ClinVar

GRCh37/hg19 4q35.1-35.2(chr4:183221828-190957473)

Genes:

• CDKN2AIP:CDKN2A interacting protein [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]
• PDLIM3:PDZ and LIM domain 3 [Gene - OMIM - HGNC]
• RWDD4:RWD domain containing 4 [Gene - HGNC]
• UFSP2:UFM1 specific peptidase 2 [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]
• ANKRD37:ankyrin repeat domain 37 [Gene - OMIM - HGNC]
• CASP3:caspase 3 [Gene - OMIM - HGNC]
• CENPU:centromere protein U [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 - 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]
• HELT:helt bHLH transcription factor [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]
• PRIMPOL:primase and DNA directed polymerase [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]
• STOX2:storkhead box 2 [Gene - OMIM - HGNC]
• TENM3:teneurin transmembrane protein 3 [Gene - OMIM - HGNC]
• TLR3:toll like receptor 3 [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]

Variant type:

copy number loss

Cytogenetic location:

4q35.1-35.2

Genomic location:

Chr4: 183221828 - 190957473 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 4q35.1-35.2(chr4:183221828-190957473)

HGVS:

NC_000004.11:g.(?_183221828)_(190957473_?)del

This HGVS expression did not pass validation

Observations:

1