ClinVar

GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3

Genes:

• BCR:BCR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
• DDTL:D-dopachrome tautomerase like [Gene - HGNC]
• DDT:D-dopachrome tautomerase [Gene - OMIM - HGNC]
• TOP3B:DNA topoisomerase III beta [Gene - OMIM - HGNC]
• GNAZ:G protein subunit alpha z [Gene - OMIM - HGNC]
• HIC2:HIC ZBTB transcriptional repressor 2 [Gene - OMIM - HGNC]
• PPM1F-AS1:PPM1F antisense RNA 1 [Gene - HGNC]
• PRAME:PRAME nuclear receptor transcriptional regulator [Gene - OMIM - HGNC]
• RAB36:RAB36, member RAS oncogene family [Gene - OMIM - HGNC]
• RIMBP3C:RIMS binding protein 3C [Gene - OMIM - HGNC]
• SMARCB1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [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]
• YDJC:YdjC chitooligosaccharide deacetylase homolog [Gene - OMIM - HGNC]
• ADORA2A:adenosine A2a receptor [Gene - OMIM - HGNC]
• DRICH1:aspartate rich 1 [Gene - HGNC]
• UPB1:beta-ureidopropionase 1 [Gene - OMIM - HGNC]
• CABIN1:calcineurin binding protein 1 [Gene - OMIM - HGNC]
• C22orf15:chromosome 22 open reading frame 15 [Gene - HGNC]
• CCDC116:coiled-coil domain containing 116 [Gene - HGNC]
• CHCHD10:coiled-coil-helix-coiled-coil-helix domain containing 10 [Gene - OMIM - HGNC]
• DERL3:derlin 3 [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]
• 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]
• MIF:macrophage migration inhibitory factor [Gene - OMIM - HGNC]
• MMP11:matrix metallopeptidase 11 [Gene - OMIM - HGNC]
• MIR130B:microRNA 130b [Gene - OMIM - HGNC]
• MAPK1:mitogen-activated protein kinase 1 [Gene - OMIM - HGNC]
• PPIL2:peptidylprolyl isomerase like 2 [Gene - OMIM - HGNC]
• PPM1F:protein phosphatase, Mg2+/Mn2+ dependent 1F [Gene - OMIM - HGNC]
• RSPH14:radial spoke head 14 homolog [Gene - OMIM - HGNC]
• RGL4:ral guanine nucleotide dissociation stimulator like 4 [Gene - OMIM - HGNC]
• SNRPD3:small nuclear ribonucleoprotein D3 polypeptide [Gene - OMIM - HGNC]
• SLC2A11:solute carrier family 2 member 11 [Gene - OMIM - HGNC]
• SPECC1L:sperm antigen with calponin homology and coiled-coil domains 1 like [Gene - OMIM - HGNC]
• SDF2L1:stromal cell derived factor 2 like 1 [Gene - OMIM - HGNC]
• SUSD2:sushi domain containing 2 [Gene - OMIM - HGNC]
• TMEM191C:transmembrane protein 191C [Gene - HGNC]
• UBE2L3:ubiquitin conjugating enzyme E2 L3 [Gene - OMIM - HGNC]
• YPEL1:yippee like 1 [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:

22q11.21-11.23

Genomic location:

Chr22: 21798907 - 24963935 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3

HGVS:

This HGVS expression did not pass validation

Links:

dbVar: nssv13644876; dbVar: nsv2769765

Observations:

1