Article details

UNPUBLISHED. Contact curators for more information .

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC25'UTRUTRc.-58G>A- 0/0 Found once in 400 patients   Mutation details
DSC25'UTRUTRc.-36C>G- 0/0 TFC- No splicing effect predicted Mutation details
DSC21G8Vc.23G>Tp.Gly8Val 0/0 DCM   Mutation details
DSC21Intronicc.69+30delG- 0/0 Found once in 400 patients   Mutation details
DSC22E46Kc.136G>Ap.Glu46Lys 0/0 Found once in 250 patients   Mutation details
DSC23D70Ec.210C>Ap.Asp70Glu 0/180     Mutation details
DSC23T91fsX103c.271_272insCAATp.Lys91Thrfs*13 0/0     Mutation details
DSC23T117Tc.351A>Gp.Thr117= 5/370   185 Dutch control samples Mutation details
DSC25Intronicc.475-76G>C- 0/0     Mutation details
DSC25D179Gc.536A>Gp.Asp179Gly 0/0 recessive ARVC416 heterozygous carriers do not have a phenotype. One patient with the CTNNA3 p.V583A mutation also carried this mutation. Founder mutation from Italy (presentation A Lorenzon, Padova, Italy) Mutation details
DSC25F209Fc.627T>Cp.Phe209= 0/0 Found once in 170 patients   Mutation details
DSC26Intronicc.631-29C>G- 0/0     Mutation details
DSC26Intronicc.631-13dupA- 0/0 Found once in 250 patients   Mutation details
DSC28Splicec.943-1G>Ar.spl? 0/0     Mutation details
DSC29Intronicc.1078-40A>T- 0/0     Mutation details
DSC29Intronicc.1078-31C>T- 0/0     Mutation details
DSC29D380Ec.1140T>G p.Asp380Glu 0/0 Found once in 320 patients   Mutation details
DSC29Intronicc.1263+38A>G- 0/0     Mutation details
DSC210G436Gc.1308T>C p.Gly436= 0/0 Found once in 400 patients   Mutation details
DSC210R450Rc.1350A>Gp.Arg450= 0/0 Found once in 300 patients No splice effect Mutation details
DSC212I577Vc.1729A>Gp.Ile577Val 1/186     Mutation details
DSC212Intronicc.1888+51G>A- 0/0 Found once in 275 patients   Mutation details
DSC213Intronicc.1889-48A>T - 0/0 Found twice in 400 patients   Mutation details
DSC214A718Tc.2152G>Ap.Ala718Thr 0/0 Found once in 250 patients   Mutation details
DSC215Intronicc.2251-27C>A- 0/0     Mutation details
DSC215Intronicc.2251-20G>A- 0/0     Mutation details
DSC215G762Gc.2286C>Tp.Gly762= 0/0 Found once in 230 patients   Mutation details
DSC215G790delc.2368_2370delGGAp.Gly790del 1/180   Found once in a control sample, never in a patient Mutation details
DSC215P832Tc.2494C>Ap.Pro832Thr 0/0     Mutation details
DSC216A897fsX900c.2686_2687dupGAp.Ala897LysfsX4 3/178     Mutation details
DSC23'UTRUTRc.*46A>T- 0/0     Mutation details
DSG21Intronicc.45+33G>T- 0/0     Mutation details
DSG22Intronicc.46-36T>C- 0/0     Mutation details
DSG22N19Nc.57C>Tp.Asn19= 0/0 Found once in 310 patients   Mutation details
DSG23E61fsX111c.182delGp.Gly61Glufs*51 0/0   Also carries P157L in DSG2 Mutation details
DSG23Splicec.216+2T>Cr.spl? 0/0     Mutation details
DSG24Intronicc.217-89G>C- 0/0     Mutation details
DSG24H74Rc.221A>Gp.His74Arg 0/0 Found once in 300 patients   Mutation details
DSG25Intronicc.379-52G>A- 0/0     Mutation details
DSG25R146Lc.437G>Tp.Arg146Leu 0/0 Found once in 300 patients   Mutation details
DSG25P157Lc.470C>Tp.Pro157Leu 0/0   Also carries E61fsX111 in DSG2 Mutation details
DSG26Intronicc.524-48A>G- 0/0     Mutation details
DSG26Intronicc.524-9T>A- 0/0     Mutation details
DSG26S194Pc.580T>Cp.Ser194Pro 0/0 Found once in 230 patients   Mutation details
DSG26S194Lc.581C>Tp.Ser194Leu 0/0   Also carries F833I in DSG2 Mutation details
DSG28R292Hc.875G>Ap.Arg292His 0/0   Patient also carries DSG2 Q461X mutation Mutation details
DSG29Intronicc.1015-7C>G- 0/0     Mutation details
DSG29S351Gc.1051A>Gp.Ser351Gly 0/0 Found once in 310 patients   Mutation details
DSG29L390fsX398c.1168dupAp.Ser390Lysfs*9 0/0     Mutation details
DSG210Q461Xc.1381C>Tp.Gln461X 0/0   Patient also carries DSG2 R292H variant Mutation details
DSG211I492Vc.1474A>Gp.Ile492Val 0/200     Mutation details
DSG211E501Dc.1503G>Tp.Glu501Asp 0/280     Mutation details
DSG213Intronicc.1880-40A>G- 0/0     Mutation details
DSG214I704Vc.2110A>Gp.Ile704Val 0/300     Mutation details
DSG215A780Ac.2340G>Ap.Ala780= 0/0     Mutation details
DSG215Y783Xc.2349C>Ap.Tyr783X 0/0 Found once in 400 patients Homozygous Mutation details
DSG215F833Ic.2497T>Ap.Phe833Ile 0/0   Also carries S194L in DSG2 Mutation details
DSG215N898Tc.2693A>Cp.Asn898Thr 0/300     Mutation details
DSG215T1070Mc.3209C>Tp.Thr1070Met 0/150     Mutation details
DSP1G46Dc.137G>Ap.Gly46Asp 0/96     Mutation details
DSP2Intronicc.171-65T>C- 0/0     Mutation details
DSP2C81Yc.242G>Ap.Cys81Tyr 0/300     Mutation details
DSP3Intronicc.422+32C>G- 0/0 Found once in 500 patients   Mutation details
DSP4Intronicc.423-23T>A- 0/0 Found once in 500 patients   Mutation details
DSP4Intronicc.423-16_423-15insC- 0/0 Found once in 500 patients   Mutation details
DSP5Del exon 5-24c.601-?_8559+?del- 0/0     Mutation details
DSP5R222Lc.665G>Tp.Arg222Leu 0/0     Mutation details
DSP5Intronicc.726+7G>C- 0/0     Mutation details
DSP6Intronicc.727-35G>A- 0/0     Mutation details
DSP6Intronicc.777+22G>A- 0/0     Mutation details
DSP6Intronicc.777+29G>A- 0/0     Mutation details
DSP8Intronicc.1044+49A>G- 0/0     Mutation details
DSP9A354fsX368c.1060_1061delCTp.Leu354AlafsX15 0/0     Mutation details
DSP9T356Tc.1068G>Ap.Thr356= 0/0     Mutation details
DSP10L392Pc.1175T>Cp.Leu392Pro 0/0 Found once in 600 patients1Son, diagnosed with ARVC, carries the variant Mutation details
DSP10K393Kc.1179G>Ap.Lys393= 0/0     Mutation details
DSP10K402Kc.1206G>Ap.Lys402= 0/0     Mutation details
DSP10Intronicc.1266+44G>A- 0/0 Found once in 450 patients   Mutation details
DSP12Intronicc.1574+14G>T- 0/0     Mutation details
DSP12Intronicc.1574+50G>A- 0/0     Mutation details
DSP13Intronicc.1701+44G>A- 0/0 Found once in 500 patients   Mutation details
DSP14H618Pc.1853A>Cp.His618Pro 0/0   Heterozygous in Carvajal syndrome patient Mutation details
DSP14Q620Qc.1860G>Ap.Gln620= 0/0     Mutation details
DSP14T621Pc.1861A>Cp.Thr621Pro 0/0 Found once in 440 patients   Mutation details
DSP15Intronicc.1904-17C>G- 0/0     Mutation details
DSP16Intronicc.2297+47C>T- 0/0     Mutation details
DSP16Intronicc.2297+74A>C- 0/0     Mutation details
DSP17R808Cc.2422C>Tp.Arg808Cys 0/0 DCM1Brother SCD at age 46. Mutation details
DSP17R808Hc.2423G>Ap.Arg808His 0/300     Mutation details
DSP18L824Lc.2470T>Cp.Leu824= 0/0     Mutation details
DSP18N871fsX887c.2611_2614delGATAp.Asp871AsnfsX17 0/0     Mutation details
DSP19Y891Yc.2673T>Cp.Tyr891= 0/0 Found once in 400 patients   Mutation details
DSP19Y895Hc.2683T>Cp.Tyr895His 0/0 Found once in 600 patients   Mutation details
DSP19R908Hc.2723G>Ap.Arg908His 0/124     Mutation details
DSP20G939Sc.2815G>Ap.Gly939Ser 0/0     Mutation details
DSP23Y1101Yc.3303C>Tp.Tyr1101= 0/0     Mutation details
DSP23Y1116Hc.3346T>Cp.Tyr1116His 0/0     Mutation details
DSP23Y1188Hc.3262T>Cp.Tyr1188His 0/0 Found once in 370 patients   Mutation details
DSP23Y1217Mc.3650C>Tp.Tyr1217Met 0/0 CPVT Patient also carries variant in JUP: S125L Mutation details
DSP23Q1321Qc.3963G>Ap.Gln1321= 0/0     Mutation details
DSP23Y1355Yc.4065T>Cp.Tyr1355= 0/0     Mutation details
DSP23R1400Xc.4198C>Tp.Arg1400X 0/0     Mutation details
DSP23Y1465Xc.4395T>Gp.Tyr1465* 0/0     Mutation details
DSP23E1461Ec.4383G>Ap.Glu1461= 0/0     Mutation details
DSP23T1522Mc.4565C>T p.Thr1522Met 0/0     Mutation details
DSP23V1530Fc.4588G>Tp.Val1530Phe 0/0 Found once in 600 patients   Mutation details
DSP23V1639Mc.4915G>Ap.Val1639Met 0/0     Mutation details
DSP23N1726Kc.5178C>Ap.Asn1726Lys 0/150     Mutation details
DSP23D1772Dc.5316T>C p.Asp1772= 0/0 Found once in 400 patients   Mutation details
DSP24Q1807Xc.5419C>Tp.Gln1807* 0/0   DSP Y2731H on the same allele Mutation details
DSP24Q1810Xc.5428C>Tp.Gln1810X 0/0     Mutation details
DSP24V1817Mc.5449G>Ap.Val1817Met 0/0 Found once in 450 patients   Mutation details
DSP24E1833Vc.5498A>Tp.Glu1833Val 0/0   Patient also carries PLN R14del and N1824G in MYH7 Mutation details
DSP24A2153fsX2155c.6456dupGp.Leu2153Alafs*3 0/0     Mutation details
DSP24G2226Gc.6678T>Ap.Gly2226= 0/0 Found once in 600 patients   Mutation details
DSP24T2267Sc.6799A>Tp.Thr2267Ser 0/0 Found once in 600 patients   Mutation details
DSP24A2294Gc.6881C>Gp.Ala2294Gly 0/0 from Canada   Mutation details
DSP24D2673Dc.8019C>Tp.Asp2673= 0/0 Found once in 500 patients   Mutation details
DSP24G2703Rc.8107G>Ap.Gly2703Arg 0/0 Found once in 350 patients   Mutation details
DSP24R2725Hc.8174G>Ap.Arg2725His 0/0 Found once in 600 patients   Mutation details
DSP24A2771Vc.8312C>Tp.Ala2771Val 0/0     Mutation details
DSP24L2774Lc.8320C>Tp.Leu2774= 0/0 Found once in 370 patients   Mutation details
DSP24A2805Ac.8415C>Tp.Ala2805= 0/0     Mutation details
DSP24R2834Cc.8500C>Tp.Arg2834Cys 0/0     Mutation details
DSP24R2846Gc.8536C>Gp.Arg2846Gly 0/0     Mutation details
DSP3'UTRUTRc.*42A>G- 0/124     Mutation details
JUP2K12Rc.35A>Gp.Lys12Arg 0/0 Found once in 400 patients   Mutation details
JUP3E96Kc.286G>Ap.Glu96Lys 0/160     Mutation details
JUP3S125Lc.374C>Tp.Ser125Leu 0/0 CPVT Patient also carries DSP Y1217M variant Mutation details
JUP4Intronicc.469-48C>T- 0/0     Mutation details
JUP4Splicec.469-8_469-1delr.spl? 0/0 Found once in 400 patients   Mutation details
JUP5E301Gc.902A>Gp.Glu301Gly 0/0 Naxos disease, homozygous Found in 2 Canadian Naxos patients Mutation details
JUP8Intronicc.1159-21C>T- 0/0     Mutation details
JUP9Intronicc.1498-27C>G- 0/0 Found once in 400 patients   Mutation details
JUP10Intronicc.1773+27A>G- 0/0     Mutation details
JUP10Intronicc.1773+57G>C- 0/0 Found once in 250 patients   Mutation details
JUP11Intronicc.1774-13C>T- 0/0 Found once in 250 patients   Mutation details
JUP12Intronicc.1925-40delG- 0/0     Mutation details
JUP13Intronicc.2047-14C>G- 0/0     Mutation details
JUP14M704Ic.2112G>Ap.Met704Ile 0/0 Found once in 315 patients   Mutation details
JUP14M743Vc.2227T>Ap.Met743Val 0/0 Found once in 220 patients   Mutation details
PKP25'UTRUTRc.-22C>G- 0/0   No effect on splicing Mutation details
PKP25'UTRUTRc.-5G>T- 0/600 from UK no cosegregation Mutation details
PKP21Q19Xc.55C>Tp.Gln19X 0/0     Mutation details
PKP21D26Nc.76G>A p.Asp26Asn 5/210   Personal communication from A. Rampazzo Mutation details
PKP21D26Nc.76G>A p.Asp26Asn 0/0 Found in 2/100 Caucasian probands, did not segregate with the disease in one family. Personal communication from B. Funke Mutation details
PKP21K52Kc.156G>Ap.Lys52= 0/0     Mutation details
PKP21R55Rc.165G>Tp.Arg55= 0/0     Mutation details
PKP21A65Ac.195C>Tp.Ala65= 0/0 Found once in 600 patients   Mutation details
PKP22R101Hc.302G>Ap.Arg101His 0/0 Found once in 460 patients   Mutation details
PKP22P103Tc.307C>Ap.Pro103Thr 0/0 TFC-2  Mutation details
PKP23E120Xc.358G>Tp.Glu120X 0/0     Mutation details
PKP23W123Xc.368G>Ap.Trp123X 0/0 Found once in 600 patients   Mutation details
PKP23Q133Xc.397C>Tp.Gln133X 0/0   Patient also carries PKP2 c.1440_1444del5 Mutation details
PKP23S164Rc.492C>A p.Ser164Arg 0/0 Found once in 600 patients   Mutation details
PKP23S169Gc.505A>Gp.Ser169Gly 0/0 Found once in 400 patients   Mutation details
PKP23P192Pc.576G>Ap.Pro192= 0/0     Mutation details
PKP23P192Pc.576G>Ap.Pro192= 0/0     Mutation details
PKP23T217fsX261c.648_651delATACp.Tyr217ThrfsX45 0/0   This deletion comes from the PKP2 pseudogene located upstream of the actual gene. We have convincing PCR and exome sequencing data proving PKP2 exonic primers for exon 3 will find the same 4nt deletion in any control human gDNA. [Personal communication from Mary Sweet - Taylor/Mestroni Lab, Denver] Mutation details
PKP23L281fsX301c.841delAp.Thr281LeufsX21 TFC+   Mutation details
PKP23Q318fsX341c.951_983delinsACp.His318GlnfsX24 0/0   Compound heterozygote: PKP2 c.1510+5G>A(UV) Mutation details
PKP23A324Ac.972G>Ap.Ala324= 0/0     Mutation details
PKP23G328Rc.982G>Ap.Gly328Arg 0/100     Mutation details
PKP23G328Ac.983G>Cp.Gly328Ala 0/0     Mutation details
PKP24A372Ac.1116T>Cp.Ala372= 0/0 Found once in 500 patients   Mutation details
PKP24Splicec.1170+1G>Cr.spl? 0/0     Mutation details
PKP25Intronicc.1171-11T>C- 0/0     Mutation details
PKP25S422fsX423c.1265_1266delTTp.Lys422SerfsX2 0/0 Clinical suspicions of ARVC/D. Cardiac MR: fibro-fatty replacement in RV/LV; Biventricular enlargement (NYHA class II).  Father died suddenly at age 50, sister with VF, both carried the mutation. Submitted by Dr. Marziliano. Mutation details
PKP25E432Ec.1296G>Ap.Glu432= 0/0     Mutation details
PKP25D460Nc.1378G>Ap.Asp460Asn 0/0   Mutation affects splicing Mutation details
PKP26Intronicc.1379-22G>A- 0/0 Found once in 600 patients   Mutation details
PKP26Splicec.1379-1G>Ar.spl? 0/0     Mutation details
PKP26A474Ac.1422G>Ap.Ala474= 0/0     Mutation details
PKP26480fs*c.1440_1444del5 p.? 0/0   Patient also carries PKP2 Q133* Mutation details
PKP26R490Wc.1468C>Tp.Arg490Trp 0/0 Found once in 400 patients   Mutation details
PKP26Intronicc.1510+78G>A-     Mutation details
PKP27Splicec.1511-2A>G  0/0     Mutation details
PKP27Intronicc.1511-54G>A- 0/0     Mutation details
PKP27I531Tc.1592T>Cp.Ile531Thr 1/94     Mutation details
PKP27I531Sc.1592T>Gp.Ile531Ser 2/414 TFC-; arrhythmia   Mutation details
PKP27N547Nc.1641T>Cp.Asn547= 0/0     Mutation details
PKP27Intronicc.1688+27T>C- 0/0     Mutation details
PKP27Intronicc.1688+29G>A- 0/0     Mutation details
PKP28Intronicc.1689-7_1689-8insT- 0/0     Mutation details
PKP28G581Ec.1742G>Ap.Gly581Glu 0/0 HCM No sarcomere mutation Mutation details
PKP29E605Ec.1815G>Ap.Glu605= 0/0     Mutation details
PKP29L611Rc.1832T>Gp.Leu611Arg 0/0     Mutation details
PKP29L614Pc.1841T>CLeu614Pro 0/0     Mutation details
PKP211Dup exon 11-14c.2146-?_*?dup- 0/0     Mutation details
PKP211S751Sc.2253G>Ap.Ser751= 0/0     Mutation details
PKP212T798Rc.2393C>Gp.Thr798Arg 0/0 From 2 Canadian families   Mutation details
PKP212D829Dc.2487T>Cp.Asp829= 0/0     Mutation details
PKP213Intronicc.2577+70C>A- 0/0     Mutation details
PKP214A860Ac.2580T>Cp.Ala860= 0/0     Mutation details
PKP214Splicec.2578-3A>Gp.Ala860fs 0/0   Confirmed effect on splicing, no NMD Mutation details
PKP214T872Ic.2615C>Tp.Thr872Ile 0/0 TFC+5Compound heterozygote: PKP2 Q133X Mutation details
PKP214H877Qc.2631C>Ap.His877Gln 0/0 TFC-   Mutation details
TMEM431Intronicc.12+34G>C- 0/0     Mutation details
TMEM432M41Vc.121A>Gp.Met41Val 0/0 Found once in 150 patients   Mutation details
TMEM433Intronicc.163-3delC- 0/0 Found once in 200 patients   Mutation details
TMEM434H118Yc.352C>Tp.His118Tyr 0/0  1  Mutation details
TMEM435Intronicc.393-40G>A- 0/0 Found once in 350 patients   Mutation details
TMEM435Intronicc.442+43delG- 0/0 Found once in 350 patients   Mutation details
TMEM436Intronicc.512+19G>T- 0/0     Mutation details
TMEM437Intronicc.583+30G>A- 0/0 Found once in 275 patients   Mutation details
TMEM438L208Lc.624A>Gp.Leu208= 0/300     Mutation details
TMEM439R240Cc.718C>Tp.Arg240Cys 0/0 Found once in 200 patients Patient also carries a PKP2 mutation Mutation details
TMEM4310Intronicc.781-42C>T- 0/0     Mutation details
TMEM4310T282Ac.844 A>Gp.Thr282Ala 0/0 Found once in 275 patients   Mutation details
TMEM4310Intronicc.882+25G>A- 0/0     Mutation details
TMEM4311R312Wc.934C>Tp.Arg312Trp 4/500   did not segregate with the disease in a family with a proband who died of SCD at age 25 and was diagnosed with ARVC post-mortem Mutation details
TMEM4312G381Sc.1141G>Ap.Gly381Ser 0/0 Found once in 250 patients   Mutation details
TMEM433'UTRUTRc.*8C>T- 0/0 Found once in 275 patients   Mutation details
TMEM433'UTRUTRc.*31T>C- 3/300     Mutation details
TMEM433'UTRUTRc*115T>C- 0/0     Mutation details
TMEM433'UTRUTRc*106A>G- 0/0 Found once in 350 patients   Mutation details