| - GRCh37:
- Chr18:29126328
- GRCh38:
- Chr18:31546365
| DSG2, DSG2-AS1 | Q993H | Sudden cardiac death | Likely pathogenic
(Jul 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2683246
- GRCh38:
- Chr11:2662016
| KCNQ1, KCNQ1OT1 | N483K, N356K, N393K, N451K, N303K | Cardiac arrhythmia, Sudden cardiac death | Uncertain significance
(Jul 14, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:2675661
- GRCh38:
- Chr12:2566495
| CACNA1C | W528G, W525G | Sudden cardiac death, Primary dilated cardiomyopathy | Uncertain significance
(Mar 14, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:237991740
- GRCh38:
- Chr1:237828440
| RYR2 | M4884V | Sudden cardiac death | Uncertain significance
(Feb 9, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:73617346
- GRCh38:
- Chr15:73325005
| HCN4 | L643R | Sudden cardiac death, Sinus bradycardia | Uncertain significance
(Feb 9, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38622784-38622785
- GRCh38:
- Chr3:38581293-38581294
| LOC110121269, SCN5A | E955fs | Sudden cardiac death, Prolonged QT interval, Cardiovascular phenotype,
Cardiac arrhythmia, not provided, Brugada syndrome
| Conflicting interpretations of pathogenicity
(Oct 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:33049598
- GRCh38:
- Chr12:32896664
| PKP2 | G23E | Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype, not specified,
Cardiomyopathy, not provided | Uncertain significance
(Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7575619
- GRCh38:
- Chr6:7575386
| DSP | S843* | Sudden cardiac death, Cardiac arrhythmia, Bicuspid aortic valve,
Ventricular fibrillation, Aortic dilatation | Pathogenic
(Jun 10, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49686146
- GRCh38:
- Chr19:49182889
| TRPM4 | W525*, W171*, W351*, W410* | Progressive familial heart block type IB, Sudden cardiac death, Cardiovascular phenotype,
not provided, not specified | Conflicting interpretations of pathogenicity
(Feb 17, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:49691980
- GRCh38:
- Chr19:49188723
| TRPM4 | A609G, A73G, A255G, A435G, A494G | Sudden cardiac death, Cardiovascular phenotype, Progressive familial heart block type IB
| Uncertain significance
(Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:123504912
- GRCh38:
- Chr11:123634204
| SCN3B | S196C | Sudden cardiac death | Uncertain significance
(Feb 10, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21097584
- GRCh38:
- Chr10:20808655
| NEBL | K872N | Sudden cardiac death | Uncertain significance
(Jan 28, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3116442
- GRCh38:
- Chr18:3116444
| MYOM1 | H1064Y, H968Y | not specified, Sudden cardiac death, Hypertrophic cardiomyopathy,
Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:23888691
- GRCh38:
- Chr14:23419482
| MYH7 | | Cardiomyopathy, Sudden cardiac death | Uncertain significance
(Dec 18, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:154429577
- GRCh38:
- Chr7:154637867
| DPP6 | P161L, P163L, P164L, P225L | Sudden cardiac death | Uncertain significance
(Apr 14, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr12:2794954
- GRCh38:
- Chr12:2685788
| CACNA1C, CACNA1C-AS1 | K1876E, K1911E, K1924E, K1865E, K1873E, K1884E, K1893E, K1896E, K1882E, K1904E, K1959E, K1895E, K1917E, K1936E | Sudden cardiac death | Uncertain significance
(Sep 10, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr15:73616159
- GRCh38:
- Chr15:73323818
| HCN4 | V759I | Cardiovascular phenotype, not specified, Sudden cardiac death,
not provided, Brugada syndrome 8, Sick sinus syndrome 2, autosomal dominant
| Conflicting interpretations of pathogenicity
(Feb 17, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:2602424
- GRCh38:
- Chr12:2493258
| CACNA1C | G329S, G326S | Cardiovascular phenotype, Brugada syndrome 3, Long qt syndrome 8,
Timothy syndrome, Sudden cardiac death, not provided,
Long QT syndrome | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:32188128
- GRCh38:
- Chr3:32146636
| GPD1L | E174K | Cardiovascular phenotype, not specified, Brugada syndrome,
Brugada syndrome 2, not provided | Conflicting interpretations of pathogenicity
(Nov 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:114278947
- GRCh38:
- Chr4:113357791
| ANK2 | R3058H, R1858H, R2980H, R3097H, R3105H | Long QT syndrome, Cardiac arrhythmia, ankyrin-B-related | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91682040
- GRCh38:
- Chr7:92052726
| AKAP9 | V1790G | Congenital long QT syndrome, Cardiovascular phenotype, not provided,
not specified, Long QT syndrome, Long QT syndrome 11
| Conflicting interpretations of pathogenicity
(Jul 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38592825
- GRCh38:
- Chr3:38551334
| SCN5A | A1679T, A1680T, A1626T, A1661T, A1647T, A1662T | Cardiovascular phenotype, Sudden cardiac death, not provided,
Cardiac arrhythmia, not specified, Brugada syndrome
| Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38622706
- GRCh38:
- Chr3:38581215
| LOC110121269, SCN5A | C982R | Primary familial dilated cardiomyopathy, Brugada syndrome, Ventricular fibrillation, paroxysmal familial, type 1,
Sick sinus syndrome 1, Long QT syndrome 3, Brugada syndrome 1,
Cardiovascular phenotype, Dilated cardiomyopathy 1E, Sudden cardiac arrest,
Cardiac arrhythmia, not specifiednot provided,
Progressive familial heart block, type 1A, ...see more | Conflicting interpretations of pathogenicity
(Oct 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:38646357
- GRCh38:
- Chr3:38604866
| SCN5A | L461V | not provided, Cardiovascular phenotype, Ventricular fibrillation, paroxysmal familial, type 1,
Sudden cardiac death, not specified, Dilated cardiomyopathy 1E,
Brugada syndrome 1, Long QT syndrome 3, Cardiac arrhythmia,
Brugada syndrome 1, Progressive familial heart block, type 1AVentricular fibrillation, paroxysmal familial, type 1,
Long QT syndrome 3, Dilated cardiomyopathy 1E, SUDDEN INFANT DEATH SYNDROME,
Atrial fibrillation, familial, 10, Sick sinus syndrome 1, Brugada syndrome,
Progressive familial heart block, type 1A, Sick sinus syndrome 1, ...see more | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:150671867
- GRCh38:
- Chr7:150974779
| KCNH2 | A80V, A21V | Sudden cardiac death | not provided | no assertion provided |
| - GRCh37:
- Chr7:150671946
- GRCh38:
- Chr7:150974858
| KCNH2 | Y54H | Prolonged QT interval, Sudden cardiac death, Long QT syndrome
| Uncertain significance
(Oct 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179571371
- GRCh38:
- Chr2:178706644
| TTN | R9744C, R8500C, R9427C | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, not specified,
not provided, Cardiomyopathy, Early-onset myopathy with fatal cardiomyopathy,
Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Tibial muscular dystrophy, Cardiac arrestSudden cardiac death,
...see more | Conflicting interpretations of pathogenicity
(Aug 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:237730032
- GRCh38:
- Chr1:237566732
| RYR2 | E1127G | Cardiovascular phenotype, not specified, not provided,
Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2,
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Jan 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:201330501
- GRCh38:
- Chr1:201361373
| TNNT2 | | Sudden cardiac death, not specified, Hypertrophic cardiomyopathy 2,
Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3, not provided,
Cardiomyopathy | Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrMT:15923
- GRCh38:
- ChrMT:15923
| MT-TT | | Mitochondrial disease, Infantile onset, Sudden cardiac death,
Failure to thrive, Constipation, Generalized hypotonia,
Neonatal onset, Jaundice | Conflicting interpretations of pathogenicity
(Mar 13, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:23862646
- GRCh38:
- Chr14:23393437
| MYH6 | A1004S | Primary dilated cardiomyopathy, Ventricular tachycardia, not specified,
Sudden cardiac death, Hypertrophic cardiomyopathy 14, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 14, Primary dilated cardiomyopathy,
Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype ...see more | Conflicting interpretations of pathogenicity
(May 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:118880200
- GRCh38:
- Chr6:118559037
| PLN, CEP85L | L39* | Cardiovascular phenotype, Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18,
not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 18,
Dilated cardiomyopathy 1P, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
| Pathogenic/Likely pathogenic
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |