ClinVar

GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3

Genes:

• ABCG1:ATP binding cassette subfamily G member 1 [Gene - OMIM - HGNC]
• C2CD2:C2 calcium dependent domain containing 2 [Gene - OMIM - HGNC]
• DSCAM:DS cell adhesion molecule [Gene - OMIM - HGNC]
• ETS2:ETS proto-oncogene 2, transcription factor [Gene - OMIM - HGNC]
• ERG:ETS transcription factor ERG [Gene - OMIM - HGNC]
• FAM3B:FAM3 metabolism regulating signaling molecule B [Gene - OMIM - HGNC]
• MX1:MX dynamin like GTPase 1 [Gene - OMIM - HGNC]
• MX2:MX dynamin like GTPase 2 [Gene - OMIM - HGNC]
• NDUFV3:NADH:ubiquinone oxidoreductase subunit V3 [Gene - OMIM - HGNC]
• PKNOX1:PBX/knotted 1 homeobox 1 [Gene - OMIM - HGNC]
• PRDM15:PR/SET domain 15 [Gene - OMIM - HGNC]
• PCP4:Purkinje cell protein 4 [Gene - OMIM - HGNC]
• SH3BGR:SH3 domain binding glutamate rich protein [Gene - OMIM - HGNC]
• U2AF1:U2 small nuclear RNA auxiliary factor 1 [Gene - OMIM - HGNC]
• WDR4:WD repeat domain 4 [Gene - OMIM - HGNC]
• B3GALT5:beta-1,3-galactosyltransferase 5 [Gene - OMIM - HGNC]
• BACE2:beta-secretase 2 [Gene - OMIM - HGNC]
• BRWD1:bromodomain and WD repeat domain containing 1 [Gene - OMIM - HGNC]
• CRYAA:crystallin alpha A [Gene - OMIM - HGNC]
• CBS:cystathionine beta-synthase [Gene - OMIM - HGNC]
• GET1:guided entry of tail-anchored proteins factor 1 [Gene - OMIM - HGNC]
• HMGN1:high mobility group nucleosome binding domain 1 [Gene - OMIM - HGNC]
• IGSF5:immunoglobulin superfamily member 5 [Gene - OMIM - HGNC]
• LCA5L:lebercilin LCA5 like [Gene - HGNC]
• LINC00114:long intergenic non-protein coding RNA 114 [Gene - OMIM - HGNC]
• PDE9A:phosphodiesterase 9A [Gene - OMIM - HGNC]
• PLAC4:placenta enriched 4 [Gene - OMIM - HGNC]
• PSMG1:proteasome assembly chaperone 1 [Gene - OMIM - HGNC]
• RSPH1:radial spoke head component 1 [Gene - OMIM - HGNC]
• RIPK4:receptor interacting serine/threonine kinase 4 [Gene - OMIM - HGNC]
• SLC37A1:solute carrier family 37 member 1 [Gene - OMIM - HGNC]
• TMPRSS2:transmembrane serine protease 2 [Gene - OMIM - HGNC]
• TMPRSS3:transmembrane serine protease 3 [Gene - OMIM - HGNC]
• TFF1:trefoil factor 1 [Gene - OMIM - HGNC]
• TFF2:trefoil factor 2 [Gene - OMIM - HGNC]
• TFF3:trefoil factor 3 [Gene - OMIM - HGNC]
• UBASH3A:ubiquitin associated and SH3 domain containing A [Gene - OMIM - HGNC]
• UMODL1:uromodulin like 1 [Gene - OMIM - HGNC]
• ZBTB21:zinc finger and BTB domain containing 21 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

21q22.2-22.3

Genomic location:

Chr21: 39841248 - 44652723 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3

HGVS:

This HGVS expression did not pass validation