ClinVar

GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1

Genes:

• AGPAT3:1-acylglycerol-3-phosphate O-acyltransferase 3 [Gene - OMIM - HGNC]
• DNMT3L:DNA methyltransferase 3 like [Gene - OMIM - HGNC]
• NDUFV3:NADH:ubiquinone oxidoreductase subunit V3 [Gene - OMIM - HGNC]
• PKNOX1:PBX/knotted 1 homeobox 1 [Gene - OMIM - HGNC]
• PWP2:PWP2 small subunit processome component [Gene - OMIM - HGNC]
• U2AF1:U2 small nuclear RNA auxiliary factor 1 [Gene - OMIM - HGNC]
• WDR4:WD repeat domain 4 [Gene - OMIM - HGNC]
• AIRE:autoimmune regulator [Gene - OMIM - HGNC]
• CFAP410:cilia and flagella associated protein 410 [Gene - OMIM - HGNC]
• CRYAA:crystallin alpha A [Gene - OMIM - HGNC]
• CBS:cystathionine beta-synthase [Gene - OMIM - HGNC]
• CSTB:cystatin B [Gene - OMIM - HGNC]
• GATD3:glutamine amidotransferase class 1 domain containing 3 [Gene - OMIM - HGNC]
• HSF2BP:heat shock transcription factor 2 binding protein [Gene - OMIM - HGNC]
• ICOSLG:inducible T cell costimulator ligand [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]
• LRRC3:leucine rich repeat containing 3 [Gene - OMIM - HGNC]
• PDE9A:phosphodiesterase 9A [Gene - OMIM - HGNC]
• PFKL:phosphofructokinase, liver type [Gene - OMIM - HGNC]
• PDXK:pyridoxal kinase [Gene - OMIM - HGNC]
• RSPH1:radial spoke head component 1 [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]
• SLC37A1:solute carrier family 37 member 1 [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]
• TMPRSS3:transmembrane serine protease 3 [Gene - OMIM - HGNC]
• TFF1:trefoil factor 1 [Gene - OMIM - HGNC]
• TFF2:trefoil factor 2 [Gene - OMIM - HGNC]
• UBASH3A:ubiquitin associated and SH3 domain containing A [Gene - OMIM - HGNC]
• UBE2G2:ubiquitin conjugating enzyme E2 G2 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

21q22.3

Genomic location:

Chr21: 43756585 - 46240105 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1

HGVS:

NC_000021.8:g.(?_43756585)_(46240105_?)del

This HGVS expression did not pass validation