ClinVar

GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3

Genes:

• ARFGAP3:ADP ribosylation factor GTPase activating protein 3 [Gene - OMIM - HGNC]
• ALG12:ALG12 alpha-1,6-mannosyltransferase [Gene - OMIM - HGNC]
• ATP5MGL:ATP synthase membrane subunit g like [Gene - HGNC]
• BIK:BCL2 interacting killer [Gene - OMIM - HGNC]
• DENND6B:DENN domain containing 6B [Gene - HGNC]
• POLDIP3:DNA polymerase delta interacting protein 3 [Gene - OMIM - HGNC]
• DNAJB7:DnaJ heat shock protein family (Hsp40) member B7 [Gene - OMIM - HGNC]
• EP300:E1A binding protein p300 [Gene - OMIM - HGNC]
• EFCAB6:EF-hand calcium binding domain 6 [Gene - OMIM - HGNC]
• GTSE1:G2 and S-phase expressed 1 [Gene - OMIM - HGNC]
• GRAMD4:GRAM domain containing 4 [Gene - OMIM - HGNC]
• KIAA0930:KIAA0930 [Gene - OMIM - HGNC]
• L3MBTL2:L3MBTL histone methyl-lysine binding protein 2 [Gene - OMIM - HGNC]
• L3MBTL2-AS1:L3MBTL2 antisense RNA 1 [Gene - HGNC]
• MOV10L1:Mov10 like RISC complex RNA helicase 1 [Gene - OMIM - HGNC]
• NDUFA6:NADH:ubiquinone oxidoreductase subunit A6 [Gene - OMIM - HGNC]
• NFAM1:NFAT activating protein with ITAM motif 1 [Gene - OMIM - HGNC]
• PHETA2:PH domain containing endocytic trafficking adaptor 2 [Gene - OMIM - HGNC]
• PHF21B:PHD finger protein 21B [Gene - OMIM - HGNC]
• PHF5A:PHD finger protein 5A [Gene - OMIM - HGNC]
• PRR34:PRR34 long non-coding RNA [Gene - HGNC]
• PRR5-ARHGAP8:PRR5-ARHGAP8 readthrough [Gene - HGNC]
• PIM3:Pim-3 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
• RABL2B:RAB, member of RAS oncogene family like 2B [Gene - OMIM - HGNC]
• RIBC2:RIB43A domain with coiled-coils 2 [Gene - HGNC]
• POLR3H:RNA polymerase III subunit H [Gene - OMIM - HGNC]
• RANGAP1:Ran GTPase activating protein 1 [Gene - OMIM - HGNC]
• ARHGAP8:Rho GTPase activating protein 8 [Gene - OMIM - HGNC]
• SAMM50:SAMM50 sorting and assembly machinery component [Gene - OMIM - HGNC]
• SBF1:SET binding factor 1 [Gene - OMIM - HGNC]
• SHANK3:SH3 and multiple ankyrin repeat domains 3 [Gene - OMIM - HGNC]
• ST13:ST13 Hsp70 interacting protein [Gene - OMIM - HGNC]
• TAFA5:TAFA chemokine like family member 5 [Gene - OMIM - HGNC]
• TBC1D22A:TBC1 domain family member 22A [Gene - OMIM - HGNC]
• TEF:TEF transcription factor, PAR bZIP family member [Gene - OMIM - HGNC]
• TNFRSF13C:TNF receptor superfamily member 13C [Gene - OMIM - HGNC]
• TTLL1:TTL family tubulin polyglutamylase complex subunit L1 [Gene - OMIM - HGNC]
• TRABD:TraB domain containing [Gene - HGNC]
• WBP2NL:WBP2 N-terminal like [Gene - OMIM - HGNC]
• WNT7B:Wnt family member 7B [Gene - OMIM - HGNC]
• XPNPEP3:X-prolyl aminopeptidase 3 [Gene - OMIM - HGNC]
• XRCC6:X-ray repair cross complementing 6 [Gene - OMIM - HGNC]
• ACO2:aconitase 2 [Gene - OMIM - HGNC]
• ACR:acrosin [Gene - OMIM - HGNC]
• ADSL:adenylosuccinate lyase [Gene - OMIM - HGNC]
• ADM2:adrenomedullin 2 [Gene - OMIM - HGNC]
• A4GALT:alpha 1,4-galactosyltransferase (P blood group) [Gene - OMIM - HGNC]
• NAGA:alpha-N-acetylgalactosaminidase [Gene - OMIM - HGNC]
• ARSA:arylsulfatase A [Gene - OMIM - HGNC]
• ATXN10:ataxin 10 [Gene - OMIM - HGNC]
• BRD1:bromodomain containing 1 [Gene - OMIM - HGNC]
• CELSR1:cadherin EGF LAG seven-pass G-type receptor 1 [Gene - OMIM - HGNC]
• CPT1B:carnitine palmitoyltransferase 1B [Gene - OMIM - HGNC]
• CENPM:centromere protein M [Gene - OMIM - HGNC]
• CERK:ceramide kinase [Gene - OMIM - HGNC]
• CHKB:choline kinase beta [Gene - OMIM - HGNC]
• CHADL:chondroadherin like [Gene - OMIM - HGNC]
• CCDC134:coiled-coil domain containing 134 [Gene - OMIM - HGNC]
• CSDC2:cold shock domain containing C2 [Gene - OMIM - HGNC]
• CDPF1:cysteine rich DPF motif domain containing 1 [Gene - HGNC]
• CRELD2:cysteine rich with EGF like domains 2 [Gene - OMIM - HGNC]
• CYP2D6:cytochrome P450 family 2 subfamily D member 6 [Gene - OMIM - HGNC]
• CYB5R3:cytochrome b5 reductase 3 [Gene - OMIM - HGNC]
• DESI1:desumoylating isopeptidase 1 [Gene - OMIM - HGNC]
• FAM118A:family with sequence similarity 118 member A [Gene - HGNC]
• FAM83F:family with sequence similarity 83 member F [Gene - HGNC]
• FBLN1:fibulin 1 [Gene - OMIM - HGNC]
• HDAC10:histone deacetylase 10 [Gene - OMIM - HGNC]
• IL17REL:interleukin 17 receptor E like [Gene - OMIM - HGNC]
• KLHDC7B:kelch domain containing 7B [Gene - HGNC]
• LMF2:lipase maturation factor 2 [Gene - HGNC]
• MCAT:malonyl-CoA-acyl carrier protein transacylase [Gene - OMIM - HGNC]
• MEI1:meiotic double-stranded break formation protein 1 [Gene - OMIM - HGNC]
• MCHR1:melanin concentrating hormone receptor 1 [Gene - OMIM - HGNC]
• MPPED1:metallophosphoesterase domain containing 1 [Gene - OMIM - HGNC]
• MIR33A:microRNA 33a [Gene - OMIM - HGNC]
• MIRLET7A3:microRNA let-7a-3 [Gene - OMIM - HGNC]
• MIRLET7B:microRNA let-7b [Gene - OMIM - HGNC]
• MAPK11:mitogen-activated protein kinase 11 [Gene - OMIM - HGNC]
• MAPK12:mitogen-activated protein kinase 12 [Gene - OMIM - HGNC]
• MAPK8IP2:mitogen-activated protein kinase 8 interacting protein 2 [Gene - OMIM - HGNC]
• MLC1:modulator of VRAC current 1 [Gene - OMIM - HGNC]
• MIOX:myo-inositol oxygenase [Gene - OMIM - HGNC]
• MRTFA:myocardin related transcription factor A [Gene - OMIM - HGNC]
• NCAPH2:non-SMC condensin II complex subunit H2 [Gene - OMIM - HGNC]
• NUP50:nucleoporin 50 [Gene - OMIM - HGNC]
• ODF3B:outer dense fiber of sperm tails 3B [Gene - HGNC]
• PANX2:pannexin 2 [Gene - OMIM - HGNC]
• PARVB:parvin beta [Gene - OMIM - HGNC]
• PARVG:parvin gamma [Gene - OMIM - HGNC]
• PNPLA3:patatin like phospholipase domain containing 3 [Gene - OMIM - HGNC]
• PNPLA5:patatin like phospholipase domain containing 5 [Gene - OMIM - HGNC]
• PPARA:peroxisome proliferator activated receptor alpha [Gene - OMIM - HGNC]
• PMM1:phosphomannomutase 1 [Gene - OMIM - HGNC]
• PLXNB2:plexin B2 [Gene - OMIM - HGNC]
• PKDREJ:polycystin family receptor for egg jelly [Gene - OMIM - HGNC]
• PRR5:proline rich 5 [Gene - OMIM - HGNC]
• PACSIN2:protein kinase C and casein kinase substrate in neurons 2 [Gene - OMIM - HGNC]
• PPP6R2:protein phosphatase 6 regulatory subunit 2 [Gene - OMIM - HGNC]
• RTL6:retrotransposon Gag like 6 [Gene - HGNC]
• RRP7A:ribosomal RNA processing 7 homolog A [Gene - OMIM - HGNC]
• RBX1:ring-box 1 [Gene - OMIM - HGNC]
• SELENOO:selenoprotein O [Gene - OMIM - HGNC]
• SEPTIN3:septin 3 [Gene - OMIM - HGNC]
• SERHL2:serine hydrolase like 2 [Gene - OMIM - HGNC]
• SHISA8:shisa family member 8 [Gene - OMIM - HGNC]
• SHISAL1:shisa like 1 [Gene - OMIM - HGNC]
• SCUBE1:signal peptide, CUB domain and EGF like domain containing 1 [Gene - OMIM - HGNC]
• SMDT1:single-pass membrane protein with aspartate rich tail 1 [Gene - OMIM - HGNC]
• SGSM3:small G protein signaling modulator 3 [Gene - OMIM - HGNC]
• SNU13:small nuclear ribonucleoprotein 13 [Gene - OMIM - HGNC]
• SLC25A17:solute carrier family 25 member 17 [Gene - OMIM - HGNC]
• SREBF2:sterol regulatory element binding transcription factor 2 [Gene - OMIM - HGNC]
• SMC1B:structural maintenance of chromosomes 1B [Gene - OMIM - HGNC]
• SULT4A1:sulfotransferase family 4A member 1 [Gene - OMIM - HGNC]
• SYCE3:synaptonemal complex central element protein 3 [Gene - OMIM - HGNC]
• SCO2:synthesis of cytochrome C oxidase 2 [Gene - OMIM - HGNC]
• TRMU:tRNA mitochondrial 2-thiouridylase [Gene - OMIM - HGNC]
• TTC38:tetratricopeptide repeat domain 38 [Gene - HGNC]
• TYMP:thymidine phosphorylase [Gene - OMIM - HGNC]
• TCF20:transcription factor 20 [Gene - OMIM - HGNC]
• TOB2:transducer of ERBB2, 2 [Gene - OMIM - HGNC]
• TSPO:translocator protein [Gene - OMIM - HGNC]
• TNRC6B:trinucleotide repeat containing adaptor 6B [Gene - OMIM - HGNC]
• TUBGCP6:tubulin gamma complex associated protein 6 [Gene - OMIM - HGNC]
• TTLL12:tubulin tyrosine ligase like 12 [Gene - OMIM - HGNC]
• TTLL8:tubulin tyrosine ligase like 8 [Gene - OMIM - HGNC]
• UPK3A:uroplakin 3A [Gene - OMIM - HGNC]
• ZBED4:zinc finger BED-type containing 4 [Gene - OMIM - HGNC]
• ZC3H7B:zinc finger CCCH-type containing 7B [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

22q13.1-13.33

Genomic location:

Chr22: 40425714 - 51220961 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3

HGVS:

This HGVS expression did not pass validation