U.S. flag

An official website of the United States government

GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 31, 2017
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:
RCV000487658.3

Allele description [Variation Report for GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3]

GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3

Genes:
  • HTR4:5-hydroxytryptamine receptor 4 [Gene - OMIM - HGNC]
  • PHYKPL:5-phosphohydroxy-L-lysine phospho-lyase [Gene - OMIM - HGNC]
  • ADAM19:ADAM metallopeptidase domain 19 [Gene - OMIM - HGNC]
  • ADAMTS19:ADAM metallopeptidase with thrombospondin type 1 motif 19 [Gene - OMIM - HGNC]
  • ADAMTS2:ADAM metallopeptidase with thrombospondin type 1 motif 2 [Gene - OMIM - HGNC]
  • ARL10:ADP ribosylation factor like GTPase 10 [Gene - HGNC]
  • ARL14EPL:ADP ribosylation factor like GTPase 14 effector protein like [Gene - HGNC]
  • AFF4:ALF transcription elongation factor 4 [Gene - OMIM - HGNC]
  • ANKHD1-EIF4EBP3:ANKHD1-EIF4EBP3 readthrough [Gene - HGNC]
  • APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
  • ATP6V0E1:ATPase H+ transporting V0 subunit e1 [Gene - OMIM - HGNC]
  • ATP10B:ATPase phospholipid transporting 10B (putative) [Gene - OMIM - HGNC]
  • ARAP3:ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 [Gene - OMIM - HGNC]
  • BNIP1:BCL2 interacting protein 1 [Gene - OMIM - HGNC]
  • CXCL14:C-X-C motif chemokine ligand 14 [Gene - OMIM - HGNC]
  • C1QTNF2:C1q and TNF related 2 [Gene - OMIM - HGNC]
  • CNOT8:CCR4-NOT transcription complex subunit 8 [Gene - OMIM - HGNC]
  • CD14:CD14 molecule [Gene - OMIM - HGNC]
  • CD74:CD74 molecule [Gene - OMIM - HGNC]
  • CLK4:CDC like kinase 4 [Gene - OMIM - HGNC]
  • CDC42SE2:CDC42 small effector 2 [Gene - OMIM - HGNC]
  • CDKN2AIPNL:CDKN2A interacting protein N-terminal like [Gene - HGNC]
  • COMMD10:COMM domain containing 10 [Gene - OMIM - HGNC]
  • CREBRF:CREB3 regulatory factor [Gene - OMIM - HGNC]
  • CXXC5:CXXC finger protein 5 [Gene - OMIM - HGNC]
  • DELE1:DAP3 binding cell death enhancer 1 [Gene - OMIM - HGNC]
  • DDX41:DEAD-box helicase 41 [Gene - OMIM - HGNC]
  • DDX46:DEAD-box helicase 46 [Gene - OMIM - HGNC]
  • DND1:DND microRNA-mediated repression inhibitor 1 [Gene - OMIM - HGNC]
  • DTWD2:DTW domain containing 2 [Gene - HGNC]
  • DMXL1:Dmx like 1 [Gene - OMIM - HGNC]
  • DNAJC18:DnaJ heat shock protein family (Hsp40) member C18 [Gene - HGNC]
  • EBF1:EBF transcription factor 1 [Gene - OMIM - HGNC]
  • EFCAB9:EF-hand calcium binding domain 9 [Gene - OMIM - HGNC]
  • FBXW11:F-box and WD repeat domain containing 11 [Gene - OMIM - HGNC]
  • FBXL17:F-box and leucine rich repeat protein 17 [Gene - OMIM - HGNC]
  • FBXO38:F-box protein 38 [Gene - OMIM - HGNC]
  • FAT2:FAT atypical cadherin 2 [Gene - OMIM - HGNC]
  • FCHSD1:FCH and double SH3 domains 1 [Gene - OMIM - HGNC]
  • FER:FER tyrosine kinase [Gene - OMIM - HGNC]
  • FAF2:Fas associated factor family member 2 [Gene - OMIM - HGNC]
  • GPRIN1:G protein regulated inducer of neurite outgrowth 1 [Gene - OMIM - HGNC]
  • GPR150:G protein-coupled receptor 150 [Gene - HGNC]
  • GPR151:G protein-coupled receptor 151 [Gene - OMIM - HGNC]
  • GRK6:G protein-coupled receptor kinase 6 [Gene - OMIM - HGNC]
  • G3BP1:G3BP stress granule assembly factor 1 [Gene - OMIM - HGNC]
  • GFRA3:GDNF family receptor alpha 3 [Gene - OMIM - HGNC]
  • GRAMD2B:GRAM domain containing 2B [Gene - OMIM - HGNC]
  • GRPEL2:GrpE like 2, mitochondrial [Gene - OMIM - HGNC]
  • HIGD2A:HIG1 hypoxia inducible domain family member 2A [Gene - HGNC]
  • HMGXB3:HMG-box containing 3 [Gene - OMIM - HGNC]
  • IK:IK cytokine [Gene - OMIM - HGNC]
  • ITK:IL2 inducible T cell kinase [Gene - OMIM - HGNC]
  • IGIP:IgA inducing protein [Gene - HGNC]
  • KIAA1191:KIAA1191 [Gene - HGNC]
  • LSM11:LSM11, U7 small nuclear RNA associated [Gene - OMIM - HGNC]
  • LYRM7:LYR motif containing 7 [Gene - OMIM - HGNC]
  • LARP1:La ribonucleoprotein 1, translational regulator [Gene - OMIM - HGNC]
  • MXD3:MAX dimerization protein 3 [Gene - OMIM - HGNC]
  • MCC:MCC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
  • NDST1:N-deacetylase and N-sulfotransferase 1 [Gene - OMIM - HGNC]
  • NDUFA2:NADH:ubiquinone oxidoreductase subunit A2 [Gene - OMIM - HGNC]
  • N4BP3:NEDD4 binding protein 3 [Gene - OMIM - HGNC]
  • NHP2:NHP2 ribonucleoprotein [Gene - OMIM - HGNC]
  • NIPAL4:NIPA like domain containing 4 [Gene - OMIM - HGNC]
  • NKX2-5:NK2 homeobox 5 [Gene - OMIM - HGNC]
  • NME5:NME/NM23 family member 5 [Gene - OMIM - HGNC]
  • NOP16:NOP16 nucleolar protein [Gene - OMIM - HGNC]
  • NDFIP1:Nedd4 family interacting protein 1 [Gene - OMIM - HGNC]
  • NUDCD2:NudC domain containing 2 [Gene - OMIM - HGNC]
  • PDLIM4:PDZ and LIM domain 4 [Gene - OMIM - HGNC]
  • PDLIM7:PDZ and LIM domain 7 [Gene - OMIM - HGNC]
  • PLAC8L1:PLAC8 like 1 [Gene - HGNC]
  • POU4F3:POU class 4 homeobox 3 [Gene - OMIM - HGNC]
  • PPARGC1B:PPARG coactivator 1 beta [Gene - OMIM - HGNC]
  • PRDM6:PR/SET domain 6 [Gene - OMIM - HGNC]
  • PRELID1:PRELI domain containing 1 [Gene - OMIM - HGNC]
  • PRELID2:PRELI domain containing 2 [Gene - HGNC]
  • PROP1:PROP paired-like homeobox 1 [Gene - OMIM - HGNC]
  • PTTG1:PTTG1 regulator of sister chromatid separation, securin [Gene - OMIM - HGNC]
  • PWWP2A:PWWP domain containing 2A [Gene - OMIM - HGNC]
  • RAB24:RAB24, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAD50:RAD50 double strand break repair protein [Gene - OMIM - HGNC]
  • RANBP17:RAN binding protein 17 [Gene - OMIM - HGNC]
  • RELL2:RELT like 2 [Gene - OMIM - HGNC]
  • RIOK2:RIO kinase 2 [Gene - OMIM - HGNC]
  • RBM22:RNA binding motif protein 22 [Gene - OMIM - HGNC]
  • RBM27:RNA binding motif protein 27 [Gene - OMIM - HGNC]
  • RAPGEF6:Rap guanine nucleotide exchange factor 6 [Gene - OMIM - HGNC]
  • ARHGAP26:Rho GTPase activating protein 26 [Gene - OMIM - HGNC]
  • ARHGEF37:Rho guanine nucleotide exchange factor 37 [Gene - HGNC]
  • RHOBTB3:Rho related BTB domain containing 3 [Gene - OMIM - HGNC]
  • RFESD:Rieske Fe-S domain containing [Gene - HGNC]
  • SKP1:S-phase kinase associated protein 1 [Gene - OMIM - HGNC]
  • SAP30L:SAP30 like [Gene - OMIM - HGNC]
  • SEC24A:SEC24 homolog A, COPII coat complex component [Gene - OMIM - HGNC]
  • SH3PXD2B:SH3 and PX domains 2B [Gene - OMIM - HGNC]
  • SH3TC2:SH3 domain and tetratricopeptide repeats 2 [Gene - OMIM - HGNC]
  • SH3RF2:SH3 domain containing ring finger 2 [Gene - OMIM - HGNC]
  • SIL1:SIL1 nucleotide exchange factor [Gene - OMIM - HGNC]
  • SKIC3:SKI3 subunit of superkiller complex [Gene - OMIM - HGNC]
  • SLU7:SLU7 homolog, splicing factor [Gene - OMIM - HGNC]
  • SMAD5:SMAD family member 5 [Gene - OMIM - HGNC]
  • SPOCK1:SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 [Gene - OMIM - HGNC]
  • SOX30:SRY-box transcription factor 30 [Gene - OMIM - HGNC]
  • ST8SIA4:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 [Gene - OMIM - HGNC]
  • SIMC1:SUMO interacting motifs containing 1 [Gene - OMIM - HGNC]
  • STARD4:StAR related lipid transfer domain containing 4 [Gene - OMIM - HGNC]
  • TIMD4:T cell immunoglobulin and mucin domain containing 4 [Gene - OMIM - HGNC]
  • TLX3:T cell leukemia homeobox 3 [Gene - OMIM - HGNC]
  • TAF7:TATA-box binding protein associated factor 7 [Gene - OMIM - HGNC]
  • THOC3:THO complex subunit 3 [Gene - OMIM - HGNC]
  • TIFAB:TIFA inhibitor [Gene - OMIM - HGNC]
  • TICAM2:TIR domain containing adaptor molecule 2 [Gene - OMIM - HGNC]
  • TMED7-TICAM2:TMED7-TICAM2 readthrough [Gene - HGNC]
  • TNFAIP8:TNF alpha induced protein 8 [Gene - OMIM - HGNC]
  • TNIP1:TNFAIP3 interacting protein 1 [Gene - OMIM - HGNC]
  • WDR36:WD repeat domain 36 [Gene - OMIM - HGNC]
  • WDR55:WD repeat domain 55 [Gene - HGNC]
  • WWC1:WW and C2 domain containing 1 [Gene - OMIM - HGNC]
  • WNT8A:Wnt family member 8A [Gene - OMIM - HGNC]
  • YTHDC2:YTH N6-methyladenosine RNA binding protein C2 [Gene - OMIM - HGNC]
  • YIPF5:Yip1 domain family member 5 [Gene - OMIM - HGNC]
  • ZFP2:ZFP2 zinc finger protein [Gene - HGNC]
  • ABLIM3:actin binding LIM protein family member 3 [Gene - OMIM - HGNC]
  • AFAP1L1:actin filament associated protein 1 like 1 [Gene - OMIM - HGNC]
  • ACSL6:acyl-CoA synthetase long chain family member 6 [Gene - OMIM - HGNC]
  • AP3S1:adaptor related protein complex 3 subunit sigma 1 [Gene - OMIM - HGNC]
  • ADRA1B:adrenoceptor alpha 1B [Gene - OMIM - HGNC]
  • ADRB2:adrenoceptor beta 2 [Gene - OMIM - HGNC]
  • ALDH7A1:aldehyde dehydrogenase 7 family member A1 [Gene - OMIM - HGNC]
  • APBB3:amyloid beta precursor protein binding family B member 3 [Gene - OMIM - HGNC]
  • ANKHD1:ankyrin repeat and KH domain containing 1 [Gene - OMIM - HGNC]
  • ANXA6:annexin A6 [Gene - OMIM - HGNC]
  • ATOX1:antioxidant 1 copper chaperone [Gene - OMIM - HGNC]
  • RARS1:arginyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • ARSI:arylsulfatase family member I [Gene - OMIM - HGNC]
  • ARSK:arylsulfatase family member K [Gene - OMIM - HGNC]
  • ATG12:autophagy related 12 [Gene - OMIM - HGNC]
  • B4GALT7:beta-1,4-galactosyltransferase 7 [Gene - OMIM - HGNC]
  • BOD1:biorientation of chromosomes in cell division 1 [Gene - OMIM - HGNC]
  • BRD8:bromodomain containing 8 [Gene - OMIM - HGNC]
  • CDHR2:cadherin related family member 2 [Gene - OMIM - HGNC]
  • CAMLG:calcium modulating ligand [Gene - OMIM - HGNC]
  • CAMK2A:calcium/calmodulin dependent protein kinase II alpha [Gene - OMIM - HGNC]
  • CAMK4:calcium/calmodulin dependent protein kinase IV [Gene - OMIM - HGNC]
  • CAST:calpastatin [Gene - OMIM - HGNC]
  • CSNK1A1:casein kinase 1 alpha 1 [Gene - OMIM - HGNC]
  • CSNK1G3:casein kinase 1 gamma 3 [Gene - OMIM - HGNC]
  • CTNNA1:catenin alpha 1 [Gene - OMIM - HGNC]
  • CATSPER3:cation channel sperm associated 3 [Gene - OMIM - HGNC]
  • CDX1:caudal type homeobox 1 [Gene - OMIM - HGNC]
  • CDC23:cell division cycle 23 [Gene - OMIM - HGNC]
  • CDC25C:cell division cycle 25C [Gene - OMIM - HGNC]
  • CEP120:centrosomal protein 120 [Gene - OMIM - HGNC]
  • CHSY3:chondroitin sulfate synthase 3 [Gene - OMIM - HGNC]
  • CHD1:chromodomain helicase DNA binding protein 1 [Gene - OMIM - HGNC]
  • C5orf15:chromosome 5 open reading frame 15 [Gene - HGNC]
  • C5orf24:chromosome 5 open reading frame 24 [Gene - HGNC]
  • C5orf46:chromosome 5 open reading frame 46 [Gene - HGNC]
  • C5orf47:chromosome 5 open reading frame 47 [Gene - OMIM - HGNC]
  • C5orf52:chromosome 5 open reading frame 52 [Gene - HGNC]
  • C5orf58:chromosome 5 open reading frame 58 [Gene - HGNC]
  • C5orf63:chromosome 5 open reading frame 63 [Gene - HGNC]
  • CLINT1:clathrin interactor 1 [Gene - OMIM - HGNC]
  • CLTB:clathrin light chain B [Gene - OMIM - HGNC]
  • F12:coagulation factor XII [Gene - OMIM - HGNC]
  • CCDC112:coiled-coil domain containing 112 [Gene - HGNC]
  • CCDC69:coiled-coil domain containing 69 [Gene - OMIM - HGNC]
  • COL23A1:collagen type XXIII alpha 1 chain [Gene - OMIM - HGNC]
  • CSF1R:colony stimulating factor 1 receptor [Gene - OMIM - HGNC]
  • CSF2:colony stimulating factor 2 [Gene - OMIM - HGNC]
  • CPLX2:complexin 2 [Gene - OMIM - HGNC]
  • CTXN3:cortexin 3 [Gene - OMIM - HGNC]
  • CCNG1:cyclin G1 [Gene - OMIM - HGNC]
  • CCNI2:cyclin I family member 2 [Gene - OMIM - HGNC]
  • CCNJL:cyclin J like [Gene - HGNC]
  • CDKL3:cyclin dependent kinase like 3 [Gene - OMIM - HGNC]
  • CDO1:cysteine dioxygenase type 1 [Gene - OMIM - HGNC]
  • CYSTM1:cysteine rich transmembrane module containing 1 [Gene - HGNC]
  • CYFIP2:cytoplasmic FMR1 interacting protein 2 [Gene - OMIM - HGNC]
  • CPEB4:cytoplasmic polyadenylation element binding protein 4 [Gene - OMIM - HGNC]
  • DCP2:decapping mRNA 2 [Gene - OMIM - HGNC]
  • DOCK2:dedicator of cytokinesis 2 [Gene - OMIM - HGNC]
  • DCANP1:dendritic cell associated nuclear protein 1 [Gene - OMIM - HGNC]
  • DIAPH1:diaphanous related formin 1 [Gene - OMIM - HGNC]
  • DPYSL3:dihydropyrimidinase like 3 [Gene - OMIM - HGNC]
  • PPIP5K2:diphosphoinositol pentakisphosphate kinase 2 [Gene - OMIM - HGNC]
  • DOK3:docking protein 3 [Gene - OMIM - HGNC]
  • DRD1:dopamine receptor D1 [Gene - OMIM - HGNC]
  • DBN1:drebrin 1 [Gene - OMIM - HGNC]
  • DUSP1:dual specificity phosphatase 1 [Gene - OMIM - HGNC]
  • DCTN4:dynactin subunit 4 [Gene - OMIM - HGNC]
  • EGR1:early growth response 1 [Gene - OMIM - HGNC]
  • ELL2:elongation factor for RNA polymerase II 2 [Gene - OMIM - HGNC]
  • ERAP1:endoplasmic reticulum aminopeptidase 1 [Gene - OMIM - HGNC]
  • ERAP2:endoplasmic reticulum aminopeptidase 2 [Gene - OMIM - HGNC]
  • ERGIC1:endoplasmic reticulum-golgi intermediate compartment 1 [Gene - OMIM - HGNC]
  • ECSCR:endothelial cell surface expressed chemotaxis and apoptosis regulator [Gene - OMIM - HGNC]
  • EFNA5:ephrin A5 [Gene - OMIM - HGNC]
  • EPB41L4A:erythrocyte membrane protein band 4.1 like 4A [Gene - OMIM - HGNC]
  • EIF4EBP3:eukaryotic translation initiation factor 4E binding protein 3 [Gene - OMIM - HGNC]
  • EIF4E1B:eukaryotic translation initiation factor 4E family member 1B [Gene - HGNC]
  • ETF1:eukaryotic translation termination factor 1 [Gene - OMIM - HGNC]
  • FAM114A2:family with sequence similarity 114 member A2 [Gene - HGNC]
  • FAM13B:family with sequence similarity 13 member B [Gene - OMIM - HGNC]
  • FAM153A:family with sequence similarity 153 member A [Gene - HGNC]
  • FAM153B:family with sequence similarity 153 member B [Gene - HGNC]
  • FAM170A:family with sequence similarity 170 member A [Gene - OMIM - HGNC]
  • FAM174A:family with sequence similarity 174 member A [Gene - HGNC]
  • FAM193B:family with sequence similarity 193 member B [Gene - OMIM - HGNC]
  • FAM200C:family with sequence similarity 200 member C [Gene - OMIM - HGNC]
  • FAM53C:family with sequence similarity 53 member C [Gene - OMIM - HGNC]
  • FABP6:fatty acid binding protein 6 [Gene - OMIM - HGNC]
  • FAXDC2:fatty acid hydroxylase domain containing 2 [Gene - OMIM - HGNC]
  • FEM1C:fem-1 homolog C [Gene - OMIM - HGNC]
  • FTMT:ferritin mitochondrial [Gene - OMIM - HGNC]
  • FBN2:fibrillin 2 [Gene - OMIM - HGNC]
  • FGF18:fibroblast growth factor 18 [Gene - OMIM - HGNC]
  • FGF1:fibroblast growth factor 1 [Gene - OMIM - HGNC]
  • FGFR4:fibroblast growth factor receptor 4 [Gene - OMIM - HGNC]
  • FNDC9:fibronectin type III domain containing 9 [Gene - HGNC]
  • FNIP1:folliculin interacting protein 1 [Gene - OMIM - HGNC]
  • FSTL4:follistatin like 4 [Gene - HGNC]
  • FOXI1:forkhead box I1 [Gene - OMIM - HGNC]
  • GABRA1:gamma-aminobutyric acid type A receptor subunit alpha1 [Gene - OMIM - HGNC]
  • GABRA6:gamma-aminobutyric acid type A receptor subunit alpha6 [Gene - OMIM - HGNC]
  • GABRB2:gamma-aminobutyric acid type A receptor subunit beta2 [Gene - OMIM - HGNC]
  • GABRG2:gamma-aminobutyric acid type A receptor subunit gamma2 [Gene - OMIM - HGNC]
  • GABRP:gamma-aminobutyric acid type A receptor subunit pi [Gene - OMIM - HGNC]
  • GM2A:ganglioside GM2 activator [Gene - OMIM - HGNC]
  • GEMIN5:gem nuclear organelle associated protein 5 [Gene - OMIM - HGNC]
  • GNPDA1:glucosamine-6-phosphate deaminase 1 [Gene - OMIM - HGNC]
  • GRIA1:glutamate ionotropic receptor AMPA type subunit 1 [Gene - OMIM - HGNC]
  • GRM6:glutamate metabotropic receptor 6 [Gene - OMIM - HGNC]
  • GRXCR2:glutaredoxin and cysteine rich domain containing 2 [Gene - OMIM - HGNC]
  • GLRX:glutaredoxin [Gene - OMIM - HGNC]
  • GPX3:glutathione peroxidase 3 [Gene - OMIM - HGNC]
  • GLRA1:glycine receptor alpha 1 [Gene - OMIM - HGNC]
  • GARIN3:golgi associated RAB2B interactor family member 3 [Gene - OMIM - HGNC]
  • GDF9:growth differentiation factor 9 [Gene - OMIM - HGNC]
  • GIN1:gypsy retrotransposon integrase 1 [Gene - HGNC]
  • HAND1:heart and neural crest derivatives expressed 1 [Gene - OMIM - HGNC]
  • HSPA4:heat shock protein family A (Hsp70) member 4 [Gene - OMIM - HGNC]
  • HSPA9:heat shock protein family A (Hsp70) member 9 [Gene - OMIM - HGNC]
  • HBEGF:heparin binding EGF like growth factor [Gene - OMIM - HGNC]
  • HAVCR1:hepatitis A virus cellular receptor 1 [Gene - OMIM - HGNC]
  • HAVCR2:hepatitis A virus cellular receptor 2 [Gene - OMIM - HGNC]
  • HNRNPAB:heterogeneous nuclear ribonucleoprotein A/B [Gene - OMIM - HGNC]
  • HNRNPA0:heterogeneous nuclear ribonucleoprotein A0 [Gene - OMIM - HGNC]
  • HK3:hexokinase 3 [Gene - OMIM - HGNC]
  • HRH2:histamine receptor H2 [Gene - OMIM - HGNC]
  • HINT1:histidine triad nucleotide binding protein 1 [Gene - OMIM - HGNC]
  • HARS1:histidyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • HARS2:histidyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • HMHB1:histocompatibility minor HB-1 [Gene - OMIM - HGNC]
  • HDAC3:histone deacetylase 3 [Gene - OMIM - HGNC]
  • HMMR:hyaluronan mediated motility receptor [Gene - OMIM - HGNC]
  • HSD17B4:hydroxysteroid 17-beta dehydrogenase 4 [Gene - OMIM - HGNC]
  • IRGM:immunity related GTPase M [Gene - OMIM - HGNC]
  • INSYN2B:inhibitory synaptic factor family member 2B [Gene - HGNC]
  • IRF1:interferon regulatory factor 1 [Gene - OMIM - HGNC]
  • IL12B:interleukin 12B [Gene - OMIM - HGNC]
  • IL13:interleukin 13 [Gene - OMIM - HGNC]
  • IL17B:interleukin 17B [Gene - OMIM - HGNC]
  • IL3:interleukin 3 [Gene - OMIM - HGNC]
  • IL4:interleukin 4 [Gene - OMIM - HGNC]
  • IL5:interleukin 5 [Gene - OMIM - HGNC]
  • IL9:interleukin 9 [Gene - OMIM - HGNC]
  • ISOC1:isochorismatase domain containing 1 [Gene - HGNC]
  • JADE2:jade family PHD finger 2 [Gene - OMIM - HGNC]
  • JAKMIP2:janus kinase and microtubule interacting protein 2 [Gene - OMIM - HGNC]
  • KLHL3:kelch like family member 3 [Gene - OMIM - HGNC]
  • KIF20A:kinesin family member 20A [Gene - OMIM - HGNC]
  • KIF3A:kinesin family member 3A [Gene - OMIM - HGNC]
  • KIF4B:kinesin family member 4B [Gene - OMIM - HGNC]
  • LVRN:laeverin [Gene - OMIM - HGNC]
  • LMNB1:lamin B1 [Gene - OMIM - HGNC]
  • LMAN2:lectin, mannose binding 2 [Gene - OMIM - HGNC]
  • LRRTM2:leucine rich repeat transmembrane neuronal 2 [Gene - OMIM - HGNC]
  • LNPEP:leucyl and cystinyl aminopeptidase [Gene - OMIM - HGNC]
  • LARS1:leucyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • LECT2:leukocyte cell derived chemotaxin 2 [Gene - OMIM - HGNC]
  • LIX1:limb and CNS expressed 1 [Gene - OMIM - HGNC]
  • LEAP2:liver enriched antimicrobial peptide 2 [Gene - OMIM - HGNC]
  • LCP2:lymphocyte cytosolic protein 2 [Gene - OMIM - HGNC]
  • KDM3B:lysine demethylase 3B [Gene - OMIM - HGNC]
  • LOX:lysyl oxidase [Gene - OMIM - HGNC]
  • MACROH2A1:macroH2A.1 histone [Gene - OMIM - HGNC]
  • MACIR:macrophage immunometabolism regulator [Gene - OMIM - HGNC]
  • MAN2A1:mannosidase alpha class 2A member 1 [Gene - OMIM - HGNC]
  • MZB1:marginal zone B and B1 cell specific protein [Gene - OMIM - HGNC]
  • MATR3:matrin 3 [Gene - OMIM - HGNC]
  • MED7:mediator complex subunit 7 [Gene - OMIM - HGNC]
  • MARCHF3:membrane associated ring-CH-type finger 3 [Gene - OMIM - HGNC]
  • MINAR2:membrane integral NOTCH2 associated receptor 2 [Gene - OMIM - HGNC]
  • MAT2B:methionine adenosyltransferase 2 non-catalytic beta subunit [Gene - OMIM - HGNC]
  • MIR103A1:microRNA 103a-1 [Gene - OMIM - HGNC]
  • MIR143:microRNA 143 [Gene - OMIM - HGNC]
  • MIR145:microRNA 145 [Gene - OMIM - HGNC]
  • MIR146A:microRNA 146a [Gene - OMIM - HGNC]
  • MIR378A:microRNA 378a [Gene - OMIM - HGNC]
  • MFAP3:microfibril associated protein 3 [Gene - OMIM - HGNC]
  • MRPL22:mitochondrial ribosomal protein L22 [Gene - OMIM - HGNC]
  • MSX2:msh homeobox 2 [Gene - OMIM - HGNC]
  • MEGF10:multiple EGF like domains 10 [Gene - OMIM - HGNC]
  • MYOT:myotilin [Gene - OMIM - HGNC]
  • MYOZ3:myozenin 3 [Gene - OMIM - HGNC]
  • NEURL1B:neuralized E3 ubiquitin protein ligase 1B [Gene - OMIM - HGNC]
  • NRG2:neuregulin 2 [Gene - OMIM - HGNC]
  • NEUROG1:neurogenin 1 [Gene - OMIM - HGNC]
  • NMUR2:neuromedin U receptor 2 [Gene - OMIM - HGNC]
  • NREP:neuronal regeneration related protein [Gene - OMIM - HGNC]
  • NSD1:nuclear receptor binding SET domain protein 1 [Gene - OMIM - HGNC]
  • NR3C1:nuclear receptor subfamily 3 group C member 1 [Gene - OMIM - HGNC]
  • NPM1:nucleophosmin 1 [Gene - OMIM - HGNC]
  • NUDT12:nudix hydrolase 12 [Gene - OMIM - HGNC]
  • PITX1:paired like homeodomain 1 [Gene - OMIM - HGNC]
  • PANK3:pantothenate kinase 3 [Gene - OMIM - HGNC]
  • PAM:peptidylglycine alpha-amidating monooxygenase [Gene - OMIM - HGNC]
  • PPIC:peptidylprolyl isomerase C [Gene - OMIM - HGNC]
  • PDE6A:phosphodiesterase 6A [Gene - OMIM - HGNC]
  • PHAX:phosphorylated adaptor for RNA export [Gene - OMIM - HGNC]
  • PDGFRB:platelet derived growth factor receptor beta [Gene - OMIM - HGNC]
  • PSD2:pleckstrin and Sec7 domain containing 2 [Gene - HGNC]
  • PAIP2:poly(A) binding protein interacting protein 2 [Gene - OMIM - HGNC]
  • PKD2L2:polycystin 2 like 2, transient receptor potential cation channel [Gene - OMIM - HGNC]
  • GALNT10:polypeptide N-acetylgalactosaminyltransferase 10 [Gene - OMIM - HGNC]
  • KCNMB1:potassium calcium-activated channel subfamily M regulatory beta subunit 1 [Gene - OMIM - HGNC]
  • KCNN2:potassium calcium-activated channel subfamily N member 2 [Gene - OMIM - HGNC]
  • KCTD16:potassium channel tetramerization domain containing 16 [Gene - OMIM - HGNC]
  • KCNIP1:potassium voltage-gated channel interacting protein 1 [Gene - OMIM - HGNC]
  • PJA2:praja ring finger ubiquitin ligase 2 [Gene - OMIM - HGNC]
  • PFDN1:prefoldin subunit 1 [Gene - OMIM - HGNC]
  • PCYOX1L:prenylcysteine oxidase 1 like [Gene - HGNC]
  • PFN3:profilin 3 [Gene - OMIM - HGNC]
  • PRR16:proline rich 16 [Gene - OMIM - HGNC]
  • PRR7:proline rich 7, synaptic [Gene - OMIM - HGNC]
  • PROB1:proline rich basic protein 1 [Gene - HGNC]
  • PRRC1:proline rich coiled-coil 1 [Gene - HGNC]
  • P4HA2:prolyl 4-hydroxylase subunit alpha 2 [Gene - OMIM - HGNC]
  • PCSK1:proprotein convertase subtilisin/kexin type 1 [Gene - OMIM - HGNC]
  • PGGT1B:protein geranylgeranyltransferase type I subunit beta [Gene - OMIM - HGNC]
  • PPP2CA:protein phosphatase 2 catalytic subunit alpha [Gene - OMIM - HGNC]
  • PPP2R2B:protein phosphatase 2 regulatory subunit Bbeta [Gene - OMIM - HGNC]
  • PCDH12:protocadherin 12 [Gene - OMIM - HGNC]
  • PCDH1:protocadherin 1 [Gene - OMIM - HGNC]
  • PCDHA10:protocadherin alpha 10 [Gene - OMIM - HGNC]
  • PCDHA11:protocadherin alpha 11 [Gene - OMIM - HGNC]
  • PCDHA12:protocadherin alpha 12 [Gene - OMIM - HGNC]
  • PCDHA13:protocadherin alpha 13 [Gene - OMIM - HGNC]
  • PCDHA1:protocadherin alpha 1 [Gene - OMIM - HGNC]
  • PCDHA2:protocadherin alpha 2 [Gene - OMIM - HGNC]
  • PCDHA3:protocadherin alpha 3 [Gene - OMIM - HGNC]
  • PCDHA4:protocadherin alpha 4 [Gene - OMIM - HGNC]
  • PCDHA5:protocadherin alpha 5 [Gene - OMIM - HGNC]
  • PCDHA6:protocadherin alpha 6 [Gene - OMIM - HGNC]
  • PCDHA7:protocadherin alpha 7 [Gene - OMIM - HGNC]
  • PCDHA8:protocadherin alpha 8 [Gene - OMIM - HGNC]
  • PCDHA9:protocadherin alpha 9 [Gene - OMIM - HGNC]
  • PCDHA@:protocadherin alpha cluster, complex locus [Gene - OMIM - HGNC]
  • PCDHAC1:protocadherin alpha subfamily C, 1 [Gene - OMIM - HGNC]
  • PCDHAC2:protocadherin alpha subfamily C, 2 [Gene - OMIM - HGNC]
  • PCDHB10:protocadherin beta 10 [Gene - OMIM - HGNC]
  • PCDHB11:protocadherin beta 11 [Gene - OMIM - HGNC]
  • PCDHB12:protocadherin beta 12 [Gene - OMIM - HGNC]
  • PCDHB13:protocadherin beta 13 [Gene - OMIM - HGNC]
  • PCDHB14:protocadherin beta 14 [Gene - OMIM - HGNC]
  • PCDHB15:protocadherin beta 15 [Gene - OMIM - HGNC]
  • PCDHB16:protocadherin beta 16 [Gene - OMIM - HGNC]
  • PCDHB1:protocadherin beta 1 [Gene - OMIM - HGNC]
  • PCDHB2:protocadherin beta 2 [Gene - OMIM - HGNC]
  • PCDHB3:protocadherin beta 3 [Gene - OMIM - HGNC]
  • PCDHB4:protocadherin beta 4 [Gene - OMIM - HGNC]
  • PCDHB5:protocadherin beta 5 [Gene - OMIM - HGNC]
  • PCDHB6:protocadherin beta 6 [Gene - OMIM - HGNC]
  • PCDHB7:protocadherin beta 7 [Gene - OMIM - HGNC]
  • PCDHB8:protocadherin beta 8 [Gene - OMIM - HGNC]
  • PCDHB9:protocadherin beta 9 [Gene - OMIM - HGNC]
  • PCDHB@:protocadherin beta cluster [Gene - OMIM - HGNC]
  • PCDHGA10:protocadherin gamma subfamily A, 10 [Gene - OMIM - HGNC]
  • PCDHGA11:protocadherin gamma subfamily A, 11 [Gene - OMIM - HGNC]
  • PCDHGA12:protocadherin gamma subfamily A, 12 [Gene - OMIM - HGNC]
  • PCDHGA1:protocadherin gamma subfamily A, 1 [Gene - OMIM - HGNC]
  • PCDHGA2:protocadherin gamma subfamily A, 2 [Gene - OMIM - HGNC]
  • PCDHGA3:protocadherin gamma subfamily A, 3 [Gene - OMIM - HGNC]
  • PCDHGA4:protocadherin gamma subfamily A, 4 [Gene - OMIM - HGNC]
  • PCDHGA5:protocadherin gamma subfamily A, 5 [Gene - OMIM - HGNC]
  • PCDHGA6:protocadherin gamma subfamily A, 6 [Gene - OMIM - HGNC]
  • PCDHGA7:protocadherin gamma subfamily A, 7 [Gene - OMIM - HGNC]
  • PCDHGA8:protocadherin gamma subfamily A, 8 [Gene - OMIM - HGNC]
  • PCDHGA9:protocadherin gamma subfamily A, 9 [Gene - OMIM - HGNC]
  • PCDHGB1:protocadherin gamma subfamily B, 1 [Gene - OMIM - HGNC]
  • PCDHGB2:protocadherin gamma subfamily B, 2 [Gene - OMIM - HGNC]
  • PCDHGB3:protocadherin gamma subfamily B, 3 [Gene - OMIM - HGNC]
  • PCDHGB4:protocadherin gamma subfamily B, 4 [Gene - OMIM - HGNC]
  • PCDHGB5:protocadherin gamma subfamily B, 5 [Gene - OMIM - HGNC]
  • PCDHGB6:protocadherin gamma subfamily B, 6 [Gene - OMIM - HGNC]
  • PCDHGB7:protocadherin gamma subfamily B, 7 [Gene - OMIM - HGNC]
  • PCDHGC3:protocadherin gamma subfamily C, 3 [Gene - OMIM - HGNC]
  • PCDHGC4:protocadherin gamma subfamily C, 4 [Gene - OMIM - HGNC]
  • PCDHGC5:protocadherin gamma subfamily C, 5 [Gene - OMIM - HGNC]
  • PCBD2:pterin-4 alpha-carbinolamine dehydratase 2 [Gene - OMIM - HGNC]
  • PURA:purine rich element binding protein A [Gene - OMIM - HGNC]
  • REEP2:receptor accessory protein 2 [Gene - OMIM - HGNC]
  • REEP5:receptor accessory protein 5 [Gene - OMIM - HGNC]
  • RGS14:regulator of G protein signaling 14 [Gene - OMIM - HGNC]
  • RGMB:repulsive guidance molecule BMP co-receptor b [Gene - OMIM - HGNC]
  • RMND5B:required for meiotic nuclear division 5 homolog B [Gene - HGNC]
  • RPL26L1:ribosomal protein L26 like 1 [Gene - HGNC]
  • RPS14:ribosomal protein S14 [Gene - OMIM - HGNC]
  • RNF145:ring finger protein 145 [Gene - HGNC]
  • RNF14:ring finger protein 14 [Gene - OMIM - HGNC]
  • RNF44:ring finger protein 44 [Gene - OMIM - HGNC]
  • SGCD:sarcoglycan delta [Gene - OMIM - HGNC]
  • SPARC:secreted protein acidic and cysteine rich [Gene - OMIM - HGNC]
  • SAR1B:secretion associated Ras related GTPase 1B [Gene - OMIM - HGNC]
  • SCGB3A2:secretoglobin family 3A member 2 [Gene - OMIM - HGNC]
  • SEMA6A:semaphorin 6A [Gene - OMIM - HGNC]
  • SEPTIN8:septin 8 [Gene - OMIM - HGNC]
  • SPINK13:serine peptidase inhibitor Kazal type 13 [Gene - OMIM - HGNC]
  • SPINK14:serine peptidase inhibitor Kazal type 14 (putative) [Gene - HGNC]
  • SPINK1:serine peptidase inhibitor Kazal type 1 [Gene - OMIM - HGNC]
  • SPINK5:serine peptidase inhibitor Kazal type 5 [Gene - OMIM - HGNC]
  • SPINK6:serine peptidase inhibitor Kazal type 6 [Gene - OMIM - HGNC]
  • SPINK7:serine peptidase inhibitor Kazal type 7 [Gene - OMIM - HGNC]
  • SPINK9:serine peptidase inhibitor Kazal type 9 [Gene - OMIM - HGNC]
  • STK10:serine/threonine kinase 10 [Gene - OMIM - HGNC]
  • STK32A:serine/threonine kinase 32A [Gene - HGNC]
  • SRFBP1:serum response factor binding protein 1 [Gene - OMIM - HGNC]
  • SHROOM1:shroom family member 1 [Gene - OMIM - HGNC]
  • SFXN1:sideroflexin 1 [Gene - OMIM - HGNC]
  • SRP19:signal recognition particle 19 [Gene - OMIM - HGNC]
  • SLIT3:slit guidance ligand 3 [Gene - OMIM - HGNC]
  • SMIM23:small integral membrane protein 23 [Gene - HGNC]
  • SMIM3:small integral membrane protein 3 [Gene - OMIM - HGNC]
  • SNHG4:small nucleolar RNA host gene 4 [Gene - HGNC]
  • SNORA74B:small nucleolar RNA, H/ACA box 74B [Gene - OMIM - HGNC]
  • SLC12A2:solute carrier family 12 member 2 [Gene - OMIM - HGNC]
  • SLC22A4:solute carrier family 22 member 4 [Gene - OMIM - HGNC]
  • SLC22A5:solute carrier family 22 member 5 [Gene - OMIM - HGNC]
  • SLC23A1:solute carrier family 23 member 1 [Gene - OMIM - HGNC]
  • SLC25A2:solute carrier family 25 member 2 [Gene - OMIM - HGNC]
  • SLC25A46:solute carrier family 25 member 46 [Gene - OMIM - HGNC]
  • SLC25A48:solute carrier family 25 member 48 [Gene - OMIM - HGNC]
  • SLC26A2:solute carrier family 26 member 2 [Gene - OMIM - HGNC]
  • SLC27A6:solute carrier family 27 member 6 [Gene - OMIM - HGNC]
  • SLC34A1:solute carrier family 34 member 1 [Gene - OMIM - HGNC]
  • SLC35A4:solute carrier family 35 member A4 [Gene - OMIM - HGNC]
  • SLC36A1:solute carrier family 36 member 1 [Gene - OMIM - HGNC]
  • SLC36A2:solute carrier family 36 member 2 [Gene - OMIM - HGNC]
  • SLC36A3:solute carrier family 36 member 3 [Gene - OMIM - HGNC]
  • SLC4A9:solute carrier family 4 member 9 [Gene - OMIM - HGNC]
  • SLC6A7:solute carrier family 6 member 7 [Gene - OMIM - HGNC]
  • SLCO4C1:solute carrier organic anion transporter family member 4C1 [Gene - OMIM - HGNC]
  • SLCO6A1:solute carrier organic anion transporter family member 6A1 [Gene - OMIM - HGNC]
  • SNX24:sorting nexin 24 [Gene - HGNC]
  • SNX2:sorting nexin 2 [Gene - OMIM - HGNC]
  • SOWAHA:sosondowah ankyrin repeat domain family member A [Gene - HGNC]
  • SPMIP10:sperm microtubule inner protein 10 [Gene - HGNC]
  • SPATA24:spermatogenesis associated 24 [Gene - HGNC]
  • SPATA9:spermatogenesis associated 9 [Gene - OMIM - HGNC]
  • SPDL1:spindle apparatus coiled-coil protein 1 [Gene - OMIM - HGNC]
  • SPRY4:sprouty RTK signaling antagonist 4 [Gene - OMIM - HGNC]
  • STC2:stanniocalcin 2 [Gene - OMIM - HGNC]
  • SRA1:steroid receptor RNA activator 1 [Gene - OMIM - HGNC]
  • STING1:stimulator of interferon response cGAMP interactor 1 [Gene - OMIM - HGNC]
  • SYNPO:synaptopodin [Gene - OMIM - HGNC]
  • SNCAIP:synuclein alpha interacting protein [Gene - OMIM - HGNC]
  • SNCB:synuclein beta [Gene - OMIM - HGNC]
  • THG1L:tRNA-histidine guanylyltransferase 1 like [Gene - OMIM - HGNC]
  • TENM2:teneurin transmembrane protein 2 [Gene - OMIM - HGNC]
  • TSSK1B:testis specific serine kinase 1B [Gene - OMIM - HGNC]
  • TSPAN17:tetraspanin 17 [Gene - OMIM - HGNC]
  • TTC1:tetratricopeptide repeat domain 1 [Gene - OMIM - HGNC]
  • TXNDC15:thioredoxin domain containing 15 [Gene - OMIM - HGNC]
  • TSLP:thymic stromal lymphopoietin [Gene - OMIM - HGNC]
  • TIGD6:tigger transposable element derived 6 [Gene - HGNC]
  • TCERG1:transcription elongation regulator 1 [Gene - OMIM - HGNC]
  • TCF7:transcription factor 7 [Gene - OMIM - HGNC]
  • TGFBI:transforming growth factor beta induced [Gene - OMIM - HGNC]
  • TRPC7:transient receptor potential cation channel subfamily C member 7 [Gene - HGNC]
  • TMCO6:transmembrane and coiled-coil domains 6 [Gene - HGNC]
  • TMED7:transmembrane p24 trafficking protein 7 [Gene - OMIM - HGNC]
  • TMED9:transmembrane p24 trafficking protein 9 [Gene - OMIM - HGNC]
  • TMEM232:transmembrane protein 232 [Gene - OMIM - HGNC]
  • TCOF1:treacle ribosome biogenesis factor 1 [Gene - OMIM - HGNC]
  • TRIM36:tripartite motif containing 36 [Gene - OMIM - HGNC]
  • UQCRQ:ubiquinol-cytochrome c reductase complex III subunit VII [Gene - OMIM - HGNC]
  • UBE2B:ubiquitin conjugating enzyme E2 B [Gene - OMIM - HGNC]
  • UBE2D2:ubiquitin conjugating enzyme E2 D2 [Gene - OMIM - HGNC]
  • UBTD2:ubiquitin domain containing 2 [Gene - OMIM - HGNC]
  • UIMC1:ubiquitin interaction motif containing 1 [Gene - OMIM - HGNC]
  • UBLCP1:ubiquitin like domain containing CTD phosphatase 1 [Gene - OMIM - HGNC]
  • UNC5A:unc-5 netrin receptor A [Gene - OMIM - HGNC]
  • LOC100128059:uncharacterized LOC100128059 [Gene]
  • LOC100288254:uncharacterized LOC100288254 [Gene]
  • VTRNA1-1:vault RNA 1-1 [Gene - OMIM - HGNC]
  • VTRNA1-2:vault RNA 1-2 [Gene - OMIM - HGNC]
  • VTRNA1-3:vault RNA 1-3 [Gene - OMIM - HGNC]
  • VTRNA2-1:vault RNA 2-1 [Gene - OMIM - HGNC]
  • VDAC1:voltage dependent anion channel 1 [Gene - OMIM - HGNC]
  • ZCCHC10:zinc finger CCHC-type containing 10 [Gene - HGNC]
  • ZMAT2:zinc finger matrin-type 2 [Gene - OMIM - HGNC]
  • ZNF300:zinc finger protein 300 [Gene - OMIM - HGNC]
  • ZNF346:zinc finger protein 346 [Gene - OMIM - HGNC]
  • ZNF354A:zinc finger protein 354A [Gene - OMIM - HGNC]
  • ZNF354B:zinc finger protein 354B [Gene - HGNC]
  • ZNF354C:zinc finger protein 354C [Gene - OMIM - HGNC]
  • ZNF454:zinc finger protein 454 [Gene - HGNC]
  • ZNF474:zinc finger protein 474 [Gene - HGNC]
  • ZNF608:zinc finger protein 608 [Gene - HGNC]
  • ZNF879:zinc finger protein 879 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
5q15-35.3
Genomic location:
Chr5: 94844077 - 178830410 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3
HGVS:
    Observations:
    1

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000575695CeGaT Center for Human Genetics Tuebingen
    criteria provided, single submitter

    (Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)    		Likely benign
    (Jan 31, 2017)     		germlineclinical testing

    Citation Link

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineyes1not providednot providednot providednot providedclinical testing

    Details of each submission

    From CeGaT Center for Human Genetics Tuebingen, SCV000575695.6

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

    Last Updated: Oct 14, 2023