ClinVar

GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3

Genes:

• BCR:BCR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
• BPIFC:BPI fold containing family C [Gene - OMIM - HGNC]
• DDTL:D-dopachrome tautomerase like [Gene - HGNC]
• DDT:D-dopachrome tautomerase [Gene - OMIM - HGNC]
• DEPDC5:DEP domain containing 5, GATOR1 subcomplex subunit [Gene - OMIM - HGNC]
• EMID1:EMI domain containing 1 [Gene - OMIM - HGNC]
• EWSR1:EWS RNA binding protein 1 [Gene - OMIM - HGNC]
• FBXO7:F-box protein 7 [Gene - OMIM - HGNC]
• GNAZ:G protein subunit alpha z [Gene - OMIM - HGNC]
• GRK3:G protein-coupled receptor kinase 3 [Gene - OMIM - HGNC]
• HORMAD2:HORMA domain containing 2 [Gene - OMIM - HGNC]
• HPS4:HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 [Gene - OMIM - HGNC]
• HSCB:HscB mitochondrial iron-sulfur cluster cochaperone [Gene - OMIM - HGNC]
• KIAA1671:KIAA1671 [Gene - HGNC]
• LARGE1:LARGE xylosyl- and glucuronyltransferase 1 [Gene - OMIM - HGNC]
• LHFPL7:LHFPL tetraspan subfamily member 7 [Gene - HGNC]
• LIF:LIF interleukin 6 family cytokine [Gene - OMIM - HGNC]
• LIMK2:LIM domain kinase 2 [Gene - OMIM - HGNC]
• MN1:MN1 proto-oncogene, transcriptional regulator [Gene - OMIM - HGNC]
• MORC2:MORC family CW-type zinc finger 2 [Gene - OMIM - HGNC]
• NF2:NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [Gene - OMIM - HGNC]
• PATZ1:POZ/BTB and AT hook containing zinc finger 1 [Gene - OMIM - HGNC]
• PRAME:PRAME nuclear receptor transcriptional regulator [Gene - OMIM - HGNC]
• RAB36:RAB36, member RAS oncogene family [Gene - OMIM - HGNC]
• RASL10A:RAS like family 10 member A [Gene - OMIM - HGNC]
• RFPL1S:RFPL1 antisense RNA 1 [Gene - OMIM - HGNC]
• RFPL3S:RFPL3 antisense [Gene - OMIM - HGNC]
• RTCB:RNA 2',3'-cyclic phosphate and 5'-OH ligase [Gene - OMIM - HGNC]
• SEC14L2:SEC14 like lipid binding 2 [Gene - OMIM - HGNC]
• SEC14L3:SEC14 like lipid binding 3 [Gene - OMIM - HGNC]
• SEC14L4:SEC14 like lipid binding 4 [Gene - OMIM - HGNC]
• SEC14L6:SEC14 like lipid binding 6 [Gene - HGNC]
• SFI1:SFI1 centrin binding protein [Gene - OMIM - HGNC]
• SRRD:SRR1 domain containing [Gene - OMIM - HGNC]
• SMARCB1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [Gene - OMIM - HGNC]
• TBC1D10A:TBC1 domain family member 10A [Gene - OMIM - HGNC]
• THOC5:THO complex subunit 5 [Gene - OMIM - HGNC]
• TIMP3:TIMP metallopeptidase inhibitor 3 [Gene - OMIM - HGNC]
• VPREB1:V-set pre-B cell surrogate light chain 1 [Gene - OMIM - HGNC]
• VPREB3:V-set pre-B cell surrogate light chain 3 [Gene - OMIM - HGNC]
• XBP1:X-box binding protein 1 [Gene - OMIM - HGNC]
• YWHAH-AS1:YWHAH antisense RNA 1 [Gene - HGNC]
• ASCC2:activating signal cointegrator 1 complex subunit 2 [Gene - OMIM - HGNC]
• AP1B1:adaptor related protein complex 1 subunit beta 1 [Gene - OMIM - HGNC]
• ADORA2A:adenosine A2a receptor [Gene - OMIM - HGNC]
• ASPHD2:aspartate beta-hydroxylase domain containing 2 [Gene - HGNC]
• DRICH1:aspartate rich 1 [Gene - HGNC]
• UPB1:beta-ureidopropionase 1 [Gene - OMIM - HGNC]
• CABIN1:calcineurin binding protein 1 [Gene - OMIM - HGNC]
• CABP7:calcium binding protein 7 [Gene - OMIM - HGNC]
• CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]
• C22orf15:chromosome 22 open reading frame 15 [Gene - HGNC]
• C22orf31:chromosome 22 open reading frame 31 [Gene - HGNC]
• C22orf42:chromosome 22 open reading frame 42 [Gene - HGNC]
• CCDC117:coiled-coil domain containing 117 [Gene - HGNC]
• CCDC157:coiled-coil domain containing 157 [Gene - OMIM - HGNC]
• CHCHD10:coiled-coil-helix-coiled-coil-helix domain containing 10 [Gene - OMIM - HGNC]
• CRYBA4:crystallin beta A4 [Gene - OMIM - HGNC]
• CRYBB1:crystallin beta B1 [Gene - OMIM - HGNC]
• CRYBB2:crystallin beta B2 [Gene - OMIM - HGNC]
• CRYBB3:crystallin beta B3 [Gene - OMIM - HGNC]
• CASTOR1:cytosolic arginine sensor for mTORC1 subunit 1 [Gene - OMIM - HGNC]
• DERL3:derlin 3 [Gene - OMIM - HGNC]
• DRG1:developmentally regulated GTP binding protein 1 [Gene - OMIM - HGNC]
• DUSP18:dual specificity phosphatase 18 [Gene - OMIM - HGNC]
• EIF4ENIF1:eukaryotic translation initiation factor 4E nuclear import factor 1 [Gene - OMIM - HGNC]
• GAL3ST1:galactose-3-O-sulfotransferase 1 [Gene - OMIM - HGNC]
• GGT1:gamma-glutamyltransferase 1 [Gene - OMIM - HGNC]
• GGT5:gamma-glutamyltransferase 5 [Gene - OMIM - HGNC]
• GGTLC2:gamma-glutamyltransferase light chain 2 [Gene - OMIM - HGNC]
• GSTT1:glutathione S-transferase theta 1 [Gene - OMIM - HGNC]
• GSTT2:glutathione S-transferase theta 2 (gene/pseudogene) [Gene - OMIM - HGNC]
• GSTT2B:glutathione S-transferase theta 2B [Gene - HGNC]
• GAS2L1:growth arrest specific 2 like 1 [Gene - OMIM - HGNC]
• GUCD1:guanylyl cyclase domain containing 1 [Gene - OMIM - HGNC]
• IGLC1:immunoglobulin lambda constant 1 [Gene - OMIM - HGNC]
• IGLL1:immunoglobulin lambda like polypeptide 1 [Gene - OMIM - HGNC]
• IGLL5:immunoglobulin lambda like polypeptide 5 [Gene - HGNC]
• INPP5J:inositol polyphosphate-5-phosphatase J [Gene - OMIM - HGNC]
• KREMEN1:kringle containing transmembrane protein 1 [Gene - OMIM - HGNC]
• LRRC75B:leucine rich repeat containing 75B [Gene - HGNC]
• MIF:macrophage migration inhibitory factor [Gene - OMIM - HGNC]
• MMP11:matrix metallopeptidase 11 [Gene - OMIM - HGNC]
• MTFP1:mitochondrial fission process 1 [Gene - OMIM - HGNC]
• MIAT:myocardial infarction associated transcript [Gene - OMIM - HGNC]
• MYO18B:myosin XVIIIB [Gene - OMIM - HGNC]
• MTMR3:myotubularin related protein 3 [Gene - OMIM - HGNC]
• NEFH:neurofilament heavy chain [Gene - OMIM - HGNC]
• NIPSNAP1:nipsnap homolog 1 [Gene - OMIM - HGNC]
• OSM:oncostatin M [Gene - OMIM - HGNC]
• OSBP2:oxysterol binding protein 2 [Gene - OMIM - HGNC]
• PES1:pescadillo ribosomal biogenesis factor 1 [Gene - OMIM - HGNC]
• PITPNB:phosphatidylinositol transfer protein beta [Gene - OMIM - HGNC]
• PISD:phosphatidylserine decarboxylase [Gene - OMIM - HGNC]
• PIK3IP1:phosphoinositide-3-kinase interacting protein 1 [Gene - OMIM - HGNC]
• PLA2G3:phospholipase A2 group III [Gene - OMIM - HGNC]
• PIWIL3:piwi like RNA-mediated gene silencing 3 [Gene - OMIM - HGNC]
• PRR14L:proline rich 14 like [Gene - HGNC]
• RSPH14:radial spoke head 14 homolog [Gene - OMIM - HGNC]
• RGL4:ral guanine nucleotide dissociation stimulator like 4 [Gene - OMIM - HGNC]
• RFPL1:ret finger protein like 1 [Gene - OMIM - HGNC]
• RFPL2:ret finger protein like 2 [Gene - OMIM - HGNC]
• RFPL3:ret finger protein like 3 [Gene - OMIM - HGNC]
• RHBDD3:rhomboid domain containing 3 [Gene - HGNC]
• RNF185:ring finger protein 185 [Gene - OMIM - HGNC]
• RNF215:ring finger protein 215 [Gene - HGNC]
• SEZ6L:seizure related 6 homolog like [Gene - OMIM - HGNC]
• SELENOM:selenoprotein M [Gene - OMIM - HGNC]
• SGSM1:small G protein signaling modulator 1 [Gene - OMIM - HGNC]
• SNRPD3:small nuclear ribonucleoprotein D3 polypeptide [Gene - OMIM - HGNC]
• SMTN:smoothelin [Gene - OMIM - HGNC]
• SLC2A11:solute carrier family 2 member 11 [Gene - OMIM - HGNC]
• SLC35E4:solute carrier family 35 member E4 [Gene - HGNC]
• SLC5A1:solute carrier family 5 member 1 [Gene - OMIM - HGNC]
• SLC5A4:solute carrier family 5 member 4 [Gene - OMIM - HGNC]
• SPECC1L:sperm antigen with calponin homology and coiled-coil domains 1 like [Gene - OMIM - HGNC]
• SF3A1:splicing factor 3a subunit 1 [Gene - OMIM - HGNC]
• SUSD2:sushi domain containing 2 [Gene - OMIM - HGNC]
• SYN3:synapsin III [Gene - OMIM - HGNC]
• TUG1:taurine up-regulated 1 [Gene - OMIM - HGNC]
• TTC28:tetratricopeptide repeat domain 28 [Gene - OMIM - HGNC]
• TCN2:transcobalamin 2 [Gene - OMIM - HGNC]
• TFIP11:tuftelin interacting protein 11 [Gene - OMIM - HGNC]
• YWHAH:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta [Gene - OMIM - HGNC]
• TPST2:tyrosylprotein sulfotransferase 2 [Gene - OMIM - HGNC]
• UQCR10:ubiquinol-cytochrome c reductase, complex III subunit X [Gene - OMIM - HGNC]
• ZNRF3:zinc and ring finger 3 [Gene - OMIM - HGNC]
• ZMAT5:zinc finger matrin-type 5 [Gene - OMIM - HGNC]
• ZNF280A:zinc finger protein 280A [Gene - HGNC]
• ZNF280B:zinc finger protein 280B [Gene - HGNC]
• ZNF70:zinc finger protein 70 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

22q11.22-12.3

Genomic location:

Chr22: 22460754 - 35198232 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3

HGVS:

This HGVS expression did not pass validation