ClinVar

GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1

Genes:

• ATP5ME:ATP synthase membrane subunit e [Gene - OMIM - HGNC]
• CTBP1:C-terminal binding protein 1 [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]
• GRK4:G protein-coupled receptor kinase 4 [Gene - OMIM - HGNC]
• GRPEL1:GrpE like 1, mitochondrial [Gene - OMIM - HGNC]
• HAUS3:HAUS augmin like complex subunit 3 [Gene - OMIM - HGNC]
• HGFAC:HGF activator [Gene - OMIM - HGNC]
• KIAA0232:KIAA0232 [Gene - OMIM - HGNC]
• LRPAP1:LDL receptor related protein associated protein 1 [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]
• NOP14:NOP14 nucleolar protein [Gene - OMIM - HGNC]
• S100P:S100 calcium binding protein P [Gene - OMIM - 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]
• AFAP1:actin filament associated protein 1 [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]
• C4orf50:chromosome 4 open reading frame 50 [Gene - HGNC]
• CFAP184:cilia and flagella associated protein 184 [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]
• CYTL1:cytokine like 1 [Gene - OMIM - HGNC]
• DGKQ:diacylglycerol kinase theta [Gene - OMIM - HGNC]
• DOK7:docking protein 7 [Gene - OMIM - HGNC]
• FAM193A:family with sequence similarity 193 member A [Gene - OMIM - HGNC]
• FAM53A:family with sequence similarity 53 member A [Gene - OMIM - HGNC]
• FGFR3:fibroblast growth factor receptor 3 [Gene - OMIM - HGNC]
• FGFRL1:fibroblast growth factor receptor like 1 [Gene - OMIM - HGNC]
• HTT:huntingtin [Gene - OMIM - HGNC]
• JAKMIP1:janus kinase and microtubule interacting protein 1 [Gene - OMIM - HGNC]
• LETM1:leucine zipper and EF-hand containing transmembrane protein 1 [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]
• 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]
• 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]
• PSAPL1:prosaposin like 1 [Gene - HGNC]
• PPP2R2C:protein phosphatase 2 regulatory subunit Bgamma [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]
• 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]
• TADA2B:transcriptional adaptor 2B [Gene - OMIM - HGNC]
• TACC3:transforming acidic coiled-coil containing protein 3 [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]
• 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]
• 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:

4p16.3-16.1

Genomic location:

Chr4: 68345 - 7923907 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1

HGVS:

This HGVS expression did not pass validation

Observations:

1