SCN5A Paralogue Annotation
This page details the annotation of SCN5A with disease causing variants in the following paralogues: SCN9A, SCN1A, CACNA1C, CACNA1F, SCN4A, CACNA1A, CACNA1H, SCN2A, CACNA1S, SCN3A, CACNA1G, SCN8A, SCN10A, CACNA1D, CACNA1E, SCN11A, CACNA1I. Click here to see the multiple sequence alignment of SCN5A with all paralogues.
The paralogue variant mappings to SCN5A are based on the Locus Reference Genomic entry for SCN5A - LRG_289. This is based on the transcript ENST00000333535 and protein ENSP00000328968 (2016 amino acids) for the Ensembl gene ENSG00000183873.
- Paralogue Annotations
- Known SCN5A Variants
- All Variants and Paralogue Annotations
Amino acid residues of SCN5A with mapped disease-causing missense variants from paralogues are shown below, along with details about the SCN5A protein domain and known missense variant status for these residues (the number of published reports for the residue is in parentheses), the consensus from the M-Coffee multiple sequence alignment at this mapping and the disease(s) associated with the paralogue variant(s). Click on the residue to see further details about the known SCN5A variants and the mapped paralogue variants.
| Residue | Domain | Known Variant Status | Consensus | Mapped Paralogues and Variant Disease |
|---|---|---|---|---|
| 11-S | N-terminus | None | 2 | SCN9A - Erythermalgia, primary |
| 14-R | N-terminus | Prob. Benign (0) | 3 | SCN10A - Brugada syndrome |
| 19-E | N-terminus | None | 3 | SCN10A - Brugada syndrome |
| 23-A | N-terminus | Prob. Benign (0) | 3 | SCN1A - Dravet syndrome |
| 24-I | N-terminus | None | 3 | CACNA1C - Long QT, non-syndromic |
| 26-K | N-terminus | None | 3 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 27-R | N-terminus | Arrhythmia (3) | 2 | SCN1A - Generalized epilepsy with febrile seizures plus SCN2A - Autism spectrum disorder |
| 38-T | N-terminus | None | 2 | CACNA1C - Sudden cardiac death |
| 41-E | N-terminus | None | 1 | CACNA1C - Sudden arrhythmic death syndrome |
| 45-G | N-terminus | None | 2 | CACNA1C - Brugada syndrome (shorter-than-normal QT interval) |
| 48-E | N-terminus | Arrhythmia (1) | 2 | SCN1A - Epilepsy ? |
| 57-D | N-terminus | None | 2 | SCN8A - Intellectual disability and epilepsy |
| 61-S | N-terminus | None | 3 | SCN1A - Dravet syndrome |
| 64-L | N-terminus | None | 3 | SCN1A - Dravet syndrome |
| 66-D | N-terminus | None | 2 | SCN1A - Dravet syndrome |
| 67-L | N-terminus | None | 3 | SCN9A - Febrile seizures |
| 71-P | N-terminus | None | 2 | SCN1A - Dravet syndrome B ? |
| 72-P | N-terminus | None | 2 | SCN4A - Myotonic dystrophy, type 2 |
| 77-G | N-terminus | None | 3 | SCN1A - Myoclonic epilepsy of infancy |
| 81-E | N-terminus | None | 3 | SCN1A - Myoclonic epilepsy of infancy |
| 82-D | N-terminus | Prob. Benign (0) | 3 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 84-D | N-terminus | Arrhythmia (1) | 3 | SCN1A - Dravet syndrome |
| 87-Y | N-terminus | Arrhythmia (1) | 4 | SCN1A - Myoclonic epilepsy of infancy |
| 93-F | N-terminus | Arrhythmia (2) | 5 | SCN1A - Myoclonic epilepsy of infancy |
| 94-I | N-terminus | Arrhythmia (2) | 5 | SCN1A - Myoclonic epilepsy of infancy |
| 95-V | N-terminus | Arrhythmia (3) | 4 | SCN10A - Atrial fibrillation |
| 96-L | N-terminus | None | 4 | SCN1A - Dravet syndrome |
| 101-T | N-terminus | Prob. Benign (0) | 6 | SCN1A - Dravet syndrome C ? |
| 104-R | N-terminus | Arrhythmia (8) | 7 | SCN1A - Myoclonic epilepsy of infancy SCN4A - Myopathy, congenital |
| 106-S | N-terminus | Prob. Benign (0) | 8 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 107-A | N-terminus | None | 8 | SCN1A - Dravet syndrome |
| 108-T | N-terminus | None | 8 | SCN1A - Myoclonic epilepsy of infancy |
| 109-N | N-terminus | Arrhythmia (2) | 8 | CACNA1F - Night blindness, congenital stationary 2 SCN1A - Dravet syndrome |
| 111-L | N-terminus | None | 9 | SCN1A - Dravet syndrome, Epilepsy ? |
| 113-V | N-terminus | Arrhythmia (1) | 9 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 115-S | N-terminus | Arrhythmia (1) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 116-P | N-terminus | None | 9 | SCN1A - Dravet syndrome |
| 121-R | N-terminus | Arrhythmia (7) | 9 | CACNA1F - Congenital stationary night blindness, Night blindness, congenital stationary, incomplete SCN1A - Myoclonic epilepsy of infancy |
| 125-V | N-terminus | Arrhythmia (4) | 9 | SCN9A - Dravet syndrome |
| 127-I | TM Domain 1 | None | 9 | CACNA1F - Congenital stationary night blindness SCN1A - Dravet syndrome |
| 128-L | TM Domain 1 | None | 9 | SCN4A - Myotonia |
| 130-H | TM Domain 1 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome B ?, Epilepsy with febrile seizures plus |
| 134-N | TM Domain 1 | None | 9 | CACNA1A - Epilepsy of infancy with migrating focal seizures CACNA1F - High myopia SCN2A - Epileptic encephalopathy, early onset |
| 138-M | TM Domain 1 | Arrhythmia (2) | 9 | SCN10A - Brugada syndrome SCN2A - Epileptic encephalopathy, early onset |
| 139-C | TM Domain 1 | None | 9 | CACNA1F - Congenital stationary night blindness |
| 141-I | TM Domain 1 | Other Cardiac (1) | 9 | SCN1A - Dravet syndrome SCN4A - Myotonia SCN9A - Erythermalgia, primary |
| 148-M | TM Domain 1 | None | 9 | SCN1A - Dravet syndrome, Febrile seizures |
| 154-P | TM Domain 1 | None | 5 | SCN9A - Febrile seizures |
| 162-Y | TM Domain 1 | Prob. Benign (0) | 8 | SCN10A - Atrial fibrillation, early-onset |
| 165-T | TM Domain 1 | None | 7 | SCN1A - Myoclonic epilepsy of infancy |
| 166-A | TM Domain 1 | Prob. Benign (1) | 7 | SCN1A - Dravet syndrome |
| 169-T | TM Domain 1 | None | 9 | CACNA1C - Sudden unexplained death |
| 171-E | TM Domain 1 | None | 9 | CACNA1A - Episodic ataxia 2 SCN2A - Epileptic encephalopathy, early onset |
| 174-V | TM Domain 1 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN2A - Acute encephalopathy with biphasic seizures & late |
| 178-A | TM Domain 1 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 180-G | TM Domain 1 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 181-F | TM Domain 1 | None | 9 | SCN1A - Intractable epilepsy |
| 182-C | TM Domain 1 | Arrhythmia (1) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 183-L | TM Domain 1 | None | 9 | CACNA1H - Epilepsy, childhood absence |
| 186-F | TM Domain 1 | None | 9 | CACNA1A - Episodic ataxia 2 |
| 187-T | TM Domain 1 | Arrhythmia (2) | 9 | CACNA1F - Night blindness, congenital stationary 2 |
| 190-R | TM Domain 1 | Arrhythmia (4) | 9 | SCN2A - Febrile and afebrile seizures SCN9A - Small fibre neuropathy |
| 191-D | TM Domain 1 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 193-W | TM Domain 1 | None | 9 | SCN10A - Brugada syndrome SCN1A - Myoclonic epilepsy of infancy |
| 194-N | TM Domain 1 | None | 9 | SCN1A - Dravet syndrome |
| 196-L | TM Domain 1 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 197-D | TM Domain 1 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 202-I | TM Domain 1 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 203-M | TM Domain 1 | None | 9 | SCN4A - Myopathy, congenital |
| 204-A | TM Domain 1 | Arrhythmia (1) | 9 | SCN10A - Brugada syndrome |
| 209-F | TM Domain 1 | None | 6 | SCN8A - Epileptic encephalopathy |
| 210-V | TM Domain 1 | None | 7 | SCN10A - Brugada syndrome SCN2A - Infantile seizures, benign |
| 213-G | TM Domain 1 | None | 5 | SCN2A - West syndrome with hypotonia SCN8A - Infantile spasms |
| 214-N | TM Domain 1 | None | 8 | SCN2A - Ohtahara syndrome SCN8A - Epileptic encephalopathy |
| 215-V | TM Domain 1 | None | 9 | SCN1A - Dravet syndrome SCN2A - Epileptic encephalopathy, early onset SCN8A - Epileptic encephalopathy, infantile |
| 216-S | TM Domain 1 | Conflict (15) | 9 | CACNA1A - Episodic ataxia 2, Hemiplegic migraine and episodic ataxia 2 SCN9A - Erythermalgia, primary |
| 219-R | TM Domain 1 | Prob. Benign (3) | 9 | CACNA1A - Hemiplegic migraine SCN11A - Episodic pain syndrome |
| 220-T | TM Domain 1 | Conflict (15) | 9 | SCN1A - Myoclonic epilepsy of infancy SCN2A - Epilepsy of infancy with migrating focal seizures |
| 221-F | TM Domain 1 | None | 9 | SCN1A - Generalised epilepsy with febrile seizures plus 2 SCN9A - Erythermalgia, primary |
| 222-R | TM Domain 1 | None | 9 | SCN11A - Episodic pain syndrome SCN1A - Dravet syndrome SCN2A - Epileptic encephalopathy SCN4A - Hypokalaemic periodic paralysis SCN8A - Epileptic encephalopathy |
| 223-V | TM Domain 1 | Arrhythmia (2) | 9 | SCN1A - Malignant migrating partial seizures in infancy |
| 225-R | TM Domain 1 | Arrhythmia (14) | 9 | SCN2A - Neonatal-infantile seizures SCN4A - Myotonia, non-dystrophic |
| 226-A | TM Domain 1 | Arrhythmia (5) | 9 | SCN1A - Dravet syndrome |
| 228-K | TM Domain 1 | None | 9 | CACNA1S - Malignant hyperthermia ? SCN1A - Dravet syndrome |
| 229-T | TM Domain 1 | None | 9 | CACNA1F - Congenital stationary night blindness SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 230-I | TM Domain 1 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 232-V | TM Domain 1 | Arrhythmia (6) | 9 | CACNA1H - Autism spectrum disorder ? |
| 233-I | TM Domain 1 | None | 9 | SCN9A - Dravet syndrome ? |
| 235-G | TM Domain 1 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
| 236-L | TM Domain 1 | None | 9 | SCN1A - Dravet syndrome C ? |
| 238-T | TM Domain 1 | None | 9 | SCN2A - Ohtahara syndrome |
| 239-I | TM Domain 1 | Arrhythmia (1) | 9 | SCN9A - Erythermalgia, primary |
| 242-A | TM Domain 1 | None | 9 | CACNA1A - Hemiplegic migraine CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Myoclonic epilepsy of infancy SCN2A - Epilepsy of infancy with migrating focal seizures |
| 243-L | TM Domain 1 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 246-S | TM Domain 1 | None | 9 | SCN10A - Brugada syndrome SCN1A - Dravet syndrome SCN9A - Erythermalgia, primary |
| 249-K | TM Domain 1 | None | 9 | CACNA1A - Hemiplegic migraine |
| 250-L | TM Domain 1 | None | 9 | SCN4A - Isolated eyelid closure myotonia SCN9A - Erythermalgia, primary |
| 252-D | TM Domain 1 | None | 9 | SCN1A - Dravet syndrome |
| 254-M | TM Domain 1 | None | 9 | SCN2A - Neonatal-infantile seizures |
| 255-V | TM Domain 1 | None | 9 | SCN1A - Intractable epilepsy, Myoclonic epilepsy of infancy |
| 257-T | TM Domain 1 | None | 9 | SCN1A - Febrile seizures plus |
| 259-F | TM Domain 1 | None | 9 | SCN8A - Epileptic encephalopathy |
| 260-C | TM Domain 1 | None | 9 | SCN1A - Dravet syndrome |
| 262-S | TM Domain 1 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
| 263-V | TM Domain 1 | Prob. Benign (0) | 9 | SCN2A - Neonatal-infantile seizures |
| 265-A | TM Domain 1 | Prob. Benign (0) | 9 | SCN2A - Epileptic encephalopathy, early onset, Neonatal epilepsy, late-onset ataxia, myoclonus & |
| 266-L | TM Domain 1 | Prob. Benign (0) | 9 | SCN1A - Hemiplegic migraine and epilepsy SCN4A - Myotonia |
| 268-G | TM Domain 1 | Prob. Benign (0) | 9 | CACNA1F - Night blindness, congenital stationary 2 SCN1A - Myoclonic epilepsy of infancy |
| 271-L | TM Domain 1 | None | 9 | SCN9A - Febrile seizures |
| 272-F | TM Domain 1 | None | 9 | CACNA1A - Episodic ataxia 2 |
| 274-G | TM Domain 1 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 277-R | TM Domain 1 | None | 9 | CACNA1A - Episodic ataxia 2 |
| 279-K | TM Domain 1 | None | 9 | SCN1A - Dravet syndrome |
| 280-C | TM Domain 1 | Arrhythmia (1) | 9 | CACNA1A - Episodic ataxia 2 SCN1A - Dravet syndrome |
| 282-R | TM Domain 1 | Arrhythmia (5) | 7 | CACNA1C - Brugada syndrome |
| 283-N | TM Domain 1 | None | 6 | SCN1A - Myoclonic epilepsy of infancy |
| 284-F | TM Domain 1 | None | 2 | SCN1A - Myoclonic epilepsy of infancy |
| 286-A | TM Domain 1 | Prob. Benign (2) | 2 | CACNA1H - Epilepsy, childhood absence |
| 288-N | TM Domain 1 | Prob. Benign (0) | 3 | SCN3A - Epilepsy |
| 304-L | TM Domain 1 | None | 4 | SCN1A - Generalized epilepsy with febrile seizures plus, Myoclonic-astatic epilepsy ? |
| 307-Y | TM Domain 1 | None | 4 | SCN1A - Dravet syndrome |
| 308-L | TM Domain 1 | None | 3 | CACNA1H - Epilepsy, childhood absence |
| 310-D | TM Domain 1 | None | 3 | SCN2A - Neonatal-infantile seizures |
| 312-E | TM Domain 1 | None | 4 | SCN1A - Myoclonic epilepsy of infancy |
| 315-L | TM Domain 1 | Arrhythmia (1) | 7 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 316-L | TM Domain 1 | None | 6 | SCN2A - Neonatal-infantile seizures |
| 326-C | TM Domain 1 | None | 5 | CACNA1A - Paroxysmal tonic upward gaze SCN1A - Dravet syndrome |
| 330-S | TM Domain 1 | Prob. Benign (0) | 4 | SCN1A - Dravet syndrome |
| 332-A | TM Domain 1 | Prob. Benign (0) | 3 | SCN1A - Dravet syndrome, Dravet syndrome C ? |
| 333-G | TM Domain 1 | None | 4 | SCN1A - Myoclonic epilepsy of infancy |
| 335-C | TM Domain 1 | Arrhythmia (1) | 5 | SCN1A - Dravet syndrome, Dravet syndrome C, Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 339-Y | TM Domain 1 | None | 7 | SCN1A - Dravet syndrome |
| 340-R | TM Domain 1 | Arrhythmia (5) | 8 | SCN1A - Dravet syndrome |
| 341-C | TM Domain 1 | None | 9 | CACNA1A - Episodic ataxia 2 SCN1A - Dravet syndrome |
| 343-K | TM Domain 1 | None | 8 | SCN3A - Epilepsy, cryptogenic pediatric partial |
| 345-G | TM Domain 1 | None | 8 | SCN1A - Dravet syndrome |
| 346-E | TM Domain 1 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy SCN3A - Epilepsy, focal |
| 347-N | TM Domain 1 | None | 9 | CACNA1A - Spinocerebellar ataxia 6 SCN1A - Dravet syndrome |
| 348-P | TM Domain 1 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN4A - Myopathy, congenital |
| 349-D | TM Domain 1 | Other Cardiac (1) | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ? |
| 351-G | TM Domain 1 | Arrhythmia (3) | 9 | CACNA1A - Episodic ataxia, global developmental delay, and m CACNA1F - High myopia |
| 353-T | TM Domain 1 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 355-F | TM Domain 1 | None | 9 | CACNA1A - Cerebellar ataxia |
| 356-D | TM Domain 1 | Arrhythmia (4) | 9 | CACNA1A - Spinocerebellar ataxia 6 SCN1A - Myoclonic epilepsy of infancy |
| 364-A | TM Domain 1 | None | 9 | SCN1A - Dravet syndrome |
| 367-R | TM Domain 1 | Arrhythmia (15) | 9 | SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus |
| 368-L | TM Domain 1 | None | 9 | SCN1A - Dravet syndrome |
| 369-M | TM Domain 1 | Arrhythmia (3) | 9 | SCN1A - Dravet syndrome |
| 372-D | TM Domain 1 | None | 9 | SCN1A - Dravet syndrome, Epilepsy ? |
| 373-C | TM Domain 1 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 374-W | TM Domain 1 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 375-E | TM Domain 1 | None | 9 | SCN1A - Dravet syndrome |
| 378-Y | TM Domain 1 | None | 8 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 381-T | TM Domain 1 | None | 9 | SCN1A - Dravet syndrome |
| 383-R | TM Domain 1 | None | 8 | SCN1A - Myoclonic epilepsy of infancy |
| 385-A | TM Domain 1 | Prob. Benign (0) | 8 | SCN1A - Cryptogenic generalised epilepsy |
| 386-G | TM Domain 1 | Arrhythmia (4) | 8 | SCN1A - Dravet syndrome |
| 390-M | TM Domain 1 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ? |
| 393-F | TM Domain 1 | None | 9 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 394-M | TM Domain 1 | None | 9 | SCN11A - Painful peripheral neuropathy |
| 396-V | TM Domain 1 | Arrhythmia (4) | 9 | SCN1A - Dravet syndrome |
| 398-F | TM Domain 1 | None | 9 | SCN1A - Epilepsy, idiopathic |
| 399-L | TM Domain 1 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 400-G | TM Domain 1 | Other Cardiac (2) | 9 | CACNA1F - Nightblindness-associated transient tonic downgaze |
| 402-F | TM Domain 1 | Prob. Benign (0) | 9 | SCN10A - Brugada syndrome SCN1A - Generalized epilepsy with febrile seizures plus |
| 403-Y | TM Domain 1 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 404-L | TM Domain 1 | Arrhythmia (1) | 9 | SCN10A - Brugada syndrome |
| 406-N | TM Domain 1 | Arrhythmia (6) | 9 | SCN4A - Myotonia SCN9A - Erythermalgia, primary |
| 409-L | TM Domain 1 | Arrhythmia (2) | 9 | SCN8A - Intellectual disability and epilepsy |
| 410-A | TM Domain 1 | Prob. Benign (0) | 9 | CACNA1C - Timothy syndrome CACNA1D - Primary aldosteronism CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Generalized epilepsy with febrile seizures plus SCN8A - Epileptic encephalopathy, early infantile with mov |
| 411-V | TM Domain 1 | Arrhythmia (6) | 9 | SCN4A - Myotonia SCN9A - Erythermalgia, carbamazepine-responsive |
| 412-V | TM Domain 1 | None | 9 | SCN1A - Cryptogenic generalised epilepsy, Dravet syndrome, Epileptic encephalopathy, infantile SCN8A - Epileptic encephalopathy |
| 414-M | TM Domain 1 | None | 9 | CACNA1C - Timothy syndrome CACNA1D - Autism |
| 416-Y | Interdomain Linker I-II | Prob. Benign (0) | 9 | CACNA1A - Hemiplegic migraine SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 418-E | Interdomain Linker I-II | None | 9 | SCN2A - Epileptic encephalopathy, early onset, Neonatal-infantile seizures ? SCN4A - Myotonia, non-dystrophic |
| 422-A | Interdomain Linker I-II | None | 9 | SCN1A - Dravet syndrome |
| 432-K | Interdomain Linker I-II | None | 4 | SCN11A - Painful peripheral neuropathy |
| 439-E | Interdomain Linker I-II | Arrhythmia (2) | 3 | CACNA1A - Episodic ataxia 2 |
| 440-M | Interdomain Linker I-II | None | 3 | CACNA1A - Episodic ataxia 2 |
| 441-L | Interdomain Linker I-II | Prob. Benign (0) | 3 | CACNA1A - Episodic ataxia 2 |
| 484-S | Interdomain Linker I-II | None | 2 | SCN9A - Febrile seizures ? |
| 485-G | Interdomain Linker I-II | None | 2 | CACNA1H - Epilepsy, childhood absence |
| 490-G | Interdomain Linker I-II | Prob. Benign (0) | 2 | CACNA1A - Episodic ataxia 2 |
| 492-D | Interdomain Linker I-II | None | 2 | CACNA1H - Epilepsy, childhood absence |
| 499-S | Interdomain Linker I-II | None | 2 | SCN1A - Dravet syndrome |
| 509-L | Interdomain Linker I-II | None | 2 | SCN1A - Dravet syndrome |
| 521-K | Interdomain Linker I-II | Prob. Benign (0) | 3 | SCN1A - Dravet syndrome |
| 527-G | Interdomain Linker I-II | Prob. Benign (0) | 2 | SCN2A - Neonatal-infantile seizures |
| 534-R | Interdomain Linker I-II | None | 2 | SCN9A - Dravet syndrome |
| 555-E | Interdomain Linker I-II | Arrhythmia (2) | 3 | SCN9A - Dravet syndrome |
| 557-H | Interdomain Linker I-II | Prob. Benign (0) | 3 | SCN1A - Generalized epilepsy with febrile seizures plus ? |
| 566-P | Interdomain Linker I-II | None | 2 | CACNA1G - Myoclonic epilepsy, juvenile |
| 569-R | Interdomain Linker I-II | Arrhythmia (2) | 3 | SCN1A - Epilepsy with febrile seizures plus & Dravet syndr |
| 584-G | Interdomain Linker I-II | Prob. Benign (0) | 2 | SCN1A - Cryptogenic generalised epilepsy |
| 588-H | Interdomain Linker I-II | Prob. Benign (0) | 2 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 591-K | Interdomain Linker I-II | None | 1 | CACNA1H - Idiopathic epilepsy, generalised SCN9A - Erythermalgia, primary |
| 596-D | Interdomain Linker I-II | Prob. Benign (2) | 2 | SCN2A - Dravet syndrome SCN9A - Small fibre neuropathy |
| 608-D | Interdomain Linker I-II | Prob. Benign (0) | 1 | SCN1A - Dravet syndrome |
| 615-G | Interdomain Linker I-II | Arrhythmia (15) | 1 | SCN9A - Febrile seizures |
| 625-E | Interdomain Linker I-II | Prob. Benign (0) | 1 | SCN1A - Myoclonic epilepsy of infancy |
| 626-H | Interdomain Linker I-II | None | 1 | CACNA1H - Epilepsy, childhood absence |
| 632-T | Interdomain Linker I-II | Arrhythmia (2) | 2 | SCN2A - Autism spectrum disorder |
| 633-P | Interdomain Linker I-II | None | 1 | SCN8A - Epileptic encephalopathy |
| 639-G | Interdomain Linker I-II | Arrhythmia (2) | 2 | SCN9A - Febrile seizures |
| 642-M | Interdomain Linker I-II | None | 2 | SCN10A - Brugada syndrome |
| 668-V | Interdomain Linker I-II | Prob. Benign (0) | 2 | SCN9A - Dravet syndrome ? |
| 669-L | Interdomain Linker I-II | None | 2 | CACNA1C - Brugada syndrome (shorter-than-normal QT interval) |
| 672-A | Interdomain Linker I-II | Prob. Benign (3) | 3 | SCN10A - Brugada syndrome |
| 678-E | Interdomain Linker I-II | None | 2 | CACNA1F - Retinal dystrophy |
| 683-C | Interdomain Linker I-II | Arrhythmia (2) | 3 | CACNA1H - Epilepsy, childhood absence SCN9A - Dravet syndrome ? |
| 684-P | Interdomain Linker I-II | None | 4 | CACNA1A - Episodic ataxia 2 |
| 687-W | Interdomain Linker I-II | None | 3 | SCN1A - Dravet syndrome |
| 697-W | Interdomain Linker I-II | None | 6 | CACNA1H - Epilepsy, childhood absence |
| 703-W | Interdomain Linker I-II | None | 6 | SCN1A - Dravet syndrome |
| 704-M | Interdomain Linker I-II | None | 6 | SCN9A - Small fibre neuropathy |
| 707-K | Interdomain Linker I-II | None | 8 | CACNA1A - Epilepsy, idiopathic CACNA1F - Night blindness, congenital stationary, incomplete, Retinitis pigmentosa |
| 708-Q | Interdomain Linker I-II | None | 8 | CACNA1H - Epilepsy, childhood absence |
| 711-K | Interdomain Linker I-II | None | 9 | CACNA1C - Long QT syndrome with hypertrophic cardiomyopathy SCN1A - Dravet syndrome C ? |
| 717-P | TM Domain 2 | Arrhythmia (3) | 8 | SCN1A - Myoclonic epilepsy of infancy |
| 722-T | TM Domain 2 | None | 9 | SCN11A - Painful peripheral neuropathy |
| 723-I | TM Domain 2 | None | 9 | SCN10A - Brugada syndrome SCN9A - Febrile seizures ? |
| 727-I | TM Domain 2 | None | 9 | SCN4A - Myotonia & periodic paralysis |
| 731-T | TM Domain 2 | Arrhythmia (1) | 9 | CACNA1A - Episodic ataxia 2 SCN8A - Epileptic encephalopathy |
| 732-L | TM Domain 2 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 734-M | TM Domain 2 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ? |
| 737-E | TM Domain 2 | None | 9 | SCN1A - Dravet syndrome |
| 739-Y | TM Domain 2 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus, Panayiotopoulos syndrome |
| 740-N | TM Domain 2 | None | 9 | CACNA1C - Brugada syndrome (shorter-than-normal QT interval) |
| 742-T | TM Domain 2 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
| 755-V | TM Domain 2 | None | 9 | CACNA1H - Epilepsy, childhood absence |
| 757-T | TM Domain 2 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 761-T | TM Domain 2 | None | 9 | SCN1A - Dravet syndrome B ?, Myoclonic epilepsy of infancy |
| 763-E | TM Domain 2 | Prob. Benign (0) | 9 | CACNA1A - Episodic ataxia 2 |
| 770-A | TM Domain 2 | None | 9 | CACNA1A - Episodic ataxia |
| 772-D | TM Domain 2 | Arrhythmia (4) | 9 | CACNA1H - Epilepsy, childhood absence SCN3A - Epilepsy, focal |
| 775-Y | TM Domain 2 | None | 9 | CACNA1C - Long QT syndrome |
| 776-Y | TM Domain 2 | None | 9 | SCN1A - Dravet syndrome |
| 780-G | TM Domain 2 | None | 9 | SCN2A - Neurodevelopmental disorder |
| 783-I | TM Domain 2 | None | 9 | CACNA1C - Brugada syndrome CACNA1S - Exertional heat illness, Takotsubo (stress) cardiomyopathy |
| 791-L | TM Domain 2 | None | 5 | CACNA1F - Aland island eye disease & stationary night blindn SCN1A - Dravet syndrome C ? |
| 792-S | TM Domain 2 | None | 6 | SCN1A - Dravet syndrome |
| 795-E | TM Domain 2 | None | 5 | SCN1A - Dravet syndrome |
| 800-R | TM Domain 2 | Arrhythmia (2) | 6 | CACNA1H - Idiopathic epilepsy, generalised |
| 802-S | TM Domain 2 | None | 5 | SCN1A - Myoclonic epilepsy of infancy |
| 806-V | TM Domain 2 | Prob. Benign (0) | 9 | CACNA1A - Hemiplegic migraine, Hemiplegic migraine, cerebellar dysfunction & cogn |
| 807-L | TM Domain 2 | None | 9 | SCN9A - Erythermalgia, primary |
| 808-R | TM Domain 2 | Arrhythmia (4) | 9 | CACNA1A - Hemiplegic migraine and ataxia CACNA1S - Hypokalaemic periodic paralysis SCN1A - Generalized epilepsy with febrile seizures plus SCN2A - Intellectual disability, Schizophrenia SCN4A - Hypokalaemic periodic paralysis |
| 810-F | TM Domain 2 | None | 9 | SCN4A - Myotonia, non-dystrophic SCN8A - Migrating partial seizures of infancy |
| 811-R | TM Domain 2 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome C ?, Generalized epilepsy with febrile seizures plus, Migrating partial seizures of infancy SCN2A - West syndrome SCN4A - Hypokalaemic periodic paralysis |
| 812-L | TM Domain 2 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome |
| 814-R | TM Domain 2 | Arrhythmia (5) | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN2A - Epilepsy of infancy with migrating focal seizures SCN4A - Normokalaemic periodic paralysis SCN8A - Intellectual disability and epilepsy |
| 818-L | TM Domain 2 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 819-A | TM Domain 2 | None | 9 | SCN11A - Painful peripheral neuropathy |
| 821-S | TM Domain 2 | None | 9 | SCN1A - Dravet syndrome |
| 824-T | TM Domain 2 | None | 9 | SCN1A - Dravet syndrome, Generalised epilepsy with febrile seizures plus 2 |
| 825-L | TM Domain 2 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 826-N | TM Domain 2 | None | 9 | CACNA1H - Autism spectrum disorder ? |
| 828-L | TM Domain 2 | Arrhythmia (1) | 9 | SCN4A - Hyperkalaemic periodic paralysis |
| 831-I | TM Domain 2 | None | 9 | SCN2A - Epileptic encephalopathy, early infantile with mov |
| 832-I | TM Domain 2 | None | 9 | SCN4A - Myotonia & paralytic episodes, Myotonia, sodium channel, Paramyotonia congenita SCN9A - Erythermalgia, primary |
| 833-G | TM Domain 2 | Arrhythmia (3) | 9 | CACNA1A - Hemiplegic migraine and chronic headache SCN1A - Dravet syndrome |
| 834-N | TM Domain 2 | Arrhythmia (1) | 9 | SCN2A - Ohtahara syndrome |
| 837-G | TM Domain 2 | None | 9 | SCN11A - Painful peripheral neuropathy SCN2A - Epileptic encephalopathy, early infantile |
| 839-L | TM Domain 2 | Arrhythmia (3) | 9 | SCN1A - Dravet syndrome C ? SCN8A - Lennox-Gastaut syndrome |
| 840-G | TM Domain 2 | Arrhythmia (1) | 9 | SCN9A - Pain, dysautonomia & acromesomelia |
| 842-L | TM Domain 2 | None | 9 | CACNA1A - Paroxysmal head tremor, adult-onset SCN4A - paramyotonia congenita SCN9A - Erythermalgia, primary |
| 843-T | TM Domain 2 | Arrhythmia (2) | 9 | SCN4A - Hyperkalaemic periodic paralysis |
| 845-V | TM Domain 2 | None | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy, borderline |
| 846-L | TM Domain 2 | Other Cardiac (1) | 9 | CACNA1A - Episodic ataxia SCN1A - Dravet syndrome |
| 847-A | TM Domain 2 | None | 9 | SCN9A - Erythermalgia, primary |
| 848-I | TM Domain 2 | Arrhythmia (1) | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 850-V | TM Domain 2 | None | 9 | SCN2A - Neonatal-infantile seizures |
| 851-F | TM Domain 2 | Arrhythmia (3) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 854-A | TM Domain 2 | None | 9 | SCN4A - Myotonia SCN8A - Epileptic encephalopathy |
| 856-V | TM Domain 2 | None | 9 | SCN1A - Focal epilepsy SCN4A - Myotonia, non-dystrophic SCN9A - Erythermalgia, primary |
| 857-G | TM Domain 2 | Prob. Benign (0) | 9 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 859-Q | TM Domain 2 | None | 9 | SCN1A - Dravet syndrome SCN9A - Erythermalgia, primary |
| 863-K | TM Domain 2 | None | 9 | CACNA1A - Episodic ataxia 2 SCN2A - Epileptic encephalopathy |
| 866-S | TM Domain 2 | Prob. Benign (0) | 7 | SCN10A - Atrial fibrillation & slow ventricular rates |
| 874-G | TM Domain 2 | Prob. Benign (0) | 4 | SCN1A - Dravet syndrome |
| 878-R | TM Domain 2 | Arrhythmia (7) | 8 | SCN1A - Dravet syndrome, Epilepsy ?, Myoclonic epilepsy of infancy SCN9A - Congenital indifference to pain |
| 879-W | TM Domain 2 | None | 8 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 880-H | TM Domain 2 | None | 9 | SCN1A - Dravet syndrome C ? |
| 881-M | TM Domain 2 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN9A - Congenital indifference to pain |
| 882-M | TM Domain 2 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 883-D | TM Domain 2 | None | 9 | SCN1A - Dravet syndrome |
| 884-F | TM Domain 2 | None | 9 | SCN2A - Epileptic encephalopathy |
| 886-H | TM Domain 2 | Arrhythmia (2) | 9 | CACNA1H - Autism spectrum disorder ? SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 887-A | TM Domain 2 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 889-L | TM Domain 2 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 890-I | TM Domain 2 | Arrhythmia (1) | 9 | CACNA1S - Malignant hyperthermia SCN1A - Dravet syndrome |
| 891-I | TM Domain 2 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 892-F | TM Domain 2 | Arrhythmia (2) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 893-R | TM Domain 2 | Arrhythmia (4) | 9 | SCN10A - Brugada syndrome SCN1A - Dravet syndrome, Generalized epilepsy of infancy, Myoclonic epilepsy of infancy SCN2A - Intellectual disability, nonsyndromic |
| 895-L | TM Domain 2 | Prob. Benign (0) | 9 | CACNA1F - Night blindness, congenital stationary 2 |
| 896-C | TM Domain 2 | Arrhythmia (1) | 9 | CACNA1A - Hemiplegic migraine and episodic ataxia 2 SCN1A - Dravet syndrome SCN4A - Myotonia |
| 897-G | TM Domain 2 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 898-E | TM Domain 2 | None | 9 | CACNA1A - Head tremor, Spinocerebellar ataxia 6 |
| 899-W | TM Domain 2 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome B, Myoclonic epilepsy of infancy |
| 901-E | TM Domain 2 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome C ? |
| 903-M | TM Domain 2 | None | 9 | SCN1A - Dravet syndrome C ?, Febrile seizures plus |
| 904-W | TM Domain 2 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 906-C | TM Domain 2 | None | 9 | CACNA1H - Idiopathic epilepsy, generalised SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 907-M | TM Domain 2 | None | 8 | SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus ?, Myoclonic epilepsy of infancy |
| 914-L | TM Domain 2 | None | 9 | SCN9A - Congenital indifference to pain |
| 915-C | TM Domain 2 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome |
| 918-V | TM Domain 2 | None | 9 | SCN4A - Hyperkalaemic periodic paralysis |
| 920-L | TM Domain 2 | None | 9 | SCN1A - Cryptogenic generalised epilepsy, Dravet syndrome |
| 922-V | TM Domain 2 | None | 9 | SCN8A - Epileptic encephalopathy |
| 923-M | TM Domain 2 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 924-V | TM Domain 2 | Benign (2) | 9 | SCN1A - Dravet syndrome |
| 926-G | TM Domain 2 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome B ?, Myoclonic epilepsy of infancy |
| 927-N | TM Domain 2 | Arrhythmia (2) | 9 | CACNA1F - Night blindness, congenital stationary 2 |
| 929-V | TM Domain 2 | None | 9 | SCN1A - Dravet syndrome |
| 930-V | TM Domain 2 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 932-N | TM Domain 2 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN2A - Epileptic encephalopathy |
| 933-L | TM Domain 2 | None | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 934-F | TM Domain 2 | None | 9 | CACNA1E - Epileptic encephalopathy with infantile spasms CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Myoclonic epilepsy of infancy |
| 936-A | TM Domain 2 | None | 9 | CACNA1D - Autism SCN11A - Episodic pain syndrome SCN4A - Episodic laryngospasm, severe neonatal |
| 937-L | TM Domain 2 | None | 9 | CACNA1A - Episodic seizures, ataxia, and migraine with motor CACNA1D - Primary aldosteronism CACNA1F - Retinal disorder, X-linked SCN1A - Dravet syndrome |
| 938-L | TM Domain 2 | None | 9 | CACNA1A - Lennox-Gastaut syndrome |
| 939-L | TM Domain 2 | None | 9 | CACNA1A - Hemiplegic migraine and episodic ataxia 2 SCN11A - Congenital indifference to pain |
| 940-S | Interdomain Linker II-III | None | 9 | CACNA1A - Hemiplegic migraine, progressive cerebellar ataxia SCN1A - Dravet syndrome B ? |
| 941-S | Interdomain Linker II-III | None | 9 | SCN4A - Paramyotonia congenita |
| 942-F | Interdomain Linker II-III | None | 9 | SCN1A - Dravet syndrome |
| 943-S | Interdomain Linker II-III | None | 8 | SCN2A - Epileptic encephalopathy, early infantile |
| 945-D | Interdomain Linker II-III | Prob. Benign (0) | 5 | SCN1A - Dravet syndrome |
| 946-N | Interdomain Linker II-III | None | 5 | SCN8A - Intellectual disability and epilepsy |
| 953-D | Interdomain Linker II-III | Prob. Benign (0) | 4 | SCN1A - Epilepsy ? |
| 955-E | Interdomain Linker II-III | None | 4 | CACNA1C - Cardiomyopathy, hypertrophic SCN2A - Epileptic encephalopathy, early infantile, Ohtahara syndrome |
| 957-N | Interdomain Linker II-III | None | 4 | SCN2A - Neonatal-infantile seizures |
| 958-N | Interdomain Linker II-III | None | 4 | SCN1A - Myoclonic epilepsy of infancy |
| 959-L | Interdomain Linker II-III | Prob. Benign (0) | 4 | CACNA1S - Exertional heat illness SCN2A - Neonatal-infantile seizures |
| 969-G | Interdomain Linker II-III | Prob. Benign (0) | 2 | SCN11A - Painful peripheral neuropathy |
| 973-V | Interdomain Linker II-III | None | 4 | SCN9A - Small fibre neuropathy |
| 978-W | Interdomain Linker II-III | None | 3 | SCN9A - Paroxysmal extreme pain disorder |
| 981-C | Interdomain Linker II-III | Arrhythmia (1) | 3 | SCN1A - Autism ? |
| 985-L | Interdomain Linker II-III | Prob. Benign (0) | 2 | SCN1A - Autism ? |
| 998-Q | Interdomain Linker II-III | None | 2 | CACNA1A - Episodic ataxia 2 |
| 1015-E | Interdomain Linker II-III | Prob. Benign (0) | 1 | SCN4A - hyperkalemic periodic paralysis |
| 1016-T | Interdomain Linker II-III | Benign (2) | 1 | SCN8A - Cerebral palsy |
| 1018-K | Interdomain Linker II-III | Prob. Benign (0) | 2 | SCN1A - Dravet syndrome |
| 1034-P | Interdomain Linker II-III | None | 1 | SCN1A - Intractable epilepsy |
| 1041-D | Interdomain Linker II-III | Arrhythmia (1) | 1 | CACNA1G - Myoclonic epilepsy, juvenile |
| 1043-E | Interdomain Linker II-III | None | 2 | CACNA1E - Epileptic encephalopathy with infantile spasms |
| 1045-V | Interdomain Linker II-III | Prob. Benign (0) | 4 | CACNA1F - MRX |
| 1049-I | Interdomain Linker II-III | None | 5 | SCN10A - Atrial fibrillation |
| 1059-Q | Interdomain Linker II-III | None | 2 | CACNA1H - Idiopathic epilepsy, generalised |
| 1070-E | Interdomain Linker II-III | None | 2 | SCN2A - Acute encephalitis with refractory, repetitive par |
| 1073-S | Interdomain Linker II-III | None | 2 | CACNA1A - Reduced function |
| 1095-W | Interdomain Linker II-III | Arrhythmia (1) | 1 | CACNA1C - Long QT syndrome |
| 1096-S | Interdomain Linker II-III | None | 1 | CACNA1C - Long QT syndrome |
| 1106-A | Interdomain Linker II-III | Other Cardiac (1) | 0 | CACNA1A - Epilepsy, idiopathic |
| 1133-E | Interdomain Linker II-III | None | 2 | SCN10A - Brugada syndrome |
| 1146-N | Interdomain Linker II-III | None | 2 | SCN9A - Dravet syndrome ? |
| 1148-A | Interdomain Linker II-III | Prob. Benign (0) | 1 | SCN4A - Normokalaemic periodic paralysis with involuntary |
| 1150-L | Interdomain Linker II-III | None | 1 | CACNA1C - Long QT, non-syndromic SCN10A - Sudden unexplained death |
| 1155-P | Interdomain Linker II-III | Prob. Benign (0) | 1 | SCN8A - Hyperinsulinism |
| 1159-Q | Interdomain Linker II-III | None | 1 | SCN3A - Epilepsy, focal |
| 1161-V | Interdomain Linker II-III | None | 1 | SCN1A - Hemiplegic migraine |
| 1171-G | Interdomain Linker II-III | None | 2 | CACNA1H - Epilepsy, childhood absence |
| 1174-R | Interdomain Linker II-III | Prob. Benign (0) | 1 | SCN10A - Brugada syndrome |
| 1184-T | Interdomain Linker II-III | None | 4 | SCN9A - Dravet syndrome ? |
| 1185-Q | Interdomain Linker II-III | None | 4 | CACNA1F - Cone-rod dystrophy |
| 1191-W | Interdomain Linker II-III | None | 6 | SCN1A - Generalized epilepsy with febrile seizures plus, Generalized epilepsy with febrile seizures plus ?, Myoclonic epilepsy of infancy |
| 1194-L | Interdomain Linker II-III | Arrhythmia (1) | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Myoclonic epilepsy of infancy |
| 1195-R | Interdomain Linker II-III | Other Cardiac (1) | 9 | SCN1A - Dravet syndrome B ? |
| 1197-T | Interdomain Linker II-III | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1200-H | Interdomain Linker II-III | None | 9 | SCN1A - Intractable epilepsy, Myoclonic epilepsy of infancy |
| 1201-I | TM Domain 3 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
| 1206-W | TM Domain 3 | Other Cardiac (1) | 9 | CACNA1A - Hemiplegic migraine |
| 1208-E | TM Domain 3 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ? SCN2A - Neonatal-infantile seizures |
| 1217-L | TM Domain 3 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus ? |
| 1218-S | TM Domain 3 | Arrhythmia (1) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1220-G | TM Domain 3 | None | 9 | CACNA1S - Takotsubo (stress) cardiomyopathy SCN1A - Myoclonic epilepsy of infancy |
| 1223-A | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome |
| 1225-E | TM Domain 3 | Arrhythmia (6) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1226-D | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome |
| 1232-R | TM Domain 3 | Arrhythmia (9) | 7 | SCN1A - Myoclonic epilepsy of infancy |
| 1236-K | TM Domain 3 | Arrhythmia (2) | 8 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1237-V | TM Domain 3 | None | 8 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1241-Y | TM Domain 3 | Arrhythmia (1) | 9 | SCN1A - Intractable epilepsy |
| 1242-A | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome |
| 1243-D | TM Domain 3 | Arrhythmia (4) | 9 | SCN4A - Myopathy, congenital |
| 1246-F | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome |
| 1247-T | TM Domain 3 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
| 1250-F | TM Domain 3 | Arrhythmia (2) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1252-L | TM Domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1253-E | TM Domain 3 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome C ? |
| 1257-K | TM Domain 3 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus SCN2A - Epileptic encephalopathy, early infantile |
| 1260-A | TM Domain 3 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome SCN9A - Congenital indifference to pain |
| 1261-Y | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus |
| 1262-G | TM Domain 3 | Arrhythmia (3) | 9 | CACNA1E - Autism CACNA1F - Night blindness, congenital stationary 2 SCN1A - Dravet syndrome, Epileptic encephalopathy |
| 1263-F | TM Domain 3 | None | 8 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 1269-N | TM Domain 3 | Arrhythmia (1) | 9 | CACNA1F - Congenital stationary night blindness |
| 1271-W | TM Domain 3 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome |
| 1272-C | TM Domain 3 | None | 9 | CACNA1F - Congenital stationary night blindness |
| 1274-L | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome |
| 1275-D | TM Domain 3 | Arrhythmia (15) | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Dravet syndrome C ? |
| 1278-I | TM Domain 3 | Arrhythmia (1) | 9 | SCN10A - Brugada syndrome |
| 1279-V | TM Domain 3 | None | 9 | CACNA1S - Hypokalaemic periodic paralysis SCN2A - Schizophrenia |
| 1287-V | TM Domain 3 | None | 7 | SCN1A - Dravet syndrome |
| 1291-L | TM Domain 3 | None | 7 | SCN9A - Dravet syndrome ? |
| 1292-G | TM Domain 3 | None | 7 | CACNA1A - Hemiplegic migraine |
| 1295-E | TM Domain 3 | Arrhythmia (1) | 8 | CACNA1A - Cerebellar ataxia SCN1A - Febrile seizures |
| 1296-M | TM Domain 3 | Prob. Benign (0) | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1300-K | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome SCN4A - Normokalaemic periodic paralysis with involuntary |
| 1303-R | TM Domain 3 | Prob. Benign (0) | 9 | CACNA1A - Hemiplegic migraine, progressive cerebellar ataxia CACNA1S - Hypokalaemic periodic paralysis SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN4A - Periodic paralysis |
| 1305-L | TM Domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1306-R | TM Domain 3 | Prob. Benign (0) | 9 | CACNA1A - Ataxia, mental retardation and dyskinesia CACNA1S - Hypokalaemic periodic paralysis SCN4A - Hypokalaemic periodic paralysis |
| 1307-A | TM Domain 3 | None | 9 | CACNA1A - Paroxysmal tonic upward gaze SCN1A - Dravet syndrome B ? |
| 1309-R | TM Domain 3 | Other Cardiac (1) | 9 | SCN1A - Dravet syndrome SCN2A - Neonatal-infantile seizures SCN4A - Hyperkalaemic periodic paralysis, Hypokalaemic periodic paralysis |
| 1310-P | TM Domain 3 | None | 9 | CACNA1A - Hypotonia and developmental delay SCN1A - Dravet syndrome |
| 1312-R | TM Domain 3 | None | 9 | SCN1A - Intractable epilepsy |
| 1313-A | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome, Epilepsy-aphasia, Myoclonic epilepsy of infancy |
| 1314-L | TM Domain 3 | None | 9 | SCN11A - Painful peripheral neuropathy |
| 1315-S | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome |
| 1316-R | TM Domain 3 | Other Cardiac (1) | 9 | CACNA1A - Episodic ataxia 2 SCN2A - Neonatal-infantile seizures |
| 1318-E | TM Domain 3 | None | 9 | SCN2A - Seizures, benign infantile |
| 1320-M | TM Domain 3 | Prob. Benign (0) | 9 | SCN1A - Generalized epilepsy with febrile seizures plus SCN2A - Ohtahara syndrome |
| 1321-R | TM Domain 3 | None | 9 | SCN10A - Brugada syndrome |
| 1322-V | TM Domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN8A - Epileptic encephalopathy, infantile SCN9A - Paroxysmal extreme pain disorder |
| 1323-V | TM Domain 3 | Arrhythmia (2) | 9 | SCN2A - Migrating focal seizures of infancy, Ohtahara syndrome SCN4A - Episodic paralyses and myotonic discharges SCN9A - Paroxysmal extreme pain disorder |
| 1324-V | TM Domain 3 | None | 9 | CACNA1A - Nystagmus and late-onset ataxia |
| 1325-N | TM Domain 3 | Arrhythmia (9) | 9 | SCN1A - Dravet syndrome |
| 1326-A | TM Domain 3 | Arrhythmia (1) | 9 | CACNA1A - Hemiplegic migraine SCN1A - Myoclonic epilepsy of infancy SCN4A - Paramyotonia congenita |
| 1327-L | TM Domain 3 | None | 9 | SCN2A - Neonatal-infantile seizures |
| 1330-A | TM Domain 3 | Arrhythmia (3) | 9 | CACNA1A - Encephalopathy, epileptic SCN4A - Paramyotonia congenita SCN8A - Epileptic encephalopathy, infantile |
| 1331-I | TM Domain 3 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1332-P | TM Domain 3 | Arrhythmia (6) | 9 | SCN1A - Epilepsy of infancy with migrating focal seizures, Epileptic encephalopathy, early onset SCN4A - Hypokalaemic periodic paralysis, Myotonia SCN9A - Erythermalgia, primary |
| 1333-S | TM Domain 3 | Arrhythmia (2) | 9 | SCN2A - Ohtahara syndrome |
| 1334-I | TM Domain 3 | Arrhythmia (1) | 9 | SCN4A - Hyperkalaemic periodic paralysis SCN8A - Epileptic encephalopathy, multiple congenital anom |
| 1335-M | TM Domain 3 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome SCN2A - Ohtahara syndrome |
| 1337-V | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome C ? |
| 1338-L | TM Domain 3 | Arrhythmia (1) | 9 | SCN2A - Autism spectrum disorder SCN8A - Epileptic encephalopathy |
| 1339-L | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome SCN2A - Epileptic encephalopathy |
| 1340-V | TM Domain 3 | Arrhythmia (3) | 9 | SCN11A - Cold-aggravated peripheral pain SCN1A - Generalized epilepsy with febrile seizures plus SCN9A - Erythermalgia, primary |
| 1341-C | TM Domain 3 | None | 9 | CACNA1A - Hemiplegic migraine, coma, cerebellar atrophy SCN1A - Dravet syndrome |
| 1342-L | TM Domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1344-F | TM Domain 3 | Arrhythmia (2) | 9 | SCN1A - Intractable epilepsy |
| 1345-W | TM Domain 3 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome C, Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 1349-S | TM Domain 3 | None | 9 | CACNA1F - Cone-rod dystrophy SCN1A - Dravet syndrome |
| 1350-I | TM Domain 3 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome |
| 1352-G | TM Domain 3 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN10A - Brugada syndrome |
| 1353-V | TM Domain 3 | Arrhythmia (2) | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1354-N | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome SCN4A - Myotonia, neonatal-onset |
| 1357-A | TM Domain 3 | Arrhythmia (2) | 9 | SCN10A - Peripheral neuropathy, painful SCN1A - Dravet syndrome B ? |
| 1358-G | TM Domain 3 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome |
| 1359-K | TM Domain 3 | Arrhythmia (1) | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1360-F | TM Domain 3 | Arrhythmia (2) | 9 | CACNA1A - Episodic ataxia 2 |
| 1363-C | TM Domain 3 | Arrhythmia (2) | 9 | SCN1A - Intractable epilepsy |
| 1365-N | TM Domain 3 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome C ? |
| 1367-T | TM Domain 3 | None | 8 | CACNA1H - Epilepsy, childhood absence |
| 1369-G | TM Domain 3 | None | 6 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1371-L | TM Domain 3 | None | 6 | SCN3A - Epilepsy, focal |
| 1373-L | TM Domain 3 | None | 4 | SCN1A - Myoclonic epilepsy of infancy |
| 1378-V | TM Domain 3 | Arrhythmia (1) | 4 | SCN1A - Generalised epilepsy with febrile seizures plus 2, Myoclonic epilepsy of infancy |
| 1379-N | TM Domain 3 | None | 5 | SCN1A - Dravet syndrome |
| 1380-N | TM Domain 3 | Arrhythmia (2) | 4 | SCN10A - Brugada syndrome |
| 1381-K | TM Domain 3 | None | 4 | CACNA1I - Schizophrenia SCN1A - Myoclonic epilepsy of infancy |
| 1382-S | TM Domain 3 | Arrhythmia (3) | 4 | SCN1A - Dravet syndrome C ? |
| 1383-Q | TM Domain 3 | None | 4 | CACNA1S - Schizophrenia SCN1A - Myoclonic epilepsy of infancy |
| 1384-C | TM Domain 3 | None | 5 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy SCN4A - Myopathy, congenital |
| 1389-L | TM Domain 3 | None | 3 | SCN10A - Brugada syndrome |
| 1392-E | TM Domain 3 | None | 3 | SCN1A - Myoclonic epilepsy of infancy |
| 1393-L | TM Domain 3 | None | 7 | CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Dravet syndrome |
| 1395-W | TM Domain 3 | None | 9 | CACNA1A - Epileptic encephalopathy, early onset with progres |
| 1401-N | TM Domain 3 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus ?, Myoclonic epilepsy of infancy |
| 1402-F | TM Domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1403-D | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome |
| 1404-N | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome C ? |
| 1405-V | TM Domain 3 | Arrhythmia (3) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1409-Y | TM Domain 3 | Arrhythmia (2) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1410-L | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome C ? |
| 1412-L | TM Domain 3 | Arrhythmia (2) | 9 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 1413-L | TM Domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1414-Q | TM Domain 3 | None | 9 | CACNA1S - Malignant hyperthermia SCN1A - Myoclonic epilepsy of infancy |
| 1415-V | TM Domain 3 | None | 9 | CACNA1A - Hemiplegic migraine SCN1A - Febrile seizures |
| 1416-A | TM Domain 3 | Arrhythmia (1) | 9 | SCN1A - Developmental disorder and intellectual disability, Intractable epilepsy |
| 1417-T | TM Domain 3 | None | 9 | SCN2A - Autism spectrum disorder |
| 1418-F | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome |
| 1419-K | TM Domain 3 | Arrhythmia (2) | 9 | CACNA1C - Brugada syndrome (shorter-than-normal QT interval) SCN1A - Dravet syndrome SCN2A - Spasms, infantile, and bitemporal glucose hypometa |
| 1420-G | TM Domain 3 | Arrhythmia (3) | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 1421-W | TM Domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1424-I | TM Domain 3 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
| 1427-A | TM Domain 3 | Arrhythmia (2) | 9 | SCN1A - Autism spectrum disorder, Dravet syndrome |
| 1428-A | TM Domain 3 | Arrhythmia (6) | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1432-R | TM Domain 3 | Arrhythmia (5) | 9 | SCN10A - Brugada syndrome |
| 1437-Q | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus, Myoclonic epilepsy of infancy |
| 1438-P | TM Domain 3 | Arrhythmia (3) | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 1440-W | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy, borderline |
| 1441-E | TM Domain 3 | Arrhythmia (2) | 9 | CACNA1A - Episodic ataxia 2 SCN1A - Dravet syndrome C ? |
| 1443-N | TM Domain 3 | Arrhythmia (1) | 9 | CACNA1C - Autism spectrum disorder |
| 1448-I | TM Domain 3 | Arrhythmia (5) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1449-Y | TM Domain 3 | Arrhythmia (4) | 9 | CACNA1A - Episodic ataxia 2 SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 1450-F | TM Domain 3 | None | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1452-I | TM Domain 3 | None | 9 | CACNA1A - Episodic ataxia 2 |
| 1457-G | TM Domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy SCN8A - Intellectual disability and epilepsy |
| 1458-S | TM Domain 3 | Arrhythmia (2) | 9 | SCN10A - Brugada syndrome SCN1A - Dravet syndrome |
| 1459-F | TM Domain 3 | None | 9 | SCN1A - Myoclonic epilepsy, borderline |
| 1462-L | TM Domain 3 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1463-N | TM Domain 3 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome B ? |
| 1464-L | TM Domain 3 | None | 9 | CACNA1H - Aldosteronism, primary SCN11A - Congenital indifference to pain |
| 1465-F | TM Domain 3 | None | 9 | CACNA1A - Hemiplegic migraine |
| 1467-G | TM Domain 3 | None | 9 | CACNA1A - Epileptic encephalopathy, early onset SCN1A - Myoclonic-astatic epilepsy SCN2A - Autism spectrum disorder SCN4A - Myotonia, non-dystrophic |
| 1468-V | TM Domain 3 | Arrhythmia (2) | 9 | SCN4A - Paramyotonia congenita |
| 1470-I | TM Domain 3 | None | 9 | CACNA1C - Long QT, non-syndromic, Timothy syndrome SCN1A - Epilepsy ? SCN2A - Neonatal-infantile seizures |
| 1471-D | Interdomain Linker III-IV | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
| 1472-N | Interdomain Linker III-IV | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN4A - Myotonia, non-dystrophic SCN8A - Epileptic encephalopathy, infantile |
| 1473-F | Interdomain Linker III-IV | Arrhythmia (4) | 9 | SCN9A - Erythermalgia, primary |
| 1476-Q | Interdomain Linker III-IV | Arrhythmia (1) | 7 | SCN1A - Hemiplegic migraine, Hemiplegic migraine 2 SCN2A - Epileptic encephalopathy, early infantile |
| 1478-K | Interdomain Linker III-IV | None | 5 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 1481-G | Interdomain Linker III-IV | Arrhythmia (2) | 4 | SCN4A - Myotonia, Paramyotonia congenita |
| 1485-I | Interdomain Linker III-IV | Arrhythmia (1) | 5 | SCN1A - Hemiplegic migraine SCN8A - Epileptic encephalopathy SCN9A - Paroxysmal extreme pain disorder |
| 1486-F | Interdomain Linker III-IV | Other Cardiac (3) | 6 | SCN1A - Hemiplegic migraine 2 SCN9A - Paroxysmal extreme pain disorder |
| 1487-M | Interdomain Linker III-IV | Arrhythmia (1) | 5 | SCN1A - Hemiplegic migraine 3 |
| 1488-T | Interdomain Linker III-IV | Arrhythmia (1) | 5 | SCN4A - Hyperkalaemic periodic paralysis, Paramyotonia congenita SCN9A - Paroxysmal extreme pain disorder |
| 1489-E | Interdomain Linker III-IV | Arrhythmia (1) | 5 | SCN8A - Infantile seizures, benign and paroxysmal dyskines |
| 1490-E | Interdomain Linker III-IV | None | 3 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1495-Y | Interdomain Linker III-IV | Arrhythmia (1) | 3 | CACNA1S - Hypokalaemic periodic paralysis, Malignant hyperthermia |
| 1497-A | Interdomain Linker III-IV | None | 3 | CACNA1A - Hemiplegic migraine SCN1A - Lennox-Gastaut syndrome |
| 1498-M | Interdomain Linker III-IV | Arrhythmia (3) | 3 | SCN1A - Intractable epilepsy |
| 1501-L | Interdomain Linker III-IV | Arrhythmia (6) | 2 | SCN1A - Dravet syndrome |
| 1502-G | Interdomain Linker III-IV | Arrhythmia (2) | 2 | SCN1A - Lenox–Gastaut syndrome |
| 1503-S | Interdomain Linker III-IV | Arrhythmia (1) | 3 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1506-P | Interdomain Linker III-IV | Arrhythmia (2) | 4 | SCN1A - Dravet syndrome |
| 1510-I | Interdomain Linker III-IV | None | 5 | SCN1A - Dravet syndrome |
| 1512-R | Interdomain Linker III-IV | Arrhythmia (7) | 5 | SCN4A - Myotonia, sodium channel |
| 1517-Y | Interdomain Linker III-IV | None | 6 | CACNA1H - Idiopathic epilepsy, generalised |
| 1519-G | Interdomain Linker III-IV | None | 9 | SCN2A - Epileptic encephalopathy |
| 1525-V | TM Domain 4 | Arrhythmia (3) | 9 | SCN1A - Dravet syndrome |
| 1526-T | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome |
| 1528-Q | TM Domain 4 | None | 9 | SCN2A - Seizures, benign infantile |
| 1530-F | TM Domain 4 | None | 9 | SCN1A - Cryptogenic focal epilepsy |
| 1531-D | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ? |
| 1532-V | TM Domain 4 | Arrhythmia (4) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1535-M | TM Domain 4 | None | 9 | SCN4A - Hyperkalaemic periodic paralysis |
| 1538-I | TM Domain 4 | None | 9 | SCN4A - Paramyotonia congenita |
| 1539-C | TM Domain 4 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
| 1542-M | TM Domain 4 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1545-M | TM Domain 4 | None | 9 | SCN4A - Hyperkalaemic periodic paralysis |
| 1548-E | TM Domain 4 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome |
| 1556-K | TM Domain 4 | None | 9 | SCN9A - Small fibre neuropathy |
| 1560-L | TM Domain 4 | Arrhythmia (1) | 9 | SCN2A - Neonatal-infantile seizures |
| 1562-K | TM Domain 4 | None | 9 | SCN1A - Rasmussen encephalitis SCN9A - Chronic non-paroxysmal neuropathic pain |
| 1563-I | TM Domain 4 | None | 9 | SCN1A - Phenotype modifier |
| 1566-L | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome |
| 1568-V | TM Domain 4 | None | 9 | SCN4A - Paramyotonia congenita |
| 1570-I | TM Domain 4 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 1573-G | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome |
| 1575-C | TM Domain 4 | None | 9 | SCN10A - Atrial fibrillation SCN1A - Myoclonic epilepsy of infancy |
| 1576-I | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome |
| 1579-L | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome B ?, Dravet syndrome C ? |
| 1583-R | TM Domain 4 | Arrhythmia (4) | 9 | SCN1A - Cryptogenic focal epilepsy, Dravet syndrome, Generalized epilepsy with febrile seizures plus ? |
| 1584-H | TM Domain 4 | None | 8 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1585-Y | TM Domain 4 | Prob. Benign (0) | 9 | CACNA1H - Epilepsy with auditory features |
| 1586-Y | TM Domain 4 | None | 9 | SCN2A - Neonatal-infantile seizures, benign familial |
| 1590-S | TM Domain 4 | None | 9 | SCN2A - Epilepsy of infancy with migrating focal seizures |
| 1592-N | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome B ? |
| 1593-I | TM Domain 4 | Arrhythmia (1) | 9 | SCN2A - Neonatal-infantile seizures ? |
| 1594-F | TM Domain 4 | Arrhythmia (1) | 9 | SCN4A - hyperkalemic periodic paralysis |
| 1595-D | TM Domain 4 | Other Cardiac (3) | 9 | SCN1A - Myoclonic epilepsy of infancy SCN2A - Intellectual disability, developmental delay, seiz |
| 1598-V | TM Domain 4 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy SCN8A - Epileptic encephalopathy |
| 1599-V | TM Domain 4 | None | 9 | CACNA1H - Amyotrophic lateral sclerosis SCN1A - Dravet syndrome |
| 1602-S | TM Domain 4 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN8A - Intellectual disability and epilepsy |
| 1603-I | TM Domain 4 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1606-T | TM Domain 4 | Prob. Benign (0) | 9 | SCN1A - Intractable epilepsy |
| 1608-L | TM Domain 4 | None | 9 | SCN4A - Hyperkalaemic periodic paralysis |
| 1609-S | TM Domain 4 | Arrhythmia (2) | 9 | SCN4A - Myotonia, non-dystrophic |
| 1611-I | TM Domain 4 | None | 9 | SCN1A - Hemiplegic migraine SCN4A - Paramyotonia congenita SCN8A - Epileptic encephalopathy |
| 1617-F | TM Domain 4 | None | 5 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy, Myoclonic epilepsy, borderline SCN4A - Congenital myasthenic syndrome ? |
| 1619-P | TM Domain 4 | Prob. Benign (0) | 6 | SCN1A - Myoclonic epilepsy of infancy |
| 1620-T | TM Domain 4 | Arrhythmia (10) | 7 | SCN2A - Ohtahara syndrome |
| 1623-R | TM Domain 4 | Arrhythmia (19) | 6 | CACNA1A - Episodic ataxia 2 CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Lennox-Gastaut syndrome SCN2A - Seizures, benign infantile SCN4A - Myotonia, Paramyotonia congenita SCN8A - Intellectual disability, nonsyndromic |
| 1624-V | TM Domain 4 | None | 6 | SCN1A - Hepatic coma |
| 1625-I | TM Domain 4 | None | 6 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy |
| 1626-R | TM Domain 4 | Arrhythmia (8) | 6 | CACNA1A - Spinocerebellar ataxia 6 CACNA1S - Hypokalaemic periodic paralysis SCN1A - Dravet syndrome SCN2A - Epileptic encephalopathy, early onset SCN4A - Periodic paralysis |
| 1627-L | TM Domain 4 | None | 6 | SCN8A - Intellectual disability and epilepsy |
| 1629-R | TM Domain 4 | Arrhythmia (3) | 4 | CACNA1G - Cerebellar ataxia, autosomal dominant SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN4A - Congenital myasthenic syndrome with periodic paral |
| 1631-G | TM Domain 4 | Arrhythmia (1) | 7 | SCN2A - Ohtahara syndrome SCN4A - Paramyotonia congenita, von Eulenburg SCN9A - Paroxysmal extreme pain disorder |
| 1632-R | TM Domain 4 | Arrhythmia (5) | 7 | CACNA1A - Hemiplegic migraine with cerebellar signs CACNA1S - Normokalaemic periodic paralysis SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN4A - Congenital myasthenic syndrome |
| 1633-I | TM Domain 4 | None | 7 | SCN4A - Paramyotonia congenita |
| 1635-R | TM Domain 4 | None | 9 | CACNA1A - Hemiplegic migraine SCN1A - Generalised epilepsy with febrile seizures plus 2, Myoclonic epilepsy of infancy SCN4A - Myotonia |
| 1636-L | TM Domain 4 | None | 9 | SCN1A - Hemiplegic migraine SCN4A - Myotonia SCN9A - Paroxysmal extreme pain disorder |
| 1638-R | TM Domain 4 | Prob. Benign (0) | 9 | SCN10A - Atrial fibrillation SCN2A - Seizures, benign infantile |
| 1640-A | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome B ? |
| 1643-I | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus |
| 1644-R | TM Domain 4 | Arrhythmia (10) | 9 | CACNA1A - Episodic ataxia 2 SCN1A - Cryptogenic focal epilepsy, Generalized epilepsy with febrile seizures plus |
| 1645-T | TM Domain 4 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1647-L | TM Domain 4 | None | 9 | CACNA1A - Hemiplegic migraine SCN1A - Dravet syndrome C ? SCN2A - Epileptic encephalopathy, early infantile |
| 1648-F | TM Domain 4 | None | 9 | CACNA1A - Hemiplegic migraine with cerebellar signs SCN1A - Hemiplegic migraine, Myoclonic epilepsy of infancy SCN4A - Paramyotonia congenita |
| 1649-A | TM Domain 4 | Arrhythmia (2) | 9 | SCN1A - Myoclonic epilepsy, borderline |
| 1651-M | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome SCN4A - Myotonia, Paramyotonia congenita SCN8A - Partial seizures with intellectual / developmental SCN9A - Paroxysmal extreme pain disorder |
| 1653-S | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome |
| 1654-L | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome C ? |
| 1655-P | TM Domain 4 | None | 9 | CACNA1S - Myopathy SCN1A - Dravet syndrome, Dravet syndrome B ?, Myoclonic epilepsy of infancy |
| 1656-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, |
| 1657-L | TM Domain 4 | None | 9 | SCN2A - Encephalopathy, recurrent |
| 1659-N | TM Domain 4 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ? |
| 1660-I | TM Domain 4 | Arrhythmia (5) | 9 | CACNA1A - Hemipl. migraine/alternating hemipl. of childhood, Hemiplegic migraine SCN1A - Dravet syndrome C ?, Generalised epilepsy with febrile seizures plus |
| 1661-G | TM Domain 4 | Arrhythmia (3) | 9 | SCN1A - Acute encephalopathy with biphasic seizures & late, Myoclonic epilepsy of infancy |
| 1662-L | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome |
| 1664-L | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome |
| 1670-I | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome C ?, Epilepsy ? SCN4A - Hyperkalaemic periodic paralysis |
| 1671-Y | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome B, Dravet syndrome C ?, Intractable epilepsy |
| 1672-S | TM Domain 4 | Arrhythmia (2) | 9 | SCN1A - Febrile seizures, Myoclonic epilepsy of infancy |
| 1674-F | TM Domain 4 | None | 9 | CACNA1A - Hemiplegic migraine SCN1A - Myoclonic epilepsy of infancy |
| 1675-G | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ? |
| 1679-F | TM Domain 4 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1680-A | TM Domain 4 | Arrhythmia (4) | 9 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 1681-Y | TM Domain 4 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1685-E | TM Domain 4 | Other Cardiac (2) | 6 | CACNA1A - Hemiplgic migraine ? |
| 1689-D | TM Domain 4 | Prob. Benign (0) | 9 | SCN10A - Painful small fibre neuropathy with gastroparesis SCN1A - Dravet syndrome |
| 1690-D | TM Domain 4 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome |
| 1691-M | TM Domain 4 | None | 9 | CACNA1A - Episodic ataxia 2 |
| 1694-F | TM Domain 4 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1696-T | TM Domain 4 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1700-S | TM Domain 4 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1701-M | TM Domain 4 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1703-C | TM Domain 4 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Myoclonic epilepsy of infancy |
| 1704-L | TM Domain 4 | None | 9 | CACNA1A - Episodic ataxia 2 SCN1A - Dravet syndrome |
| 1706-Q | TM Domain 4 | Arrhythmia (1) | 9 | CACNA1A - Episodic ataxia 2 |
| 1708-T | TM Domain 4 | Arrhythmia (1) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1709-T | TM Domain 4 | Arrhythmia (3) | 9 | SCN1A - Dravet syndrome |
| 1710-S | TM Domain 4 | Arrhythmia (4) | 9 | CACNA1A - Epilepsy with typical absence seizures |
| 1711-A | TM Domain 4 | None | 9 | CACNA1A - Episodic ataxia 2 SCN1A - Intractable epilepsy |
| 1712-G | TM Domain 4 | Arrhythmia (2) | 9 | SCN10A - Small fibre neuropathy SCN1A - Dravet syndrome SCN4A - Essential tremor |
| 1713-W | TM Domain 4 | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1714-D | TM Domain 4 | Arrhythmia (3) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1715-G | TM Domain 4 | None | 9 | CACNA1F - Usher syndrome ? |
| 1719-P | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome |
| 1726-P | TM Domain 4 | None | 6 | SCN1A - Generalized epilepsy with febrile seizures plus ? |
| 1728-C | TM Domain 4 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome, Lennox-Gastaut syndrome, Myoclonic epilepsy of infancy |
| 1729-D | TM Domain 4 | Prob. Benign (0) | 8 | SCN1A - Dravet syndrome, late-onset, Generalized epilepsy with febrile seizures plus |
| 1731-T | TM Domain 4 | None | 7 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1738-S | TM Domain 4 | Prob. Benign (0) | 3 | SCN4A - Seizures |
| 1740-G | TM Domain 4 | Arrhythmia (5) | 3 | SCN1A - Dravet syndrome SCN2A - Autism spectrum disorder |
| 1741-D | TM Domain 4 | Prob. Benign (0) | 3 | SCN1A - Dravet syndrome |
| 1742-C | TM Domain 4 | None | 5 | SCN1A - Myoclonic epilepsy of infancy SCN9A - Congenital indifference to pain |
| 1743-G | TM Domain 4 | Arrhythmia (9) | 5 | SCN1A - Dravet syndrome |
| 1744-S | TM Domain 4 | None | 5 | CACNA1S - Malignant hyperthermia |
| 1747-V | TM Domain 4 | Arrhythmia (1) | 9 | SCN10A - Brugada syndrome |
| 1748-G | TM Domain 4 | Arrhythmia (1) | 9 | SCN1A - Febrile seizures ?, Myoclonic epilepsy of infancy |
| 1749-I | TM Domain 4 | None | 9 | SCN1A - Dravet syndrome C ? |
| 1751-F | TM Domain 4 | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Partial epilepsy with febrile seizures plus |
| 1755-Y | TM Domain 4 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1756-I | TM Domain 4 | None | 9 | SCN10A - Small fibre neuropathy SCN1A - Dravet syndrome B ?, Epilepsy ? |
| 1757-I | TM Domain 4 | None | 9 | SCN1A - Cryptogenic focal epilepsy, Dravet syndrome |
| 1759-S | TM Domain 4 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1760-F | TM Domain 4 | None | 9 | CACNA1A - Episodic ataxia 2 SCN8A - Epileptic encephalopathy, infantile |
| 1763-V | TM Domain 4 | Arrhythmia (5) | 9 | SCN4A - Myotonia SCN9A - Paroxysmal extreme pain disorder |
| 1765-N | TM Domain 4 | None | 9 | SCN10A - Brugada syndrome |
| 1766-M | TM Domain 4 | Arrhythmia (5) | 9 | SCN1A - Myoclonic epilepsy of infancy SCN2A - Epileptic encephalopathy, neonatal SCN4A - Hyperkalaemic periodic paralysis |
| 1767-Y | TM Domain 4 | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1768-I | TM Domain 4 | Arrhythmia (8) | 9 | SCN1A - Dravet syndrome |
| 1769-A | TM Domain 4 | Prob. Benign (0) | 9 | CACNA1C - Timothy syndrome SCN1A - Myoclonic epilepsy of infancy SCN9A - Erythromelalgia |
| 1771-I | TM Domain 4 | Prob. Benign (0) | 9 | CACNA1A - Hemiplegic migraine and episodic ataxia 2 CACNA1C - Long QT, non-syndromic |
| 1773-E | C-terminus | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1774-N | C-terminus | Arrhythmia (4) | 9 | SCN8A - Epileptic encephalopathy, infantile |
| 1778-A | C-terminus | None | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1781-E | C-terminus | Arrhythmia (1) | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1789-D | C-terminus | None | 8 | CACNA1H - Autism spectrum disorder ? SCN2A - Epilepsy, idiopathic |
| 1793-M | C-terminus | None | 8 | CACNA1C - Long QT, non-syndromic |
| 1794-F | C-terminus | None | 8 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1798-W | C-terminus | None | 8 | CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN9A - Congenital indifference to pain |
| 1807-Q | C-terminus | None | 9 | SCN4A - Myotonia, potassium-aggravated SCN8A - Epileptic encephalopathy |
| 1809-I | C-terminus | Prob. Benign (0) | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1817-F | C-terminus | None | 9 | SCN1A - Myoclonic epilepsy of infancy |
| 1818-A | C-terminus | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Dravet syndrome C ? |
| 1819-D | C-terminus | Arrhythmia (3) | 9 | CACNA1C - Autism spectrum disorder |
| 1821-L | C-terminus | None | 9 | SCN1A - Dravet syndrome |
| 1824-P | C-terminus | Arrhythmia (1) | 8 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 1825-L | C-terminus | Arrhythmia (3) | 8 | SCN1A - Dravet syndrome SCN2A - Epileptic encephalopathy, early infantile |
| 1826-R | C-terminus | Arrhythmia (6) | 7 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 1830-P | C-terminus | None | 5 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 1835-L | C-terminus | None | 9 | CACNA1F - Night blindness, congenital stationary, incomplete |
| 1838-M | C-terminus | None | 9 | SCN1A - Dravet syndrome C ?, Generalized epilepsy with febrile seizures plus |
| 1841-P | C-terminus | None | 8 | SCN1A - Dravet syndrome C ? |
| 1842-M | C-terminus | Prob. Benign (0) | 8 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1843-V | C-terminus | None | 6 | SCN1A - Generalised epilepsy with febrile seizures plus 2 |
| 1847-R | C-terminus | Arrhythmia (1) | 9 | SCN1A - Intractable epilepsy |
| 1849-H | C-terminus | Other Cardiac (1) | 9 | SCN2A - Ohtahara syndrome |
| 1852-D | C-terminus | Prob. Benign (0) | 7 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1853-I | C-terminus | None | 8 | SCN1A - Generalized epilepsy with febrile seizures plus |
| 1857-F | C-terminus | None | 8 | SCN11A - Painful peripheral neuropathy |
| 1866-G | C-terminus | None | 3 | SCN1A - Dravet syndrome C ? |
| 1867-E | C-terminus | None | 5 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1871-L | C-terminus | None | 4 | SCN8A - Epileptic encephalopathy, infantile |
| 1872-K | C-terminus | Arrhythmia (1) | 4 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
| 1876-E | C-terminus | None | 4 | SCN4A - Paramyotonia congenita SCN8A - Epilepsy |
| 1878-K | 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 |
| 1879-F | C-terminus | None | 3 | SCN4A - Myotonia |
| 1883-N | C-terminus | None | 4 | SCN8A - Benign familial infantile epilepsy |
| 1891-P | C-terminus | None | 4 | SCN1A - Autism spectrum disorder |
| 1895-T | C-terminus | Prob. Benign (0) | 4 | CACNA1C - Long QT syndrome SCN1A - Myoclonic epilepsy of infancy |
| 1898-R | C-terminus | Arrhythmia (1) | 4 | SCN2A - Autism ? |
| 1901-E | C-terminus | Arrhythmia (3) | 5 | SCN3A - Autism spectrum disorder |
| 1908-I | C-terminus | Prob. Benign (0) | 8 | SCN1A - Myoclonic epilepsy of infancy |
| 1909-Q | C-terminus | Arrhythmia (4) | 8 | SCN1A - Partial epilepsy with febrile seizures plus |
| 1913-R | C-terminus | Arrhythmia (1) | 8 | CACNA1A - Epilepsy, idiopathic SCN10A - Brugada syndrome SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus |
| 1914-R | C-terminus | Prob. Benign (0) | 8 | SCN1A - Myoclonic epilepsy of infancy SCN2A - Epilepsy, idiopathic generalised ? |
| 1919-R | C-terminus | Prob. Benign (2) | 6 | SCN10A - Brugada syndrome |
| 1923-H | C-terminus | Prob. Benign (0) | 3 | SCN1A - Generalised epilepsy with febrile seizures plus 2 |
| 1925-S | C-terminus | None | 2 | CACNA1H - Autism spectrum disorder |
| 1929-R | C-terminus | Prob. Benign (0) | 2 | CACNA1S - Hypokalaemic periodic paralysis with malignant hyp |
| 1939-E | C-terminus | None | 1 | SCN10A - Atrial fibrillation & slow ventricular rates |
| 1943-E | C-terminus | None | 1 | SCN1A - Autism ? |
| 1945-E | C-terminus | None | 1 | SCN1A - Myoclonic epilepsy of infancy |
| 1969-S | C-terminus | Prob. Benign (0) | 1 | SCN1A - Acute encephalopathy |
| 1979-S | C-terminus | None | 1 | SCN1A - Epilepsy-aphasia with febrile seizures plus |
| 1994-D | C-terminus | None | 1 | CACNA1A - Episodic ataxia 2 ? |
| 2008-P | C-terminus | Prob. Benign (0) | 3 | CACNA1C - Brugada syndrome (shorter-than-normal QT interval) |