DSG2 — 2193 ClinVar variants

Pathogenic 51

• c.690+1G>A Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Gln257Ter Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Phe211fs Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Thr291fs Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Thr791fs Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.2334+2T>C Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Ala313_Ser314delinsGluMetLysGluValIleSerPheIleTer Single submitter Cardiovascular phenotype
• p.Ala702fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Arg427Ter Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Arg565fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Asn68fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Asn774fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Asp162fs Single submitter Cardiovascular phenotype
• p.Asp304_Ser314delinsGluIleGlyTrpGlnIleLeuHisLeuLysTer Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Asp304fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Asp827fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Cys840Ter Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Gln558Ter Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Gln569Ter Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Gln731Ter Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Glu121Ter Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Glu169Ter Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Glu344_Met345insTer Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Glu719Ter Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Glu879fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Gly640fs Single submitter arrhythmogenic right ventricular cardiomyopathy
• p.Ile220delinsThrCysLeuSerSerSerValLeuProLysTer Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Ile262fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Ile469fs Single submitter
• p.Leu150fs Single submitter Cardiovascular phenotype
• p.Leu724fs Single submitter
• p.Lys141fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Phe388fs Single submitter Cardiovascular phenotype
• p.Pro97fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Ser167fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Ser363Ter Single submitter
• p.Ser913fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Thr128fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Thr176fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Thr226fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Thr249fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Thr587fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Trp306Ter Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Trp51Ter Single submitter Cardiovascular phenotype
• p.Trp657Ter Single submitter Cardiovascular phenotype
• p.Tyr396fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Tyr459Ter Single submitter familial isolated arrhythmogenic right ventricular dysplasia
• p.Tyr799Ter Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Tyr9Ter Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Val201fs Single submitter
• p.Leu237Ter No assertion criteria arrhythmogenic right ventricular cardiomyopathy

Pathogenic/Likely pathogenic 19

• c.523+1G>T Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Arg46Gln Multiple submitters Cardiovascular phenotype
• p.Arg46Trp Multiple submitters Cardiovascular phenotype
• p.Arg49His Multiple submitters Cardiovascular phenotype
• p.Asn462fs Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Gln873Ter Multiple submitters Cardiovascular phenotype
• p.Glu343Ter Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Gly997fs Multiple submitters dilated cardiomyopathy 1BB
• p.Leu171fs Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Leu29fs Multiple submitters Cardiovascular phenotype
• p.Leu610fs Multiple submitters Cardiovascular phenotype
• p.Ser314Ter Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Ser404Ter Multiple submitters Cardiovascular phenotype
• p.Thr31fs Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Tyr783Ter Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Val103fs Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Val271fs Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Val295fs Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Val440fs Multiple submitters dilated cardiomyopathy 1BB

Likely pathogenic 57

• c.1423+1G>T Multiple submitters dilated cardiomyopathy 1BB
• c.2001_2001+5del Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.523+1_523+2del Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.81+1G>T Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.829-2A>T Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Asn266Ser Multiple submitters Cardiovascular phenotype
• p.Tyr130Ter Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• c.1015-2A>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1424-1G>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1651+1G>A Single submitter
• c.1652-1G>A Single submitter
• c.1652-2A>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1879+1G>A Single submitter
• c.2001+1G>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.2002-2A>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.211_216+2del Single submitter familial isolated arrhythmogenic right ventricular dysplasia
• c.2334+1G>A Single submitter
• c.379-1G>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.379-2A>C Single submitter
• c.43_45+9del Single submitter arrhythmogenic right ventricular dysplasia 10
• c.45+1G>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.45+2T>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.524-2A>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.691-1G>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.829-1G>A Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Ala57fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Ala764fs Single submitter Cardiovascular phenotype
• p.Ala917fs Single submitter long QT syndrome
• p.Arg46Leu Single submitter
• p.Asp475fs Single submitter
• p.Asp787fs Single submitter
• p.Asp846fs Single submitter
• p.Gln1006Ter Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Gln576fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Gln761Ter Single submitter Cardiovascular phenotype
• p.Gln916Ter Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Gln993His Single submitter Sudden cardiac death ⚠
• p.Glu339_Val340insTer Single submitter arrhythmogenic right ventricular cardiomyopathy
• p.Glu384Ter Single submitter dilated cardiomyopathy 1BB
• p.Glu446Ter Single submitter
• p.Gly136fs Single submitter
• p.Leu126fs Single submitter
• p.Leu767fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Lys362fs Single submitter
• p.Lys451fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Pro142_Leu143insTer Single submitter
• p.Ser445_Glu446insTer Single submitter intellectual disability
• p.Ser726fs Single submitter
• p.Thr114fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Thr223fs Single submitter
• p.Thr589fs Single submitter dilated cardiomyopathy 1BB
• p.Trp437Ter Single submitter
• p.Trp51Ser Single submitter
• p.Tyr207fs Single submitter
• p.Tyr428fs Single submitter
• p.Val158fs Single submitter arrhythmogenic right ventricular cardiomyopathy
• p.Val272fs Single submitter arrhythmogenic right ventricular dysplasia 10

Conflicting classifications of pathogenicity 234

• c.1014+7A>G Single submitter arrhythmogenic right ventricular cardiomyopathy
• c.1015-7C>G Single submitter cardiomyopathy
• c.1015del Single submitter Cardiovascular phenotype
• c.1280+4AG[3] Single submitter cardiomyopathy
• c.1879+1G>T Single submitter arrhythmogenic right ventricular cardiomyopathy
• c.1880-14T>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1880-2A>G Single submitter arrhythmogenic right ventricular cardiomyopathy
• c.1880-3C>T Single submitter arrhythmogenic right ventricular dysplasia 10
• c.2001+1G>T Single submitter Cardiovascular phenotype
• c.2001+3C>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.2002-3C>T Single submitter cardiomyopathy
• c.2002-7C>G Single submitter cardiomyopathy
• c.216+1G>T Single submitter Cardiovascular phenotype
• c.217-2A>G Single submitter arrhythmogenic right ventricular cardiomyopathy
• c.2334+9G>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.2335-9T>C Single submitter arrhythmogenic right ventricular cardiomyopathy
• c.379-3C>T Single submitter arrhythmogenic right ventricular dysplasia 10
• c.45+1G>A Single submitter Cardiovascular phenotype
• c.45+1G>T Single submitter arrhythmogenic right ventricular dysplasia 10
• c.45+6T>C Single submitter arrhythmogenic right ventricular cardiomyopathy
• c.45+9C>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.46-3C>T Single submitter cardiomyopathy
• c.523+1G>A Single submitter Cardiovascular phenotype
• c.523+1G>C Single submitter Cardiovascular phenotype
• c.523+2T>C Single submitter Cardiovascular phenotype
• c.691-7_691-3del Single submitter Cardiovascular phenotype
• c.81+16_81+17delinsTG Single submitter arrhythmogenic right ventricular dysplasia 10
• c.81+1G>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.82-1G>A Single submitter arrhythmogenic right ventricular cardiomyopathy
• c.82-2A>G Single submitter cardiomyopathy
• c.82-3T>C Single submitter cardiomyopathy
• c.828+13C>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.828+5C>T Single submitter Cardiovascular phenotype
• c.-1G>C Single submitter cardiomyopathy
• c.-55G>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.-79C>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.*1530T>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.*2C>T Single submitter Cardiovascular phenotype
• p.Ala131Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala355Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala450Val Single submitter Cardiovascular phenotype ⚠
• p.Ala50Thr Single submitter cardiomyopathy ⚠
• p.Ala517Val Single submitter Cardiovascular phenotype ⚠
• p.Ala616Val Single submitter Cardiovascular phenotype ⚠
• p.Ala621= Single submitter Cardiovascular phenotype
• p.Ala641Thr Single submitter arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ala735Thr Single submitter cardiomyopathy ⚠
• p.Ala738Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala748Ser Single submitter arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Ala748Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala753fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Ala753Ser Single submitter Cardiovascular phenotype ⚠
• p.Ala766Thr Single submitter arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ala780Val Single submitter Cardiovascular phenotype ⚠
• p.Ala866fs Single submitter arrhythmogenic right ventricular cardiomyopathy
• p.Ala866Val Single submitter cardiomyopathy ⚠
• p.Ala969Val Single submitter Cardiovascular phenotype ⚠
• p.Ala980Thr Single submitter cardiomyopathy ⚠
• p.Arg1019Lys Single submitter Cardiovascular phenotype ⚠
• p.Arg119Ter Single submitter Cardiovascular phenotype
• p.Arg146Leu Single submitter cardiac arrest ⚠
• p.Arg261His Single submitter Cardiovascular phenotype ⚠
• p.Arg292Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg292His Single submitter Cardiovascular phenotype ⚠
• p.Arg292Leu Single submitter Cardiovascular phenotype ⚠
• p.Arg365Ser Single submitter cardiomyopathy ⚠
• p.Arg3Gln Single submitter arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Arg46= Single submitter arrhythmogenic right ventricular cardiomyopathy
• p.Arg49= Single submitter Cardiovascular phenotype
• p.Arg49Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg548His Single submitter Cardiovascular phenotype ⚠
• p.Arg728fs Single submitter cardiomyopathy
• p.Arg824Cys Single submitter cardiomyopathy ⚠
• p.Arg824His Single submitter Cardiovascular phenotype ⚠
• p.Arg915Thr Single submitter Cardiovascular phenotype ⚠
• p.Arg966Thr Single submitter Cardiovascular phenotype ⚠
• p.Asn182Ser Single submitter Cardiovascular phenotype ⚠
• p.Asn284= Single submitter Cardiovascular phenotype
• p.Asn284fs Single submitter arrhythmogenic right ventricular cardiomyopathy
• p.Asn330= Single submitter Cardiovascular phenotype
• p.Asn33Thr Single submitter Cardiovascular phenotype ⚠
• p.Asn488Ser Single submitter cardiomyopathy ⚠
• p.Asn493= Single submitter arrhythmogenic right ventricular cardiomyopathy
• p.Asn493Ser Single submitter Cardiovascular phenotype ⚠
• p.Asn575Ser Single submitter Cardiovascular phenotype ⚠
• p.Asn789Ser Single submitter cardiomyopathy ⚠
• p.Asn880His Single submitter Cardiovascular phenotype ⚠
• p.Asp162Glu Single submitter Cardiovascular phenotype ⚠
• p.Asp402Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp435Asn Single submitter arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Asp494Ala Single submitter Cardiovascular phenotype ⚠
• p.Asp509Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp787Gly Single submitter Cardiovascular phenotype ⚠
• p.Asp794fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Asp828= Single submitter Cardiovascular phenotype
• p.Cys496fs Single submitter Cardiovascular phenotype
• p.Cys591_Glu592delinsTer Single submitter Cardiovascular phenotype
• p.Cys814= Single submitter cardiomyopathy
• p.Gln257Arg Single submitter Cardiovascular phenotype ⚠
• p.Gln285Ter Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Gln558Arg Single submitter cardiomyopathy ⚠
• p.Gln569His Single submitter Cardiovascular phenotype ⚠
• p.Gln584Ter Single submitter arrhythmogenic right ventricular cardiomyopathy
• p.Gln677His Single submitter arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Gln731Pro Single submitter Cardiovascular phenotype ⚠
• p.Gln853Arg Single submitter Cardiovascular phenotype ⚠
• p.Gln959fs Single submitter Cardiovascular phenotype
• p.Glu1018fs Single submitter cardiomyopathy
• p.Glu1020fs Single submitter Cardiovascular phenotype
• p.Glu144Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu156fs Single submitter Cardiovascular phenotype
• p.Glu156Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu501Asp Single submitter DSG2-related disorder ⚠
• p.Glu542Gln Single submitter arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Glu601fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Glu769Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu852Ter Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Glu982Lys Single submitter arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Gly1089Val Single submitter arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Gly1094_His1095delinsValAsn Single submitter Cardiovascular phenotype
• p.Gly166fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Gly598Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly638Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly640= Single submitter Cardiovascular phenotype
• p.Gly678Ala Single submitter Cardiovascular phenotype ⚠
• p.Gly679Val Single submitter Cardiovascular phenotype ⚠
• p.Gly812Cys Single submitter Cardiovascular phenotype ⚠
• p.Gly812Ser Single submitter Cardiovascular phenotype ⚠
• p.His1095Asn Single submitter Cardiovascular phenotype ⚠
• p.His425Arg Single submitter cardiomyopathy ⚠
• p.His595Arg Single submitter arrhythmogenic right ventricular cardiomyopathy ⚠
• p.His604Arg Single submitter arrhythmogenic right ventricular cardiomyopathy ⚠
• p.His721Arg Single submitter Cardiovascular phenotype ⚠
• p.His74Arg Single submitter cardiomyopathy ⚠
• p.His790Tyr Single submitter Cardiovascular phenotype ⚠
• p.Ile1038Thr Single submitter cardiomyopathy ⚠
• p.Ile1038Val Single submitter Cardiovascular phenotype ⚠
• p.Ile269Thr Single submitter Cardiovascular phenotype ⚠
• p.Ile293Leu Single submitter Cardiovascular phenotype ⚠
• p.Ile353fs Single submitter cardiomyopathy
• p.Ile500Arg Single submitter Cardiovascular phenotype ⚠
• p.Ile704Met Single submitter arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Ile739Phe Single submitter arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ile851fs Single submitter cardiomyopathy
• p.Ile85fs Single submitter arrhythmogenic right ventricular cardiomyopathy
• p.Ile906Val Single submitter arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ile934Val Single submitter Cardiovascular phenotype ⚠
• p.Leu13Phe Single submitter Cardiovascular phenotype ⚠
• p.Leu15= Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Leu171Phe Single submitter Cardiovascular phenotype ⚠
• p.Leu277_Met280del Single submitter Cardiovascular phenotype
• p.Leu29Ser Single submitter Cardiovascular phenotype ⚠
• p.Leu431Ser Single submitter Cardiovascular phenotype ⚠
• p.Leu563Arg Single submitter Cardiovascular phenotype ⚠
• p.Leu586= Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Leu594Pro Single submitter Cardiovascular phenotype ⚠
• p.Leu627= Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Leu772Ter Single submitter arrhythmogenic right ventricular cardiomyopathy
• p.Leu836Val Single submitter arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Leu953fs Single submitter cardiomyopathy
• p.Leu974_Val975insTer Single submitter Cardiovascular phenotype
• p.Lys346del Single submitter Cardiovascular phenotype
• p.Lys36= Single submitter cardiomyopathy
• p.Lys66Gln Single submitter Cardiovascular phenotype ⚠
• p.Lys844_Ile845insTer Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Lys901Arg Single submitter arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Met1069Val Single submitter Cardiovascular phenotype ⚠
• p.Met1Ile Single submitter arrhythmogenic right ventricular cardiomyopathy
• p.Met1Leu Single submitter cardiomyopathy
• p.Met757Thr Single submitter Cardiovascular phenotype ⚠
• p.Met875Val Single submitter Cardiovascular phenotype ⚠
• p.Phe531Cys Single submitter Cardiovascular phenotype ⚠
• p.Phe644= Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Phe776Leu Single submitter Cardiovascular phenotype ⚠
• p.Pro1082Ala Single submitter Cardiovascular phenotype ⚠
• p.Pro453= Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Pro857Ser Single submitter Cardiovascular phenotype ⚠
• p.Pro927Leu Single submitter Cardiovascular phenotype ⚠
• p.Ser1059Thr Single submitter Cardiovascular phenotype ⚠
• p.Ser1098Cys Single submitter Cardiovascular phenotype ⚠
• p.Ser1118Phe Single submitter Cardiovascular phenotype ⚠
• p.Ser194Leu Single submitter Cardiovascular phenotype ⚠
• p.Ser559Asn Single submitter arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Ser699Ile Single submitter Cardiovascular phenotype ⚠
• p.Ser726= Single submitter Cardiovascular phenotype
• p.Ser782fs Single submitter arrhythmogenic right ventricular cardiomyopathy
• p.Ser883Phe Single submitter Cardiovascular phenotype ⚠
• p.Ser960Arg Single submitter Cardiovascular phenotype ⚠
• p.Ser999Pro Single submitter Cardiovascular phenotype ⚠
• p.Thr1032Ile Single submitter cardiomyopathy ⚠
• p.Thr1075Met Single submitter Cardiovascular phenotype ⚠
• p.Thr1099Ala Single submitter Cardiovascular phenotype ⚠
• p.Thr217fs Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Thr226Asn Single submitter arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Thr236Ala Single submitter Cardiovascular phenotype ⚠
• p.Thr238Ile Single submitter Cardiovascular phenotype ⚠
• p.Thr291Met Single submitter Cardiovascular phenotype ⚠
• p.Thr335Ala Single submitter Cardiovascular phenotype ⚠
• p.Thr371fs Single submitter Cardiovascular phenotype
• p.Thr464= Single submitter Cardiovascular phenotype
• p.Thr480fs Single submitter arrhythmogenic right ventricular cardiomyopathy
• p.Thr695Met Single submitter Cardiovascular phenotype ⚠
• p.Thr745Met Single submitter Cardiovascular phenotype ⚠
• p.Thr751Ile Single submitter Cardiovascular phenotype ⚠
• p.Thr861Ala Single submitter Cardiovascular phenotype ⚠
• p.Thr874fs Single submitter Cardiovascular phenotype
• p.Thr881= Single submitter Cardiovascular phenotype
• p.Thr881Ile Single submitter arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Thr90Ile Single submitter Cardiovascular phenotype ⚠
• p.Thr922fs Single submitter Cardiovascular phenotype
• p.Thr945Ala Single submitter Cardiovascular phenotype ⚠
• p.Tyr1013fs Single submitter cardiomyopathy
• p.Tyr1013Ter Single submitter Cardiovascular phenotype
• p.Tyr130= Single submitter Cardiovascular phenotype
• p.Tyr207_Pro209delinsTer Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Tyr459Cys Single submitter Cardiovascular phenotype ⚠
• p.Tyr87Ter Single submitter cardiomyopathy
• p.Tyr940fs Single submitter cardiomyopathy
• p.Val1014Ile Single submitter Cardiovascular phenotype ⚠
• p.Val1016= Single submitter cardiomyopathy
• p.Val149= Single submitter Cardiovascular phenotype
• p.Val165Ala Single submitter arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Val201Ile Single submitter Cardiovascular phenotype ⚠
• p.Val239Ala Single submitter Cardiovascular phenotype ⚠
• p.Val28= Single submitter Cardiovascular phenotype
• p.Val288Ile Single submitter Cardiovascular phenotype ⚠
• p.Val295Ala Single submitter cardiomyopathy ⚠
• p.Val334Met Single submitter Cardiovascular phenotype ⚠
• p.Val392Ile Single submitter Cardiovascular phenotype ⚠
• p.Val440= Single submitter arrhythmogenic right ventricular dysplasia 10
• p.Val533Ile Single submitter Cardiovascular phenotype ⚠
• p.Val56Met Single submitter Cardiovascular phenotype ⚠
• p.Val986fs Single submitter Cardiovascular phenotype
• p.Val987Phe Single submitter Cardiovascular phenotype ⚠

Benign 48

• c.1014+219G>T Multiple submitters
• c.1014+266T>C Multiple submitters
• c.1014+27G>A Multiple submitters
• c.1280+17C>T Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.1651+70T>C Multiple submitters
• c.2002-135A>G Multiple submitters
• c.2002-216T>C Multiple submitters
• c.217-65C>G Multiple submitters
• c.523+23_523+24del Multiple submitters cardiomyopathy
• c.523+24del Multiple submitters cardiomyopathy
• c.523+24T>A Multiple submitters
• c.524-9T>A Multiple submitters cardiomyopathy
• c.81+108C>T Multiple submitters
• c.81+86G>A Multiple submitters
• c.828+16C>A Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.*1339G>A Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.*1866T>C Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.*565A>G Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Arg773Lys Multiple submitters Cardiovascular phenotype
• p.Asn287= Multiple submitters Cardiovascular phenotype
• p.Gly737= Multiple submitters cardiomyopathy
• p.Lys856Asn Multiple submitters cardiomyopathy
• p.Ser862= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Val1107= Multiple submitters Cardiovascular phenotype
• c.1015-180C>A Single submitter
• c.1280+149G>A Single submitter
• c.1280+234A>G Single submitter
• c.1280+287C>A Single submitter
• c.1424-255T>A Single submitter
• c.1879+317T>C Single submitter
• c.1880-281T>C Single submitter
• c.2001+211C>T Single submitter
• c.2001+244G>C Single submitter
• c.2001+308C>T Single submitter
• c.2334+121del Single submitter
• c.2335-200dup Single submitter
• c.45+257A>C Single submitter
• c.45+7490C>T Single submitter
• c.523+252A>G Single submitter
• c.523+9C>T Single submitter
• c.524-243G>C Single submitter
• c.690+62_690+66del Single submitter
• c.691-147T>C Single submitter
• c.691-207G>A Single submitter
• c.691-276A>G Single submitter
• c.81+237A>G Single submitter
• c.-37G>C Single submitter
• p.Arg1019= Single submitter

Benign/Likely benign 38

• c.1280+18G>C Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.1652-12C>T Multiple submitters cardiomyopathy
• c.1652-8C>T Multiple submitters cardiomyopathy
• c.216+16G>A Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.217-5G>T Multiple submitters cardiomyopathy
• c.45+16G>C Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.45+17G>A Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.523+24dup Multiple submitters cardiomyopathy
• c.81+10C>T Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.829-19_829-18del Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.-94G>C Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Ala206= Multiple submitters cardiomyopathy
• p.Arg261= Multiple submitters Cardiovascular phenotype
• p.Arg478= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Asn19= Multiple submitters Cardiovascular phenotype
• p.Asn19Asp Multiple submitters cardiomyopathy
• p.Cys637= Multiple submitters Cardiovascular phenotype
• p.Glu713Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1028Ser Multiple submitters Cardiovascular phenotype
• p.Gly1089Asp Multiple submitters Cardiovascular phenotype
• p.Gly638= Multiple submitters Cardiovascular phenotype
• p.Ile962Met Multiple submitters Cardiovascular phenotype
• p.Leu625= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Lys901= Multiple submitters Cardiovascular phenotype
• p.Met863Leu Multiple submitters Cardiovascular phenotype
• p.Phe99= Multiple submitters Cardiovascular phenotype
• p.Pro497= Multiple submitters Cardiovascular phenotype
• p.Ser351Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Ser883Pro Multiple submitters cardiomyopathy ⚠
• p.Thr1045= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Thr1070Met Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Thr903Ile Multiple submitters cardiomyopathy
• p.Tyr89Cys Multiple submitters cardiomyopathy ⚠
• p.Val1081= Multiple submitters Cardiovascular phenotype
• p.Val158Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Val515Ile Multiple submitters cardiomyopathy
• p.Val920Gly Multiple submitters Cardiovascular phenotype
• p.Asn932= No assertion criteria

Likely benign 548

Showing the top 300 by review status; the full set is in the sitemap.

• c.1281-16G>T Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.1424-10T>C Multiple submitters cardiomyopathy
• c.1652-5T>C Multiple submitters cardiomyopathy
• c.1880-11T>C Multiple submitters cardiomyopathy
• c.2001+20A>G Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.216+14_216+15del Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.217-7A>G Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.2334+135A>G Multiple submitters
• c.2334+35T>G Multiple submitters
• c.2335-12_2335-8dup Multiple submitters cardiomyopathy
• c.2335-7A>C Multiple submitters cardiomyopathy
• c.2335-8C>G Multiple submitters cardiomyopathy
• c.379-22_379-18del Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.379-4T>C Multiple submitters Cardiovascular phenotype
• c.46-11T>C Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.523+20T>C Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.524-6T>C Multiple submitters cardiomyopathy
• c.691-12A>G Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.691-15T>C Multiple submitters cardiomyopathy
• c.82-10A>G Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• c.82-12C>T Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.82-19C>G Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.82-4A>G Multiple submitters Cardiovascular phenotype
• c.828+13C>T Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.829-4G>A Multiple submitters Cardiovascular phenotype
• c.829-9G>A Multiple submitters cardiomyopathy
• p.Ala10= Multiple submitters cardiomyopathy
• p.Ala186= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Ala313= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Ala547Val Multiple submitters cardiomyopathy
• p.Ala616= Multiple submitters Cardiovascular phenotype
• p.Ala780= Multiple submitters Cardiovascular phenotype
• p.Ala792= Multiple submitters Cardiovascular phenotype
• p.Ala897= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Ala917= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Ala917Val Multiple submitters Cardiovascular phenotype
• p.Ala971= Multiple submitters Cardiovascular phenotype
• p.Arg1049= Multiple submitters Cardiovascular phenotype
• p.Arg1072= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Arg365= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Arg403= Multiple submitters cardiomyopathy
• p.Arg7= Multiple submitters cardiomyopathy
• p.Arg824= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Arg854= Multiple submitters Cardiovascular phenotype
• p.Arg966= Multiple submitters cardiomyopathy
• p.Asn1097= Multiple submitters Cardiovascular phenotype
• p.Asn153= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Asn155= Multiple submitters Cardiovascular phenotype
• p.Asn305= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Asn658= Multiple submitters Cardiovascular phenotype
• p.Asn768= Multiple submitters Cardiovascular phenotype
• p.Asn864= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Asp1010= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Asp187= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Asp216= Multiple submitters Cardiovascular phenotype
• p.Asp297= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Asp304= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Asp417= Multiple submitters Cardiovascular phenotype
• p.Asp433= Multiple submitters Cardiovascular phenotype
• p.Asp666= Multiple submitters Cardiovascular phenotype
• p.Asp756= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Asp846= Multiple submitters Cardiovascular phenotype
• p.Gln1058= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Gln584= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Gln873= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Gln904= Multiple submitters cardiomyopathy
• p.Gln918= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Glu1003= Multiple submitters cardiomyopathy
• p.Glu1066= Multiple submitters Cardiovascular phenotype
• p.Glu156= Multiple submitters Cardiovascular phenotype
• p.Glu188= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Glu231= Multiple submitters Cardiovascular phenotype
• p.Glu240= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Glu278= Multiple submitters cardiomyopathy
• p.Glu282= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Glu339= Multiple submitters Cardiovascular phenotype
• p.Glu511= Multiple submitters cardiomyopathy
• p.Glu60= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Glu665= Multiple submitters cardiomyopathy
• p.Glu786= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Glu805= Multiple submitters Cardiovascular phenotype
• p.Gly1094Val Multiple submitters Cardiovascular phenotype
• p.Gly166= Multiple submitters cardiomyopathy
• p.Gly332= Multiple submitters cardiomyopathy
• p.Gly6= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Gly649= Multiple submitters cardiomyopathy
• p.Gly661= Multiple submitters cardiomyopathy
• p.Gly91= Multiple submitters Cardiovascular phenotype
• p.Gly983= Multiple submitters cardiomyopathy
• p.Gly996= Multiple submitters Cardiovascular phenotype
• p.Gly997= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.His232= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.His41Asn Multiple submitters Cardiovascular phenotype
• p.His508= Multiple submitters Cardiovascular phenotype
• p.His709= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.His74= Multiple submitters Cardiovascular phenotype
• p.Ile200= Multiple submitters Cardiovascular phenotype
• p.Ile373= Multiple submitters Cardiovascular phenotype
• p.Ile492= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Ile952= Multiple submitters Cardiovascular phenotype
• p.Leu1057= Multiple submitters Cardiovascular phenotype
• p.Leu11= Multiple submitters Cardiovascular phenotype
• p.Leu145= Multiple submitters Cardiovascular phenotype
• p.Leu171= Multiple submitters cardiomyopathy
• p.Leu227= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Leu263= Multiple submitters Cardiovascular phenotype
• p.Leu422= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Leu486= Multiple submitters cardiomyopathy
• p.Leu556= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Leu623= Multiple submitters Cardiovascular phenotype
• p.Leu64= Multiple submitters Cardiovascular phenotype
• p.Leu654= Multiple submitters cardiomyopathy
• p.Leu681= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Leu724= Multiple submitters cardiomyopathy
• p.Leu807= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Leu807= Multiple submitters cardiomyopathy
• p.Lys148= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Lys346= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Phe296= Multiple submitters Cardiovascular phenotype
• p.Phe388= Multiple submitters Cardiovascular phenotype
• p.Phe570= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Phe622= Multiple submitters cardiomyopathy
• p.Pro123= Multiple submitters cardiomyopathy
• p.Pro142= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Pro157= Multiple submitters cardiomyopathy
• p.Pro189= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Pro370= Multiple submitters Cardiovascular phenotype
• p.Pro5= Multiple submitters Cardiovascular phenotype
• p.Pro581= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Pro612= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Pro629= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Pro646= Multiple submitters cardiomyopathy
• p.Pro670= Multiple submitters Cardiovascular phenotype
• p.Pro97= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Ser1103= Multiple submitters Cardiovascular phenotype
• p.Ser1111= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Ser1118= Multiple submitters Cardiovascular phenotype
• p.Ser194= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Ser314= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Ser363= Multiple submitters Cardiovascular phenotype
• p.Ser391= Multiple submitters Cardiovascular phenotype
• p.Ser398= Multiple submitters cardiomyopathy
• p.Ser4= Multiple submitters Cardiovascular phenotype
• p.Ser439= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Ser526= Multiple submitters Cardiovascular phenotype
• p.Ser532= Multiple submitters Cardiovascular phenotype
• p.Ser597= Multiple submitters Cardiovascular phenotype
• p.Ser700= Multiple submitters Cardiovascular phenotype
• p.Ser712= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Ser723= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Ser913= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Ser914= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Ser956= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Ser972= Multiple submitters Cardiovascular phenotype
• p.Ser999= Multiple submitters Cardiovascular phenotype
• p.Thr1065= Multiple submitters Cardiovascular phenotype
• p.Thr1070= Multiple submitters Cardiovascular phenotype
• p.Thr1075= Multiple submitters Cardiovascular phenotype
• p.Thr1102= Multiple submitters Cardiovascular phenotype
• p.Thr1105= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Thr291= Multiple submitters Cardiovascular phenotype
• p.Thr444= Multiple submitters cardiomyopathy
• p.Thr516= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Thr695= Multiple submitters Cardiovascular phenotype
• p.Thr791= Multiple submitters cardiomyopathy
• p.Thr835= Multiple submitters cardiomyopathy
• p.Thr861= Multiple submitters Cardiovascular phenotype
• p.Thr922= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Thr942= Multiple submitters cardiomyopathy
• p.Thr973Ala Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Tyr1013= Multiple submitters Cardiovascular phenotype
• p.Tyr396= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Tyr428= Multiple submitters Cardiovascular phenotype
• p.Tyr459= Multiple submitters Cardiovascular phenotype
• p.Tyr512= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Tyr607= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Tyr799= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Val1040Ile Multiple submitters Cardiovascular phenotype ⚠
• p.Val1076= Multiple submitters cardiomyopathy
• p.Val158= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Val20= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Val225= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Val265= Multiple submitters Cardiovascular phenotype
• p.Val288= Multiple submitters cardiomyopathy
• p.Val295= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Val352= Multiple submitters Cardiovascular phenotype
• p.Val470= Multiple submitters cardiomyopathy
• p.Val705= Multiple submitters cardiomyopathy
• p.Val876= Multiple submitters Cardiovascular phenotype
• p.Val933= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Val941= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Val951= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• c.1014+11A>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1014+12G>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1014+15T>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1014+17C>T Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1014+18A>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1015-14G>C Single submitter cardiomyopathy
• c.1015-19C>T Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1015-71ATGTAT[2] Single submitter
• c.1015-9C>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1280+14A>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1280+15C>T Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1280+15del Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1280+16A>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1280+18G>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1280+7G>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1280+8A>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1280+9G>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1281-12G>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1281-16G>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1281-5G>T Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1281-7A>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1423+13A>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1423+19C>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1424-10del Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1424-12C>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1424-17T>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1424-8T>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1651+15T>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1652-11C>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1652-13C>T Single submitter cardiomyopathy
• c.1652-15C>T Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1652-19C>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1652-4G>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1652-9A>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1879+104C>T Single submitter
• c.1879+16_1879+26del Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1879+17C>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1879+19C>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1879+19C>T Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1880-10G>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1880-12G>T Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1880-6G>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.1880-7T>C Single submitter cardiomyopathy
• c.2001+15T>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.2001+16G>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.2001+20A>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.2001+9A>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.2002-10G>T Single submitter arrhythmogenic right ventricular cardiomyopathy
• c.216+197C>T Single submitter
• c.216+19C>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.216+20A>C Single submitter
• c.216+20A>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.216+8del Single submitter cardiomyopathy
• c.217-19C>T Single submitter arrhythmogenic right ventricular dysplasia 10
• c.217-7_217-6del Single submitter arrhythmogenic right ventricular dysplasia 10
• c.2334+10_2334+11del Single submitter arrhythmogenic right ventricular dysplasia 10
• c.2334+11G>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.2334+17T>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.2334+18G>T Single submitter arrhythmogenic right ventricular dysplasia 10
• c.2334+8T>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.2334+8T>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.2335-19T>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.2335-30del Single submitter
• c.378+16T>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.378+8_378+10del Single submitter arrhythmogenic right ventricular dysplasia 10
• c.379-10A>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.379-18T>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.379-20T>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.379-6T>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.45+10G>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.45+15del Single submitter arrhythmogenic right ventricular dysplasia 10
• c.45+18G>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.45+18G>T Single submitter arrhythmogenic right ventricular dysplasia 10
• c.45+19A>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.45+7510T>G Single submitter
• c.45+8C>T Single submitter arrhythmogenic right ventricular dysplasia 10
• c.46-12T>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.46-14A>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.46-20C>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.46-9A>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.523+19T>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.523+269A>G Single submitter
• c.523+8T>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.523+9del Single submitter arrhythmogenic right ventricular dysplasia 10
• c.524-13T>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.524-16T>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.524-18C>T Single submitter arrhythmogenic right ventricular dysplasia 10
• c.524-20A>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.524-271C>T Single submitter
• c.524-4C>T Single submitter arrhythmogenic right ventricular dysplasia 10
• c.524-8A>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.690+12T>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.690+14T>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.690+170T>C Single submitter
• c.690+17T>C Single submitter arrhythmogenic right ventricular dysplasia 10
• c.690+8A>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.691-14T>G Single submitter cardiomyopathy
• c.691-8C>T Single submitter arrhythmogenic right ventricular dysplasia 10
• c.691-9G>A Single submitter cardiomyopathy
• c.81+10C>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.81+11A>G Single submitter
• c.81+13A>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.81+14G>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.81+15G>A Single submitter arrhythmogenic right ventricular dysplasia 10
• c.81+16G>T Single submitter Cardiovascular phenotype
• c.81+17A>G Single submitter dilated cardiomyopathy 1BB
• c.81+7A>G Single submitter arrhythmogenic right ventricular dysplasia 10
• c.81+8_81+9insGGC Single submitter arrhythmogenic right ventricular dysplasia 10

Uncertain significance 1198

Showing the top 300 by review status; the full set is in the sitemap.

• c.1014+5G>T Multiple submitters cardiomyopathy
• c.1423+5del Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.216+2T>C Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.216+3A>C Multiple submitters Cardiovascular phenotype
• c.45+5G>C Multiple submitters Cardiovascular phenotype
• c.46-14A>G Multiple submitters arrhythmogenic right ventricular dysplasia 10
• c.46-2A>C Multiple submitters Cardiovascular phenotype
• c.691-5T>A Multiple submitters cardiomyopathy
• c.828_828+2del Multiple submitters Cardiovascular phenotype
• c.829-3C>A Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• c.-11G>A Multiple submitters cardiomyopathy
• c.-12G>A Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• c.-3G>A Multiple submitters Cardiovascular phenotype
• c.*211A>G Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Ala1034Val Multiple submitters cardiomyopathy ⚠
• p.Ala1039Val Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Ala1054Pro Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Ala131Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Ala186Val Multiple submitters cardiomyopathy ⚠
• p.Ala241Thr Multiple submitters cardiomyopathy ⚠
• p.Ala298Gly Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ala298Ser Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ala298Val Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ala355Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala358Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala50Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Ala510Thr Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ala517Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Ala541Gly Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ala547Thr Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Ala54Thr Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ala54Val Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Ala57Val Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ala613Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala662Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala691Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Ala694Gly Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Ala702Thr Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ala750Thr Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Ala762Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Ala763Thr Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ala781Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Ala78Glu Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Ala809Val Multiple submitters cardiomyopathy ⚠
• p.Ala837Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Ala837Thr Multiple submitters cardiomyopathy ⚠
• p.Ala897Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Ala899Val Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1049fs Multiple submitters Cardiovascular phenotype
• p.Arg1049Ile Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Arg1049Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1106Ser Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Arg119Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg146Cys Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Arg146His Multiple submitters cardiomyopathy ⚠
• p.Arg261Cys Multiple submitters cardiomyopathy ⚠
• p.Arg427Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Arg458Ile Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Arg548Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg548Gly Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Arg548Leu Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Arg59Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg59Trp Multiple submitters cardiomyopathy ⚠
• p.Arg600Ser Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Arg722Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg728Lys Multiple submitters cardiomyopathy ⚠
• p.Arg755Gly Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Arg7Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Arg824Gly Multiple submitters cardiomyopathy ⚠
• p.Arg854Ser Multiple submitters cardiomyopathy ⚠
• p.Arg990Lys Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Asn1043Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Asn112Ser Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Asn153Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Asn155Tyr Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Asn268Ile Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Asn274Asp Multiple submitters cardiomyopathy ⚠
• p.Asn287Lys Multiple submitters cardiomyopathy ⚠
• p.Asn305Ser Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Asn330Asp Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Asn330Lys Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Asn33Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Asn35Lys Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Asn35Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Asn493Asp Multiple submitters cardiomyopathy ⚠
• p.Asn495Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Asn495Tyr Multiple submitters cardiomyopathy ⚠
• p.Asn514Asp Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Asn514Ile Multiple submitters Cardiovascular phenotype ⚠
• p.Asn898Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Asn932Lys Multiple submitters cardiomyopathy ⚠
• p.Asp151Asn Multiple submitters cardiomyopathy ⚠
• p.Asp250Tyr Multiple submitters cardiomyopathy ⚠
• p.Asp267Gly Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Asp297Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp297Val Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Asp326Val Multiple submitters Cardiovascular phenotype ⚠
• p.Asp349Asn Multiple submitters cardiomyopathy ⚠
• p.Asp417Asn Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Asp417Val Multiple submitters cardiomyopathy ⚠
• p.Asp419Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp419Val Multiple submitters Cardiovascular phenotype ⚠
• p.Asp433Gly Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Asp433Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.Asp475His Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Asp494Asn Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Asp509Glu Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Asp519Glu Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Asp519His Multiple submitters Cardiovascular phenotype ⚠
• p.Asp519Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.Asp521Asn Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Asp521Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Asp535Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Asp574Glu Multiple submitters cardiomyopathy ⚠
• p.Asp605Val Multiple submitters Cardiovascular phenotype ⚠
• p.Asp666His Multiple submitters Cardiovascular phenotype ⚠
• p.Asp676Asn Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Asp715Tyr Multiple submitters cardiomyopathy ⚠
• p.Asp778Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp823Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Asp827His Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Asp846Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.Cys496Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.Cys507Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.Cys591Arg Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Cys599Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Cys599Phe Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Cys635Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Cys813Arg Multiple submitters cardiomyopathy ⚠
• p.Cys813Phe Multiple submitters Cardiovascular phenotype ⚠
• p.Gln1114_His1115insGln Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Gln1114Glu Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Gln1114Pro Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Gln1114Ter Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Gln27= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Gln328Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gln461Glu Multiple submitters cardiomyopathy ⚠
• p.Gln557Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gln569Arg Multiple submitters cardiomyopathy ⚠
• p.Gln576Leu Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Gln584_Leu594del Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Gln904Glu Multiple submitters cardiomyopathy ⚠
• p.Gln957Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gln959Arg Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Glu1048_Pro1053dup Multiple submitters Cardiovascular phenotype
• p.Glu188Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu230= Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Glu230Lys Multiple submitters cardiomyopathy ⚠
• p.Glu240Ala Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Glu273Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Glu283del Multiple submitters cardiomyopathy
• p.Glu289Asp Multiple submitters cardiomyopathy ⚠
• p.Glu300Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu331Lys Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Glu399Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu511Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Glu511Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Glu518Gly Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Glu550Gly Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Glu582Lys Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Glu693Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Glu713Ala Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Glu713Asp Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Glu743_Thr744del Multiple submitters arrhythmogenic right ventricular cardiomyopathy
• p.Glu770Lys Multiple submitters cardiomyopathy ⚠
• p.Glu802Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Glu80Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu820Gly Multiple submitters cardiomyopathy ⚠
• p.Glu872Asp Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Glu872Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Glu879Gly Multiple submitters cardiomyopathy ⚠
• p.Glu900Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Glu905Ala Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Glu905Lys Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Glu909Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Glu965Lys Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Glu96Val Multiple submitters cardiomyopathy ⚠
• p.Gly100Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1078Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1078Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1094Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1094Asp Multiple submitters cardiomyopathy ⚠
• p.Gly129Cys Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Gly302Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly302Ser Multiple submitters cardiomyopathy ⚠
• p.Gly315Arg Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Gly319Ser Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Gly332Arg Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Gly385Asp Multiple submitters cardiomyopathy ⚠
• p.Gly407Asp Multiple submitters cardiomyopathy ⚠
• p.Gly421Glu Multiple submitters cardiomyopathy ⚠
• p.Gly483Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Gly577Ala Multiple submitters cardiomyopathy ⚠
• p.Gly577Arg Multiple submitters cardiomyopathy ⚠
• p.Gly609Val Multiple submitters Cardiovascular phenotype ⚠
• p.Gly611Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly61Val Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Gly640Val Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Gly649Ser Multiple submitters cardiomyopathy ⚠
• p.Gly679Ser Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Gly683Arg Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Gly688Glu Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Gly727Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Gly752Trp Multiple submitters DSG2-related disorder ⚠
• p.Gly759Ala Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Gly759Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly812Asp Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Gly82Arg Multiple submitters cardiomyopathy ⚠
• p.Gly82Val Multiple submitters Cardiovascular phenotype ⚠
• p.Gly842Asp Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Gly91Arg Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Gly954Asp Multiple submitters cardiomyopathy ⚠
• p.Gly954Cys Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Gly983Asp Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Gly996Glu Multiple submitters cardiomyopathy ⚠
• p.Gly997Arg Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.His1110Arg Multiple submitters Cardiovascular phenotype ⚠
• p.His175Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.His25Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.His41Leu Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.His425Pro Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.His43Arg Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.His43Tyr Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.His655Leu Multiple submitters Cardiovascular phenotype ⚠
• p.His74Asn Multiple submitters cardiomyopathy ⚠
• p.His995Pro Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.His995Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.Ile101Met Multiple submitters Cardiovascular phenotype ⚠
• p.Ile1100Val Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ile16Phe Multiple submitters cardiomyopathy ⚠
• p.Ile16Thr Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Ile16Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ile262Val Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ile301Thr Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ile323Thr Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Ile323Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ile333Thr Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Ile337Met Multiple submitters cardiomyopathy ⚠
• p.Ile353Thr Multiple submitters cardiomyopathy ⚠
• p.Ile469Thr Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ile481Val Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ile487Ser Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ile487Thr Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Ile492Thr Multiple submitters cardiomyopathy ⚠
• p.Ile492Val Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Ile500Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ile615Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ile651Thr Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ile704Thr Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Ile704Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ile70Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ile739Leu Multiple submitters cardiomyopathy ⚠
• p.Ile739Val Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Ile845Thr Multiple submitters cardiomyopathy ⚠
• p.Ile847Lys Multiple submitters cardiomyopathy ⚠
• p.Ile85Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ile934Leu Multiple submitters Cardiovascular phenotype ⚠
• p.Ile962Thr Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Ile992Met Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Ile992Thr Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Ile992Val Multiple submitters Cardiovascular phenotype ⚠
• p.Leu1057Val Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Leu13Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Leu15del Multiple submitters Cardiovascular phenotype
• p.Leu177Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Leu307Arg Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Leu307Met Multiple submitters cardiomyopathy ⚠
• p.Leu307Val Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Leu336Phe Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Leu38Phe Multiple submitters cardiomyopathy ⚠
• p.Leu44Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Leu452Arg Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Leu499Pro Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Leu588Phe Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Leu588Val Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Leu58Val Multiple submitters Cardiovascular phenotype ⚠
• p.Leu610Pro Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Leu626= Multiple submitters arrhythmogenic right ventricular dysplasia 10
• p.Leu630Phe Multiple submitters cardiomyopathy ⚠
• p.Leu632Met Multiple submitters Cardiovascular phenotype ⚠
• p.Leu64Val Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Leu807Pro Multiple submitters cardiomyopathy ⚠
• p.Leu831Phe Multiple submitters cardiomyopathy ⚠
• p.Leu831Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Leu836Pro Multiple submitters cardiomyopathy ⚠
• p.Leu870Arg Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Leu894Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Leu961Phe Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Lys148Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Lys294Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Lys338Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Lys338Met Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Lys367Arg Multiple submitters cardiomyopathy ⚠
• p.Lys369Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Lys369Met Multiple submitters Cardiovascular phenotype ⚠
• p.Lys36Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Lys376Asn Multiple submitters cardiomyopathy ⚠
• p.Lys378Glu Multiple submitters arrhythmogenic right ventricular cardiomyopathy ⚠
• p.Lys40Arg Multiple submitters arrhythmogenic right ventricular dysplasia 10 ⚠
• p.Lys479Glu Multiple submitters cardiomyopathy ⚠