMIM - HGNC]
• TBC1D14:TBC1 domain family member 14 [Gene - OMIM - HGNC]
• TNIP2:TNFAIP3 interacting protein 2 [Gene - OMIM - HGNC]
• UVSSA:UV stimulated scaffold protein A [Gene - OMIM - HGNC]
• WDR1:WD repeat domain 1 [Gene - OMIM - HGNC]
• ABLIM2:actin binding LIM protein family member 2 [Gene - OMIM - HGNC]
• AFAP1:actin filament associated protein 1 [Gene - OMIM - HGNC]
• ACOX3:acyl-CoA oxidase 3, pristanoyl [Gene - OMIM - HGNC]
• ADD1:adducin 1 [Gene - OMIM - HGNC]
• ADRA2C:adrenoceptor alpha 2C [Gene - OMIM - HGNC]
• IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]
• BLOC1S4:biogenesis of lysosomal organelles complex 1 subunit 4 [Gene - OMIM - HGNC]
• BOD1L1:biorientation of chromosomes in cell division 1 like 1 [Gene - OMIM - HGNC]
• BST1:bone marrow stromal cell antigen 1 [Gene - OMIM - HGNC]
• CPZ:carboxypeptidase Z [Gene - OMIM - HGNC]
• C4orf50:chromosome 4 open reading frame 50 [Gene - HGNC]
• CFAP184:cilia and flagella associated protein 184 [Gene - OMIM - HGNC]
• CLRN2:clarin 2 [Gene - OMIM - HGNC]
• CC2D2A:coiled-coil and C2 domain containing 2A [Gene - OMIM - HGNC]
• CRMP1:collapsin response mediator protein 1 [Gene - OMIM - HGNC]
• CPLX1:complexin 1 [Gene - OMIM - HGNC]
• GAK:cyclin G associated kinase [Gene - OMIM - HGNC]
• CRIPAK:cysteine rich PAK1 inhibitor [Gene - OMIM - HGNC]
• CLNK:cytokine dependent hematopoietic cell linker [Gene - OMIM - HGNC]
• CYTL1:cytokine like 1 [Gene - OMIM - HGNC]
• CPEB2:cytoplasmic polyadenylation element binding protein 2 [Gene - OMIM - HGNC]
• DEFB131A:defensin beta 131A [Gene - HGNC]
• DGKQ:diacylglycerol kinase theta [Gene - OMIM - HGNC]
• DOK7:docking protein 7 [Gene - OMIM - HGNC]
• DRD5:dopamine receptor D5 [Gene - OMIM - HGNC]
• FAM184B:family with sequence similarity 184 member B [Gene - OMIM - HGNC]
• FAM193A:family with sequence similarity 193 member A [Gene - OMIM - HGNC]
• FAM200B:family with sequence similarity 200 member B [Gene - HGNC]
• FAM53A:family with sequence similarity 53 member A [Gene - OMIM - HGNC]
• FGFBP1:fibroblast growth factor binding protein 1 [Gene - OMIM - HGNC]
• FGFBP2:fibroblast growth factor binding protein 2 [Gene - OMIM - HGNC]
• FGFR3:fibroblast growth factor receptor 3 [Gene - OMIM - HGNC]
• FGFRL1:fibroblast growth factor receptor like 1 [Gene - OMIM - HGNC]
• HS3ST1:heparan sulfate-glucosamine 3-sulfotransferase 1 [Gene - OMIM - HGNC]
• HTT:huntingtin [Gene - OMIM - HGNC]
• JAKMIP1:janus kinase and microtubule interacting protein 1 [Gene - OMIM - HGNC]
• LAP3:leucine aminopeptidase 3 [Gene - OMIM - HGNC]
• LETM1:leucine zipper and EF-hand containing transmembrane protein 1 [Gene - OMIM - HGNC]
• LCORL:ligand dependent nuclear receptor corepressor like [Gene - OMIM - HGNC]
• LINC01587:long intergenic non-protein coding RNA 1587 [Gene - HGNC]
• MAEA:macrophage erythroblast attacher, E3 ubiquitin ligase [Gene - OMIM - HGNC]
• MFSD10:major facilitator superfamily domain containing 10 [Gene - OMIM - HGNC]
• MAN2B2:mannosidase alpha class 2B member 2 [Gene - OMIM - HGNC]
• MED28:mediator complex subunit 28 [Gene - OMIM - HGNC]
• MIR95:microRNA 95 [Gene - OMIM - HGNC]
• MSX1:msh homeobox 1 [Gene - OMIM - HGNC]
• MYL5:myosin light chain 5 [Gene - OMIM - HGNC]
• NELFA:negative elongation factor complex member A [Gene - OMIM - HGNC]
• NSG1:neuronal vesicle trafficking associated 1 [Gene - OMIM - HGNC]
• NCAPG:non-SMC condensin I complex subunit G [Gene - OMIM - HGNC]
• NSD2:nuclear receptor binding SET domain protein 2 [Gene - OMIM - HGNC]
• OTOP1:otopetrin 1 [Gene - OMIM - HGNC]
• PIGG:phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) [Gene - OMIM - HGNC]
• PDE6B:phosphodiesterase 6B [Gene - OMIM - HGNC]
• PCGF3:polycomb group ring finger 3 [Gene - OMIM - HGNC]
• PROM1:prominin 1 [Gene - OMIM - HGNC]
• PSAPL1:prosaposin like 1 [Gene - HGNC]
• PPP2R2C:protein phosphatase 2 regulatory subunit Bgamma [Gene - OMIM - HGNC]
• QDPR:quinoid dihydropteridine reductase [Gene - OMIM - HGNC]
• RGS12:regulator of G protein signaling 12 [Gene - OMIM - HGNC]
• RNF212:ring finger protein 212 [Gene - OMIM - HGNC]
• RNF4:ring finger protein 4 [Gene - OMIM - HGNC]
• STK32B:serine/threonine kinase 32B [Gene - HGNC]
• SLC2A9:solute carrier family 2 member 9 [Gene - OMIM - HGNC]
• SLC26A1:solute carrier family 26 member 1 [Gene - OMIM - HGNC]
• SLC49A3:solute carrier family 49 member 3 [Gene - OMIM - HGNC]
• SORCS2:sortilin related VPS10 domain containing receptor 2 [Gene - OMIM - HGNC]
• SPON2:spondin 2 [Gene - OMIM - HGNC]
• SLBP:stem-loop histone mRNA binding protein [Gene - OMIM - HGNC]
• STX18:syntaxin 18 [Gene - OMIM - HGNC]
• TRMT44:tRNA methyltransferase 44 homolog [Gene - OMIM - HGNC]
• TADA2B:transcriptional adaptor 2B [Gene - OMIM - HGNC]
• TACC3:transforming acidic coiled-coil containing protein 3 [Gene - OMIM - HGNC]
• TAPT1:transmembrane anterior posterior transformation 1 [Gene - OMIM - HGNC]
• TMEM128:transmembrane protein 128 [Gene - HGNC]
• TMEM129:transmembrane protein 129, E3 ubiquitin ligase [Gene - OMIM - HGNC]
• TMEM175:transmembrane protein 175 [Gene - OMIM - HGNC]
• USP17L10:ubiquitin specific peptidase 17 like family member 10 [Gene - HGNC]
• USP17L11:ubiquitin specific peptidase 17 like family member 11 [Gene - HGNC]
• USP17L12:ubiquitin specific peptidase 17 like family member 12 [Gene - HGNC]
• USP17L13:ubiquitin specific peptidase 17 like family member 13 [Gene - HGNC]
• USP17L15:ubiquitin specific peptidase 17 like family member 15 [Gene - HGNC]
• USP17L17:ubiquitin specific peptidase 17 like family member 17 [Gene - HGNC]
• USP17L18:ubiquitin specific peptidase 17 like family member 18 [Gene - HGNC]
• USP17L19:ubiquitin specific peptidase 17 like family member 19 [Gene - HGNC]
• USP17L20:ubiquitin specific peptidase 17 like family member 20 [Gene - HGNC]
• USP17L21:ubiquitin specific peptidase 17 like family member 21 [Gene - HGNC]
• USP17L22:ubiquitin specific peptidase 17 like family member 22 [Gene - HGNC]
• USP17L24:ubiquitin specific peptidase 17 like family member 24 [Gene - HGNC]
• USP17L25:ubiquitin specific peptidase 17 like family member 25 [Gene - HGNC]
• USP17L26:ubiquitin specific peptidase 17 like family member 26 [Gene - HGNC]
• USP17L27:ubiquitin specific peptidase 17 like family member 27 [Gene - HGNC]
• USP17L28:ubiquitin specific peptidase 17 like family member 28 [Gene - HGNC]
• USP17L29:ubiquitin specific peptidase 17 like family member 29 [Gene - HGNC]
• USP17L30:ubiquitin specific peptidase 17 like family member 30 [Gene - HGNC]
• USP17L5:ubiquitin specific peptidase 17 like family member 5 [Gene - HGNC]
• WFS1:wolframin ER transmembrane glycoprotein [Gene - OMIM - HGNC]
• ZFYVE28:zinc finger FYVE-type containing 28 [Gene - OMIM - HGNC]
• ZBTB49:zinc finger and BTB domain containing 49 [Gene - OMIM - HGNC]
• ZNF141:zinc finger protein 141 [Gene - OMIM - HGNC]
• ZNF518B:zinc finger protein 518B [Gene - OMIM - HGNC]
• ZNF595:zinc finger protein 595 [Gene - HGNC]
• ZNF718:zinc finger protein 718 [Gene - HGNC]
• ZNF721:zinc finger protein 721 [Gene - HGNC]
• ZNF732:zinc finger protein 732 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

4p16.3-15.31

Genomic location:

Chr4: 68345 - 19103550 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1

HGVS:

This HGVS expression did not pass validation

Observations:

1