SCN5A — 4212 ClinVar variants

All ClinVar germline SCN5A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2063 flagged for review →

241 Pathogenic · 85 Pathogenic/Likely pathogenic · 154 Likely pathogenic · 355 Conflicting · 68 Benign · 107 Benign/Likely benign · 1131 Likely benign · 2071 Uncertain significance

Full SCN5A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 2063

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

SCN5A p.Arg282His Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
SCN5A p.Asn1324Ser Pathogenic/Likely pathogenic Multiple submitters
cardiac rhythm disease
SCN5A p.Ile1484Val Pathogenic/Likely pathogenic Multiple submitters
long QT syndrome 3
SCN5A p.Ser1966Phe Likely pathogenic Single submitter
Brugada syndrome 1
SCN5A p.Gly514Cys Pathogenic No assertion criteria
CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE

Predictors agree, ClinVar conflicts 172

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 172

SCN5A p.Ala1099Val Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Ala1112Val Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Ala1179Val Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Ala1185Thr Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Ala1220Val Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Ala1325Asp Conflicting Single submitter
SCN5A p.Ala1427Ser Conflicting Single submitter
dilated cardiomyopathy 1E
SCN5A p.Ala1679Thr Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Ala1931Val Conflicting Single submitter
dilated cardiomyopathy
SCN5A p.Ala204Val Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Ala226Val Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Ala286Val Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Ala447Gly Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Ala541Thr Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Ala572Ser Conflicting Single submitter
long QT syndrome
SCN5A p.Ala572Val Conflicting Single submitter
cardiomyopathy
SCN5A p.Ala665Ser Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Ala665Thr Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Ala672Thr Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Arg1023His Conflicting Single submitter
cardiomyopathy
SCN5A p.Arg104Gln Conflicting Single submitter
SCN5A-related disorder
SCN5A p.Arg1173Trp Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Arg1231Trp Conflicting Single submitter
SCN5A-related disorder
SCN5A p.Arg1302Gln Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Arg1305Cys Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Arg1305His Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Arg1305Leu Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Arg1315Leu Conflicting Single submitter
long QT syndrome 3
SCN5A p.Arg1511Trp Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Arg1582Cys Conflicting Single submitter
SCN5A-related disorder
SCN5A p.Arg1625Cys Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Arg1625His Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Arg1631His Conflicting Single submitter
Brugada syndrome
SCN5A p.Arg1631Leu Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Arg190Gly Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Arg1912Cys Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Arg1943Gln Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Arg1957Gln Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Arg1990Gln Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Arg1990Trp Conflicting Single submitter
sick sinus syndrome 1
SCN5A p.Arg2009Gly Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Arg219Cys Conflicting Single submitter
Brugada syndrome
SCN5A p.Arg219His Conflicting Single submitter
SCN5A-related disorder
SCN5A p.Arg225Gln Conflicting Single submitter
Brugada syndrome
SCN5A p.Arg282Cys Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Arg340Gln Conflicting Single submitter
Brugada syndrome 1
SCN5A p.Arg43Gln Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Arg458Cys Conflicting Single submitter
Brugada syndrome 1
SCN5A p.Arg458His Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Arg481Trp Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Arg513His Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Arg526His Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Arg680His Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Arg693His Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Arg808Cys Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Arg811Cys Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Arg811His Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Arg893Cys Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Arg986Trp Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Asn1268Ser Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Asn134Ser Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Asn1773Tyr Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Asp1155Ala Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Asp1242Asn Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Asp1594His Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Asp1740Asn Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Asp1789Asn Conflicting Single submitter
dilated cardiomyopathy 1E
SCN5A p.Asp197Gly Conflicting Single submitter
Brugada syndrome 1
SCN5A p.Asp2002Asn Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Asp870His Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Asp872Asn Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Cys335Arg Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Cys982Arg Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Gln1152His Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Gln1831Glu Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Gln1908Arg Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Gln692Lys Conflicting Single submitter
cardiomyopathy
SCN5A p.Gln90Lys Conflicting Single submitter
SCN5A p.Glu1106Lys Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Glu1230Lys Conflicting Single submitter
familial long QT syndrome
SCN5A p.Glu1573Asp Conflicting Single submitter
Brugada syndrome 1
SCN5A p.Glu1573Lys Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Glu1937Asp Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Glu1953Lys Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Glu346Lys Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Glu901Lys Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Gly1261Ser Conflicting Single submitter
ventricular fibrillation, paroxysmal familial, type 1
SCN5A p.Gly1641Glu Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Gly1660Arg Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Gly1934Ser Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Gly1991Ala Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Gly274Ser Conflicting Single submitter
Brugada syndrome
SCN5A p.Gly292Ser Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Gly35Ser Conflicting Single submitter
SCN5A-related disorder
SCN5A p.Gly579Arg Conflicting Single submitter
Brugada syndrome 1
SCN5A p.Gly584Arg Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Gly615Glu Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Gly639Arg Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Gly833Arg Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Gly926Asp Conflicting Single submitter
Brugada syndrome 1
SCN5A p.His1996Arg Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.His588Asn Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.His886Pro Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Ile1333Val Conflicting Single submitter
SCN5A-related disorder
SCN5A p.Ile1465Thr Conflicting Single submitter
Brugada syndrome 1
SCN5A p.Ile1835Thr Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Ile1967Met Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Ile1967Val Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Ile230Thr Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Ile424Met Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Leu1216Arg Conflicting Single submitter
SCN5A p.Leu1411Phe Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Leu1500Val Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Leu1785Pro Conflicting Single submitter
long QT syndrome 3
SCN5A p.Leu227Pro Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Leu567Gln Conflicting Single submitter
atrial fibrillation, familial, 10
SCN5A p.Lys1476Thr Conflicting Single submitter
SCN5A-related disorder
SCN5A p.Met1244Ile Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Met1497Thr Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Met1497Val Conflicting Single submitter
SCN5A-related disorder
SCN5A p.Met1675Val Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Met1765Lys Conflicting Single submitter
sick sinus syndrome 1
SCN5A p.Met1765Val Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Met520Val Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Met764Thr Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Phe1343Leu Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Phe1472Leu Conflicting Single submitter
SCN5A p.Phe2003Leu Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Phe2003Ser Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Phe2003Val Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Pro1154Ser Conflicting Single submitter
Brugada syndrome 1
SCN5A p.Pro1505Ser Conflicting Single submitter
Brugada syndrome 1
SCN5A p.Pro1883Leu Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Pro1961Leu Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Pro2004Leu Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Pro2005Ala Conflicting Single submitter
cardiomyopathy
SCN5A p.Pro336Leu Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Pro648Leu Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Ser1903Leu Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Ser1952Asn Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Ser1965Cys Conflicting Single submitter
cardiac conduction defect
SCN5A p.Ser216Leu Conflicting Single submitter
ventricular tachycardia
SCN5A p.Ser42Asn Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Ser705Phe Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Thr1303Met Conflicting Single submitter
SCN5A-related disorder
SCN5A p.Thr1708Met Conflicting Single submitter
Brugada syndrome
SCN5A p.Thr1778Met Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Thr220Ile Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Thr370Met Conflicting Single submitter
dilated cardiomyopathy 1A
SCN5A p.Thr37Ala Conflicting Single submitter
cardiac rhythm disease

Predicted LoF vs a conflicting call 13

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

SCN5A c.3387+1G>A Conflicting Single submitter
dilated cardiomyopathy 1E
SCN5A c.393-1C>T Conflicting Single submitter
Cardiovascular phenotype
SCN5A c.612-1G>C Conflicting Single submitter
Inborn genetic diseases
SCN5A c.612-2A>G Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Arg1943Ter Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Arg1957Ter Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Asp1740fs Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Leu1895fs Conflicting Single submitter
Brugada syndrome
SCN5A p.Met1Leu Conflicting Single submitter
Cardiovascular phenotype
SCN5A p.Pro1941fs Conflicting Single submitter
Brugada syndrome
SCN5A p.Ser88fs Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Ter2016= Conflicting Single submitter
cardiac rhythm disease
SCN5A p.Tyr205Ter Conflicting Single submitter
cardiac rhythm disease

Predictors lean, ClinVar uncertain 1302

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1302

SCN5A p.Ala110Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ala1141Val Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala1147Ser Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala1147Thr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala1179Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ala123Val Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ala1356Val Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ala1496Pro Uncertain significance Multiple submitters
SCN5A p.Ala1528Asp Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala166Asp Uncertain significance Multiple submitters
Brugada syndrome 1
SCN5A p.Ala1804Val Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ala1819Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ala1855Pro Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala185Val Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala1869Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ala1869Thr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala1869Val Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala1881Val Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala1931Thr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala1982Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ala2001Thr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala204Thr Uncertain significance Multiple submitters
Brugada syndrome 1
SCN5A p.Ala217Val Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ala22Val Uncertain significance Multiple submitters
dilated cardiomyopathy 1E
SCN5A p.Ala242Thr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala286Pro Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala29Val Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala332Thr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala344Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ala385Ser Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala422Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ala425Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ala467Ser Uncertain significance Multiple submitters
Brugada syndrome 1
SCN5A p.Ala505Thr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala51Val Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala551Val Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala586Thr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala606Thr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala647Asp Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala647Ser Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala647Val Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala658Ser Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala887Val Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg1023Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg1173Gln Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg1174Cys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg1174His Uncertain significance Multiple submitters
ventricular fibrillation, paroxysmal familial, type 1
SCN5A p.Arg1194Cys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg1194His Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg1302Trp Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg1305Gly Uncertain significance Multiple submitters
ventricular fibrillation, paroxysmal familial, type 1
SCN5A p.Arg1308Cys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg1308His Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg1315Gln Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg1315Pro Uncertain significance Multiple submitters
SCN5A p.Arg1431Ser Uncertain significance Multiple submitters
Brugada syndrome 1
SCN5A p.Arg14His Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg1511Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg1511Leu Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg1582His Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg1738Gln Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg179Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg179Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg1846Gly Uncertain significance Multiple submitters
ventricular fibrillation, paroxysmal familial, type 1
SCN5A p.Arg1897Cys Uncertain significance Multiple submitters
dilated cardiomyopathy 1E
SCN5A p.Arg190Trp Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg1912His Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg1957Leu Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg1957Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg2011Cys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg2011His Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg34His Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg433Cys Uncertain significance Multiple submitters
SCN5A-related disorder
SCN5A p.Arg433His Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg475Ser Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg481Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg493Lys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg513Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg513Pro Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg517Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg517Ser Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg523His Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg53Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg568His Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg569Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg620Cys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg620His Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg620Leu Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg659Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg661Trp Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg689His Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg689Pro Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg693Leu Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg800His Uncertain significance Multiple submitters
atrial fibrillation, familial, 10
SCN5A p.Arg808His Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg8Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg965Leu Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg988Gln Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asn109Lys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asn1353His Uncertain significance Multiple submitters
SCN5A p.Asn144Thr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asn1462Tyr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asn1557Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asn1591Tyr Uncertain significance Multiple submitters
Brugada syndrome 1
SCN5A p.Asn1677Ser Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asn1735Asp Uncertain significance Multiple submitters
SCN5A p.Asn1836Lys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asn194Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asn194Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asn1954Thr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asn1986Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asn288Ser Uncertain significance Multiple submitters
familial long QT syndrome
SCN5A p.Asn291His Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asn291Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asn3Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asn470Lys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asn592Ser Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asn70Lys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asn70Ser Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asn834Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asp1155Gly Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asp1162Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asp1242Glu Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asp1242Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asp1522Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asp152Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asp152Glu Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asp1728Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asp1801Glu Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asp1939Asn Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asp197Asn Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asp197Tyr Uncertain significance Multiple submitters
dilated cardiomyopathy 1E
SCN5A p.Asp1985Asn Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asp1993His Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asp1999His Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asp1999Tyr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asp2008Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asp2010Gly Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asp297Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asp297His Uncertain significance Multiple submitters
Sudden cardiac death
SCN5A p.Asp305Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asp608Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asp629Tyr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asp772Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asp785Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asp883Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Cys1175Arg Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Cys1538Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Cys1574Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Cys1574Tyr Uncertain significance Multiple submitters
cardiac rhythm disease

Predictors split 571

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 571

SCN5A p.Ala110Val Uncertain significance Multiple submitters
SCN5A p.Ala1426Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ala149Val Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ala1580Ser Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala166Thr Likely benign Multiple submitters
Cardiovascular phenotype
SCN5A p.Ala1697Thr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala1745Val Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala1827Thr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala1923Val Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala1948Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ala251Thr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala2Thr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala385Thr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala413Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ala413Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ala60Pro Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ala60Thr Uncertain significance Multiple submitters
SCN5A p.Ala662Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ala735Gly Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg1027Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg1231Gln Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg14Cys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg1637Gln Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg1825Cys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg1846Cys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg1846His Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg1859Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg1896Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg1896Trp Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg1909Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg190Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg1918Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg1918His Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg1928Cys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg1928His Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg27Cys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg340Trp Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg376His Pathogenic/Likely pathogenic Multiple submitters
Brugada syndrome
SCN5A p.Arg523Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg533Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg533Ser Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg535Gln Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg53Trp Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg569Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg569Trp Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg659Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg661Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg680Cys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg689Cys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg693Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg800Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Arg800Leu Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Arg8Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asn1442Lys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asn1514Ser Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asn1721Asp Uncertain significance Multiple submitters
Brugada syndrome
SCN5A p.Asn1733Lys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asn1764Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asn1830His Uncertain significance Multiple submitters
sick sinus syndrome 1
SCN5A p.Asn834Lys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asp1162Tyr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asp1369Gly Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asp1369Tyr Uncertain significance Multiple submitters
SCN5A p.Asp1688Asn Uncertain significance Multiple submitters
dilated cardiomyopathy 1E
SCN5A p.Asp1713Asn Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asp1791Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asp1791Val Uncertain significance Multiple submitters
sick sinus syndrome 1
SCN5A p.Asp356Asn Pathogenic/Likely pathogenic Multiple submitters
Unexplained death in infancy and sudden unexplained death in childhood
SCN5A p.Asp501Gly Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asp536His Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asp545Val Uncertain significance Multiple submitters
SCN5A p.Asp651His Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Asp651Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Asp82Glu Uncertain significance Multiple submitters
SCN5A-related disorder
SCN5A p.Asp84Asn Uncertain significance Multiple submitters
Brugada syndrome
SCN5A p.Cys1166Tyr Uncertain significance Multiple submitters
long QT syndrome 3
SCN5A p.Cys1177Ser Uncertain significance Multiple submitters
long QT syndrome 3
SCN5A p.Gln245Lys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Gln912Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Glu1137Ala Uncertain significance Multiple submitters
sick sinus syndrome 1
SCN5A p.Glu1137Lys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Glu1230Ala Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Glu1294Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Glu1488Asp Uncertain significance Multiple submitters
familial long QT syndrome
SCN5A p.Glu1803Gln Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Glu1822Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Glu25Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Glu30Gly Uncertain significance Multiple submitters
familial long QT syndrome
SCN5A p.Glu428Lys Uncertain significance Multiple submitters
sick sinus syndrome 1
SCN5A p.Glu462Ala Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Glu462Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Glu48Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Glu654Lys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Glu655Lys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Glu674Gln Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Glu737Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Glu867Lys Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Gly1138Asp Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Gly1187Glu Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Gly1291Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Gly1405Ala Uncertain significance Multiple submitters
SCN5A p.Gly1481Asp Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Gly1638Glu Uncertain significance Multiple submitters
SCN5A p.Gly1714Asp Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Gly319Arg Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Gly351Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Gly552Arg Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Gly69Asp Uncertain significance Multiple submitters
atrial fibrillation, familial, 10
SCN5A p.Gly797Val Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Gly874Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Gly99Ser Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Gly9Ser Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.His1914Tyr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.His278Arg Uncertain significance Multiple submitters
SCN5A p.His278Tyr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.His350Gln Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.His557Leu Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.His557Tyr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ile102Val Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ile1423Phe Uncertain significance Multiple submitters
SCN5A p.Ile1523Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ile1592Met Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ile1599Thr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ile1602Val Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ile1629Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ile1757Val Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ile1808Met Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ile1808Val Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ile1852Val Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ile24Thr Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ile388Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ile397Val Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ile727Val Uncertain significance Multiple submitters
SCN5A p.Ile759Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Ile759Val Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Ile891Thr Uncertain significance Multiple submitters
SCN5A p.Ile925Val Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Leu1193Met Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Leu1254Met Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Leu1282Met Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Leu142Phe Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Leu1715Phe Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Leu1920Ser Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Leu212Val Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Leu21Val Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Leu441Phe Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Leu466Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
SCN5A p.Leu618Phe Benign/Likely benign Multiple submitters
Brugada syndrome 1
SCN5A p.Leu619Phe Uncertain significance Multiple submitters
cardiac rhythm disease
SCN5A p.Leu729Phe Uncertain significance Multiple submitters
cardiac rhythm disease

All SCN5A variants

Pathogenic 241

c.3837+1G>A Multiple submitters SCN5A-related disorder
c.611+1G>A Multiple submitters Cardiovascular phenotype
c.934+1G>A Multiple submitters Brugada syndrome
p.Arg14fs Multiple submitters Cardiovascular phenotype
p.Arg1622Gln Multiple submitters Cardiovascular phenotype
p.Arg1622Ter Multiple submitters atrial fibrillation, familial, 10
p.Arg1628Ter Multiple submitters Cardiovascular phenotype
p.Arg1631Cys Multiple submitters SCN5A-related disorder
p.Arg222Ter Multiple submitters Brugada syndrome 1
p.Arg367His Multiple submitters Cardiovascular phenotype
p.Arg43Ter Multiple submitters cardiac rhythm disease
p.Arg535Ter Multiple submitters familial dilated cardiomyopathy
p.Asn1442fs Multiple submitters Brugada syndrome
p.Asp1165fs Multiple submitters Cardiovascular phenotype
p.Asp1274Asn Multiple submitters Cardiovascular phenotype
p.Cys1362fs Multiple submitters Cardiovascular phenotype
p.Cys649Ter Multiple submitters Brugada syndrome 1
p.Gln1475Ter Multiple submitters Brugada syndrome (shorter-than-normal QT interval)
p.Gln1506_Pro1508del Multiple submitters Cardiovascular phenotype
p.Gln371Ter Multiple submitters cardiac rhythm disease
p.Gln646fs Multiple submitters SCN5A-related disorder
p.Gln73Ter Multiple submitters Cardiovascular phenotype
p.Gln779fs Multiple submitters
p.Glu1164fs Multiple submitters Brugada syndrome 1
p.Glu302Ter Multiple submitters Brugada syndrome (shorter-than-normal QT interval)
p.Glu488Ter Multiple submitters Brugada syndrome
p.Glu553Ter Multiple submitters Brugada syndrome
p.Gly1407Arg Multiple submitters cardiac rhythm disease
p.Gly1742Glu Multiple submitters Brugada syndrome 1
p.Gly752Arg Multiple submitters Cardiovascular phenotype
p.His1199fs Multiple submitters cardiac rhythm disease
p.His585fs Multiple submitters
p.Ile1767Val Multiple submitters Cardiovascular phenotype
p.Ile723fs Multiple submitters Brugada syndrome
p.Ile759fs Multiple submitters Cardiovascular phenotype
p.Leu1255fs Multiple submitters Cardiovascular phenotype
p.Leu342fs Multiple submitters Cardiovascular phenotype
p.Leu702fs Multiple submitters
p.Leu813fs Multiple submitters Brugada syndrome
p.Lys1232fs Multiple submitters Cardiovascular phenotype
p.Lys1396fs Multiple submitters Cardiovascular phenotype
p.Lys63fs Multiple submitters cardiac rhythm disease
p.Met903fs Multiple submitters
p.Phe851fs Multiple submitters Cardiovascular phenotype
p.Phe861fs Multiple submitters Cardiovascular phenotype
p.Pro1131fs Multiple submitters Cardiovascular phenotype
p.Pro1331fs Multiple submitters SCN5A-related disorder
p.Pro1331Leu Multiple submitters long QT syndrome
p.Pro495fs Multiple submitters Brugada syndrome
p.Ser571fs Multiple submitters
p.Thr1460_Leu1461insTer Multiple submitters Cardiovascular phenotype
p.Thr632fs Multiple submitters Cardiovascular phenotype
p.Trp1190Ter Multiple submitters SCN5A-related disorder
p.Trp1272Ter Multiple submitters
p.Trp156Ter Multiple submitters
p.Trp1590Ter Multiple submitters cardiac rhythm disease
p.Trp301fs Multiple submitters Brugada syndrome
p.Trp360Ter Multiple submitters
p.Tyr1393Ter Multiple submitters Cardiovascular phenotype
p.Tyr1794Cys Multiple submitters Cardiovascular phenotype
p.Tyr378Ter Multiple submitters
p.Tyr389Ter Multiple submitters
p.Tyr68Ter Multiple submitters Cardiovascular phenotype
p.Val1172fs Multiple submitters
p.Val1762Met Multiple submitters SUDDEN INFANT DEATH SYNDROME
p.Val411Met Multiple submitters long QT syndrome
p.Val845fs Multiple submitters Cardiovascular phenotype
c.1140+2T>G Single submitter
c.1890+2T>G Single submitter long QT syndrome 3
c.2023+1G>T Single submitter
c.2023+2T>A Single submitter
c.2787+2T>A Single submitter Brugada syndrome 1
c.3960+1G>T Single submitter
c.3960+2T>C Single submitter progressive familial heart block, type 1A
c.4246-706del Single submitter
c.475_482+3del Single submitter
p.Ala1325Ser Single submitter familial long QT syndrome
p.Ala1329Pro Single submitter familial long QT syndrome
p.Ala1639fs Single submitter
p.Ala166fs Single submitter
p.Ala410fs Single submitter
p.Ala551fs Single submitter
p.Ala735Glu Single submitter Brugada syndrome
p.Arg1305fs Single submitter
p.Arg1431fs Single submitter
p.Arg190fs Single submitter Cardiovascular phenotype
p.Arg219fs Single submitter
p.Arg225Pro Single submitter
p.Arg893Leu Single submitter Brugada syndrome 1
p.Asn1288fs Single submitter
p.Asn1514fs Single submitter
p.Asn313fs Single submitter cardiac rhythm disease
p.Asn841fs Single submitter Cardiovascular phenotype
p.Asp1142fs Single submitter
p.Asp1274Tyr Single submitter
p.Asp1422_Arg1431del Single submitter
p.Asp1815fs Single submitter
p.Asp197His Single submitter
p.Asp349fs Single submitter
p.Cys145Ter Single submitter Brugada syndrome 1
p.Cys1538Ter Single submitter
p.Gln1152Ter Single submitter Brugada syndrome 1
p.Gln1413Ter Single submitter
p.Gln1474fs Single submitter
p.Gln1490fs Single submitter
p.Gln1490Ter Single submitter Brugada syndrome 1
p.Gln1806Ter Single submitter
p.Gln1831fs Single submitter
p.Gln40Ter Single submitter
p.Gln435fs Single submitter
p.Gln660Ter Single submitter Brugada syndrome 1
p.Gln859fs Single submitter
p.Gln90Ter Single submitter
p.Glu1132Ter Single submitter
p.Glu1207Ter Single submitter
p.Glu1230Ter Single submitter Brugada syndrome 1
p.Glu1795Ter Single submitter
p.Glu1809Ter Single submitter
p.Glu1863Ter Single submitter
p.Glu19fs Single submitter
p.Glu208Ter Single submitter
p.Glu346Ter Single submitter Brugada syndrome 1
p.Glu44fs Single submitter
p.Glu473Ter Single submitter
p.Glu488fs Single submitter Cardiovascular phenotype
p.Glu625Ter Single submitter cardiac rhythm disease
p.Glu635fs Single submitter Cardiovascular phenotype
p.Glu635Ter Single submitter Cardiovascular phenotype
p.Glu655Ter Single submitter Brugada syndrome 1
p.Glu744Ter Single submitter
p.Glu746Ter Single submitter
p.Glu78Ter Single submitter
p.Glu898Ter Single submitter
p.Gly1138fs Single submitter
p.Gly1604Arg Single submitter
p.Gly1630Asp Single submitter ventricular fibrillation, paroxysmal familial, type 1
p.Gly235_Leu236insTer Single submitter
p.Gly35fs Single submitter
p.Gly485fs Single submitter
p.Gly69fs Single submitter
p.Gly780_Trp781insTer Single submitter
p.Ile1153fs Single submitter Cardiovascular phenotype
p.Ile120fs Single submitter
p.Ile1298fs Single submitter
p.Ile1376fs Single submitter
p.Ile848fs Single submitter
p.Leu1282fs Single submitter
p.Leu1513fs Single submitter
p.Leu1665fs Single submitter
p.Leu368fs Single submitter
p.Leu409fs Single submitter
p.Leu567fs Single submitter Brugada syndrome
p.Leu729del Single submitter familial isolated arrhythmogenic right ventricular dysplasia
p.Leu80fs Single submitter
p.Leu914fs Single submitter Brugada syndrome
p.Lys1195fs Single submitter
p.Lys1232Ter Single submitter
p.Lys1477Ter Single submitter
p.Lys1499del Single submitter
p.Lys158fs Single submitter
p.Lys1613fs Single submitter
p.Lys1613Ter Single submitter
p.Lys767fs Single submitter
p.Lys863Ter Single submitter
p.Met1253fs Single submitter
p.Met138fs Single submitter
p.Met1424fs Single submitter
p.Met1690fs Single submitter
p.Met1765fs Single submitter
p.Met1765Ile Single submitter ⚠
p.Met1765Leu Single submitter long QT syndrome 3 ⚠
p.Phe1292fs Single submitter
p.Phe1459fs Single submitter cardiac rhythm disease
p.Phe1693Ter Single submitter
p.Phe1759Cys Single submitter
p.Phe1759fs Single submitter
p.Phe1793fs Single submitter
p.Phe1807fs Single submitter
p.Phe272fs Single submitter
p.Phe530fs Single submitter
p.Phe756fs Single submitter
p.Pro1186fs Single submitter
p.Pro1331Ser Single submitter
p.Pro153fs Single submitter
p.Pro1840fs Single submitter
p.Ser1457Tyr Single submitter familial long QT syndrome
p.Ser1552fs Single submitter
p.Ser1717fs Single submitter
p.Ser199fs Single submitter
p.Ser231fs Single submitter
p.Ser231Ter Single submitter Cardiovascular phenotype
p.Ser519fs Single submitter
p.Ser525fs Single submitter
p.Ser528fs Single submitter
p.Ser560Ter Single submitter Cardiovascular phenotype
p.Ser799fs Single submitter
p.Ser866Ter Single submitter
p.Ser873Ter Single submitter
p.Thr1366fs Single submitter Brugada syndrome
p.Thr257fs Single submitter Cardiovascular phenotype
p.Thr518fs Single submitter Brugada syndrome 1
p.Thr843Ala Single submitter familial long QT syndrome
p.Trp1191Ter Single submitter
p.Trp1270Ter Single submitter
p.Trp1344Ter Single submitter
p.Trp1394fs Single submitter Brugada syndrome
p.Trp1394Ter Single submitter cardiac rhythm disease
p.Trp1439Ter Single submitter
p.Trp1712Ter Single submitter
p.Trp1797fs Single submitter
p.Trp193Ter Single submitter
p.Trp195Ter Single submitter Cardiovascular phenotype
p.Trp301Ter Single submitter
p.Trp374Ter Single submitter
p.Trp687Ter Single submitter
p.Trp697Ter Single submitter
p.Trp781Ter Single submitter SCN5A-related disorder
p.Trp822Ter Single submitter Brugada syndrome
p.Trp879Ter Single submitter
p.Trp904Ter Single submitter
p.Tyr112fs Single submitter
p.Tyr1441fs Single submitter
p.Tyr159Ter Single submitter
p.Tyr1614_Phe1615delinsTer Single submitter
p.Tyr416fs Single submitter
p.Tyr694Ter Single submitter Cardiovascular phenotype
p.Tyr775Ter Single submitter
p.Tyr865Ter Single submitter Cardiovascular phenotype
p.Val1322fs Single submitter
p.Val215fs Single submitter
p.Val411fs Single submitter Cardiovascular phenotype
c.611+3_611+4dup No assertion criteria Brugada syndrome 1
p.Ala1710fs No assertion criteria HEART BLOCK, NONPROGRESSIVE
p.Gly514Cys No assertion criteria CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE ⚠
p.Leu828Val No assertion criteria long QT syndrome 3
p.Lys1503_Pro1505del No assertion criteria branchiootic syndrome 1
p.Ser36fs No assertion criteria Brugada syndrome 1
p.Trp1420Ter No assertion criteria Brugada syndrome 1
p.Trp1439fs No assertion criteria Brugada syndrome
p.Tyr1794_Glu1795insAsp No assertion criteria long QT syndrome 3
p.Tyr1794His No assertion criteria Brugada syndrome 1

Pathogenic/Likely pathogenic 85

c.1140+1G>A Multiple submitters SCN5A-related disorder
c.1338+2T>A Multiple submitters Cardiovascular phenotype
c.1891-1G>A Multiple submitters
c.3960+1G>A Multiple submitters Cardiovascular phenotype
c.3961-2_3961del Multiple submitters
c.4242+1G>C Multiple submitters familial long QT syndrome
c.4242+2T>A Multiple submitters
c.4243-2del Multiple submitters Cardiovascular phenotype
c.4296+1del Multiple submitters Cardiovascular phenotype
c.4813+3_4813+6dup Multiple submitters Brugada syndrome 1
c.483-1G>A Multiple submitters Brugada syndrome
p.Ala1329Thr Multiple submitters SCN5A-related disorder
p.Ala606fs Multiple submitters
p.Ala735Val Multiple submitters familial long QT syndrome
p.Arg104Trp Multiple submitters sick sinus syndrome 1
p.Arg121Gln Multiple submitters Brugada syndrome 1
p.Arg121Trp Multiple submitters atrial fibrillation, familial, 10
p.Arg1315Ter Multiple submitters Brugada syndrome (shorter-than-normal QT interval)
p.Arg1628Gln Multiple submitters long QT syndrome 3
p.Arg1637Ter Multiple submitters Brugada syndrome
p.Arg1643Cys Multiple submitters Cardiovascular phenotype
p.Arg1643His Multiple submitters cardiac rhythm disease
p.Arg179Ter Multiple submitters cardiac rhythm disease
p.Arg222Gln Multiple submitters SCN5A-related disorder
p.Arg222Gly Multiple submitters Cardiovascular phenotype
p.Arg225Trp Multiple submitters Brugada syndrome
p.Arg282His Multiple submitters Cardiovascular phenotype ⚠
p.Arg367Cys Multiple submitters Brugada syndrome
p.Arg376Cys Multiple submitters Cardiovascular phenotype
p.Arg376His Multiple submitters Brugada syndrome ⚠
p.Arg526fs Multiple submitters Brugada syndrome 1
p.Arg814Gln Multiple submitters Cardiovascular phenotype
p.Arg814Trp Multiple submitters dilated cardiomyopathy
p.Arg878Cys Multiple submitters Cardiovascular phenotype
p.Arg878His Multiple submitters Cardiovascular phenotype
p.Arg893His Multiple submitters Brugada syndrome
p.Asn1324Ser Multiple submitters cardiac rhythm disease ⚠
p.Asn406Lys Multiple submitters SCN5A-related disorder
p.Asp1594Asn Multiple submitters Cardiovascular phenotype
p.Asp1789Gly Multiple submitters familial long QT syndrome
p.Asp356Asn Multiple submitters Unexplained death in infancy and sudden unexplained death in childhood ⚠
p.Gln1382Ter Multiple submitters Cardiovascular phenotype
p.Gln1517Ter Multiple submitters SCN5A-related disorder
p.Gln32Ter Multiple submitters Cardiovascular phenotype
p.Gln379Ter Multiple submitters
p.Gln59Ter Multiple submitters Brugada syndrome 1
p.Gln641Ter Multiple submitters
p.Gln859Ter Multiple submitters cardiac rhythm disease
p.Glu1224Lys Multiple submitters cardiac rhythm disease
p.Glu1573Ter Multiple submitters Brugada syndrome 1
p.Glu161Lys Multiple submitters Brugada syndrome 1
p.Glu1783Lys Multiple submitters Brugada syndrome
p.Glu1822fs Multiple submitters Cardiovascular phenotype
p.Glu955fs Multiple submitters SCN5A-related disorder
p.Gly1318Val Multiple submitters Cardiovascular phenotype
p.Gly1572= Multiple submitters SCN5A-related disorder
p.Gly1742Arg Multiple submitters Cardiovascular phenotype
p.Gly213Asp Multiple submitters SCN5A-related disorder
p.Ile141Val Multiple submitters SCN5A-related disorder
p.Ile1484Val Multiple submitters long QT syndrome 3 ⚠
p.Leu1785fs Multiple submitters cardiac rhythm disease
p.Leu1820fs Multiple submitters Cardiovascular phenotype
p.Leu798fs Multiple submitters Brugada syndrome
p.Leu828Phe Multiple submitters Cardiovascular phenotype
p.Lys1492del Multiple submitters Brugada syndrome 1
p.Phe1458fs Multiple submitters Brugada syndrome 1
p.Phe1616del Multiple submitters Cardiovascular phenotype
p.Phe1793_Tyr1794insTer Multiple submitters Cardiovascular phenotype
p.Phe86fs Multiple submitters Cardiovascular phenotype
p.Ser1709Leu Multiple submitters Cardiovascular phenotype
p.Ser1786fs Multiple submitters
p.Ser354fs Multiple submitters Cardiovascular phenotype
p.Ser476fs Multiple submitters Cardiovascular phenotype
p.Ser910Leu Multiple submitters long QT syndrome 3
p.Thr1619Lys Multiple submitters Cardiovascular phenotype
p.Thr1619Met Multiple submitters Cardiovascular phenotype
p.Thr1805fs Multiple submitters ventricular fibrillation, paroxysmal familial, type 1
p.Thr353Ile Multiple submitters Brugada syndrome
p.Thr630= Multiple submitters SCN5A-related disorder
p.Trp193fs Multiple submitters Cardiovascular phenotype
p.Trp374Gly Multiple submitters Brugada syndrome
p.Tyr1227Ter Multiple submitters Brugada syndrome (shorter-than-normal QT interval)
p.Tyr1448Cys Multiple submitters Brugada syndrome
p.Val1399fs Multiple submitters
p.Gly538fs Single submitter sick sinus syndrome 1

Likely pathogenic 154

c.2263-2A>G Multiple submitters Brugada syndrome
c.2437-1G>C Multiple submitters Cardiovascular phenotype
c.273+1G>A Multiple submitters
c.2787+1G>T Multiple submitters Brugada syndrome 1
c.3508+1G>T Multiple submitters cardiac rhythm disease
c.3509-1G>C Multiple submitters Cardiovascular phenotype
c.393-2A>G Multiple submitters
c.3954_3960+1dup Multiple submitters cardiac rhythm disease
c.4296+1G>A Multiple submitters Brugada syndrome
c.4296+1G>T Multiple submitters Cardiovascular phenotype
c.703+1G>C Multiple submitters Brugada syndrome 1
c.704-2A>G Multiple submitters Cardiovascular phenotype
c.935-3C>G Multiple submitters Brugada syndrome 1
c.999-1G>A Multiple submitters Cardiovascular phenotype
p.Arg1637Leu Multiple submitters long QT syndrome 3
p.Asp1713Gly Multiple submitters Brugada syndrome 1
p.Gly1739Arg Multiple submitters cardiac rhythm disease
p.Gly1844fs Multiple submitters Brugada syndrome
p.His1848Arg Multiple submitters Cardiovascular phenotype
p.Ile239Thr Multiple submitters Cardiovascular phenotype
p.Met1874Thr Multiple submitters atrial fibrillation
p.Pro1331Arg Multiple submitters
p.Ser809fs Multiple submitters Brugada syndrome 1
c.1141-1G>A Single submitter
c.1141-2A>G Single submitter
c.1519-1G>A Single submitter
c.1890+1G>A Single submitter SCN5A-related disorder
c.2023+1G>A Single submitter Cardiovascular phenotype
c.2024-1G>A Single submitter
c.2262+1G>A Single submitter SCN5A-related disorder
c.2262+2T>C Single submitter SCN5A-related disorder
c.2263-1G>C Single submitter
c.2436+1G>C Single submitter
c.274-9_274-2del Single submitter
c.3388-1G>A Single submitter
c.3508+1G>C Single submitter
c.3509-1G>A Single submitter
c.3663+1G>C Single submitter Cardiovascular phenotype
c.3663+2T>C Single submitter
c.3664-1G>C Single submitter
c.3838-1G>C Single submitter Cardiovascular phenotype
c.3838-2A>T Single submitter
c.392+2T>C Single submitter
c.392+2T>G Single submitter
c.4242+1G>T Single submitter Cardiovascular phenotype
c.4243-2A>G Single submitter Brugada syndrome
c.4296+1dup Single submitter ventricular tachycardia
c.4297-1G>A Single submitter
c.4297-2A>C Single submitter
c.4513_4539+1del Single submitter SCN5A-related disorder
c.4539+2T>C Single submitter
c.4540-1G>T Single submitter
c.4810+5G>A Single submitter Brugada syndrome 1
c.482+1G>C Single submitter Cardiovascular phenotype
c.611+1G>T Single submitter Cardiovascular phenotype
c.612-1G>A Single submitter Brugada syndrome (shorter-than-normal QT interval)
c.703+1G>T Single submitter cardiac rhythm disease
c.935-1G>A Single submitter
c.935-2A>G Single submitter
c.998+1G>C Single submitter Cardiovascular phenotype
c.998+1G>T Single submitter Cardiovascular phenotype
p.Arg1431Trp Single submitter
p.Arg1622Leu Single submitter long QT syndrome 3
p.Arg1625Pro Single submitter SCN5A-related disorder
p.Arg1637Pro Single submitter
p.Arg376Leu Single submitter atrial fibrillation ⚠
p.Arg383Ser Single submitter Brugada syndrome 1
p.Arg458fs Single submitter Brugada syndrome 1
p.Arg893Ser Single submitter Brugada syndrome 1
p.Asn1540fs Single submitter Brugada syndrome
p.Asn1773fs Single submitter cardiac rhythm disease
p.Asn548fs Single submitter SCN5A-related disorder
p.Asp1429Gly Single submitter SCN5A-related disorder
p.Asp252Asn Single submitter
p.Asp356Tyr Single submitter Brugada syndrome 1
p.Cys1702Tyr Single submitter
p.Cys280Ter Single submitter Brugada syndrome 1
p.Gln1184Ter Single submitter
p.Gln1438Ter Single submitter Brugada syndrome 1
p.Gln1694Ter Single submitter
p.Gln419Ter Single submitter Syncope
p.Gln575Ter Single submitter SCN5A-related disorder
p.Glu1317Ter Single submitter
p.Glu1547Lys Single submitter Brugada syndrome ⚠
p.Glu161_Tyr162insTer Single submitter
p.Glu171Gln Single submitter SCN5A-related disorder
p.Glu1866Ter Single submitter
p.Glu1875Lys Single submitter ⚠
p.Glu1889Ter Single submitter SCN5A-related disorder
p.Glu1938Ter Single submitter
p.Glu19Ter Single submitter
p.Gly1432= Single submitter Brugada syndrome 1
p.Gly1480Glu Single submitter familial long QT syndrome ⚠
p.Gly400Trp Single submitter Brugada syndrome 1
p.Ile1465fs Single submitter Brugada syndrome
p.Ile1468fs Single submitter SCN5A-related disorder
p.Ile1468Phe Single submitter
p.Ile1629Lys Single submitter SCN5A-related disorder
p.Ile1761fs Single submitter
p.Ile849del Single submitter Brugada syndrome
p.Leu1313fs Single submitter
p.Leu1337Val Single submitter SCN5A-related disorder ⚠
p.Leu1461Gln Single submitter cardiac rhythm disease
p.Leu1785Gln Single submitter familial long QT syndrome
p.Leu250Val Single submitter
p.Lys521Ter Single submitter SCN5A-related disorder
p.Met1650Val Single submitter ⚠
p.Met1690Thr Single submitter ⚠
p.Phe1472Ile Single submitter Brugada syndrome 1
p.Phe1593Cys Single submitter long QT syndrome 3
p.Phe1751fs Single submitter Cardiovascular phenotype
p.Phe1759Tyr Single submitter SCN5A-related disorder ⚠
p.Phe358fs Single submitter SCN5A-related disorder
p.Phe892Ile Single submitter Brugada syndrome
p.Pro1437Ser Single submitter Brugada syndrome 1
p.Pro1510dup Single submitter
p.Pro1618fs Single submitter Brugada syndrome 1
p.Ser1217Ile Single submitter
p.Ser1385Ter Single submitter SCN5A-related disorder
p.Ser1502Pro Single submitter Cardiovascular phenotype
p.Ser1743Ile Single submitter ⚠
p.Ser1781fs Single submitter
p.Ser1811Ter Single submitter cardiac rhythm disease
p.Ser1814fs Single submitter cardiac rhythm disease
p.Ser1966Phe Single submitter Brugada syndrome 1 ⚠
p.Thr1487Lys Single submitter long QT syndrome 3
p.Thr1730fs Single submitter
p.Thr1857Ile Single submitter SCN5A-related disorder
p.Thr229Ile Single submitter AV nodal tachycardia
p.Trp1797Ter Single submitter Brugada syndrome
p.Trp374Cys Single submitter sick sinus syndrome 1
p.Trp899fs Single submitter SCN5A-related disorder
p.Trp899Ter Single submitter Brugada syndrome 1
p.Tyr1247Ter Single submitter dilated cardiomyopathy 1E
p.Tyr1265Ter Single submitter Brugada syndrome 1
p.Tyr1433Ter Single submitter
p.Tyr1448Ter Single submitter
p.Tyr403His Single submitter long QT syndrome 3
p.Tyr774fs Single submitter
p.Val1321Leu Single submitter
p.Val1323Gly Single submitter Brugada syndrome
p.Val1323Phe Single submitter
p.Val412fs Single submitter Brugada syndrome
c.3388-1G>C No assertion criteria Brugada syndrome 1
p.Asp1274Gly No assertion criteria Brugada syndrome
p.Glu610fs No assertion criteria Brugada syndrome
p.Glu655fs No assertion criteria SCN5A-related disorder
p.Ile1592Thr No assertion criteria dilated cardiomyopathy
p.Leu1304Pro No assertion criteria long QT syndrome 3
p.Leu177fs No assertion criteria dilated cardiomyopathy
p.Phe1570Leu No assertion criteria Brugada syndrome
p.Ser1300fs No assertion criteria Brugada syndrome
p.Ser1314Ter No assertion criteria Brugada syndrome
p.Tyr168Ter No assertion criteria Brugada syndrome 1

Conflicting classifications of pathogenicity 355

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

c.1141-3C>T Single submitter cardiac rhythm disease
c.1141-4C>T Single submitter cardiac rhythm disease
c.1338+3G>A Single submitter Cardiovascular phenotype
c.1890+14G>A Single submitter ventricular fibrillation, paroxysmal familial, type 1
c.1891-5C>G Single submitter Brugada syndrome 1
c.1891-8G>A Single submitter cardiac rhythm disease
c.2024-11T>A Single submitter SCN5A-related disorder
c.2262+18C>G Single submitter sick sinus syndrome 1
c.2263-5_2263-3del Single submitter cardiac rhythm disease
c.2436+12G>A Single submitter ventricular fibrillation, paroxysmal familial, type 1
c.2437-13C>T Single submitter ventricular fibrillation, paroxysmal familial, type 1
c.2437-3C>T Single submitter cardiac rhythm disease
c.2437-5C>A Single submitter cardiac rhythm disease
c.2437-7T>C Single submitter long QT syndrome 3
c.274-14C>G Single submitter cardiac rhythm disease
c.274-5C>G Single submitter ventricular fibrillation, paroxysmal familial, type 1
c.3387+1G>A Single submitter dilated cardiomyopathy 1E ⚠
c.3388-10_3388-9del Single submitter
c.3388-3T>C Single submitter cardiac rhythm disease
c.3388-7T>C Single submitter sick sinus syndrome 1
c.3509-3T>C Single submitter cardiac rhythm disease
c.3663+4C>G Single submitter cardiac rhythm disease
c.3664-12C>A Single submitter cardiac rhythm disease
c.3664-12C>G Single submitter cardiac rhythm disease
c.3664-7T>A Single submitter cardiac rhythm disease
c.3837+12C>T Single submitter SUDDEN INFANT DEATH SYNDROME
c.393-1C>T Single submitter Cardiovascular phenotype ⚠
c.393-4G>A Single submitter cardiac rhythm disease
c.393-5C>A Single submitter Cardiovascular phenotype
c.393-5C>T Single submitter Cardiovascular phenotype
c.3961-5T>C Single submitter cardiac rhythm disease
c.4296+6T>A Single submitter SCN5A-related disorder
c.4296+6T>C Single submitter cardiac rhythm disease
c.4297-14T>C Single submitter ventricular fibrillation, paroxysmal familial, type 1
c.4434+5G>A Single submitter cardiac rhythm disease
c.4540-10C>A Single submitter cardiac rhythm disease
c.4540-9_4540-8del Single submitter cardiac rhythm disease
c.4810+4G>A Single submitter Cardiovascular phenotype
c.4811-3C>T Single submitter Brugada syndrome
c.4811-5C>T Single submitter Cardiovascular phenotype
c.483-16G>A Single submitter
c.611+5G>A Single submitter cardiac rhythm disease
c.612-1G>C Single submitter Inborn genetic diseases ⚠
c.612-2A>G Single submitter Cardiovascular phenotype ⚠
c.703+6A>G Single submitter cardiac rhythm disease
c.934+4C>T Single submitter ventricular fibrillation, paroxysmal familial, type 1
c.935-5T>C Single submitter Cardiovascular phenotype
c.998+5G>A Single submitter dilated cardiomyopathy
c.*1414G>C Single submitter dilated cardiomyopathy 1E
c.*1820C>G Single submitter progressive familial heart block, type 1A
c.*5C>T Single submitter cardiac rhythm disease
c.*677G>A Single submitter ventricular fibrillation, paroxysmal familial, type 1
c.*889C>A Single submitter ventricular fibrillation, paroxysmal familial, type 1
c.*920G>C Single submitter ventricular fibrillation, paroxysmal familial, type 1
p.Ala1050Thr Single submitter cardiac rhythm disease ⚠
p.Ala1099Val Single submitter cardiac rhythm disease ⚠
p.Ala1112Val Single submitter Cardiovascular phenotype ⚠
p.Ala1179Val Single submitter Cardiovascular phenotype ⚠
p.Ala1185Thr Single submitter cardiac rhythm disease ⚠
p.Ala1220Val Single submitter Cardiovascular phenotype ⚠
p.Ala1325Asp Single submitter ⚠
p.Ala1406Gly Single submitter Brugada syndrome 1
p.Ala1427Ser Single submitter dilated cardiomyopathy 1E ⚠
p.Ala1679Thr Single submitter cardiac rhythm disease ⚠
p.Ala1817= Single submitter Cardiovascular phenotype
p.Ala1923Thr Single submitter long QT syndrome ⚠
p.Ala1931Val Single submitter dilated cardiomyopathy ⚠
p.Ala204Val Single submitter Cardiovascular phenotype ⚠
p.Ala226Val Single submitter cardiac rhythm disease ⚠
p.Ala286Val Single submitter cardiac rhythm disease ⚠
p.Ala447Gly Single submitter Cardiovascular phenotype ⚠
p.Ala541Thr Single submitter Cardiovascular phenotype ⚠
p.Ala572Phe Single submitter cardiac rhythm disease
p.Ala572Ser Single submitter long QT syndrome ⚠
p.Ala572Val Single submitter cardiomyopathy ⚠
p.Ala586_Leu587del Single submitter cardiac rhythm disease
p.Ala665Ser Single submitter Cardiovascular phenotype ⚠
p.Ala665Thr Single submitter Cardiovascular phenotype ⚠
p.Ala672Thr Single submitter Cardiovascular phenotype ⚠
p.Ala691Thr Single submitter cardiac rhythm disease ⚠
p.Arg1023His Single submitter cardiomyopathy ⚠
p.Arg104Gln Single submitter SCN5A-related disorder ⚠
p.Arg1173Trp Single submitter Cardiovascular phenotype ⚠
p.Arg1192Trp Single submitter Cardiovascular phenotype ⚠
p.Arg1231Trp Single submitter SCN5A-related disorder ⚠
p.Arg1302Gln Single submitter Cardiovascular phenotype ⚠
p.Arg1305Cys Single submitter Cardiovascular phenotype ⚠
p.Arg1305His Single submitter cardiac rhythm disease ⚠
p.Arg1305Leu Single submitter Cardiovascular phenotype ⚠
p.Arg1315Leu Single submitter long QT syndrome 3 ⚠
p.Arg1511Trp Single submitter cardiac rhythm disease ⚠
p.Arg1582Cys Single submitter SCN5A-related disorder ⚠
p.Arg15Gly Single submitter Cardiovascular phenotype ⚠
p.Arg1625Cys Single submitter cardiac rhythm disease ⚠
p.Arg1625His Single submitter cardiac rhythm disease ⚠
p.Arg1631His Single submitter Brugada syndrome ⚠
p.Arg1631Leu Single submitter Cardiovascular phenotype ⚠
p.Arg1738Trp Single submitter cardiac rhythm disease ⚠
p.Arg1825His Single submitter cardiac rhythm disease ⚠
p.Arg1897His Single submitter Cardiovascular phenotype ⚠
p.Arg18Gln Single submitter cardiac rhythm disease ⚠
p.Arg18Trp Single submitter dilated cardiomyopathy 1E ⚠
p.Arg190Gly Single submitter cardiac rhythm disease ⚠
p.Arg1912Cys Single submitter Cardiovascular phenotype ⚠
p.Arg1913Gly Single submitter cardiac rhythm disease ⚠
p.Arg1943Gln Single submitter cardiac rhythm disease ⚠
p.Arg1943Ter Single submitter cardiac rhythm disease ⚠
p.Arg1957Gln Single submitter Cardiovascular phenotype ⚠
p.Arg1957Ter Single submitter Cardiovascular phenotype ⚠
p.Arg1990Gln Single submitter cardiac rhythm disease ⚠
p.Arg1990Trp Single submitter sick sinus syndrome 1 ⚠
p.Arg2009Gly Single submitter cardiac rhythm disease ⚠
p.Arg219Cys Single submitter Brugada syndrome ⚠
p.Arg219His Single submitter SCN5A-related disorder ⚠
p.Arg225Gln Single submitter Brugada syndrome ⚠
p.Arg27His Single submitter cardiac rhythm disease ⚠
p.Arg282Cys Single submitter Cardiovascular phenotype ⚠
p.Arg340= Single submitter Cardiovascular phenotype
p.Arg340Gln Single submitter Brugada syndrome 1 ⚠
p.Arg43Gln Single submitter cardiac rhythm disease ⚠
p.Arg458Cys Single submitter Brugada syndrome 1 ⚠
p.Arg458His Single submitter cardiac rhythm disease ⚠
p.Arg481Trp Single submitter cardiac rhythm disease ⚠
p.Arg513His Single submitter cardiac rhythm disease ⚠
p.Arg523Cys Single submitter atrial fibrillation, familial, 10 ⚠
p.Arg526Cys Single submitter cardiac rhythm disease ⚠
p.Arg526His Single submitter cardiac rhythm disease ⚠
p.Arg533His Single submitter Cardiovascular phenotype ⚠
p.Arg568Cys Single submitter Cardiovascular phenotype ⚠
p.Arg680His Single submitter cardiac rhythm disease ⚠
p.Arg693His Single submitter cardiac rhythm disease ⚠
p.Arg808Cys Single submitter cardiac rhythm disease ⚠
p.Arg811Cys Single submitter cardiac rhythm disease ⚠
p.Arg811His Single submitter cardiac rhythm disease ⚠
p.Arg893Cys Single submitter cardiac rhythm disease ⚠
p.Arg986Trp Single submitter Cardiovascular phenotype ⚠
p.Asn1268Ser Single submitter Cardiovascular phenotype ⚠
p.Asn1335= Single submitter Cardiovascular phenotype
p.Asn134Ser Single submitter Cardiovascular phenotype ⚠
p.Asn1379del Single submitter Cardiovascular phenotype
p.Asn1442Ser Single submitter cardiac rhythm disease ⚠
p.Asn1733= Single submitter Cardiovascular phenotype
p.Asn1773Tyr Single submitter cardiac rhythm disease ⚠
p.Asn592Lys Single submitter cardiac rhythm disease ⚠
p.Asn598= Single submitter long QT syndrome 3
p.Asn688= Single submitter cardiac rhythm disease
p.Asp1155Ala Single submitter cardiac rhythm disease ⚠
p.Asp1242Asn Single submitter Cardiovascular phenotype ⚠
p.Asp1274Glu Single submitter Cardiovascular phenotype ⚠
p.Asp1279= Single submitter Cardiovascular phenotype
p.Asp1594His Single submitter cardiac rhythm disease ⚠
p.Asp1689Asn Single submitter Cardiovascular phenotype ⚠
p.Asp1740Asn Single submitter Cardiovascular phenotype ⚠
p.Asp1740fs Single submitter Cardiovascular phenotype ⚠
p.Asp1788= Single submitter cardiac rhythm disease
p.Asp1789Asn Single submitter dilated cardiomyopathy 1E ⚠
p.Asp1818Asn Single submitter Cardiovascular phenotype
p.Asp1868= Single submitter ventricular fibrillation, paroxysmal familial, type 1
p.Asp197Gly Single submitter Brugada syndrome 1 ⚠
p.Asp2002Asn Single submitter cardiac rhythm disease ⚠
p.Asp349Asn Single submitter cardiac rhythm disease ⚠
p.Asp349Gly Single submitter Cardiovascular phenotype ⚠
p.Asp870His Single submitter Cardiovascular phenotype ⚠
p.Asp872Asn Single submitter cardiac rhythm disease ⚠
p.Cys145= Single submitter Cardiovascular phenotype
p.Cys335Arg Single submitter Cardiovascular phenotype ⚠
p.Cys982Arg Single submitter cardiac rhythm disease ⚠
p.Gln1152His Single submitter cardiac rhythm disease ⚠
p.Gln1474Leu Single submitter ⚠
p.Gln1831Glu Single submitter Cardiovascular phenotype ⚠
p.Gln1908Arg Single submitter cardiac rhythm disease ⚠
p.Gln692Lys Single submitter cardiomyopathy ⚠
p.Gln90Lys Single submitter ⚠
p.Glu1106Lys Single submitter cardiac rhythm disease ⚠
p.Glu1230Lys Single submitter familial long QT syndrome ⚠
p.Glu1239Gln Single submitter Cardiovascular phenotype ⚠
p.Glu1384= Single submitter Cardiovascular phenotype
p.Glu1440Gln Single submitter Cardiovascular phenotype ⚠
p.Glu1489= Single submitter cardiac rhythm disease
p.Glu1573Asp Single submitter Brugada syndrome 1 ⚠
p.Glu1573Lys Single submitter cardiac rhythm disease ⚠
p.Glu161= Single submitter Cardiovascular phenotype
p.Glu1937Asp Single submitter Cardiovascular phenotype ⚠
p.Glu1953Lys Single submitter cardiac rhythm disease ⚠
p.Glu346Lys Single submitter Cardiovascular phenotype ⚠
p.Glu446= Single submitter Brugada syndrome 1
p.Glu446Lys Single submitter cardiac rhythm disease ⚠
p.Glu747del Single submitter Brugada syndrome 1
p.Glu901Lys Single submitter Cardiovascular phenotype ⚠
p.Gly1031= Single submitter Cardiovascular phenotype
p.Gly1261Ser Single submitter ventricular fibrillation, paroxysmal familial, type 1 ⚠
p.Gly1638= Single submitter progressive familial heart block, type 1A
p.Gly1641Glu Single submitter Cardiovascular phenotype ⚠
p.Gly1660Arg Single submitter Cardiovascular phenotype ⚠
p.Gly1711Ser Single submitter cardiac rhythm disease ⚠
p.Gly1934Ser Single submitter cardiac rhythm disease ⚠
p.Gly1991Ala Single submitter cardiac rhythm disease ⚠
p.Gly274Ser Single submitter Brugada syndrome ⚠
p.Gly292Ser Single submitter cardiac rhythm disease ⚠
p.Gly319Ser Single submitter cardiac rhythm disease ⚠
p.Gly345= Single submitter Cardiovascular phenotype
p.Gly35Ser Single submitter SCN5A-related disorder ⚠
p.Gly579Arg Single submitter Brugada syndrome 1 ⚠
p.Gly584Arg Single submitter cardiac rhythm disease ⚠
p.Gly615Glu Single submitter cardiac rhythm disease ⚠
p.Gly639Arg Single submitter Cardiovascular phenotype ⚠
p.Gly833Arg Single submitter cardiac rhythm disease ⚠
p.Gly926Asp Single submitter Brugada syndrome 1 ⚠
p.His1996Arg Single submitter Cardiovascular phenotype ⚠
p.His585= Single submitter cardiac rhythm disease
p.His588Asn Single submitter Cardiovascular phenotype ⚠
p.His886Pro Single submitter cardiac rhythm disease ⚠
p.Ile1211del Single submitter Cardiovascular phenotype
p.Ile1333Val Single submitter SCN5A-related disorder ⚠
p.Ile1465Thr Single submitter Brugada syndrome 1 ⚠
p.Ile1465Val Single submitter ⚠
p.Ile1556= Single submitter cardiac rhythm disease
p.Ile1636= Single submitter cardiac rhythm disease
p.Ile1659Val Single submitter dilated cardiomyopathy 1E ⚠
p.Ile1757del Single submitter Cardiovascular phenotype
p.Ile1761= Single submitter cardiac rhythm disease
p.Ile1761Met Single submitter cardiac rhythm disease ⚠
p.Ile1832Met Single submitter Cardiovascular phenotype ⚠
p.Ile1835Thr Single submitter Cardiovascular phenotype ⚠
p.Ile1967Met Single submitter cardiac rhythm disease ⚠
p.Ile1967Val Single submitter cardiac rhythm disease ⚠
p.Ile230Thr Single submitter cardiac rhythm disease ⚠
p.Ile230Val Single submitter SCN5A-related disorder ⚠
p.Ile239= Single submitter Cardiovascular phenotype
p.Ile267= Single submitter cardiac rhythm disease
p.Ile424Met Single submitter Cardiovascular phenotype ⚠
p.Ile727= Single submitter Cardiovascular phenotype
p.Leu1216Arg Single submitter ⚠
p.Leu1290= Single submitter cardiac rhythm disease
p.Leu1338= Single submitter Cardiovascular phenotype
p.Leu1338del Single submitter Brugada syndrome 1
p.Leu1411Phe Single submitter Cardiovascular phenotype ⚠
p.Leu1500Val Single submitter Cardiovascular phenotype ⚠
p.Leu1785Pro Single submitter long QT syndrome 3 ⚠
p.Leu1895fs Single submitter Brugada syndrome ⚠
p.Leu1987Arg Single submitter cardiac rhythm disease ⚠
p.Leu2000= Single submitter Cardiovascular phenotype
p.Leu227Pro Single submitter Cardiovascular phenotype ⚠
p.Leu561= Single submitter Cardiovascular phenotype
p.Leu567Gln Single submitter atrial fibrillation, familial, 10 ⚠
p.Leu604= Single submitter cardiac rhythm disease
p.Leu793= Single submitter Cardiovascular phenotype
p.Lys1188= Single submitter cardiac rhythm disease
p.Lys1476Thr Single submitter SCN5A-related disorder ⚠
p.Lys1492Arg Single submitter cardiac rhythm disease ⚠
p.Met1244Ile Single submitter Cardiovascular phenotype ⚠
p.Met1445Ile Single submitter Cardiovascular phenotype ⚠
p.Met1497Thr Single submitter Cardiovascular phenotype ⚠
p.Met1497Val Single submitter SCN5A-related disorder ⚠
p.Met1675Val Single submitter cardiac rhythm disease ⚠
p.Met1765Lys Single submitter sick sinus syndrome 1 ⚠
p.Met1765Val Single submitter Cardiovascular phenotype ⚠
p.Met1792Lys Single submitter Cardiovascular phenotype ⚠
p.Met1874dup Single submitter sick sinus syndrome 1
p.Met1Leu Single submitter Cardiovascular phenotype ⚠
p.Met520Val Single submitter cardiac rhythm disease ⚠
p.Met764Thr Single submitter cardiac rhythm disease ⚠
p.Phe1212= Single submitter cardiac rhythm disease
p.Phe1292Ser Single submitter Brugada syndrome
p.Phe1343Leu Single submitter Cardiovascular phenotype ⚠
p.Phe1472Leu Single submitter ⚠
p.Phe1595Ile Single submitter cardiomyopathy ⚠
p.Phe1751del Single submitter Brugada syndrome 1
p.Phe2003Leu Single submitter Cardiovascular phenotype ⚠
p.Phe2003Ser Single submitter cardiac rhythm disease ⚠
p.Phe2003Val Single submitter cardiac rhythm disease ⚠
p.Phe393del Single submitter SCN5A-related disorder
p.Phe532Cys Single submitter cardiac rhythm disease ⚠
p.Pro1154Ser Single submitter Brugada syndrome 1 ⚠
p.Pro1505Ser Single submitter Brugada syndrome 1 ⚠
p.Pro1883Leu Single submitter cardiac rhythm disease ⚠
p.Pro1941fs Single submitter Brugada syndrome ⚠
p.Pro1961Leu Single submitter cardiac rhythm disease ⚠
p.Pro2004Leu Single submitter Cardiovascular phenotype ⚠
p.Pro2005Ala Single submitter cardiomyopathy ⚠
p.Pro336= Single submitter cardiac rhythm disease
p.Pro336Leu Single submitter cardiac rhythm disease ⚠
p.Pro348= Single submitter cardiac rhythm disease
p.Pro648Leu Single submitter cardiac rhythm disease ⚠
p.Pro701Leu Single submitter cardiac rhythm disease ⚠
p.Pro717= Single submitter Brugada syndrome 1
p.Ser131= Single submitter Cardiovascular phenotype
p.Ser1502= Single submitter cardiac rhythm disease
p.Ser1608= Single submitter ventricular fibrillation, paroxysmal familial, type 1
p.Ser1737Phe Single submitter cardiac rhythm disease
p.Ser1786Asn Single submitter cardiac rhythm disease ⚠
p.Ser1811= Single submitter Cardiovascular phenotype
p.Ser1903Leu Single submitter cardiac rhythm disease ⚠
p.Ser1952Asn Single submitter Cardiovascular phenotype ⚠
p.Ser1965Cys Single submitter cardiac conduction defect ⚠
p.Ser216Leu Single submitter ventricular tachycardia ⚠
p.Ser234= Single submitter Cardiovascular phenotype
p.Ser384= Single submitter cardiac rhythm disease
p.Ser42Asn Single submitter Cardiovascular phenotype ⚠
p.Ser497= Single submitter Cardiovascular phenotype

Benign 68

c.1140+98G>A Multiple submitters
c.1141-141C>G Multiple submitters
c.1339-24G>A Multiple submitters
c.1519-178T>C Multiple submitters
c.2263-18T>C Multiple submitters dilated cardiomyopathy
c.2437-97T>C Multiple submitters
c.273+51G>A Multiple submitters
c.274-24C>T Multiple submitters
c.274-25G>A Multiple submitters
c.3508+72T>C Multiple submitters
c.392+242T>C Multiple submitters
c.392+328G>A Multiple submitters
c.392+34C>A Multiple submitters
c.3960+105G>A Multiple submitters
c.4242+82A>G Multiple submitters
c.4243-181T>C Multiple submitters
c.4296+116G>A Multiple submitters
c.4296+263G>A Multiple submitters
c.4434+65G>A Multiple submitters
c.4435-307T>C Multiple submitters
c.4435-94T>C Multiple submitters
c.4539+86A>G Multiple submitters
c.482+16G>C Multiple submitters Cardiovascular phenotype
c.482+184G>A Multiple submitters
c.612-318G>A Multiple submitters
c.703+45C>A Multiple submitters
c.-52-140G>A Multiple submitters
c.1339-226G>A Single submitter
c.1518+221G>A Single submitter
c.2436+230G>T Single submitter
c.2436+249T>C Single submitter
c.2437-127dup Single submitter
c.2437-128_2437-127dup Single submitter
c.2437-293T>C Single submitter
c.274-25_274-24delinsAT Single submitter Brugada syndrome
c.2787+13_2787+17del Single submitter
c.2787+17_2787+18insACACACACACACACACACACACA Single submitter
c.2787+175del Single submitter
c.2787+254A>G Single submitter
c.3509-184T>C Single submitter
c.3663+1472G>A Single submitter
c.393-184A>C Single submitter
c.4243-262C>T Single submitter
c.4296+323C>T Single submitter
c.4297-266G>A Single submitter
c.4539+293A>G Single submitter
c.4539+339A>C Single submitter
c.4810+164C>G Single submitter
c.4810+215T>C Single submitter
c.4810+23C>T Single submitter
c.4810+262A>C Single submitter
c.4811-89_4811-86dup Single submitter
c.4811-89_4811-87dup Single submitter
c.4811-89_4811-88dup Single submitter
c.4811-894A>G Single submitter
c.4811-89dup Single submitter
c.483-18C>T Single submitter
c.612-2574T>A Single submitter
c.612-708T>G Single submitter
c.703+263C>T Single submitter
c.704-10C>T Single submitter
c.934+283del Single submitter
c.935-199T>G Single submitter
c.935-219A>G Single submitter
c.935-267G>C Single submitter
c.-53+114C>T Single submitter
c.*1453dup Single submitter
c.4296+28C>T No assertion criteria

Benign/Likely benign 107

c.1141-3C>A Multiple submitters cardiac rhythm disease
c.1338+20G>A Multiple submitters
c.2787+17C>A Multiple submitters
c.3388-15C>T Multiple submitters cardiac rhythm disease
c.3388-16A>T Multiple submitters
c.3508+10C>T Multiple submitters congenital heart disease
c.3508+11G>A Multiple submitters
c.3508+12G>A Multiple submitters
c.3663+10T>C Multiple submitters
c.3837+17G>A Multiple submitters
c.3837+8T>C Multiple submitters
c.4434+13C>T Multiple submitters ventricular fibrillation, paroxysmal familial, type 1
c.4435-13C>T Multiple submitters cardiac rhythm disease
c.*1164G>T Multiple submitters ventricular fibrillation, paroxysmal familial, type 1
c.*1165C>T Multiple submitters ventricular fibrillation, paroxysmal familial, type 1
c.*123A>G Multiple submitters ventricular fibrillation, paroxysmal familial, type 1
c.*1496T>G Multiple submitters ventricular fibrillation, paroxysmal familial, type 1
c.*1537T>C Multiple submitters ventricular fibrillation, paroxysmal familial, type 1
c.*159C>T Multiple submitters ventricular fibrillation, paroxysmal familial, type 1
c.*1G>A Multiple submitters cardiac rhythm disease
c.*614G>A Multiple submitters dilated cardiomyopathy 1E
c.*753C>T Multiple submitters ventricular fibrillation, paroxysmal familial, type 1
c.*962T>A Multiple submitters ventricular fibrillation, paroxysmal familial, type 1
c.*963C>T Multiple submitters ventricular fibrillation, paroxysmal familial, type 1
p.Ala1179= Multiple submitters Cardiovascular phenotype
p.Ala1269= Multiple submitters cardiac rhythm disease
p.Ala1293= Multiple submitters cardiac rhythm disease
p.Ala185Thr Multiple submitters Brugada syndrome 1
p.Ala1931= Multiple submitters cardiac rhythm disease
p.Ala265= Multiple submitters cardiac rhythm disease
p.Ala286= Multiple submitters Cardiovascular phenotype
p.Ala286Ser Multiple submitters cardiac rhythm disease
p.Ala29= Multiple submitters cardiac rhythm disease
p.Ala572Asp Multiple submitters dilated cardiomyopathy 1E
p.Arg1192Gln Multiple submitters Cardiovascular phenotype
p.Arg1361= Multiple submitters cardiac rhythm disease
p.Arg14= Multiple submitters cardiac rhythm disease
p.Arg1511= Multiple submitters Cardiovascular phenotype
p.Arg34Cys Multiple submitters cardiac rhythm disease
p.Arg493= Multiple submitters cardiac rhythm disease
p.Arg523= Multiple submitters Cardiovascular phenotype
p.Asn1400= Multiple submitters Cardiovascular phenotype
p.Asn318= Multiple submitters Cardiovascular phenotype
p.Asp152= Multiple submitters Cardiovascular phenotype
p.Asp1818= Multiple submitters Cardiovascular phenotype
p.Asp356= Multiple submitters Cardiovascular phenotype
p.Asp546= Multiple submitters Cardiovascular phenotype
p.Cys1727= Multiple submitters cardiac rhythm disease
p.Glu1061= Multiple submitters cardiac rhythm disease
p.Glu1317= Multiple submitters Cardiovascular phenotype
p.Glu295= Multiple submitters cardiac rhythm disease
p.Gly1351= Multiple submitters Cardiovascular phenotype
p.Gly1357= Multiple submitters Cardiovascular phenotype
p.Gly607= Multiple submitters cardiac rhythm disease
p.His118= Multiple submitters cardiac rhythm disease
p.His151= Multiple submitters Cardiovascular phenotype
p.His184= Multiple submitters Cardiovascular phenotype
p.His350= Multiple submitters cardiac rhythm disease
p.His445= Multiple submitters cardiac rhythm disease
p.His558Arg Multiple submitters Cardiovascular phenotype
p.Ile120= Multiple submitters cardiac rhythm disease
p.Ile1277= Multiple submitters Cardiovascular phenotype
p.Ile1629= Multiple submitters Cardiovascular phenotype
p.Ile1687= Multiple submitters cardiac rhythm disease
p.Ile1767= Multiple submitters Cardiovascular phenotype
p.Ile1947= Multiple submitters cardiac rhythm disease
p.Ile529= Multiple submitters cardiac rhythm disease
p.Leu1156= Multiple submitters Cardiovascular phenotype
p.Leu1307Phe Multiple submitters Brugada syndrome 1
p.Leu1392= Multiple submitters Cardiovascular phenotype
p.Leu399= Multiple submitters cardiac rhythm disease
p.Leu461Val Multiple submitters cardiac rhythm disease
p.Leu618Phe Multiple submitters Brugada syndrome 1 ⚠
p.Leu690= Multiple submitters Cardiovascular phenotype
p.Phe1206= Multiple submitters cardiac rhythm disease
p.Phe1595= Multiple submitters Cardiovascular phenotype
p.Phe1615= Multiple submitters cardiac rhythm disease
p.Phe355= Multiple submitters cardiac rhythm disease
p.Phe434= Multiple submitters cardiac rhythm disease
p.Pro119= Multiple submitters Cardiovascular phenotype
p.Pro614= Multiple submitters Cardiovascular phenotype
p.Pro656Leu Multiple submitters cardiac rhythm disease ⚠
p.Pro7= Multiple submitters cardiac rhythm disease
p.Pro701= Multiple submitters Cardiovascular phenotype
p.Ser1903= Multiple submitters Cardiovascular phenotype
p.Ser1924= Multiple submitters Cardiovascular phenotype
p.Ser1933= Multiple submitters cardiac rhythm disease
p.Ser216= Multiple submitters cardiac rhythm disease
p.Ser524Tyr Multiple submitters Cardiovascular phenotype
p.Ser581= Multiple submitters cardiac rhythm disease
p.Thr1303= Multiple submitters Cardiovascular phenotype
p.Thr229= Multiple submitters Cardiovascular phenotype
p.Thr370= Multiple submitters Cardiovascular phenotype
p.Thr427= Multiple submitters cardiac rhythm disease
p.Tyr1433= Multiple submitters Cardiovascular phenotype
p.Tyr1888= Multiple submitters Cardiovascular phenotype
p.Tyr339= Multiple submitters Cardiovascular phenotype
p.Val125Leu Multiple submitters Cardiovascular phenotype
p.Val300= Multiple submitters Cardiovascular phenotype
p.Val396= Multiple submitters Cardiovascular phenotype
p.Val412= Multiple submitters cardiac rhythm disease
p.Val751= Multiple submitters cardiac rhythm disease
c.*1284G>A Single submitter dilated cardiomyopathy 1E
c.*1390A>G Single submitter ventricular fibrillation, paroxysmal familial, type 1
c.*1884G>A Single submitter dilated cardiomyopathy 1E
c.2787+19AC[12] No assertion criteria
c.2787+19AC[13] No assertion criteria

Likely benign 1131

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

c.1141-14C>T Multiple submitters cardiac rhythm disease
c.1141-205C>T Multiple submitters
c.1141-7C>G Multiple submitters cardiac rhythm disease
c.1141-7C>T Multiple submitters cardiac rhythm disease
c.1141-9C>G Multiple submitters cardiac rhythm disease
c.1338+18C>T Multiple submitters
c.1338+7G>A Multiple submitters
c.1339-13C>T Multiple submitters cardiac rhythm disease
c.1339-14C>T Multiple submitters cardiac rhythm disease
c.1339-20G>A Multiple submitters
c.1519-11C>T Multiple submitters cardiac rhythm disease
c.1519-13C>T Multiple submitters cardiac rhythm disease
c.1519-15T>C Multiple submitters cardiac rhythm disease
c.1519-225G>C Multiple submitters
c.1519-6C>T Multiple submitters cardiac rhythm disease
c.1890+50C>T Multiple submitters
c.1891-13T>C Multiple submitters cardiac rhythm disease
c.1891-20A>G Multiple submitters
c.1891-5C>T Multiple submitters cardiac rhythm disease
c.1891-8G>C Multiple submitters cardiac rhythm disease
c.2024-5C>T Multiple submitters cardiac rhythm disease
c.2263-12C>T Multiple submitters cardiac rhythm disease
c.2263-13G>T Multiple submitters cardiac rhythm disease
c.274-10C>T Multiple submitters cardiac rhythm disease
c.274-4C>T Multiple submitters cardiac rhythm disease
c.274-6C>T Multiple submitters cardiac rhythm disease
c.3388-13C>A Multiple submitters cardiac rhythm disease
c.3388-4A>G Multiple submitters Cardiovascular phenotype
c.3508+14C>A Multiple submitters
c.3509-11C>G Multiple submitters
c.3509-13C>T Multiple submitters cardiac rhythm disease
c.3509-8T>C Multiple submitters cardiac rhythm disease
c.3509-9C>T Multiple submitters cardiac rhythm disease
c.3664-9T>C Multiple submitters cardiac rhythm disease
c.3960+17C>T Multiple submitters
c.3961-12T>C Multiple submitters cardiac rhythm disease
c.3961-18C>T Multiple submitters
c.4242+19G>C Multiple submitters
c.4243-156A>T Multiple submitters
c.4243-4C>T Multiple submitters Cardiovascular phenotype
c.4296+9C>A Multiple submitters Brugada syndrome
c.4297-9C>G Multiple submitters cardiac rhythm disease
c.4297-9C>T Multiple submitters cardiac rhythm disease
c.4434+17C>T Multiple submitters
c.4435-10C>T Multiple submitters cardiac rhythm disease
c.4435-17G>A Multiple submitters
c.4435-17G>T Multiple submitters
c.4539+16G>C Multiple submitters
c.4540-10C>T Multiple submitters cardiac rhythm disease
c.4540-12C>T Multiple submitters cardiac rhythm disease
c.4540-14G>C Multiple submitters cardiac rhythm disease
c.4540-7C>T Multiple submitters cardiac rhythm disease
c.4811-16dup Multiple submitters cardiac rhythm disease
c.4811-20G>C Multiple submitters
c.482+10T>G Multiple submitters
c.483-10T>C Multiple submitters cardiac rhythm disease
c.483-15G>T Multiple submitters cardiac rhythm disease
c.483-17C>T Multiple submitters
c.483-9C>T Multiple submitters cardiac rhythm disease
c.611+16G>A Multiple submitters
c.611+19A>G Multiple submitters
c.612-20G>A Multiple submitters
c.612-426A>T Multiple submitters
c.612-9T>A Multiple submitters cardiac rhythm disease
c.703+10A>G Multiple submitters
c.703+11G>A Multiple submitters
c.704-14C>A Multiple submitters cardiac rhythm disease
c.704-18T>C Multiple submitters
c.704-9C>T Multiple submitters cardiac rhythm disease
c.935-13G>A Multiple submitters cardiac rhythm disease
c.935-46C>G Multiple submitters
c.935-4A>G Multiple submitters cardiac rhythm disease
c.998+107G>A Multiple submitters
c.999-10G>A Multiple submitters cardiac rhythm disease
c.999-16_999-15del Multiple submitters cardiac rhythm disease
c.999-6C>A Multiple submitters cardiac rhythm disease
c.*6G>A Multiple submitters cardiac rhythm disease
p.Ala107= Multiple submitters Cardiovascular phenotype
p.Ala1220= Multiple submitters cardiac rhythm disease
p.Ala123= Multiple submitters cardiac rhythm disease
p.Ala1496= Multiple submitters cardiac rhythm disease
p.Ala1639= Multiple submitters cardiac rhythm disease
p.Ala1655= Multiple submitters Cardiovascular phenotype
p.Ala166Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala1679= Multiple submitters Cardiovascular phenotype
p.Ala1710= Multiple submitters Cardiovascular phenotype
p.Ala185= Multiple submitters Cardiovascular phenotype
p.Ala1881= Multiple submitters Cardiovascular phenotype
p.Ala1904= Multiple submitters cardiac rhythm disease
p.Ala1910= Multiple submitters cardiac rhythm disease
p.Ala226= Multiple submitters cardiac rhythm disease
p.Ala242= Multiple submitters Cardiovascular phenotype
p.Ala33= Multiple submitters cardiac rhythm disease
p.Ala344= Multiple submitters Cardiovascular phenotype
p.Ala361= Multiple submitters Cardiovascular phenotype
p.Ala447= Multiple submitters cardiac rhythm disease
p.Ala551= Multiple submitters cardiac rhythm disease
p.Ala572= Multiple submitters cardiac rhythm disease
p.Ala735= Multiple submitters cardiac rhythm disease
p.Arg1192= Multiple submitters cardiac rhythm disease
p.Arg1582= Multiple submitters cardiac rhythm disease
p.Arg1628= Multiple submitters Cardiovascular phenotype
p.Arg1643= Multiple submitters cardiac rhythm disease
p.Arg18= Multiple submitters Brugada syndrome
p.Arg1825= Multiple submitters Cardiovascular phenotype
p.Arg1846= Multiple submitters cardiac rhythm disease
p.Arg1897= Multiple submitters cardiac rhythm disease
p.Arg1913= Multiple submitters Cardiovascular phenotype
p.Arg2009= Multiple submitters cardiac rhythm disease
p.Arg219= Multiple submitters Cardiovascular phenotype
p.Arg282= Multiple submitters cardiac rhythm disease
p.Arg34= Multiple submitters Cardiovascular phenotype
p.Arg376= Multiple submitters cardiac rhythm disease
p.Arg433= Multiple submitters cardiac rhythm disease
p.Arg474= Multiple submitters Cardiovascular phenotype
p.Arg513= Multiple submitters Cardiovascular phenotype
p.Arg526= Multiple submitters Cardiovascular phenotype
p.Arg569= Multiple submitters Cardiovascular phenotype
p.Arg620= Multiple submitters cardiac rhythm disease
p.Asn109= Multiple submitters Cardiovascular phenotype
p.Asn1145= Multiple submitters cardiac rhythm disease
p.Asn1268= Multiple submitters
p.Asn134= Multiple submitters Cardiovascular phenotype
p.Asn1403= Multiple submitters cardiac rhythm disease
p.Asn1473= Multiple submitters cardiac rhythm disease
p.Asn1563= Multiple submitters Cardiovascular phenotype
p.Asn1735= Multiple submitters cardiac rhythm disease
p.Asn1954= Multiple submitters Cardiovascular phenotype
p.Asn283= Multiple submitters cardiac rhythm disease
p.Asn288= Multiple submitters Cardiovascular phenotype
p.Asn291= Multiple submitters Cardiovascular phenotype
p.Asn406= Multiple submitters
p.Asn470= Multiple submitters cardiac rhythm disease
p.Asn592= Multiple submitters Cardiovascular phenotype
p.Asn730= Multiple submitters cardiac rhythm disease
p.Asn753= Multiple submitters Cardiovascular phenotype
p.Asn782= Multiple submitters cardiac rhythm disease
p.Asn927= Multiple submitters
p.Asn97= Multiple submitters Cardiovascular phenotype
p.Asp1165= Multiple submitters cardiac rhythm disease
p.Asp1181= Multiple submitters Cardiovascular phenotype
p.Asp1422= Multiple submitters cardiac rhythm disease
p.Asp1483= Multiple submitters Cardiovascular phenotype
p.Asp1530= Multiple submitters Cardiovascular phenotype
p.Asp1688= Multiple submitters cardiac rhythm disease
p.Asp1713= Multiple submitters Cardiovascular phenotype
p.Asp1851= Multiple submitters cardiac rhythm disease
p.Asp191= Multiple submitters cardiac rhythm disease
p.Asp1999= Multiple submitters Cardiovascular phenotype
p.Asp252= Multiple submitters
p.Asp297= Multiple submitters Cardiovascular phenotype
p.Asp305= Multiple submitters cardiac rhythm disease
p.Asp331= Multiple submitters Cardiovascular phenotype
p.Asp349= Multiple submitters cardiac rhythm disease
p.Asp501= Multiple submitters cardiac rhythm disease
p.Asp720= Multiple submitters Cardiovascular phenotype
p.Asp84= Multiple submitters Cardiovascular phenotype
p.Asp872= Multiple submitters cardiac rhythm disease
p.Asp883= Multiple submitters cardiac rhythm disease
p.Cys1178= Multiple submitters Brugada syndrome
p.Cys1362= Multiple submitters Cardiovascular phenotype
p.Cys139= Multiple submitters cardiac rhythm disease
p.Cys1538= Multiple submitters cardiac rhythm disease
p.Cys1741= Multiple submitters cardiac rhythm disease
p.Cys280= Multiple submitters Cardiovascular phenotype
p.Cys335= Multiple submitters Cardiovascular phenotype
p.Cys915= Multiple submitters Cardiovascular phenotype
p.Gln1474= Multiple submitters
p.Gln750= Multiple submitters cardiac rhythm disease
p.Gln778= Multiple submitters cardiac rhythm disease
p.Gln90= Multiple submitters Cardiovascular phenotype
p.Glu1164= Multiple submitters cardiac rhythm disease
p.Glu1435= Multiple submitters Cardiovascular phenotype
p.Glu1547= Multiple submitters cardiac rhythm disease
p.Glu1573= Multiple submitters cardiac rhythm disease
p.Glu1780= Multiple submitters cardiac rhythm disease
p.Glu1798= Multiple submitters Cardiovascular phenotype
p.Glu417= Multiple submitters cardiac rhythm disease
p.Glu429= Multiple submitters cardiac rhythm disease
p.Glu436= Multiple submitters Cardiovascular phenotype
p.Glu48= Multiple submitters cardiac rhythm disease
p.Glu49= Multiple submitters Cardiovascular phenotype
p.Glu500= Multiple submitters Cardiovascular phenotype
p.Glu540= Multiple submitters cardiac rhythm disease
p.Glu553= Multiple submitters Cardiovascular phenotype
p.Glu635= Multiple submitters cardiac rhythm disease
p.Glu737= Multiple submitters Cardiovascular phenotype
p.Glu74= Multiple submitters Cardiovascular phenotype
p.Glu898= Multiple submitters long QT syndrome 3
p.Glu901= Multiple submitters Cardiovascular phenotype
p.Glu908= Multiple submitters cardiac rhythm disease
p.Gly1261= Multiple submitters cardiac rhythm disease
p.Gly1291= Multiple submitters cardiac rhythm disease
p.Gly1296= Multiple submitters Cardiovascular phenotype
p.Gly1328= Multiple submitters Cardiovascular phenotype
p.Gly1405= Multiple submitters Cardiovascular phenotype
p.Gly1481= Multiple submitters cardiac rhythm disease
p.Gly1630= Multiple submitters cardiac rhythm disease
p.Gly1641= Multiple submitters Cardiovascular phenotype
p.Gly1714= Multiple submitters cardiac rhythm disease
p.Gly1736= Multiple submitters cardiac rhythm disease
p.Gly213= Multiple submitters cardiac rhythm disease
p.Gly235= Multiple submitters cardiac rhythm disease
p.Gly241= Multiple submitters cardiac rhythm disease
p.Gly292= Multiple submitters Cardiovascular phenotype
p.Gly400= Multiple submitters Cardiovascular phenotype
p.Gly527= Multiple submitters Cardiovascular phenotype
p.Gly584= Multiple submitters cardiac rhythm disease
p.Gly638= Multiple submitters cardiac rhythm disease
p.Gly639= Multiple submitters cardiac rhythm disease
p.Gly840= Multiple submitters Brugada syndrome 1
p.Gly911= Multiple submitters cardiac rhythm disease
p.His130= Multiple submitters cardiac rhythm disease
p.His1899= Multiple submitters Cardiovascular phenotype
p.His588= Multiple submitters Cardiovascular phenotype
p.His617= Multiple submitters Cardiovascular phenotype
p.His880= Multiple submitters cardiac rhythm disease
p.Ile102= Multiple submitters cardiac rhythm disease
p.Ile1200= Multiple submitters Cardiovascular phenotype
p.Ile1210= Multiple submitters cardiac rhythm disease
p.Ile1333= Multiple submitters Cardiovascular phenotype
p.Ile1454= Multiple submitters Cardiovascular phenotype
p.Ile1575= Multiple submitters cardiac rhythm disease
p.Ile1602= Multiple submitters Cardiovascular phenotype
p.Ile1632= Multiple submitters
p.Ile1642= Multiple submitters cardiac rhythm disease
p.Ile1659= Multiple submitters Cardiovascular phenotype
p.Ile1706= Multiple submitters Cardiovascular phenotype
p.Ile1769= Multiple submitters cardiac rhythm disease
p.Ile1808= Multiple submitters Cardiovascular phenotype
p.Ile1826= Multiple submitters Cardiovascular phenotype
p.Ile1852= Multiple submitters Cardiovascular phenotype
p.Ile1891= Multiple submitters Cardiovascular phenotype
p.Ile2014= Multiple submitters Cardiovascular phenotype
p.Ile24= Multiple submitters cardiac rhythm disease
p.Ile244= Multiple submitters cardiac rhythm disease
p.Ile391= Multiple submitters cardiac rhythm disease
p.Ile424= Multiple submitters Cardiovascular phenotype
p.Ile450= Multiple submitters cardiac rhythm disease
p.Ile706= Multiple submitters cardiac rhythm disease
p.Ile76= Multiple submitters cardiac rhythm disease
p.Ile787= Multiple submitters cardiac rhythm disease
p.Ile832= Multiple submitters Cardiovascular phenotype
p.Ile849= Multiple submitters cardiac rhythm disease
p.Ile900= Multiple submitters Cardiovascular phenotype
p.Ile94= Multiple submitters cardiac rhythm disease
p.Leu111= Multiple submitters Cardiovascular phenotype
p.Leu1215= Multiple submitters cardiac rhythm disease
p.Leu1255= Multiple submitters cardiac rhythm disease
p.Leu1273= Multiple submitters Cardiovascular phenotype
p.Leu1276= Multiple submitters cardiac rhythm disease
p.Leu1282= Multiple submitters cardiac rhythm disease
p.Leu1285= Multiple submitters cardiac rhythm disease
p.Leu1304= Multiple submitters Cardiovascular phenotype
p.Leu1326= Multiple submitters Cardiovascular phenotype
p.Leu1354= Multiple submitters Cardiovascular phenotype
p.Leu136= Multiple submitters cardiac rhythm disease
p.Leu1500= Multiple submitters Cardiovascular phenotype
p.Leu1559= Multiple submitters cardiac rhythm disease
p.Leu1565= Multiple submitters Cardiovascular phenotype
p.Leu1581= Multiple submitters cardiac rhythm disease
p.Leu1645= Multiple submitters cardiac rhythm disease
p.Leu1665= Multiple submitters Cardiovascular phenotype
p.Leu1771= Multiple submitters cardiac rhythm disease
p.Leu1839= Multiple submitters cardiac rhythm disease
p.Leu1853= Multiple submitters Cardiovascular phenotype
p.Leu1861= Multiple submitters cardiac rhythm disease
p.Leu189= Multiple submitters
p.Leu1926= Multiple submitters cardiac rhythm disease
p.Leu1935= Multiple submitters cardiac rhythm disease
p.Leu227= Multiple submitters cardiac rhythm disease
p.Leu299Met Multiple submitters cardiac rhythm disease
p.Leu325= Multiple submitters Cardiovascular phenotype
p.Leu342= Multiple submitters cardiac rhythm disease
p.Leu365= Multiple submitters cardiac rhythm disease
p.Leu404= Multiple submitters cardiac rhythm disease
p.Leu448= Multiple submitters cardiac rhythm disease
p.Leu64= Multiple submitters Cardiovascular phenotype
p.Leu643= Multiple submitters Cardiovascular phenotype
p.Leu695= Multiple submitters Cardiovascular phenotype
p.Leu702= Multiple submitters cardiac rhythm disease
p.Leu729= Multiple submitters cardiac rhythm disease
p.Leu736= Multiple submitters cardiac rhythm disease
p.Leu749= Multiple submitters cardiac rhythm disease
p.Leu771= Multiple submitters Cardiovascular phenotype
p.Leu80= Multiple submitters cardiac rhythm disease
p.Leu804= Multiple submitters Cardiovascular phenotype
p.Leu844= Multiple submitters Cardiovascular phenotype
p.Leu860= Multiple submitters Cardiovascular phenotype
p.Leu868= Multiple submitters Cardiovascular phenotype
p.Leu889= Multiple submitters cardiac rhythm disease
p.Leu895= Multiple submitters cardiac rhythm disease
p.Leu920= Multiple submitters cardiac rhythm disease
p.Lys1263= Multiple submitters Cardiovascular phenotype
p.Lys1380= Multiple submitters cardiac rhythm disease
p.Lys1498= Multiple submitters Cardiovascular phenotype
p.Lys1503= Multiple submitters Cardiovascular phenotype
p.Lys1504= Multiple submitters
p.Lys1515= Multiple submitters cardiac rhythm disease
p.Lys1799= Multiple submitters Cardiovascular phenotype

Uncertain significance 2071

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

c.1141-4_1141-3delinsTA Multiple submitters Brugada syndrome 1
c.1519-15T>A Multiple submitters cardiac rhythm disease
c.3663+4C>T Multiple submitters Cardiovascular phenotype
c.3837+5G>A Multiple submitters
c.392+6C>A Multiple submitters
c.393-5C>G Multiple submitters
c.3960+4A>G Multiple submitters Cardiovascular phenotype
c.4434+4C>T Multiple submitters Cardiovascular phenotype
c.4435-3C>T Multiple submitters Cardiovascular phenotype
c.611+2_611+3insTT Multiple submitters Cardiovascular phenotype
c.611+3A>G Multiple submitters cardiac rhythm disease
c.934+5G>A Multiple submitters Cardiovascular phenotype
c.998+5G>T Multiple submitters Brugada syndrome 1
c.*204T>C Multiple submitters SUDDEN INFANT DEATH SYNDROME
c.*382T>C Multiple submitters SUDDEN INFANT DEATH SYNDROME
p.Ala110Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala110Val Multiple submitters ⚠
p.Ala1141Val Multiple submitters cardiac rhythm disease ⚠
p.Ala1147Ser Multiple submitters cardiac rhythm disease ⚠
p.Ala1147Thr Multiple submitters cardiac rhythm disease ⚠
p.Ala1179Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala123Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala1356Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala1426Glu Multiple submitters Cardiovascular phenotype ⚠
p.Ala1496Pro Multiple submitters ⚠
p.Ala149Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala1528Asp Multiple submitters cardiac rhythm disease ⚠
p.Ala1580Ser Multiple submitters cardiac rhythm disease ⚠
p.Ala166Asp Multiple submitters Brugada syndrome 1 ⚠
p.Ala1697Thr Multiple submitters cardiac rhythm disease ⚠
p.Ala1745Pro Multiple submitters cardiac rhythm disease
p.Ala1745Val Multiple submitters cardiac rhythm disease ⚠
p.Ala1804Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala1819Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala1827Thr Multiple submitters cardiac rhythm disease ⚠
p.Ala1855Pro Multiple submitters cardiac rhythm disease ⚠
p.Ala185Val Multiple submitters cardiac rhythm disease ⚠
p.Ala1869Asp Multiple submitters Cardiovascular phenotype ⚠
p.Ala1869Thr Multiple submitters cardiac rhythm disease ⚠
p.Ala1869Val Multiple submitters cardiac rhythm disease ⚠
p.Ala1881Val Multiple submitters cardiac rhythm disease ⚠
p.Ala1923Val Multiple submitters cardiac rhythm disease ⚠
p.Ala1931Thr Multiple submitters cardiac rhythm disease ⚠
p.Ala1948Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala1982Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala2001Thr Multiple submitters cardiac rhythm disease ⚠
p.Ala204Thr Multiple submitters Brugada syndrome 1 ⚠
p.Ala217Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala22Val Multiple submitters dilated cardiomyopathy 1E ⚠
p.Ala242Thr Multiple submitters cardiac rhythm disease ⚠
p.Ala251Thr Multiple submitters cardiac rhythm disease ⚠
p.Ala286Pro Multiple submitters cardiac rhythm disease ⚠
p.Ala29Val Multiple submitters cardiac rhythm disease ⚠
p.Ala2Thr Multiple submitters cardiac rhythm disease ⚠
p.Ala332Thr Multiple submitters cardiac rhythm disease ⚠
p.Ala344Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala385Ser Multiple submitters cardiac rhythm disease ⚠
p.Ala385Thr Multiple submitters cardiac rhythm disease ⚠
p.Ala413Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala413Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala422Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala425Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala467Ser Multiple submitters Brugada syndrome 1 ⚠
p.Ala505Thr Multiple submitters cardiac rhythm disease ⚠
p.Ala51Val Multiple submitters cardiac rhythm disease ⚠
p.Ala551Val Multiple submitters cardiac rhythm disease ⚠
p.Ala586Thr Multiple submitters cardiac rhythm disease ⚠
p.Ala606Thr Multiple submitters cardiac rhythm disease ⚠
p.Ala60Pro Multiple submitters cardiac rhythm disease ⚠
p.Ala60Thr Multiple submitters ⚠
p.Ala647Asp Multiple submitters cardiac rhythm disease ⚠
p.Ala647Ser Multiple submitters cardiac rhythm disease ⚠
p.Ala647Val Multiple submitters cardiac rhythm disease ⚠
p.Ala658Ser Multiple submitters cardiac rhythm disease ⚠
p.Ala662Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala735Gly Multiple submitters cardiac rhythm disease ⚠
p.Ala887Val Multiple submitters Cardiovascular phenotype ⚠
p.Arg1023Pro Multiple submitters Cardiovascular phenotype ⚠
p.Arg1027Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg1173Gln Multiple submitters cardiac rhythm disease ⚠
p.Arg1174Cys Multiple submitters cardiac rhythm disease ⚠
p.Arg1174His Multiple submitters ventricular fibrillation, paroxysmal familial, type 1 ⚠
p.Arg1194Cys Multiple submitters cardiac rhythm disease ⚠
p.Arg1194His Multiple submitters cardiac rhythm disease ⚠
p.Arg1231Gln Multiple submitters cardiac rhythm disease ⚠
p.Arg1302Trp Multiple submitters cardiac rhythm disease ⚠
p.Arg1305Gly Multiple submitters ventricular fibrillation, paroxysmal familial, type 1 ⚠
p.Arg1308Cys Multiple submitters cardiac rhythm disease ⚠
p.Arg1308His Multiple submitters Cardiovascular phenotype ⚠
p.Arg1315Gln Multiple submitters cardiac rhythm disease ⚠
p.Arg1315Pro Multiple submitters ⚠
p.Arg1431Ser Multiple submitters Brugada syndrome 1 ⚠
p.Arg14Cys Multiple submitters cardiac rhythm disease ⚠
p.Arg14His Multiple submitters cardiac rhythm disease ⚠
p.Arg1511Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg1511Leu Multiple submitters cardiac rhythm disease ⚠
p.Arg1582His Multiple submitters cardiac rhythm disease ⚠
p.Arg15Met Multiple submitters Cardiovascular phenotype
p.Arg15Thr Multiple submitters cardiac rhythm disease
p.Arg1637Gln Multiple submitters cardiac rhythm disease ⚠
p.Arg1738Gln Multiple submitters cardiac rhythm disease ⚠
p.Arg179Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg179Pro Multiple submitters Cardiovascular phenotype ⚠
p.Arg1825Cys Multiple submitters cardiac rhythm disease ⚠
p.Arg1846Cys Multiple submitters cardiac rhythm disease ⚠
p.Arg1846Gly Multiple submitters ventricular fibrillation, paroxysmal familial, type 1 ⚠
p.Arg1846His Multiple submitters Cardiovascular phenotype ⚠
p.Arg1859Lys Multiple submitters Cardiovascular phenotype ⚠
p.Arg1896Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg1896Trp Multiple submitters cardiac rhythm disease ⚠
p.Arg1897Cys Multiple submitters dilated cardiomyopathy 1E ⚠
p.Arg1909Lys Multiple submitters Cardiovascular phenotype ⚠
p.Arg190Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg190Trp Multiple submitters cardiac rhythm disease ⚠
p.Arg1912His Multiple submitters Cardiovascular phenotype ⚠
p.Arg1918Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg1918His Multiple submitters cardiac rhythm disease ⚠
p.Arg1928Cys Multiple submitters cardiac rhythm disease ⚠
p.Arg1928His Multiple submitters cardiac rhythm disease ⚠
p.Arg1957Leu Multiple submitters cardiac rhythm disease ⚠
p.Arg1957Pro Multiple submitters Cardiovascular phenotype ⚠
p.Arg2011Cys Multiple submitters cardiac rhythm disease ⚠
p.Arg2011His Multiple submitters Cardiovascular phenotype ⚠
p.Arg27Cys Multiple submitters cardiac rhythm disease ⚠
p.Arg340Trp Multiple submitters cardiac rhythm disease ⚠
p.Arg34His Multiple submitters cardiac rhythm disease ⚠
p.Arg433Cys Multiple submitters SCN5A-related disorder ⚠
p.Arg433His Multiple submitters Cardiovascular phenotype ⚠
p.Arg475Ser Multiple submitters cardiac rhythm disease ⚠
p.Arg481Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg493Lys Multiple submitters cardiac rhythm disease ⚠
p.Arg513Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg513Pro Multiple submitters cardiac rhythm disease ⚠
p.Arg517Lys Multiple submitters Cardiovascular phenotype ⚠
p.Arg517Ser Multiple submitters cardiac rhythm disease ⚠
p.Arg523His Multiple submitters Cardiovascular phenotype ⚠
p.Arg523Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg533Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg533Ser Multiple submitters cardiac rhythm disease ⚠
p.Arg535Gln Multiple submitters cardiac rhythm disease ⚠
p.Arg53Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg53Trp Multiple submitters cardiac rhythm disease ⚠
p.Arg568His Multiple submitters Cardiovascular phenotype ⚠
p.Arg569Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg569Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg569Trp Multiple submitters cardiac rhythm disease ⚠
p.Arg620Cys Multiple submitters cardiac rhythm disease ⚠
p.Arg620His Multiple submitters cardiac rhythm disease ⚠
p.Arg620Leu Multiple submitters cardiac rhythm disease ⚠
p.Arg659Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg659Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg661Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg661Trp Multiple submitters cardiac rhythm disease ⚠
p.Arg680Cys Multiple submitters cardiac rhythm disease ⚠
p.Arg689Cys Multiple submitters cardiac rhythm disease ⚠
p.Arg689His Multiple submitters Cardiovascular phenotype ⚠
p.Arg689Pro Multiple submitters cardiac rhythm disease ⚠
p.Arg693Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg693Leu Multiple submitters cardiac rhythm disease ⚠
p.Arg800Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg800His Multiple submitters atrial fibrillation, familial, 10 ⚠
p.Arg800Leu Multiple submitters cardiac rhythm disease ⚠
p.Arg808His Multiple submitters cardiac rhythm disease ⚠
p.Arg8Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg8Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg965Leu Multiple submitters cardiac rhythm disease ⚠
p.Arg988Gln Multiple submitters cardiac rhythm disease ⚠
p.Asn109Lys Multiple submitters cardiac rhythm disease ⚠
p.Asn1353_Leu1354delinsLysIle Multiple submitters sick sinus syndrome 1
p.Asn1353His Multiple submitters ⚠
p.Asn1442Lys Multiple submitters cardiac rhythm disease ⚠
p.Asn144Thr Multiple submitters cardiac rhythm disease ⚠
p.Asn1462Tyr Multiple submitters cardiac rhythm disease ⚠
p.Asn1514Ser Multiple submitters cardiac rhythm disease ⚠
p.Asn1557Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn1591Tyr Multiple submitters Brugada syndrome 1 ⚠
p.Asn1677Ser Multiple submitters cardiac rhythm disease ⚠
p.Asn1721Asp Multiple submitters Brugada syndrome ⚠
p.Asn1733Lys Multiple submitters cardiac rhythm disease ⚠
p.Asn1735Asp Multiple submitters ⚠
p.Asn1764Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn1830His Multiple submitters sick sinus syndrome 1 ⚠
p.Asn1836Lys Multiple submitters cardiac rhythm disease ⚠
p.Asn194Asp Multiple submitters Cardiovascular phenotype ⚠
p.Asn194Lys Multiple submitters Cardiovascular phenotype ⚠
p.Asn1954Thr Multiple submitters cardiac rhythm disease ⚠
p.Asn1986Lys Multiple submitters Cardiovascular phenotype ⚠
p.Asn288Ser Multiple submitters familial long QT syndrome ⚠
p.Asn291His Multiple submitters Cardiovascular phenotype ⚠
p.Asn291Lys Multiple submitters cardiac rhythm disease
p.Asn291Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn3Lys Multiple submitters Cardiovascular phenotype ⚠
p.Asn470Lys Multiple submitters cardiac rhythm disease ⚠
p.Asn592Ser Multiple submitters cardiac rhythm disease ⚠
p.Asn70Lys Multiple submitters cardiac rhythm disease ⚠
p.Asn70Ser Multiple submitters cardiac rhythm disease ⚠
p.Asn834Asp Multiple submitters Cardiovascular phenotype ⚠
p.Asn834Lys Multiple submitters cardiac rhythm disease ⚠
p.Asp1155Gly Multiple submitters cardiac rhythm disease ⚠
p.Asp1162Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp1162Tyr Multiple submitters cardiac rhythm disease ⚠
p.Asp1242Glu Multiple submitters cardiac rhythm disease ⚠
p.Asp1242Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp1369Gly Multiple submitters cardiac rhythm disease ⚠
p.Asp1369Tyr Multiple submitters ⚠
p.Asp1522Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp152Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp152Glu Multiple submitters cardiac rhythm disease ⚠
p.Asp1688Asn Multiple submitters dilated cardiomyopathy 1E ⚠
p.Asp1689del Multiple submitters Cardiovascular phenotype
p.Asp1713Asn Multiple submitters cardiac rhythm disease ⚠
p.Asp1728Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp1740Tyr Multiple submitters cardiac rhythm disease
p.Asp1791Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp1791Val Multiple submitters sick sinus syndrome 1 ⚠
p.Asp1801Glu Multiple submitters cardiac rhythm disease ⚠
p.Asp1939Asn Multiple submitters cardiac rhythm disease ⚠
p.Asp197Asn Multiple submitters cardiac rhythm disease ⚠
p.Asp197Tyr Multiple submitters dilated cardiomyopathy 1E ⚠
p.Asp1985Asn Multiple submitters cardiac rhythm disease ⚠
p.Asp1993His Multiple submitters cardiac rhythm disease ⚠
p.Asp1999His Multiple submitters cardiac rhythm disease ⚠
p.Asp1999Tyr Multiple submitters cardiac rhythm disease ⚠
p.Asp2008Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp2010Gly Multiple submitters cardiac rhythm disease ⚠
p.Asp297Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp297His Multiple submitters Sudden cardiac death ⚠
p.Asp305Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp501Gly Multiple submitters cardiac rhythm disease ⚠
p.Asp536His Multiple submitters cardiac rhythm disease ⚠
p.Asp545Val Multiple submitters ⚠
p.Asp596Glu Multiple submitters
p.Asp608Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp629Tyr Multiple submitters cardiac rhythm disease ⚠
p.Asp651His Multiple submitters cardiac rhythm disease ⚠
p.Asp651Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asp772Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp785Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp82Glu Multiple submitters SCN5A-related disorder ⚠
p.Asp84Asn Multiple submitters Brugada syndrome ⚠
p.Asp883Gly Multiple submitters Cardiovascular phenotype ⚠
p.Cys1166Tyr Multiple submitters long QT syndrome 3 ⚠
p.Cys1175Arg Multiple submitters cardiac rhythm disease ⚠
p.Cys1177Ser Multiple submitters long QT syndrome 3 ⚠
p.Cys1538Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Cys1574Ser Multiple submitters Cardiovascular phenotype ⚠
p.Cys1574Tyr Multiple submitters cardiac rhythm disease ⚠
p.Cys1849Ser Multiple submitters Cardiovascular phenotype ⚠
p.Cys649Arg Multiple submitters Cardiovascular phenotype ⚠
p.Cys649Gly Multiple submitters Cardiovascular phenotype ⚠
p.Cys649Tyr Multiple submitters dilated cardiomyopathy 1E ⚠
p.Cys683Gly Multiple submitters cardiac rhythm disease ⚠
p.Cys683Ser Multiple submitters cardiac rhythm disease ⚠
p.Gln1033Arg Multiple submitters cardiac rhythm disease ⚠
p.Gln1365Arg Multiple submitters cardiac rhythm disease ⚠
p.Gln1438Arg Multiple submitters cardiac rhythm disease ⚠
p.Gln1873His Multiple submitters cardiac rhythm disease ⚠
p.Gln1929Arg Multiple submitters cardiac rhythm disease ⚠
p.Gln1988Ter Multiple submitters cardiac rhythm disease
p.Gln245Lys Multiple submitters cardiac rhythm disease ⚠
p.Gln32Arg Multiple submitters Brugada syndrome ⚠
p.Gln371Arg Multiple submitters dilated cardiomyopathy 1E ⚠
p.Gln380= Multiple submitters cardiac rhythm disease
p.Gln419Pro Multiple submitters ⚠
p.Gln435Arg Multiple submitters cardiac rhythm disease ⚠
p.Gln55Leu Multiple submitters Cardiovascular phenotype ⚠
p.Gln575Glu Multiple submitters cardiac rhythm disease ⚠
p.Gln912Arg Multiple submitters Cardiovascular phenotype ⚠
p.Glu1137Ala Multiple submitters sick sinus syndrome 1 ⚠
p.Glu1137Lys Multiple submitters cardiac rhythm disease ⚠
p.Glu1164Asp Multiple submitters cardiac rhythm disease ⚠
p.Glu1202Ala Multiple submitters cardiac rhythm disease ⚠
p.Glu1207Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu1230Ala Multiple submitters cardiac rhythm disease ⚠
p.Glu1252Gly Multiple submitters cardiac rhythm disease ⚠
p.Glu1294Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu1488Asp Multiple submitters familial long QT syndrome ⚠
p.Glu171Gly Multiple submitters ⚠
p.Glu1779Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu1780Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu1783Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu1803Gln Multiple submitters cardiac rhythm disease ⚠
p.Glu1822Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu1863Asp Multiple submitters cardiac rhythm disease ⚠
p.Glu1863Gly Multiple submitters long QT syndrome 3 ⚠
p.Glu1863Lys Multiple submitters cardiac rhythm disease ⚠
p.Glu1875Val Multiple submitters ventricular fibrillation, paroxysmal familial, type 1 ⚠
p.Glu1876del Multiple submitters cardiac rhythm disease
p.Glu1889Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu1900Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu1900Gly Multiple submitters cardiac rhythm disease ⚠
p.Glu1900Lys Multiple submitters cardiac rhythm disease ⚠
p.Glu1901Gln Multiple submitters cardiac rhythm disease ⚠
p.Glu1937Lys Multiple submitters cardiac rhythm disease ⚠
p.Glu1944fs Multiple submitters cardiac rhythm disease
p.Glu1953Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu2012Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu25Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu295Lys Multiple submitters Brugada syndrome ⚠
p.Glu302Lys Multiple submitters cardiac rhythm disease ⚠