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GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 AND not specified

Germline classification:
Likely pathogenic (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003986944.1

Allele description [Variation Report for GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3]

GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3

Genes:
  • ARL2:ADP ribosylation factor like GTPase 2 [Gene - OMIM - HGNC]
  • AHNAK:AHNAK nucleoprotein [Gene - OMIM - HGNC]
  • BAD:BCL2 associated agonist of cell death [Gene - OMIM - HGNC]
  • BRMS1:BRMS1 transcriptional repressor and anoikis regulator [Gene - OMIM - HGNC]
  • BSCL2:BSCL2 lipid droplet biogenesis associated, seipin [Gene - OMIM - HGNC]
  • BTBD18:BTB domain containing 18 [Gene - HGNC]
  • BBS1:Bardet-Biedl syndrome 1 [Gene - OMIM - HGNC]
  • CD248:CD248 molecule [Gene - OMIM - HGNC]
  • CD5:CD5 molecule [Gene - OMIM - HGNC]
  • CD6:CD6 molecule [Gene - OMIM - HGNC]
  • CDC42BPG:CDC42 binding protein kinase gamma [Gene - OMIM - HGNC]
  • CDC42EP2:CDC42 effector protein 2 [Gene - OMIM - HGNC]
  • POLA2:DNA polymerase alpha 2, accessory subunit [Gene - OMIM - HGNC]
  • POLD4:DNA polymerase delta 4, accessory subunit [Gene - OMIM - HGNC]
  • DRAP1:DR1 associated protein 1 [Gene - OMIM - HGNC]
  • DNAJC4:DnaJ heat shock protein family (Hsp40) member C4 [Gene - OMIM - HGNC]
  • EFEMP2:EGF containing fibulin extracellular matrix protein 2 [Gene - OMIM - HGNC]
  • EHBP1L1:EH domain binding protein 1 like 1 [Gene - OMIM - HGNC]
  • EHD1:EH domain containing 1 [Gene - OMIM - HGNC]
  • EML3:EMAP like 3 [Gene - OMIM - HGNC]
  • FAM111A:FAM111 trypsin like peptidase A [Gene - OMIM - HGNC]
  • FAM111B:FAM111 trypsin like peptidase B [Gene - OMIM - HGNC]
  • FAU:FAU ubiquitin like and ribosomal protein S30 fusion [Gene - OMIM - HGNC]
  • FRMD8:FERM domain containing 8 [Gene - OMIM - HGNC]
  • FERMT3:FERM domain containing kindlin 3 [Gene - OMIM - HGNC]
  • FIBP:FGF1 intracellular binding protein [Gene - OMIM - HGNC]
  • FKBP2:FKBP prolyl isomerase 2 [Gene - OMIM - HGNC]
  • FOSL1:FOS like 1, AP-1 transcription factor subunit [Gene - OMIM - HGNC]
  • GNG3:G protein subunit gamma 3 [Gene - OMIM - HGNC]
  • GPR137:G protein-coupled receptor 137 [Gene - HGNC]
  • GPR152:G protein-coupled receptor 152 [Gene - HGNC]
  • GRK2:G protein-coupled receptor kinase 2 [Gene - OMIM - HGNC]
  • LBHD1:LBH domain containing 1 [Gene - HGNC]
  • LRP5:LDL receptor related protein 5 [Gene - OMIM - HGNC]
  • LRRN4CL:LRRN4 C-terminal like [Gene - HGNC]
  • MRGPRD:MAS related GPR family member D [Gene - OMIM - HGNC]
  • MRGPRF:MAS related GPR family member F [Gene - OMIM - HGNC]
  • MUS81:MUS81 structure-specific endonuclease subunit [Gene - OMIM - HGNC]
  • NAALADL1:N-acetylated alpha-linked acidic dipeptidase like 1 [Gene - OMIM - HGNC]
  • NAA40:N-alpha-acetyltransferase 40, NatD catalytic subunit [Gene - OMIM - HGNC]
  • NDUFS8:NADH:ubiquinone oxidoreductase core subunit S8 [Gene - OMIM - HGNC]
  • NDUFV1:NADH:ubiquinone oxidoreductase core subunit V1 [Gene - OMIM - HGNC]
  • NDUFV1-DT:NDUFV1 divergent transcript [Gene - HGNC]
  • OTUB1:OTU deubiquitinase, ubiquitin aldehyde binding 1 [Gene - OMIM - HGNC]
  • PATL1:PAT1 homolog 1, processing body mRNA decay factor [Gene - OMIM - HGNC]
  • RAB1B:RAB1B, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB3IL1:RAB3A interacting protein like 1 [Gene - HGNC]
  • RAD9A:RAD9 checkpoint clamp component A [Gene - OMIM - HGNC]
  • RASGRP2:RAS guanyl releasing protein 2 [Gene - OMIM - HGNC]
  • RBM14-RBM4:RBM14-RBM4 readthrough [Gene - HGNC]
  • RELA:RELA proto-oncogene, NF-kB subunit [Gene - OMIM - HGNC]
  • RCOR2:REST corepressor 2 [Gene - OMIM - HGNC]
  • RBM14:RNA binding motif protein 14 [Gene - OMIM - HGNC]
  • RBM4:RNA binding motif protein 4 [Gene - OMIM - HGNC]
  • RBM4B:RNA binding motif protein 4B [Gene - HGNC]
  • POLR2G:RNA polymerase II subunit G [Gene - OMIM - HGNC]
  • RIN1:Ras and Rab interactor 1 [Gene - OMIM - HGNC]
  • RCE1:Ras converting CAAX endopeptidase 1 [Gene - OMIM - HGNC]
  • SAC3D1:SAC3 domain containing 1 [Gene - OMIM - HGNC]
  • SCYL1:SCY1 like pseudokinase 1 [Gene - OMIM - HGNC]
  • TCIRG1:T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 [Gene - OMIM - HGNC]
  • TBX10:T-box transcription factor 10 [Gene - OMIM - HGNC]
  • TAF6L:TATA-box binding protein associated factor 6 like [Gene - OMIM - HGNC]
  • TBC1D10C:TBC1 domain family member 10C [Gene - OMIM - HGNC]
  • TOP6BL:TOP6B like initiator of meiotic double strand breaks [Gene - OMIM - HGNC]
  • UBXN1:UBX domain protein 1 [Gene - OMIM - HGNC]
  • VPS37C:VPS37C subunit of ESCRT-I [Gene - OMIM - HGNC]
  • VPS51:VPS51 subunit of GARP complex [Gene - OMIM - HGNC]
  • WDR74:WD repeat domain 74 [Gene - OMIM - HGNC]
  • YIF1A:Yip1 interacting factor homolog A, membrane trafficking protein [Gene - OMIM - HGNC]
  • ZFP91:ZFP91 zinc finger protein, atypical E3 ubiquitin ligase [Gene - OMIM - HGNC]
  • ACTN3:actinin alpha 3 [Gene - OMIM - HGNC]
  • AP5B1:adaptor related protein complex 5 subunit beta 1 [Gene - OMIM - HGNC]
  • ALDH3B1:aldehyde dehydrogenase 3 family member B1 [Gene - OMIM - HGNC]
  • ALDH3B2:aldehyde dehydrogenase 3 family member B2 [Gene - OMIM - HGNC]
  • ACY3:aminoacylase 3 [Gene - OMIM - HGNC]
  • ANKRD13D:ankyrin repeat domain 13D [Gene - OMIM - HGNC]
  • APLNR:apelin receptor [Gene - OMIM - HGNC]
  • AIP:aryl hydrocarbon receptor interacting protein [Gene - OMIM - HGNC]
  • ASRGL1:asparaginase and isoaspartyl peptidase 1 [Gene - OMIM - HGNC]
  • ATL3:atlastin GTPase 3 [Gene - OMIM - HGNC]
  • ATG2A:autophagy related 2A [Gene - OMIM - HGNC]
  • BANF1:barrier to autointegration nuclear assembly factor 1 [Gene - OMIM - HGNC]
  • BATF2:basic leucine zipper ATF-like transcription factor 2 [Gene - OMIM - HGNC]
  • BEST1:bestrophin 1 [Gene - OMIM - HGNC]
  • B3GAT3:beta-1,3-glucuronyltransferase 3 [Gene - OMIM - HGNC]
  • B4GAT1:beta-1,4-glucuronyltransferase 1 [Gene - OMIM - HGNC]
  • CABP2:calcium binding protein 2 [Gene - OMIM - HGNC]
  • CABP4:calcium binding protein 4 [Gene - OMIM - HGNC]
  • CAPN1:calpain 1 [Gene - OMIM - HGNC]
  • CLCF1:cardiotrophin like cytokine factor 1 [Gene - OMIM - HGNC]
  • CPT1A:carnitine palmitoyltransferase 1A [Gene - OMIM - HGNC]
  • CARNS1:carnosine synthase 1 [Gene - OMIM - HGNC]
  • CTNND1:catenin delta 1 [Gene - OMIM - HGNC]
  • CTSF:cathepsin F [Gene - OMIM - HGNC]
  • CTSW:cathepsin W [Gene - OMIM - HGNC]
  • CATSPER1:cation channel sperm associated 1 [Gene - OMIM - HGNC]
  • CATSPERZ:catsper channel auxiliary subunit zeta [Gene - OMIM - HGNC]
  • CDCA5:cell division cycle associated 5 [Gene - OMIM - HGNC]
  • CHKA:choline kinase alpha [Gene - OMIM - HGNC]
  • CHRM1:cholinergic receptor muscarinic 1 [Gene - OMIM - HGNC]
  • C11orf24:chromosome 11 open reading frame 24 [Gene - OMIM - HGNC]
  • C11orf68:chromosome 11 open reading frame 68 [Gene - HGNC]
  • C11orf86:chromosome 11 open reading frame 86 [Gene - HGNC]
  • CNTF:ciliary neurotrophic factor [Gene - OMIM - HGNC]
  • CSKMT:citrate synthase lysine methyltransferase [Gene - OMIM - HGNC]
  • CPSF7:cleavage and polyadenylation specific factor 7 [Gene - HGNC]
  • CLP1:cleavage factor polyribonucleotide kinase subunit 1 [Gene - OMIM - HGNC]
  • CBLIF:cobalamin binding intrinsic factor [Gene - OMIM - HGNC]
  • CFL1:cofilin 1 [Gene - OMIM - HGNC]
  • CCDC85B:coiled-coil domain containing 85B [Gene - OMIM - HGNC]
  • CCDC86:coiled-coil domain containing 86 [Gene - OMIM - HGNC]
  • CCDC87:coiled-coil domain containing 87 [Gene - HGNC]
  • CCDC88B:coiled-coil domain containing 88B [Gene - OMIM - HGNC]
  • CCS:copper chaperone for superoxide dismutase [Gene - OMIM - HGNC]
  • CNIH2:cornichon family AMPA receptor auxiliary protein 2 [Gene - OMIM - HGNC]
  • CORO1B:coronin 1B [Gene - OMIM - HGNC]
  • CDK2AP2:cyclin dependent kinase 2 associated protein 2 [Gene - OMIM - HGNC]
  • CST6:cystatin E/M [Gene - OMIM - HGNC]
  • CYB561A3:cytochrome b561 family member A3 [Gene - OMIM - HGNC]
  • COX8A:cytochrome c oxidase subunit 8A [Gene - OMIM - HGNC]
  • DDB1:damage specific DNA binding protein 1 [Gene - OMIM - HGNC]
  • DTX4:deltex E3 ubiquitin ligase 4 [Gene - OMIM - HGNC]
  • DAGLA:diacylglycerol lipase alpha [Gene - OMIM - HGNC]
  • DPP3:dipeptidyl peptidase 3 [Gene - OMIM - HGNC]
  • DPF2:double PHD fingers 2 [Gene - OMIM - HGNC]
  • ESRRA:estrogen related receptor alpha [Gene - OMIM - HGNC]
  • EEF1G:eukaryotic translation elongation factor 1 gamma [Gene - OMIM - HGNC]
  • EIF1AD:eukaryotic translation initiation factor 1A domain containing [Gene - OMIM - HGNC]
  • FAM89B:family with sequence similarity 89 member B [Gene - OMIM - HGNC]
  • FADS1:fatty acid desaturase 1 [Gene - OMIM - HGNC]
  • FADS2:fatty acid desaturase 2 [Gene - OMIM - HGNC]
  • FADS3:fatty acid desaturase 3 [Gene - OMIM - HGNC]
  • FTH1:ferritin heavy chain 1 [Gene - OMIM - HGNC]
  • FLRT1:fibronectin leucine rich transmembrane protein 1 [Gene - OMIM - HGNC]
  • FEN1:flap structure-specific endonuclease 1 [Gene - OMIM - HGNC]
  • GAL3ST3:galactose-3-O-sulfotransferase 3 [Gene - OMIM - HGNC]
  • GAL:galanin and GMAP prepropeptide [Gene - OMIM - HGNC]
  • LGALS12:galectin 12 [Gene - OMIM - HGNC]
  • GANAB:glucosidase II alpha subunit [Gene - OMIM - HGNC]
  • GSTP1:glutathione S-transferase pi 1 [Gene - OMIM - HGNC]
  • GLYATL1:glycine-N-acyltransferase like 1 [Gene - OMIM - HGNC]
  • GLYATL2:glycine-N-acyltransferase like 2 [Gene - OMIM - HGNC]
  • GLYAT:glycine-N-acyltransferase [Gene - OMIM - HGNC]
  • PYGM:glycogen phosphorylase, muscle associated [Gene - OMIM - HGNC]
  • GPHA2:glycoprotein hormone subunit alpha 2 [Gene - OMIM - HGNC]
  • HNRNPUL2:heterogeneous nuclear ribonucleoprotein U like 2 [Gene - HGNC]
  • IGHMBP2:immunoglobulin mu DNA binding protein 2 [Gene - OMIM - HGNC]
  • INCENP:inner centromere protein [Gene - OMIM - HGNC]
  • INTS5:integrator complex subunit 5 [Gene - OMIM - HGNC]
  • KLC2:kinesin light chain 2 [Gene - OMIM - HGNC]
  • LTBP3:latent transforming growth factor beta binding protein 3 [Gene - OMIM - HGNC]
  • LRFN4:leucine rich repeat and fibronectin type III domain containing 4 [Gene - OMIM - HGNC]
  • LRRC10B:leucine rich repeat containing 10B [Gene - HGNC]
  • LRRC55:leucine rich repeat containing 55 [Gene - OMIM - HGNC]
  • LPXN:leupaxin [Gene - OMIM - HGNC]
  • KAT5:lysine acetyltransferase 5 [Gene - OMIM - HGNC]
  • KDM2A:lysine demethylase 2A [Gene - OMIM - HGNC]
  • KMT5B:lysine methyltransferase 5B [Gene - OMIM - HGNC]
  • MPEG1:macrophage expressed 1 [Gene - OMIM - HGNC]
  • MED19:mediator complex subunit 19 [Gene - OMIM - HGNC]
  • MAJIN:membrane anchored junction protein [Gene - OMIM - HGNC]
  • MS4A10:membrane spanning 4-domains A10 [Gene - OMIM - HGNC]
  • MS4A12:membrane spanning 4-domains A12 [Gene - OMIM - HGNC]
  • MS4A13:membrane spanning 4-domains A13 [Gene - HGNC]
  • MS4A14:membrane spanning 4-domains A14 [Gene - HGNC]
  • MS4A15:membrane spanning 4-domains A15 [Gene - HGNC]
  • MS4A18:membrane spanning 4-domains A18 [Gene - HGNC]
  • MS4A1:membrane spanning 4-domains A1 [Gene - OMIM - HGNC]
  • MS4A2:membrane spanning 4-domains A2 [Gene - OMIM - HGNC]
  • MS4A3:membrane spanning 4-domains A3 [Gene - OMIM - HGNC]
  • MS4A4A:membrane spanning 4-domains A4A [Gene - OMIM - HGNC]
  • MS4A4E:membrane spanning 4-domains A4E [Gene - OMIM - HGNC]
  • MS4A5:membrane spanning 4-domains A5 [Gene - OMIM - HGNC]
  • MS4A6A:membrane spanning 4-domains A6A [Gene - OMIM - HGNC]
  • MS4A6E:membrane spanning 4-domains A6E [Gene - OMIM - HGNC]
  • MS4A7:membrane spanning 4-domains A7 [Gene - OMIM - HGNC]
  • MS4A8:membrane spanning 4-domains A8 [Gene - OMIM - HGNC]
  • MEN1:menin 1 [Gene - OMIM - HGNC]
  • MTA2:metastasis associated 1 family member 2 [Gene - OMIM - HGNC]
  • MALAT1:metastasis associated lung adenocarcinoma transcript 1 [Gene - OMIM - HGNC]
  • MIR130A:microRNA 130a [Gene - OMIM - HGNC]
  • MIR192:microRNA 192 [Gene - OMIM - HGNC]
  • MIR194-2:microRNA 194-2 [Gene - OMIM - HGNC]
  • MARK2:microtubule affinity regulating kinase 2 [Gene - OMIM - HGNC]
  • MRPL11:mitochondrial ribosomal protein L11 [Gene - OMIM - HGNC]
  • MRPL16:mitochondrial ribosomal protein L16 [Gene - OMIM - HGNC]
  • MRPL21:mitochondrial ribosomal protein L21 [Gene - OMIM - HGNC]
  • MRPL49:mitochondrial ribosomal protein L49 [Gene - OMIM - HGNC]
  • MAP3K11:mitogen-activated protein kinase kinase kinase 11 [Gene - OMIM - HGNC]
  • MAP4K2:mitogen-activated protein kinase kinase kinase kinase 2 [Gene - OMIM - HGNC]
  • MACROD1:mono-ADP ribosylhydrolase 1 [Gene - OMIM - HGNC]
  • MYRF:myelin regulatory factor [Gene - OMIM - HGNC]
  • MYEOV:myeloma overexpressed [Gene - OMIM - HGNC]
  • NRXN2:neurexin 2 [Gene - OMIM - HGNC]
  • NPAS4:neuronal PAS domain protein 4 [Gene - OMIM - HGNC]
  • NXF1:nuclear RNA export factor 1 [Gene - OMIM - HGNC]
  • NEAT1:nuclear paraspeckle assembly transcript 1 [Gene - OMIM - HGNC]
  • NUDT22:nudix hydrolase 22 [Gene - HGNC]
  • NUDT8:nudix hydrolase 8 [Gene - HGNC]
  • OR1S1:olfactory receptor family 1 subfamily S member 1 [Gene - HGNC]
  • OR1S2:olfactory receptor family 1 subfamily S member 2 [Gene - HGNC]
  • OR10Q1:olfactory receptor family 10 subfamily Q member 1 [Gene - HGNC]
  • OR10V1:olfactory receptor family 10 subfamily V member 1 [Gene - HGNC]
  • OR10W1:olfactory receptor family 10 subfamily W member 1 [Gene - HGNC]
  • OR4D10:olfactory receptor family 4 subfamily D member 10 [Gene - HGNC]
  • OR4D11:olfactory receptor family 4 subfamily D member 11 [Gene - HGNC]
  • OR4D6:olfactory receptor family 4 subfamily D member 6 [Gene - HGNC]
  • OR4D9:olfactory receptor family 4 subfamily D member 9 [Gene - HGNC]
  • OR5A1:olfactory receptor family 5 subfamily A member 1 [Gene - HGNC]
  • OR5A2:olfactory receptor family 5 subfamily A member 2 [Gene - HGNC]
  • OR5AN1:olfactory receptor family 5 subfamily AN member 1 [Gene - OMIM - HGNC]
  • OR5B12:olfactory receptor family 5 subfamily B member 12 [Gene - HGNC]
  • OR5B17:olfactory receptor family 5 subfamily B member 17 [Gene - HGNC]
  • OR5B21:olfactory receptor family 5 subfamily B member 21 [Gene - HGNC]
  • OR5B2:olfactory receptor family 5 subfamily B member 2 [Gene - HGNC]
  • OR5B3:olfactory receptor family 5 subfamily B member 3 [Gene - HGNC]
  • OR6Q1:olfactory receptor family 6 subfamily Q member 1 [Gene - HGNC]
  • OR9I1:olfactory receptor family 9 subfamily I member 1 [Gene - OMIM - HGNC]
  • OR9Q1:olfactory receptor family 9 subfamily Q member 1 [Gene - HGNC]
  • OR9Q2:olfactory receptor family 9 subfamily Q member 2 [Gene - HGNC]
  • OOSP2:oocyte secreted protein 2 [Gene - OMIM - HGNC]
  • OVOL1:ovo like transcriptional repressor 1 [Gene - OMIM - HGNC]
  • OSBP:oxysterol binding protein [Gene - OMIM - HGNC]
  • PCNX3:pecanex 3 [Gene - OMIM - HGNC]
  • PELI3:pellino E3 ubiquitin protein ligase family member 3 [Gene - OMIM - HGNC]
  • PGA3:pepsinogen A3 [Gene - OMIM - HGNC]
  • PGA4:pepsinogen A4 [Gene - OMIM - HGNC]
  • PGA5:pepsinogen A5 [Gene - OMIM - HGNC]
  • PRDX5:peroxiredoxin 5 [Gene - OMIM - HGNC]
  • PITPNM1:phosphatidylinositol transfer protein membrane associated 1 [Gene - OMIM - HGNC]
  • PACS1:phosphofurin acidic cluster sorting protein 1 [Gene - OMIM - HGNC]
  • PLAAT2:phospholipase A and acyltransferase 2 [Gene - OMIM - HGNC]
  • PLAAT3:phospholipase A and acyltransferase 3 [Gene - OMIM - HGNC]
  • PLAAT4:phospholipase A and acyltransferase 4 [Gene - OMIM - HGNC]
  • PLAAT5:phospholipase A and acyltransferase 5 [Gene - OMIM - HGNC]
  • PLCB3:phospholipase C beta 3 [Gene - OMIM - HGNC]
  • KCNK4:potassium two pore domain channel subfamily K member 4 [Gene - OMIM - HGNC]
  • KCNK7:potassium two pore domain channel subfamily K member 7 [Gene - OMIM - HGNC]
  • PRPF19:pre-mRNA processing factor 19 [Gene - OMIM - HGNC]
  • PTGDR2:prostaglandin D2 receptor 2 [Gene - OMIM - HGNC]
  • PPP1CA:protein phosphatase 1 catalytic subunit alpha [Gene - OMIM - HGNC]
  • PPP1R14B:protein phosphatase 1 regulatory inhibitor subunit 14B [Gene - OMIM - HGNC]
  • PPP2R5B:protein phosphatase 2 regulatory subunit B'beta [Gene - OMIM - HGNC]
  • PPP6R3:protein phosphatase 6 regulatory subunit 3 [Gene - OMIM - HGNC]
  • PTPRCAP:protein tyrosine phosphatase receptor type C associated protein [Gene - OMIM - HGNC]
  • PRG2:proteoglycan 2, pro eosinophil major basic protein [Gene - OMIM - HGNC]
  • PRG3:proteoglycan 3, pro eosinophil major basic protein 2 [Gene - OMIM - HGNC]
  • P2RX3:purinergic receptor P2X 3 [Gene - OMIM - HGNC]
  • PC:pyruvate carboxylase [Gene - OMIM - HGNC]
  • RHOD:ras homolog family member D [Gene - OMIM - HGNC]
  • RTN3:reticulon 3 [Gene - OMIM - HGNC]
  • RTN4RL2:reticulon 4 receptor like 2 [Gene - OMIM - HGNC]
  • ROM1:retinal outer segment membrane protein 1 [Gene - OMIM - HGNC]
  • RNASEH2C:ribonuclease H2 subunit C [Gene - OMIM - HGNC]
  • RPS6KA4:ribosomal protein S6 kinase A4 [Gene - OMIM - HGNC]
  • RPS6KB2:ribosomal protein S6 kinase B2 [Gene - OMIM - HGNC]
  • SCGB1A1:secretoglobin family 1A member 1 [Gene - OMIM - HGNC]
  • SCGB1D1:secretoglobin family 1D member 1 [Gene - OMIM - HGNC]
  • SCGB1D2:secretoglobin family 1D member 2 [Gene - OMIM - HGNC]
  • SCGB1D4:secretoglobin family 1D member 4 [Gene - OMIM - HGNC]
  • SCGB2A1:secretoglobin family 2A member 1 [Gene - OMIM - HGNC]
  • SCGB2A2:secretoglobin family 2A member 2 [Gene - OMIM - HGNC]
  • SELENOH:selenoprotein H [Gene - OMIM - HGNC]
  • SERPING1:serpin family G member 1 [Gene - OMIM - HGNC]
  • SIPA1:signal-induced proliferation-associated 1 [Gene - OMIM - HGNC]
  • SSH3:slingshot protein phosphatase 3 [Gene - OMIM - HGNC]
  • SNHG1:small nucleolar RNA host gene 1 [Gene - OMIM - HGNC]
  • SNORD22:small nucleolar RNA, C/D box 22 [Gene - OMIM - HGNC]
  • SNORD25:small nucleolar RNA, C/D box 25 [Gene - OMIM - HGNC]
  • SNORD26:small nucleolar RNA, C/D box 26 [Gene - OMIM - HGNC]
  • SNORD27:small nucleolar RNA, C/D box 27 [Gene - OMIM - HGNC]
  • SNORD28:small nucleolar RNA, C/D box 28 [Gene - OMIM - HGNC]
  • SNORD29:small nucleolar RNA, C/D box 29 [Gene - OMIM - HGNC]
  • SNORD30:small nucleolar RNA, C/D box 30 [Gene - OMIM - HGNC]
  • SNORD31:small nucleolar RNA, C/D box 31 [Gene - OMIM - HGNC]
  • SMTNL1:smoothelin like 1 [Gene - OMIM - HGNC]
  • SLC15A3:solute carrier family 15 member 3 [Gene - OMIM - HGNC]
  • SLC22A10:solute carrier family 22 member 10 [Gene - OMIM - HGNC]
  • SLC22A11:solute carrier family 22 member 11 [Gene - OMIM - HGNC]
  • SLC22A12:solute carrier family 22 member 12 [Gene - OMIM - HGNC]
  • SLC22A24:solute carrier family 22 member 24 [Gene - OMIM - HGNC]
  • SLC22A25:solute carrier family 22 member 25 [Gene - OMIM - HGNC]
  • SLC22A6:solute carrier family 22 member 6 [Gene - OMIM - HGNC]
  • SLC22A8:solute carrier family 22 member 8 [Gene - OMIM - HGNC]
  • SLC22A9:solute carrier family 22 member 9 [Gene - OMIM - HGNC]
  • SLC25A45:solute carrier family 25 member 45 [Gene - OMIM - HGNC]
  • SLC29A2:solute carrier family 29 member 2 [Gene - OMIM - HGNC]
  • SLC3A2:solute carrier family 3 member 2 [Gene - OMIM - HGNC]
  • SLC43A1:solute carrier family 43 member 1 [Gene - OMIM - HGNC]
  • SLC43A3:solute carrier family 43 member 3 [Gene - OMIM - HGNC]
  • SNX15:sorting nexin 15 [Gene - OMIM - HGNC]
  • SNX32:sorting nexin 32 [Gene - HGNC]
  • SPTBN2:spectrin beta, non-erythrocytic 2 [Gene - OMIM - HGNC]
  • SPDYC:speedy/RINGO cell cycle regulator family member C [Gene - OMIM - HGNC]
  • SPINDOC:spindlin interactor and repressor of chromatin binding [Gene - HGNC]
  • SART1:spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP [Gene - OMIM - HGNC]
  • SF1:splicing factor 1 [Gene - OMIM - HGNC]
  • SF3B2:splicing factor 3b subunit 2 [Gene - OMIM - HGNC]
  • SAXO4:stabilizer of axonemal microtubules 4 [Gene - OMIM - HGNC]
  • STIP1:stress induced phosphoprotein 1 [Gene - OMIM - HGNC]
  • SSRP1:structure specific recognition protein 1 [Gene - OMIM - HGNC]
  • SDHAF2:succinate dehydrogenase complex assembly factor 2 [Gene - OMIM - HGNC]
  • SYT12:synaptotagmin 12 [Gene - OMIM - HGNC]
  • SYT7:synaptotagmin 7 [Gene - OMIM - HGNC]
  • SYVN1:synoviolin 1 [Gene - OMIM - HGNC]
  • STX3:syntaxin 3 [Gene - OMIM - HGNC]
  • STX5:syntaxin 5 [Gene - OMIM - HGNC]
  • TRMT112:tRNA methyltransferase activator subunit 11-2 [Gene - OMIM - HGNC]
  • TRPT1:tRNA phosphotransferase 1 [Gene - OMIM - HGNC]
  • TNKS1BP1:tankyrase 1 binding protein 1 [Gene - OMIM - HGNC]
  • TUT1:terminal uridylyl transferase 1, U6 snRNA-specific [Gene - OMIM - HGNC]
  • TESMIN:testis expressed metallothionein like protein [Gene - OMIM - HGNC]
  • TSGA10IP:testis specific 10 interacting protein [Gene - HGNC]
  • TTC9C:tetratricopeptide repeat domain 9C [Gene - HGNC]
  • TMX2:thioredoxin related transmembrane protein 2 [Gene - OMIM - HGNC]
  • TIGD3:tigger transposable element derived 3 [Gene - OMIM - HGNC]
  • TCN1:transcobalamin 1 [Gene - OMIM - HGNC]
  • TIMM10:translocase of inner mitochondrial membrane 10 [Gene - OMIM - HGNC]
  • TM7SF2:transmembrane 7 superfamily member 2 [Gene - OMIM - HGNC]
  • TMEM109:transmembrane protein 109 [Gene - OMIM - HGNC]
  • TMEM132A:transmembrane protein 132A [Gene - OMIM - HGNC]
  • TMEM134:transmembrane protein 134 [Gene - HGNC]
  • TMEM138:transmembrane protein 138 [Gene - OMIM - HGNC]
  • TMEM151A:transmembrane protein 151A [Gene - OMIM - HGNC]
  • TMEM179B:transmembrane protein 179B [Gene - HGNC]
  • TMEM216:transmembrane protein 216 [Gene - OMIM - HGNC]
  • TMEM223:transmembrane protein 223 [Gene - OMIM - HGNC]
  • TMEM258:transmembrane protein 258 [Gene - OMIM - HGNC]
  • TKFC:triokinase and FMN cyclase [Gene - OMIM - HGNC]
  • TPCN2:two pore segment channel 2 [Gene - OMIM - HGNC]
  • UQCC3:ubiquinol-cytochrome c reductase complex assembly factor 3 [Gene - OMIM - HGNC]
  • UBE2L6:ubiquitin conjugating enzyme E2 L6 [Gene - OMIM - HGNC]
  • UNC93B1:unc-93 homolog B1, TLR signaling regulator [Gene - OMIM - HGNC]
  • VEGFB:vascular endothelial growth factor B [Gene - OMIM - HGNC]
  • VWCE:von Willebrand factor C and EGF domains [Gene - OMIM - HGNC]
  • YPEL4:yippee like 4 [Gene - OMIM - HGNC]
  • ZDHHC24:zinc finger DHHC-type containing 24 [Gene - HGNC]
  • ZDHHC5:zinc finger DHHC-type palmitoyltransferase 5 [Gene - OMIM - HGNC]
  • ZNHIT2:zinc finger HIT-type containing 2 [Gene - OMIM - HGNC]
  • ZBTB3:zinc finger and BTB domain containing 3 [Gene - HGNC]
  • ZFPL1:zinc finger protein like 1 [Gene - OMIM - HGNC]
  • ZFTA:zinc finger translocation associated [Gene - OMIM - HGNC]
  • ZNRD2:zinc ribbon domain containing 2 [Gene - OMIM - HGNC]
  • ZP1:zona pellucida glycoprotein 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
11q12.1-13.3
Genomic location:
Chr11: 56895955 - 69295402 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3
HGVS:
    Observations:
    1

    Condition(s)

    Synonyms:
    AllHighlyPenetrant
    Identifiers:
    MedGen: CN169374

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004803073ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
    criteria provided, single submitter

    (Constitutional Copy Number Variant Assertion Criteria)    		Likely pathogenicgermlineclinical testing

    Citation Link

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineunknown1not providednot providednot providednot providedclinical testing

    Details of each submission

    From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV004803073.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineunknownnot providednot providednot provided1not providednot providednot provided

    Last Updated: Sep 1, 2024