| - GRCh37:
- Chr2:179585126
- GRCh38:
- Chr2:178720399
| TTN | S7471F, S6544F, S7788F | Congestive heart failure | Likely benign
(Mar 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:236914840
- GRCh38:
- Chr1:236751540
| ACTN2 | M576T, M368T | Congestive heart failure, Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
| Conflicting interpretations of pathogenicity
(Mar 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17452385
- GRCh38:
- Chr11:17430838
| ABCC8 | R598Q, R597Q | Hypoglycemia, Macrotia, Growth delay,
Neonatal respiratory distress, Feeding difficulties, Short stature,
Congestive heart failure, Small for gestational age, Macrocephaly,
Cardiac shunt, Gastroesophageal refluxAtrial septal defect,
...see more | Likely pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:75854166
- GRCh38:
- Chr10:74094408
| VCL | I497T | Cardiovascular phenotype, Hypertrophic cardiomyopathy 15, Dilated cardiomyopathy 1W,
Dilated cardiomyopathy 1W, not specified, not provided
| Uncertain significance
(May 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:73624600
- GRCh38:
- Chr15:73332259
| HCN4 | V415M | Brugada syndrome 8, Congestive heart failure, Cardiovascular phenotype,
Sick sinus syndrome 2, autosomal dominant, Epilepsy, idiopathic generalized, susceptibility to, 18, Brugada syndrome 8
| Conflicting interpretations of pathogenicity
(Oct 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:133777763
- GRCh38:
- Chr6:133456625
| EYA4 | A116V, A93V | Cardiovascular phenotype, Ventricular tachycardia, Congestive heart failure,
Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10 | Conflicting interpretations of pathogenicity
(Sep 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:114264160
- GRCh38:
- Chr4:113343004
| ANK2 | | Long QT syndrome, Cardiac arrhythmia, ankyrin-B-related, not provided,
Congestive heart failure | Benign/Likely benign
(Jul 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:237886513
- GRCh38:
- Chr1:237723213
| RYR2 | T3547M | Cardiomyopathy, not provided, Catecholaminergic polymorphic ventricular tachycardia 1,
Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1,
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Congestive heart failure | Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23858255
- GRCh38:
- Chr14:23389046
| MYH6 | A1330T | Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy 14,
Congestive heart failure | Conflicting interpretations of pathogenicity
(Sep 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:114281990
- GRCh38:
- Chr4:113360834
| ANK2 | E1471K, E3565K, E1405K, E1409K, E1418K, E1426K, E1447K, E1506K, E663K, E1380K, E1433K, E1446K, E1458K, E1480K, E1484K, E1352K, E1385K, E1402K, E1414K, E1425K, E1437K, E1459K, E1463K, E1470K, E1492K, E1494K, E656K, E668K, E1393K, E1473K, E1479K, E1495K, E1319K, E1407K, E1422K, E1428K, E1435K, E1475K, E1499K, E2365K, E280K, E3487K, E3604K, E3612K | not provided, Congestive heart failure | Conflicting interpretations of pathogenicity
(Apr 9, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:151478273
- GRCh38:
- Chr7:151781187
| PRKAG2 | P144L, P100L | Cardiovascular phenotype, not specified, not provided,
Cardiomyopathy, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6,
Wolff-Parkinson-White pattern, Congestive heart failure | Uncertain significance
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:2714835
- GRCh38:
- Chr12:2605669
| CACNA1C | | not provided, Congestive heart failure, Long QT syndrome
| Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:179634392
- GRCh38:
- Chr2:178769665
| TTN | | Congestive heart failure, Atrial fibrillation, Ventricular tachycardia,
not specified, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
not provided, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failureDilated cardiomyopathy 1G,
...see more | Conflicting interpretations of pathogenicity
(Oct 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:179425936
- GRCh38:
- Chr2:178561209
| TTN, TTN-AS1 | Q28308P, Q25740P, Q26667P, Q19243P, Q19368P, Q19435P | Cardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
not specified, not provided, Congestive heart failure
| Conflicting interpretations of pathogenicity
(Aug 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:179441932
- GRCh38:
- Chr2:178577205
| TTN, TTN-AS1 | P23044S, P20476S, P21403S, P13979S, P14171S, P14104S | Cardiovascular phenotype, Atrial fibrillation, Hypertrophic cardiomyopathy,
Brugada syndrome, Congestive heart failure, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Dilated cardiomyopathy 1G, not specified, not provided,
Cardiomyopathy, Early-onset myopathy with fatal cardiomyopathyMyopathy, myofibrillar, 9, with early respiratory failure,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
Hypertrophic cardiomyopathy, ...see more | Conflicting interpretations of pathogenicity
(Aug 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:179453429
- GRCh38:
- Chr2:178588702
| TTN, TTN-AS1 | T21008I, T18440I, T19367I, T12135I, T11943I, T12068I | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy,
Congestive heart failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
not provided, not specified, Cardiomyopathy,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failureAutosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G, ...see more | Benign/Likely benign
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111357011
- GRCh38:
- Chr12:110919207
| LOC114827850, MYL2 | | not specified, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy 10 | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111779556
- GRCh38:
- Chr11:111908832
| CRYAB | G154S, G87S | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Congestive heart failure,
Myofibrillar Myopathy, Dominant, not specified, Dilated cardiomyopathy 1II,
not provided, Cardiomyopathy, Fatal infantile hypertonic myofibrillar myopathy,
Cataract 16 multiple types | Conflicting interpretations of pathogenicity
(Jan 4, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17426099
- GRCh38:
- Chr11:17404552
| ABCC8 | V1173M, V1174M, V1172M, V1195M | Atrial septal defect, Growth delay, Feeding difficulties,
Macrocephaly, Short stature, Hypoglycemia,
Small for gestational age, Macrotia, Congestive heart failure,
Cardiac shunt, Gastroesophageal refluxNeonatal respiratory distress,
Transitory neonatal diabetes mellitus, Monogenic diabetes, not specified,
Maturity onset diabetes mellitus in young, Permanent neonatal diabetes mellitus, ...see more | Conflicting interpretations of pathogenicity
(May 4, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:111351030
- GRCh38:
- Chr12:110913226
| MYL2 | | Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, not specified, not provided,
Hypertrophic cardiomyopathy 10, Congestive heart failure | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:111353556
- GRCh38:
- Chr12:110915752
| MYL2 | | Cardiovascular phenotype, not specified, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 10, Congestive heart failure
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |