HCN4 — 2099 ClinVar variants

Pathogenic 6

• p.Ala414Gly No assertion criteria sick sinus syndrome 2, autosomal dominant
• p.Glu580Asp No assertion criteria Left ventricular noncompaction cardiomyopathy
• p.Gly480Arg No assertion criteria sick sinus syndrome 2, autosomal dominant
• p.Lys645fs No assertion criteria sick sinus syndrome 2, autosomal dominant
• p.Pro544fs No assertion criteria sick sinus syndrome 2, autosomal dominant
• p.Ser672Arg No assertion criteria sick sinus syndrome 2, autosomal dominant

Pathogenic/Likely pathogenic 6

• p.Ala485Val Multiple submitters Left ventricular noncompaction cardiomyopathy
• p.Arg375Cys Multiple submitters Brugada syndrome 8
• p.Gly480Ser Multiple submitters HCN4-related disorder
• p.Gly482Arg Multiple submitters Cardiovascular phenotype
• p.Tyr354Cys Multiple submitters HCN4-related disorder
• p.Tyr481His Multiple submitters Cardiovascular phenotype

Likely pathogenic 8

• c.2143+1G>A Multiple submitters Brugada syndrome 8
• p.Gly480Val Multiple submitters Brugada syndrome 8
• p.Tyr481Cys Multiple submitters Brugada syndrome 8
• c.1591-1861_2867del Single submitter sick sinus syndrome 2, autosomal dominant
• p.Ala840fs Single submitter Brugada syndrome 8
• p.Asp491His Single submitter Brugada syndrome 8
• p.Cys478Tyr Single submitter HCN4-related disorder
• p.Gly482Glu Single submitter Left ventricular noncompaction cardiomyopathy

Conflicting classifications of pathogenicity 86

• c.1371+9G>A Single submitter Brugada syndrome 8
• c.1979-7C>T Single submitter Brugada syndrome 8
• c.*1085A>C Single submitter sick sinus syndrome 2, autosomal dominant
• p.Ala101Val Single submitter Cardiovascular phenotype ⚠
• p.Ala195Val Single submitter Cardiovascular phenotype ⚠
• p.Ala756Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala763Asp Single submitter Cardiovascular phenotype ⚠
• p.Ala765Gly Single submitter Brugada syndrome 8 ⚠
• p.Ala836Val Single submitter Brugada syndrome 8 ⚠
• p.Ala869Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala901Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala913Val Single submitter Cardiovascular phenotype ⚠
• p.Ala944Thr Single submitter Brugada syndrome 8 ⚠
• p.Arg1044Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg1069Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg1102Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg1102His Single submitter Brugada syndrome 8 ⚠
• p.Arg1154Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg207= Single submitter Cardiovascular phenotype
• p.Arg375His Single submitter Cardiovascular phenotype ⚠
• p.Arg378Cys Single submitter HCN4-related disorder ⚠
• p.Arg483Gln Single submitter Brugada syndrome 8 ⚠
• p.Arg758His Single submitter Cardiovascular phenotype ⚠
• p.Arg800His Single submitter Brugada syndrome 8 ⚠
• p.Arg807His Single submitter Brugada syndrome 8 ⚠
• p.Arg934Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg934His Single submitter Cardiovascular phenotype ⚠
• p.Arg949Trp Single submitter Cardiovascular phenotype ⚠
• p.Asn299Ser Single submitter Cardiovascular phenotype ⚠
• p.Asn688Ser Single submitter Brugada syndrome 8 ⚠
• p.Asp491Asn Single submitter sick sinus syndrome 2, autosomal dominant ⚠
• p.Asp728Asn Single submitter Cardiovascular phenotype ⚠
• p.Cys679Tyr Single submitter tetralogy of fallot ⚠
• p.Glu1193Gln Single submitter Cardiovascular phenotype ⚠
• p.Glu153Gly Single submitter sick sinus syndrome 2, autosomal dominant ⚠
• p.Gly111Ser Single submitter Brugada syndrome 8 ⚠
• p.Gly1127Arg Single submitter Brugada syndrome 8 ⚠
• p.Gly1128Val Single submitter Cardiovascular phenotype ⚠
• p.Gly1136Ser Single submitter Brugada syndrome 8 ⚠
• p.Gly140Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly732= Single submitter Brugada syndrome 8
• p.His727= Single submitter Cardiovascular phenotype
• p.Ile1145Val Single submitter Cardiovascular phenotype ⚠
• p.Ile904Thr Single submitter Brugada syndrome 8 ⚠
• p.Leu1025Ile Single submitter Brugada syndrome 8 ⚠
• p.Leu516= Single submitter Brugada syndrome 8
• p.Leu929Pro Single submitter Cardiovascular phenotype ⚠
• p.Lys530Asn Single submitter Cardiovascular phenotype ⚠
• p.Met343Val Single submitter Brugada syndrome 8 ⚠
• p.Phe1168fs Single submitter Cardiovascular phenotype
• p.Phe910Leu Single submitter Cardiovascular phenotype ⚠
• p.Pro1004Ser Single submitter Cardiovascular phenotype ⚠
• p.Pro1027= Single submitter Cardiovascular phenotype
• p.Pro1039= Single submitter Cardiovascular phenotype
• p.Pro1163His Single submitter Cardiovascular phenotype ⚠
• p.Pro1192Ser Single submitter Cardiovascular phenotype ⚠
• p.Pro1194= Single submitter Cardiovascular phenotype
• p.Pro166Leu Single submitter Brugada syndrome 8 ⚠
• p.Pro168Leu Single submitter Cardiovascular phenotype ⚠
• p.Pro43Leu Single submitter Cardiovascular phenotype ⚠
• p.Pro80Ser Single submitter Cardiovascular phenotype ⚠
• p.Pro846Leu Single submitter Cardiovascular phenotype ⚠
• p.Pro884Ala Single submitter Cardiovascular phenotype ⚠
• p.Pro890Leu Single submitter Brugada syndrome 8 ⚠
• p.Pro955Leu Single submitter Cardiovascular phenotype ⚠
• p.Pro990Arg Single submitter Brugada syndrome 8 ⚠
• p.Ser115Gly Single submitter Cardiovascular phenotype ⚠
• p.Ser125= Single submitter Cardiovascular phenotype
• p.Ser452= Single submitter Cardiovascular phenotype
• p.Ser574= Single submitter Cardiovascular phenotype
• p.Ser685= Single submitter Cardiovascular phenotype
• p.Ser790= Single submitter Cardiovascular phenotype
• p.Ser872Arg Single submitter Cardiovascular phenotype ⚠
• p.Ser935Phe Single submitter Cardiovascular phenotype ⚠
• p.Ser935Tyr Single submitter Cardiovascular phenotype ⚠
• p.Thr605= Single submitter Cardiovascular phenotype
• p.Thr766Ala Single submitter Brugada syndrome 8 ⚠
• p.Thr851= Single submitter Brugada syndrome 8
• p.Thr993Met Single submitter Brugada syndrome 8 ⚠
• p.Val415Met Single submitter Brugada syndrome 8
• p.Val487Met Single submitter Cardiovascular phenotype ⚠
• p.Val639Met Single submitter Cardiovascular phenotype ⚠
• p.Val642Met Single submitter Cardiovascular phenotype ⚠
• p.Val733Ile Single submitter Brugada syndrome 8 ⚠
• p.Val759Ile Single submitter Cardiovascular phenotype ⚠
• p.Val899Ile Single submitter Brugada syndrome 8 ⚠

Benign 35

• c.1371+8C>T Multiple submitters Brugada syndrome 8
• c.1737+20G>A Multiple submitters Brugada syndrome 8
• c.1979-41A>G Multiple submitters
• c.-1076A>C Multiple submitters
• c.-34C>T Multiple submitters
• c.-585C>A Multiple submitters sick sinus syndrome 2, autosomal dominant
• c.*1140G>A Multiple submitters sick sinus syndrome 2, autosomal dominant
• c.*1482A>G Multiple submitters sick sinus syndrome 2, autosomal dominant
• c.*1490A>C Multiple submitters sick sinus syndrome 2, autosomal dominant
• c.*1989G>A Multiple submitters sick sinus syndrome 2, autosomal dominant
• c.*2393C>G Multiple submitters sick sinus syndrome 2, autosomal dominant
• c.*2445C>T Multiple submitters sick sinus syndrome 2, autosomal dominant
• c.*2581C>T Multiple submitters sick sinus syndrome 2, autosomal dominant
• c.*414C>A Multiple submitters sick sinus syndrome 2, autosomal dominant
• c.*708A>G Multiple submitters sick sinus syndrome 2, autosomal dominant
• p.Asp1096= Multiple submitters Cardiovascular phenotype
• p.Gly561= Multiple submitters Cardiovascular phenotype
• p.Phe613= Multiple submitters Cardiovascular phenotype
• p.Ser1011= Multiple submitters Cardiovascular phenotype
• p.Ser891= Multiple submitters Cardiovascular phenotype
• p.Thr993= Multiple submitters Cardiovascular phenotype
• c.1210-216G>T Single submitter
• c.1591-16dup Single submitter Brugada syndrome 8
• c.1978+252C>T Single submitter
• c.1978+261T>C Single submitter
• c.1979-150G>A Single submitter
• c.2143+14del Single submitter Brugada syndrome 8
• c.2143+9dup Single submitter Brugada syndrome 8
• c.*112AC[3] Single submitter
• c.*1197T>C Single submitter sick sinus syndrome 2, autosomal dominant
• c.*127A>G Single submitter sick sinus syndrome 2, autosomal dominant
• c.*1659A>G Single submitter sick sinus syndrome 2, autosomal dominant
• c.*2354A>G Single submitter sick sinus syndrome 2, autosomal dominant
• c.*634C>T Single submitter sick sinus syndrome 2, autosomal dominant
• c.*844G>A Single submitter sick sinus syndrome 2, autosomal dominant

Benign/Likely benign 32

• c.1591-19C>A Multiple submitters Brugada syndrome 8
• c.1591-38_1591-15del Multiple submitters Brugada syndrome 8
• c.1738-6C>T Multiple submitters Brugada syndrome 8
• c.1978+3G>T Multiple submitters Cardiovascular phenotype
• c.2143+5G>T Multiple submitters Cardiovascular phenotype
• c.785+13A>C Multiple submitters Brugada syndrome 8
• c.-189G>A Multiple submitters sick sinus syndrome 2, autosomal dominant
• p.Ala756= Multiple submitters Cardiovascular phenotype
• p.Ala867= Multiple submitters Cardiovascular phenotype
• p.Ala886Val Multiple submitters Cardiovascular phenotype
• p.Ala944Val Multiple submitters Cardiovascular phenotype
• p.Arg1196His Multiple submitters Cardiovascular phenotype
• p.Asp364Asn Multiple submitters Cardiovascular phenotype
• p.Asp749= Multiple submitters Cardiovascular phenotype
• p.Gly36Glu Multiple submitters Cardiovascular phenotype
• p.His512= Multiple submitters Cardiovascular phenotype
• p.His552= Multiple submitters Cardiovascular phenotype
• p.Ile318= Multiple submitters Cardiovascular phenotype
• p.Ile418= Multiple submitters Cardiovascular phenotype
• p.Ile551= Multiple submitters Cardiovascular phenotype
• p.Leu12= Multiple submitters Cardiovascular phenotype
• p.Leu520= Multiple submitters Cardiovascular phenotype
• p.Met1113Val Multiple submitters Cardiovascular phenotype
• p.Pro1004= Multiple submitters Brugada syndrome 8
• p.Pro1117Leu Multiple submitters Cardiovascular phenotype
• p.Pro883Arg Multiple submitters ventricular tachycardia
• p.Pro946= Multiple submitters Brugada syndrome 8
• p.Ser568Thr Multiple submitters Cardiovascular phenotype
• p.Ser878= Multiple submitters Cardiovascular phenotype
• p.Tyr467= Multiple submitters Brugada syndrome 8
• p.Tyr481= Multiple submitters Cardiovascular phenotype
• p.Tyr506= Multiple submitters Cardiovascular phenotype

Likely benign 700

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

• c.1210-103C>G Multiple submitters
• c.1371+16C>T Multiple submitters Brugada syndrome 8
• c.1371+17C>T Multiple submitters Brugada syndrome 8
• c.1371+18G>A Multiple submitters Brugada syndrome 8
• c.1372-13C>T Multiple submitters Brugada syndrome 8
• c.1591-20C>T Multiple submitters Brugada syndrome 8
• c.1737+15G>A Multiple submitters Brugada syndrome 8
• c.1737+16G>T Multiple submitters Brugada syndrome 8
• c.1978+46G>A Multiple submitters
• c.1978+8A>G Multiple submitters Brugada syndrome 8
• c.785+8_785+10dup Multiple submitters Brugada syndrome 8
• c.786-16_786-15del Multiple submitters Brugada syndrome 8
• c.786-4G>A Multiple submitters Cardiovascular phenotype
• p.Ala1045= Multiple submitters Cardiovascular phenotype
• p.Ala1057= Multiple submitters Brugada syndrome 8
• p.Ala1092= Multiple submitters Brugada syndrome 8
• p.Ala1098= Multiple submitters Cardiovascular phenotype
• p.Ala1170= Multiple submitters Brugada syndrome 8
• p.Ala133= Multiple submitters Cardiovascular phenotype
• p.Ala137= Multiple submitters Cardiovascular phenotype
• p.Ala157= Multiple submitters Cardiovascular phenotype
• p.Ala163= Multiple submitters Brugada syndrome 8
• p.Ala177= Multiple submitters Cardiovascular phenotype
• p.Ala196= Multiple submitters Brugada syndrome 8
• p.Ala37= Multiple submitters Cardiovascular phenotype
• p.Ala414= Multiple submitters Brugada syndrome 8
• p.Ala468= Multiple submitters Cardiovascular phenotype
• p.Ala503= Multiple submitters Cardiovascular phenotype
• p.Ala599= Multiple submitters Brugada syndrome 8
• p.Ala675= Multiple submitters Cardiovascular phenotype
• p.Ala707= Multiple submitters Brugada syndrome 8
• p.Ala75= Multiple submitters Brugada syndrome 8
• p.Ala761= Multiple submitters Brugada syndrome 8
• p.Ala785= Multiple submitters Cardiovascular phenotype
• p.Ala787= Multiple submitters Cardiovascular phenotype
• p.Ala794= Multiple submitters Cardiovascular phenotype
• p.Ala803= Multiple submitters Brugada syndrome 8
• p.Ala819= Multiple submitters Brugada syndrome 8
• p.Ala836= Multiple submitters Brugada syndrome 8
• p.Ala84= Multiple submitters Brugada syndrome 8
• p.Ala900= Multiple submitters Cardiovascular phenotype
• p.Ala901= Multiple submitters Cardiovascular phenotype
• p.Ala905= Multiple submitters Brugada syndrome 8
• p.Ala944= Multiple submitters Cardiovascular phenotype
• p.Arg1078= Multiple submitters Brugada syndrome 8
• p.Arg11= Multiple submitters Cardiovascular phenotype
• p.Arg396= Multiple submitters Cardiovascular phenotype
• p.Arg558= Multiple submitters Cardiovascular phenotype
• p.Arg624= Multiple submitters Cardiovascular phenotype
• p.Arg713= Multiple submitters Cardiovascular phenotype
• p.Arg758= Multiple submitters Cardiovascular phenotype
• p.Arg82= Multiple submitters Brugada syndrome 8
• p.Arg999= Multiple submitters Brugada syndrome 8
• p.Asn227= Multiple submitters Brugada syndrome 8
• p.Asn598= Multiple submitters Brugada syndrome 8
• p.Asn688= Multiple submitters Brugada syndrome 8
• p.Asp185= Multiple submitters Brugada syndrome 8
• p.Asp27= Multiple submitters Cardiovascular phenotype
• p.Asp432= Multiple submitters Cardiovascular phenotype
• p.Asp447= Multiple submitters Cardiovascular phenotype
• p.Asp491= Multiple submitters Brugada syndrome 8
• p.Asp521= Multiple submitters Cardiovascular phenotype
• p.Asp546= Multiple submitters Cardiovascular phenotype
• p.Asp565= Multiple submitters Brugada syndrome 8
• p.Asp600= Multiple submitters Cardiovascular phenotype
• p.Asp654= Multiple submitters Brugada syndrome 8
• p.Asp676= Multiple submitters Brugada syndrome 8
• p.Asp76= Multiple submitters Cardiovascular phenotype
• p.Cys179= Multiple submitters Cardiovascular phenotype
• p.Cys755= Multiple submitters Cardiovascular phenotype
• p.Cys93= Multiple submitters Cardiovascular phenotype
• p.Gln160= Multiple submitters Brugada syndrome 8
• p.Gln737Arg Multiple submitters Cardiovascular phenotype
• p.Gln783= Multiple submitters Brugada syndrome 8
• p.Gln974= Multiple submitters Brugada syndrome 8
• p.Glu127= Multiple submitters Brugada syndrome 8
• p.Glu151= Multiple submitters Cardiovascular phenotype
• p.Glu203= Multiple submitters Cardiovascular phenotype
• p.Glu241= Multiple submitters Cardiovascular phenotype
• p.Glu34= Multiple submitters Cardiovascular phenotype
• p.Glu704= Multiple submitters Brugada syndrome 8
• p.Glu738= Multiple submitters Brugada syndrome 8
• p.Gly1029= Multiple submitters Cardiovascular phenotype
• p.Gly111= Multiple submitters Brugada syndrome 8
• p.Gly1127= Multiple submitters Brugada syndrome 8
• p.Gly1133= Multiple submitters Cardiovascular phenotype
• p.Gly114= Multiple submitters Brugada syndrome 8
• p.Gly116= Multiple submitters Cardiovascular phenotype
• p.Gly135= Multiple submitters Cardiovascular phenotype
• p.Gly140= Multiple submitters Cardiovascular phenotype
• p.Gly192= Multiple submitters Brugada syndrome 8
• p.Gly193= Multiple submitters Cardiovascular phenotype
• p.Gly20= Multiple submitters Brugada syndrome 8
• p.Gly225= Multiple submitters Cardiovascular phenotype
• p.Gly251= Multiple submitters Cardiovascular phenotype
• p.Gly462= Multiple submitters Cardiovascular phenotype
• p.Gly715= Multiple submitters Brugada syndrome 8
• p.Gly811= Multiple submitters Brugada syndrome 8
• p.Gly83= Multiple submitters Brugada syndrome 8
• p.Gly85= Multiple submitters Brugada syndrome 8
• p.Gly906= Multiple submitters Cardiovascular phenotype
• p.Gly932= Multiple submitters Cardiovascular phenotype
• p.Gly973= Multiple submitters Cardiovascular phenotype
• p.Gly980= Multiple submitters Cardiovascular phenotype
• p.Gly989= Multiple submitters Cardiovascular phenotype
• p.His1030= Multiple submitters Brugada syndrome 8
• p.His1049= Multiple submitters Cardiovascular phenotype
• p.His1149= Multiple submitters Brugada syndrome 8
• p.His637= Multiple submitters Brugada syndrome 8
• p.His757= Multiple submitters Cardiovascular phenotype
• p.His911= Multiple submitters Cardiovascular phenotype
• p.Ile200= Multiple submitters Cardiovascular phenotype
• p.Ile278= Multiple submitters Cardiovascular phenotype
• p.Ile308= Multiple submitters Brugada syndrome 8
• p.Ile422= Multiple submitters Cardiovascular phenotype
• p.Ile479= Multiple submitters Cardiovascular phenotype
• p.Ile500= Multiple submitters Cardiovascular phenotype
• p.Ile622= Multiple submitters Cardiovascular phenotype
• p.Leu1025= Multiple submitters Cardiovascular phenotype
• p.Leu1118= Multiple submitters Brugada syndrome 8
• p.Leu1135= Multiple submitters Brugada syndrome 8
• p.Leu1203= Multiple submitters Brugada syndrome 8
• p.Leu15= Multiple submitters Cardiovascular phenotype
• p.Leu222= Multiple submitters Cardiovascular phenotype
• p.Leu231= Multiple submitters Cardiovascular phenotype
• p.Leu374= Multiple submitters Brugada syndrome 8
• p.Leu435= Multiple submitters Cardiovascular phenotype
• p.Leu494= Multiple submitters Cardiovascular phenotype
• p.Leu497= Multiple submitters Cardiovascular phenotype
• p.Leu53= Multiple submitters Brugada syndrome 8
• p.Leu577= Multiple submitters Cardiovascular phenotype
• p.Leu643= Multiple submitters Cardiovascular phenotype
• p.Leu684= Multiple submitters Cardiovascular phenotype
• p.Leu72= Multiple submitters Brugada syndrome 8
• p.Leu782= Multiple submitters Cardiovascular phenotype
• p.Leu795= Multiple submitters Cardiovascular phenotype
• p.Leu801= Multiple submitters Cardiovascular phenotype
• p.Leu817= Multiple submitters Cardiovascular phenotype
• p.Leu832= Multiple submitters Cardiovascular phenotype
• p.Leu874= Multiple submitters Cardiovascular phenotype
• p.Leu875= Multiple submitters Cardiovascular phenotype
• p.Lys1155= Multiple submitters Cardiovascular phenotype
• p.Lys248= Multiple submitters Brugada syndrome 8
• p.Lys339= Multiple submitters Cardiovascular phenotype
• p.Lys716= Multiple submitters Cardiovascular phenotype
• p.Lys86= Multiple submitters Cardiovascular phenotype
• p.Phe213= Multiple submitters Cardiovascular phenotype
• p.Phe252= Multiple submitters Brugada syndrome 8
• p.Phe564= Multiple submitters Cardiovascular phenotype
• p.Phe603= Multiple submitters Brugada syndrome 8
• p.Phe689= Multiple submitters Cardiovascular phenotype
• p.Phe703= Multiple submitters Cardiovascular phenotype
• p.Phe865= Multiple submitters Brugada syndrome 8
• p.Pro1003= Multiple submitters Cardiovascular phenotype
• p.Pro1042= Multiple submitters Cardiovascular phenotype
• p.Pro1055= Multiple submitters Brugada syndrome 8
• p.Pro1063= Multiple submitters Cardiovascular phenotype
• p.Pro1063Thr Multiple submitters Cardiovascular phenotype
• p.Pro1073= Multiple submitters Cardiovascular phenotype
• p.Pro1076= Multiple submitters Cardiovascular phenotype
• p.Pro1094= Multiple submitters Brugada syndrome 8
• p.Pro1106= Multiple submitters Brugada syndrome 8
• p.Pro1117= Multiple submitters Brugada syndrome 8
• p.Pro1137= Multiple submitters Cardiovascular phenotype
• p.Pro1141= Multiple submitters Brugada syndrome 8
• p.Pro1200= Multiple submitters Cardiovascular phenotype
• p.Pro145= Multiple submitters Cardiovascular phenotype
• p.Pro152= Multiple submitters Brugada syndrome 8
• p.Pro161= Multiple submitters Cardiovascular phenotype
• p.Pro167= Multiple submitters Brugada syndrome 8
• p.Pro172= Multiple submitters Brugada syndrome 8
• p.Pro182= Multiple submitters Brugada syndrome 8
• p.Pro202= Multiple submitters Brugada syndrome 8
• p.Pro351= Multiple submitters Cardiovascular phenotype
• p.Pro446= Multiple submitters Cardiovascular phenotype
• p.Pro486= Multiple submitters Cardiovascular phenotype
• p.Pro54= Multiple submitters Brugada syndrome 8
• p.Pro544= Multiple submitters Cardiovascular phenotype
• p.Pro56= Multiple submitters Brugada syndrome 8
• p.Pro576= Multiple submitters Cardiovascular phenotype
• p.Pro58= Multiple submitters Cardiovascular phenotype
• p.Pro6= Multiple submitters Cardiovascular phenotype
• p.Pro618= Multiple submitters Brugada syndrome 8
• p.Pro776= Multiple submitters Cardiovascular phenotype
• p.Pro810= Multiple submitters Brugada syndrome 8
• p.Pro842= Multiple submitters Cardiovascular phenotype
• p.Pro846= Multiple submitters Brugada syndrome 8
• p.Pro852= Multiple submitters Brugada syndrome 8
• p.Pro873= Multiple submitters Cardiovascular phenotype
• p.Pro884= Multiple submitters Cardiovascular phenotype
• p.Pro890Ser Multiple submitters Brugada syndrome 8
• p.Pro928= Multiple submitters Cardiovascular phenotype
• p.Pro936= Multiple submitters Brugada syndrome 8
• p.Pro943= Multiple submitters Brugada syndrome 8
• p.Pro955= Multiple submitters Cardiovascular phenotype
• p.Pro963= Multiple submitters Cardiovascular phenotype
• p.Pro968= Multiple submitters Cardiovascular phenotype
• p.Pro972= Multiple submitters Cardiovascular phenotype
• p.Pro979= Multiple submitters Cardiovascular phenotype
• p.Ser1026= Multiple submitters Cardiovascular phenotype
• p.Ser1058= Multiple submitters Cardiovascular phenotype
• p.Ser1087= Multiple submitters Brugada syndrome 8
• p.Ser1105= Multiple submitters Cardiovascular phenotype
• p.Ser1126= Multiple submitters Brugada syndrome 8
• p.Ser1132= Multiple submitters Cardiovascular phenotype
• p.Ser14= Multiple submitters Cardiovascular phenotype
• p.Ser164= Multiple submitters Cardiovascular phenotype
• p.Ser176= Multiple submitters Brugada syndrome 8
• p.Ser183= Multiple submitters Brugada syndrome 8
• p.Ser236= Multiple submitters Brugada syndrome 8
• p.Ser340= Multiple submitters Cardiovascular phenotype
• p.Ser348= Multiple submitters Cardiovascular phenotype
• p.Ser413= Multiple submitters Cardiovascular phenotype
• p.Ser490= Multiple submitters Brugada syndrome 8
• p.Ser55= Multiple submitters Cardiovascular phenotype
• p.Ser57= Multiple submitters Cardiovascular phenotype
• p.Ser641= Multiple submitters Cardiovascular phenotype
• p.Ser672= Multiple submitters Brugada syndrome 8
• p.Ser683= Multiple submitters Cardiovascular phenotype
• p.Ser731= Multiple submitters Cardiovascular phenotype
• p.Ser839= Multiple submitters Cardiovascular phenotype
• p.Ser841Leu Multiple submitters Cardiovascular phenotype
• p.Ser87= Multiple submitters Cardiovascular phenotype
• p.Ser879= Multiple submitters Cardiovascular phenotype
• p.Ser891Leu Multiple submitters Cardiovascular phenotype
• p.Ser921= Multiple submitters Brugada syndrome 8
• p.Ser967= Multiple submitters Brugada syndrome 8
• p.Ser983= Multiple submitters Brugada syndrome 8
• p.Thr1020= Multiple submitters Cardiovascular phenotype
• p.Thr1075= Multiple submitters Cardiovascular phenotype
• p.Thr113= Multiple submitters Cardiovascular phenotype
• p.Thr113Met Multiple submitters
• p.Thr1156= Multiple submitters Brugada syndrome 8
• p.Thr380= Multiple submitters Brugada syndrome 8
• p.Thr504= Multiple submitters Brugada syndrome 8
• p.Thr705= Multiple submitters Cardiovascular phenotype
• p.Thr770= Multiple submitters Cardiovascular phenotype
• p.Thr822= Multiple submitters Cardiovascular phenotype
• p.Thr822Met Multiple submitters Cardiovascular phenotype
• p.Thr89= Multiple submitters Cardiovascular phenotype
• p.Thr894= Multiple submitters Brugada syndrome 8
• p.Tyr397= Multiple submitters Brugada syndrome 8
• p.Tyr409= Multiple submitters Brugada syndrome 8
• p.Tyr531= Multiple submitters Cardiovascular phenotype
• p.Tyr555= Multiple submitters Brugada syndrome 8
• p.Val1007= Multiple submitters Cardiovascular phenotype
• p.Val1017= Multiple submitters Brugada syndrome 8
• p.Val1065= Multiple submitters Cardiovascular phenotype
• p.Val274= Multiple submitters Cardiovascular phenotype
• p.Val344= Multiple submitters Brugada syndrome 8
• p.Val604= Multiple submitters Cardiovascular phenotype
• p.Val642= Multiple submitters Cardiovascular phenotype
• p.Val706= Multiple submitters Brugada syndrome 8
• c.1209+123A>G Single submitter
• c.1209+15C>A Single submitter Brugada syndrome 8
• c.1209+17A>G Single submitter Brugada syndrome 8
• c.1209+19C>A Single submitter Brugada syndrome 8
• c.1209+20C>T Single submitter Brugada syndrome 8
• c.1209+211A>G Single submitter
• c.1209+7G>C Single submitter Brugada syndrome 8
• c.1210-10C>T Single submitter Brugada syndrome 8
• c.1210-11T>C Single submitter Brugada syndrome 8
• c.1210-12C>T Single submitter Brugada syndrome 8
• c.1210-18CTC[2] Single submitter Brugada syndrome 8
• c.1210-8G>T Single submitter Brugada syndrome 8
• c.1371+12C>T Single submitter Brugada syndrome 8
• c.1371+19G>A Single submitter Brugada syndrome 8
• c.1371+7G>A Single submitter Brugada syndrome 8
• c.1371+9G>T Single submitter Brugada syndrome 8
• c.1372-12G>A Single submitter Brugada syndrome 8
• c.1372-15T>A Single submitter Brugada syndrome 8
• c.1372-18C>A Single submitter Brugada syndrome 8
• c.1372-6C>T Single submitter Brugada syndrome 8
• c.1372-8G>A Single submitter Brugada syndrome 8
• c.1372-8G>C Single submitter Brugada syndrome 8
• c.1590+10C>T Single submitter Brugada syndrome 8
• c.1590+11C>T Single submitter Brugada syndrome 8
• c.1590+14G>A Single submitter Brugada syndrome 8
• c.1590+16G>A Single submitter Brugada syndrome 8
• c.1590+7C>G Single submitter Brugada syndrome 8
• c.1590+9A>G Single submitter Brugada syndrome 8
• c.1591-13C>T Single submitter Brugada syndrome 8
• c.1591-16C>T Single submitter Brugada syndrome 8
• c.1591-17C>A Single submitter Brugada syndrome 8
• c.1591-18C>G Single submitter Brugada syndrome 8
• c.1591-237C>T Single submitter
• c.1591-7G>A Single submitter Brugada syndrome 8
• c.1591-9C>T Single submitter Brugada syndrome 8
• c.1737+10G>A Single submitter Brugada syndrome 8
• c.1737+14C>T Single submitter Brugada syndrome 8
• c.1737+19C>T Single submitter Brugada syndrome 8
• c.1737+8G>A Single submitter Brugada syndrome 8
• c.1738-10T>C Single submitter Brugada syndrome 8
• c.1738-11_1738-10del Single submitter Brugada syndrome 8
• c.1738-13C>T Single submitter Brugada syndrome 8
• c.1738-17T>C Single submitter Brugada syndrome 8
• c.1738-19A>C Single submitter Brugada syndrome 8
• c.1738-5G>C Single submitter Brugada syndrome 8
• c.1738-5G>T Single submitter Brugada syndrome 8
• c.1738-8T>C Single submitter Brugada syndrome 8

Uncertain significance 1226

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

• c.1209+2_1209+3insGTGA Multiple submitters Cardiovascular phenotype
• c.1209+4A>G Multiple submitters sick sinus syndrome 2, autosomal dominant
• c.2143+5G>A Multiple submitters Brugada syndrome 8
• c.2143+5G>C Multiple submitters Cardiovascular phenotype
• c.-132G>C Multiple submitters sick sinus syndrome 2, autosomal dominant
• c.-529G>A Multiple submitters sick sinus syndrome 2, autosomal dominant
• c.*1172A>G Multiple submitters sick sinus syndrome 2, autosomal dominant
• c.*1598A>G Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 18
• p.Ala1010Ser Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 18 ⚠
• p.Ala1014Gly Multiple submitters Brugada syndrome 8 ⚠
• p.Ala1041Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1045Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1057_Pro1063dup Multiple submitters Brugada syndrome 8
• p.Ala1088Pro Multiple submitters Brugada syndrome 8 ⚠
• p.Ala1088Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1088Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1098Val Multiple submitters sick sinus syndrome 2, autosomal dominant ⚠
• p.Ala1104Thr Multiple submitters Brugada syndrome 8 ⚠
• p.Ala1190Thr Multiple submitters Brugada syndrome 8 ⚠
• p.Ala137Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala149Glu Multiple submitters Brugada syndrome 8 ⚠
• p.Ala149Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala162_Pro167dup Multiple submitters Brugada syndrome 8
• p.Ala162Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala163Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala187Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala194Thr Multiple submitters Brugada syndrome 8 ⚠
• p.Ala194Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala204Val Multiple submitters Brugada syndrome 8 ⚠
• p.Ala21Val Multiple submitters Brugada syndrome 8 ⚠
• p.Ala37Asp Multiple submitters Brugada syndrome 8 ⚠
• p.Ala468Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala468Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala507Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala513Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala591Ser Multiple submitters Cardiovascular phenotype
• p.Ala599Val Multiple submitters sick sinus syndrome 2, autosomal dominant ⚠
• p.Ala62Pro Multiple submitters Brugada syndrome 8 ⚠
• p.Ala71Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala756Val Multiple submitters Brugada syndrome 8 ⚠
• p.Ala786Thr Multiple submitters Brugada syndrome 8 ⚠
• p.Ala792Ser Multiple submitters Brugada syndrome 8 ⚠
• p.Ala803Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala804Thr Multiple submitters Brugada syndrome 8 ⚠
• p.Ala840Thr Multiple submitters Brugada syndrome 8 ⚠
• p.Ala843Thr Multiple submitters Brugada syndrome 8 ⚠
• p.Ala863Ser Multiple submitters Brugada syndrome 8 ⚠
• p.Ala863Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala869Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala905Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala933Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala944Ser Multiple submitters Brugada syndrome 8 ⚠
• p.Ala948fs Multiple submitters Brugada syndrome 8
• p.Arg1022Gln Multiple submitters Brugada syndrome 8 ⚠
• p.Arg1022Ter Multiple submitters HCN4-related disorder
• p.Arg1044Gln Multiple submitters Brugada syndrome 8 ⚠
• p.Arg1068Cys Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 18 ⚠
• p.Arg1068His Multiple submitters Brugada syndrome 8 ⚠
• p.Arg1068Ser Multiple submitters Brugada syndrome 8 ⚠
• p.Arg1069Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1078Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1078His Multiple submitters Brugada syndrome 8 ⚠
• p.Arg1121Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1140fs Multiple submitters Cardiovascular phenotype
• p.Arg1154Trp Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 18 ⚠
• p.Arg1171Ile Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1171Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1196Cys Multiple submitters Brugada syndrome 8 ⚠
• p.Arg1196Ser Multiple submitters Cardiovascular phenotype
• p.Arg129Trp Multiple submitters Cardiovascular phenotype
• p.Arg207Leu Multiple submitters Brugada syndrome 8 ⚠
• p.Arg242Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg242His Multiple submitters Brugada syndrome 8 ⚠
• p.Arg315Cys Multiple submitters sick sinus syndrome 2, autosomal dominant ⚠
• p.Arg315His Multiple submitters Cardiovascular phenotype ⚠
• p.Arg332Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg332Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg362His Multiple submitters Cardiovascular phenotype ⚠
• p.Arg387Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg387Gly Multiple submitters Brugada syndrome 8 ⚠
• p.Arg390Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg393His Multiple submitters Brugada syndrome 8 ⚠
• p.Arg40His Multiple submitters Brugada syndrome 8 ⚠
• p.Arg417Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg417His Multiple submitters Brugada syndrome 8 ⚠
• p.Arg45Leu Multiple submitters Brugada syndrome 8 ⚠
• p.Arg483Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg49Gly Multiple submitters Brugada syndrome 8 ⚠
• p.Arg51Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg51Trp Multiple submitters Brugada syndrome 8
• p.Arg525His Multiple submitters Cardiovascular phenotype ⚠
• p.Arg548Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg550Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg578Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg578Trp Multiple submitters Brugada syndrome 8 ⚠
• p.Arg587Gln Multiple submitters Brugada syndrome 8 ⚠
• p.Arg587Trp Multiple submitters Brugada syndrome 8 ⚠
• p.Arg612Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg612His Multiple submitters Cardiovascular phenotype ⚠
• p.Arg624Gln Multiple submitters Brugada syndrome 8 ⚠
• p.Arg624Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg666Gln Multiple submitters Brugada syndrome 8 ⚠
• p.Arg666Trp Multiple submitters Brugada syndrome 8 ⚠
• p.Arg668Gln Multiple submitters Brugada syndrome 8 ⚠
• p.Arg68Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Arg710Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg710Leu Multiple submitters Brugada syndrome 8 ⚠
• p.Arg713Cys Multiple submitters Brugada syndrome 8 ⚠
• p.Arg713His Multiple submitters Brugada syndrome 8 ⚠
• p.Arg750Trp Multiple submitters Brugada syndrome 8 ⚠
• p.Arg800Cys Multiple submitters Brugada syndrome 8 ⚠
• p.Arg807Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg828Gln Multiple submitters Brugada syndrome 8 ⚠
• p.Arg828Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg949Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg949Pro Multiple submitters Brugada syndrome 8 ⚠
• p.Arg999Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg999Trp Multiple submitters Brugada syndrome 8 ⚠
• p.Asn1202Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Asn583Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Asn598Ser Multiple submitters Brugada syndrome 8 ⚠
• p.Asn602Ser Multiple submitters Brugada syndrome 8 ⚠
• p.Asn690Ser Multiple submitters Brugada syndrome 8 ⚠
• p.Asn90Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Asp136Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp198Glu Multiple submitters Brugada syndrome 8 ⚠
• p.Asp27His Multiple submitters Cardiovascular phenotype ⚠
• p.Asp2Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Asp31Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp364His Multiple submitters sick sinus syndrome 2, autosomal dominant ⚠
• p.Asp42His Multiple submitters Brugada syndrome 8 ⚠
• p.Asp444Val Multiple submitters Cardiovascular phenotype ⚠
• p.Asp448Asn Multiple submitters Brugada syndrome 8 ⚠
• p.Asp546Asn Multiple submitters Brugada syndrome 8 ⚠
• p.Asp553Asn Multiple submitters sick sinus syndrome 2, autosomal dominant ⚠
• p.Asp565Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp565His Multiple submitters Brugada syndrome 8 ⚠
• p.Asp654Asn Multiple submitters Brugada syndrome 8 ⚠
• p.Asp676Asn Multiple submitters Brugada syndrome 8
• p.Asp676Glu Multiple submitters Cardiovascular phenotype
• p.Asp922Asn Multiple submitters Brugada syndrome 8 ⚠
• p.Asp92Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Cys505Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.Gln1064_Pro1072del Multiple submitters Cardiovascular phenotype
• p.Gln1081Arg Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 18 ⚠
• p.Gln1099His Multiple submitters Brugada syndrome 8 ⚠
• p.Gln160Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gln18Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Gln199Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Gln215Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gln217His Multiple submitters Brugada syndrome 8 ⚠
• p.Gln526Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gln977Lys Multiple submitters Brugada syndrome 8 ⚠
• p.Glu127Lys Multiple submitters Cardiovascular phenotype
• p.Glu151Gly Multiple submitters Brugada syndrome 8 ⚠
• p.Glu180Ala Multiple submitters Brugada syndrome 8 ⚠
• p.Glu28Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Glu28Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Glu28Lys Multiple submitters HCN4-related disorder ⚠
• p.Glu30Gln Multiple submitters Brugada syndrome 8 ⚠
• p.Glu30Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu325Asp Multiple submitters Brugada syndrome 8 ⚠
• p.Glu566Lys Multiple submitters Brugada syndrome 8 ⚠
• p.Glu575Asp Multiple submitters Brugada syndrome ⚠
• p.Glu575Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu614Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu66Lys Multiple submitters Brugada syndrome 8 ⚠
• p.Glu738Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu995Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1012Arg Multiple submitters Brugada syndrome 8 ⚠
• p.Gly1012Trp Multiple submitters Brugada syndrome 8 ⚠
• p.Gly1013Val Multiple submitters Brugada syndrome 8 ⚠
• p.Gly1024del Multiple submitters Brugada syndrome 8
• p.Gly1024Val Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 18 ⚠
• p.Gly1033Asp Multiple submitters Brugada syndrome 8 ⚠
• p.Gly104Ser Multiple submitters Brugada syndrome 8 ⚠
• p.Gly1050Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1070Asp Multiple submitters sick sinus syndrome 2, autosomal dominant ⚠
• p.Gly1077Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Gly107Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Gly108Arg Multiple submitters Brugada syndrome 8 ⚠
• p.Gly1097Ala Multiple submitters Brugada syndrome 8 ⚠
• p.Gly1097Arg Multiple submitters Brugada syndrome 8 ⚠
• p.Gly1124Asp Multiple submitters Brugada syndrome 8 ⚠
• p.Gly1128Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Gly112Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Gly112Ser Multiple submitters Brugada syndrome 8 ⚠
• p.Gly1130Arg Multiple submitters Brugada syndrome 8 ⚠
• p.Gly1133Arg Multiple submitters Brugada syndrome 8 ⚠
• p.Gly1147Ser Multiple submitters Brugada syndrome 8 ⚠
• p.Gly114Arg Multiple submitters Brugada syndrome 8 ⚠
• p.Gly1176Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1176Arg Multiple submitters Brugada syndrome 8 ⚠
• p.Gly120Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly135Ser Multiple submitters Brugada syndrome 8 ⚠
• p.Gly156Ser Multiple submitters Brugada syndrome 8 ⚠
• p.Gly193Cys Multiple submitters Brugada syndrome 8 ⚠
• p.Gly225Arg Multiple submitters Brugada syndrome 8 ⚠
• p.Gly36Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly433Ser Multiple submitters Brugada syndrome 8 ⚠
• p.Gly462Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gly571= Multiple submitters Brugada syndrome 8
• p.Gly571Cys Multiple submitters Brugada syndrome 8 ⚠
• p.Gly64Asp Multiple submitters Brugada syndrome 8 ⚠
• p.Gly732Ser Multiple submitters Brugada syndrome 8 ⚠
• p.Gly813Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly815Ser Multiple submitters Brugada syndrome 8 ⚠
• p.Gly818Asp Multiple submitters Brugada syndrome 8 ⚠
• p.Gly818Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Gly820Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly85Val Multiple submitters Cardiovascular phenotype ⚠
• p.Gly885fs Multiple submitters Cardiovascular phenotype
• p.Gly888Ser Multiple submitters Brugada syndrome 8 ⚠
• p.Gly906Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Gly91Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly91Ser Multiple submitters Brugada syndrome 8 ⚠
• p.Gly932Asp Multiple submitters Brugada syndrome 8 ⚠
• p.Gly947Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly947Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly951Arg Multiple submitters Brugada syndrome 8 ⚠
• p.Gly951Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly973Arg Multiple submitters sick sinus syndrome 2, autosomal dominant ⚠
• p.Gly973Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly980Ala Multiple submitters Brugada syndrome 8 ⚠
• p.His1149Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.His123Arg Multiple submitters Cardiovascular phenotype ⚠
• p.His256Arg Multiple submitters Cardiovascular phenotype ⚠
• p.His256Tyr Multiple submitters Brugada syndrome 8 ⚠
• p.His748Arg Multiple submitters Cardiovascular phenotype ⚠
• p.His754Tyr Multiple submitters Brugada syndrome 8 ⚠
• p.His757Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.His858Tyr Multiple submitters Brugada syndrome 8 ⚠
• p.Ile132Leu Multiple submitters HCN4-related disorder ⚠
• p.Ile363Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ile376Val Multiple submitters Brugada syndrome 8 ⚠
• p.Ile48Met Multiple submitters Brugada syndrome 8 ⚠
• p.Ile773Val Multiple submitters Brugada syndrome 8 ⚠
• p.Ile793Val Multiple submitters Cardiovascular phenotype ⚠
• p.Leu1006Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Leu1053Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Leu1074Phe Multiple submitters Cardiovascular phenotype ⚠
• p.Leu1118His Multiple submitters Cardiovascular phenotype ⚠
• p.Leu1161Trp Multiple submitters Brugada syndrome 8 ⚠
• p.Leu1167_Phe1168del Multiple submitters Brugada syndrome 8
• p.Leu1180fs Multiple submitters sick sinus syndrome 2, autosomal dominant
• p.Leu1199Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Leu1203Pro Multiple submitters Brugada syndrome 8 ⚠
• p.Leu494Phe Multiple submitters Brugada syndrome 8 ⚠
• p.Leu643Arg Multiple submitters Brugada syndrome 8 ⚠
• p.Leu663Met Multiple submitters Brugada syndrome 8 ⚠
• p.Leu777Arg Multiple submitters Brugada syndrome 8 ⚠
• p.Leu795Phe Multiple submitters sick sinus syndrome 2, autosomal dominant ⚠
• p.Leu832Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Leu925Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Leu959Val Multiple submitters Cardiovascular phenotype ⚠
• p.Lys1084Met Multiple submitters Brugada syndrome 8
• p.Lys10Gln Multiple submitters Cardiovascular phenotype
• p.Lys189Arg Multiple submitters Brugada syndrome 8 ⚠
• p.Lys248Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Lys334Glu Multiple submitters Brugada syndrome 8 ⚠
• p.Lys3Thr Multiple submitters Brugada syndrome 8
• p.Lys463Glu Multiple submitters Brugada syndrome 8 ⚠
• p.Lys86Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Met1113Thr Multiple submitters Brugada syndrome 8 ⚠
• p.Met214Leu Multiple submitters Brugada syndrome 8 ⚠
• p.Met233Ile Multiple submitters Brugada syndrome 8 ⚠
• p.Met233Leu Multiple submitters Brugada syndrome 8 ⚠
• p.Met26Val Multiple submitters Brugada syndrome 8 ⚠
• p.Met335Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Met335Ile Multiple submitters Brugada syndrome 8 ⚠
• p.Met473Ile Multiple submitters Brugada syndrome 8 ⚠
• p.Met473Thr Multiple submitters Brugada syndrome 8 ⚠
• p.Met489Val Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 18 ⚠
• p.Met499Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Met538Val Multiple submitters Cardiovascular phenotype ⚠
• p.Met607Val Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 18 ⚠
• p.Met632Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Met632Ile Multiple submitters Cardiovascular phenotype ⚠
• p.Met698Val Multiple submitters Cardiovascular phenotype ⚠
• p.Met8Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Phe1168Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Phe1168Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Phe261Leu Multiple submitters Brugada syndrome 8 ⚠
• p.Phe305Leu Multiple submitters Brugada syndrome 8 ⚠
• p.Phe342Leu Multiple submitters sick sinus syndrome 2, autosomal dominant ⚠
• p.Phe96_Ser99del Multiple submitters Brugada syndrome 8
• p.Pro1003Leu Multiple submitters Cardiovascular phenotype ⚠
• p.Pro1004Leu Multiple submitters Cardiovascular phenotype ⚠
• p.Pro1021Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Pro1028Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Pro1028Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Pro1034Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Pro1034Ser Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 18 ⚠
• p.Pro1034Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Pro1039Leu Multiple submitters Brugada syndrome 8 ⚠
• p.Pro1042Leu Multiple submitters Cardiovascular phenotype ⚠
• p.Pro1056Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Pro1060Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Pro1060His Multiple submitters Cardiovascular phenotype ⚠
• p.Pro1061Gln Multiple submitters Brugada syndrome 8 ⚠