ClinVar

GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1

Genes:

• HPGD:15-hydroxyprostaglandin dehydrogenase [Gene - OMIM - HGNC]
• ADAM29:ADAM metallopeptidase domain 29 [Gene - OMIM - HGNC]
• CDKN2AIP:CDKN2A interacting protein [Gene - OMIM - HGNC]
• DDX60L:DExD/H-box 60 like [Gene - OMIM - HGNC]
• DDX60:DExD/H-box helicase 60 [Gene - OMIM - HGNC]
• FBXO8:F-box protein 8 [Gene - OMIM - HGNC]
• FAT1:FAT atypical cadherin 1 [Gene - OMIM - HGNC]
• FRG1:FSHD region gene 1 [Gene - OMIM - HGNC]
• FRG2:FSHD region gene 2 [Gene - OMIM - HGNC]
• LRP2BP:LRP2 binding protein [Gene - OMIM - HGNC]
• NEK1:NIMA related kinase 1 [Gene - OMIM - HGNC]
• PDLIM3:PDZ and LIM domain 3 [Gene - OMIM - HGNC]
• RWDD4:RWD domain containing 4 [Gene - HGNC]
• SH3RF1:SH3 domain containing ring finger 1 [Gene - OMIM - HGNC]
• SPOCK3:SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3 [Gene - OMIM - HGNC]
• SAP30:Sin3A associated protein 30 [Gene - OMIM - HGNC]
• UFSP2:UFM1 specific peptidase 2 [Gene - OMIM - HGNC]
• WDR17:WD repeat domain 17 [Gene - OMIM - HGNC]
• WWC2:WW and C2 domain containing 2 [Gene - OMIM - HGNC]
• ZFP42:ZFP42 zinc finger protein [Gene - OMIM - HGNC]
• ACSL1:acyl-CoA synthetase long chain family member 1 [Gene - OMIM - HGNC]
• AADAT:aminoadipate aminotransferase [Gene - OMIM - HGNC]
• ASB5:ankyrin repeat and SOCS box containing 5 [Gene - OMIM - HGNC]
• ANKRD37:ankyrin repeat domain 37 [Gene - OMIM - HGNC]
• ANXA10:annexin A10 [Gene - OMIM - HGNC]
• AGA:aspartylglucosaminidase [Gene - OMIM - HGNC]
• CBR4:carbonyl reductase 4 [Gene - OMIM - HGNC]
• CASP3:caspase 3 [Gene - OMIM - HGNC]
• CENPU:centromere protein U [Gene - OMIM - HGNC]
• CEP44:centrosomal protein 44 [Gene - OMIM - HGNC]
• CLCN3:chloride voltage-gated channel 3 [Gene - OMIM - HGNC]
• CFAP96:cilia and flagella associated protein 96 [Gene - HGNC]
• CFAP97:cilia and flagella associated protein 97 [Gene - OMIM - HGNC]
• CLDN22:claudin 22 [Gene - OMIM - HGNC]
• CLDN24:claudin 24 [Gene - HGNC]
• F11:coagulation factor XI [Gene - OMIM - HGNC]
• CCDC110:coiled-coil domain containing 110 [Gene - OMIM - HGNC]
• CYP4V2:cytochrome P450 family 4 subfamily V member 2 [Gene - OMIM - HGNC]
• DCTD:dCMP deaminase [Gene - OMIM - HGNC]
• ENPP6:ectonucleotide pyrophosphatase/phosphodiesterase 6 [Gene - OMIM - HGNC]
• FAM149A:family with sequence similarity 149 member A [Gene - HGNC]
• GLRA3:glycine receptor alpha 3 [Gene - OMIM - HGNC]
• GPM6A:glycoprotein M6A [Gene - OMIM - HGNC]
• HAND2:heart and neural crest derivatives expressed 2 [Gene - OMIM - HGNC]
• HELT:helt bHLH transcription factor [Gene - OMIM - HGNC]
• HMGB2:high mobility group box 2 [Gene - OMIM - HGNC]
• HPF1:histone PARylation factor 1 [Gene - OMIM - HGNC]
• ING2:inhibitor of growth family member 2 [Gene - OMIM - HGNC]
• IRF2:interferon regulatory factor 2 [Gene - OMIM - HGNC]
• KLKB1:kallikrein B1 [Gene - OMIM - HGNC]
• MTNR1A:melatonin receptor 1A [Gene - OMIM - HGNC]
• MFAP3L:microfibril associated protein 3 like [Gene - OMIM - HGNC]
• NEIL3:nei like DNA glycosylase 3 [Gene - OMIM - HGNC]
• PALLD:palladin, cytoskeletal associated protein [Gene - OMIM - HGNC]
• GALNT7:polypeptide N-acetylgalactosaminyltransferase 7 [Gene - OMIM - HGNC]
• GALNTL6:polypeptide N-acetylgalactosaminyltransferase like 6 [Gene - OMIM - HGNC]
• PRIMPOL:primase and DNA directed polymerase [Gene - OMIM - HGNC]
• SPCS3:signal peptidase complex subunit 3 [Gene - OMIM - HGNC]
• SLC25A4:solute carrier family 25 member 4 [Gene - OMIM - HGNC]
• SORBS2:sorbin and SH3 domain containing 2 [Gene - OMIM - HGNC]
• SNX25:sorting nexin 25 [Gene - HGNC]
• SPATA4:spermatogenesis associated 4 [Gene - OMIM - HGNC]
• SCRG1:stimulator of chondrogenesis 1 [Gene - OMIM - HGNC]
• STOX2:storkhead box 2 [Gene - OMIM - HGNC]
• TENM3:teneurin transmembrane protein 3 [Gene - OMIM - HGNC]
• TLR3:toll like receptor 3 [Gene - OMIM - HGNC]
• TLL1:tolloid like 1 [Gene - OMIM - HGNC]
• TRAPPC11:trafficking protein particle complex subunit 11 [Gene - OMIM - HGNC]
• TRIML1:tripartite motif family like 1 [Gene - HGNC]
• TRIML2:tripartite motif family like 2 [Gene - OMIM - HGNC]
• LOC101928198:uncharacterized LOC101928198 [Gene]
• VEGFC:vascular endothelial growth factor C [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

4q32.3-35.2

Genomic location:

Chr4: 166623890 - 190957473 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1

HGVS:

NC_000004.11:g.(?_166623890)_(190957473_?)del

This HGVS expression did not pass validation