ClinVar

GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3

Genes:

• ARVCF:ARVCF delta catenin family member [Gene - OMIM - HGNC]
• ATP6V1E1:ATPase H+ transporting V1 subunit E1 [Gene - OMIM - HGNC]
• BCL2L13:BCL2 like 13 [Gene - OMIM - HGNC]
• BID:BH3 interacting domain death agonist [Gene - OMIM - HGNC]
• CECR2:CECR2 histone acetyl-lysine reader [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]
• GAB4:GRB2 associated binding protein family member 4 [Gene - HGNC]
• HIC2:HIC ZBTB transcriptional repressor 2 [Gene - OMIM - HGNC]
• RANBP1:RAN binding protein 1 [Gene - OMIM - HGNC]
• RIMBP3:RIMS binding protein 3 [Gene - OMIM - HGNC]
• RIMBP3B:RIMS binding protein 3B [Gene - OMIM - HGNC]
• RIMBP3C:RIMS binding protein 3C [Gene - OMIM - HGNC]
• TBX1:T-box transcription factor 1 [Gene - OMIM - HGNC]
• THAP7:THAP domain containing 7 [Gene - OMIM - HGNC]
• XKR3:XK related 3 [Gene - OMIM - HGNC]
• YDJC:YdjC chitooligosaccharide deacetylase homolog [Gene - OMIM - HGNC]
• ADA2:adenosine deaminase 2 [Gene - OMIM - HGNC]
• AIFM3:apoptosis inducing factor mitochondria associated 3 [Gene - OMIM - HGNC]
• CECR3:cat eye syndrome chromosome region, candidate 3 [Gene - HGNC]
• COMT:catechol-O-methyltransferase [Gene - OMIM - HGNC]
• CDC45:cell division cycle 45 [Gene - OMIM - HGNC]
• CCT8L2:chaperonin containing TCP1 subunit 8 like 2 [Gene - 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]
• CCDC116:coiled-coil domain containing 116 [Gene - HGNC]
• ESS2:ess-2 splicing factor homolog [Gene - OMIM - HGNC]
• FAM230A:family with sequence similarity 230 member A [Gene - HGNC]
• GGT2:gamma-glutamyltransferase 2 [Gene - OMIM - 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]
• HDHD5:haloacid dehalogenase like hydrolase domain containing 5 [Gene - HGNC]
• HIRA:histone cell cycle regulator [Gene - OMIM - HGNC]
• IL17RA:interleukin 17 receptor A [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]
• MIR130B:microRNA 130b [Gene - OMIM - HGNC]
• MICAL3:microtubule associated monooxygenase, calponin and LIM domain containing 3 [Gene - OMIM - HGNC]
• MRPL40:mitochondrial ribosomal protein L40 [Gene - OMIM - HGNC]
• MAPK1:mitogen-activated protein kinase 1 [Gene - OMIM - HGNC]
• PPIL2:peptidylprolyl isomerase like 2 [Gene - OMIM - HGNC]
• PEX26:peroxisomal biogenesis factor 26 [Gene - OMIM - HGNC]
• PI4KA:phosphatidylinositol 4-kinase alpha [Gene - OMIM - HGNC]
• PRODH:proline dehydrogenase 1 [Gene - OMIM - HGNC]
• PPM1F:protein phosphatase, Mg2+/Mn2+ dependent 1F [Gene - OMIM - HGNC]
• P2RX6:purinergic receptor P2X 6 [Gene - OMIM - HGNC]
• RTN4R:reticulon 4 receptor [Gene - OMIM - HGNC]
• RTL10:retrotransposon Gag like 10 [Gene - 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]
• SLC25A18:solute carrier family 25 member 18 [Gene - OMIM - HGNC]
• SLC25A1:solute carrier family 25 member 1 [Gene - OMIM - HGNC]
• SLC7A4:solute carrier family 7 member 4 [Gene - OMIM - HGNC]
• SDF2L1:stromal cell derived factor 2 like 1 [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]
• TMEM121B:transmembrane protein 121B [Gene - HGNC]
• TMEM191B:transmembrane protein 191B [Gene - HGNC]
• TMEM191C:transmembrane protein 191C [Gene - HGNC]
• TANGO2:transport and golgi organization 2 homolog [Gene - OMIM - HGNC]
• TUBA8:tubulin alpha 8 [Gene - OMIM - HGNC]
• UBE2L3:ubiquitin conjugating enzyme E2 L3 [Gene - OMIM - HGNC]
• UFD1:ubiquitin recognition factor in ER associated degradation 1 [Gene - OMIM - HGNC]
• USP18:ubiquitin specific peptidase 18 [Gene - OMIM - HGNC]
• USP41:ubiquitin specific peptidase 41 [Gene - HGNC]
• YPEL1:yippee like 1 [Gene - OMIM - HGNC]
• ZDHHC8:zinc finger DHHC-type palmitoyltransferase 8 [Gene - OMIM - HGNC]
• ZNF74:zinc finger protein 74 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

22q11.1-11.22

Genomic location:

Chr22: 16888899 - 22290476 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3

HGVS:

This HGVS expression did not pass validation