ClinVar

GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1

Genes:

• AGPAT3:1-acylglycerol-3-phosphate O-acyltransferase 3 [Gene - OMIM - HGNC]
• ABCG1:ATP binding cassette subfamily G member 1 [Gene - OMIM - HGNC]
• C2CD2:C2 calcium dependent domain containing 2 [Gene - OMIM - HGNC]
• DNMT3L:DNA methyltransferase 3 like [Gene - OMIM - HGNC]
• DSCAM:DS cell adhesion molecule [Gene - OMIM - HGNC]
• DSCR4:Down syndrome critical region 4 [Gene - OMIM - HGNC]
• DSCR8:Down syndrome critical region 8 [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]
• PTTG1IP:PTTG1 interacting protein [Gene - OMIM - HGNC]
• PWP2:PWP2 small subunit processome component [Gene - OMIM - HGNC]
• PCP4:Purkinje cell protein 4 [Gene - OMIM - HGNC]
• S100B:S100 calcium binding protein B [Gene - OMIM - HGNC]
• SH3BGR:SH3 domain binding glutamate rich protein [Gene - OMIM - HGNC]
• SLX9:SLX9 ribosome biogenesis factor [Gene - HGNC]
• U2AF1:U2 small nuclear RNA auxiliary factor 1 [Gene - OMIM - HGNC]
• WDR4:WD repeat domain 4 [Gene - OMIM - HGNC]
• ADARB1:adenosine deaminase RNA specific B1 [Gene - OMIM - HGNC]
• AIRE:autoimmune regulator [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]
• C21orf58:chromosome 21 open reading frame 58 [Gene - HGNC]
• CFAP410:cilia and flagella associated protein 410 [Gene - OMIM - HGNC]
• COL6A1:collagen type VI alpha 1 chain [Gene - OMIM - HGNC]
• COL6A2:collagen type VI alpha 2 chain [Gene - OMIM - HGNC]
• COL18A1:collagen type XVIII alpha 1 chain [Gene - OMIM - HGNC]
• CRYAA:crystallin alpha A [Gene - OMIM - HGNC]
• CBS:cystathionine beta-synthase [Gene - OMIM - HGNC]
• CSTB:cystatin B [Gene - OMIM - HGNC]
• DIP2A:disco interacting protein 2 homolog A [Gene - OMIM - HGNC]
• DYRK1A:dual specificity tyrosine phosphorylation regulated kinase 1A [Gene - OMIM - HGNC]
• FTCD:formimidoyltransferase cyclodeaminase [Gene - OMIM - HGNC]
• GATD3:glutamine amidotransferase class 1 domain containing 3 [Gene - OMIM - HGNC]
• GET1:guided entry of tail-anchored proteins factor 1 [Gene - OMIM - HGNC]
• HSF2BP:heat shock transcription factor 2 binding protein [Gene - OMIM - HGNC]
• HMGN1:high mobility group nucleosome binding domain 1 [Gene - OMIM - HGNC]
• IGSF5:immunoglobulin superfamily member 5 [Gene - OMIM - HGNC]
• ICOSLG:inducible T cell costimulator ligand [Gene - OMIM - HGNC]
• ITGB2:integrin subunit beta 2 [Gene - OMIM - HGNC]
• KRTAP10-10:keratin associated protein 10-10 [Gene - HGNC]
• KRTAP10-11:keratin associated protein 10-11 [Gene - HGNC]
• KRTAP10-12:keratin associated protein 10-12 [Gene - HGNC]
• KRTAP10-1:keratin associated protein 10-1 [Gene - HGNC]
• KRTAP10-2:keratin associated protein 10-2 [Gene - HGNC]
• KRTAP10-3:keratin associated protein 10-3 [Gene - HGNC]
• KRTAP10-4:keratin associated protein 10-4 [Gene - HGNC]
• KRTAP10-5:keratin associated protein 10-5 [Gene - HGNC]
• KRTAP10-6:keratin associated protein 10-6 [Gene - HGNC]
• KRTAP10-7:keratin associated protein 10-7 [Gene - HGNC]
• KRTAP10-8:keratin associated protein 10-8 [Gene - HGNC]
• KRTAP10-9:keratin associated protein 10-9 [Gene - HGNC]
• KRTAP12-1:keratin associated protein 12-1 [Gene - HGNC]
• KRTAP12-2:keratin associated protein 12-2 [Gene - HGNC]
• KRTAP12-3:keratin associated protein 12-3 [Gene - HGNC]
• KRTAP12-4:keratin associated protein 12-4 [Gene - HGNC]
• LSS:lanosterol synthase [Gene - OMIM - HGNC]
• LCA5L:lebercilin LCA5 like [Gene - HGNC]
• LRRC3:leucine rich repeat containing 3 [Gene - OMIM - HGNC]
• LINC00114:long intergenic non-protein coding RNA 114 [Gene - OMIM - HGNC]
• LINC00163:long intergenic non-protein coding RNA 163 [Gene - OMIM - HGNC]
• LINC00315:long intergenic non-protein coding RNA 315 [Gene - HGNC]
• LINC00334:long intergenic non-protein coding RNA 334 [Gene - HGNC]
• MCM3AP:minichromosome maintenance complex component 3 associated protein [Gene - OMIM - HGNC]
• PCNT:pericentrin [Gene - OMIM - HGNC]
• PDE9A:phosphodiesterase 9A [Gene - OMIM - HGNC]
• PFKL:phosphofructokinase, liver type [Gene - OMIM - HGNC]
• PLAC4:placenta enriched 4 [Gene - OMIM - HGNC]
• PCBP3:poly(rC) binding protein 3 [Gene - OMIM - HGNC]
• KCNJ15:potassium inwardly rectifying channel subfamily J member 15 [Gene - OMIM - HGNC]
• KCNJ6:potassium inwardly rectifying channel subfamily J member 6 [Gene - OMIM - HGNC]
• PSMG1:proteasome assembly chaperone 1 [Gene - OMIM - HGNC]
• POFUT2:protein O-fucosyltransferase 2 [Gene - OMIM - HGNC]
• PRMT2:protein arginine methyltransferase 2 [Gene - OMIM - HGNC]
• PDXK:pyridoxal kinase [Gene - OMIM - HGNC]
• RSPH1:radial spoke head component 1 [Gene - OMIM - HGNC]
• RIPK4:receptor interacting serine/threonine kinase 4 [Gene - OMIM - HGNC]
• RRP1:ribosomal RNA processing 1 [Gene - OMIM - HGNC]
• RRP1B:ribosomal RNA processing 1B [Gene - OMIM - HGNC]
• SIK1:salt inducible kinase 1 [Gene - OMIM - HGNC]
• SUMO3:small ubiquitin like modifier 3 [Gene - OMIM - HGNC]
• SLC19A1:solute carrier family 19 member 1 [Gene - OMIM - HGNC]
• SLC37A1:solute carrier family 37 member 1 [Gene - OMIM - HGNC]
• SPATC1L:spermatogenesis and centriole associated 1 like [Gene - OMIM - HGNC]
• TSPEAR:thrombospondin type laminin G domain and EAR repeats [Gene - OMIM - HGNC]
• TRAPPC10:trafficking protein particle complex subunit 10 [Gene - OMIM - HGNC]
• TRPM2:transient receptor potential cation channel subfamily M member 2 [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]
• UBE2G2:ubiquitin conjugating enzyme E2 G2 [Gene - OMIM - HGNC]
• UMODL1:uromodulin like 1 [Gene - OMIM - HGNC]
• YBEY:ybeY metalloendoribonuclease [Gene - OMIM - HGNC]
• ZBTB21:zinc finger and BTB domain containing 21 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

21q22.13-22.3

Genomic location:

Chr21: 38699545 - 48097372 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1

HGVS:

NC_000021.8:g.(?_38699545)_(48097372_?)del

This HGVS expression did not pass validation

Links:

dbVar: nssv13640137; dbVar: nsv2776385

Observations:

1