ClinVar

GRCh37/hg19 20q13.33(chr20:62002369-62915555)x1

Genes:

• ARFRP1:ADP ribosylation factor related protein 1 [Gene - OMIM - HGNC]
• DNAJC5:DnaJ heat shock protein family (Hsp40) member C5 [Gene - OMIM - HGNC]
• LKAAEAR1:LKAAEAR motif containing 1 [Gene - HGNC]
• LIME1:Lck interacting transmembrane adaptor 1 [Gene - OMIM - HGNC]
• SLC2A4RG:SLC2A4 regulator [Gene - OMIM - HGNC]
• SOX18:SRY-box transcription factor 18 [Gene - OMIM - HGNC]
• TNFRSF6B:TNF receptor superfamily member 6b [Gene - OMIM - HGNC]
• TPD52L2:TPD52 like 2 [Gene - OMIM - HGNC]
• ABHD16B:abhydrolase domain containing 16B [Gene - HGNC]
• EEF1A2:eukaryotic translation elongation factor 1 alpha 2 [Gene - OMIM - HGNC]
• FNDC11:fibronectin type III domain containing 11 [Gene - HGNC]
• GMEB2:glucocorticoid modulatory element binding protein 2 [Gene - OMIM - HGNC]
• HELZ2:helicase with zinc finger 2 [Gene - OMIM - HGNC]
• MYT1:myelin transcription factor 1 [Gene - OMIM - HGNC]
• NPBWR2:neuropeptides B and W receptor 2 [Gene - OMIM - HGNC]
• OPRL1:opioid related nociceptin receptor 1 [Gene - OMIM - HGNC]
• PPDPF:pancreatic progenitor cell differentiation and proliferation factor [Gene - HGNC]
• KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]
• PRPF6:pre-mRNA processing factor 6 [Gene - OMIM - HGNC]
• PTK6:protein tyrosine kinase 6 [Gene - OMIM - HGNC]
• PCMTD2:protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 [Gene - HGNC]
• RGS19:regulator of G protein signaling 19 [Gene - OMIM - HGNC]
• RTEL1:regulator of telomere elongation helicase 1 [Gene - OMIM - HGNC]
• SRMS:src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites [Gene - OMIM - HGNC]
• STMN3:stathmin 3 [Gene - OMIM - HGNC]
• SAMD10:sterile alpha motif domain containing 10 [Gene - HGNC]
• TCEA2:transcription elongation factor A2 [Gene - OMIM - HGNC]
• UCKL1:uridine-cytidine kinase 1 like 1 [Gene - OMIM - HGNC]
• ZGPAT:zinc finger CCCH-type and G-patch domain containing [Gene - OMIM - HGNC]
• ZBTB46:zinc finger and BTB domain containing 46 [Gene - OMIM - HGNC]
• ZNF512B:zinc finger protein 512B [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

20q13.33

Genomic location:

Chr20: 62002369 - 62915555 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 20q13.33(chr20:62002369-62915555)x1

HGVS:

NC_000020.10:g.(?_62002369)_(62915555_?)del

This HGVS expression did not pass validation