ClinVar

GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1

Genes:

• XRN2:5'-3' exoribonuclease 2 [Gene - OMIM - HGNC]
• BANF2:BANF family member 2 [Gene - HGNC]
• BTBD3:BTB domain containing 3 [Gene - OMIM - HGNC]
• DTD1:D-aminoacyl-tRNA deacylase 1 [Gene - OMIM - HGNC]
• ESF1:ESF1 nucleolar pre-rRNA processing protein homolog [Gene - OMIM - HGNC]
• INSM1:INSM transcriptional repressor 1 [Gene - OMIM - HGNC]
• MKKS:MKKS centrosomal shuttling protein [Gene - OMIM - HGNC]
• NAA20:N-alpha-acetyltransferase 20, NatB catalytic subunit [Gene - OMIM - HGNC]
• NDUFAF5:NADH:ubiquinone oxidoreductase complex assembly factor 5 [Gene - OMIM - HGNC]
• NKX2-2:NK2 homeobox 2 [Gene - OMIM - HGNC]
• NKX2-4:NK2 homeobox 4 [Gene - OMIM - HGNC]
• PET117:PET117 cytochrome c oxidase chaperone [Gene - OMIM - HGNC]
• RBBP9:RB binding protein 9, serine hydrolase [Gene - OMIM - HGNC]
• POLR3F:RNA polymerase III subunit F [Gene - OMIM - HGNC]
• RALGAPA2:Ral GTPase activating protein catalytic subunit alpha 2 [Gene - OMIM - HGNC]
• RIN2:Ras and Rab interactor 2 [Gene - OMIM - HGNC]
• SCP2D1:SCP2 sterol binding domain containing 1 [Gene - HGNC]
• SCP2D1-AS1:SCP2D1 antisense RNA 1 [Gene - HGNC]
• SEC23B:SEC23 homolog B, COPII coat complex component [Gene - OMIM - HGNC]
• SEL1L2:SEL1L2 adaptor subunit of SYVN1 ubiquitin ligase [Gene - OMIM - HGNC]
• SLX4IP:SLX4 interacting protein [Gene - OMIM - HGNC]
• ANKEF1:ankyrin repeat and EF-hand domain containing 1 [Gene - HGNC]
• BFSP1:beaded filament structural protein 1 [Gene - OMIM - HGNC]
• CFAP61:cilia and flagella associated protein 61 [Gene - OMIM - HGNC]
• CRNKL1:crooked neck pre-mRNA splicing factor 1 [Gene - OMIM - HGNC]
• DSTN:destrin, actin depolymerizing factor [Gene - OMIM - HGNC]
• DZANK1:double zinc ribbon and ankyrin repeat domains 1 [Gene - OMIM - HGNC]
• FLRT3:fibronectin leucine rich transmembrane protein 3 [Gene - OMIM - HGNC]
• ISM1:isthmin 1 [Gene - OMIM - HGNC]
• JAG1:jagged canonical Notch ligand 1 [Gene - OMIM - HGNC]
• KIF16B:kinesin family member 16B [Gene - OMIM - HGNC]
• KIZ:kizuna centrosomal protein [Gene - OMIM - HGNC]
• KAT14:lysine acetyltransferase 14 [Gene - OMIM - HGNC]
• LAMP5:lysosomal associated membrane protein family member 5 [Gene - OMIM - HGNC]
• MGME1:mitochondrial genome maintenance exonuclease 1 [Gene - OMIM - HGNC]
• MACROD2:mono-ADP ribosylhydrolase 2 [Gene - OMIM - HGNC]
• OTOR:otoraplin [Gene - OMIM - HGNC]
• OVOL2:ovo like zinc finger 2 [Gene - OMIM - HGNC]
• PAK5:p21 (RAC1) activated kinase 5 [Gene - OMIM - HGNC]
• PAX1:paired box 1 [Gene - OMIM - HGNC]
• PLCB1:phospholipase C beta 1 [Gene - OMIM - HGNC]
• PLCB4:phospholipase C beta 4 [Gene - OMIM - HGNC]
• PCSK2:proprotein convertase subtilisin/kexin type 2 [Gene - OMIM - HGNC]
• RRBP1:ribosome binding protein 1 [Gene - OMIM - HGNC]
• SPTLC3:serine palmitoyltransferase long chain base subunit 3 [Gene - OMIM - HGNC]
• SNRPB2:small nuclear ribonucleoprotein polypeptide B2 [Gene - OMIM - HGNC]
• SLC24A3:solute carrier family 24 member 3 [Gene - OMIM - HGNC]
• SNX5:sorting nexin 5 [Gene - OMIM - HGNC]
• SNAP25:synaptosome associated protein 25 [Gene - OMIM - HGNC]
• TASP1:taspase 1 [Gene - OMIM - HGNC]
• ZNF133:zinc finger protein 133 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

20p12.3-11.22

Genomic location:

Chr20: 8571696 - 22088650 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1

HGVS:

NC_000020.10:g.(?_8571696)_(22088650_?)del

This HGVS expression did not pass validation