Article details

den Haan et al. Circulation Cardiovascular Genetics 2009;2:428-35.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC21N11Sc.32A>Gp.Asn11Ser 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
DSC212A596Vc.1787C>Tp.Ala596Val 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
DSC213Q638Hc.1914G>Cp.Gln638His 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
DSC215I776Vc.2326A>Gp.Ile776Val 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
DSC215R798Qc.2393G>Ap.Arg798Gln 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
DSC216A897fsX900c.2686_2687dupGAp.Ala897LysfsX4 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
DSG23R46Qc.137G>Ap.Arg46Gln 0/0 TFC+ Previously reported by Awad et al. Mutation details
DSG23R49Hc.146G>Ap.Arg49His 0/0 TFC+; 2 unrelated probands Previously reported by Awad et al. Mutation details
DSG23V56Mc.166G>Ap.Val56Met 0/0 TFC+ Share conclusion that V56M likely plays a contributory role. See Dalal et al. Mutation details
DSG25V158Gc.473T>Gp.Val158Gly 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
DSG28G277fsX278c.829-1_835delp.Leu277GlyfsX2 0/400 TFC+ Digenic: PKP2 R413X Mutation details
DSG28W306Xc.918G>Ap.Trp306X 0/0 TFC+ Previously reported by Awad et al. Mutation details
DSG28T335Ac.1003A>Gp.Thr335Ala 0/400 TFC+ Digenic: PKP2 S50fsX110 Mutation details
DSG211C507Yc.1520G>Ap.Cys507Tyr 0/0 TFC+ Previously reported by Awad et al. Mutation details
DSG214E713Kc.2137G>Ap.Glu713Lys 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
DSG215H790Yc.2368C>Tp.His790Tyr 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
DSG215G812Cc.2434G>Tp.Gly812Cys 0/0 TFC+ Previously reported by Awad et al. Mutation details
DSG215S883Fc.2648C>Tp.Ser883Phe 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
DSG215S1098Cc.3293C>Gp.Ser1098Cys 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
DSP7I305Fc.913A>Tp.Ile305Phe 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
DSP11I445Vc.1333A>Gp.Ile445Val 0/400 TFC+   Mutation details
DSP23A1505Vc.4514C>Tp.Ala1505Val 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
DSP23Y1512Cc.4535A>Gp.Tyr1512Cys 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
DSP23N1526Kc.4578C>Ap.Asn1526Lys 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
DSP23R1537Cc.4609C>Tp.Arg1537Cys 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
DSP23R1738Qc.5213G>Ap.Arg1738Gln 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
JUP2T19Ic.56C>Tp.Thr19Ile 0/400 TFC+   Mutation details
JUP3R142Hc.425G>Ap.Arg142His 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
JUP12V648Ic.1942G>Ap.Val648Ile 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
JUP14M697Lc.2089A>Tp.Met697Leu 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
PKP21D26Nc.76G>A p.Asp26Asn 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
PKP21S50fsX110c.148_151delACAGp.Thr50SerfsX61 0/0 TFC+; 4 unrelated probands Previously reported by Dalal et al. Digenic in one patient: DSG2 T335A Mutation details
PKP21S70Ic.209G>Tp.Ser70Ile 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
PKP21A74fsX112c.217_218dupGGp.Asn74AlafsX39 0/0 TFC-; 1 major and 1 minor TFC   Mutation details
PKP22R79Xc.235C>Tp.Arg79X 0/0 TFC+; 2 unrelated probands Previously reported by Dalal et al. Mutation details
PKP23S140Fc.419C>Tp.Ser140Phe 0/0 TFC+ Previously reported by Dalal et al. Mutation details
PKP23A195Vc.584C>Tp.Ala195Val 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
PKP23P276Sc.826C>Tp.Pro276Ser 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
PKP24L366Pc.1097T>Cp.Leu366Pro 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
PKP24A372Pc.1114G>Cp.Ala372Pro 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
PKP25Splicec.1171-2A>Gr.spl 0/0 TFC+ Previously reported by Dalal et al. Mutation details
PKP25R413Xc.1237C>Tp.Arg413X 0/0 TFC+; 2 unrelated probands Digenic in one patient: DSG2 G277fsX278 Mutation details
PKP25F424Sc.1271T>Cp.Phe424Ser 0/0 TFC+ Previously reported by Dalal et al in 2006. Mutation details
PKP25H436fsX446c.1307_1315delins8p.Leu436HisfsX11 0/400 TFC+   Mutation details
PKP25N456fsX458c.1368delAp.Lys456AsnfsX3 0/0 TFC+ Previously reported by Dalal et al. Mutation details
PKP27T526Mc.1577C>Tp.Thr526Met 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
PKP27I531Sc.1592T>Gp.Ile531Ser 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
PKP27W538Xc.1613G>Ap.Trp538X 0/0 TFC+; N=5 Previously reported by Dalal et al. Mutation details
PKP27V548fsX562c.1643delGp.Gly548ValfsX15 0/0 TFC+ Previously reported by Dalal et al in 2006. Mutation details
PKP28V587Ic.1759G>Ap.Val587Ile 0/0 TFC+ Compound heterozygote: PKP2 c.2145+1G>C Mutation details
PKP210R672fsX683c.2013delCp.Lys672ArgfsX12 0/0 TFC+ Previously reported by Dalal et al. in 2006 Mutation details
PKP210Splicec.2145+1G>Cr.spl 0/400 TFC+ Compound heterozygote: PKP2 V587I Mutation details
PKP211Splicec.2146-1G>Cr.spl 0/0 TFC+; 10 unrelated probands Previously reported by Dalal et al. Mutation details
PKP211A733fsX740c.2197_2202delinsGp.His733AlafsX8 0/0 TFC+; N=3 Previously reported by Dalal et al. Mutation details
PKP212L787Fc.2359C>Tp.Leu787Phe 0/400 TFC+   Mutation details
PKP212G828Gc.2484C>Tr.2483_2489del 0/0 TFC+; 2 unrelated probands Previously reported by Awad et al, homozygous mutation carriers Mutation details
PKP212Splicec.2489+1G>Tr.spl 0/400 TFC+   Mutation details
PKP212A830Pc.2488G>Cp.Ala830Pro 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation Mutation details
PKP212Splicec.2489+1G>Ar.spl 0/0 TFC+; 3 unrelated probands Previously reported by Dalal et al. in 2006 Mutation details
PKP213V837fsX930c.2509delAp.Ser837ValfsX94 0/0 TFC-; 3 minor TFC Previously reported by Dalal et al. in 2006 Mutation details