ClinVar

GRCh37/hg19 2q37.1(chr2:232215111-235593473)

Genes:

• ARL4C:ADP ribosylation factor like GTPase 4C [Gene - OMIM - HGNC]
• COPS7B:COP9 signalosome subunit 7B [Gene - OMIM - HGNC]
• DIS3L2:DIS3 like 3'-5' exoribonuclease 2 [Gene - OMIM - HGNC]
• DNAJB3:DnaJ heat shock protein family (Hsp40) member B3 [Gene - HGNC]
• EFHD1:EF-hand domain family member D1 [Gene - OMIM - HGNC]
• GIGYF2:GRB10 interacting GYF protein 2 [Gene - OMIM - HGNC]
• HJURP:Holliday junction recognition protein [Gene - OMIM - HGNC]
• SAG:S-antigen visual arrestin [Gene - OMIM - HGNC]
• UGT1A10:UDP glucuronosyltransferase family 1 member A10 [Gene - OMIM - HGNC]
• UGT1A1:UDP glucuronosyltransferase family 1 member A1 [Gene - OMIM - HGNC]
• UGT1A3:UDP glucuronosyltransferase family 1 member A3 [Gene - OMIM - HGNC]
• UGT1A4:UDP glucuronosyltransferase family 1 member A4 [Gene - OMIM - HGNC]
• UGT1A5:UDP glucuronosyltransferase family 1 member A5 [Gene - OMIM - HGNC]
• UGT1A6:UDP glucuronosyltransferase family 1 member A6 [Gene - OMIM - HGNC]
• UGT1A7:UDP glucuronosyltransferase family 1 member A7 [Gene - OMIM - HGNC]
• UGT1A8:UDP glucuronosyltransferase family 1 member A8 [Gene - OMIM - HGNC]
• UGT1A9:UDP glucuronosyltransferase family 1 member A9 [Gene - OMIM - HGNC]
• B3GNT7:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 [Gene - OMIM - HGNC]
• ALPG:alkaline phosphatase, germ cell [Gene - OMIM - HGNC]
• ALPI:alkaline phosphatase, intestinal [Gene - OMIM - HGNC]
• ALPP:alkaline phosphatase, placental [Gene - OMIM - HGNC]
• ARMC9:armadillo repeat containing 9 [Gene - OMIM - HGNC]
• ATG16L1:autophagy related 16 like 1 [Gene - OMIM - HGNC]
• CHRND:cholinergic receptor nicotinic delta subunit [Gene - OMIM - HGNC]
• CHRNG:cholinergic receptor nicotinic gamma subunit [Gene - OMIM - HGNC]
• DGKD:diacylglycerol kinase delta [Gene - OMIM - HGNC]
• ECEL1:endothelin converting enzyme like 1 [Gene - OMIM - HGNC]
• EIF4E2:eukaryotic translation initiation factor 4E family member 2 [Gene - OMIM - HGNC]
• MROH2A:maestro heat like repeat family member 2A [Gene - HGNC]
• NPPC:natriuretic peptide C [Gene - OMIM - HGNC]
• NEU2:neuraminidase 2 [Gene - OMIM - HGNC]
• NMUR1:neuromedin U receptor 1 [Gene - OMIM - HGNC]
• NGEF:neuronal guanine nucleotide exchange factor [Gene - OMIM - HGNC]
• NCL:nucleolin [Gene - OMIM - HGNC]
• PDE6D:phosphodiesterase 6D [Gene - OMIM - HGNC]
• KCNJ13:potassium inwardly rectifying channel subfamily J member 13 [Gene - OMIM - HGNC]
• PTMA:prothymosin alpha [Gene - OMIM - HGNC]
• SNORC:secondary ossification center associated regulator of chondrocyte maturation [Gene - HGNC]
• SPP2:secreted phosphoprotein 2 [Gene - OMIM - HGNC]
• PRSS56:serine protease 56 [Gene - OMIM - HGNC]
• SNORD20:small nucleolar RNA, C/D box 20 [Gene - OMIM - HGNC]
• SNORD82:small nucleolar RNA, C/D box 82 [Gene - OMIM - HGNC]
• TEX44:testis expressed 44 [Gene - HGNC]
• TIGD1:tigger transposable element derived 1 [Gene - OMIM - HGNC]
• TRPM8:transient receptor potential cation channel subfamily M member 8 [Gene - OMIM - HGNC]
• USP40:ubiquitin specific peptidase 40 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

2q37.1

Genomic location:

Chr2: 232215111 - 235593473 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 2q37.1(chr2:232215111-235593473)

HGVS:

NC_000002.11:g.(?_232215111)_(235593473_?)del

This HGVS expression did not pass validation

Observations:

1