GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 AND See cases

Clinical significance:Pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000448847.1

Allele description [Variation Report for GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3]

GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3

Genes:
  • ARFGAP3:ADP ribosylation factor GTPase activating protein 3 [Gene - OMIM - HGNC]
  • ALG12:ALG12 alpha-1,6-mannosyltransferase [Gene - OMIM - HGNC]
  • ARVCF:ARVCF delta catenin family member [Gene - OMIM - HGNC]
  • ATP5MGL:ATP synthase membrane subunit g like [Gene - HGNC]
  • ATP6V1E1:ATPase H+ transporting V1 subunit E1 [Gene - OMIM - HGNC]
  • BAIAP2L2:BAR/IMD domain containing adaptor protein 2 like 2 [Gene - OMIM - HGNC]
  • BIK:BCL2 interacting killer [Gene - OMIM - HGNC]
  • BCL2L13:BCL2 like 13 [Gene - HGNC]
  • BCR:BCR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
  • BID:BH3 interacting domain death agonist [Gene - OMIM - HGNC]
  • BPIFC:BPI fold containing family C [Gene - OMIM - HGNC]
  • C1QTNF6:C1q and TNF related 6 [Gene - OMIM - HGNC]
  • CDC42EP1:CDC42 effector protein 1 [Gene - OMIM - HGNC]
  • CECR2:CECR2 histone acetyl-lysine reader [Gene - OMIM - HGNC]
  • CRKL:CRK like proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
  • DDTL:D-dopachrome tautomerase like [Gene - HGNC]
  • DDT:D-dopachrome tautomerase [Gene - OMIM - HGNC]
  • DDX17:DEAD-box helicase 17 [Gene - OMIM - HGNC]
  • DENND6B:DENN domain containing 6B [Gene - HGNC]
  • DEPDC5:DEP domain containing 5, GATOR1 subcomplex subunit [Gene - OMIM - HGNC]
  • DGCR8:DGCR8 microprocessor complex subunit [Gene - OMIM - HGNC]
  • DMC1:DNA meiotic recombinase 1 [Gene - OMIM - HGNC]
  • POLDIP3:DNA polymerase delta interacting protein 3 [Gene - OMIM - HGNC]
  • TOP3B:DNA topoisomerase III beta [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]
  • 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 - HGNC]
  • EMID1:EMI domain containing 1 [Gene - OMIM - HGNC]
  • ENTHD1:ENTH domain containing 1 [Gene - HGNC]
  • EWSR1:EWS RNA binding protein 1 [Gene - OMIM - HGNC]
  • FBXO7:F-box protein 7 [Gene - OMIM - HGNC]
  • FOXRED2:FAD dependent oxidoreductase domain containing 2 [Gene - OMIM - HGNC]
  • GNAZ:G protein subunit alpha z [Gene - OMIM - HGNC]
  • GNB1L:G protein subunit beta 1 like [Gene - OMIM - HGNC]
  • GRK3:G protein-coupled receptor kinase 3 [Gene - OMIM - HGNC]
  • GTSE1:G2 and S-phase expressed 1 [Gene - OMIM - HGNC]
  • GRAMD4:GRAM domain containing 4 [Gene - OMIM - HGNC]
  • GAB4:GRB2 associated binding protein family member 4 [Gene - HGNC]
  • GRAP2:GRB2 related adaptor protein 2 [Gene - OMIM - HGNC]
  • GTPBP1:GTP binding protein 1 [Gene - OMIM - HGNC]
  • H1-0:H1.0 linker histone [Gene - OMIM - HGNC]
  • HIC2:HIC ZBTB transcriptional repressor 2 [Gene - OMIM - HGNC]
  • HMGXB4:HMG-box containing 4 [Gene - OMIM - HGNC]
  • HORMAD2:HORMA domain containing 2 [Gene - HGNC]
  • HPS4:HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 [Gene - OMIM - HGNC]
  • HSCB:HscB mitochondrial iron-sulfur cluster cochaperone [Gene - OMIM - HGNC]
  • JOSD1:Josephin domain containing 1 [Gene - OMIM - HGNC]
  • KDELR3:KDEL endoplasmic reticulum protein retention receptor 3 [Gene - HGNC]
  • KIAA0930:KIAA0930 [Gene - HGNC]
  • KIAA1671:KIAA1671 [Gene - HGNC]
  • L3MBTL2:L3MBTL histone methyl-lysine binding protein 2 [Gene - OMIM - HGNC]
  • L3MBTL2-AS1:L3MBTL2 antisense RNA 1 [Gene - HGNC]
  • LARGE1:LARGE xylosyl- and glucuronyltransferase 1 [Gene - OMIM - HGNC]
  • LRP5L:LDL receptor related protein 5 like [Gene - HGNC]
  • LIF:LIF interleukin 6 family cytokine [Gene - OMIM - HGNC]
  • LIMK2:LIM domain kinase 2 [Gene - OMIM - HGNC]
  • MAFF:MAF bZIP transcription factor F [Gene - OMIM - HGNC]
  • MFNG:MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
  • MICALL1:MICAL like 1 [Gene - HGNC]
  • MN1:MN1 proto-oncogene, transcriptional regulator [Gene - OMIM - HGNC]
  • MORC2:MORC family CW-type zinc finger 2 [Gene - OMIM - 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]
  • POTEH:POTE ankyrin domain family member H [Gene - OMIM - HGNC]
  • PATZ1:POZ/BTB and AT hook containing zinc finger 1 [Gene - OMIM - HGNC]
  • PPM1F-AS1:PPM1F antisense RNA 1 [Gene - 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]
  • RAB36:RAB36, member RAS oncogene family [Gene - OMIM - HGNC]
  • RANBP1:RAN binding protein 1 [Gene - OMIM - HGNC]
  • RASL10A:RAS like family 10 member A [Gene - OMIM - HGNC]
  • RASD2:RASD family member 2 [Gene - OMIM - HGNC]
  • RFPL1S:RFPL1 antisense RNA 1 [Gene - OMIM - HGNC]
  • RFPL3S:RFPL3 antisense [Gene - OMIM - HGNC]
  • RIBC2:RIB43A domain with coiled-coils 2 [Gene - 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]
  • RTCB:RNA 2',3'-cyclic phosphate and 5'-OH ligase [Gene - OMIM - HGNC]
  • RBFOX2:RNA binding fox-1 homolog 2 [Gene - OMIM - HGNC]
  • POLR2F:RNA polymerase II subunit F [Gene - OMIM - HGNC]
  • POLR3H:RNA polymerase III subunit H [Gene - HGNC]
  • RAC2:Rac family small GTPase 2 [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]
  • 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]
  • SBF1:SET binding factor 1 [Gene - OMIM - HGNC]
  • SFI1:SFI1 centrin binding protein [Gene - OMIM - HGNC]
  • SHANK3:SH3 and multiple ankyrin repeat domains 3 [Gene - OMIM - HGNC]
  • SH3BP1:SH3 domain binding protein 1 [Gene - OMIM - HGNC]
  • SRRD:SRR1 domain containing [Gene - OMIM - HGNC]
  • SOX10:SRY-box transcription factor 10 [Gene - OMIM - HGNC]
  • ST13:ST13 Hsp70 interacting protein [Gene - OMIM - HGNC]
  • SMARCB1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [Gene - OMIM - HGNC]
  • SUN2:Sad1 and UNC84 domain containing 2 [Gene - OMIM - HGNC]
  • TBX1:T-box transcription factor 1 [Gene - OMIM - HGNC]
  • TAFA5:TAFA chemokine like family member 5 [Gene - OMIM - HGNC]
  • TBC1D10A:TBC1 domain family member 10A [Gene - OMIM - HGNC]
  • TBC1D22A:TBC1 domain family member 22A [Gene - OMIM - HGNC]
  • TEF:TEF transcription factor, PAR bZIP family member [Gene - OMIM - HGNC]
  • TAB1:TGF-beta activated kinase 1 (MAP3K7) binding protein 1 [Gene - OMIM - HGNC]
  • THAP7:THAP domain containing 7 [Gene - OMIM - HGNC]
  • THOC5:THO complex 5 [Gene - OMIM - HGNC]
  • TIMP3:TIMP metallopeptidase inhibitor 3 [Gene - OMIM - HGNC]
  • TNFRSF13C:TNF receptor superfamily member 13C [Gene - OMIM - HGNC]
  • TRIOBP:TRIO and F-actin binding protein [Gene - OMIM - HGNC]
  • TRABD:TraB domain containing [Gene - 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]
  • WBP2NL:WBP2 N-terminal like [Gene - OMIM - HGNC]
  • WNT7B:Wnt family member 7B [Gene - OMIM - HGNC]
  • XBP1:X-box binding protein 1 [Gene - OMIM - HGNC]
  • XPNPEP3:X-prolyl aminopeptidase 3 [Gene - OMIM - HGNC]
  • XRCC6:X-ray repair cross complementing 6 [Gene - OMIM - HGNC]
  • XKR3:XK related 3 [Gene - OMIM - HGNC]
  • YDJC:YdjC chitooligosaccharide deacetylase homolog [Gene - HGNC]
  • ACO2:aconitase 2 [Gene - OMIM - HGNC]
  • ACR:acrosin [Gene - OMIM - HGNC]
  • ASCC2:activating signal cointegrator 1 complex subunit 2 [Gene - OMIM - HGNC]
  • ATF4:activating transcription factor 4 [Gene - OMIM - HGNC]
  • AP1B1:adaptor related protein complex 1 subunit beta 1 [Gene - OMIM - HGNC]
  • ADORA2A:adenosine A2a receptor [Gene - OMIM - HGNC]
  • ADA2:adenosine deaminase 2 [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]
  • ANKRD54:ankyrin repeat domain 54 [Gene - OMIM - HGNC]
  • APOBEC3A:apolipoprotein B mRNA editing enzyme catalytic subunit 3A [Gene - OMIM - HGNC]
  • APOBEC3B:apolipoprotein B mRNA editing enzyme catalytic subunit 3B [Gene - OMIM - HGNC]
  • APOBEC3C:apolipoprotein B mRNA editing enzyme catalytic subunit 3C [Gene - OMIM - HGNC]
  • APOBEC3D:apolipoprotein B mRNA editing enzyme catalytic subunit 3D [Gene - OMIM - HGNC]
  • APOBEC3F:apolipoprotein B mRNA editing enzyme catalytic subunit 3F [Gene - OMIM - HGNC]
  • APOBEC3G:apolipoprotein B mRNA editing enzyme catalytic subunit 3G [Gene - OMIM - HGNC]
  • APOBEC3H:apolipoprotein B mRNA editing enzyme catalytic subunit 3H [Gene - OMIM - HGNC]
  • APOL1:apolipoprotein L1 [Gene - OMIM - HGNC]
  • APOL2:apolipoprotein L2 [Gene - OMIM - HGNC]
  • APOL3:apolipoprotein L3 [Gene - OMIM - HGNC]
  • APOL4:apolipoprotein L4 [Gene - OMIM - HGNC]
  • APOL5:apolipoprotein L5 [Gene - OMIM - HGNC]
  • APOL6:apolipoprotein L6 [Gene - OMIM - HGNC]
  • AIFM3:apoptosis inducing factor mitochondria associated 3 [Gene - OMIM - HGNC]
  • ARSA:arylsulfatase A [Gene - OMIM - HGNC]
  • ASPHD2:aspartate beta-hydroxylase domain containing 2 [Gene - HGNC]
  • DRICH1:aspartate rich 1 [Gene - HGNC]
  • ATXN10:ataxin 10 [Gene - OMIM - HGNC]
  • MGAT3:beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
  • UPB1:beta-ureidopropionase 1 [Gene - OMIM - HGNC]
  • BRD1:bromodomain containing 1 [Gene - OMIM - HGNC]
  • CELSR1:cadherin EGF LAG seven-pass G-type receptor 1 [Gene - OMIM - HGNC]
  • CABIN1:calcineurin binding protein 1 [Gene - OMIM - HGNC]
  • CABP7:calcium binding protein 7 [Gene - HGNC]
  • CACNG2:calcium voltage-gated channel auxiliary subunit gamma 2 [Gene - OMIM - HGNC]
  • CACNA1I:calcium voltage-gated channel subunit alpha1 I [Gene - OMIM - HGNC]
  • CPT1B:carnitine palmitoyltransferase 1B [Gene - OMIM - HGNC]
  • CSNK1E:casein kinase 1 epsilon [Gene - OMIM - HGNC]
  • CARD10:caspase recruitment domain family member 10 [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]
  • CENPM:centromere protein M [Gene - OMIM - HGNC]
  • CERK:ceramide kinase [Gene - OMIM - HGNC]
  • CCT8L2:chaperonin containing TCP1 subunit 8 like 2 [Gene - HGNC]
  • CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]
  • CBY1:chibby family member 1, beta catenin antagonist [Gene - OMIM - HGNC]
  • CHKB:choline kinase beta [Gene - OMIM - HGNC]
  • CHADL:chondroadherin like [Gene - OMIM - HGNC]
  • CBX6:chromobox 6 [Gene - OMIM - HGNC]
  • CBX7:chromobox 7 [Gene - OMIM - HGNC]
  • C22orf15:chromosome 22 open reading frame 15 [Gene - HGNC]
  • C22orf23:chromosome 22 open reading frame 23 [Gene - HGNC]
  • C22orf24:chromosome 22 open reading frame 24 [Gene - HGNC]
  • C22orf31:chromosome 22 open reading frame 31 [Gene - HGNC]
  • C22orf39:chromosome 22 open reading frame 39 [Gene - HGNC]
  • C22orf42:chromosome 22 open reading frame 42 [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]
  • CCDC117:coiled-coil domain containing 117 [Gene - HGNC]
  • CCDC134:coiled-coil domain containing 134 [Gene - HGNC]
  • CCDC157:coiled-coil domain containing 157 [Gene - HGNC]
  • CHCHD10:coiled-coil-helix-coiled-coil-helix domain containing 10 [Gene - OMIM - HGNC]
  • CSDC2:cold shock domain containing C2 [Gene - OMIM - HGNC]
  • CSF2RB:colony stimulating factor 2 receptor subunit beta [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]
  • 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]
  • CYTH4:cytohesin 4 [Gene - OMIM - HGNC]
  • CASTOR1:cytosolic arginine sensor for mTORC1 subunit 1 [Gene - OMIM - HGNC]
  • DERL3:derlin 3 [Gene - OMIM - HGNC]
  • DESI1:desumoylating isopeptidase 1 [Gene - OMIM - HGNC]
  • DRG1:developmentally regulated GTP binding protein 1 [Gene - OMIM - HGNC]
  • DUSP18:dual specificity phosphatase 18 [Gene - OMIM - HGNC]
  • DNAL4:dynein axonemal light chain 4 [Gene - OMIM - HGNC]
  • ESS2:ess-2 splicing factor homolog [Gene - OMIM - HGNC]
  • EIF3D:eukaryotic translation initiation factor 3 subunit D [Gene - OMIM - HGNC]
  • EIF3L:eukaryotic translation initiation factor 3 subunit L [Gene - HGNC]
  • EIF4ENIF1:eukaryotic translation initiation factor 4E nuclear import factor 1 [Gene - OMIM - HGNC]
  • ELFN2:extracellular leucine rich repeat and fibronectin type III domain containing 2 [Gene - HGNC]
  • FAM118A:family with sequence similarity 118 member A [Gene - HGNC]
  • FAM227A:family with sequence similarity 227 member A [Gene - HGNC]
  • FAM230A:family with sequence similarity 230 member A [Gene - HGNC]
  • FAM83F:family with sequence similarity 83 member F [Gene - HGNC]
  • FBLN1:fibulin 1 [Gene - OMIM - HGNC]
  • GAL3ST1:galactose-3-O-sulfotransferase 1 [Gene - OMIM - HGNC]
  • GALR3:galanin receptor 3 [Gene - OMIM - HGNC]
  • LGALS1:galectin 1 [Gene - OMIM - HGNC]
  • LGALS2:galectin 2 [Gene - OMIM - HGNC]
  • GGT1:gamma-glutamyltransferase 1 [Gene - OMIM - HGNC]
  • GGT2:gamma-glutamyltransferase 2 [Gene - OMIM - HGNC]
  • GGT5:gamma-glutamyltransferase 5 [Gene - OMIM - HGNC]
  • GGTLC2:gamma-glutamyltransferase light chain 2 [Gene - OMIM - HGNC]
  • GGTLC3:gamma-glutamyltransferase light chain family member 3 [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/pseudogene) [Gene - HGNC]
  • GCAT:glycine C-acetyltransferase [Gene - OMIM - HGNC]
  • GP1BB:glycoprotein Ib platelet subunit beta [Gene - OMIM - HGNC]
  • GGA1:golgi associated, gamma adaptin ear containing, ARF binding protein 1 [Gene - OMIM - HGNC]
  • GSC2:goosecoid homeobox 2 [Gene - OMIM - HGNC]
  • GAS2L1:growth arrest specific 2 like 1 [Gene - OMIM - HGNC]
  • GUCD1:guanylyl cyclase domain containing 1 [Gene - HGNC]
  • HDHD5:haloacid dehalogenase like hydrolase domain containing 5 [Gene - HGNC]
  • HMOX1:heme oxygenase 1 [Gene - OMIM - HGNC]
  • HIRA:histone cell cycle regulator [Gene - OMIM - HGNC]
  • HDAC10:histone deacetylase 10 [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]
  • IL17RA:interleukin 17 receptor A [Gene - OMIM - HGNC]
  • IL17REL:interleukin 17 receptor E like [Gene - OMIM - HGNC]
  • IL2RB:interleukin 2 receptor subunit beta [Gene - OMIM - HGNC]
  • ISX:intestine specific homeobox [Gene - OMIM - HGNC]
  • IFT27:intraflagellar transport 27 [Gene - OMIM - HGNC]
  • KLHDC7B:kelch domain containing 7B [Gene - HGNC]
  • KLHL22:kelch like family member 22 [Gene - OMIM - HGNC]
  • KREMEN1:kringle containing transmembrane protein 1 [Gene - OMIM - HGNC]
  • LRRC75B:leucine rich repeat containing 75B [Gene - HGNC]
  • LZTR1:leucine zipper like transcription regulator 1 [Gene - OMIM - HGNC]
  • LMF2:lipase maturation factor 2 [Gene - HGNC]
  • MIF:macrophage migration inhibitory factor [Gene - OMIM - HGNC]
  • MCAT:malonyl-CoA-acyl carrier protein transacylase [Gene - OMIM - HGNC]
  • MMP11:matrix metallopeptidase 11 [Gene - OMIM - HGNC]
  • MED15:mediator complex subunit 15 [Gene - OMIM - HGNC]
  • MEI1:meiotic double-stranded break formation protein 1 [Gene - OMIM - HGNC]
  • MCHR1:melanin concentrating hormone receptor 1 [Gene - OMIM - HGNC]
  • MPST:mercaptopyruvate sulfurtransferase [Gene - OMIM - HGNC]
  • MPPED1:metallophosphoesterase domain containing 1 [Gene - OMIM - HGNC]
  • MIR130B:microRNA 130b [Gene - OMIM - HGNC]
  • MIR33A:microRNA 33a [Gene - OMIM - HGNC]
  • MIR659:microRNA 659 [Gene - OMIM - HGNC]
  • MIRLET7A3:microRNA let-7a-3 [Gene - OMIM - HGNC]
  • MIRLET7B:microRNA let-7b [Gene - OMIM - HGNC]
  • MICAL3:microtubule associated monooxygenase, calponin and LIM domain containing 3 [Gene - OMIM - HGNC]
  • MCM5:minichromosome maintenance complex component 5 [Gene - OMIM - HGNC]
  • MIEF1:mitochondrial elongation factor 1 [Gene - OMIM - HGNC]
  • MTFP1:mitochondrial fission process 1 [Gene - OMIM - HGNC]
  • MRPL40:mitochondrial ribosomal protein L40 [Gene - OMIM - HGNC]
  • MAPK11:mitogen-activated protein kinase 11 [Gene - OMIM - HGNC]
  • MAPK12:mitogen-activated protein kinase 12 [Gene - OMIM - HGNC]
  • MAPK1:mitogen-activated protein kinase 1 [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]
  • MIAT:myocardial infarction associated transcript [Gene - OMIM - HGNC]
  • MRTFA:myocardin related transcription factor A [Gene - OMIM - HGNC]
  • MB:myoglobin [Gene - OMIM - HGNC]
  • MYO18B:myosin XVIIIB [Gene - OMIM - HGNC]
  • MYH9:myosin heavy chain 9 [Gene - OMIM - HGNC]
  • MTMR3:myotubularin related protein 3 [Gene - OMIM - HGNC]
  • NF2:neurofibromin 2 [Gene - OMIM - HGNC]
  • NEFH:neurofilament heavy [Gene - OMIM - HGNC]
  • NPTXR:neuronal pentraxin receptor [Gene - OMIM - HGNC]
  • NCF4:neutrophil cytosolic factor 4 [Gene - OMIM - HGNC]
  • NIPSNAP1:nipsnap homolog 1 [Gene - OMIM - HGNC]
  • NCAPH2:non-SMC condensin II complex subunit H2 [Gene - OMIM - HGNC]
  • NOL12:nucleolar protein 12 [Gene - HGNC]
  • NUP50:nucleoporin 50 [Gene - OMIM - HGNC]
  • OR11H1:olfactory receptor family 11 subfamily H member 1 [Gene - HGNC]
  • OSM:oncostatin M [Gene - OMIM - HGNC]
  • ODF3B:outer dense fiber of sperm tails 3B [Gene - HGNC]
  • OSBP2:oxysterol binding protein 2 [Gene - OMIM - HGNC]
  • PANX2:pannexin 2 [Gene - OMIM - HGNC]
  • PVALB:parvalbumin [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]
  • PPIL2:peptidylprolyl isomerase like 2 [Gene - OMIM - HGNC]
  • PEX26:peroxisomal biogenesis factor 26 [Gene - OMIM - HGNC]
  • PPARA:peroxisome proliferator activated receptor alpha [Gene - OMIM - HGNC]
  • PES1:pescadillo ribosomal biogenesis factor 1 [Gene - OMIM - HGNC]
  • PI4KA:phosphatidylinositol 4-kinase alpha [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 - HGNC]
  • PLA2G3:phospholipase A2 group III [Gene - OMIM - HGNC]
  • PLA2G6:phospholipase A2 group VI [Gene - OMIM - HGNC]
  • PMM1:phosphomannomutase 1 [Gene - OMIM - HGNC]
  • PIWIL3:piwi like RNA-mediated gene silencing 3 [Gene - OMIM - HGNC]
  • PDGFB:platelet derived growth factor subunit B [Gene - OMIM - HGNC]
  • PLXNB2:plexin B2 [Gene - OMIM - HGNC]
  • PKDREJ:polycystin family receptor for egg jelly [Gene - OMIM - HGNC]
  • KCTD17:potassium channel tetramerization domain containing 17 [Gene - OMIM - HGNC]
  • KCNJ4:potassium inwardly rectifying channel subfamily J member 4 [Gene - OMIM - HGNC]
  • PRAME:preferentially expressed antigen in melanoma [Gene - OMIM - HGNC]
  • PRODH:proline dehydrogenase 1 [Gene - OMIM - HGNC]
  • PRR14L:proline rich 14 like [Gene - HGNC]
  • PRR5:proline rich 5 [Gene - OMIM - HGNC]
  • PICK1:protein interacting with PRKCA 1 [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]
  • PPM1F:protein phosphatase, Mg2+/Mn2+ dependent 1F [Gene - HGNC]
  • P2RX6:purinergic receptor P2X 6 [Gene - OMIM - HGNC]
  • PDXP:pyridoxal phosphatase [Gene - OMIM - 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]
  • RTN4R:reticulon 4 receptor [Gene - OMIM - HGNC]
  • RTL10:retrotransposon Gag like 10 [Gene - HGNC]
  • RTL6:retrotransposon Gag like 6 [Gene - HGNC]
  • RHBDD3:rhomboid domain containing 3 [Gene - HGNC]
  • RRP7A:ribosomal RNA processing 7 homolog A [Gene - HGNC]
  • RPL3:ribosomal protein L3 [Gene - OMIM - HGNC]
  • RPS19BP1:ribosomal protein S19 binding protein 1 [Gene - OMIM - HGNC]
  • RNF185:ring finger protein 185 [Gene - HGNC]
  • RNF215:ring finger protein 215 [Gene - HGNC]
  • RBX1:ring-box 1 [Gene - OMIM - HGNC]
  • SCARF2:scavenger receptor class F member 2 [Gene - OMIM - HGNC]
  • SEZ6L:seizure related 6 homolog like [Gene - OMIM - HGNC]
  • SELENOM:selenoprotein M [Gene - OMIM - HGNC]
  • SELENOO:selenoprotein O [Gene - OMIM - HGNC]
  • SEPTIN3:septin 3 [Gene - OMIM - HGNC]
  • SEPTIN5:septin 5 [Gene - OMIM - HGNC]
  • SERHL2:serine hydrolase like 2 [Gene - HGNC]
  • SERPIND1:serpin family D member 1 [Gene - OMIM - HGNC]
  • SHISA8:shisa family member 8 [Gene - OMIM - HGNC]
  • SHISAL1:shisa like 1 [Gene - 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]
  • SGSM1:small G protein signaling modulator 1 [Gene - OMIM - HGNC]
  • SGSM3:small G protein signaling modulator 3 [Gene - OMIM - HGNC]
  • SNU13:small nuclear ribonucleoprotein 13 [Gene - OMIM - HGNC]
  • SNRPD3:small nuclear ribonucleoprotein D3 polypeptide [Gene - OMIM - HGNC]
  • SNORD139:small nucleolar RNA, C/D box 139 [Gene - OMIM - HGNC]
  • SNORD43:small nucleolar RNA, C/D box 43 [Gene - OMIM - HGNC]
  • SNORD83A:small nucleolar RNA, C/D box 83A [Gene - OMIM - HGNC]
  • SNORD83B:small nucleolar RNA, C/D box 83B [Gene - OMIM - HGNC]
  • SMTN:smoothelin [Gene - OMIM - HGNC]
  • SLC16A8:solute carrier family 16 member 8 [Gene - OMIM - HGNC]
  • SLC2A11:solute carrier family 2 member 11 [Gene - OMIM - HGNC]
  • SLC25A17:solute carrier family 25 member 17 [Gene - OMIM - HGNC]
  • SLC25A18:solute carrier family 25 member 18 [Gene - OMIM - HGNC]
  • SLC25A1:solute carrier family 25 member 1 [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]
  • SLC7A4:solute carrier family 7 member 4 [Gene - OMIM - HGNC]
  • SSTR3:somatostatin receptor 3 [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]
  • SREBF2:sterol regulatory element binding transcription factor 2 [Gene - OMIM - HGNC]
  • SDF2L1:stromal cell derived factor 2 like 1 [Gene - OMIM - HGNC]
  • SMC1B:structural maintenance of chromosomes 1B [Gene - OMIM - HGNC]
  • SULT4A1:sulfotransferase family 4A member 1 [Gene - OMIM - HGNC]
  • SUSD2:sushi domain containing 2 [Gene - OMIM - HGNC]
  • SYN3:synapsin III [Gene - OMIM - HGNC]
  • SYNGR1:synaptogyrin 1 [Gene - OMIM - HGNC]
  • SYCE3:synaptonemal complex central element protein 3 [Gene - OMIM - HGNC]
  • SNAP29:synaptosome associated protein 29 [Gene - OMIM - HGNC]
  • SCO2:synthesis of cytochrome C oxidase 2 [Gene - OMIM - HGNC]
  • TRMU:tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase [Gene - OMIM - HGNC]
  • TRMT2A:tRNA methyltransferase 2 homolog A [Gene - OMIM - HGNC]
  • TOM1:target of myb1 membrane trafficking protein [Gene - OMIM - HGNC]
  • TUG1:taurine up-regulated 1 [Gene - OMIM - HGNC]
  • TEX33:testis expressed 33 [Gene - HGNC]
  • TSSK2:testis specific serine kinase 2 [Gene - OMIM - HGNC]
  • TTC28:tetratricopeptide repeat domain 28 [Gene - OMIM - HGNC]
  • TTC38:tetratricopeptide repeat domain 38 [Gene - HGNC]
  • TXN2:thioredoxin 2 [Gene - OMIM - HGNC]
  • TXNRD2:thioredoxin reductase 2 [Gene - OMIM - HGNC]
  • TST:thiosulfate sulfurtransferase [Gene - OMIM - HGNC]
  • TYMP:thymidine phosphorylase [Gene - OMIM - HGNC]
  • TCN2:transcobalamin 2 [Gene - OMIM - HGNC]
  • TCF20:transcription factor 20 [Gene - OMIM - HGNC]
  • TOB2:transducer of ERBB2, 2 [Gene - OMIM - HGNC]
  • TOMM22:translocase of outer mitochondrial membrane 22 [Gene - OMIM - HGNC]
  • TSPO:translocator protein [Gene - OMIM - HGNC]
  • TMEM121B:transmembrane protein 121B [Gene - HGNC]
  • TMEM184B:transmembrane protein 184B [Gene - HGNC]
  • TMEM191B:transmembrane protein 191B [Gene - HGNC]
  • TMEM191C:transmembrane protein 191C [Gene - HGNC]
  • TMEM211:transmembrane protein 211 [Gene - HGNC]
  • TMPRSS6:transmembrane serine protease 6 [Gene - OMIM - HGNC]
  • TANGO2:transport and golgi organization 2 homolog [Gene - OMIM - HGNC]
  • TNRC6B:trinucleotide repeat containing adaptor 6B [Gene - OMIM - HGNC]
  • TUBA8:tubulin alpha 8 [Gene - OMIM - HGNC]
  • TUBGCP6:tubulin gamma complex associated protein 6 [Gene - OMIM - HGNC]
  • TTLL12:tubulin tyrosine ligase like 12 [Gene - HGNC]
  • TTLL1:tubulin tyrosine ligase like 1 [Gene - OMIM - HGNC]
  • TTLL8:tubulin tyrosine ligase like 8 [Gene - 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]
  • 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]
  • UPK3A:uroplakin 3A [Gene - OMIM - HGNC]
  • YPEL1:yippee like 1 [Gene - OMIM - HGNC]
  • ZNRF3:zinc and ring finger 3 [Gene - OMIM - HGNC]
  • ZBED4:zinc finger BED-type containing 4 [Gene - OMIM - HGNC]
  • ZC3H7B:zinc finger CCCH-type containing 7B [Gene - OMIM - HGNC]
  • ZDHHC8:zinc finger DHHC-type palmitoyltransferase 8 [Gene - OMIM - HGNC]
  • ZMAT5:zinc finger matrin-type 5 [Gene - HGNC]
  • ZNF280A:zinc finger protein 280A [Gene - HGNC]
  • ZNF280B:zinc finger protein 280B [Gene - HGNC]
  • ZNF70:zinc finger protein 70 [Gene - OMIM - HGNC]
  • ZNF74:zinc finger protein 74 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
22q11.1-13.33
Genomic location:
Chr22: 16054691 - 51237463 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3
HGVS:
    Links:
    dbVar: nssv13650022; dbVar: nsv2776228
    Observations:
    1

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000500628ISCA site 6

    See additional submitters

    no assertion criteria providedPathogenicnot providedclinical testing

    PubMed (1)
    [See all records that cite this PMID]

    Description

    Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

    SCV000500628

    Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/].

    SCV000500628

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providednot providedyes1not providednot providednot providednot providedclinical testing

    Citations

    PubMed

    Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

    Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

    Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

    PubMed [citation]
    PMID:
    20466091
    PMCID:
    PMC2869000

    Details of each submission

    From ISCA site 6, SCV000500628.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1not providedyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: Jan 11, 2020

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