SCN5A Paralogue Annotation
This page details the annotation of SCN5A with disease causing variants in the following paralogues: SCN9A, SCN1A, CACNA1C, CACNA1F, SCN4A, CACNA1A, CACNA1H, SCN2A, CACNA1S, SCN3A, CACNA1G, SCN8A, SCN10A, CACNA1D, CACNA1E, SCN11A, CACNA1I. Click here to see the multiple sequence alignment of SCN5A with all paralogues.
The paralogue variant mappings to SCN5A are based on the Locus Reference Genomic entry for SCN5A - LRG_289. This is based on the transcript ENST00000333535 and protein ENSP00000328968 (2016 amino acids) for the Ensembl gene ENSG00000183873.
- Paralogue Annotations
- Known SCN5A Variants
- All Variants and Paralogue Annotations
Amino acid residues of SCN5A with known missense variants are shown below, along with details about the SCN5A protein domain and known missense variant status for these residues (the number of published reports for the residue is in parentheses), and any disease-causing paralogue missense variants that have been mapped to the residue, including the consensus from the M-Coffee multiple sequence alignment at this mapping and the disease(s) associated with the paralogue variant(s). Click on the residue to see further details about the known SCN5A variants and the mapped paralogue variants.
| Residue | Domain | Known Variant Status | Consensus | Mapped Paralogues and Variant Disease |
|---|---|---|---|---|
| 1-M | N-terminus | Arrhythmia (1) | ||
| 2-A | N-terminus | Arrhythmia (1) | ||
| 3-N | N-terminus | Prob. Benign (0) | ||
| 7-P | N-terminus | Prob. Benign (0) | ||
| 8-R | N-terminus | Prob. Benign (0) | ||
| 9-G | N-terminus | Arrhythmia (2) | ||
| 10-T | N-terminus | Prob. Benign (0) | ||
| 14-R | N-terminus | Prob. Benign (0) | 3 | SCN10A - Brugada syndrome |
| 15-R | N-terminus | Other Cardiac (1) | ||
| 16-F | N-terminus | Prob. Benign (0) | ||
| 18-R | N-terminus | Arrhythmia (8) | ||
| 20-S | N-terminus | Prob. Benign (0) | ||
| 22-A | N-terminus | Prob. Benign (0) | ||
| 23-A | N-terminus | Prob. Benign (0) | 3 | SCN1A - Dravet syndrome |
| 25-E | N-terminus | Prob. Benign (0) | ||
| 27-R | N-terminus | Arrhythmia (3) | 2 | SCN1A - Generalized epilepsy with febrile seizures plus SCN2A - Autism spectrum disorder |
| 28-M | N-terminus | Prob. Benign (0) | ||
| 29-A | N-terminus | Arrhythmia (1) | ||
| 30-E | N-terminus | Arrhythmia (1) | ||
| 34-R | N-terminus | Conflict (9) | ||
| 35-G | N-terminus | Arrhythmia (4) | ||
| 37-T | N-terminus | Prob. Benign (0) | ||
| 43-R | N-terminus | Arrhythmia (3) | ||
| 48-E | N-terminus | Arrhythmia (1) | 2 | SCN1A - Epilepsy ? |
| 49-E | N-terminus | Prob. Benign (0) | ||
| 51-A | N-terminus | Prob. Benign (0) | ||
| 52-P | N-terminus | Arrhythmia (1) | ||
| 53-R | N-terminus | Arrhythmia (1) | ||
| 62-K | N-terminus | Prob. Benign (0) | ||
| 65-P | N-terminus | Prob. Benign (0) | ||
| 69-G | N-terminus | Prob. Benign (0) | ||
| 70-N | N-terminus | Arrhythmia (2) | ||
| 79-P | N-terminus | Prob. Benign (0) | ||
| 82-D | N-terminus | Prob. Benign (0) | 3 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 84-D | N-terminus | Arrhythmia (1) | 3 | SCN1A - Dravet syndrome |
| 85-P | N-terminus | Prob. Benign (0) | ||
| 86-F | N-terminus | Prob. Benign (0) | ||
| 87-Y | N-terminus | Arrhythmia (1) | 4 | SCN1A - Myoclonic epilepsy of infancy |
| 88-S | N-terminus | Prob. Benign (0) | ||
| 90-Q | N-terminus | None | ||
| 92-T | N-terminus | Prob. Benign (0) | ||
| 93-F | N-terminus | Arrhythmia (2) | 5 | SCN1A - Myoclonic epilepsy of infancy |
| 94-I | N-terminus | Arrhythmia (2) | 5 | SCN1A - Myoclonic epilepsy of infancy |
| 95-V | N-terminus | Arrhythmia (3) | 4 | SCN10A - Atrial fibrillation |
| 101-T | N-terminus | Prob. Benign (0) | 6 | SCN1A - Dravet syndrome C ? |
| 102-I | N-terminus | Arrhythmia (1) | ||
| 104-R | N-terminus | Arrhythmia (8) | 7 | SCN1A - Myoclonic epilepsy of infancy SCN4A - Myopathy, congenital |
| 106-S | N-terminus | Prob. Benign (0) | 8 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 109-N | N-terminus | Arrhythmia (2) | 8 | CACNA1F - Night blindness, congenital stationary 2 SCN1A - Dravet syndrome |
| 110-A | N-terminus | Arrhythmia (3) | ||
| 112-Y | N-terminus | Prob. Benign (0) | ||
| 113-V | N-terminus | Arrhythmia (1) | 9 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 115-S | N-terminus | Arrhythmia (1) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 119-P | N-terminus | Prob. Benign (0) | ||
| 120-I | N-terminus | None | ||
| 121-R | N-terminus | Arrhythmia (7) | 9 | CACNA1F - Congenital stationary night blindness, Night blindness, congenital stationary, incomplete SCN1A - Myoclonic epilepsy of infancy |
| 123-A | N-terminus | Prob. Benign (0) | ||
| 124-A | N-terminus | Arrhythmia (1) | ||
| 125-V | N-terminus | Arrhythmia (4) | 9 | SCN9A - Dravet syndrome |
| 126-K | N-terminus | Arrhythmia (4) | ||
| 135-M | TM Domain 1 | Prob. Benign (0) | ||
| 136-L | TM Domain 1 | Arrhythmia (2) | ||
| 137-I | TM Domain 1 | Prob. Benign (1) | ||
| 138-M | TM Domain 1 | Arrhythmia (2) | 9 | SCN10A - Brugada syndrome SCN2A - Epileptic encephalopathy, early onset |
| 141-I | TM Domain 1 | Other Cardiac (1) | 9 | SCN1A - Dravet syndrome SCN4A - Myotonia SCN9A - Erythermalgia, primary |
| 143-T | TM Domain 1 | Prob. Benign (0) | ||
| 146-V | TM Domain 1 | Arrhythmia (1) | ||
| 149-A | TM Domain 1 | Other Cardiac (1) | ||
| 152-D | TM Domain 1 | Prob. Benign (0) | ||
| 159-Y | TM Domain 1 | Prob. Benign (0) | ||
| 161-E | TM Domain 1 | Arrhythmia (9) | ||
| 162-Y | TM Domain 1 | Prob. Benign (0) | 8 | SCN10A - Atrial fibrillation, early-onset |
| 164-F | TM Domain 1 | Prob. Benign (0) | ||
| 166-A | TM Domain 1 | Prob. Benign (1) | 7 | SCN1A - Dravet syndrome |
| 170-F | TM Domain 1 | Prob. Benign (0) | ||
| 174-V | TM Domain 1 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN2A - Acute encephalopathy with biphasic seizures & late |
| 175-K | TM Domain 1 | Arrhythmia (1) | ||
| 176-I | TM Domain 1 | Arrhythmia (1) | ||
| 178-A | TM Domain 1 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 179-R | TM Domain 1 | Prob. Benign (0) | ||
| 180-G | TM Domain 1 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 182-C | TM Domain 1 | Arrhythmia (1) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 184-H | TM Domain 1 | None | ||
| 185-A | TM Domain 1 | Arrhythmia (3) | ||
| 187-T | TM Domain 1 | Arrhythmia (2) | 9 | CACNA1F - Night blindness, congenital stationary 2 |
| 190-R | TM Domain 1 | Arrhythmia (4) | 9 | SCN2A - Febrile and afebrile seizures SCN9A - Small fibre neuropathy |
| 197-D | TM Domain 1 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 201-I | TM Domain 1 | Prob. Benign (0) | ||
| 204-A | TM Domain 1 | Arrhythmia (1) | 9 | SCN10A - Brugada syndrome |
| 205-Y | TM Domain 1 | Prob. Benign (0) | ||
| 207-T | TM Domain 1 | None | ||
| 212-L | TM Domain 1 | Arrhythmia (4) | ||
| 216-S | TM Domain 1 | Conflict (15) | 9 | CACNA1A - Episodic ataxia 2, Hemiplegic migraine and episodic ataxia 2 SCN9A - Erythermalgia, primary |
| 219-R | TM Domain 1 | Prob. Benign (3) | 9 | CACNA1A - Hemiplegic migraine SCN11A - Episodic pain syndrome |
| 220-T | TM Domain 1 | Conflict (15) | 9 | SCN1A - Myoclonic epilepsy of infancy SCN2A - Epilepsy of infancy with migrating focal seizures |
| 222-R | TM Domain 1 | None | 9 | SCN11A - Episodic pain syndrome SCN1A - Dravet syndrome SCN2A - Epileptic encephalopathy SCN4A - Hypokalaemic periodic paralysis SCN8A - Epileptic encephalopathy |
| 223-V | TM Domain 1 | Arrhythmia (2) | 9 | SCN1A - Malignant migrating partial seizures in infancy |
| 225-R | TM Domain 1 | Arrhythmia (14) | 9 | SCN2A - Neonatal-infantile seizures SCN4A - Myotonia, non-dystrophic |
| 226-A | TM Domain 1 | Arrhythmia (5) | 9 | SCN1A - Dravet syndrome |
| 227-L | TM Domain 1 | Prob. Benign (0) | ||
| 230-I | TM Domain 1 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 232-V | TM Domain 1 | Arrhythmia (6) | 9 | CACNA1H - Autism spectrum disorder ? |
| 235-G | TM Domain 1 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
| 239-I | TM Domain 1 | Arrhythmia (1) | 9 | SCN9A - Erythermalgia, primary |
| 240-V | TM Domain 1 | Arrhythmia (3) | ||
| 242-A | TM Domain 1 | None | 9 | CACNA1A - Hemiplegic migraine CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Myoclonic epilepsy of infancy SCN2A - Epilepsy of infancy with migrating focal seizures |
| 245-Q | TM Domain 1 | Arrhythmia (1) | ||
| 247-V | TM Domain 1 | Arrhythmia (1) | ||
| 251-A | TM Domain 1 | Prob. Benign (0) | ||
| 262-S | TM Domain 1 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
| 263-V | TM Domain 1 | Prob. Benign (0) | 9 | SCN2A - Neonatal-infantile seizures |
| 265-A | TM Domain 1 | Prob. Benign (0) | 9 | SCN2A - Epileptic encephalopathy, early onset, Neonatal epilepsy, late-onset ataxia, myoclonus & |
| 266-L | TM Domain 1 | Prob. Benign (0) | 9 | SCN1A - Hemiplegic migraine and epilepsy SCN4A - Myotonia |
| 267-I | TM Domain 1 | Arrhythmia (1) | ||
| 268-G | TM Domain 1 | Prob. Benign (0) | 9 | CACNA1F - Night blindness, congenital stationary 2 SCN1A - Myoclonic epilepsy of infancy |
| 270-Q | TM Domain 1 | Arrhythmia (3) | ||
| 273-M | TM Domain 1 | Prob. Benign (0) | ||
| 274-G | TM Domain 1 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 275-N | TM Domain 1 | Arrhythmia (2) | ||
| 276-L | TM Domain 1 | Arrhythmia (3) | ||
| 278-H | TM Domain 1 | Arrhythmia (1) | ||
| 280-C | TM Domain 1 | Arrhythmia (1) | 9 | CACNA1A - Episodic ataxia 2 SCN1A - Dravet syndrome |
| 281-V | TM Domain 1 | Arrhythmia (1) | ||
| 282-R | TM Domain 1 | Arrhythmia (5) | 7 | CACNA1C - Brugada syndrome |
| 285-T | TM Domain 1 | Prob. Benign (0) | ||
| 286-A | TM Domain 1 | Prob. Benign (2) | 2 | CACNA1H - Epilepsy, childhood absence |
| 288-N | TM Domain 1 | Prob. Benign (0) | 3 | SCN3A - Epilepsy |
| 289-G | TM Domain 1 | Arrhythmia (2) | ||
| 291-N | TM Domain 1 | Other Cardiac (3) | ||
| 292-G | TM Domain 1 | Arrhythmia (1) | ||
| 294-V | TM Domain 1 | Arrhythmia (2) | ||
| 295-E | TM Domain 1 | Prob. Benign (0) | ||
| 297-D | TM Domain 1 | None | ||
| 298-G | TM Domain 1 | Other Cardiac (2) | ||
| 299-L | TM Domain 1 | Prob. Benign (2) | ||
| 300-V | TM Domain 1 | Arrhythmia (2) | ||
| 305-D | TM Domain 1 | Prob. Benign (0) | ||
| 306-L | TM Domain 1 | Prob. Benign (0) | ||
| 314-Y | TM Domain 1 | None | ||
| 315-L | TM Domain 1 | Arrhythmia (1) | 7 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 317-K | TM Domain 1 | Arrhythmia (1) | ||
| 319-G | TM Domain 1 | Arrhythmia (3) | ||
| 320-T | TM Domain 1 | Arrhythmia (1) | ||
| 321-S | TM Domain 1 | Arrhythmia (1) | ||
| 325-L | TM Domain 1 | Arrhythmia (2) | ||
| 330-S | TM Domain 1 | Prob. Benign (0) | 4 | SCN1A - Dravet syndrome |
| 332-A | TM Domain 1 | Prob. Benign (0) | 3 | SCN1A - Dravet syndrome, Dravet syndrome C ? |
| 335-C | TM Domain 1 | Arrhythmia (1) | 5 | SCN1A - Dravet syndrome, Dravet syndrome C, Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 336-P | TM Domain 1 | Arrhythmia (2) | ||
| 340-R | TM Domain 1 | Arrhythmia (5) | 8 | SCN1A - Dravet syndrome |
| 346-E | TM Domain 1 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy SCN3A - Epilepsy, focal |
| 348-P | TM Domain 1 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN4A - Myopathy, congenital |
| 349-D | TM Domain 1 | Other Cardiac (1) | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ? |
| 350-H | TM Domain 1 | None | ||
| 351-G | TM Domain 1 | Arrhythmia (3) | 9 | CACNA1A - Episodic ataxia, global developmental delay, and m CACNA1F - High myopia |
| 352-Y | TM Domain 1 | Other Cardiac (1) | ||
| 353-T | TM Domain 1 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 356-D | TM Domain 1 | Arrhythmia (4) | 9 | CACNA1A - Spinocerebellar ataxia 6 SCN1A - Myoclonic epilepsy of infancy |
| 358-F | TM Domain 1 | None | ||
| 367-R | TM Domain 1 | Arrhythmia (15) | 9 | SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus |
| 369-M | TM Domain 1 | Arrhythmia (3) | 9 | SCN1A - Dravet syndrome |
| 370-T | TM Domain 1 | Arrhythmia (3) | ||
| 374-W | TM Domain 1 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 376-R | TM Domain 1 | Arrhythmia (9) | ||
| 384-S | TM Domain 1 | Prob. Benign (0) | ||
| 385-A | TM Domain 1 | Prob. Benign (0) | 8 | SCN1A - Cryptogenic generalised epilepsy |
| 386-G | TM Domain 1 | Arrhythmia (4) | 8 | SCN1A - Dravet syndrome |
| 388-I | TM Domain 1 | Prob. Benign (0) | ||
| 396-V | TM Domain 1 | Arrhythmia (4) | 9 | SCN1A - Dravet syndrome |
| 397-I | TM Domain 1 | Arrhythmia (3) | ||
| 400-G | TM Domain 1 | Other Cardiac (2) | 9 | CACNA1F - Nightblindness-associated transient tonic downgaze |
| 402-F | TM Domain 1 | Prob. Benign (0) | 9 | SCN10A - Brugada syndrome SCN1A - Generalized epilepsy with febrile seizures plus |
| 404-L | TM Domain 1 | Arrhythmia (1) | 9 | SCN10A - Brugada syndrome |
| 406-N | TM Domain 1 | Arrhythmia (6) | 9 | SCN4A - Myotonia SCN9A - Erythermalgia, primary |
| 409-L | TM Domain 1 | Arrhythmia (2) | 9 | SCN8A - Intellectual disability and epilepsy |
| 410-A | TM Domain 1 | Prob. Benign (0) | 9 | CACNA1C - Timothy syndrome CACNA1D - Primary aldosteronism CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Generalized epilepsy with febrile seizures plus SCN8A - Epileptic encephalopathy, early infantile with mov |
| 411-V | TM Domain 1 | Arrhythmia (6) | 9 | SCN4A - Myotonia SCN9A - Erythermalgia, carbamazepine-responsive |
| 413-A | TM Domain 1 | Arrhythmia (2) | ||
| 415-A | TM Domain 1 | Prob. Benign (0) | ||
| 416-Y | Interdomain Linker I-II | Prob. Benign (0) | 9 | CACNA1A - Hemiplegic migraine SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 424-I | Interdomain Linker I-II | Prob. Benign (0) | ||
| 425-A | Interdomain Linker I-II | Prob. Benign (0) | ||
| 428-E | Interdomain Linker I-II | Arrhythmia (4) | ||
| 433-R | Interdomain Linker I-II | Prob. Benign (0) | ||
| 437-A | Interdomain Linker I-II | Prob. Benign (0) | ||
| 438-M | Interdomain Linker I-II | Prob. Benign (0) | ||
| 439-E | Interdomain Linker I-II | Arrhythmia (2) | 3 | CACNA1A - Episodic ataxia 2 |
| 441-L | Interdomain Linker I-II | Prob. Benign (0) | 3 | CACNA1A - Episodic ataxia 2 |
| 445-H | Interdomain Linker I-II | Conflict (2) | ||
| 446-E | Interdomain Linker I-II | None | ||
| 447-A | Interdomain Linker I-II | Prob. Benign (3) | ||
| 449-T | Interdomain Linker I-II | Prob. Benign (2) | ||
| 452-G | Interdomain Linker I-II | None | ||
| 455-T | Interdomain Linker I-II | None | ||
| 456-V | Interdomain Linker I-II | Prob. Benign (0) | ||
| 458-R | Interdomain Linker I-II | Other Cardiac (1) | ||
| 461-L | Interdomain Linker I-II | Conflict (5) | ||
| 462-E | Interdomain Linker I-II | Arrhythmia (5) | ||
| 463-M | Interdomain Linker I-II | Prob. Benign (0) | ||
| 466-L | Interdomain Linker I-II | Arrhythmia (1) | ||
| 467-A | Interdomain Linker I-II | None | ||
| 468-P | Interdomain Linker I-II | Other Cardiac (1) | ||
| 469-V | Interdomain Linker I-II | Prob. Benign (0) | ||
| 470-N | Interdomain Linker I-II | Arrhythmia (1) | ||
| 474-R | Interdomain Linker I-II | Prob. Benign (0) | ||
| 475-R | Interdomain Linker I-II | Prob. Benign (2) | ||
| 480-K | Interdomain Linker I-II | Prob. Benign (0) | ||
| 481-R | Interdomain Linker I-II | Benign (2) | ||
| 486-T | Interdomain Linker I-II | Prob. Benign (0) | ||
| 490-G | Interdomain Linker I-II | Prob. Benign (0) | 2 | CACNA1A - Episodic ataxia 2 |
| 501-D | Interdomain Linker I-II | Arrhythmia (1) | ||
| 504-R | Interdomain Linker I-II | Prob. Benign (0) | ||
| 505-A | Interdomain Linker I-II | Prob. Benign (0) | ||
| 506-M | Interdomain Linker I-II | Arrhythmia (1) | ||
| 512-T | Interdomain Linker I-II | Other Cardiac (1) | ||
| 513-R | Interdomain Linker I-II | Prob. Benign (0) | ||
| 514-G | Interdomain Linker I-II | Arrhythmia (2) | ||
| 517-R | Interdomain Linker I-II | Prob. Benign (0) | ||
| 519-S | Interdomain Linker I-II | Arrhythmia (1) | ||
| 520-M | Interdomain Linker I-II | Prob. Benign (0) | ||
| 521-K | Interdomain Linker I-II | Prob. Benign (0) | 3 | SCN1A - Dravet syndrome |
| 523-R | Interdomain Linker I-II | Arrhythmia (2) | ||
| 524-S | Interdomain Linker I-II | Conflict (5) | ||
| 526-R | Interdomain Linker I-II | Arrhythmia (5) | ||
| 527-G | Interdomain Linker I-II | Prob. Benign (0) | 2 | SCN2A - Neonatal-infantile seizures |
| 528-S | Interdomain Linker I-II | Prob. Benign (0) | ||
| 530-F | Interdomain Linker I-II | Arrhythmia (1) | ||
| 531-T | Interdomain Linker I-II | Prob. Benign (0) | ||
| 532-F | Interdomain Linker I-II | Arrhythmia (3) | ||
| 533-R | Interdomain Linker I-II | Prob. Benign (0) | ||
| 535-R | Interdomain Linker I-II | Arrhythmia (2) | ||
| 538-G | Interdomain Linker I-II | Prob. Benign (0) | ||
| 543-F | Interdomain Linker I-II | Arrhythmia (1) | ||
| 551-A | Interdomain Linker I-II | Arrhythmia (3) | ||
| 552-G | Interdomain Linker I-II | Arrhythmia (3) | ||
| 555-E | Interdomain Linker I-II | Arrhythmia (2) | 3 | SCN9A - Dravet syndrome |
| 557-H | Interdomain Linker I-II | Prob. Benign (0) | 3 | SCN1A - Generalized epilepsy with febrile seizures plus ? |
| 558-H | Interdomain Linker I-II | Conflict (25) | ||
| 559-T | Interdomain Linker I-II | Other Cardiac (1) | ||
| 567-L | Interdomain Linker I-II | Arrhythmia (5) | ||
| 568-R | Interdomain Linker I-II | Arrhythmia (3) | ||
| 569-R | Interdomain Linker I-II | Arrhythmia (2) | 3 | SCN1A - Epilepsy with febrile seizures plus & Dravet syndr |
| 570-T | Interdomain Linker I-II | Prob. Benign (0) | ||
| 571-S | Interdomain Linker I-II | Arrhythmia (1) | ||
| 572-A | Interdomain Linker I-II | Conflict (20) | ||
| 573-Q | Interdomain Linker I-II | Arrhythmia (2) | ||
| 579-G | Interdomain Linker I-II | Arrhythmia (3) | ||
| 581-S | Interdomain Linker I-II | Prob. Benign (0) | ||
| 584-G | Interdomain Linker I-II | Prob. Benign (0) | 2 | SCN1A - Cryptogenic generalised epilepsy |
| 586-A | Interdomain Linker I-II | Arrhythmia (1) | ||
| 588-H | Interdomain Linker I-II | Prob. Benign (0) | 2 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 592-N | Interdomain Linker I-II | Arrhythmia (3) | ||
| 596-D | Interdomain Linker I-II | Prob. Benign (2) | 2 | SCN2A - Dravet syndrome SCN9A - Small fibre neuropathy |
| 599-G | Interdomain Linker I-II | Prob. Benign (0) | ||
| 601-V | Interdomain Linker I-II | Prob. Benign (2) | ||
| 607-G | Interdomain Linker I-II | Prob. Benign (0) | ||
| 608-D | Interdomain Linker I-II | Prob. Benign (0) | 1 | SCN1A - Dravet syndrome |
| 610-E | Interdomain Linker I-II | Prob. Benign (0) | ||
| 614-P | Interdomain Linker I-II | None | ||
| 615-G | Interdomain Linker I-II | Arrhythmia (15) | 1 | SCN9A - Febrile seizures |
| 616-S | Interdomain Linker I-II | Prob. Benign (0) | ||
| 618-L | Interdomain Linker I-II | Conflict (10) | ||
| 619-L | Interdomain Linker I-II | Arrhythmia (6) | ||
| 620-R | Interdomain Linker I-II | Arrhythmia (2) | ||
| 623-M | Interdomain Linker I-II | Prob. Benign (0) | ||
| 624-L | Interdomain Linker I-II | None | ||
| 625-E | Interdomain Linker I-II | Prob. Benign (0) | 1 | SCN1A - Myoclonic epilepsy of infancy |
| 627-P | Interdomain Linker I-II | Arrhythmia (1) | ||
| 630-T | Interdomain Linker I-II | Other Disease (1) | ||
| 632-T | Interdomain Linker I-II | Arrhythmia (2) | 2 | SCN2A - Autism spectrum disorder |
| 634-S | Interdomain Linker I-II | Prob. Benign (0) | ||
| 636-E | Interdomain Linker I-II | Prob. Benign (0) | ||
| 637-P | Interdomain Linker I-II | Arrhythmia (1) | ||
| 638-G | Interdomain Linker I-II | Prob. Benign (2) | ||
| 639-G | Interdomain Linker I-II | Arrhythmia (2) | 2 | SCN9A - Febrile seizures |
| 640-P | Interdomain Linker I-II | Arrhythmia (1) | ||
| 647-A | Interdomain Linker I-II | Arrhythmia (3) | ||
| 648-P | Interdomain Linker I-II | Conflict (5) | ||
| 649-C | Interdomain Linker I-II | Prob. Benign (0) | ||
| 651-D | Interdomain Linker I-II | None | ||
| 652-G | Interdomain Linker I-II | Prob. Benign (0) | ||
| 654-E | Interdomain Linker I-II | Arrhythmia (1) | ||
| 655-E | Interdomain Linker I-II | Arrhythmia (1) | ||
| 656-P | Interdomain Linker I-II | Prob. Benign (2) | ||
| 658-A | Interdomain Linker I-II | Prob. Benign (0) | ||
| 659-R | Interdomain Linker I-II | Prob. Benign (0) | ||
| 661-R | Interdomain Linker I-II | Arrhythmia (3) | ||
| 662-A | Interdomain Linker I-II | Other Cardiac (1) | ||
| 665-A | Interdomain Linker I-II | Arrhythmia (1) | ||
| 668-V | Interdomain Linker I-II | Prob. Benign (0) | 2 | SCN9A - Dravet syndrome ? |
| 671-S | Interdomain Linker I-II | Prob. Benign (0) | ||
| 672-A | Interdomain Linker I-II | Prob. Benign (3) | 3 | SCN10A - Brugada syndrome |
| 673-L | Interdomain Linker I-II | Arrhythmia (1) | ||
| 677-E | Interdomain Linker I-II | Prob. Benign (0) | ||
| 680-R | Interdomain Linker I-II | Arrhythmia (5) | ||
| 681-H | Interdomain Linker I-II | Arrhythmia (2) | ||
| 683-C | Interdomain Linker I-II | Arrhythmia (2) | 3 | CACNA1H - Epilepsy, childhood absence SCN9A - Dravet syndrome ? |
| 689-R | Interdomain Linker I-II | Arrhythmia (11) | ||
| 691-A | Interdomain Linker I-II | Arrhythmia (1) | ||
| 692-Q | Interdomain Linker I-II | Conflict (12) | ||
| 693-R | Interdomain Linker I-II | Prob. Benign (0) | ||
| 701-P | Interdomain Linker I-II | Arrhythmia (4) | ||
| 705-S | Interdomain Linker I-II | Prob. Benign (2) | ||
| 709-G | Interdomain Linker I-II | Arrhythmia (1) | ||
| 714-V | TM Domain 2 | Prob. Benign (0) | ||
| 717-P | TM Domain 2 | Arrhythmia (3) | 8 | SCN1A - Myoclonic epilepsy of infancy |
| 718-F | TM Domain 2 | Prob. Benign (0) | ||
| 724-T | TM Domain 2 | Prob. Benign (0) | ||
| 726-C | TM Domain 2 | None | ||
| 728-V | TM Domain 2 | Arrhythmia (1) | ||
| 730-N | TM Domain 2 | Prob. Benign (0) | ||
| 731-T | TM Domain 2 | Arrhythmia (1) | 9 | CACNA1A - Episodic ataxia 2 SCN8A - Epileptic encephalopathy |
| 733-F | TM Domain 2 | Prob. Benign (0) | ||
| 735-A | TM Domain 2 | Arrhythmia (7) | ||
| 737-E | TM Domain 2 | None | 9 | SCN1A - Dravet syndrome |
| 742-T | TM Domain 2 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
| 746-E | TM Domain 2 | Arrhythmia (2) | ||
| 747-E | TM Domain 2 | Prob. Benign (0) | ||
| 750-Q | TM Domain 2 | Arrhythmia (1) | ||
| 751-V | TM Domain 2 | Prob. Benign (0) | ||
| 752-G | TM Domain 2 | Arrhythmia (7) | ||
| 754-L | TM Domain 2 | Prob. Benign (0) | ||
| 758-G | TM Domain 2 | Arrhythmia (1) | ||
| 759-I | TM Domain 2 | Arrhythmia (2) | ||
| 763-E | TM Domain 2 | Prob. Benign (0) | 9 | CACNA1A - Episodic ataxia 2 |
| 764-M | TM Domain 2 | Arrhythmia (1) | ||
| 772-D | TM Domain 2 | Arrhythmia (4) | 9 | CACNA1H - Epilepsy, childhood absence SCN3A - Epilepsy, focal |
| 773-P | TM Domain 2 | Arrhythmia (1) | ||
| 777-F | TM Domain 2 | Other Cardiac (1) | ||
| 779-Q | TM Domain 2 | Arrhythmia (1) | ||
| 784-F | TM Domain 2 | Prob. Benign (0) | ||
| 785-D | TM Domain 2 | Arrhythmia (1) | ||
| 789-V | TM Domain 2 | Arrhythmia (1) | ||
| 797-G | TM Domain 2 | Arrhythmia (1) | ||
| 800-R | TM Domain 2 | Arrhythmia (2) | 6 | CACNA1H - Idiopathic epilepsy, generalised |
| 805-S | TM Domain 2 | Prob. Benign (0) | ||
| 806-V | TM Domain 2 | Prob. Benign (0) | 9 | CACNA1A - Hemiplegic migraine, Hemiplegic migraine, cerebellar dysfunction & cogn |
| 808-R | TM Domain 2 | Arrhythmia (4) | 9 | CACNA1A - Hemiplegic migraine and ataxia CACNA1S - Hypokalaemic periodic paralysis SCN1A - Generalized epilepsy with febrile seizures plus SCN2A - Intellectual disability, Schizophrenia SCN4A - Hypokalaemic periodic paralysis |
| 811-R | TM Domain 2 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome C ?, Generalized epilepsy with febrile seizures plus, Migrating partial seizures of infancy SCN2A - West syndrome SCN4A - Hypokalaemic periodic paralysis |
| 812-L | TM Domain 2 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome |
| 814-R | TM Domain 2 | Arrhythmia (5) | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN2A - Epilepsy of infancy with migrating focal seizures SCN4A - Normokalaemic periodic paralysis SCN8A - Intellectual disability and epilepsy |
| 816-F | TM Domain 2 | Arrhythmia (2) | ||
| 817-K | TM Domain 2 | Arrhythmia (1) | ||
| 822-W | TM Domain 2 | Arrhythmia (1) | ||
| 828-L | TM Domain 2 | Arrhythmia (1) | 9 | SCN4A - Hyperkalaemic periodic paralysis |
| 833-G | TM Domain 2 | Arrhythmia (3) | 9 | CACNA1A - Hemiplegic migraine and chronic headache SCN1A - Dravet syndrome |
| 834-N | TM Domain 2 | Arrhythmia (1) | 9 | SCN2A - Ohtahara syndrome |
| 835-S | TM Domain 2 | Arrhythmia (1) | ||
| 836-V | TM Domain 2 | Prob. Benign (0) | ||
| 839-L | TM Domain 2 | Arrhythmia (3) | 9 | SCN1A - Dravet syndrome C ? SCN8A - Lennox-Gastaut syndrome |
| 840-G | TM Domain 2 | Arrhythmia (1) | 9 | SCN9A - Pain, dysautonomia & acromesomelia |
| 841-N | TM Domain 2 | Prob. Benign (0) | ||
| 843-T | TM Domain 2 | Arrhythmia (2) | 9 | SCN4A - Hyperkalaemic periodic paralysis |
| 846-L | TM Domain 2 | Other Cardiac (1) | 9 | CACNA1A - Episodic ataxia SCN1A - Dravet syndrome |
| 848-I | TM Domain 2 | Arrhythmia (1) | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 849-I | TM Domain 2 | Other Cardiac (1) | ||
| 851-F | TM Domain 2 | Arrhythmia (3) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 857-G | TM Domain 2 | Prob. Benign (0) | 9 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 858-M | TM Domain 2 | Other Disease (1) | ||
| 866-S | TM Domain 2 | Prob. Benign (0) | 7 | SCN10A - Atrial fibrillation & slow ventricular rates |
| 867-E | TM Domain 2 | Arrhythmia (1) | ||
| 869-R | TM Domain 2 | Prob. Benign (0) | ||
| 872-D | TM Domain 2 | None | ||
| 873-S | TM Domain 2 | Prob. Benign (0) | ||
| 874-G | TM Domain 2 | Prob. Benign (0) | 4 | SCN1A - Dravet syndrome |
| 878-R | TM Domain 2 | Arrhythmia (7) | 8 | SCN1A - Dravet syndrome, Epilepsy ?, Myoclonic epilepsy of infancy SCN9A - Congenital indifference to pain |
| 883-D | TM Domain 2 | None | 9 | SCN1A - Dravet syndrome |
| 886-H | TM Domain 2 | Arrhythmia (2) | 9 | CACNA1H - Autism spectrum disorder ? SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 890-I | TM Domain 2 | Arrhythmia (1) | 9 | CACNA1S - Malignant hyperthermia SCN1A - Dravet syndrome |
| 891-I | TM Domain 2 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 892-F | TM Domain 2 | Arrhythmia (2) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 893-R | TM Domain 2 | Arrhythmia (4) | 9 | SCN10A - Brugada syndrome SCN1A - Dravet syndrome, Generalized epilepsy of infancy, Myoclonic epilepsy of infancy SCN2A - Intellectual disability, nonsyndromic |
| 894-I | TM Domain 2 | Prob. Benign (0) | ||
| 895-L | TM Domain 2 | Prob. Benign (0) | 9 | CACNA1F - Night blindness, congenital stationary 2 |
| 896-C | TM Domain 2 | Arrhythmia (1) | 9 | CACNA1A - Hemiplegic migraine and episodic ataxia 2 SCN1A - Dravet syndrome SCN4A - Myotonia |
| 897-G | TM Domain 2 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 901-E | TM Domain 2 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome C ? |
| 902-T | TM Domain 2 | Prob. Benign (0) | ||
| 904-W | TM Domain 2 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 906-C | TM Domain 2 | None | 9 | CACNA1H - Idiopathic epilepsy, generalised SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 910-S | TM Domain 2 | Arrhythmia (2) | ||
| 912-Q | TM Domain 2 | Arrhythmia (1) | ||
| 915-C | TM Domain 2 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome |
| 917-L | TM Domain 2 | Arrhythmia (1) | ||
| 919-F | TM Domain 2 | None | ||
| 924-V | TM Domain 2 | Benign (2) | 9 | SCN1A - Dravet syndrome |
| 927-N | TM Domain 2 | Arrhythmia (2) | 9 | CACNA1F - Night blindness, congenital stationary 2 |
| 928-L | TM Domain 2 | Arrhythmia (1) | ||
| 935-L | TM Domain 2 | Arrhythmia (1) | ||
| 939-L | TM Domain 2 | None | 9 | CACNA1A - Hemiplegic migraine and episodic ataxia 2 SCN11A - Congenital indifference to pain |
| 945-D | Interdomain Linker II-III | Prob. Benign (0) | 5 | SCN1A - Dravet syndrome |
| 949-A | Interdomain Linker II-III | Prob. Benign (0) | ||
| 950-P | Interdomain Linker II-III | None | ||
| 952-E | Interdomain Linker II-III | Prob. Benign (0) | ||
| 953-D | Interdomain Linker II-III | Prob. Benign (0) | 4 | SCN1A - Epilepsy ? |
| 959-L | Interdomain Linker II-III | Prob. Benign (0) | 4 | CACNA1S - Exertional heat illness SCN2A - Neonatal-infantile seizures |
| 960-Q | Interdomain Linker II-III | Arrhythmia (1) | ||
| 962-A | Interdomain Linker II-III | Prob. Benign (0) | ||
| 965-R | Interdomain Linker II-III | Arrhythmia (11) | ||
| 966-I | Interdomain Linker II-III | Prob. Benign (0) | ||
| 969-G | Interdomain Linker II-III | Prob. Benign (0) | 2 | SCN11A - Painful peripheral neuropathy |
| 971-R | Interdomain Linker II-III | Arrhythmia (1) | ||
| 974-K | Interdomain Linker II-III | Arrhythmia (1) | ||
| 975-R | Interdomain Linker II-III | Arrhythmia (4) | ||
| 979-D | Interdomain Linker II-III | Prob. Benign (0) | ||
| 981-C | Interdomain Linker II-III | Arrhythmia (1) | 3 | SCN1A - Autism ? |
| 982-C | Interdomain Linker II-III | Other Cardiac (4) | ||
| 985-L | Interdomain Linker II-III | Prob. Benign (0) | 2 | SCN1A - Autism ? |
| 986-R | Interdomain Linker II-III | Arrhythmia (3) | ||
| 987-Q | Interdomain Linker II-III | Prob. Benign (0) | ||
| 988-R | Interdomain Linker II-III | Arrhythmia (1) | ||
| 989-P | Interdomain Linker II-III | Prob. Benign (0) | ||
| 991-K | Interdomain Linker II-III | Prob. Benign (0) | ||
| 993-A | Interdomain Linker II-III | Arrhythmia (1) | ||
| 995-L | Interdomain Linker II-III | Prob. Benign (0) | ||
| 997-A | Interdomain Linker II-III | Arrhythmia (5) | ||
| 998-Q | Interdomain Linker II-III | None | 2 | CACNA1A - Episodic ataxia 2 |
| 1000-Q | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1002-P | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1004-C | Interdomain Linker II-III | Arrhythmia (2) | ||
| 1005-I | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1007-T | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1008-P | Interdomain Linker II-III | Other Cardiac (1) | ||
| 1011-P | Interdomain Linker II-III | Other Cardiac (1) | ||
| 1015-E | Interdomain Linker II-III | Prob. Benign (0) | 1 | SCN4A - hyperkalemic periodic paralysis |
| 1016-T | Interdomain Linker II-III | Benign (2) | 1 | SCN8A - Cerebral palsy |
| 1018-K | Interdomain Linker II-III | Prob. Benign (0) | 2 | SCN1A - Dravet syndrome |
| 1021-P | Interdomain Linker II-III | Arrhythmia (1) | ||
| 1023-R | Interdomain Linker II-III | Arrhythmia (3) | ||
| 1027-R | Interdomain Linker II-III | Prob. Benign (1) | ||
| 1032-E | Interdomain Linker II-III | Arrhythmia (1) | ||
| 1033-Q | Interdomain Linker II-III | Arrhythmia (1) | ||
| 1035-G | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1037-G | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1040-G | Interdomain Linker II-III | Prob. Benign (2) | ||
| 1041-D | Interdomain Linker II-III | Arrhythmia (1) | 1 | CACNA1G - Myoclonic epilepsy, juvenile |
| 1044-P | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1045-V | Interdomain Linker II-III | Prob. Benign (0) | 4 | CACNA1F - MRX |
| 1050-A | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1051-V | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1053-E | Interdomain Linker II-III | Arrhythmia (7) | ||
| 1055-D | Interdomain Linker II-III | Arrhythmia (1) | ||
| 1061-E | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1062-D | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1063-E | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1066-S | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1068-G | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1069-T | Interdomain Linker II-III | Arrhythmia (3) | ||
| 1074-S | Interdomain Linker II-III | Arrhythmia (1) | ||
| 1077-Q | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1079-S | Interdomain Linker II-III | Arrhythmia (2) | ||
| 1082-V | Interdomain Linker II-III | Prob. Benign (2) | ||
| 1083-S | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1084-G | Interdomain Linker II-III | Other Cardiac (2) | ||
| 1088-A | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1090-P | Interdomain Linker II-III | Arrhythmia (11) | ||
| 1091-D | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1095-W | Interdomain Linker II-III | Arrhythmia (1) | 1 | CACNA1C - Long QT syndrome |
| 1098-V | Interdomain Linker II-III | Prob. Benign (2) | ||
| 1100-A | Interdomain Linker II-III | Arrhythmia (4) | ||
| 1103-S | Interdomain Linker II-III | Benign (9) | ||
| 1105-E | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1106-A | Interdomain Linker II-III | Other Cardiac (1) | 0 | CACNA1A - Epilepsy, idiopathic |
| 1107-E | Interdomain Linker II-III | Other Cardiac (3) | ||
| 1109-S | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1113-A | Interdomain Linker II-III | Arrhythmia (2) | ||
| 1114-D | Interdomain Linker II-III | Arrhythmia (5) | ||
| 1115-W | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1116-R | Interdomain Linker II-III | Benign (2) | ||
| 1121-A | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1125-A | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1130-E | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1131-T | Interdomain Linker II-III | Arrhythmia (1) | ||
| 1132-P | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1134-D | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1135-S | Interdomain Linker II-III | Arrhythmia (1) | ||
| 1138-E | Interdomain Linker II-III | Arrhythmia (1) | ||
| 1140-S | Interdomain Linker II-III | Arrhythmia (2) | ||
| 1142-A | Interdomain Linker II-III | None | ||
| 1147-T | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1148-A | Interdomain Linker II-III | Prob. Benign (0) | 1 | SCN4A - Normokalaemic periodic paralysis with involuntary |
| 1153-Q | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1154-I | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1155-P | Interdomain Linker II-III | Prob. Benign (0) | 1 | SCN8A - Hyperinsulinism |
| 1156-D | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1158-G | Interdomain Linker II-III | Other Disease (1) | ||
| 1163-D | Interdomain Linker II-III | Arrhythmia (1) | ||
| 1164-P | Interdomain Linker II-III | None | ||
| 1165-E | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1166-D | Interdomain Linker II-III | Arrhythmia (1) | ||
| 1167-C | Interdomain Linker II-III | None | ||
| 1169-T | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1171-G | Interdomain Linker II-III | None | 2 | CACNA1H - Epilepsy, childhood absence |
| 1173-V | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1174-R | Interdomain Linker II-III | Prob. Benign (0) | 1 | SCN10A - Brugada syndrome |
| 1175-R | Interdomain Linker II-III | Arrhythmia (1) | ||
| 1177-P | Interdomain Linker II-III | Arrhythmia (1) | ||
| 1180-A | Interdomain Linker II-III | None | ||
| 1181-V | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1186-A | Interdomain Linker II-III | Arrhythmia (1) | ||
| 1187-P | Interdomain Linker II-III | Arrhythmia (1) | ||
| 1190-V | Interdomain Linker II-III | Prob. Benign (0) | ||
| 1193-R | Interdomain Linker II-III | Conflict (27) | ||
| 1194-L | Interdomain Linker II-III | Arrhythmia (1) | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Myoclonic epilepsy of infancy |
| 1195-R | Interdomain Linker II-III | Other Cardiac (1) | 9 | SCN1A - Dravet syndrome B ? |
| 1199-Y | Interdomain Linker II-III | Arrhythmia (1) | ||
| 1201-I | TM Domain 3 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
| 1202-V | TM Domain 3 | Prob. Benign (0) | ||
| 1206-W | TM Domain 3 | Other Cardiac (1) | 9 | CACNA1A - Hemiplegic migraine |
| 1208-E | TM Domain 3 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ? SCN2A - Neonatal-infantile seizures |
| 1210-F | TM Domain 3 | None | ||
| 1215-I | TM Domain 3 | Prob. Benign (0) | ||
| 1217-L | TM Domain 3 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus ? |
| 1218-S | TM Domain 3 | Arrhythmia (1) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1219-S | TM Domain 3 | Arrhythmia (1) | ||
| 1221-A | TM Domain 3 | Arrhythmia (1) | ||
| 1223-A | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome |
| 1225-E | TM Domain 3 | Arrhythmia (6) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1228-Y | TM Domain 3 | Arrhythmia (2) | ||
| 1230-E | TM Domain 3 | Prob. Benign (0) | ||
| 1231-E | TM Domain 3 | Arrhythmia (1) | ||
| 1232-R | TM Domain 3 | Arrhythmia (9) | 7 | SCN1A - Myoclonic epilepsy of infancy |
| 1236-K | TM Domain 3 | Arrhythmia (2) | 8 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1237-V | TM Domain 3 | None | 8 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1239-L | TM Domain 3 | Arrhythmia (1) | ||
| 1240-E | TM Domain 3 | Arrhythmia (3) | ||
| 1241-Y | TM Domain 3 | Arrhythmia (1) | 9 | SCN1A - Intractable epilepsy |
| 1243-D | TM Domain 3 | Arrhythmia (4) | 9 | SCN4A - Myopathy, congenital |
| 1245-M | TM Domain 3 | Prob. Benign (0) | ||
| 1247-T | TM Domain 3 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
| 1249-V | TM Domain 3 | Arrhythmia (1) | ||
| 1250-F | TM Domain 3 | Arrhythmia (2) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1251-V | TM Domain 3 | Prob. Benign (2) | ||
| 1253-E | TM Domain 3 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome C ? |
| 1255-L | TM Domain 3 | Prob. Benign (0) | ||
| 1260-A | TM Domain 3 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome SCN9A - Congenital indifference to pain |
| 1262-G | TM Domain 3 | Arrhythmia (3) | 9 | CACNA1E - Autism CACNA1F - Night blindness, congenital stationary 2 SCN1A - Dravet syndrome, Epileptic encephalopathy |
| 1264-K | TM Domain 3 | Prob. Benign (0) | ||
| 1269-N | TM Domain 3 | Arrhythmia (1) | 9 | CACNA1F - Congenital stationary night blindness |
| 1271-W | TM Domain 3 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome |
| 1273-W | TM Domain 3 | Prob. Benign (0) | ||
| 1275-D | TM Domain 3 | Arrhythmia (15) | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Dravet syndrome C ? |
| 1278-I | TM Domain 3 | Arrhythmia (1) | 9 | SCN10A - Brugada syndrome |
| 1279-V | TM Domain 3 | None | 9 | CACNA1S - Hypokalaemic periodic paralysis SCN2A - Schizophrenia |
| 1281-V | TM Domain 3 | Arrhythmia (2) | ||
| 1283-L | TM Domain 3 | Arrhythmia (1) | ||
| 1285-S | TM Domain 3 | Other Cardiac (1) | ||
| 1288-A | TM Domain 3 | Arrhythmia (1) | ||
| 1293-F | TM Domain 3 | Conflict (8) | ||
| 1294-A | TM Domain 3 | Prob. Benign (0) | ||
| 1295-E | TM Domain 3 | Arrhythmia (1) | 8 | CACNA1A - Cerebellar ataxia SCN1A - Febrile seizures |
| 1296-M | TM Domain 3 | Prob. Benign (0) | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1298-P | TM Domain 3 | Other Cardiac (4) | ||
| 1303-R | TM Domain 3 | Prob. Benign (0) | 9 | CACNA1A - Hemiplegic migraine, progressive cerebellar ataxia CACNA1S - Hypokalaemic periodic paralysis SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN4A - Periodic paralysis |
| 1304-T | TM Domain 3 | Arrhythmia (15) | ||
| 1306-R | TM Domain 3 | Prob. Benign (0) | 9 | CACNA1A - Ataxia, mental retardation and dyskinesia CACNA1S - Hypokalaemic periodic paralysis SCN4A - Hypokalaemic periodic paralysis |
| 1308-L | TM Domain 3 | Conflict (8) | ||
| 1309-R | TM Domain 3 | Other Cardiac (1) | 9 | SCN1A - Dravet syndrome SCN2A - Neonatal-infantile seizures SCN4A - Hyperkalaemic periodic paralysis, Hypokalaemic periodic paralysis |
| 1311-L | TM Domain 3 | Arrhythmia (1) | ||
| 1316-R | TM Domain 3 | Other Cardiac (1) | 9 | CACNA1A - Episodic ataxia 2 SCN2A - Neonatal-infantile seizures |
| 1317-F | TM Domain 3 | Prob. Benign (0) | ||
| 1319-G | TM Domain 3 | Arrhythmia (6) | ||
| 1320-M | TM Domain 3 | Prob. Benign (0) | 9 | SCN1A - Generalized epilepsy with febrile seizures plus SCN2A - Ohtahara syndrome |
| 1323-V | TM Domain 3 | Arrhythmia (2) | 9 | SCN2A - Migrating focal seizures of infancy, Ohtahara syndrome SCN4A - Episodic paralyses and myotonic discharges SCN9A - Paroxysmal extreme pain disorder |
| 1325-N | TM Domain 3 | Arrhythmia (9) | 9 | SCN1A - Dravet syndrome |
| 1326-A | TM Domain 3 | Arrhythmia (1) | 9 | CACNA1A - Hemiplegic migraine SCN1A - Myoclonic epilepsy of infancy SCN4A - Paramyotonia congenita |
| 1329-G | TM Domain 3 | Arrhythmia (2) | ||
| 1330-A | TM Domain 3 | Arrhythmia (3) | 9 | CACNA1A - Encephalopathy, epileptic SCN4A - Paramyotonia congenita SCN8A - Epileptic encephalopathy, infantile |
| 1331-I | TM Domain 3 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1332-P | TM Domain 3 | Arrhythmia (6) | 9 | SCN1A - Epilepsy of infancy with migrating focal seizures, Epileptic encephalopathy, early onset SCN4A - Hypokalaemic periodic paralysis, Myotonia SCN9A - Erythermalgia, primary |
| 1333-S | TM Domain 3 | Arrhythmia (2) | 9 | SCN2A - Ohtahara syndrome |
| 1334-I | TM Domain 3 | Arrhythmia (1) | 9 | SCN4A - Hyperkalaemic periodic paralysis SCN8A - Epileptic encephalopathy, multiple congenital anom |
| 1335-M | TM Domain 3 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome SCN2A - Ohtahara syndrome |
| 1338-L | TM Domain 3 | Arrhythmia (1) | 9 | SCN2A - Autism spectrum disorder SCN8A - Epileptic encephalopathy |
| 1340-V | TM Domain 3 | Arrhythmia (3) | 9 | SCN11A - Cold-aggravated peripheral pain SCN1A - Generalized epilepsy with febrile seizures plus SCN9A - Erythermalgia, primary |
| 1342-L | TM Domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1344-F | TM Domain 3 | Arrhythmia (2) | 9 | SCN1A - Intractable epilepsy |
| 1345-W | TM Domain 3 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome C, Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 1346-L | TM Domain 3 | Arrhythmia (2) | ||
| 1350-I | TM Domain 3 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome |
| 1351-M | TM Domain 3 | Arrhythmia (1) | ||
| 1353-V | TM Domain 3 | Arrhythmia (2) | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1357-A | TM Domain 3 | Arrhythmia (2) | 9 | SCN10A - Peripheral neuropathy, painful SCN1A - Dravet syndrome B ? |
| 1358-G | TM Domain 3 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome |
| 1359-K | TM Domain 3 | Arrhythmia (1) | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1360-F | TM Domain 3 | Arrhythmia (2) | 9 | CACNA1A - Episodic ataxia 2 |
| 1362-R | TM Domain 3 | Prob. Benign (0) | ||
| 1363-C | TM Domain 3 | Arrhythmia (2) | 9 | SCN1A - Intractable epilepsy |
| 1364-I | TM Domain 3 | Prob. Benign (0) | ||
| 1365-N | TM Domain 3 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome C ? |
| 1366-Q | TM Domain 3 | Prob. Benign (0) | ||
| 1370-D | TM Domain 3 | Prob. Benign (0) | ||
| 1375-Y | TM Domain 3 | Prob. Benign (0) | ||
| 1377-I | TM Domain 3 | Prob. Benign (0) | ||
| 1378-V | TM Domain 3 | Arrhythmia (1) | 4 | SCN1A - Generalised epilepsy with febrile seizures plus 2, Myoclonic epilepsy of infancy |
| 1380-N | TM Domain 3 | Arrhythmia (2) | 4 | SCN10A - Brugada syndrome |
| 1382-S | TM Domain 3 | Arrhythmia (3) | 4 | SCN1A - Dravet syndrome C ? |
| 1387-L | TM Domain 3 | Prob. Benign (0) | ||
| 1391-G | TM Domain 3 | Prob. Benign (0) | ||
| 1405-V | TM Domain 3 | Arrhythmia (3) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1406-G | TM Domain 3 | Arrhythmia (4) | ||
| 1408-G | TM Domain 3 | Arrhythmia (5) | ||
| 1409-Y | TM Domain 3 | Arrhythmia (2) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1410-L | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome C ? |
| 1412-L | TM Domain 3 | Arrhythmia (2) | 9 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 1416-A | TM Domain 3 | Arrhythmia (1) | 9 | SCN1A - Developmental disorder and intellectual disability, Intractable epilepsy |
| 1419-K | TM Domain 3 | Arrhythmia (2) | 9 | CACNA1C - Brugada syndrome (shorter-than-normal QT interval) SCN1A - Dravet syndrome SCN2A - Spasms, infantile, and bitemporal glucose hypometa |
| 1420-G | TM Domain 3 | Arrhythmia (3) | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 1423-D | TM Domain 3 | Prob. Benign (0) | ||
| 1424-I | TM Domain 3 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
| 1427-A | TM Domain 3 | Arrhythmia (2) | 9 | SCN1A - Autism spectrum disorder, Dravet syndrome |
| 1428-A | TM Domain 3 | Arrhythmia (6) | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1430-D | TM Domain 3 | Other Cardiac (1) | ||
| 1432-R | TM Domain 3 | Arrhythmia (5) | 9 | SCN10A - Brugada syndrome |
| 1433-G | TM Domain 3 | Arrhythmia (2) | ||
| 1438-P | TM Domain 3 | Arrhythmia (3) | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 1439-Q | TM Domain 3 | Prob. Benign (0) | ||
| 1441-E | TM Domain 3 | Arrhythmia (2) | 9 | CACNA1A - Episodic ataxia 2 SCN1A - Dravet syndrome C ? |
| 1442-Y | TM Domain 3 | Prob. Benign (0) | ||
| 1443-N | TM Domain 3 | Arrhythmia (1) | 9 | CACNA1C - Autism spectrum disorder |
| 1445-Y | TM Domain 3 | Prob. Benign (0) | ||
| 1446-M | TM Domain 3 | None | ||
| 1448-I | TM Domain 3 | Arrhythmia (5) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1449-Y | TM Domain 3 | Arrhythmia (4) | 9 | CACNA1A - Episodic ataxia 2 SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 1451-V | TM Domain 3 | Arrhythmia (1) | ||
| 1458-S | TM Domain 3 | Arrhythmia (2) | 9 | SCN10A - Brugada syndrome SCN1A - Dravet syndrome |
| 1463-N | TM Domain 3 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome B ? |
| 1466-I | TM Domain 3 | None | ||
| 1468-V | TM Domain 3 | Arrhythmia (2) | 9 | SCN4A - Paramyotonia congenita |
| 1469-I | TM Domain 3 | None | ||
| 1470-I | TM Domain 3 | None | 9 | CACNA1C - Long QT, non-syndromic, Timothy syndrome SCN1A - Epilepsy ? SCN2A - Neonatal-infantile seizures |
| 1471-D | Interdomain Linker III-IV | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
| 1472-N | Interdomain Linker III-IV | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN4A - Myotonia, non-dystrophic SCN8A - Epileptic encephalopathy, infantile |
| 1473-F | Interdomain Linker III-IV | Arrhythmia (4) | 9 | SCN9A - Erythermalgia, primary |
| 1475-Q | Interdomain Linker III-IV | None | ||
| 1476-Q | Interdomain Linker III-IV | Arrhythmia (1) | 7 | SCN1A - Hemiplegic migraine, Hemiplegic migraine 2 SCN2A - Epileptic encephalopathy, early infantile |
| 1477-K | Interdomain Linker III-IV | Arrhythmia (1) | ||
| 1481-G | Interdomain Linker III-IV | Arrhythmia (2) | 4 | SCN4A - Myotonia, Paramyotonia congenita |
| 1483-Q | Interdomain Linker III-IV | Prob. Benign (0) | ||
| 1485-I | Interdomain Linker III-IV | Arrhythmia (1) | 5 | SCN1A - Hemiplegic migraine SCN8A - Epileptic encephalopathy SCN9A - Paroxysmal extreme pain disorder |
| 1486-F | Interdomain Linker III-IV | Other Cardiac (3) | 6 | SCN1A - Hemiplegic migraine 2 SCN9A - Paroxysmal extreme pain disorder |
| 1487-M | Interdomain Linker III-IV | Arrhythmia (1) | 5 | SCN1A - Hemiplegic migraine 3 |
| 1488-T | Interdomain Linker III-IV | Arrhythmia (1) | 5 | SCN4A - Hyperkalaemic periodic paralysis, Paramyotonia congenita SCN9A - Paroxysmal extreme pain disorder |
| 1489-E | Interdomain Linker III-IV | Arrhythmia (1) | 5 | SCN8A - Infantile seizures, benign and paroxysmal dyskines |
| 1493-K | Interdomain Linker III-IV | Arrhythmia (2) | ||
| 1494-Y | Interdomain Linker III-IV | Arrhythmia (1) | ||
| 1495-Y | Interdomain Linker III-IV | Arrhythmia (1) | 3 | CACNA1S - Hypokalaemic periodic paralysis, Malignant hyperthermia |
| 1498-M | Interdomain Linker III-IV | Arrhythmia (3) | 3 | SCN1A - Intractable epilepsy |
| 1500-K | Interdomain Linker III-IV | Arrhythmia (2) | ||
| 1501-L | Interdomain Linker III-IV | Arrhythmia (6) | 2 | SCN1A - Dravet syndrome |
| 1502-G | Interdomain Linker III-IV | Arrhythmia (2) | 2 | SCN1A - Lenox–Gastaut syndrome |
| 1503-S | Interdomain Linker III-IV | Arrhythmia (1) | 3 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1505-K | Interdomain Linker III-IV | Arrhythmia (1) | ||
| 1506-P | Interdomain Linker III-IV | Arrhythmia (2) | 4 | SCN1A - Dravet syndrome |
| 1509-P | Interdomain Linker III-IV | Prob. Benign (0) | ||
| 1512-R | Interdomain Linker III-IV | Arrhythmia (7) | 5 | SCN4A - Myotonia, sodium channel |
| 1515-N | Interdomain Linker III-IV | Prob. Benign (0) | ||
| 1520-F | Interdomain Linker III-IV | None | ||
| 1521-I | Interdomain Linker III-IV | Arrhythmia (1) | ||
| 1522-F | Interdomain Linker III-IV | Arrhythmia (1) | ||
| 1523-D | Interdomain Linker III-IV | Prob. Benign (0) | ||
| 1524-I | TM Domain 4 | Prob. Benign (0) | ||
| 1525-V | TM Domain 4 | Arrhythmia (3) | 9 | SCN1A - Dravet syndrome |
| 1527-K | TM Domain 4 | Arrhythmia (1) | ||
| 1529-A | TM Domain 4 | Prob. Benign (0) | ||
| 1532-V | TM Domain 4 | Arrhythmia (4) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1539-C | TM Domain 4 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
| 1543-V | TM Domain 4 | Prob. Benign (1) | ||
| 1544-T | TM Domain 4 | Arrhythmia (1) | ||
| 1548-E | TM Domain 4 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome |
| 1551-D | TM Domain 4 | Prob. Benign (0) | ||
| 1553-S | TM Domain 4 | Arrhythmia (1) | ||
| 1555-E | TM Domain 4 | Prob. Benign (0) | ||
| 1557-I | TM Domain 4 | Prob. Benign (0) | ||
| 1559-I | TM Domain 4 | Prob. Benign (0) | ||
| 1560-L | TM Domain 4 | Arrhythmia (1) | 9 | SCN2A - Neonatal-infantile seizures |
| 1567-F | TM Domain 4 | Prob. Benign (0) | ||
| 1569-A | TM Domain 4 | Arrhythmia (1) | ||
| 1571-F | TM Domain 4 | Arrhythmia (1) | ||
| 1574-E | TM Domain 4 | Arrhythmia (3) | ||
| 1578-K | TM Domain 4 | Other Cardiac (1) | ||
| 1582-L | TM Domain 4 | Arrhythmia (2) | ||
| 1583-R | TM Domain 4 | Arrhythmia (4) | 9 | SCN1A - Cryptogenic focal epilepsy, Dravet syndrome, Generalized epilepsy with febrile seizures plus ? |
| 1585-Y | TM Domain 4 | Prob. Benign (0) | 9 | CACNA1H - Epilepsy with auditory features |
| 1593-I | TM Domain 4 | Arrhythmia (1) | 9 | SCN2A - Neonatal-infantile seizures ? |
| 1594-F | TM Domain 4 | Arrhythmia (1) | 9 | SCN4A - hyperkalemic periodic paralysis |
| 1595-D | TM Domain 4 | Other Cardiac (3) | 9 | SCN1A - Myoclonic epilepsy of infancy SCN2A - Intellectual disability, developmental delay, seiz |
| 1596-F | TM Domain 4 | Arrhythmia (6) | ||
| 1597-V | TM Domain 4 | Arrhythmia (2) | ||
| 1598-V | TM Domain 4 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy SCN8A - Epileptic encephalopathy |
| 1604-V | TM Domain 4 | Arrhythmia (1) | ||
| 1605-G | TM Domain 4 | Prob. Benign (0) | ||
| 1606-T | TM Domain 4 | Prob. Benign (0) | 9 | SCN1A - Intractable epilepsy |
| 1609-S | TM Domain 4 | Arrhythmia (2) | 9 | SCN4A - Myotonia, non-dystrophic |
| 1610-D | TM Domain 4 | Prob. Benign (0) | ||
| 1612-I | TM Domain 4 | Prob. Benign (0) | ||
| 1613-Q | TM Domain 4 | Arrhythmia (1) | ||
| 1616-F | TM Domain 4 | Other Cardiac (1) | ||
| 1619-P | TM Domain 4 | Prob. Benign (0) | 6 | SCN1A - Myoclonic epilepsy of infancy |
| 1620-T | TM Domain 4 | Arrhythmia (10) | 7 | SCN2A - Ohtahara syndrome |
| 1623-R | TM Domain 4 | Arrhythmia (19) | 6 | CACNA1A - Episodic ataxia 2 CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Lennox-Gastaut syndrome SCN2A - Seizures, benign infantile SCN4A - Myotonia, Paramyotonia congenita SCN8A - Intellectual disability, nonsyndromic |
| 1624-V | TM Domain 4 | None | 6 | SCN1A - Hepatic coma |
| 1626-R | TM Domain 4 | Arrhythmia (8) | 6 | CACNA1A - Spinocerebellar ataxia 6 CACNA1S - Hypokalaemic periodic paralysis SCN1A - Dravet syndrome SCN2A - Epileptic encephalopathy, early onset SCN4A - Periodic paralysis |
| 1629-R | TM Domain 4 | Arrhythmia (3) | 4 | CACNA1G - Cerebellar ataxia, autosomal dominant SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN4A - Congenital myasthenic syndrome with periodic paral |
| 1631-G | TM Domain 4 | Arrhythmia (1) | 7 | SCN2A - Ohtahara syndrome SCN4A - Paramyotonia congenita, von Eulenburg SCN9A - Paroxysmal extreme pain disorder |
| 1632-R | TM Domain 4 | Arrhythmia (5) | 7 | CACNA1A - Hemiplegic migraine with cerebellar signs CACNA1S - Normokalaemic periodic paralysis SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN4A - Congenital myasthenic syndrome |
| 1638-R | TM Domain 4 | Prob. Benign (0) | 9 | SCN10A - Atrial fibrillation SCN2A - Seizures, benign infantile |
| 1639-G | TM Domain 4 | Prob. Benign (0) | ||
| 1642-G | TM Domain 4 | Arrhythmia (1) | ||
| 1643-I | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus |
| 1644-R | TM Domain 4 | Arrhythmia (10) | 9 | CACNA1A - Episodic ataxia 2 SCN1A - Cryptogenic focal epilepsy, Generalized epilepsy with febrile seizures plus |
| 1645-T | TM Domain 4 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1646-L | TM Domain 4 | Arrhythmia (1) | ||
| 1649-A | TM Domain 4 | Arrhythmia (2) | 9 | SCN1A - Myoclonic epilepsy, borderline |
| 1650-L | TM Domain 4 | Arrhythmia (2) | ||
| 1651-M | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome SCN4A - Myotonia, Paramyotonia congenita SCN8A - Partial seizures with intellectual / developmental SCN9A - Paroxysmal extreme pain disorder |
| 1652-M | TM Domain 4 | Arrhythmia (2) | ||
| 1659-N | TM Domain 4 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ? |
| 1660-I | TM Domain 4 | Arrhythmia (5) | 9 | CACNA1A - Hemipl. migraine/alternating hemipl. of childhood, Hemiplegic migraine SCN1A - Dravet syndrome C ?, Generalised epilepsy with febrile seizures plus |
| 1661-G | TM Domain 4 | Arrhythmia (3) | 9 | SCN1A - Acute encephalopathy with biphasic seizures & late, Myoclonic epilepsy of infancy |
| 1667-V | TM Domain 4 | Arrhythmia (3) | ||
| 1668-M | TM Domain 4 | Prob. Benign (0) | ||
| 1670-I | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome C ?, Epilepsy ? SCN4A - Hyperkalaemic periodic paralysis |
| 1672-S | TM Domain 4 | Arrhythmia (2) | 9 | SCN1A - Febrile seizures, Myoclonic epilepsy of infancy |
| 1676-M | TM Domain 4 | Prob. Benign (0) | ||
| 1678-N | TM Domain 4 | Prob. Benign (0) | ||
| 1680-A | TM Domain 4 | Arrhythmia (4) | 9 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 1681-Y | TM Domain 4 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1685-E | TM Domain 4 | Other Cardiac (2) | 6 | CACNA1A - Hemiplgic migraine ? |
| 1689-D | TM Domain 4 | Prob. Benign (0) | 9 | SCN10A - Painful small fibre neuropathy with gastroparesis SCN1A - Dravet syndrome |
| 1690-D | TM Domain 4 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome |
| 1691-M | TM Domain 4 | None | 9 | CACNA1A - Episodic ataxia 2 |
| 1692-F | TM Domain 4 | None | ||
| 1698-A | TM Domain 4 | Arrhythmia (1) | ||
| 1701-M | TM Domain 4 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1703-C | TM Domain 4 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Myoclonic epilepsy of infancy |
| 1705-F | TM Domain 4 | Other Cardiac (1) | ||
| 1706-Q | TM Domain 4 | Arrhythmia (1) | 9 | CACNA1A - Episodic ataxia 2 |
| 1708-T | TM Domain 4 | Arrhythmia (1) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1709-T | TM Domain 4 | Arrhythmia (3) | 9 | SCN1A - Dravet syndrome |
| 1710-S | TM Domain 4 | Arrhythmia (4) | 9 | CACNA1A - Epilepsy with typical absence seizures |
| 1712-G | TM Domain 4 | Arrhythmia (2) | 9 | SCN10A - Small fibre neuropathy SCN1A - Dravet syndrome SCN4A - Essential tremor |
| 1714-D | TM Domain 4 | Arrhythmia (3) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1715-G | TM Domain 4 | None | 9 | CACNA1F - Usher syndrome ? |
| 1717-L | TM Domain 4 | Arrhythmia (1) | ||
| 1718-S | TM Domain 4 | Prob. Benign (0) | ||
| 1722-N | TM Domain 4 | Arrhythmia (2) | ||
| 1723-T | TM Domain 4 | Arrhythmia (1) | ||
| 1725-P | TM Domain 4 | Arrhythmia (1) | ||
| 1728-C | TM Domain 4 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome, Lennox-Gastaut syndrome, Myoclonic epilepsy of infancy |
| 1729-D | TM Domain 4 | Prob. Benign (0) | 8 | SCN1A - Dravet syndrome, late-onset, Generalized epilepsy with febrile seizures plus |
| 1730-P | TM Domain 4 | Prob. Benign (0) | ||
| 1737-G | TM Domain 4 | Prob. Benign (0) | ||
| 1738-S | TM Domain 4 | Prob. Benign (0) | 3 | SCN4A - Seizures |
| 1739-R | TM Domain 4 | Arrhythmia (2) | ||
| 1740-G | TM Domain 4 | Arrhythmia (5) | 3 | SCN1A - Dravet syndrome SCN2A - Autism spectrum disorder |
| 1741-D | TM Domain 4 | Prob. Benign (0) | 3 | SCN1A - Dravet syndrome |
| 1743-G | TM Domain 4 | Arrhythmia (9) | 5 | SCN1A - Dravet syndrome |
| 1744-S | TM Domain 4 | None | 5 | CACNA1S - Malignant hyperthermia |
| 1746-A | TM Domain 4 | Arrhythmia (1) | ||
| 1747-V | TM Domain 4 | Arrhythmia (1) | 9 | SCN10A - Brugada syndrome |
| 1748-G | TM Domain 4 | Arrhythmia (1) | 9 | SCN1A - Febrile seizures ?, Myoclonic epilepsy of infancy |
| 1750-L | TM Domain 4 | Prob. Benign (0) | ||
| 1754-T | TM Domain 4 | None | ||
| 1758-I | TM Domain 4 | Arrhythmia (1) | ||
| 1759-S | TM Domain 4 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1761-L | TM Domain 4 | Arrhythmia (2) | ||
| 1763-V | TM Domain 4 | Arrhythmia (5) | 9 | SCN4A - Myotonia SCN9A - Paroxysmal extreme pain disorder |
| 1764-V | TM Domain 4 | Arrhythmia (2) | ||
| 1766-M | TM Domain 4 | Arrhythmia (5) | 9 | SCN1A - Myoclonic epilepsy of infancy SCN2A - Epileptic encephalopathy, neonatal SCN4A - Hyperkalaemic periodic paralysis |
| 1767-Y | TM Domain 4 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1768-I | TM Domain 4 | Arrhythmia (8) | 9 | SCN1A - Dravet syndrome |
| 1769-A | TM Domain 4 | Prob. Benign (0) | 9 | CACNA1C - Timothy syndrome SCN1A - Myoclonic epilepsy of infancy SCN9A - Erythromelalgia |
| 1771-I | TM Domain 4 | Prob. Benign (0) | 9 | CACNA1A - Hemiplegic migraine and episodic ataxia 2 CACNA1C - Long QT, non-syndromic |
| 1772-L | TM Domain 4 | Arrhythmia (1) | ||
| 1774-N | C-terminus | Arrhythmia (4) | 9 | SCN8A - Epileptic encephalopathy, infantile |
| 1777-V | C-terminus | Arrhythmia (5) | ||
| 1779-T | C-terminus | Arrhythmia (8) | ||
| 1780-E | C-terminus | Arrhythmia (2) | ||
| 1781-E | C-terminus | Arrhythmia (1) | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1783-T | C-terminus | None | ||
| 1784-E | C-terminus | Arrhythmia (17) | ||
| 1785-P | C-terminus | Prob. Benign (0) | ||
| 1786-L | C-terminus | Arrhythmia (3) | ||
| 1787-S | C-terminus | Conflict (13) | ||
| 1790-D | C-terminus | Arrhythmia (7) | ||
| 1792-D | C-terminus | Other Cardiac (1) | ||
| 1793-M | C-terminus | None | 8 | CACNA1C - Long QT, non-syndromic |
| 1795-Y | C-terminus | Arrhythmia (9) | ||
| 1797-I | C-terminus | Prob. Benign (0) | ||
| 1802-D | C-terminus | Arrhythmia (1) | ||
| 1809-I | C-terminus | Prob. Benign (0) | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1812-S | C-terminus | Prob. Benign (0) | ||
| 1816-D | C-terminus | Prob. Benign (0) | ||
| 1819-D | C-terminus | Arrhythmia (3) | 9 | CACNA1C - Autism spectrum disorder |
| 1820-A | C-terminus | Prob. Benign (0) | ||
| 1823-E | C-terminus | Prob. Benign (0) | ||
| 1824-P | C-terminus | Arrhythmia (1) | 8 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 1825-L | C-terminus | Arrhythmia (3) | 8 | SCN1A - Dravet syndrome SCN2A - Epileptic encephalopathy, early infantile |
| 1826-R | C-terminus | Arrhythmia (6) | 7 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 1828-A | C-terminus | Prob. Benign (0) | ||
| 1832-Q | C-terminus | Arrhythmia (4) | ||
| 1836-I | C-terminus | None | ||
| 1839-D | C-terminus | Arrhythmia (2) | ||
| 1842-M | C-terminus | Prob. Benign (0) | 8 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1847-R | C-terminus | Arrhythmia (1) | 9 | SCN1A - Intractable epilepsy |
| 1849-H | C-terminus | Other Cardiac (1) | 9 | SCN2A - Ohtahara syndrome |
| 1850-C | C-terminus | Arrhythmia (1) | ||
| 1852-D | C-terminus | Prob. Benign (0) | 7 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1860-R | C-terminus | Arrhythmia (1) | ||
| 1861-V | C-terminus | Arrhythmia (1) | ||
| 1864-E | C-terminus | None | ||
| 1870-A | C-terminus | Arrhythmia (1) | ||
| 1872-K | C-terminus | Arrhythmia (1) | 4 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1873-I | C-terminus | Prob. Benign (0) | ||
| 1875-M | C-terminus | Arrhythmia (1) | ||
| 1876-E | C-terminus | None | 4 | SCN4A - Paramyotonia congenita SCN8A - Epilepsy |
| 1880-M | C-terminus | Other Cardiac (1) | ||
| 1884-P | C-terminus | Prob. Benign (0) | ||
| 1886-K | C-terminus | None | ||
| 1887-I | C-terminus | None | ||
| 1890-E | C-terminus | Other Cardiac (1) | ||
| 1891-P | C-terminus | None | 4 | SCN1A - Autism spectrum disorder |
| 1895-T | C-terminus | Prob. Benign (0) | 4 | CACNA1C - Long QT syndrome SCN1A - Myoclonic epilepsy of infancy |
| 1896-L | C-terminus | Other Disease (1) | ||
| 1897-R | C-terminus | Arrhythmia (7) | ||
| 1898-R | C-terminus | Arrhythmia (1) | 4 | SCN2A - Autism ? |
| 1901-E | C-terminus | Arrhythmia (3) | 5 | SCN3A - Autism spectrum disorder |
| 1903-V | C-terminus | None | ||
| 1904-S | C-terminus | Arrhythmia (8) | ||
| 1906-M | C-terminus | Prob. Benign (0) | ||
| 1908-I | C-terminus | Prob. Benign (0) | 8 | SCN1A - Myoclonic epilepsy of infancy |
| 1909-Q | C-terminus | Arrhythmia (4) | 8 | SCN1A - Partial epilepsy with febrile seizures plus |
| 1913-R | C-terminus | Arrhythmia (1) | 8 | CACNA1A - Epilepsy, idiopathic SCN10A - Brugada syndrome SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus |
| 1914-R | C-terminus | Prob. Benign (0) | 8 | SCN1A - Myoclonic epilepsy of infancy SCN2A - Epilepsy, idiopathic generalised ? |
| 1915-H | C-terminus | Prob. Benign (1) | ||
| 1917-L | C-terminus | Prob. Benign (0) | ||
| 1918-Q | C-terminus | None | ||
| 1919-R | C-terminus | Prob. Benign (2) | 6 | SCN10A - Brugada syndrome |
| 1920-S | C-terminus | Prob. Benign (0) | ||
| 1923-H | C-terminus | Prob. Benign (0) | 3 | SCN1A - Generalised epilepsy with febrile seizures plus 2 |
| 1924-A | C-terminus | Arrhythmia (6) | ||
| 1929-R | C-terminus | Prob. Benign (0) | 2 | CACNA1S - Hypokalaemic periodic paralysis with malignant hyp |
| 1932-A | C-terminus | Prob. Benign (0) | ||
| 1933-G | C-terminus | Prob. Benign (0) | ||
| 1934-S | C-terminus | None | ||
| 1935-G | C-terminus | Arrhythmia (3) | ||
| 1937-S | C-terminus | Prob. Benign (0) | ||
| 1938-E | C-terminus | Arrhythmia (3) | ||
| 1942-P | C-terminus | Prob. Benign (0) | ||
| 1944-R | C-terminus | Prob. Benign (0) | ||
| 1948-I | C-terminus | Prob. Benign (0) | ||
| 1949-A | C-terminus | Arrhythmia (2) | ||
| 1950-Y | C-terminus | Prob. Benign (0) | ||
| 1951-V | C-terminus | Conflict (22) | ||
| 1954-E | C-terminus | Arrhythmia (1) | ||
| 1957-S | C-terminus | Prob. Benign (0) | ||
| 1958-R | C-terminus | Arrhythmia (5) | ||
| 1962-P | C-terminus | Prob. Benign (3) | ||
| 1963-P | C-terminus | Prob. Benign (0) | ||
| 1964-S | C-terminus | Arrhythmia (2) | ||
| 1965-S | C-terminus | Prob. Benign (0) | ||
| 1968-I | C-terminus | Arrhythmia (6) | ||
| 1969-S | C-terminus | Prob. Benign (0) | 1 | SCN1A - Acute encephalopathy |
| 1973-F | C-terminus | Prob. Benign (0) | ||
| 1977-Y | C-terminus | Arrhythmia (2) | ||
| 1979-S | C-terminus | None | 1 | SCN1A - Epilepsy-aphasia with febrile seizures plus |
| 1980-V | C-terminus | Prob. Benign (0) | ||
| 1981-T | C-terminus | Prob. Benign (0) | ||
| 1982-R | C-terminus | Prob. Benign (0) | ||
| 1983-A | C-terminus | Prob. Benign (0) | ||
| 1984-T | C-terminus | Prob. Benign (0) | ||
| 1986-D | C-terminus | Prob. Benign (0) | ||
| 1987-N | C-terminus | Arrhythmia (2) | ||
| 1988-L | C-terminus | Arrhythmia (2) | ||
| 1990-V | C-terminus | Prob. Benign (1) | ||
| 1991-R | C-terminus | Arrhythmia (4) | ||
| 1992-G | C-terminus | Prob. Benign (0) | ||
| 1997-H | C-terminus | Prob. Benign (0) | ||
| 2000-D | C-terminus | Prob. Benign (0) | ||
| 2002-A | C-terminus | Prob. Benign (0) | ||
| 2003-D | C-terminus | Other Cardiac (1) | ||
| 2004-F | C-terminus | Conflict (14) | ||
| 2005-P | C-terminus | Prob. Benign (3) | ||
| 2006-P | C-terminus | Conflict (21) | ||
| 2008-P | C-terminus | Prob. Benign (0) | 3 | CACNA1C - Brugada syndrome (shorter-than-normal QT interval) |
| 2009-D | C-terminus | Prob. Benign (0) | ||
| 2010-R | C-terminus | Prob. Benign (0) | ||
| 2011-D | C-terminus | None | ||
| 2012-R | C-terminus | Arrhythmia (2) |