ClinVar

GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1

Genes:

• ARVCF:ARVCF delta catenin family member [Gene - OMIM - HGNC]
• CRKL:CRK like proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
• DGCR8:DGCR8 microprocessor complex subunit [Gene - OMIM - HGNC]
• DGCR2:DiGeorge syndrome critical region gene 2 [Gene - OMIM - HGNC]
• DGCR6L:DiGeorge syndrome critical region gene 6 like [Gene - OMIM - HGNC]
• DGCR6:DiGeorge syndrome critical region gene 6 [Gene - OMIM - HGNC]
• GNB1L:G protein subunit beta 1 like [Gene - OMIM - HGNC]
• RANBP1:RAN binding protein 1 [Gene - OMIM - HGNC]
• RIMBP3:RIMS binding protein 3 [Gene - OMIM - HGNC]
• TBX1:T-box transcription factor 1 [Gene - OMIM - HGNC]
• THAP7:THAP domain containing 7 [Gene - OMIM - HGNC]
• AIFM3:apoptosis inducing factor mitochondria associated 3 [Gene - OMIM - HGNC]
• COMT:catechol-O-methyltransferase [Gene - OMIM - HGNC]
• CDC45:cell division cycle 45 [Gene - OMIM - HGNC]
• C22orf39:chromosome 22 open reading frame 39 [Gene - HGNC]
• CLTCL1:clathrin heavy chain like 1 [Gene - OMIM - HGNC]
• CLDN5:claudin 5 [Gene - OMIM - HGNC]
• ESS2:ess-2 splicing factor homolog [Gene - OMIM - HGNC]
• FAM230A:family with sequence similarity 230 member A [Gene - HGNC]
• GGTLC3:gamma-glutamyltransferase light chain family member 3 [Gene - OMIM - HGNC]
• GP1BB:glycoprotein Ib platelet subunit beta [Gene - OMIM - HGNC]
• GSC2:goosecoid homeobox 2 [Gene - OMIM - HGNC]
• HIRA:histone cell cycle regulator [Gene - OMIM - HGNC]
• KLHL22:kelch like family member 22 [Gene - OMIM - HGNC]
• LZTR1:leucine zipper like post translational regulator 1 [Gene - OMIM - HGNC]
• MED15:mediator complex subunit 15 [Gene - OMIM - HGNC]
• MRPL40:mitochondrial ribosomal protein L40 [Gene - OMIM - HGNC]
• PI4KA:phosphatidylinositol 4-kinase alpha [Gene - OMIM - HGNC]
• PRODH:proline dehydrogenase 1 [Gene - OMIM - HGNC]
• P2RX6:purinergic receptor P2X 6 [Gene - OMIM - HGNC]
• RTN4R:reticulon 4 receptor [Gene - OMIM - HGNC]
• RTL10:retrotransposon Gag like 10 [Gene - OMIM - HGNC]
• SCARF2:scavenger receptor class F member 2 [Gene - OMIM - HGNC]
• SEPTIN5:septin 5 [Gene - OMIM - HGNC]
• SERPIND1:serpin family D member 1 [Gene - OMIM - HGNC]
• SLC25A1:solute carrier family 25 member 1 [Gene - OMIM - HGNC]
• SLC7A4:solute carrier family 7 member 4 [Gene - OMIM - HGNC]
• SNAP29:synaptosome associated protein 29 [Gene - OMIM - HGNC]
• TRMT2A:tRNA methyltransferase 2 homolog A [Gene - OMIM - HGNC]
• TSSK2:testis specific serine kinase 2 [Gene - OMIM - HGNC]
• TXNRD2:thioredoxin reductase 2 [Gene - OMIM - HGNC]
• TMEM191B:transmembrane protein 191B [Gene - HGNC]
• TANGO2:transport and golgi organization 2 homolog [Gene - OMIM - HGNC]
• UFD1:ubiquitin recognition factor in ER associated degradation 1 [Gene - OMIM - HGNC]
• USP41:ubiquitin specific peptidase 41 [Gene - HGNC]
• ZDHHC8:zinc finger DHHC-type palmitoyltransferase 8 [Gene - OMIM - HGNC]
• ZNF74:zinc finger protein 74 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

22q11.21

Genomic location:

Chr22: 18893888 - 21414817 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1

HGVS:

This HGVS expression did not pass validation

Observations:

3