ClinVar

GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1

Genes:

• AGPAT3:1-acylglycerol-3-phosphate O-acyltransferase 3 [Gene - OMIM - HGNC]
• DNMT3L:DNA methyltransferase 3 like [Gene - OMIM - HGNC]
• PTTG1IP:PTTG1 interacting protein [Gene - OMIM - HGNC]
• PWP2:PWP2 small subunit processome component [Gene - OMIM - HGNC]
• S100B:S100 calcium binding protein B [Gene - OMIM - HGNC]
• SLX9:SLX9 ribosome biogenesis factor [Gene - HGNC]
• ADARB1:adenosine deaminase RNA specific B1 [Gene - OMIM - HGNC]
• AIRE:autoimmune regulator [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]
• CSTB:cystatin B [Gene - OMIM - HGNC]
• DIP2A:disco interacting protein 2 homolog A [Gene - OMIM - HGNC]
• FTCD:formimidoyltransferase cyclodeaminase [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]
• 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]
• LRRC3:leucine rich repeat containing 3 [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]
• PFKL:phosphofructokinase, liver type [Gene - OMIM - HGNC]
• PCBP3:poly(rC) binding protein 3 [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]
• 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]
• 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]
• UBE2G2:ubiquitin conjugating enzyme E2 G2 [Gene - OMIM - HGNC]
• YBEY:ybeY metalloendoribonuclease [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

21q22.3

Genomic location:

Chr21: 44577746 - 48097372 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1

HGVS:

This HGVS expression did not pass validation

Observations:

1