CACNA1C Paralogue Annotation
This page details the annotation of CACNA1C with disease causing variants in the following paralogues: SCN5A, SCN1A, SCN9A, CACNA1F, SCN4A, CACNA1A, CACNA1H, SCN2A, CACNA1S, SCN3A, CACNA1G, SCN8A, SCN10A, CACNA1D, CACNA1E, SCN11A, CACNA1I. Click here to see the multiple sequence alignment of CACNA1C with all paralogues.
The paralogue variant mappings to CACNA1C are based on the Locus Reference Genomic entry for CACNA1C - LRG_334. This is based on the transcript ENST00000399655 and protein ENSP00000382563 (2138 amino acids) for the Ensembl gene ENSG00000151067.
- Paralogue Annotations
- Known CACNA1C Variants
- All Variants and Paralogue Annotations
Amino acid residues of CACNA1C with known missense variants or mapped disease-causing missense variants from paralogues are shown below, along with details about the CACNA1C protein domain and known missense variant status for these residues (the number of published reports for the residue is in parentheses), 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 CACNA1C variants and the mapped paralogue variants.
| Residue | Domain | Known Variant Status | Consensus | Mapped Paralogues and Variant Disease |
|---|---|---|---|---|
| 1-M | N-terminus | Prob. Benign (0) | ||
| 3-N | N-terminus | Prob. Benign (0) | ||
| 4-E | N-terminus | None | 3 | SCN1A - Dravet syndrome, Dravet syndrome C ? SCN5A - Brugada syndrome |
| 5-N | N-terminus | None | ||
| 6-T | N-terminus | None | 5 | SCN5A - Brugada syndrome |
| 7-R | N-terminus | Prob. Benign (0) | ||
| 12-E | N-terminus | Prob. Benign (0) | ||
| 13-E | N-terminus | Prob. Benign (0) | ||
| 17-G | N-terminus | Prob. Benign (0) | ||
| 22-S | N-terminus | Prob. Benign (0) | ||
| 23-P | N-terminus | None | 3 | SCN5A - Long QT syndrome |
| 24-R | N-terminus | Prob. Benign (0) | 3 | SCN10A - Brugada syndrome |
| 26-A | N-terminus | Prob. Benign (0) | ||
| 27-H | N-terminus | Prob. Benign (0) | 3 | SCN1A - Dravet syndrome |
| 28-A | N-terminus | Arrhythmia (1) | ||
| 30-M | N-terminus | Prob. Benign (0) | 3 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 31-N | N-terminus | Prob. Benign (0) | 2 | SCN1A - Generalized epilepsy with febrile seizures plus SCN2A - Autism spectrum disorder SCN5A - Brugada syndrome |
| 32-A | N-terminus | None | 2 | SCN5A - Brugada syndrome |
| 33-N | N-terminus | None | ||
| 34-A | N-terminus | Other Cardiac (1) | ||
| 36-A | N-terminus | Prob. Benign (0) | ||
| 37-G | N-terminus | Conflict (1) | ||
| 39-A | N-terminus | Arrhythmia (4) | 1 | SCN5A - Arrhythmia, lidocaine-induced, Brugada syndrome |
| 41-E | N-terminus | None | 2 | SCN1A - Epilepsy ? SCN5A - Long QT syndrome |
| 45-T | N-terminus | Prob. Benign (0) | 2 | SCN5A - Long QT syndrome |
| 46-P | N-terminus | Prob. Benign (0) | 2 | SCN5A - Long QT syndrome |
| 48-A | N-terminus | Prob. Benign (0) | ||
| 50-L | N-terminus | None | 2 | SCN8A - Intellectual disability and epilepsy |
| 52-W | N-terminus | None | ||
| 54-A | N-terminus | None | 3 | SCN1A - Dravet syndrome |
| 57-D | N-terminus | Prob. Benign (0) | 3 | SCN1A - Dravet syndrome |
| 59-A | N-terminus | None | 2 | SCN1A - Dravet syndrome |
| 60-R | N-terminus | None | 3 | SCN9A - Febrile seizures |
| 63-K | N-terminus | None | 2 | SCN5A - Brugada syndrome |
| 64-L | N-terminus | None | 2 | SCN1A - Dravet syndrome B ? |
| 65-M | N-terminus | None | 2 | SCN4A - Myotonic dystrophy, type 2 |
| 68-A | N-terminus | Prob. Benign (0) | ||
| 70-N | N-terminus | None | 3 | SCN1A - Myoclonic epilepsy of infancy |
| 71-A | N-terminus | Prob. Benign (0) | ||
| 73-I | N-terminus | Prob. Benign (0) | ||
| 74-S | N-terminus | None | 3 | SCN1A - Myoclonic epilepsy of infancy |
| 75-T | N-terminus | None | 3 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 77-S | N-terminus | Prob. Benign (0) | 3 | SCN1A - Dravet syndrome SCN5A - Brugada syndrome |
| 79-T | N-terminus | Prob. Benign (0) | ||
| 81-R | N-terminus | Prob. Benign (0) | ||
| 83-R | N-terminus | Prob. Benign (0) | ||
| 84-Q | N-terminus | Prob. Benign (0) | ||
| 86-Y | N-terminus | Prob. Benign (0) | 5 | SCN1A - Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 87-G | N-terminus | None | 5 | SCN1A - Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 88-K | N-terminus | None | 4 | SCN10A - Atrial fibrillation SCN5A - Brugada syndrome |
| 89-P | N-terminus | None | 4 | SCN1A - Dravet syndrome |
| 92-Q | N-terminus | Prob. Benign (0) | ||
| 94-S | N-terminus | None | 6 | SCN1A - Dravet syndrome C ? |
| 95-T | N-terminus | Prob. Benign (0) | 6 | SCN5A - Long QT syndrome and generalized epilepsy |
| 97-A | N-terminus | None | 7 | SCN1A - Myoclonic epilepsy of infancy SCN4A - Myopathy, congenital SCN5A - Brugada syndrome, Long QT syndrome |
| 99-R | N-terminus | Prob. Benign (0) | 8 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 100-P | N-terminus | None | 8 | SCN1A - Dravet syndrome |
| 101-P | N-terminus | None | 8 | SCN1A - Myoclonic epilepsy of infancy |
| 102-R | N-terminus | None | 8 | CACNA1F - Night blindness, congenital stationary 2 SCN1A - Dravet syndrome SCN5A - Brugada syndrome |
| 103-A | N-terminus | None | 9 | SCN5A - Long QT syndrome |
| 104-L | N-terminus | None | 9 | SCN1A - Dravet syndrome, Epilepsy ? |
| 105-L | N-terminus | Prob. Benign (0) | ||
| 106-C | N-terminus | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN5A - Long QT syndrome |
| 108-T | N-terminus | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN5A - Long QT syndrome |
| 109-L | N-terminus | None | 9 | SCN1A - Dravet syndrome |
| 114-R | N-terminus | Prob. Benign (0) | 9 | CACNA1F - Congenital stationary night blindness, Night blindness, congenital stationary, incomplete SCN1A - Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 117-C | N-terminus | None | 9 | SCN5A - Brugada syndrome |
| 118-I | N-terminus | None | 9 | SCN5A - Long QT syndrome SCN9A - Dravet syndrome |
| 119-S | N-terminus | None | 9 | SCN5A - Brugada syndrome |
| 120-I | N-terminus | None | 9 | CACNA1F - Congenital stationary night blindness SCN1A - Dravet syndrome |
| 121-V | N-terminus | None | 9 | SCN4A - Myotonia |
| 123-W | N-terminus | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome B ?, Epilepsy with febrile seizures plus |
| 127-E | TM domain 1 | None | 9 | CACNA1A - Epilepsy of infancy with migrating focal seizures CACNA1F - High myopia SCN2A - Epileptic encephalopathy, early onset |
| 128-I | TM domain 1 | Prob. Benign (0) | ||
| 129-I | TM domain 1 | None | 9 | SCN5A - Brugada syndrome |
| 130-I | TM domain 1 | None | 9 | SCN5A - Arrhythmogenic right ventricular dysplasia |
| 131-L | TM domain 1 | None | 9 | SCN10A - Brugada syndrome SCN2A - Epileptic encephalopathy, early onset SCN5A - Atrial fibrillation |
| 132-L | TM domain 1 | None | 9 | CACNA1F - Congenital stationary night blindness |
| 133-T | TM domain 1 | Prob. Benign (0) | ||
| 134-I | TM domain 1 | None | 9 | SCN1A - Dravet syndrome SCN4A - Myotonia SCN5A - Ventricular arrhythmia, exercise-induced SCN9A - Erythermalgia, primary |
| 136-A | TM domain 1 | Prob. Benign (0) | ||
| 139-V | TM domain 1 | None | 9 | SCN5A - Brugada syndrome |
| 140-A | TM domain 1 | Prob. Benign (0) | ||
| 141-L | TM domain 1 | None | 9 | SCN1A - Dravet syndrome, Febrile seizures |
| 142-A | TM domain 1 | None | 9 | SCN5A - Sudden unexplained death |
| 144-Y | TM domain 1 | Prob. Benign (0) | ||
| 153-N | TM domain 1 | Prob. Benign (0) | ||
| 154-A | TM domain 1 | None | 5 | SCN9A - Febrile seizures |
| 155-T | TM domain 1 | Prob. Benign (0) | ||
| 161-R | TM domain 1 | Prob. Benign (0) | ||
| 163-E | TM domain 1 | None | 7 | SCN5A - Brugada syndrome |
| 164-Y | TM domain 1 | None | 8 | SCN10A - Atrial fibrillation, early-onset |
| 167-L | TM domain 1 | None | 7 | SCN1A - Myoclonic epilepsy of infancy |
| 168-I | TM domain 1 | None | 7 | SCN1A - Dravet syndrome |
| 171-T | TM domain 1 | Other Cardiac (1) | ||
| 173-E | TM domain 1 | None | 9 | CACNA1A - Episodic ataxia 2 SCN2A - Epileptic encephalopathy, early onset |
| 174-A | TM domain 1 | None | ||
| 176-L | TM domain 1 | None | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN2A - Acute encephalopathy with biphasic seizures & late |
| 177-K | TM domain 1 | None | 9 | SCN5A - Brugada syndrome |
| 178-V | TM domain 1 | None | 9 | SCN5A - Long QT syndrome |
| 179-I | TM domain 1 | None | ||
| 180-A | TM domain 1 | None | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 181-Y | TM domain 1 | Prob. Benign (0) | ||
| 182-G | TM domain 1 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 183-L | TM domain 1 | None | 9 | SCN1A - Intractable epilepsy |
| 184-L | TM domain 1 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 185-F | TM domain 1 | None | 9 | CACNA1H - Epilepsy, childhood absence |
| 187-P | TM domain 1 | Prob. Benign (0) | 9 | SCN5A - Brugada syndrome, Long QT syndrome |
| 188-N | TM domain 1 | None | 9 | CACNA1A - Episodic ataxia 2 |
| 189-A | TM domain 1 | None | 9 | CACNA1F - Night blindness, congenital stationary 2 SCN5A - Brugada syndrome |
| 192-R | TM domain 1 | Prob. Benign (0) | 9 | SCN2A - Febrile and afebrile seizures SCN5A - Long QT syndrome SCN9A - Small fibre neuropathy |
| 193-N | TM domain 1 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 194-G | TM domain 1 | Prob. Benign (0) | ||
| 195-W | TM domain 1 | None | 9 | SCN10A - Brugada syndrome SCN1A - Myoclonic epilepsy of infancy |
| 196-N | TM domain 1 | None | 9 | SCN1A - Dravet syndrome |
| 198-L | TM domain 1 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 199-D | TM domain 1 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 204-V | TM domain 1 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 205-V | TM domain 1 | None | 9 | SCN4A - Myopathy, congenital |
| 206-G | TM domain 1 | None | 9 | SCN10A - Brugada syndrome SCN5A - Brugada syndrome |
| 211-I | TM domain 1 | None | 6 | SCN8A - Epileptic encephalopathy |
| 212-L | TM domain 1 | None | 7 | SCN10A - Brugada syndrome SCN2A - Infantile seizures, benign |
| 214-Q | TM domain 1 | None | 6 | SCN5A - Atrial standstill ?, Brugada syndrome |
| 215-A | TM domain 1 | None | 5 | SCN2A - West syndrome with hypotonia SCN8A - Infantile spasms |
| 219-D | TM domain 1 | Prob. Benign (0) | ||
| 222-N | TM domain 1 | Prob. Benign (0) | ||
| 226-G | TM domain 1 | Prob. Benign (0) | ||
| 229-A | TM domain 1 | Prob. Benign (0) | ||
| 232-D | TM domain 1 | Prob. Benign (0) | 8 | SCN2A - Ohtahara syndrome SCN8A - Epileptic encephalopathy |
| 233-V | TM domain 1 | None | 9 | SCN1A - Dravet syndrome SCN2A - Epileptic encephalopathy, early onset SCN8A - Epileptic encephalopathy, infantile |
| 234-K | TM domain 1 | None | 9 | CACNA1A - Episodic ataxia 2, Hemiplegic migraine and episodic ataxia 2 SCN5A - Cardiomyopathy, dilated ? SCN9A - Erythermalgia, primary |
| 235-A | TM domain 1 | Prob. Benign (0) | ||
| 237-R | TM domain 1 | None | 9 | CACNA1A - Hemiplegic migraine SCN11A - Episodic pain syndrome SCN5A - Cardiomyopathy, dilated |
| 238-A | TM domain 1 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN2A - Epilepsy of infancy with migrating focal seizures SCN5A - Nodal rhythm |
| 239-F | TM domain 1 | None | 9 | SCN1A - Generalised epilepsy with febrile seizures plus 2 SCN9A - Erythermalgia, primary |
| 240-R | TM domain 1 | None | 9 | SCN11A - Episodic pain syndrome SCN1A - Dravet syndrome SCN2A - Epileptic encephalopathy SCN4A - Hypokalaemic periodic paralysis SCN5A - Cardiomyopathy, dilated ? SCN8A - Epileptic encephalopathy |
| 241-V | TM domain 1 | None | 9 | SCN1A - Malignant migrating partial seizures in infancy SCN5A - Brugada syndrome, Sudden unexpected death in epilepsy |
| 243-R | TM domain 1 | None | 9 | SCN2A - Neonatal-infantile seizures SCN4A - Myotonia, non-dystrophic SCN5A - Cardiac conduction disease, Cardiomyopathy, multifocal ventricular ectopy-asso, Long QT syndrome |
| 244-P | TM domain 1 | None | 9 | SCN1A - Dravet syndrome SCN5A - Brugada syndrome, Ventricular fibrillation, idiopathic |
| 246-R | TM domain 1 | None | 9 | CACNA1S - Malignant hyperthermia ? SCN1A - Dravet syndrome |
| 247-L | TM domain 1 | None | 9 | CACNA1F - Congenital stationary night blindness SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 248-V | TM domain 1 | None | 9 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome, Cardiac conduction disease |
| 250-G | TM domain 1 | None | 9 | CACNA1H - Autism spectrum disorder ? SCN5A - Brugada syndrome, lidocaine-induced |
| 251-V | TM domain 1 | Prob. Benign (0) | 9 | SCN9A - Dravet syndrome ? |
| 253-S | TM domain 1 | None | 9 | SCN1A - Dravet syndrome |
| 254-L | TM domain 1 | None | 9 | SCN1A - Dravet syndrome C ? |
| 256-V | TM domain 1 | None | 9 | SCN2A - Ohtahara syndrome |
| 257-V | TM domain 1 | None | 9 | SCN5A - Long QT syndrome SCN9A - Erythermalgia, primary |
| 258-L | TM domain 1 | None | 9 | SCN5A - Long QT syndrome |
| 260-S | 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 |
| 261-I | TM domain 1 | Prob. Benign (0) | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 263-K | TM domain 1 | None | 9 | SCN5A - Long QT syndrome |
| 264-A | TM domain 1 | None | 9 | SCN10A - Brugada syndrome SCN1A - Dravet syndrome SCN9A - Erythermalgia, primary |
| 265-M | TM domain 1 | None | 9 | SCN5A - Long QT syndrome |
| 267-P | TM domain 1 | None | 9 | CACNA1A - Hemiplegic migraine |
| 268-L | TM domain 1 | None | 9 | SCN4A - Isolated eyelid closure myotonia SCN9A - Erythermalgia, primary |
| 270-H | TM domain 1 | None | 9 | SCN1A - Dravet syndrome |
| 272-A | TM domain 1 | None | 9 | SCN2A - Neonatal-infantile seizures |
| 273-L | TM domain 1 | None | 9 | SCN1A - Intractable epilepsy, Myoclonic epilepsy of infancy |
| 275-V | TM domain 1 | None | 9 | SCN1A - Febrile seizures plus |
| 277-F | TM domain 1 | None | 9 | SCN8A - Epileptic encephalopathy |
| 278-V | TM domain 1 | None | 9 | SCN1A - Dravet syndrome |
| 280-I | TM domain 1 | None | 9 | SCN1A - Dravet syndrome |
| 281-I | TM domain 1 | None | 9 | SCN2A - Neonatal-infantile seizures |
| 283-A | TM domain 1 | None | 9 | SCN2A - Epileptic encephalopathy, early onset, Neonatal epilepsy, late-onset ataxia, myoclonus & |
| 284-I | TM domain 1 | None | 9 | SCN1A - Hemiplegic migraine and epilepsy SCN4A - Myotonia |
| 285-I | TM domain 1 | None | 9 | SCN5A - Long QT syndrome |
| 286-G | TM domain 1 | None | 9 | CACNA1F - Night blindness, congenital stationary 2 SCN1A - Myoclonic epilepsy of infancy |
| 288-E | TM domain 1 | None | 9 | SCN5A - Brugada syndrome |
| 289-L | TM domain 1 | Prob. Benign (0) | 9 | SCN9A - Febrile seizures |
| 290-F | TM domain 1 | None | 9 | CACNA1A - Episodic ataxia 2 |
| 292-G | TM domain 1 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 293-K | TM domain 1 | None | 9 | SCN5A - Long QT syndrome & atrial fibrillation |
| 294-M | TM domain 1 | None | 9 | SCN5A - Brugada syndrome |
| 295-H | TM domain 1 | None | 9 | CACNA1A - Episodic ataxia 2 |
| 296-K | TM domain 1 | None | 9 | SCN5A - Brugada syndrome |
| 297-T | TM domain 1 | None | 9 | SCN1A - Dravet syndrome |
| 298-C | TM domain 1 | None | 9 | CACNA1A - Episodic ataxia 2 SCN1A - Dravet syndrome SCN5A - Brugada syndrome |
| 299-Y | TM domain 1 | None | 7 | SCN5A - Brugada syndrome |
| 300-N | TM domain 1 | Arrhythmia (1) | 7 | SCN5A - Brugada syndrome |
| 301-Q | TM domain 1 | Prob. Benign (0) | ||
| 302-E | TM domain 1 | None | 6 | SCN1A - Myoclonic epilepsy of infancy |
| 303-G | TM domain 1 | None | 5 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 304-I | TM domain 1 | Benign (0) | ||
| 308-P | TM domain 1 | Prob. Benign (0) | ||
| 309-A | TM domain 1 | None | 3 | SCN3A - Epilepsy |
| 310-E | TM domain 1 | Prob. Benign (0) | 4 | SCN5A - Long QT syndrome |
| 311-D | TM domain 1 | None | 3 | SCN5A - Brugada syndrome |
| 315-P | TM domain 1 | None | 4 | SCN5A - Brugada syndrome |
| 316-C | TM domain 1 | None | 5 | CACNA1A - Paroxysmal tonic upward gaze SCN1A - Dravet syndrome |
| 317-A | TM domain 1 | Prob. Benign (0) | ||
| 318-L | TM domain 1 | Prob. Benign (0) | ||
| 319-E | TM domain 1 | Prob. Benign (0) | ||
| 320-T | TM domain 1 | Prob. Benign (0) | 4 | SCN1A - Dravet syndrome |
| 322-H | TM domain 1 | None | 3 | SCN1A - Dravet syndrome, Dravet syndrome C ? |
| 323-G | TM domain 1 | None | 4 | SCN1A - Myoclonic epilepsy of infancy |
| 324-R | TM domain 1 | None | 2 | CACNA1A - Episodic ataxia 2 |
| 326-C | TM domain 1 | None | 5 | SCN1A - Dravet syndrome, Dravet syndrome C, Dravet syndrome C ?, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 328-N | TM domain 1 | None | 5 | SCN5A - Brugada syndrome |
| 329-G | TM domain 1 | None | ||
| 330-T | TM domain 1 | Prob. Benign (0) | 7 | SCN1A - Dravet syndrome |
| 331-V | TM domain 1 | None | 8 | SCN1A - Dravet syndrome SCN5A - Long QT syndrome |
| 332-C | TM domain 1 | None | 9 | CACNA1A - Episodic ataxia 2 SCN1A - Dravet syndrome |
| 334-P | TM domain 1 | None | 8 | SCN3A - Epilepsy, cryptogenic pediatric partial |
| 336-W | TM domain 1 | None | 8 | SCN1A - Dravet syndrome |
| 337-D | TM domain 1 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN3A - Epilepsy, focal |
| 338-G | TM domain 1 | None | 9 | CACNA1A - Spinocerebellar ataxia 6 SCN1A - Dravet syndrome |
| 339-P | TM domain 1 | None | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN4A - Myopathy, congenital |
| 340-K | TM domain 1 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ? SCN5A - Sick sinus syndrome, autosomal recessive |
| 342-G | TM domain 1 | None | 9 | CACNA1A - Episodic ataxia, global developmental delay, and m CACNA1F - High myopia SCN5A - Brugada syndrome |
| 343-I | TM domain 1 | None | 9 | SCN5A - Early repolarization syndrome |
| 344-T | TM domain 1 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 346-F | TM domain 1 | None | 9 | CACNA1A - Cerebellar ataxia |
| 347-D | TM domain 1 | None | 9 | CACNA1A - Spinocerebellar ataxia 6 SCN1A - Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 355-T | TM domain 1 | None | 9 | SCN1A - Dravet syndrome |
| 358-Q | TM domain 1 | None | 9 | SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus SCN5A - Brugada syndrome, Sudden unexplained nocturnal death syndrome |
| 359-C | TM domain 1 | None | 9 | SCN1A - Dravet syndrome |
| 360-I | TM domain 1 | None | 9 | SCN1A - Dravet syndrome SCN5A - Brugada syndrome |
| 361-T | TM domain 1 | None | 9 | SCN5A - Sudden adult death syndrome |
| 363-E | TM domain 1 | None | 9 | SCN1A - Dravet syndrome, Epilepsy ? |
| 364-G | TM domain 1 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 365-W | TM domain 1 | None | 9 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 366-T | TM domain 1 | None | 9 | SCN1A - Dravet syndrome |
| 367-D | TM domain 1 | None | 8 | SCN5A - Brugada syndrome, Sick sinus syndrome |
| 368-V | TM domain 1 | Prob. Benign (0) | ||
| 369-L | TM domain 1 | None | 8 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 372-V | TM domain 1 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
| 373-N | TM domain 1 | Prob. Benign (0) | ||
| 374-D | TM domain 1 | None | 8 | SCN1A - Myoclonic epilepsy of infancy |
| 376-V | TM domain 1 | Prob. Benign (0) | 8 | SCN1A - Cryptogenic generalised epilepsy |
| 377-G | TM domain 1 | None | 8 | SCN1A - Dravet syndrome SCN5A - Brugada syndrome |
| 378-R | TM domain 1 | Prob. Benign (0) | ||
| 379-D | TM domain 1 | Prob. Benign (0) | ||
| 380-W | TM domain 1 | Prob. Benign (0) | ||
| 381-P | TM domain 1 | None | ||
| 382-W | TM domain 1 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ? |
| 383-I | TM domain 1 | Prob. Benign (0) | ||
| 384-Y | TM domain 1 | Prob. Benign (0) | ||
| 385-F | TM domain 1 | None | 9 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 386-V | TM domain 1 | None | 9 | SCN11A - Painful peripheral neuropathy |
| 387-T | TM domain 1 | Prob. Benign (0) | ||
| 388-L | TM domain 1 | None | 9 | SCN1A - Dravet syndrome SCN5A - Brugada syndrome |
| 389-I | TM domain 1 | Prob. Benign (0) | 9 | SCN5A - Brugada syndrome, Long QT syndrome, Sudden unexpected death in epilepsy |
| 390-I | TM domain 1 | None | 9 | SCN1A - Epilepsy, idiopathic |
| 391-I | TM domain 1 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 392-G | TM domain 1 | None | 9 | CACNA1F - Nightblindness-associated transient tonic downgaze SCN5A - Ventricular fibrillation during acute myocardial i |
| 394-F | TM domain 1 | Prob. Benign (0) | 9 | SCN10A - Brugada syndrome SCN1A - Generalized epilepsy with febrile seizures plus |
| 395-F | TM domain 1 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 396-V | TM domain 1 | Prob. Benign (0) | 9 | SCN10A - Brugada syndrome SCN5A - Long QT syndrome |
| 398-N | TM domain 1 | None | 9 | SCN4A - Myotonia SCN5A - Brugada syndrome, Long QT syndrome SCN9A - Erythermalgia, primary |
| 401-L | TM domain 1 | None | 9 | SCN5A - Long QT syndrome SCN8A - Intellectual disability and epilepsy |
| 402-G | TM domain 1 | Arrhythmia (5) | 9 | CACNA1D - Primary aldosteronism CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Generalized epilepsy with febrile seizures plus SCN8A - Epileptic encephalopathy, early infantile with mov |
| 403-V | TM domain 1 | None | 9 | SCN4A - Myotonia SCN5A - Long QT syndrome SCN9A - Erythermalgia, carbamazepine-responsive |
| 404-L | TM domain 1 | None | 9 | SCN1A - Cryptogenic generalised epilepsy, Dravet syndrome, Epileptic encephalopathy, infantile SCN8A - Epileptic encephalopathy |
| 405-S | TM domain 1 | None | 9 | SCN5A - Long QT syndrome |
| 406-G | Interdomain Linker I-II | Arrhythmia (11) | 9 | CACNA1D - Autism |
| 408-F | Interdomain Linker I-II | None | 9 | CACNA1A - Hemiplegic migraine SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 410-K | Interdomain Linker I-II | None | 9 | SCN2A - Epileptic encephalopathy, early onset, Neonatal-infantile seizures ? SCN4A - Myotonia, non-dystrophic |
| 414-K | Interdomain Linker I-II | None | 9 | SCN1A - Dravet syndrome |
| 418-R | Interdomain Linker I-II | None | ||
| 419-G | Interdomain Linker I-II | Prob. Benign (0) | ||
| 420-D | Interdomain Linker I-II | None | 4 | SCN5A - Atrial fibrillation |
| 425-R | Interdomain Linker I-II | None | 4 | SCN11A - Painful peripheral neuropathy |
| 432-E | Interdomain Linker I-II | None | 3 | CACNA1A - Episodic ataxia 2 SCN5A - Brugada syndrome |
| 433-D | Interdomain Linker I-II | None | 3 | CACNA1A - Episodic ataxia 2 |
| 434-L | Interdomain Linker I-II | Prob. Benign (0) | 3 | CACNA1A - Episodic ataxia 2 |
| 438-L | Interdomain Linker I-II | Prob. Benign (0) | 4 | SCN5A - Atrial fibrillation |
| 439-D | Interdomain Linker I-II | None | 3 | SCN5A - Cardiomyopathy, dilated |
| 448-D | Interdomain Linker I-II | None | ||
| 449-P | Interdomain Linker I-II | None | 2 | CACNA1H - Idiopathic epilepsy, generalised |
| 450-E | Interdomain Linker I-II | Prob. Benign (0) | 2 | CACNA1A - Spinocerebellar ataxia 6 |
| 454-E | Interdomain Linker I-II | Prob. Benign (0) | 3 | SCN5A - Sudden infant death syndrome |
| 456-M | Interdomain Linker I-II | Prob. Benign (0) | 2 | CACNA1A - Episodic ataxia 2 |
| 458-E | Interdomain Linker I-II | None | 2 | CACNA1H - Epilepsy, childhood absence |
| 461-P | Interdomain Linker I-II | Prob. Benign (0) | ||
| 462-R | Interdomain Linker I-II | None | 2 | SCN5A - Long QT syndrome |
| 464-M | Interdomain Linker I-II | None | 3 | SCN5A - Sudden infant death syndrome |
| 466-M | Interdomain Linker I-II | Prob. Benign (0) | 2 | SCN9A - Dravet syndrome |
| 469-S | Interdomain Linker I-II | Prob. Benign (0) | 1 | SCN1A - Myoclonic epilepsy of infancy |
| 470-E | Interdomain Linker I-II | None | 1 | CACNA1H - Epilepsy, childhood absence |
| 472-E | Interdomain Linker I-II | Prob. Benign (0) | 2 | SCN2A - Autism spectrum disorder SCN5A - Brugada syndrome |
| 474-V | Interdomain Linker I-II | Prob. Benign (0) | ||
| 475-N | Interdomain Linker I-II | None | 3 | SCN5A - Long QT syndrome |
| 476-T | Interdomain Linker I-II | None | 3 | SCN5A - Atrial fibrillation |
| 477-E | Interdomain Linker I-II | Prob. Benign (0) | 3 | SCN5A - Brugada syndrome |
| 478-N | Interdomain Linker I-II | None | 3 | SCN5A - Long QT syndrome |
| 479-V | Interdomain Linker I-II | Prob. Benign (0) | ||
| 481-G | Interdomain Linker I-II | None | ||
| 482-G | Interdomain Linker I-II | None | 3 | SCN5A - Brugada syndrome |
| 485-E | Interdomain Linker I-II | Prob. Benign (0) | ||
| 486-G | Interdomain Linker I-II | Prob. Benign (0) | ||
| 487-E | Interdomain Linker I-II | Prob. Benign (0) | ||
| 488-N | Interdomain Linker I-II | None | 3 | SCN5A - Sudden unexplained death |
| 489-C | Interdomain Linker I-II | None | 2 | SCN9A - Dravet syndrome ? |
| 490-G | Interdomain Linker I-II | Arrhythmia (5) | ||
| 491-A | Interdomain Linker I-II | None | 4 | CACNA1A - Episodic ataxia 2 CACNA1H - Epilepsy, childhood absence |
| 493-L | Interdomain Linker I-II | Prob. Benign (0) | ||
| 494-A | Interdomain Linker I-II | None | 3 | SCN1A - Dravet syndrome |
| 495-H | Interdomain Linker I-II | Prob. Benign (0) | ||
| 496-R | Interdomain Linker I-II | Prob. Benign (0) | 3 | SCN5A - Long QT syndrome |
| 498-S | Interdomain Linker I-II | None | 4 | SCN5A - Long QT syndrome |
| 499-K | Interdomain Linker I-II | None | 4 | SCN5A - Long QT syndrome |
| 504-R | Interdomain Linker I-II | Prob. Benign (0) | 6 | CACNA1H - Epilepsy, childhood absence |
| 507-R | Interdomain Linker I-II | Prob. Benign (0) | ||
| 508-R | Interdomain Linker I-II | Prob. Benign (0) | 5 | SCN5A - Long QT syndrome |
| 510-N | Interdomain Linker I-II | None | 6 | SCN1A - Dravet syndrome |
| 511-R | Interdomain Linker I-II | None | 6 | SCN9A - Small fibre neuropathy |
| 514-R | Interdomain Linker I-II | None | 8 | CACNA1A - Epilepsy, idiopathic CACNA1F - Night blindness, congenital stationary, incomplete, Retinitis pigmentosa |
| 515-R | Interdomain Linker I-II | None | 8 | CACNA1H - Epilepsy, childhood absence |
| 516-K | Interdomain Linker I-II | Prob. Benign (0) | 8 | SCN5A - Long QT syndrome |
| 518-R | Interdomain Linker I-II | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome C ? |
| 519-A | Interdomain Linker I-II | Prob. Benign (0) | ||
| 520-A | Interdomain Linker I-II | Prob. Benign (0) | ||
| 524-N | Interdomain Linker I-II | None | 8 | SCN1A - Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 528-W | TM domain 2 | Prob. Benign (0) | ||
| 529-L | TM domain 2 | None | 9 | SCN11A - Painful peripheral neuropathy |
| 530-V | TM domain 2 | Prob. Benign (0) | 9 | SCN10A - Brugada syndrome SCN9A - Febrile seizures ? |
| 534-V | TM domain 2 | None | 9 | SCN4A - Myotonia & periodic paralysis |
| 535-F | TM domain 2 | None | 9 | SCN5A - Brugada syndrome |
| 538-T | TM domain 2 | None | 9 | CACNA1A - Episodic ataxia 2 SCN5A - Long QT syndrome SCN8A - Epileptic encephalopathy |
| 539-L | TM domain 2 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 541-I | TM domain 2 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ? |
| 542-A | TM domain 2 | None | 9 | SCN5A - Brugada syndrome, Sudden unexplained nocturnal death syndrome |
| 544-E | TM domain 2 | None | 9 | SCN1A - Dravet syndrome |
| 546-Y | TM domain 2 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus, Panayiotopoulos syndrome |
| 547-N | TM domain 2 | Arrhythmia (1) | ||
| 549-P | TM domain 2 | None | 9 | SCN1A - Dravet syndrome |
| 550-N | TM domain 2 | Prob. Benign (0) | ||
| 553-T | TM domain 2 | None | 9 | SCN5A - Brugada syndrome |
| 557-D | TM domain 2 | None | 9 | SCN5A - Long QT syndrome |
| 558-T | TM domain 2 | Prob. Benign (0) | ||
| 559-A | TM domain 2 | None | 9 | SCN5A - Brugada syndrome |
| 562-A | TM domain 2 | None | 9 | CACNA1H - Epilepsy, childhood absence |
| 564-L | TM domain 2 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 565-A | TM domain 2 | Prob. Benign (0) | 9 | SCN5A - Brugada syndrome |
| 566-L | TM domain 2 | None | 9 | SCN5A - Long QT syndrome |
| 568-T | TM domain 2 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome B ?, Myoclonic epilepsy of infancy |
| 570-E | TM domain 2 | None | 9 | CACNA1A - Episodic ataxia 2 |
| 571-M | TM domain 2 | None | 9 | SCN5A - Brugada syndrome |
| 577-S | TM domain 2 | Prob. Benign (0) | 9 | CACNA1A - Episodic ataxia |
| 579-G | TM domain 2 | None | 9 | CACNA1H - Epilepsy, childhood absence SCN3A - Epilepsy, focal SCN5A - Long QT syndrome |
| 580-L | TM domain 2 | None | 9 | SCN5A - Brugada syndrome |
| 582-A | TM domain 2 | Arrhythmia (1) | ||
| 583-Y | TM domain 2 | None | 9 | SCN1A - Dravet syndrome |
| 584-F | TM domain 2 | None | 9 | SCN5A - Heart block type 1 |
| 585-V | TM domain 2 | Prob. Benign (0) | ||
| 586-S | TM domain 2 | None | 9 | SCN5A - Long QT syndrome |
| 587-L | TM domain 2 | None | 9 | SCN2A - Neurodevelopmental disorder |
| 590-R | TM domain 2 | Arrhythmia (1) | 9 | CACNA1S - Exertional heat illness, Takotsubo (stress) cardiomyopathy |
| 592-D | TM domain 2 | None | 9 | SCN5A - Brugada syndrome |
| 595-V | TM domain 2 | Prob. Benign (0) | ||
| 596-V | TM domain 2 | Prob. Benign (0) | 6 | SCN5A - Brugada syndrome |
| 598-G | TM domain 2 | None | 5 | CACNA1F - Aland island eye disease & stationary night blindn SCN1A - Dravet syndrome C ? |
| 599-G | TM domain 2 | None | 6 | SCN1A - Dravet syndrome |
| 602-E | TM domain 2 | None | 5 | SCN1A - Dravet syndrome |
| 604-I | TM domain 2 | None | 5 | SCN5A - Long QT syndrome |
| 607-E | TM domain 2 | None | 6 | CACNA1H - Idiopathic epilepsy, generalised SCN5A - Long QT syndrome |
| 608-T | TM domain 2 | Prob. Benign (0) | ||
| 609-K | TM domain 2 | None | 5 | SCN1A - Myoclonic epilepsy of infancy |
| 610-I | TM domain 2 | Prob. Benign (0) | ||
| 618-V | TM domain 2 | Prob. Benign (0) | 9 | CACNA1A - Hemiplegic migraine, Hemiplegic migraine, cerebellar dysfunction & cogn |
| 619-L | TM domain 2 | None | 9 | SCN9A - Erythermalgia, primary |
| 620-R | TM domain 2 | None | 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 SCN5A - Brugada syndrome, Long QT syndrome |
| 622-V | TM domain 2 | Prob. Benign (0) | 9 | SCN4A - Myotonia, non-dystrophic SCN8A - Migrating partial seizures of infancy |
| 623-R | TM domain 2 | None | 9 | SCN1A - Dravet syndrome C ?, Generalized epilepsy with febrile seizures plus, Migrating partial seizures of infancy SCN2A - West syndrome SCN4A - Hypokalaemic periodic paralysis SCN5A - Brugada syndrome |
| 624-L | TM domain 2 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome SCN5A - Brugada syndrome |
| 626-R | TM domain 2 | None | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN2A - Epilepsy of infancy with migrating focal seizures SCN4A - Normokalaemic periodic paralysis SCN5A - Brugada syndrome, Cardiomyopathy, dilated SCN8A - Intellectual disability and epilepsy |
| 628-F | TM domain 2 | None | 9 | SCN5A - Long QT syndrome |
| 629-K | TM domain 2 | Prob. Benign (0) | 9 | SCN5A - Brugada syndrome |
| 630-I | TM domain 2 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 631-T | TM domain 2 | None | 9 | SCN11A - Painful peripheral neuropathy |
| 633-Y | TM domain 2 | None | 9 | SCN1A - Dravet syndrome |
| 634-W | TM domain 2 | None | 9 | SCN5A - Brugada syndrome |
| 636-S | TM domain 2 | None | 9 | SCN1A - Dravet syndrome, Generalised epilepsy with febrile seizures plus 2 |
| 637-L | TM domain 2 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 638-S | TM domain 2 | None | 9 | CACNA1H - Autism spectrum disorder ? |
| 640-L | TM domain 2 | None | 9 | SCN4A - Hyperkalaemic periodic paralysis SCN5A - Long QT syndrome |
| 643-S | TM domain 2 | None | 9 | SCN2A - Epileptic encephalopathy, early infantile with mov |
| 644-L | TM domain 2 | None | 9 | SCN4A - Myotonia & paralytic episodes, Myotonia, sodium channel, Paramyotonia congenita SCN9A - Erythermalgia, primary |
| 645-L | TM domain 2 | None | 9 | CACNA1A - Hemiplegic migraine and chronic headache SCN1A - Dravet syndrome SCN5A - Long QT syndrome |
| 646-N | TM domain 2 | None | 9 | SCN2A - Ohtahara syndrome SCN5A - Long QT syndrome |
| 647-S | TM domain 2 | Prob. Benign (0) | 9 | SCN5A - Brugada syndrome |
| 649-R | TM domain 2 | None | 9 | SCN11A - Painful peripheral neuropathy SCN2A - Epileptic encephalopathy, early infantile |
| 651-I | TM domain 2 | None | 9 | SCN1A - Dravet syndrome C ? SCN5A - Brugada syndrome SCN8A - Lennox-Gastaut syndrome |
| 652-A | TM domain 2 | None | 9 | SCN5A - Long QT syndrome SCN9A - Pain, dysautonomia & acromesomelia |
| 654-L | TM domain 2 | None | 9 | CACNA1A - Paroxysmal head tremor, adult-onset SCN4A - paramyotonia congenita SCN9A - Erythermalgia, primary |
| 655-L | TM domain 2 | None | 9 | SCN4A - Hyperkalaemic periodic paralysis SCN5A - Long QT syndrome |
| 657-L | TM domain 2 | None | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy, borderline |
| 658-L | TM domain 2 | None | 9 | CACNA1A - Episodic ataxia SCN1A - Dravet syndrome SCN5A - Ventricular fibrillation, idiopathic |
| 659-F | TM domain 2 | None | 9 | SCN9A - Erythermalgia, primary |
| 660-L | TM domain 2 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus SCN5A - Long QT syndrome |
| 661-F | TM domain 2 | None | 9 | SCN5A - Sudden unexplained death |
| 662-I | TM domain 2 | None | 9 | SCN2A - Neonatal-infantile seizures |
| 663-I | TM domain 2 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 666-S | TM domain 2 | None | 9 | SCN4A - Myotonia SCN8A - Epileptic encephalopathy |
| 668-L | TM domain 2 | None | 9 | SCN1A - Focal epilepsy SCN4A - Myotonia, non-dystrophic SCN9A - Erythermalgia, primary |
| 669-G | TM domain 2 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 670-M | TM domain 2 | None | 9 | SCN5A - Phenotype modifier |
| 671-Q | TM domain 2 | None | 9 | SCN1A - Dravet syndrome SCN9A - Erythermalgia, primary |
| 675-G | TM domain 2 | None | 9 | CACNA1A - Episodic ataxia 2 SCN2A - Epileptic encephalopathy |
| 678-N | TM domain 2 | None | 7 | SCN10A - Atrial fibrillation & slow ventricular rates |
| 679-F | TM domain 2 | Prob. Benign (0) | 6 | SCN5A - Brugada syndrome |
| 682-M | TM domain 2 | None | 4 | CACNA1I - Schizophrenia SCN10A - Atrial fibrillation SCN1A - Dravet syndrome |
| 686-R | TM domain 2 | None | 8 | SCN1A - Dravet syndrome, Epilepsy ?, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome SCN9A - Congenital indifference to pain |
| 687-S | TM domain 2 | None | 8 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 688-T | TM domain 2 | None | 9 | SCN1A - Dravet syndrome C ? |
| 689-F | TM domain 2 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN9A - Congenital indifference to pain |
| 690-D | TM domain 2 | Prob. Benign (0) | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 691-N | TM domain 2 | None | 9 | SCN1A - Dravet syndrome |
| 692-F | TM domain 2 | None | 9 | SCN2A - Epileptic encephalopathy |
| 694-Q | TM domain 2 | None | 9 | CACNA1H - Autism spectrum disorder ? SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 695-S | TM domain 2 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 697-L | TM domain 2 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 698-T | TM domain 2 | None | 9 | CACNA1S - Malignant hyperthermia SCN1A - Dravet syndrome SCN5A - Brugada syndrome |
| 699-V | TM domain 2 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 700-F | TM domain 2 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 701-Q | TM domain 2 | None | 9 | SCN10A - Brugada syndrome SCN1A - Dravet syndrome, Generalized epilepsy of infancy, Myoclonic epilepsy of infancy SCN2A - Intellectual disability, nonsyndromic SCN5A - Brugada syndrome |
| 703-L | TM domain 2 | None | 9 | CACNA1F - Night blindness, congenital stationary 2 |
| 704-T | TM domain 2 | None | 9 | CACNA1A - Hemiplegic migraine and episodic ataxia 2 SCN1A - Dravet syndrome SCN4A - Myotonia SCN5A - Brugada syndrome |
| 705-G | TM domain 2 | None | 9 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 706-E | TM domain 2 | None | 9 | CACNA1A - Head tremor, Spinocerebellar ataxia 6 |
| 708-W | TM domain 2 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome B, Myoclonic epilepsy of infancy |
| 710-S | TM domain 2 | None | 9 | SCN1A - Dravet syndrome C ? SCN5A - Brugada syndrome |
| 712-M | TM domain 2 | None | 9 | SCN1A - Dravet syndrome C ?, Febrile seizures plus |
| 713-Y | TM domain 2 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 715-G | TM domain 2 | None | 9 | CACNA1H - Idiopathic epilepsy, generalised SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 716-I | TM domain 2 | None | 8 | SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus ?, Myoclonic epilepsy of infancy |
| 720-G | TM domain 2 | None | 5 | SCN5A - Brugada syndrome |
| 726-G | TM domain 2 | None | 7 | SCN5A - Long QT syndrome |
| 728-L | TM domain 2 | None | 9 | SCN9A - Congenital indifference to pain |
| 729-V | TM domain 2 | None | 9 | SCN1A - Dravet syndrome SCN5A - Brugada syndrome |
| 730-C | TM domain 2 | Prob. Benign (0) | ||
| 731-I | TM domain 2 | None | 9 | SCN5A - Brugada syndrome |
| 732-Y | TM domain 2 | None | 9 | SCN4A - Hyperkalaemic periodic paralysis |
| 734-I | TM domain 2 | None | 9 | SCN1A - Cryptogenic generalised epilepsy, Dravet syndrome |
| 736-L | TM domain 2 | None | 9 | SCN8A - Epileptic encephalopathy |
| 737-F | TM domain 2 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 738-I | TM domain 2 | None | 9 | SCN1A - Dravet syndrome |
| 740-G | TM domain 2 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome B ?, Myoclonic epilepsy of infancy |
| 741-N | TM domain 2 | None | 9 | CACNA1F - Night blindness, congenital stationary 2 SCN5A - Brugada syndrome |
| 742-Y | TM domain 2 | None | 9 | SCN5A - Brugada syndrome |
| 743-I | TM domain 2 | None | 9 | SCN1A - Dravet syndrome |
| 744-L | TM domain 2 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 745-L | TM domain 2 | None | ||
| 746-N | TM domain 2 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN2A - Epileptic encephalopathy |
| 747-V | TM domain 2 | None | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 748-F | TM domain 2 | None | 9 | CACNA1E - Epileptic encephalopathy with infantile spasms CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Myoclonic epilepsy of infancy |
| 749-L | TM domain 2 | None | 9 | SCN5A - Brugada syndrome |
| 750-A | TM domain 2 | None | 9 | CACNA1D - Autism SCN11A - Episodic pain syndrome SCN4A - Episodic laryngospasm, severe neonatal |
| 751-I | TM domain 2 | None | 9 | CACNA1A - Episodic seizures, ataxia, and migraine with motor CACNA1D - Primary aldosteronism CACNA1F - Retinal disorder, X-linked SCN1A - Dravet syndrome |
| 752-A | TM domain 2 | None | 9 | CACNA1A - Lennox-Gastaut syndrome |
| 753-V | TM domain 2 | None | 9 | CACNA1A - Hemiplegic migraine and episodic ataxia 2 SCN11A - Congenital indifference to pain |
| 754-D | Interdomain Linker II-III | None | 9 | CACNA1A - Hemiplegic migraine, progressive cerebellar ataxia SCN1A - Dravet syndrome B ? |
| 755-N | Interdomain Linker II-III | None | 9 | SCN4A - Paramyotonia congenita |
| 756-L | Interdomain Linker II-III | None | 9 | SCN1A - Dravet syndrome |
| 757-A | Interdomain Linker II-III | None | 8 | SCN2A - Epileptic encephalopathy, early infantile |
| 760-E | Interdomain Linker II-III | None | 5 | SCN1A - Dravet syndrome |
| 761-S | Interdomain Linker II-III | None | 5 | SCN8A - Intellectual disability and epilepsy |
| 765-A | Interdomain Linker II-III | Prob. Benign (0) | ||
| 766-Q | Interdomain Linker II-III | Prob. Benign (0) | ||
| 769-E | Interdomain Linker II-III | None | 4 | SCN1A - Epilepsy ? |
| 770-E | Interdomain Linker II-III | Prob. Benign (0) | ||
| 771-E | Interdomain Linker II-III | Prob. Benign (1) | 4 | SCN2A - Epileptic encephalopathy, early infantile, Ohtahara syndrome |
| 773-K | Interdomain Linker II-III | None | 4 | SCN2A - Neonatal-infantile seizures |
| 774-E | Interdomain Linker II-III | None | 4 | SCN1A - Myoclonic epilepsy of infancy |
| 775-R | Interdomain Linker II-III | None | 4 | CACNA1S - Exertional heat illness SCN2A - Neonatal-infantile seizures |
| 776-K | Interdomain Linker II-III | None | 4 | SCN5A - Long QT syndrome |
| 778-L | Interdomain Linker II-III | None | 3 | SCN5A - Brugada syndrome, Long QT syndrome |
| 779-A | Interdomain Linker II-III | Prob. Benign (0) | ||
| 782-A | Interdomain Linker II-III | None | 2 | SCN11A - Painful peripheral neuropathy |
| 784-P | Interdomain Linker II-III | Prob. Benign (0) | ||
| 785-E | Interdomain Linker II-III | Prob. Benign (0) | ||
| 788-Q | Interdomain Linker II-III | Prob. Benign (0) | ||
| 790-L | Interdomain Linker II-III | None | 3 | SCN1A - Autism ? SCN5A - Long QT syndrome |
| 791-V | Interdomain Linker II-III | None | 3 | SCN5A - Sudden adult death syndrome |
| 798-E | Interdomain Linker II-III | None | 2 | SCN5A - Brugada syndrome, Sudden infant death syndrome |
| 799-S | Interdomain Linker II-III | Prob. Benign (0) | ||
| 800-K | Interdomain Linker II-III | Prob. Benign (0) | 2 | SCN5A - Cardiac conduction disease |
| 805-E | Interdomain Linker II-III | Prob. Benign (0) | ||
| 808-S | Interdomain Linker II-III | None | 1 | SCN4A - hyperkalemic periodic paralysis |
| 810-T | Interdomain Linker II-III | None | ||
| 813-G | Interdomain Linker II-III | Prob. Benign (0) | ||
| 817-P | Interdomain Linker II-III | Conflict (1) | ||
| 819-T | Interdomain Linker II-III | None | 1 | CACNA1G - Myoclonic epilepsy, juvenile |
| 823-M | Interdomain Linker II-III | None | 2 | SCN4A - paramyotonia congenita |
| 829-N | Interdomain Linker II-III | Prob. Benign (0) | ||
| 834-K | Interdomain Linker II-III | Arrhythmia (1) | ||
| 836-P | Interdomain Linker II-III | Prob. Benign (0) | ||
| 839-N | Interdomain Linker II-III | Prob. Benign (0) | ||
| 840-P | Interdomain Linker II-III | None | 4 | CACNA1F - MRX |
| 845-E | Interdomain Linker II-III | None | 2 | SCN5A - Brugada syndrome |
| 848-E | Interdomain Linker II-III | None | 2 | SCN5A - Long QT syndrome |
| 849-E | Interdomain Linker II-III | Prob. Benign (0) | 2 | CACNA1H - Idiopathic epilepsy, generalised SCN2A - Acute encephalitis with refractory, repetitive par |
| 850-E | Interdomain Linker II-III | Prob. Benign (0) | ||
| 852-E | Interdomain Linker II-III | None | 0 | SCN5A - Negative shift activation |
| 855-V | Interdomain Linker II-III | Prob. Benign (0) | ||
| 856-G | Interdomain Linker II-III | Prob. Benign (0) | ||
| 857-P | Interdomain Linker II-III | Arrhythmia (2) | 1 | SCN5A - Brugada syndrome and epilepsy, Long QT syndrome |
| 858-R | Interdomain Linker II-III | Arrhythmia (3) | ||
| 860-R | Interdomain Linker II-III | Arrhythmia (1) | 1 | SCN10A - Sudden unexplained death |
| 861-P | Interdomain Linker II-III | None | ||
| 862-L | Interdomain Linker II-III | None | 3 | SCN5A - Long QT syndrome |
| 864-E | Interdomain Linker II-III | None | 3 | SCN5A - Brugada syndrome, Long QT syndrome |
| 865-L | Interdomain Linker II-III | Prob. Benign (0) | ||
| 869-E | Interdomain Linker II-III | Prob. Benign (0) | ||
| 870-K | Interdomain Linker II-III | None | 2 | CACNA1H - Epilepsy, childhood absence SCN5A - Long QT syndrome |
| 874-M | Interdomain Linker II-III | None | 3 | SCN5A - Long QT syndrome |
| 877-A | Interdomain Linker II-III | None | 4 | CACNA1F - Cone-rod dystrophy |
| 878-S | Interdomain Linker II-III | None | 4 | SCN5A - Long QT syndrome |
| 879-A | Interdomain Linker II-III | None | 4 | SCN5A - Atrioventricular conduction block |
| 883-F | Interdomain Linker II-III | None | 4 | SCN9A - Dravet syndrome ? |
| 884-S | Interdomain Linker II-III | Prob. Benign (0) | ||
| 886-N | Interdomain Linker II-III | None | 6 | SCN1A - Generalized epilepsy with febrile seizures plus, Generalized epilepsy with febrile seizures plus ?, Myoclonic epilepsy of infancy |
| 888-R | Interdomain Linker II-III | Prob. Benign (0) | 8 | SCN5A - Sudden unexplained nocturnal death syndrome |
| 889-F | Interdomain Linker II-III | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Myoclonic epilepsy of infancy SCN5A - Long QT syndrome & atrial fibrillation |
| 890-R | Interdomain Linker II-III | None | 9 | SCN1A - Dravet syndrome B ? SCN5A - Ventricular tachycardia |
| 892-Q | Interdomain Linker II-III | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 894-H | Interdomain Linker II-III | None | 9 | SCN5A - Long QT syndrome |
| 895-R | Interdomain Linker II-III | None | 9 | SCN1A - Intractable epilepsy, Myoclonic epilepsy of infancy |
| 896-I | Interdomain Linker II-III | None | 9 | SCN1A - Dravet syndrome |
| 899-D | Interdomain Linker II-III | Prob. Benign (0) | ||
| 901-I | TM domain 3 | Prob. Benign (0) | 9 | CACNA1A - Hemiplegic migraine SCN5A - Sudden cardiac death |
| 903-T | TM domain 3 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ? SCN2A - Neonatal-infantile seizures SCN5A - Brugada syndrome, Cardiac conduction disease |
| 912-L | TM domain 3 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus ? |
| 913-S | TM domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 914-S | TM domain 3 | None | 9 | SCN5A - Brugada syndrome |
| 915-I | TM domain 3 | Prob. Benign (0) | 9 | CACNA1S - Takotsubo (stress) cardiomyopathy SCN1A - Myoclonic epilepsy of infancy |
| 916-S | TM domain 3 | None | 9 | SCN5A - Long QT syndrome |
| 918-A | TM domain 3 | None | 9 | SCN1A - Dravet syndrome |
| 920-E | TM domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 921-D | TM domain 3 | None | 9 | SCN1A - Dravet syndrome |
| 923-V | TM domain 3 | None | 7 | SCN5A - Brugada syndrome |
| 925-H | TM domain 3 | None | 7 | SCN5A - Long QT syndrome |
| 926-T | TM domain 3 | None | 7 | SCN1A - Myoclonic epilepsy of infancy SCN5A - Brugada syndrome, Ventricular fibrillation, idiopathic ? |
| 930-N | TM domain 3 | None | 8 | SCN1A - Generalized epilepsy with febrile seizures plus SCN5A - Brugada syndrome, Brugada syndrome ? |
| 931-H | TM domain 3 | None | 8 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 932-I | TM domain 3 | None | ||
| 933-L | TM domain 3 | None | 9 | SCN5A - Brugada syndrome |
| 934-F | TM domain 3 | None | 9 | SCN5A - Brugada syndrome |
| 935-Y | TM domain 3 | None | 9 | SCN1A - Intractable epilepsy SCN5A - Long QT syndrome |
| 936-F | TM domain 3 | None | 9 | SCN1A - Dravet syndrome |
| 937-D | TM domain 3 | None | 9 | SCN4A - Myopathy, congenital SCN5A - Brugada syndrome |
| 938-I | TM domain 3 | Prob. Benign (0) | ||
| 939-V | TM domain 3 | Prob. Benign (0) | ||
| 940-F | TM domain 3 | None | 9 | SCN1A - Dravet syndrome |
| 941-T | TM domain 3 | None | 9 | SCN1A - Dravet syndrome |
| 942-T | TM domain 3 | Prob. Benign (0) | ||
| 943-I | TM domain 3 | None | 9 | SCN5A - Brugada syndrome |
| 944-F | TM domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN5A - Long QT syndrome, drug-associated |
| 946-I | TM domain 3 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 947-E | TM domain 3 | None | 9 | SCN1A - Dravet syndrome C ? SCN5A - Brugada syndrome |
| 951-K | TM domain 3 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus SCN2A - Epileptic encephalopathy, early infantile |
| 954-A | TM domain 3 | None | 9 | SCN1A - Dravet syndrome SCN9A - Congenital indifference to pain |
| 955-Y | TM domain 3 | None | 9 | SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus |
| 956-G | TM domain 3 | None | 9 | CACNA1E - Autism CACNA1F - Night blindness, congenital stationary 2 SCN1A - Dravet syndrome, Epileptic encephalopathy SCN5A - Brugada syndrome |
| 957-A | TM domain 3 | None | 8 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 967-N | TM domain 3 | None | 9 | CACNA1F - Congenital stationary night blindness SCN5A - Brugada syndrome |
| 969-F | TM domain 3 | None | 9 | SCN1A - Dravet syndrome SCN5A - Brugada syndrome |
| 970-N | TM domain 3 | None | 9 | CACNA1F - Congenital stationary night blindness |
| 972-L | TM domain 3 | None | 9 | SCN1A - Dravet syndrome |
| 973-D | TM domain 3 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Dravet syndrome C ? SCN5A - Atrial standstill |
| 976-V | TM domain 3 | Prob. Benign (0) | 9 | SCN10A - Brugada syndrome SCN5A - Long QT syndrome |
| 977-V | TM domain 3 | None | 9 | CACNA1S - Hypokalaemic periodic paralysis SCN2A - Schizophrenia SCN5A - Cardiomyopathy, dilated |
| 979-V | TM domain 3 | None | 9 | SCN5A - Brugada syndrome ? |
| 981-L | TM domain 3 | None | 9 | SCN5A - Long QT syndrome |
| 983-S | TM domain 3 | None | 9 | SCN5A - Sudden unexplained death |
| 984-F | TM domain 3 | Prob. Benign (0) | ||
| 986-I | TM domain 3 | Prob. Benign (0) | 7 | SCN9A - Dravet syndrome ? |
| 987-Q | TM domain 3 | None | 7 | CACNA1A - Hemiplegic migraine |
| 988-S | TM domain 3 | None | 8 | SCN5A - Brugada syndrome |
| 990-A | TM domain 3 | None | 8 | CACNA1A - Cerebellar ataxia SCN1A - Febrile seizures SCN5A - Long QT syndrome |
| 991-I | TM domain 3 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 993-V | TM domain 3 | None | 9 | SCN5A - Nodal rhythm |
| 994-V | TM domain 3 | Prob. Benign (0) | ||
| 995-K | TM domain 3 | None | 9 | SCN1A - Dravet syndrome SCN4A - Normokalaemic periodic paralysis with involuntary |
| 998-R | TM domain 3 | None | 9 | CACNA1A - Hemiplegic migraine, progressive cerebellar ataxia CACNA1S - Hypokalaemic periodic paralysis SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN4A - Periodic paralysis |
| 999-V | TM domain 3 | None | 9 | SCN5A - Long QT syndrome |
| 1000-L | TM domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1001-R | TM domain 3 | None | 9 | CACNA1A - Ataxia, mental retardation and dyskinesia CACNA1S - Hypokalaemic periodic paralysis SCN4A - Hypokalaemic periodic paralysis |
| 1002-V | TM domain 3 | None | 9 | CACNA1A - Paroxysmal tonic upward gaze SCN1A - Dravet syndrome B ? |
| 1003-L | TM domain 3 | None | 9 | SCN5A - Brugada syndrome, lidocaine-induced |
| 1004-R | TM domain 3 | None | 9 | SCN1A - Dravet syndrome SCN2A - Neonatal-infantile seizures SCN4A - Hyperkalaemic periodic paralysis, Hypokalaemic periodic paralysis SCN5A - Atrial and ventricular arrhythmia |
| 1005-P | TM domain 3 | None | 9 | CACNA1A - Hypotonia and developmental delay SCN1A - Dravet syndrome |
| 1006-L | TM domain 3 | None | 9 | SCN5A - Brugada syndrome |
| 1007-R | TM domain 3 | None | 9 | SCN1A - Intractable epilepsy |
| 1008-A | TM domain 3 | None | 9 | SCN1A - Dravet syndrome, Epilepsy-aphasia, Myoclonic epilepsy of infancy |
| 1009-I | TM domain 3 | None | 9 | SCN11A - Painful peripheral neuropathy |
| 1010-N | TM domain 3 | None | 9 | SCN1A - Dravet syndrome |
| 1011-R | TM domain 3 | None | 9 | CACNA1A - Episodic ataxia 2 SCN2A - Neonatal-infantile seizures SCN5A - Sudden unexplained death |
| 1013-K | TM domain 3 | None | 9 | SCN2A - Seizures, benign infantile |
| 1014-G | TM domain 3 | None | 9 | SCN5A - Brugada syndrome |
| 1015-L | TM domain 3 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus SCN2A - Ohtahara syndrome |
| 1016-K | TM domain 3 | None | 9 | SCN10A - Brugada syndrome |
| 1017-H | TM domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN8A - Epileptic encephalopathy, infantile SCN9A - Paroxysmal extreme pain disorder |
| 1018-V | TM domain 3 | None | 9 | SCN2A - Migrating focal seizures of infancy, Ohtahara syndrome SCN4A - Episodic paralyses and myotonic discharges SCN5A - Brugada syndrome SCN9A - Paroxysmal extreme pain disorder |
| 1019-V | TM domain 3 | None | 9 | CACNA1A - Nystagmus and late-onset ataxia |
| 1020-Q | TM domain 3 | None | 9 | SCN1A - Dravet syndrome SCN5A - Long QT syndrome |
| 1021-C | TM domain 3 | None | 9 | CACNA1A - Hemiplegic migraine SCN1A - Myoclonic epilepsy of infancy SCN4A - Paramyotonia congenita SCN5A - Long QT syndrome |
| 1022-V | TM domain 3 | Prob. Benign (0) | 9 | SCN2A - Neonatal-infantile seizures |
| 1024-V | TM domain 3 | None | 9 | SCN5A - Long QT syndrome |
| 1025-A | TM domain 3 | Prob. Benign (0) | 9 | CACNA1A - Encephalopathy, epileptic SCN4A - Paramyotonia congenita SCN5A - Long QT syndrome SCN8A - Epileptic encephalopathy, infantile |
| 1026-I | TM domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1027-R | TM domain 3 | Prob. Benign (0) | 9 | SCN1A - Epilepsy of infancy with migrating focal seizures, Epileptic encephalopathy, early onset SCN4A - Hypokalaemic periodic paralysis, Myotonia SCN5A - Long QT syndrome SCN9A - Erythermalgia, primary |
| 1028-T | TM domain 3 | None | 9 | SCN2A - Ohtahara syndrome SCN5A - Long QT syndrome |
| 1029-I | TM domain 3 | None | 9 | SCN4A - Hyperkalaemic periodic paralysis SCN5A - Long QT syndrome SCN8A - Epileptic encephalopathy, multiple congenital anom |
| 1030-G | TM domain 3 | None | 9 | SCN1A - Dravet syndrome SCN2A - Ohtahara syndrome |
| 1032-I | TM domain 3 | None | 9 | SCN1A - Dravet syndrome C ? |
| 1033-V | TM domain 3 | None | 9 | SCN2A - Autism spectrum disorder SCN5A - Long QT syndrome SCN8A - Epileptic encephalopathy |
| 1034-I | TM domain 3 | None | 9 | SCN1A - Dravet syndrome SCN2A - Epileptic encephalopathy |
| 1035-V | TM domain 3 | None | 9 | SCN11A - Cold-aggravated peripheral pain SCN1A - Generalized epilepsy with febrile seizures plus SCN5A - Brugada syndrome SCN9A - Erythermalgia, primary |
| 1036-T | TM domain 3 | None | 9 | CACNA1A - Hemiplegic migraine, coma, cerebellar atrophy SCN1A - Dravet syndrome |
| 1037-T | TM domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN5A - Cardiomyopathy, right ventricular |
| 1039-L | TM domain 3 | None | 9 | SCN1A - Intractable epilepsy SCN5A - Brugada syndrome |
| 1040-Q | TM domain 3 | None | 9 | SCN1A - Dravet syndrome C, Dravet syndrome C ?, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 1041-F | TM domain 3 | None | 9 | SCN5A - Brugada syndrome |
| 1043-F | TM domain 3 | Prob. Benign (0) | ||
| 1044-A | TM domain 3 | None | 9 | CACNA1F - Cone-rod dystrophy SCN1A - Dravet syndrome |
| 1045-C | TM domain 3 | None | 9 | SCN1A - Dravet syndrome SCN5A - Brugada syndrome |
| 1046-I | TM domain 3 | Prob. Benign (0) | 9 | SCN5A - Brugada syndrome |
| 1047-G | TM domain 3 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN10A - Brugada syndrome |
| 1048-V | TM domain 3 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus SCN5A - Brugada syndrome |
| 1049-Q | TM domain 3 | None | 9 | SCN1A - Dravet syndrome SCN4A - Myotonia, neonatal-onset |
| 1052-K | TM domain 3 | None | 9 | SCN10A - Peripheral neuropathy, painful SCN1A - Dravet syndrome B ? SCN5A - Long QT syndrome |
| 1053-G | TM domain 3 | None | 9 | SCN1A - Dravet syndrome SCN5A - Brugada syndrome |
| 1054-K | TM domain 3 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus SCN5A - Brugada syndrome |
| 1055-L | TM domain 3 | None | 9 | CACNA1A - Episodic ataxia 2 SCN5A - Brugada syndrome |
| 1058-C | TM domain 3 | None | 9 | SCN1A - Intractable epilepsy SCN5A - Brugada syndrome |
| 1060-D | TM domain 3 | None | 9 | SCN1A - Dravet syndrome C ? SCN5A - Brugada syndrome |
| 1062-S | TM domain 3 | None | 8 | CACNA1H - Epilepsy, childhood absence |
| 1064-Q | TM domain 3 | None | 6 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1066-E | TM domain 3 | None | 6 | SCN3A - Epilepsy, focal |
| 1067-A | TM domain 3 | Prob. Benign (0) | ||
| 1070-K | TM domain 3 | None | 4 | SCN1A - Myoclonic epilepsy of infancy |
| 1074-I | TM domain 3 | None | ||
| 1075-T | TM domain 3 | Prob. Benign (0) | 4 | SCN1A - Generalised epilepsy with febrile seizures plus 2, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 1076-Y | TM domain 3 | None | 5 | SCN1A - Dravet syndrome |
| 1077-K | TM domain 3 | None | 4 | SCN10A - Brugada syndrome SCN5A - Brugada syndrome, Brugada-like ST elevation |
| 1078-D | TM domain 3 | Prob. Benign (0) | 4 | CACNA1I - Schizophrenia SCN1A - Myoclonic epilepsy of infancy |
| 1079-G | TM domain 3 | Prob. Benign (0) | 4 | SCN1A - Dravet syndrome C ? SCN5A - Brugada syndrome |
| 1080-E | TM domain 3 | None | 4 | CACNA1S - Schizophrenia SCN1A - Myoclonic epilepsy of infancy |
| 1081-V | TM domain 3 | None | 5 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy SCN4A - Myopathy, congenital |
| 1085-I | TM domain 3 | Prob. Benign (0) | 3 | SCN10A - Brugada syndrome |
| 1089-R | TM domain 3 | None | 7 | CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Dravet syndrome |
| 1091-W | TM domain 3 | None | 9 | CACNA1A - Epileptic encephalopathy, early onset with progres |
| 1097-D | TM domain 3 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus ?, Myoclonic epilepsy of infancy |
| 1098-F | TM domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1099-D | TM domain 3 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
| 1100-N | TM domain 3 | None | 9 | SCN1A - Dravet syndrome C ? |
| 1101-V | TM domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 1102-L | TM domain 3 | None | 9 | SCN5A - Brugada syndrome |
| 1104-A | TM domain 3 | None | 9 | SCN5A - Brugada syndrome |
| 1105-M | TM domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 1106-M | TM domain 3 | None | 9 | SCN1A - Dravet syndrome C ? |
| 1108-L | TM domain 3 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN5A - Brugada syndrome |
| 1109-F | TM domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1110-T | TM domain 3 | Prob. Benign (0) | 9 | CACNA1S - Malignant hyperthermia SCN1A - Myoclonic epilepsy of infancy |
| 1111-V | TM domain 3 | None | 9 | CACNA1A - Hemiplegic migraine SCN1A - Febrile seizures |
| 1112-S | TM domain 3 | None | 9 | SCN1A - Developmental disorder and intellectual disability, Intractable epilepsy SCN5A - Brugada syndrome |
| 1113-T | TM domain 3 | None | 9 | SCN2A - Autism spectrum disorder |
| 1114-F | TM domain 3 | None | 9 | SCN1A - Dravet syndrome |
| 1115-E | TM domain 3 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome SCN2A - Spasms, infantile, and bitemporal glucose hypometa SCN5A - Brugada syndrome |
| 1116-G | TM domain 3 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ?, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome, Brugada syndrome ? |
| 1117-W | TM domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1120-L | TM domain 3 | None | 9 | SCN1A - Dravet syndrome |
| 1123-R | TM domain 3 | Prob. Benign (0) | 9 | SCN1A - Autism spectrum disorder, Dravet syndrome SCN5A - Brugada syndrome |
| 1124-S | TM domain 3 | None | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome, Long QT syndrome |
| 1125-I | TM domain 3 | None | ||
| 1126-D | TM domain 3 | None | 9 | SCN5A - Brugada-like ST elevation |
| 1128-H | TM domain 3 | None | 9 | SCN10A - Brugada syndrome SCN5A - Brugada syndrome, Long QT syndrome |
| 1129-T | TM domain 3 | Prob. Benign (0) | 9 | SCN5A - Brugada syndrome, Early repolarization syndrome |
| 1131-D | TM domain 3 | Prob. Benign (0) | ||
| 1133-G | TM domain 3 | None | 9 | SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus, Myoclonic epilepsy of infancy |
| 1134-P | TM domain 3 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ?, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 1135-I | TM domain 3 | Prob. Benign (0) | ||
| 1136-Y | TM domain 3 | None | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy, borderline |
| 1137-N | TM domain 3 | None | 9 | CACNA1A - Episodic ataxia 2 SCN1A - Dravet syndrome C ? SCN5A - Brugada syndrome |
| 1139-R | TM domain 3 | Other Disease (1) | 9 | SCN5A - Brugada syndrome |
| 1142-I | TM domain 3 | Prob. Benign (0) | ||
| 1144-I | TM domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 1145-F | TM domain 3 | None | 9 | CACNA1A - Episodic ataxia 2 SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 1146-F | TM domain 3 | None | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1147-I | TM domain 3 | None | 9 | SCN5A - Brugada syndrome |
| 1148-I | TM domain 3 | None | 9 | CACNA1A - Episodic ataxia 2 |
| 1152-I | TM domain 3 | Prob. Benign (0) | ||
| 1153-I | TM domain 3 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy SCN8A - Intellectual disability and epilepsy |
| 1154-A | TM domain 3 | None | 9 | SCN10A - Brugada syndrome SCN1A - Dravet syndrome SCN5A - Long QT syndrome |
| 1155-F | TM domain 3 | None | 9 | SCN1A - Myoclonic epilepsy, borderline |
| 1158-M | TM domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1159-N | TM domain 3 | None | 9 | SCN1A - Dravet syndrome B ? SCN5A - Brugada syndrome |
| 1160-I | TM domain 3 | None | 9 | CACNA1H - Aldosteronism, primary SCN11A - Congenital indifference to pain |
| 1161-F | TM domain 3 | None | 9 | CACNA1A - Hemiplegic migraine |
| 1163-G | TM domain 3 | None | 9 | CACNA1A - Epileptic encephalopathy, early onset SCN1A - Myoclonic-astatic epilepsy SCN2A - Autism spectrum disorder SCN4A - Myotonia, non-dystrophic |
| 1164-F | TM domain 3 | None | 9 | SCN4A - Paramyotonia congenita SCN5A - Brugada syndrome |
| 1166-I | TM domain 3 | Arrhythmia (7) | 9 | SCN1A - Epilepsy ? SCN2A - Neonatal-infantile seizures |
| 1167-V | TM domain 3 | None | 9 | SCN1A - Dravet syndrome |
| 1168-T | TM domain 3 | None | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN4A - Myotonia, non-dystrophic SCN5A - Long QT syndrome SCN8A - Epileptic encephalopathy, infantile |
| 1169-F | TM domain 3 | None | 9 | SCN5A - Long QT syndrome SCN9A - Erythermalgia, primary |
| 1170-Q | TM domain 3 | Prob. Benign (0) | ||
| 1172-Q | TM domain 3 | None | 7 | SCN1A - Hemiplegic migraine, Hemiplegic migraine 2 SCN2A - Epileptic encephalopathy, early infantile SCN5A - Brugada syndrome, Long QT syndrome |
| 1173-G | TM domain 3 | None | 6 | SCN5A - Long QT syndrome |
| 1174-E | TM domain 3 | None | 5 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 1177-Y | TM domain 3 | None | 5 | SCN1A - Hemiplegic migraine SCN5A - Brugada syndrome SCN8A - Epileptic encephalopathy SCN9A - Paroxysmal extreme pain disorder |
| 1178-K | TM domain 3 | None | 6 | SCN1A - Hemiplegic migraine 2 SCN5A - Sudden adult death syndrome SCN9A - Paroxysmal extreme pain disorder |
| 1179-N | TM domain 3 | None | 5 | SCN1A - Hemiplegic migraine 3 SCN5A - Long QT syndrome |
| 1180-C | TM domain 3 | None | 5 | SCN4A - Hyperkalaemic periodic paralysis, Paramyotonia congenita SCN5A - Long QT syndrome SCN9A - Paroxysmal extreme pain disorder |
| 1181-E | TM domain 3 | None | 5 | SCN5A - Long QT syndrome SCN8A - Infantile seizures, benign and paroxysmal dyskines |
| 1182-L | TM domain 3 | None | 3 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1185-N | TM domain 3 | None | 3 | SCN5A - Atrial fibrillation |
| 1186-Q | TM domain 3 | None | 3 | SCN5A - Brugada syndrome |
| 1187-R | Interdomain Linker III-IV | Prob. Benign (0) | 3 | CACNA1S - Hypokalaemic periodic paralysis, Malignant hyperthermia SCN5A - Long QT syndrome |
| 1189-C | Interdomain Linker III-IV | None | 3 | CACNA1A - Hemiplegic migraine SCN1A - Lennox-Gastaut syndrome |
| 1190-V | Interdomain Linker III-IV | None | 3 | SCN1A - Intractable epilepsy SCN5A - Long QT syndrome, Sick sinus syndrome |
| 1193-A | Interdomain Linker III-IV | None | 3 | CACNA1F - Night blindness, congenital stationary, incomplete SCN5A - Brugada syndrome |
| 1194-L | Interdomain Linker III-IV | None | 3 | SCN1A - Dravet syndrome SCN5A - Long QT syndrome |
| 1195-K | Interdomain Linker III-IV | None | 3 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN5A - Long QT syndrome ? |
| 1197-R | Interdomain Linker III-IV | None | 5 | SCN5A - Long QT syndrome |
| 1198-P | Interdomain Linker III-IV | None | 4 | SCN1A - Dravet syndrome SCN5A - Brugada syndrome |
| 1200-R | Interdomain Linker III-IV | Prob. Benign (0) | ||
| 1203-I | Interdomain Linker III-IV | None | 5 | SCN1A - Dravet syndrome |
| 1205-K | Interdomain Linker III-IV | Prob. Benign (0) | 5 | SCN4A - Myotonia, sodium channel SCN5A - Brugada syndrome |
| 1208-H | Interdomain Linker III-IV | None | 6 | CACNA1H - Idiopathic epilepsy, generalised |
| 1209-Q | Interdomain Linker III-IV | Prob. Benign (0) | ||
| 1210-Y | Interdomain Linker III-IV | None | 9 | SCN2A - Epileptic encephalopathy |
| 1211-K | Interdomain Linker III-IV | None | 9 | SCN5A - Cardiomyopathy, dilated |
| 1212-V | Interdomain Linker III-IV | None | 9 | SCN5A - Brugada syndrome |
| 1213-W | Interdomain Linker III-IV | None | 9 | SCN5A - Long QT syndrome 3 |
| 1215-V | Interdomain Linker III-IV | Prob. Benign (0) | ||
| 1216-V | Interdomain Linker III-IV | None | 9 | SCN1A - Dravet syndrome SCN5A - Brugada syndrome |
| 1217-N | Interdomain Linker III-IV | None | 9 | SCN1A - Dravet syndrome |
| 1219-T | Interdomain Linker III-IV | None | 9 | SCN2A - Seizures, benign infantile |
| 1221-F | Interdomain Linker III-IV | None | 9 | SCN1A - Cryptogenic focal epilepsy |
| 1222-E | Interdomain Linker III-IV | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ? |
| 1223-Y | Interdomain Linker III-IV | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN5A - Long QT syndrome |
| 1226-F | Interdomain Linker III-IV | Prob. Benign (0) | 9 | SCN4A - Hyperkalaemic periodic paralysis |
| 1227-V | Interdomain Linker III-IV | Prob. Benign (0) | ||
| 1229-I | Interdomain Linker III-IV | None | 9 | SCN4A - Paramyotonia congenita |
| 1230-L | Interdomain Linker III-IV | None | 9 | SCN1A - Dravet syndrome |
| 1231-L | Interdomain Linker III-IV | Prob. Benign (0) | ||
| 1233-T | Interdomain Linker III-IV | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1234-I | Interdomain Linker III-IV | Prob. Benign (0) | 9 | SCN5A - Cardiomyopathy, dilated |
| 1235-C | Interdomain Linker III-IV | Prob. Benign (0) | 9 | SCN5A - Long QT syndrome |
| 1236-L | Interdomain Linker III-IV | None | 9 | SCN4A - Hyperkalaemic periodic paralysis |
| 1239-Q | Interdomain Linker III-IV | None | 9 | SCN1A - Dravet syndrome SCN5A - Brugada syndrome |
| 1244-S | TM domain 4 | None | 9 | SCN5A - Brugada syndrome |
| 1247-F | TM domain 4 | Prob. Benign (0) | 9 | SCN9A - Small fibre neuropathy |
| 1249-I | TM domain 4 | Prob. Benign (0) | ||
| 1250-A | TM domain 4 | Prob. Benign (0) | ||
| 1251-M | TM domain 4 | None | 9 | SCN2A - Neonatal-infantile seizures SCN5A - Long QT syndrome |
| 1253-I | TM domain 4 | None | 9 | SCN1A - Rasmussen encephalitis SCN9A - Chronic non-paroxysmal neuropathic pain |
| 1254-L | TM domain 4 | None | 9 | SCN1A - Phenotype modifier |
| 1257-L | TM domain 4 | None | 9 | SCN1A - Dravet syndrome |
| 1259-T | TM domain 4 | None | 9 | SCN4A - Paramyotonia congenita |
| 1261-L | TM domain 4 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 1262-F | TM domain 4 | None | 9 | SCN5A - Brugada syndrome |
| 1264-V | TM domain 4 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
| 1265-E | TM domain 4 | None | 9 | SCN5A - Brugada syndrome |
| 1266-M | TM domain 4 | None | 9 | SCN10A - Atrial fibrillation SCN1A - Myoclonic epilepsy of infancy |
| 1267-I | TM domain 4 | None | 9 | SCN1A - Dravet syndrome |
| 1269-K | TM domain 4 | None | 9 | SCN5A - Sinus node dysfunction and atrial flutter |
| 1270-L | TM domain 4 | None | 9 | SCN1A - Dravet syndrome B ?, Dravet syndrome C ? |
| 1271-I | TM domain 4 | Prob. Benign (0) | ||
| 1273-F | TM domain 4 | None | 9 | SCN5A - Brugada syndrome |
| 1274-K | TM domain 4 | None | 9 | SCN1A - Cryptogenic focal epilepsy, Dravet syndrome, Generalized epilepsy with febrile seizures plus ? SCN5A - Brugada syndrome |
| 1276-K | TM domain 4 | None | 8 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1277-H | TM domain 4 | Prob. Benign (0) | 9 | CACNA1H - Epilepsy with auditory features |
| 1278-Y | TM domain 4 | None | 9 | SCN2A - Neonatal-infantile seizures, benign familial |
| 1280-C | TM domain 4 | Prob. Benign (0) | ||
| 1282-A | TM domain 4 | None | 9 | SCN2A - Epilepsy of infancy with migrating focal seizures |
| 1284-N | TM domain 4 | None | 9 | SCN1A - Dravet syndrome B ? |
| 1285-T | TM domain 4 | None | 9 | SCN2A - Neonatal-infantile seizures ? SCN5A - Long QT syndrome |
| 1286-F | TM domain 4 | None | 9 | SCN4A - hyperkalemic periodic paralysis SCN5A - Long QT syndrome |
| 1287-D | TM domain 4 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN2A - Intellectual disability, developmental delay, seiz SCN5A - Atrioventricular conduction block, Cardiomyopathy, dilated |
| 1288-A | TM domain 4 | Prob. Benign (0) | 9 | SCN5A - Long QT syndrome |
| 1289-L | TM domain 4 | None | 9 | SCN5A - Long QT syndrome |
| 1290-I | TM domain 4 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN8A - Epileptic encephalopathy |
| 1291-V | TM domain 4 | None | 9 | CACNA1H - Amyotrophic lateral sclerosis SCN1A - Dravet syndrome |
| 1292-V | TM domain 4 | None | ||
| 1294-S | TM domain 4 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN8A - Intellectual disability and epilepsy |
| 1295-I | TM domain 4 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1296-V | TM domain 4 | None | 9 | SCN5A - Brugada syndrome |
| 1298-I | TM domain 4 | None | 9 | SCN1A - Intractable epilepsy |
| 1300-I | TM domain 4 | None | 9 | SCN4A - Hyperkalaemic periodic paralysis |
| 1301-T | TM domain 4 | None | 9 | SCN4A - Myotonia, non-dystrophic SCN5A - Long QT syndrome, Sudden infant death syndrome |
| 1302-E | TM domain 4 | None | ||
| 1303-V | TM domain 4 | None | 9 | SCN1A - Hemiplegic migraine SCN4A - Paramyotonia congenita SCN8A - Epileptic encephalopathy |
| 1305-P | TM domain 4 | None | 4 | SCN5A - Brugada syndrome |
| 1310-Q | TM domain 4 | None | ||
| 1312-S | TM domain 4 | Prob. Benign (0) | ||
| 1315-M | TM domain 4 | Prob. Benign (0) | ||
| 1317-A | TM domain 4 | Prob. Benign (0) | ||
| 1319-E | TM domain 4 | None | 2 | CACNA1H - Idiopathic epilepsy, generalised |
| 1321-S | TM domain 4 | Prob. Benign (0) | ||
| 1322-R | TM domain 4 | None | 6 | SCN5A - Sick sinus syndrome |
| 1323-I | TM domain 4 | None | 5 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy, Myoclonic epilepsy, borderline SCN4A - Congenital myasthenic syndrome ? |
| 1325-I | TM domain 4 | None | 6 | SCN1A - Myoclonic epilepsy of infancy |
| 1326-T | TM domain 4 | None | 7 | SCN2A - Ohtahara syndrome SCN5A - Cardiac conduction disease, Ventricular fibrillation, idiopathic |
| 1329-R | TM domain 4 | None | 6 | CACNA1A - Episodic ataxia 2 CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Lennox-Gastaut syndrome SCN2A - Seizures, benign infantile SCN4A - Myotonia, Paramyotonia congenita SCN5A - Long QT syndrome SCN8A - Intellectual disability, nonsyndromic |
| 1330-L | TM domain 4 | None | 6 | SCN1A - Hepatic coma |
| 1331-F | TM domain 4 | None | 6 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 1332-R | TM domain 4 | None | 6 | CACNA1A - Spinocerebellar ataxia 6 CACNA1S - Hypokalaemic periodic paralysis SCN1A - Dravet syndrome SCN2A - Epileptic encephalopathy, early onset SCN4A - Periodic paralysis SCN5A - Long QT syndrome |
| 1333-V | TM domain 4 | None | 6 | SCN8A - Intellectual disability and epilepsy |
| 1334-M | TM domain 4 | None | 7 | SCN2A - Ohtahara syndrome SCN4A - Paramyotonia congenita, von Eulenburg SCN5A - Long QT syndrome, malignant perinatal variant SCN9A - Paroxysmal extreme pain disorder |
| 1335-R | TM domain 4 | None | 7 | CACNA1A - Hemiplegic migraine with cerebellar signs CACNA1S - Normokalaemic periodic paralysis SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN4A - Congenital myasthenic syndrome SCN5A - Brugada syndrome, atypical, Nodal rhythm |
| 1336-L | TM domain 4 | None | 7 | SCN4A - Paramyotonia congenita |
| 1338-K | TM domain 4 | None | 9 | CACNA1A - Hemiplegic migraine SCN1A - Generalised epilepsy with febrile seizures plus 2, Myoclonic epilepsy of infancy SCN4A - Myotonia |
| 1339-L | TM domain 4 | None | 9 | SCN1A - Hemiplegic migraine SCN4A - Myotonia SCN9A - Paroxysmal extreme pain disorder |
| 1341-S | TM domain 4 | None | 9 | SCN10A - Atrial fibrillation SCN2A - Seizures, benign infantile |
| 1343-G | TM domain 4 | None | 9 | SCN1A - Dravet syndrome B ? |
| 1345-G | TM domain 4 | None | 9 | SCN5A - Brugada syndrome |
| 1346-I | TM domain 4 | None | 9 | SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus |
| 1347-R | TM domain 4 | Prob. Benign (0) | 9 | CACNA1A - Episodic ataxia 2 SCN1A - Cryptogenic focal epilepsy, Generalized epilepsy with febrile seizures plus SCN5A - Brugada syndrome, Long QT syndrome |
| 1348-T | TM domain 4 | None | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN5A - Long QT syndrome |
| 1349-L | TM domain 4 | None | 9 | SCN5A - Long QT syndrome |
| 1350-L | TM domain 4 | None | 9 | CACNA1A - Hemiplegic migraine SCN1A - Dravet syndrome C ? SCN2A - Epileptic encephalopathy, early infantile |
| 1351-W | TM domain 4 | None | 9 | CACNA1A - Hemiplegic migraine with cerebellar signs SCN1A - Hemiplegic migraine, Myoclonic epilepsy of infancy SCN4A - Paramyotonia congenita |
| 1352-T | TM domain 4 | None | 9 | SCN1A - Myoclonic epilepsy, borderline SCN5A - Brugada syndrome |
| 1353-F | TM domain 4 | None | 9 | SCN5A - Long QT syndrome, Sudden unexplained death |
| 1354-I | TM domain 4 | None | 9 | SCN1A - Dravet syndrome SCN4A - Myotonia, Paramyotonia congenita SCN8A - Partial seizures with intellectual / developmental SCN9A - Paroxysmal extreme pain disorder |
| 1355-K | TM domain 4 | None | 9 | SCN5A - Long QT syndrome |
| 1356-S | TM domain 4 | None | 9 | SCN1A - Dravet syndrome |
| 1357-F | TM domain 4 | None | 9 | SCN1A - Dravet syndrome C ? |
| 1358-Q | TM domain 4 | None | 9 | CACNA1S - Myopathy SCN1A - Dravet syndrome, Dravet syndrome B ?, Myoclonic epilepsy of infancy |
| 1359-A | TM domain 4 | None | 9 | SCN1A - Partial seizures of infancy, malignant migrating SCN4A - Myotonia SCN8A - Epileptic encephalopathy, infantile SCN9A - Erythromelalgia, Paroxysmal extreme pain disorder / Erythermalgia, |
| 1360-L | TM domain 4 | None | 9 | SCN2A - Encephalopathy, recurrent |
| 1362-Y | TM domain 4 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ? |
| 1363-V | TM domain 4 | None | 9 | CACNA1A - Hemipl. migraine/alternating hemipl. of childhood, Hemiplegic migraine SCN1A - Dravet syndrome C ?, Generalised epilepsy with febrile seizures plus SCN5A - Long QT syndrome |
| 1364-A | TM domain 4 | None | 9 | SCN1A - Acute encephalopathy with biphasic seizures & late, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 1365-L | TM domain 4 | None | 9 | SCN1A - Dravet syndrome |
| 1367-I | TM domain 4 | None | 9 | SCN1A - Dravet syndrome |
| 1370-L | TM domain 4 | None | 9 | SCN5A - Long QT syndrome |
| 1373-I | TM domain 4 | None | 9 | SCN1A - Dravet syndrome C ?, Epilepsy ? SCN4A - Hyperkalaemic periodic paralysis |
| 1374-Y | TM domain 4 | None | 9 | SCN1A - Dravet syndrome B, Dravet syndrome C ?, Intractable epilepsy |
| 1375-A | TM domain 4 | Prob. Benign (0) | 9 | SCN1A - Febrile seizures, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 1377-I | TM domain 4 | None | 9 | CACNA1A - Hemiplegic migraine SCN1A - Myoclonic epilepsy of infancy |
| 1378-G | TM domain 4 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ? |
| 1382-F | TM domain 4 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1383-G | TM domain 4 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN5A - Sudden adult death syndrome |
| 1384-K | TM domain 4 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1386-A | TM domain 4 | Prob. Benign (0) | ||
| 1389-D | TM domain 4 | Prob. Benign (0) | ||
| 1390-T | TM domain 4 | None | 6 | CACNA1A - Hemiplgic migraine ? SCN5A - Sudden cardiac death |
| 1394-N | TM domain 4 | None | 9 | SCN10A - Painful small fibre neuropathy with gastroparesis SCN1A - Dravet syndrome |
| 1395-R | TM domain 4 | None | 9 | SCN1A - Dravet syndrome SCN5A - Brugada syndrome |
| 1396-N | TM domain 4 | None | 9 | CACNA1A - Episodic ataxia 2 |
| 1399-F | TM domain 4 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1401-T | TM domain 4 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1403-P | TM domain 4 | None | 9 | SCN5A - Brugada syndrome |
| 1405-A | TM domain 4 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1406-V | TM domain 4 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1408-L | TM domain 4 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Myoclonic epilepsy of infancy |
| 1409-L | TM domain 4 | None | 9 | CACNA1A - Episodic ataxia 2 SCN1A - Dravet syndrome |
| 1410-F | TM domain 4 | None | 9 | SCN5A - Sudden infant death syndrome |
| 1411-R | TM domain 4 | None | 9 | CACNA1A - Episodic ataxia 2 SCN5A - Brugada syndrome |
| 1413-A | TM domain 4 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 1414-T | TM domain 4 | None | 9 | SCN1A - Dravet syndrome SCN5A - Brugada syndrome |
| 1415-G | TM domain 4 | None | 9 | CACNA1A - Epilepsy with typical absence seizures SCN5A - Ventricular fibrillation, idiopathic |
| 1416-E | TM domain 4 | None | 9 | CACNA1A - Episodic ataxia 2 SCN1A - Intractable epilepsy |
| 1417-A | TM domain 4 | None | 9 | SCN10A - Small fibre neuropathy SCN1A - Dravet syndrome SCN4A - Essential tremor SCN5A - Brugada syndrome |
| 1418-W | TM domain 4 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1419-Q | TM domain 4 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 1420-D | TM domain 4 | None | 9 | CACNA1F - Usher syndrome ? |
| 1422-M | TM domain 4 | None | 9 | SCN5A - Brugada syndrome |
| 1424-A | TM domain 4 | None | 9 | SCN1A - Dravet syndrome |
| 1427-P | TM domain 4 | None | 7 | SCN5A - Brugada syndrome |
| 1428-G | TM domain 4 | None | 5 | SCN5A - Long QT syndrome |
| 1429-K | TM domain 4 | None | 6 | SCN1A - Generalized epilepsy with febrile seizures plus ? |
| 1430-K | TM domain 4 | Prob. Benign (0) | ||
| 1431-C | TM domain 4 | None | 9 | SCN1A - Dravet syndrome, Lennox-Gastaut syndrome, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 1432-A | TM domain 4 | None | 8 | SCN1A - Dravet syndrome, late-onset, Generalized epilepsy with febrile seizures plus |
| 1434-E | TM domain 4 | None | 7 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1437-P | TM domain 4 | Prob. Benign (0) | ||
| 1439-N | TM domain 4 | None | 3 | SCN1A - Myoclonic epilepsy of infancy |
| 1441-T | TM domain 4 | None | ||
| 1442-E | TM domain 4 | None | 3 | SCN4A - Seizures |
| 1443-G | TM domain 4 | None | 3 | SCN5A - Long QT syndrome |
| 1444-E | TM domain 4 | None | 3 | SCN1A - Dravet syndrome SCN2A - Autism spectrum disorder SCN5A - Brugada syndrome |
| 1445-T | TM domain 4 | None | 3 | SCN1A - Dravet syndrome |
| 1446-P | TM domain 4 | Prob. Benign (0) | ||
| 1447-C | TM domain 4 | None | 5 | SCN1A - Myoclonic epilepsy of infancy SCN9A - Congenital indifference to pain |
| 1448-G | TM domain 4 | None | 5 | SCN1A - Dravet syndrome SCN5A - Brugada syndrome, Brugada syndrome ? |
| 1449-S | TM domain 4 | None | 5 | CACNA1S - Malignant hyperthermia |
| 1450-S | TM domain 4 | None | 7 | SCN5A - Long QT syndrome |
| 1451-F | TM domain 4 | None | 9 | SCN10A - Brugada syndrome SCN5A - Long QT syndrome |
| 1452-A | TM domain 4 | Prob. Benign (0) | 9 | SCN1A - Febrile seizures ?, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 1453-V | TM domain 4 | None | 9 | SCN1A - Dravet syndrome C ? |
| 1455-Y | TM domain 4 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Partial epilepsy with febrile seizures plus |
| 1457-I | TM domain 4 | Prob. Benign (0) | ||
| 1459-F | TM domain 4 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1460-Y | TM domain 4 | None | 9 | SCN10A - Small fibre neuropathy SCN1A - Dravet syndrome B ?, Epilepsy ? |
| 1461-M | TM domain 4 | Prob. Benign (0) | 9 | SCN1A - Cryptogenic focal epilepsy, Dravet syndrome |
| 1462-L | TM domain 4 | None | 9 | SCN5A - Long QT syndrome |
| 1463-C | TM domain 4 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1464-A | TM domain 4 | None | 9 | CACNA1A - Episodic ataxia 2 SCN8A - Epileptic encephalopathy, infantile |
| 1465-F | TM domain 4 | None | 9 | SCN5A - Long QT syndrome |
| 1467-I | TM domain 4 | None | 9 | SCN4A - Myotonia SCN5A - Long QT syndrome SCN9A - Paroxysmal extreme pain disorder |
| 1468-I | TM domain 4 | None | 9 | SCN5A - Brugada syndrome |
| 1469-N | TM domain 4 | None | 9 | SCN10A - Brugada syndrome |
| 1470-L | TM domain 4 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN2A - Epileptic encephalopathy, neonatal SCN4A - Hyperkalaemic periodic paralysis SCN5A - Brugada syndrome, Long QT syndrome |
| 1471-F | TM domain 4 | None | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN5A - Long QT syndrome |
| 1472-V | TM domain 4 | None | 9 | SCN1A - Dravet syndrome SCN5A - Long QT syndrome |
| 1473-A | TM domain 4 | Arrhythmia (1) | 9 | SCN1A - Myoclonic epilepsy of infancy SCN9A - Erythromelalgia |
| 1475-I | TM domain 4 | Arrhythmia (1) | 9 | CACNA1A - Hemiplegic migraine and episodic ataxia 2 |
| 1476-M | TM domain 4 | None | 9 | SCN5A - Long QT syndrome |
| 1477-D | TM domain 4 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1478-N | TM domain 4 | None | 9 | SCN5A - Brugada syndrome, Long QT syndrome, Sudden unexplained death SCN8A - Epileptic encephalopathy, infantile |
| 1481-Y | TM domain 4 | None | 9 | SCN5A - Long QT syndrome |
| 1482-L | TM domain 4 | None | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1483-T | TM domain 4 | Prob. Benign (0) | 9 | SCN5A - Long QT syndrome |
| 1484-R | TM domain 4 | None | 9 | SCN5A - Irritable bowel syndrome |
| 1485-D | TM domain 4 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus SCN5A - Long QT syndrome |
| 1488-I | TM domain 4 | None | 6 | SCN5A - Long QT syndrome |
| 1489-L | TM domain 4 | None | 9 | SCN5A - Brugada syndrome |
| 1490-G | TM domain 4 | None | 5 | SCN5A - Long QT syndrome |
| 1492-H | TM domain 4 | None | 8 | CACNA1H - Autism spectrum disorder ? SCN2A - Epilepsy, idiopathic |
| 1493-H | TM domain 4 | None | 8 | SCN5A - Long QT syndrome, Sick sinus syndrome, autosomal recessive |
| 1495-D | TM domain 4 | None | 8 | SCN5A - Cardiac sinus node dysfunction |
| 1496-E | TM domain 4 | Arrhythmia (1) | ||
| 1497-F | TM domain 4 | None | 8 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1498-K | TM domain 4 | None | 8 | SCN5A - Brugada syndrome, Long QT syndrome |
| 1501-W | TM domain 4 | None | 8 | CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN9A - Congenital indifference to pain |
| 1502-A | TM domain 4 | Prob. Benign (0) | ||
| 1510-G | TM domain 4 | None | 9 | SCN4A - Myotonia, potassium-aggravated SCN8A - Epileptic encephalopathy |
| 1512-I | TM domain 4 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1520-L | TM domain 4 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1521-L | TM domain 4 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Dravet syndrome C ? |
| 1522-R | TM domain 4 | Other Disease (1) | 9 | SCN5A - Long QT syndrome |
| 1524-I | TM domain 4 | None | 9 | SCN1A - Dravet syndrome |
| 1527-P | C-terminus | None | 8 | CACNA1F - Night blindness, congenital stationary, incomplete SCN5A - Long QT syndrome |
| 1528-L | C-terminus | None | 8 | SCN1A - Dravet syndrome SCN2A - Epileptic encephalopathy, early infantile SCN5A - Long QT syndrome, drug-associated |
| 1529-G | C-terminus | None | 7 | CACNA1F - Night blindness, congenital stationary, incomplete SCN5A - Atrial fibrillation ?, Sudden infant death syndrome |
| 1534-C | C-terminus | None | 4 | CACNA1A - Episodic ataxia 2 CACNA1F - Night blindness, congenital stationary, incomplete |
| 1535-P | C-terminus | None | 5 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 1537-R | C-terminus | None | 6 | SCN5A - Brugada syndrome |
| 1542-R | C-terminus | Prob. Benign (0) | ||
| 1543-L | C-terminus | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 1544-V | C-terminus | None | 9 | SCN5A - Cardiomyopathy, dilated |
| 1545-S | C-terminus | Prob. Benign (0) | ||
| 1546-M | C-terminus | None | 9 | SCN1A - Dravet syndrome C ?, Generalized epilepsy with febrile seizures plus |
| 1547-N | C-terminus | None | 9 | SCN5A - Long QT syndrome |
| 1549-P | C-terminus | None | 8 | SCN1A - Dravet syndrome C ? |
| 1550-L | C-terminus | None | 8 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1551-N | C-terminus | None | 6 | SCN1A - Generalised epilepsy with febrile seizures plus 2 |
| 1554-G | C-terminus | None | ||
| 1555-T | C-terminus | None | 9 | SCN1A - Intractable epilepsy SCN5A - Brugada syndrome |
| 1557-M | C-terminus | None | 9 | SCN2A - Ohtahara syndrome SCN5A - Arrhythmia |
| 1558-F | C-terminus | None | 8 | SCN5A - Brugada syndrome |
| 1560-A | C-terminus | Prob. Benign (0) | 7 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1561-T | C-terminus | None | 8 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1564-A | C-terminus | Prob. Benign (0) | ||
| 1565-L | C-terminus | None | 8 | SCN11A - Painful peripheral neuropathy |
| 1566-V | C-terminus | Prob. Benign (0) | ||
| 1568-T | C-terminus | Prob. Benign (0) | 8 | SCN5A - Long QT syndrome |
| 1569-A | C-terminus | None | 8 | SCN5A - Brugada syndrome |
| 1573-K | C-terminus | Prob. Benign (0) | ||
| 1576-G | C-terminus | None | 3 | SCN1A - Dravet syndrome C ? |
| 1577-N | C-terminus | None | 5 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1580-Q | C-terminus | None | 4 | SCN5A - Long QT syndrome |
| 1581-A | C-terminus | None | 4 | SCN8A - Epileptic encephalopathy, infantile |
| 1582-N | C-terminus | None | 4 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
| 1585-L | C-terminus | None | 4 | SCN5A - Atrial fibrillation |
| 1586-R | C-terminus | Prob. Benign (0) | 4 | SCN4A - Paramyotonia congenita SCN8A - Epilepsy |
| 1587-A | C-terminus | Prob. Benign (0) | ||
| 1588-I | C-terminus | None | 4 | SCN1A - Epilepsy, focal, Myoclonic epilepsy of infancy SCN2A - Epilepsy, neonatal with episodic ataxia, late-onse, Epileptic encephalopathy, Seizures, intellectual disability, optic atrophy, SCN8A - Epileptic encephalopathy, Epileptic encephalopathy, infantile |
| 1589-I | C-terminus | None | 3 | SCN4A - Myotonia |
| 1590-K | C-terminus | None | 4 | SCN5A - Sick sinus syndrome |
| 1591-K | C-terminus | None | ||
| 1595-R | C-terminus | None | 4 | SCN8A - Benign familial infantile epilepsy |
| 1599-K | C-terminus | None | 5 | SCN5A - Cardiomyopathy, hypertrophic |
| 1602-D | C-terminus | None | 4 | SCN5A - Sudden unexplained death |
| 1603-Q | C-terminus | None | 4 | SCN1A - Autism spectrum disorder |
| 1607-P | C-terminus | Arrhythmia (1) | 4 | SCN1A - Myoclonic epilepsy of infancy |
| 1608-A | C-terminus | None | 4 | SCN5A - Irritable bowel syndrome |
| 1609-G | C-terminus | None | 4 | SCN5A - Long QT syndrome |
| 1610-D | C-terminus | None | 4 | SCN2A - Autism ? SCN5A - Brugada syndrome |
| 1613-V | C-terminus | Prob. Benign (0) | 5 | SCN3A - Autism spectrum disorder SCN5A - Long QT syndrome |
| 1615-V | C-terminus | Prob. Benign (0) | ||
| 1616-G | C-terminus | None | 6 | SCN5A - Long QT syndrome |
| 1624-I | C-terminus | None | 8 | SCN1A - Myoclonic epilepsy of infancy |
| 1625-Q | C-terminus | None | 8 | SCN1A - Partial epilepsy with febrile seizures plus SCN5A - Long QT syndrome |
| 1629-R | C-terminus | None | 8 | CACNA1A - Epilepsy, idiopathic SCN10A - Brugada syndrome SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus SCN5A - Long QT syndrome |
| 1630-K | C-terminus | None | 8 | SCN1A - Myoclonic epilepsy of infancy SCN2A - Epilepsy, idiopathic generalised ? |
| 1634-R | C-terminus | Prob. Benign (0) | ||
| 1635-K | C-terminus | None | 6 | SCN10A - Brugada syndrome |
| 1637-Q | C-terminus | Prob. Benign (0) | ||
| 1639-L | C-terminus | None | 3 | SCN1A - Generalised epilepsy with febrile seizures plus 2 |
| 1640-V | C-terminus | None | 2 | SCN5A - Brugada syndrome |
| 1641-G | C-terminus | None | 2 | CACNA1H - Autism spectrum disorder |
| 1643-P | C-terminus | None | 2 | CACNA1S - Hypokalaemic periodic paralysis with malignant hyp |
| 1644-S | C-terminus | Prob. Benign (0) | ||
| 1647-N | C-terminus | Prob. Benign (0) | ||
| 1648-A | C-terminus | Prob. Benign (0) | ||
| 1649-L | C-terminus | Prob. Benign (0) | ||
| 1650-S | C-terminus | None | 2 | SCN5A - Brugada syndrome |
| 1652-Q | C-terminus | None | 1 | SCN10A - Atrial fibrillation & slow ventricular rates |
| 1656-R | C-terminus | Prob. Benign (0) | 1 | SCN1A - Autism ? |
| 1658-L | C-terminus | None | 1 | SCN1A - Myoclonic epilepsy of infancy |
| 1661-I | C-terminus | Prob. Benign (0) | 1 | SCN5A - Brugada syndrome, Long QT syndrome |
| 1662-G | C-terminus | Prob. Benign (0) | ||
| 1663-P | C-terminus | None | 2 | SCN5A - Atrial fibrillation, Brugada syndrome |
| 1667-R | C-terminus | Prob. Benign (0) | ||
| 1671-G | C-terminus | Prob. Benign (0) | 2 | CACNA1A - Hemiplegic migraine |
| 1672-D | C-terminus | Prob. Benign (0) | ||
| 1673-L | C-terminus | Prob. Benign (0) | ||
| 1675-A | C-terminus | Prob. Benign (0) | ||
| 1678-E | C-terminus | None | ||
| 1682-A | C-terminus | Prob. Benign (0) | ||
| 1685-E | C-terminus | Prob. Benign (0) | ||
| 1687-V | C-terminus | Prob. Benign (0) | ||
| 1689-A | C-terminus | Prob. Benign (0) | 1 | SCN5A - Long QT syndrome |
| 1700-G | C-terminus | Prob. Benign (0) | 2 | SCN5A - Brugada syndrome ? |
| 1704-G | C-terminus | Prob. Benign (0) | ||
| 1707-V | C-terminus | Prob. Benign (0) | ||
| 1709-Y | C-terminus | Prob. Benign (0) | ||
| 1710-Y | C-terminus | Prob. Benign (0) | 2 | SCN5A - Long QT syndrome |
| 1713-D | C-terminus | Prob. Benign (0) | ||
| 1714-G | C-terminus | Prob. Benign (0) | ||
| 1715-R | C-terminus | Prob. Benign (0) | ||
| 1717-A | C-terminus | Benign (0) | ||
| 1720-Q | C-terminus | Prob. Benign (0) | ||
| 1721-T | C-terminus | Prob. Benign (0) | ||
| 1722-F | C-terminus | Prob. Benign (0) | ||
| 1726-R | C-terminus | Prob. Benign (0) | ||
| 1729-H | C-terminus | Prob. Benign (0) | ||
| 1730-I | C-terminus | Prob. Benign (0) | ||
| 1733-A | C-terminus | Other Cardiac (1) | ||
| 1739-D | C-terminus | Prob. Benign (0) | ||
| 1742-S | C-terminus | Prob. Benign (0) | ||
| 1745-H | C-terminus | Prob. Benign (0) | ||
| 1746-E | C-terminus | Prob. Benign (0) | ||
| 1749-V | C-terminus | None | 1 | SCN5A - Brugada syndrome |
| 1750-D | C-terminus | None | 1 | SCN1A - Acute encephalopathy |
| 1752-T | C-terminus | Prob. Benign (0) | ||
| 1755-P | C-terminus | Prob. Benign (0) | ||
| 1757-S | C-terminus | Prob. Benign (0) | ||
| 1759-S | C-terminus | Prob. Benign (0) | ||
| 1762-G | C-terminus | Prob. Benign (0) | ||
| 1764-N | C-terminus | None | 1 | SCN1A - Epilepsy-aphasia with febrile seizures plus |
| 1765-A | C-terminus | Prob. Benign (0) | ||
| 1774-A | C-terminus | Prob. Benign (0) | ||
| 1777-R | C-terminus | Prob. Benign (0) | ||
| 1780-R | C-terminus | Arrhythmia (1) | ||
| 1782-A | C-terminus | Prob. Benign (0) | ||
| 1783-G | C-terminus | Prob. Benign (0) | ||
| 1785-P | C-terminus | Prob. Benign (0) | ||
| 1787-T | C-terminus | Benign (0) | ||
| 1788-V | C-terminus | Prob. Benign (0) | ||
| 1792-E | C-terminus | Prob. Benign (0) | ||
| 1795-G | C-terminus | Benign (0) | ||
| 1796-P | C-terminus | Prob. Benign (0) | ||
| 1797-P | C-terminus | Prob. Benign (0) | ||
| 1800-P | C-terminus | Prob. Benign (0) | ||
| 1802-I | C-terminus | Prob. Benign (0) | ||
| 1803-R | C-terminus | Prob. Benign (0) | ||
| 1804-V | C-terminus | Prob. Benign (0) | ||
| 1806-E | C-terminus | Prob. Benign (0) | ||
| 1814-N | C-terminus | Prob. Benign (0) | ||
| 1815-R | C-terminus | Prob. Benign (0) | ||
| 1819-R | C-terminus | Prob. Benign (0) | ||
| 1820-E | C-terminus | Prob. Benign (0) | ||
| 1822-Q | C-terminus | Prob. Benign (0) | 1 | CACNA1A - Episodic ataxia 2 |
| 1823-A | C-terminus | Prob. Benign (0) | ||
| 1826-A | C-terminus | Prob. Benign (0) | ||
| 1831-T | C-terminus | Prob. Benign (0) | ||
| 1834-D | C-terminus | Prob. Benign (0) | ||
| 1839-V | C-terminus | Prob. Benign (0) | ||
| 1840-K | C-terminus | Prob. Benign (0) | ||
| 1842-N | C-terminus | None | ||
| 1843-H | C-terminus | Prob. Benign (0) | ||
| 1845-T | C-terminus | Prob. Benign (0) | ||
| 1850-E | C-terminus | Prob. Benign (0) | ||
| 1859-L | C-terminus | Prob. Benign (0) | ||
| 1863-D | C-terminus | Prob. Benign (0) | ||
| 1865-E | C-terminus | Benign (0) | ||
| 1867-R | C-terminus | Prob. Benign (0) | ||
| 1870-T | C-terminus | Benign (0) | ||
| 1873-E | C-terminus | Prob. Benign (0) | ||
| 1876-K | C-terminus | None | ||
| 1878-D | C-terminus | Prob. Benign (0) | ||
| 1880-R | C-terminus | Arrhythmia (4) | ||
| 1881-Q | C-terminus | Prob. Benign (0) | ||
| 1882-S | C-terminus | Prob. Benign (0) | ||
| 1883-P | C-terminus | Prob. Benign (0) | ||
| 1886-G | C-terminus | Prob. Benign (0) | ||
| 1889-R | C-terminus | Conflict (2) | ||
| 1891-A | C-terminus | Prob. Benign (0) | ||
| 1894-G | C-terminus | Prob. Benign (0) | ||
| 1895-R | C-terminus | Prob. Benign (0) | ||
| 1896-R | C-terminus | None | 2 | SCN5A - Atrial fibrillation |
| 1897-A | C-terminus | None | 2 | SCN5A - Long QT syndrome |
| 1900-H | C-terminus | None | 2 | SCN5A - Long QT syndrome |
| 1905-K | C-terminus | Prob. Benign (0) | ||
| 1906-R | C-terminus | Arrhythmia (1) | ||
| 1909-D | C-terminus | Prob. Benign (0) | ||
| 1910-R | C-terminus | Prob. Benign (0) | ||
| 1911-G | C-terminus | Arrhythmia (2) | ||
| 1913-D | C-terminus | Prob. Benign (0) | ||
| 1914-I | C-terminus | Prob. Benign (0) | ||
| 1916-Q | C-terminus | Other Cardiac (1) | ||
| 1927-H | C-terminus | Prob. Benign (0) | ||
| 1929-A | C-terminus | Prob. Benign (0) | ||
| 1930-L | C-terminus | Prob. Benign (0) | ||
| 1936-S | C-terminus | Prob. Benign (0) | ||
| 1939-L | C-terminus | Prob. Benign (0) | ||
| 1940-Q | C-terminus | Prob. Benign (0) | ||
| 1943-H | C-terminus | Prob. Benign (0) | ||
| 1945-P | C-terminus | Prob. Benign (0) | ||
| 1946-A | C-terminus | Prob. Benign (0) | ||
| 1947-S | C-terminus | Prob. Benign (0) | ||
| 1949-P | C-terminus | Prob. Benign (0) | ||
| 1953-A | C-terminus | Prob. Benign (0) | ||
| 1958-T | C-terminus | Prob. Benign (0) | ||
| 1959-P | C-terminus | Prob. Benign (0) | ||
| 1962-R | C-terminus | Prob. Benign (0) | ||
| 1963-G | C-terminus | Prob. Benign (0) | ||
| 1969-V | C-terminus | Prob. Benign (0) | ||
| 1971-T | C-terminus | Prob. Benign (0) | ||
| 1972-L | C-terminus | Prob. Benign (0) | ||
| 1973-R | C-terminus | Conflict (1) | ||
| 1974-L | C-terminus | Prob. Benign (0) | ||
| 1976-G | C-terminus | Prob. Benign (0) | ||
| 1977-V | C-terminus | None | ||
| 1978-E | C-terminus | Prob. Benign (0) | ||
| 1980-S | C-terminus | Prob. Benign (0) | ||
| 1986-S | C-terminus | Prob. Benign (0) | ||
| 1990-I | C-terminus | Prob. Benign (0) | ||
| 1992-C | C-terminus | Prob. Benign (0) | ||
| 1996-A | C-terminus | Prob. Benign (0) | ||
| 1998-T | C-terminus | Prob. Benign (0) | ||
| 1999-T | C-terminus | Prob. Benign (0) | ||
| 2000-P | C-terminus | Prob. Benign (0) | ||
| 2001-G | C-terminus | Prob. Benign (0) | ||
| 2003-G | C-terminus | None | ||
| 2004-G | C-terminus | Prob. Benign (0) | ||
| 2007-A | C-terminus | Prob. Benign (0) | ||
| 2008-A | C-terminus | Prob. Benign (0) | ||
| 2009-R | C-terminus | Prob. Benign (0) | ||
| 2010-R | C-terminus | Prob. Benign (0) | ||
| 2011-V | C-terminus | Prob. Benign (0) | ||
| 2012-R | C-terminus | Prob. Benign (0) | ||
| 2014-V | C-terminus | Arrhythmia (4) | ||
| 2017-M | C-terminus | None | ||
| 2019-P | C-terminus | Prob. Benign (0) | ||
| 2020-S | C-terminus | Prob. Benign (0) | ||
| 2022-A | C-terminus | Prob. Benign (0) | ||
| 2023-G | C-terminus | Prob. Benign (0) | ||
| 2026-G | C-terminus | None | ||
| 2028-Q | C-terminus | Prob. Benign (0) | ||
| 2039-A | C-terminus | Prob. Benign (0) | ||
| 2050-A | C-terminus | Prob. Benign (0) | ||
| 2051-Q | C-terminus | Prob. Benign (0) | ||
| 2054-K | C-terminus | Prob. Benign (0) | ||
| 2057-E | C-terminus | Prob. Benign (0) | ||
| 2068-D | C-terminus | Prob. Benign (0) | 3 | CACNA1F - MRX |
| 2071-I | C-terminus | Prob. Benign (0) | ||
| 2075-E | C-terminus | Prob. Benign (0) | ||
| 2076-S | C-terminus | Prob. Benign (0) | ||
| 2077-A | C-terminus | Prob. Benign (0) | ||
| 2079-D | C-terminus | Prob. Benign (0) | ||
| 2080-N | C-terminus | None | ||
| 2085-G | C-terminus | Prob. Benign (0) | ||
| 2088-Q | C-terminus | None | 2 | CACNA1S - Exertional heat illness |
| 2089-S | C-terminus | Prob. Benign (0) | ||
| 2091-N | C-terminus | Conflict (1) | ||
| 2092-G | C-terminus | Prob. Benign (0) | ||
| 2098-V | C-terminus | None | 1 | CACNA1H - Intellectual disability, microcephaly and cortical |
| 2102-D | C-terminus | Prob. Benign (0) | ||
| 2103-A | C-terminus | Prob. Benign (0) | ||
| 2107-R | C-terminus | Prob. Benign (0) | ||
| 2110-G | C-terminus | Prob. Benign (0) | ||
| 2113-D | C-terminus | Prob. Benign (0) | ||
| 2115-G | C-terminus | Prob. Benign (0) | ||
| 2117-V | C-terminus | Prob. Benign (0) | ||
| 2118-R | C-terminus | Prob. Benign (0) | ||
| 2121-G | C-terminus | Prob. Benign (0) | ||
| 2122-R | C-terminus | Prob. Benign (0) | ||
| 2124-S | C-terminus | None | ||
| 2125-E | C-terminus | None | 2 | SCN5A - Sudden unexplained death |
| 2126-E | C-terminus | None | 2 | SCN5A - Brugada syndrome ?, Long QT syndrome |
| 2127-E | C-terminus | Prob. Benign (0) | 2 | SCN5A - Cardiomyopathy, dilated ? |
| 2128-L | C-terminus | None | 3 | SCN5A - Long QT syndrome ? |
| 2130-D | C-terminus | Arrhythmia (1) | ||
| 2131-S | C-terminus | Prob. Benign (0) | ||
| 2134-Y | C-terminus | None | 3 | SCN5A - Brugada syndrome, Long QT syndrome |
| 2135-V | C-terminus | Prob. Benign (0) | ||
| 2138-L | C-terminus | None | 4 | SCN5A - Brugada syndrome |