Article details

Kapplinger et al. Jornal of the American College of Cardiology 2011;57:2317-27.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC21G12Rc.34G>A/Cp.Gly12Arg 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSC23F58Vc.172T>Gp.Phe58Val 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSC26E245Ac.734A>Cp.Glu245Ala 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSC27V303Mc.907G>Ap.Val303Met 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSC210E427Gc.1280A>Gp.Glu427Gly 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSC212A592Vc.1775C>Tp.Ala592Val 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSC212G605Dc.1814G>Ap.Gly605Asp 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSC215S824Ac.2470T>Gp.Ser824Ala 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSC215R833Cc.2497C>Tp.Arg833Cys 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSC215R833Hc.2498G>Ap.Arg833His 1/854   Variant identified in 1/427 ostensibly healthy subjects; also carried DSP V2004F variant Mutation details
DSC216D879Gc.2636A>Gp.Asp879Gly 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSG28R292Cc.874C>Tp.Arg292Cys 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSG29F388Cc.1163T>Gp.Phe388Cys 1/854   Variant identified in 1/427 ostensibly healthy subjects; also carried DSP D2512Y variant Mutation details
DSG29V392Ic.1174G>A p.Val392Ile 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSG212L594Pc.1781T>Cp.Leu594Pro 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSG212D605Vc.1814A>Tp.Asp605Val 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSG212A613Tc.1837G>Ap.Ala613Thr 1/854   Variant identified in 1/427 ostensibly healthy subjects; also carried PKP2 Q343H variant Mutation details
DSG212A616Vc.1847C>Tp.Ala616Val 1/854   Variant identified in 1/427 ostensibly healthy subjects; also carried DSP K449T variant Mutation details
DSG214Q731Pc.2192A>Cp.Gln731Pro 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSG215A917Vc.2750C>Tp.Ala917Val 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSG215P927Lc.2780C>Tp.Pro927Leu 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSG215V933Mc.2797G>Ap.Val933Met 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSG215I934Vc.2800A>Gp.Ile934Val 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSG215S960Rc.2878A>C or c.2880C>A/Gp.Ser960Arg 1/854   Variant identified in 1/427 ostensibly healthy subjects; also carried DSP Q1648R variant Mutation details
DSG215M1015Ic.3045G>?p.Met1015Ile 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSG215I1038Tc.3133T>Cp.Ile1038Thr 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSG215T1099Ac.3295A>Gp.Thr1099Ala 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSP1V30Mc.88G>Ap.Val30Met 1/854   Variant identified in 1/427 ostensibly healthy subjects; also carried DSP T49S variant Mutation details
DSP1T49Sc.146C>Gp.Thr49Ser 1/854   Variant identified in 1/427 ostensibly healthy subjects; also carried DSP V30M variant Mutation details
DSP5R222Gc.664C>Gp.Arg222Gly 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSP11K449Tc.1346A>Cp.Lys449Thr 1/854   Variant identified in 1/427 ostensibly healthy subjects; also carried DSG2 A616V variant Mutation details
DSP18T830Ic.2489C>Tp.Thr830Ile 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSP18R866Sc.2596C>Ap.Arg866Ser 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSP19E882Kc.2644G>Ap.Glu882Lys 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSP20N956Yc.2866A>Tp.Asn956Tyr 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSP23F1334Lc.4000T>Cp.Phe1334Leu 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSP23R1485Sc.4455G>C/Tp.Arg1485Ser 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSP23R1497Wc.4489C>Tp.Arg1497Trp 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSP23T1522Mc.4565C>T p.Thr1522Met 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSP23S1629Ic.4886G>Tp.Ser1629Ile 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSP23Q1648Rc.4943A>Gp.Gln1648Arg 1/854   Variant identified in 1/427 ostensibly healthy subjects; also carried DSG2 S960R variant Mutation details
DSP23I1701Tc.5102T>Cp.Ile1701Thr 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSP23D1732Gc.5195A>Gp.Asp1732Gly 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSP24N1865Yc.5593A>Tp.Asn1865Tyr 1/854   Variant identified in 1/427 ostensibly healthy subjects; also carried PKP2 V411I variant Mutation details
DSP24R1873Cc.5617C>Tp.Arg1873Cys 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSP24V2004Fc.6010G>Tp.Val2004Phe 1/854   Variant identified in 1/427 ostensibly healthy subjects; also carried DSC2 R833H variant Mutation details
DSP24V2219Ic.6655G>Ap.Val2291Ile 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSP24D2512Yc.7534G>Tp.Asp2512Tyr 1/854   Variant identified in 1/427 ostensibly healthy subjects; also carried DSG2 F388C variant Mutation details
DSP24P2618Sc.7852C>Tp.Pro2618Ser 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSP24Q2724Hc.8172G>C/Tp.Gln2724His 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSP24Y2731Hc.8191T>Cp.Tyr2731His 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSP24M2819Lc.8455A>Cp.Met2819Leu 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
DSP24S2843_R2846delc.8527_8538del12p.Ser2843_Arg2846del 1/854   Variant identified in 1/427 ostensibly healthy subjects; also carried PKP2 V587I variant Mutation details
PKP23R158Kc.473G>Ap.Arg158Lys 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
PKP23T242Mc.725C>Tp.Thr242Met 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
PKP23V310Mc.928G>Ap.Val310Met 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
PKP23Q343Hc.1029G>C/Tp.Gln343His 1/854   Variant identified in 1/427 ostensibly healthy subjects; also carried DSG2 A613T variant Mutation details
PKP24C381Yc.1142G>Ap.Cys381Tyr 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
PKP25Splicec.1171-1G>Ar.spl? 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
PKP25V411Ic.1231G>Ap.Val411Ile 1/854   Variant identified in 1/427 ostensibly healthy subjects; also carried DSP N1865Y variant Mutation details
PKP26A474Vc.1421C>Tp.Ala474Val 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
PKP27A546Tc.1636G>Ap.ala546Thr 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
PKP28V587Ic.1759G>Ap.Val587Ile 1/854   Variant identified in 1/427 ostensibly healthy subjects; also carried DSP S2843_R2846del variant Mutation details
PKP210R695Cc.2083C>Tp.Arg695Cys 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
PKP212K768Tc.2303A>Cp.Lys768Thr 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
PKP212A793Dc.2378C>Ap.Ala793Asp 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
PKP212D812Nc.2434G>Ap.Asp812Asn 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
PKP212D829Nc.2485G>Ap.Asp829Asn 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
TMEM432R11Lc.31C>Tp.Arg11Trp 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
TMEM433V89Mc.265G>Ap.Val89Met 1/854   Variant identified in 1/427 ostensibly healthy subjects; also carried TMEM43 R299T variant Mutation details
TMEM433I91Vc.271A>Gp.Ile91Val 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
TMEM435E135Kc.403G>Ap.Glu135Lys 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
TMEM435T143Mc.428C>Tp.Thr143Met 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
TMEM439R240Hc.719G>Ap.Arg240His 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
TMEM4310T277Sc.829A>T or c.830G>Cp.Arg277Ser 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
TMEM4311R299Tc.896G>Cp.Arg299Thr 1/854   Variant identified in 1/427 ostensibly healthy subjects; also carried TMEM43 V89M variant Mutation details
TMEM4312D342Ec.1026C>A/Gp.Asp342Glu 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details
TMEM4312L369Fc.1105C>Tp.Leu369Phe 1/854   Variant identified in 1/427 ostensibly healthy subjects Mutation details