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.



Amino acid residues of CACNA1C with 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.

ResidueDomainKnown Variant Status ConsensusMapped Paralogues and Variant Disease
4-E N-terminus None3 SCN1A - Dravet syndrome, Dravet syndrome C ?
SCN5A - Brugada syndrome
6-T N-terminus None5 SCN5A - Brugada syndrome
23-P N-terminus None3 SCN5A - Long QT syndrome
24-R N-terminus Prob. Benign (0)3 SCN10A - Brugada syndrome
27-H N-terminus Prob. Benign (0)3 SCN1A - Dravet syndrome
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 None2 SCN5A - Brugada syndrome
39-A N-terminus Arrhythmia (4)1 SCN5A - Arrhythmia, lidocaine-induced, Brugada syndrome
41-E N-terminus None2 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
50-L N-terminus None2 SCN8A - Intellectual disability and epilepsy
54-A N-terminus None3 SCN1A - Dravet syndrome
57-D N-terminus Prob. Benign (0)3 SCN1A - Dravet syndrome
59-A N-terminus None2 SCN1A - Dravet syndrome
60-R N-terminus None3 SCN9A - Febrile seizures
63-K N-terminus None2 SCN5A - Brugada syndrome
64-L N-terminus None2 SCN1A - Dravet syndrome B ?
65-M N-terminus None2 SCN4A - Myotonic dystrophy, type 2
70-N N-terminus None3 SCN1A - Myoclonic epilepsy of infancy
74-S N-terminus None3 SCN1A - Myoclonic epilepsy of infancy
75-T N-terminus None3 SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy
77-S N-terminus Prob. Benign (0)3 SCN1A - Dravet syndrome
SCN5A - Brugada syndrome
86-Y N-terminus Prob. Benign (0)5 SCN1A - Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
87-G N-terminus None5 SCN1A - Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
88-K N-terminus None4 SCN10A - Atrial fibrillation
SCN5A - Brugada syndrome
89-P N-terminus None4 SCN1A - Dravet syndrome
94-S N-terminus None6 SCN1A - Dravet syndrome C ?
95-T N-terminus Prob. Benign (0)6 SCN5A - Long QT syndrome and generalized epilepsy
97-A N-terminus None7 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 None8 SCN1A - Dravet syndrome
101-P N-terminus None8 SCN1A - Myoclonic epilepsy of infancy
102-R N-terminus None8 CACNA1F - Night blindness, congenital stationary 2
SCN1A - Dravet syndrome
SCN5A - Brugada syndrome
103-A N-terminus None9 SCN5A - Long QT syndrome
104-L N-terminus None9 SCN1A - Dravet syndrome, Epilepsy ?
106-C N-terminus None9 CACNA1F - Night blindness, congenital stationary, incomplete
SCN5A - Long QT syndrome
108-T N-terminus None9 SCN1A - Myoclonic epilepsy of infancy
SCN5A - Long QT syndrome
109-L N-terminus None9 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 None9 SCN5A - Brugada syndrome
118-I N-terminus None9 SCN5A - Long QT syndrome
SCN9A - Dravet syndrome
119-S N-terminus None9 SCN5A - Brugada syndrome
120-I N-terminus None9 CACNA1F - Congenital stationary night blindness
SCN1A - Dravet syndrome
121-V N-terminus None9 SCN4A - Myotonia
123-W N-terminus None9 SCN1A - Dravet syndrome, Dravet syndrome B ?, Epilepsy with febrile seizures plus
127-E TM domain 1 None9 CACNA1A - Epilepsy of infancy with migrating focal seizures
CACNA1F - High myopia
SCN2A - Epileptic encephalopathy, early onset
129-I TM domain 1 None9 SCN5A - Brugada syndrome
130-I TM domain 1 None9 SCN5A - Arrhythmogenic right ventricular dysplasia
131-L TM domain 1 None9 SCN10A - Brugada syndrome
SCN2A - Epileptic encephalopathy, early onset
SCN5A - Atrial fibrillation
132-L TM domain 1 None9 CACNA1F - Congenital stationary night blindness
134-I TM domain 1 None9 SCN1A - Dravet syndrome
SCN4A - Myotonia
SCN5A - Ventricular arrhythmia, exercise-induced
SCN9A - Erythermalgia, primary
139-V TM domain 1 None9 SCN5A - Brugada syndrome
141-L TM domain 1 None9 SCN1A - Dravet syndrome, Febrile seizures
142-A TM domain 1 None9 SCN5A - Sudden unexplained death
154-A TM domain 1 None5 SCN9A - Febrile seizures
163-E TM domain 1 None7 SCN5A - Brugada syndrome
164-Y TM domain 1 None8 SCN10A - Atrial fibrillation, early-onset
167-L TM domain 1 None7 SCN1A - Myoclonic epilepsy of infancy
168-I TM domain 1 None7 SCN1A - Dravet syndrome
173-E TM domain 1 None9 CACNA1A - Episodic ataxia 2
SCN2A - Epileptic encephalopathy, early onset
176-L TM domain 1 None9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
SCN2A - Acute encephalopathy with biphasic seizures & late
177-K TM domain 1 None9 SCN5A - Brugada syndrome
178-V TM domain 1 None9 SCN5A - Long QT syndrome
180-A TM domain 1 None9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
182-G TM domain 1 None9 CACNA1F - Night blindness, congenital stationary, incomplete
SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
183-L TM domain 1 None9 SCN1A - Intractable epilepsy
184-L TM domain 1 None9 SCN1A - Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
185-F TM domain 1 None9 CACNA1H - Epilepsy, childhood absence
187-P TM domain 1 Prob. Benign (0)9 SCN5A - Brugada syndrome, Long QT syndrome
188-N TM domain 1 None9 CACNA1A - Episodic ataxia 2
189-A TM domain 1 None9 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 None9 SCN1A - Generalized epilepsy with febrile seizures plus
195-W TM domain 1 None9 SCN10A - Brugada syndrome
SCN1A - Myoclonic epilepsy of infancy
196-N TM domain 1 None9 SCN1A - Dravet syndrome
198-L TM domain 1 None9 SCN1A - Generalized epilepsy with febrile seizures plus
199-D TM domain 1 None9 SCN1A - Dravet syndrome, Dravet syndrome C ?, Myoclonic epilepsy of infancy
204-V TM domain 1 None9 SCN1A - Myoclonic epilepsy of infancy
205-V TM domain 1 None9 SCN4A - Myopathy, congenital
206-G TM domain 1 None9 SCN10A - Brugada syndrome
SCN5A - Brugada syndrome
211-I TM domain 1 None6 SCN8A - Epileptic encephalopathy
212-L TM domain 1 None7 SCN10A - Brugada syndrome
SCN2A - Infantile seizures, benign
214-Q TM domain 1 None6 SCN5A - Atrial standstill ?, Brugada syndrome
215-A TM domain 1 None5 SCN2A - West syndrome with hypotonia
SCN8A - Infantile spasms
232-D TM domain 1 Prob. Benign (0)8 SCN2A - Ohtahara syndrome
SCN8A - Epileptic encephalopathy
233-V TM domain 1 None9 SCN1A - Dravet syndrome
SCN2A - Epileptic encephalopathy, early onset
SCN8A - Epileptic encephalopathy, infantile
234-K TM domain 1 None9 CACNA1A - Episodic ataxia 2, Hemiplegic migraine and episodic ataxia 2
SCN5A - Cardiomyopathy, dilated ?
SCN9A - Erythermalgia, primary
237-R TM domain 1 None9 CACNA1A - Hemiplegic migraine
SCN11A - Episodic pain syndrome
SCN5A - Cardiomyopathy, dilated
238-A TM domain 1 None9 SCN1A - Myoclonic epilepsy of infancy
SCN2A - Epilepsy of infancy with migrating focal seizures
SCN5A - Nodal rhythm
239-F TM domain 1 None9 SCN1A - Generalised epilepsy with febrile seizures plus 2
SCN9A - Erythermalgia, primary
240-R TM domain 1 None9 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 None9 SCN1A - Malignant migrating partial seizures in infancy
SCN5A - Brugada syndrome, Sudden unexpected death in epilepsy
243-R TM domain 1 None9 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 None9 SCN1A - Dravet syndrome
SCN5A - Brugada syndrome, Ventricular fibrillation, idiopathic
246-R TM domain 1 None9 CACNA1S - Malignant hyperthermia ?
SCN1A - Dravet syndrome
247-L TM domain 1 None9 CACNA1F - Congenital stationary night blindness
SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
248-V TM domain 1 None9 SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome, Cardiac conduction disease
250-G TM domain 1 None9 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 None9 SCN1A - Dravet syndrome
254-L TM domain 1 None9 SCN1A - Dravet syndrome C ?
256-V TM domain 1 None9 SCN2A - Ohtahara syndrome
257-V TM domain 1 None9 SCN5A - Long QT syndrome
SCN9A - Erythermalgia, primary
258-L TM domain 1 None9 SCN5A - Long QT syndrome
260-S TM domain 1 None9 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 None9 SCN5A - Long QT syndrome
264-A TM domain 1 None9 SCN10A - Brugada syndrome
SCN1A - Dravet syndrome
SCN9A - Erythermalgia, primary
265-M TM domain 1 None9 SCN5A - Long QT syndrome
267-P TM domain 1 None9 CACNA1A - Hemiplegic migraine
268-L TM domain 1 None9 SCN4A - Isolated eyelid closure myotonia
SCN9A - Erythermalgia, primary
270-H TM domain 1 None9 SCN1A - Dravet syndrome
272-A TM domain 1 None9 SCN2A - Neonatal-infantile seizures
273-L TM domain 1 None9 SCN1A - Intractable epilepsy, Myoclonic epilepsy of infancy
275-V TM domain 1 None9 SCN1A - Febrile seizures plus
277-F TM domain 1 None9 SCN8A - Epileptic encephalopathy
278-V TM domain 1 None9 SCN1A - Dravet syndrome
280-I TM domain 1 None9 SCN1A - Dravet syndrome
281-I TM domain 1 None9 SCN2A - Neonatal-infantile seizures
283-A TM domain 1 None9 SCN2A - Epileptic encephalopathy, early onset, Neonatal epilepsy, late-onset ataxia, myoclonus &
284-I TM domain 1 None9 SCN1A - Hemiplegic migraine and epilepsy
SCN4A - Myotonia
285-I TM domain 1 None9 SCN5A - Long QT syndrome
286-G TM domain 1 None9 CACNA1F - Night blindness, congenital stationary 2
SCN1A - Myoclonic epilepsy of infancy
288-E TM domain 1 None9 SCN5A - Brugada syndrome
289-L TM domain 1 Prob. Benign (0)9 SCN9A - Febrile seizures
290-F TM domain 1 None9 CACNA1A - Episodic ataxia 2
292-G TM domain 1 None9 CACNA1F - Night blindness, congenital stationary, incomplete
293-K TM domain 1 None9 SCN5A - Long QT syndrome & atrial fibrillation
294-M TM domain 1 None9 SCN5A - Brugada syndrome
295-H TM domain 1 None9 CACNA1A - Episodic ataxia 2
296-K TM domain 1 None9 SCN5A - Brugada syndrome
297-T TM domain 1 None9 SCN1A - Dravet syndrome
298-C TM domain 1 None9 CACNA1A - Episodic ataxia 2
SCN1A - Dravet syndrome
SCN5A - Brugada syndrome
299-Y TM domain 1 None7 SCN5A - Brugada syndrome
300-N TM domain 1 Arrhythmia (1)7 SCN5A - Brugada syndrome
302-E TM domain 1 None6 SCN1A - Myoclonic epilepsy of infancy
303-G TM domain 1 None5 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
309-A TM domain 1 None3 SCN3A - Epilepsy
310-E TM domain 1 Prob. Benign (0)4 SCN5A - Long QT syndrome
311-D TM domain 1 None3 SCN5A - Brugada syndrome
315-P TM domain 1 None4 SCN5A - Brugada syndrome
316-C TM domain 1 None5 CACNA1A - Paroxysmal tonic upward gaze
SCN1A - Dravet syndrome
320-T TM domain 1 Prob. Benign (0)4 SCN1A - Dravet syndrome
322-H TM domain 1 None3 SCN1A - Dravet syndrome, Dravet syndrome C ?
323-G TM domain 1 None4 SCN1A - Myoclonic epilepsy of infancy
324-R TM domain 1 None2 CACNA1A - Episodic ataxia 2
326-C TM domain 1 None5 SCN1A - Dravet syndrome, Dravet syndrome C, Dravet syndrome C ?, Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
328-N TM domain 1 None5 SCN5A - Brugada syndrome
330-T TM domain 1 Prob. Benign (0)7 SCN1A - Dravet syndrome
331-V TM domain 1 None8 SCN1A - Dravet syndrome
SCN5A - Long QT syndrome
332-C TM domain 1 None9 CACNA1A - Episodic ataxia 2
SCN1A - Dravet syndrome
334-P TM domain 1 None8 SCN3A - Epilepsy, cryptogenic pediatric partial
336-W TM domain 1 None8 SCN1A - Dravet syndrome
337-D TM domain 1 None9 SCN1A - Myoclonic epilepsy of infancy
SCN3A - Epilepsy, focal
338-G TM domain 1 None9 CACNA1A - Spinocerebellar ataxia 6
SCN1A - Dravet syndrome
339-P TM domain 1 None9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
SCN4A - Myopathy, congenital
340-K TM domain 1 None9 SCN1A - Dravet syndrome, Dravet syndrome C ?
SCN5A - Sick sinus syndrome, autosomal recessive
342-G TM domain 1 None9 CACNA1A - Episodic ataxia, global developmental delay, and m
CACNA1F - High myopia
SCN5A - Brugada syndrome
343-I TM domain 1 None9 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 None9 CACNA1A - Cerebellar ataxia
347-D TM domain 1 None9 CACNA1A - Spinocerebellar ataxia 6
SCN1A - Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
355-T TM domain 1 None9 SCN1A - Dravet syndrome
358-Q TM domain 1 None9 SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus
SCN5A - Brugada syndrome, Sudden unexplained nocturnal death syndrome
359-C TM domain 1 None9 SCN1A - Dravet syndrome
360-I TM domain 1 None9 SCN1A - Dravet syndrome
SCN5A - Brugada syndrome
361-T TM domain 1 None9 SCN5A - Sudden adult death syndrome
363-E TM domain 1 None9 SCN1A - Dravet syndrome, Epilepsy ?
364-G TM domain 1 None9 SCN1A - Myoclonic epilepsy of infancy
365-W TM domain 1 None9 SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
366-T TM domain 1 None9 SCN1A - Dravet syndrome
367-D TM domain 1 None8 SCN5A - Brugada syndrome, Sick sinus syndrome
369-L TM domain 1 None8 SCN1A - Generalized epilepsy with febrile seizures plus
372-V TM domain 1 Prob. Benign (0)9 SCN1A - Dravet syndrome
374-D TM domain 1 None8 SCN1A - Myoclonic epilepsy of infancy
376-V TM domain 1 Prob. Benign (0)8 SCN1A - Cryptogenic generalised epilepsy
377-G TM domain 1 None8 SCN1A - Dravet syndrome
SCN5A - Brugada syndrome
382-W TM domain 1 None9 SCN1A - Dravet syndrome, Dravet syndrome C ?
385-F TM domain 1 None9 SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy
386-V TM domain 1 None9 SCN11A - Painful peripheral neuropathy
388-L TM domain 1 None9 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 None9 SCN1A - Epilepsy, idiopathic
391-I TM domain 1 Prob. Benign (0)9 SCN1A - Myoclonic epilepsy of infancy
392-G TM domain 1 None9 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 None9 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 None9 SCN4A - Myotonia
SCN5A - Brugada syndrome, Long QT syndrome
SCN9A - Erythermalgia, primary
401-L TM domain 1 None9 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 None9 SCN4A - Myotonia
SCN5A - Long QT syndrome
SCN9A - Erythermalgia, carbamazepine-responsive
404-L TM domain 1 None9 SCN1A - Cryptogenic generalised epilepsy, Dravet syndrome, Epileptic encephalopathy, infantile
SCN8A - Epileptic encephalopathy
405-S TM domain 1 None9 SCN5A - Long QT syndrome
406-G Interdomain Linker I-II Arrhythmia (11)9 CACNA1D - Autism
408-F Interdomain Linker I-II None9 CACNA1A - Hemiplegic migraine
SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
410-K Interdomain Linker I-II None9 SCN2A - Epileptic encephalopathy, early onset, Neonatal-infantile seizures ?
SCN4A - Myotonia, non-dystrophic
414-K Interdomain Linker I-II None9 SCN1A - Dravet syndrome
420-D Interdomain Linker I-II None4 SCN5A - Atrial fibrillation
425-R Interdomain Linker I-II None4 SCN11A - Painful peripheral neuropathy
432-E Interdomain Linker I-II None3 CACNA1A - Episodic ataxia 2
SCN5A - Brugada syndrome
433-D Interdomain Linker I-II None3 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 None3 SCN5A - Cardiomyopathy, dilated
449-P Interdomain Linker I-II None2 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 None2 CACNA1H - Epilepsy, childhood absence
462-R Interdomain Linker I-II None2 SCN5A - Long QT syndrome
464-M Interdomain Linker I-II None3 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 None1 CACNA1H - Epilepsy, childhood absence
472-E Interdomain Linker I-II Prob. Benign (0)2 SCN2A - Autism spectrum disorder
SCN5A - Brugada syndrome
475-N Interdomain Linker I-II None3 SCN5A - Long QT syndrome
476-T Interdomain Linker I-II None3 SCN5A - Atrial fibrillation
477-E Interdomain Linker I-II Prob. Benign (0)3 SCN5A - Brugada syndrome
478-N Interdomain Linker I-II None3 SCN5A - Long QT syndrome
482-G Interdomain Linker I-II None3 SCN5A - Brugada syndrome
488-N Interdomain Linker I-II None3 SCN5A - Sudden unexplained death
489-C Interdomain Linker I-II None2 SCN9A - Dravet syndrome ?
491-A Interdomain Linker I-II None4 CACNA1A - Episodic ataxia 2
CACNA1H - Epilepsy, childhood absence
494-A Interdomain Linker I-II None3 SCN1A - Dravet syndrome
496-R Interdomain Linker I-II Prob. Benign (0)3 SCN5A - Long QT syndrome
498-S Interdomain Linker I-II None4 SCN5A - Long QT syndrome
499-K Interdomain Linker I-II None4 SCN5A - Long QT syndrome
504-R Interdomain Linker I-II Prob. Benign (0)6 CACNA1H - Epilepsy, childhood absence
508-R Interdomain Linker I-II Prob. Benign (0)5 SCN5A - Long QT syndrome
510-N Interdomain Linker I-II None6 SCN1A - Dravet syndrome
511-R Interdomain Linker I-II None6 SCN9A - Small fibre neuropathy
514-R Interdomain Linker I-II None8 CACNA1A - Epilepsy, idiopathic
CACNA1F - Night blindness, congenital stationary, incomplete, Retinitis pigmentosa
515-R Interdomain Linker I-II None8 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 ?
524-N Interdomain Linker I-II None8 SCN1A - Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
529-L TM domain 2 None9 SCN11A - Painful peripheral neuropathy
530-V TM domain 2 Prob. Benign (0)9 SCN10A - Brugada syndrome
SCN9A - Febrile seizures ?
534-V TM domain 2 None9 SCN4A - Myotonia & periodic paralysis
535-F TM domain 2 None9 SCN5A - Brugada syndrome
538-T TM domain 2 None9 CACNA1A - Episodic ataxia 2
SCN5A - Long QT syndrome
SCN8A - Epileptic encephalopathy
539-L TM domain 2 None9 SCN1A - Myoclonic epilepsy of infancy
541-I TM domain 2 None9 SCN1A - Dravet syndrome, Dravet syndrome C ?
542-A TM domain 2 None9 SCN5A - Brugada syndrome, Sudden unexplained nocturnal death syndrome
544-E TM domain 2 None9 SCN1A - Dravet syndrome
546-Y TM domain 2 None9 SCN1A - Generalized epilepsy with febrile seizures plus, Panayiotopoulos syndrome
549-P TM domain 2 None9 SCN1A - Dravet syndrome
553-T TM domain 2 None9 SCN5A - Brugada syndrome
557-D TM domain 2 None9 SCN5A - Long QT syndrome
559-A TM domain 2 None9 SCN5A - Brugada syndrome
562-A TM domain 2 None9 CACNA1H - Epilepsy, childhood absence
564-L TM domain 2 None9 SCN1A - Myoclonic epilepsy of infancy
565-A TM domain 2 Prob. Benign (0)9 SCN5A - Brugada syndrome
566-L TM domain 2 None9 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 None9 CACNA1A - Episodic ataxia 2
571-M TM domain 2 None9 SCN5A - Brugada syndrome
577-S TM domain 2 Prob. Benign (0)9 CACNA1A - Episodic ataxia
579-G TM domain 2 None9 CACNA1H - Epilepsy, childhood absence
SCN3A - Epilepsy, focal
SCN5A - Long QT syndrome
580-L TM domain 2 None9 SCN5A - Brugada syndrome
583-Y TM domain 2 None9 SCN1A - Dravet syndrome
584-F TM domain 2 None9 SCN5A - Heart block type 1
586-S TM domain 2 None9 SCN5A - Long QT syndrome
587-L TM domain 2 None9 SCN2A - Neurodevelopmental disorder
590-R TM domain 2 Arrhythmia (1)9 CACNA1S - Exertional heat illness, Takotsubo (stress) cardiomyopathy
592-D TM domain 2 None9 SCN5A - Brugada syndrome
596-V TM domain 2 Prob. Benign (0)6 SCN5A - Brugada syndrome
598-G TM domain 2 None5 CACNA1F - Aland island eye disease & stationary night blindn
SCN1A - Dravet syndrome C ?
599-G TM domain 2 None6 SCN1A - Dravet syndrome
602-E TM domain 2 None5 SCN1A - Dravet syndrome
604-I TM domain 2 None5 SCN5A - Long QT syndrome
607-E TM domain 2 None6 CACNA1H - Idiopathic epilepsy, generalised
SCN5A - Long QT syndrome
609-K TM domain 2 None5 SCN1A - Myoclonic epilepsy of infancy
618-V TM domain 2 Prob. Benign (0)9 CACNA1A - Hemiplegic migraine, Hemiplegic migraine, cerebellar dysfunction & cogn
619-L TM domain 2 None9 SCN9A - Erythermalgia, primary
620-R TM domain 2 None9 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 None9 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 None9 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 None9 SCN5A - Long QT syndrome
629-K TM domain 2 Prob. Benign (0)9 SCN5A - Brugada syndrome
630-I TM domain 2 None9 CACNA1F - Night blindness, congenital stationary, incomplete
631-T TM domain 2 None9 SCN11A - Painful peripheral neuropathy
633-Y TM domain 2 None9 SCN1A - Dravet syndrome
634-W TM domain 2 None9 SCN5A - Brugada syndrome
636-S TM domain 2 None9 SCN1A - Dravet syndrome, Generalised epilepsy with febrile seizures plus 2
637-L TM domain 2 None9 SCN1A - Myoclonic epilepsy of infancy
638-S TM domain 2 None9 CACNA1H - Autism spectrum disorder ?
640-L TM domain 2 None9 SCN4A - Hyperkalaemic periodic paralysis
SCN5A - Long QT syndrome
643-S TM domain 2 None9 SCN2A - Epileptic encephalopathy, early infantile with mov
644-L TM domain 2 None9 SCN4A - Myotonia & paralytic episodes, Myotonia, sodium channel, Paramyotonia congenita
SCN9A - Erythermalgia, primary
645-L TM domain 2 None9 CACNA1A - Hemiplegic migraine and chronic headache
SCN1A - Dravet syndrome
SCN5A - Long QT syndrome
646-N TM domain 2 None9 SCN2A - Ohtahara syndrome
SCN5A - Long QT syndrome
647-S TM domain 2 Prob. Benign (0)9 SCN5A - Brugada syndrome
649-R TM domain 2 None9 SCN11A - Painful peripheral neuropathy
SCN2A - Epileptic encephalopathy, early infantile
651-I TM domain 2 None9 SCN1A - Dravet syndrome C ?
SCN5A - Brugada syndrome
SCN8A - Lennox-Gastaut syndrome
652-A TM domain 2 None9 SCN5A - Long QT syndrome
SCN9A - Pain, dysautonomia & acromesomelia
654-L TM domain 2 None9 CACNA1A - Paroxysmal head tremor, adult-onset
SCN4A - paramyotonia congenita
SCN9A - Erythermalgia, primary
655-L TM domain 2 None9 SCN4A - Hyperkalaemic periodic paralysis
SCN5A - Long QT syndrome
657-L TM domain 2 None9 SCN1A - Dravet syndrome, Myoclonic epilepsy, borderline
658-L TM domain 2 None9 CACNA1A - Episodic ataxia
SCN1A - Dravet syndrome
SCN5A - Ventricular fibrillation, idiopathic
659-F TM domain 2 None9 SCN9A - Erythermalgia, primary
660-L TM domain 2 None9 SCN1A - Generalized epilepsy with febrile seizures plus
SCN5A - Long QT syndrome
661-F TM domain 2 None9 SCN5A - Sudden unexplained death
662-I TM domain 2 None9 SCN2A - Neonatal-infantile seizures
663-I TM domain 2 None9 SCN1A - Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
666-S TM domain 2 None9 SCN4A - Myotonia
SCN8A - Epileptic encephalopathy
668-L TM domain 2 None9 SCN1A - Focal epilepsy
SCN4A - Myotonia, non-dystrophic
SCN9A - Erythermalgia, primary
669-G TM domain 2 None9 CACNA1F - Night blindness, congenital stationary, incomplete
670-M TM domain 2 None9 SCN5A - Phenotype modifier
671-Q TM domain 2 None9 SCN1A - Dravet syndrome
SCN9A - Erythermalgia, primary
675-G TM domain 2 None9 CACNA1A - Episodic ataxia 2
SCN2A - Epileptic encephalopathy
678-N TM domain 2 None7 SCN10A - Atrial fibrillation & slow ventricular rates
679-F TM domain 2 Prob. Benign (0)6 SCN5A - Brugada syndrome
682-M TM domain 2 None4 CACNA1I - Schizophrenia
SCN10A - Atrial fibrillation
SCN1A - Dravet syndrome
686-R TM domain 2 None8 SCN1A - Dravet syndrome, Epilepsy ?, Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
SCN9A - Congenital indifference to pain
687-S TM domain 2 None8 SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy
688-T TM domain 2 None9 SCN1A - Dravet syndrome C ?
689-F TM domain 2 None9 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 None9 SCN1A - Dravet syndrome
692-F TM domain 2 None9 SCN2A - Epileptic encephalopathy
694-Q TM domain 2 None9 CACNA1H - Autism spectrum disorder ?
SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
695-S TM domain 2 None9 SCN1A - Myoclonic epilepsy of infancy
697-L TM domain 2 None9 SCN1A - Myoclonic epilepsy of infancy
698-T TM domain 2 None9 CACNA1S - Malignant hyperthermia
SCN1A - Dravet syndrome
SCN5A - Brugada syndrome
699-V TM domain 2 None9 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 None9 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 None9 CACNA1F - Night blindness, congenital stationary 2
704-T TM domain 2 None9 CACNA1A - Hemiplegic migraine and episodic ataxia 2
SCN1A - Dravet syndrome
SCN4A - Myotonia
SCN5A - Brugada syndrome
705-G TM domain 2 None9 SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
706-E TM domain 2 None9 CACNA1A - Head tremor, Spinocerebellar ataxia 6
708-W TM domain 2 None9 SCN1A - Dravet syndrome, Dravet syndrome B, Myoclonic epilepsy of infancy
710-S TM domain 2 None9 SCN1A - Dravet syndrome C ?
SCN5A - Brugada syndrome
712-M TM domain 2 None9 SCN1A - Dravet syndrome C ?, Febrile seizures plus
713-Y TM domain 2 None9 SCN1A - Myoclonic epilepsy of infancy
715-G TM domain 2 None9 CACNA1H - Idiopathic epilepsy, generalised
SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
716-I TM domain 2 None8 SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus ?, Myoclonic epilepsy of infancy
720-G TM domain 2 None5 SCN5A - Brugada syndrome
726-G TM domain 2 None7 SCN5A - Long QT syndrome
728-L TM domain 2 None9 SCN9A - Congenital indifference to pain
729-V TM domain 2 None9 SCN1A - Dravet syndrome
SCN5A - Brugada syndrome
731-I TM domain 2 None9 SCN5A - Brugada syndrome
732-Y TM domain 2 None9 SCN4A - Hyperkalaemic periodic paralysis
734-I TM domain 2 None9 SCN1A - Cryptogenic generalised epilepsy, Dravet syndrome
736-L TM domain 2 None9 SCN8A - Epileptic encephalopathy
737-F TM domain 2 None9 SCN1A - Generalized epilepsy with febrile seizures plus
738-I TM domain 2 None9 SCN1A - Dravet syndrome
740-G TM domain 2 None9 SCN1A - Dravet syndrome, Dravet syndrome B ?, Myoclonic epilepsy of infancy
741-N TM domain 2 None9 CACNA1F - Night blindness, congenital stationary 2
SCN5A - Brugada syndrome
742-Y TM domain 2 None9 SCN5A - Brugada syndrome
743-I TM domain 2 None9 SCN1A - Dravet syndrome
744-L TM domain 2 None9 SCN1A - Myoclonic epilepsy of infancy
746-N TM domain 2 None9 SCN1A - Myoclonic epilepsy of infancy
SCN2A - Epileptic encephalopathy
747-V TM domain 2 None9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
748-F TM domain 2 None9 CACNA1E - Epileptic encephalopathy with infantile spasms
CACNA1F - Night blindness, congenital stationary, incomplete
SCN1A - Myoclonic epilepsy of infancy
749-L TM domain 2 None9 SCN5A - Brugada syndrome
750-A TM domain 2 None9 CACNA1D - Autism
SCN11A - Episodic pain syndrome
SCN4A - Episodic laryngospasm, severe neonatal
751-I TM domain 2 None9 CACNA1A - Episodic seizures, ataxia, and migraine with motor
CACNA1D - Primary aldosteronism
CACNA1F - Retinal disorder, X-linked
SCN1A - Dravet syndrome
752-A TM domain 2 None9 CACNA1A - Lennox-Gastaut syndrome
753-V TM domain 2 None9 CACNA1A - Hemiplegic migraine and episodic ataxia 2
SCN11A - Congenital indifference to pain
754-D Interdomain Linker II-III None9 CACNA1A - Hemiplegic migraine, progressive cerebellar ataxia
SCN1A - Dravet syndrome B ?
755-N Interdomain Linker II-III None9 SCN4A - Paramyotonia congenita
756-L Interdomain Linker II-III None9 SCN1A - Dravet syndrome
757-A Interdomain Linker II-III None8 SCN2A - Epileptic encephalopathy, early infantile
760-E Interdomain Linker II-III None5 SCN1A - Dravet syndrome
761-S Interdomain Linker II-III None5 SCN8A - Intellectual disability and epilepsy
769-E Interdomain Linker II-III None4 SCN1A - Epilepsy ?
771-E Interdomain Linker II-III Prob. Benign (1)4 SCN2A - Epileptic encephalopathy, early infantile, Ohtahara syndrome
773-K Interdomain Linker II-III None4 SCN2A - Neonatal-infantile seizures
774-E Interdomain Linker II-III None4 SCN1A - Myoclonic epilepsy of infancy
775-R Interdomain Linker II-III None4 CACNA1S - Exertional heat illness
SCN2A - Neonatal-infantile seizures
776-K Interdomain Linker II-III None4 SCN5A - Long QT syndrome
778-L Interdomain Linker II-III None3 SCN5A - Brugada syndrome, Long QT syndrome
782-A Interdomain Linker II-III None2 SCN11A - Painful peripheral neuropathy
790-L Interdomain Linker II-III None3 SCN1A - Autism ?
SCN5A - Long QT syndrome
791-V Interdomain Linker II-III None3 SCN5A - Sudden adult death syndrome
798-E Interdomain Linker II-III None2 SCN5A - Brugada syndrome, Sudden infant death syndrome
800-K Interdomain Linker II-III Prob. Benign (0)2 SCN5A - Cardiac conduction disease
808-S Interdomain Linker II-III None1 SCN4A - hyperkalemic periodic paralysis
819-T Interdomain Linker II-III None1 CACNA1G - Myoclonic epilepsy, juvenile
823-M Interdomain Linker II-III None2 SCN4A - paramyotonia congenita
840-P Interdomain Linker II-III None4 CACNA1F - MRX
845-E Interdomain Linker II-III None2 SCN5A - Brugada syndrome
848-E Interdomain Linker II-III None2 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
852-E Interdomain Linker II-III None0 SCN5A - Negative shift activation
857-P Interdomain Linker II-III Arrhythmia (2)1 SCN5A - Brugada syndrome and epilepsy, Long QT syndrome
860-R Interdomain Linker II-III Arrhythmia (1)1 SCN10A - Sudden unexplained death
862-L Interdomain Linker II-III None3 SCN5A - Long QT syndrome
864-E Interdomain Linker II-III None3 SCN5A - Brugada syndrome, Long QT syndrome
870-K Interdomain Linker II-III None2 CACNA1H - Epilepsy, childhood absence
SCN5A - Long QT syndrome
874-M Interdomain Linker II-III None3 SCN5A - Long QT syndrome
877-A Interdomain Linker II-III None4 CACNA1F - Cone-rod dystrophy
878-S Interdomain Linker II-III None4 SCN5A - Long QT syndrome
879-A Interdomain Linker II-III None4 SCN5A - Atrioventricular conduction block
883-F Interdomain Linker II-III None4 SCN9A - Dravet syndrome ?
886-N Interdomain Linker II-III None6 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 None9 CACNA1F - Night blindness, congenital stationary, incomplete
SCN1A - Myoclonic epilepsy of infancy
SCN5A - Long QT syndrome & atrial fibrillation
890-R Interdomain Linker II-III None9 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 None9 SCN5A - Long QT syndrome
895-R Interdomain Linker II-III None9 SCN1A - Intractable epilepsy, Myoclonic epilepsy of infancy
896-I Interdomain Linker II-III None9 SCN1A - Dravet syndrome
901-I TM domain 3 Prob. Benign (0)9 CACNA1A - Hemiplegic migraine
SCN5A - Sudden cardiac death
903-T TM domain 3 None9 SCN1A - Dravet syndrome, Dravet syndrome C ?
SCN2A - Neonatal-infantile seizures
SCN5A - Brugada syndrome, Cardiac conduction disease
912-L TM domain 3 None9 SCN1A - Generalized epilepsy with febrile seizures plus ?
913-S TM domain 3 None9 SCN1A - Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
914-S TM domain 3 None9 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 None9 SCN5A - Long QT syndrome
918-A TM domain 3 None9 SCN1A - Dravet syndrome
920-E TM domain 3 None9 SCN1A - Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
921-D TM domain 3 None9 SCN1A - Dravet syndrome
923-V TM domain 3 None7 SCN5A - Brugada syndrome
925-H TM domain 3 None7 SCN5A - Long QT syndrome
926-T TM domain 3 None7 SCN1A - Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome, Ventricular fibrillation, idiopathic ?
930-N TM domain 3 None8 SCN1A - Generalized epilepsy with febrile seizures plus
SCN5A - Brugada syndrome, Brugada syndrome ?
931-H TM domain 3 None8 SCN1A - Generalized epilepsy with febrile seizures plus
933-L TM domain 3 None9 SCN5A - Brugada syndrome
934-F TM domain 3 None9 SCN5A - Brugada syndrome
935-Y TM domain 3 None9 SCN1A - Intractable epilepsy
SCN5A - Long QT syndrome
936-F TM domain 3 None9 SCN1A - Dravet syndrome
937-D TM domain 3 None9 SCN4A - Myopathy, congenital
SCN5A - Brugada syndrome
940-F TM domain 3 None9 SCN1A - Dravet syndrome
941-T TM domain 3 None9 SCN1A - Dravet syndrome
943-I TM domain 3 None9 SCN5A - Brugada syndrome
944-F TM domain 3 None9 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 None9 SCN1A - Dravet syndrome C ?
SCN5A - Brugada syndrome
951-K TM domain 3 None9 SCN1A - Generalized epilepsy with febrile seizures plus
SCN2A - Epileptic encephalopathy, early infantile
954-A TM domain 3 None9 SCN1A - Dravet syndrome
SCN9A - Congenital indifference to pain
955-Y TM domain 3 None9 SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus
956-G TM domain 3 None9 CACNA1E - Autism
CACNA1F - Night blindness, congenital stationary 2
SCN1A - Dravet syndrome, Epileptic encephalopathy
SCN5A - Brugada syndrome
957-A TM domain 3 None8 CACNA1F - Night blindness, congenital stationary, incomplete
967-N TM domain 3 None9 CACNA1F - Congenital stationary night blindness
SCN5A - Brugada syndrome
969-F TM domain 3 None9 SCN1A - Dravet syndrome
SCN5A - Brugada syndrome
970-N TM domain 3 None9 CACNA1F - Congenital stationary night blindness
972-L TM domain 3 None9 SCN1A - Dravet syndrome
973-D TM domain 3 None9 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 None9 CACNA1S - Hypokalaemic periodic paralysis
SCN2A - Schizophrenia
SCN5A - Cardiomyopathy, dilated
979-V TM domain 3 None9 SCN5A - Brugada syndrome ?
981-L TM domain 3 None9 SCN5A - Long QT syndrome
983-S TM domain 3 None9 SCN5A - Sudden unexplained death
986-I TM domain 3 Prob. Benign (0)7 SCN9A - Dravet syndrome ?
987-Q TM domain 3 None7 CACNA1A - Hemiplegic migraine
988-S TM domain 3 None8 SCN5A - Brugada syndrome
990-A TM domain 3 None8 CACNA1A - Cerebellar ataxia
SCN1A - Febrile seizures
SCN5A - Long QT syndrome
991-I TM domain 3 None9 SCN1A - Generalized epilepsy with febrile seizures plus
993-V TM domain 3 None9 SCN5A - Nodal rhythm
995-K TM domain 3 None9 SCN1A - Dravet syndrome
SCN4A - Normokalaemic periodic paralysis with involuntary
998-R TM domain 3 None9 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 None9 SCN5A - Long QT syndrome
1000-L TM domain 3 None9 SCN1A - Myoclonic epilepsy of infancy
1001-R TM domain 3 None9 CACNA1A - Ataxia, mental retardation and dyskinesia
CACNA1S - Hypokalaemic periodic paralysis
SCN4A - Hypokalaemic periodic paralysis
1002-V TM domain 3 None9 CACNA1A - Paroxysmal tonic upward gaze
SCN1A - Dravet syndrome B ?
1003-L TM domain 3 None9 SCN5A - Brugada syndrome, lidocaine-induced
1004-R TM domain 3 None9 SCN1A - Dravet syndrome
SCN2A - Neonatal-infantile seizures
SCN4A - Hyperkalaemic periodic paralysis, Hypokalaemic periodic paralysis
SCN5A - Atrial and ventricular arrhythmia
1005-P TM domain 3 None9 CACNA1A - Hypotonia and developmental delay
SCN1A - Dravet syndrome
1006-L TM domain 3 None9 SCN5A - Brugada syndrome
1007-R TM domain 3 None9 SCN1A - Intractable epilepsy
1008-A TM domain 3 None9 SCN1A - Dravet syndrome, Epilepsy-aphasia, Myoclonic epilepsy of infancy
1009-I TM domain 3 None9 SCN11A - Painful peripheral neuropathy
1010-N TM domain 3 None9 SCN1A - Dravet syndrome
1011-R TM domain 3 None9 CACNA1A - Episodic ataxia 2
SCN2A - Neonatal-infantile seizures
SCN5A - Sudden unexplained death
1013-K TM domain 3 None9 SCN2A - Seizures, benign infantile
1014-G TM domain 3 None9 SCN5A - Brugada syndrome
1015-L TM domain 3 None9 SCN1A - Generalized epilepsy with febrile seizures plus
SCN2A - Ohtahara syndrome
1016-K TM domain 3 None9 SCN10A - Brugada syndrome
1017-H TM domain 3 None9 SCN1A - Myoclonic epilepsy of infancy
SCN8A - Epileptic encephalopathy, infantile
SCN9A - Paroxysmal extreme pain disorder
1018-V TM domain 3 None9 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 None9 CACNA1A - Nystagmus and late-onset ataxia
1020-Q TM domain 3 None9 SCN1A - Dravet syndrome
SCN5A - Long QT syndrome
1021-C TM domain 3 None9 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 None9 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 None9 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 None9 SCN2A - Ohtahara syndrome
SCN5A - Long QT syndrome
1029-I TM domain 3 None9 SCN4A - Hyperkalaemic periodic paralysis
SCN5A - Long QT syndrome
SCN8A - Epileptic encephalopathy, multiple congenital anom
1030-G TM domain 3 None9 SCN1A - Dravet syndrome
SCN2A - Ohtahara syndrome
1032-I TM domain 3 None9 SCN1A - Dravet syndrome C ?
1033-V TM domain 3 None9 SCN2A - Autism spectrum disorder
SCN5A - Long QT syndrome
SCN8A - Epileptic encephalopathy
1034-I TM domain 3 None9 SCN1A - Dravet syndrome
SCN2A - Epileptic encephalopathy
1035-V TM domain 3 None9 SCN11A - Cold-aggravated peripheral pain
SCN1A - Generalized epilepsy with febrile seizures plus
SCN5A - Brugada syndrome
SCN9A - Erythermalgia, primary
1036-T TM domain 3 None9 CACNA1A - Hemiplegic migraine, coma, cerebellar atrophy
SCN1A - Dravet syndrome
1037-T TM domain 3 None9 SCN1A - Myoclonic epilepsy of infancy
SCN5A - Cardiomyopathy, right ventricular
1039-L TM domain 3 None9 SCN1A - Intractable epilepsy
SCN5A - Brugada syndrome
1040-Q TM domain 3 None9 SCN1A - Dravet syndrome C, Dravet syndrome C ?, Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
1041-F TM domain 3 None9 SCN5A - Brugada syndrome
1044-A TM domain 3 None9 CACNA1F - Cone-rod dystrophy
SCN1A - Dravet syndrome
1045-C TM domain 3 None9 SCN1A - Dravet syndrome
SCN5A - Brugada syndrome
1046-I TM domain 3 Prob. Benign (0)9 SCN5A - Brugada syndrome
1047-G TM domain 3 None9 CACNA1F - Night blindness, congenital stationary, incomplete
SCN10A - Brugada syndrome
1048-V TM domain 3 None9 SCN1A - Generalized epilepsy with febrile seizures plus
SCN5A - Brugada syndrome
1049-Q TM domain 3 None9 SCN1A - Dravet syndrome
SCN4A - Myotonia, neonatal-onset
1052-K TM domain 3 None9 SCN10A - Peripheral neuropathy, painful
SCN1A - Dravet syndrome B ?
SCN5A - Long QT syndrome
1053-G TM domain 3 None9 SCN1A - Dravet syndrome
SCN5A - Brugada syndrome
1054-K TM domain 3 None9 SCN1A - Generalized epilepsy with febrile seizures plus
SCN5A - Brugada syndrome
1055-L TM domain 3 None9 CACNA1A - Episodic ataxia 2
SCN5A - Brugada syndrome
1058-C TM domain 3 None9 SCN1A - Intractable epilepsy
SCN5A - Brugada syndrome
1060-D TM domain 3 None9 SCN1A - Dravet syndrome C ?
SCN5A - Brugada syndrome
1062-S TM domain 3 None8 CACNA1H - Epilepsy, childhood absence
1064-Q TM domain 3 None6 SCN1A - Generalized epilepsy with febrile seizures plus
1066-E TM domain 3 None6 SCN3A - Epilepsy, focal
1070-K TM domain 3 None4 SCN1A - Myoclonic epilepsy of infancy
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 None5 SCN1A - Dravet syndrome
1077-K TM domain 3 None4 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 None4 CACNA1S - Schizophrenia
SCN1A - Myoclonic epilepsy of infancy
1081-V TM domain 3 None5 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 None7 CACNA1F - Night blindness, congenital stationary, incomplete
SCN1A - Dravet syndrome
1091-W TM domain 3 None9 CACNA1A - Epileptic encephalopathy, early onset with progres
1097-D TM domain 3 None9 SCN1A - Generalized epilepsy with febrile seizures plus ?, Myoclonic epilepsy of infancy
1098-F TM domain 3 None9 SCN1A - Myoclonic epilepsy of infancy
1099-D TM domain 3 Prob. Benign (0)9 SCN1A - Dravet syndrome
1100-N TM domain 3 None9 SCN1A - Dravet syndrome C ?
1101-V TM domain 3 None9 SCN1A - Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
1102-L TM domain 3 None9 SCN5A - Brugada syndrome
1104-A TM domain 3 None9 SCN5A - Brugada syndrome
1105-M TM domain 3 None9 SCN1A - Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
1106-M TM domain 3 None9 SCN1A - Dravet syndrome C ?
1108-L TM domain 3 None9 CACNA1F - Night blindness, congenital stationary, incomplete
SCN5A - Brugada syndrome
1109-F TM domain 3 None9 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 None9 CACNA1A - Hemiplegic migraine
SCN1A - Febrile seizures
1112-S TM domain 3 None9 SCN1A - Developmental disorder and intellectual disability, Intractable epilepsy
SCN5A - Brugada syndrome
1113-T TM domain 3 None9 SCN2A - Autism spectrum disorder
1114-F TM domain 3 None9 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 None9 SCN1A - Dravet syndrome, Dravet syndrome C ?, Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome, Brugada syndrome ?
1117-W TM domain 3 None9 SCN1A - Myoclonic epilepsy of infancy
1120-L TM domain 3 None9 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 None9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome, Long QT syndrome
1126-D TM domain 3 None9 SCN5A - Brugada-like ST elevation
1128-H TM domain 3 None9 SCN10A - Brugada syndrome
SCN5A - Brugada syndrome, Long QT syndrome
1129-T TM domain 3 Prob. Benign (0)9 SCN5A - Brugada syndrome, Early repolarization syndrome
1133-G TM domain 3 None9 SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus, Myoclonic epilepsy of infancy
1134-P TM domain 3 None9 SCN1A - Dravet syndrome, Dravet syndrome C ?, Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
1136-Y TM domain 3 None9 SCN1A - Dravet syndrome, Myoclonic epilepsy, borderline
1137-N TM domain 3 None9 CACNA1A - Episodic ataxia 2
SCN1A - Dravet syndrome C ?
SCN5A - Brugada syndrome
1139-R TM domain 3 Other Disease (1)9 SCN5A - Brugada syndrome
1144-I TM domain 3 None9 SCN1A - Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
1145-F TM domain 3 None9 CACNA1A - Episodic ataxia 2
SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
1146-F TM domain 3 None9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
1147-I TM domain 3 None9 SCN5A - Brugada syndrome
1148-I TM domain 3 None9 CACNA1A - Episodic ataxia 2
1153-I TM domain 3 Prob. Benign (0)9 SCN1A - Myoclonic epilepsy of infancy
SCN8A - Intellectual disability and epilepsy
1154-A TM domain 3 None9 SCN10A - Brugada syndrome
SCN1A - Dravet syndrome
SCN5A - Long QT syndrome
1155-F TM domain 3 None9 SCN1A - Myoclonic epilepsy, borderline
1158-M TM domain 3 None9 SCN1A - Myoclonic epilepsy of infancy
1159-N TM domain 3 None9 SCN1A - Dravet syndrome B ?
SCN5A - Brugada syndrome
1160-I TM domain 3 None9 CACNA1H - Aldosteronism, primary
SCN11A - Congenital indifference to pain
1161-F TM domain 3 None9 CACNA1A - Hemiplegic migraine
1163-G TM domain 3 None9 CACNA1A - Epileptic encephalopathy, early onset
SCN1A - Myoclonic-astatic epilepsy
SCN2A - Autism spectrum disorder
SCN4A - Myotonia, non-dystrophic
1164-F TM domain 3 None9 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 None9 SCN1A - Dravet syndrome
1168-T TM domain 3 None9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
SCN4A - Myotonia, non-dystrophic
SCN5A - Long QT syndrome
SCN8A - Epileptic encephalopathy, infantile
1169-F TM domain 3 None9 SCN5A - Long QT syndrome
SCN9A - Erythermalgia, primary
1172-Q TM domain 3 None7 SCN1A - Hemiplegic migraine, Hemiplegic migraine 2
SCN2A - Epileptic encephalopathy, early infantile
SCN5A - Brugada syndrome, Long QT syndrome
1173-G TM domain 3 None6 SCN5A - Long QT syndrome
1174-E TM domain 3 None5 CACNA1F - Night blindness, congenital stationary, incomplete
1177-Y TM domain 3 None5 SCN1A - Hemiplegic migraine
SCN5A - Brugada syndrome
SCN8A - Epileptic encephalopathy
SCN9A - Paroxysmal extreme pain disorder
1178-K TM domain 3 None6 SCN1A - Hemiplegic migraine 2
SCN5A - Sudden adult death syndrome
SCN9A - Paroxysmal extreme pain disorder
1179-N TM domain 3 None5 SCN1A - Hemiplegic migraine 3
SCN5A - Long QT syndrome
1180-C TM domain 3 None5 SCN4A - Hyperkalaemic periodic paralysis, Paramyotonia congenita
SCN5A - Long QT syndrome
SCN9A - Paroxysmal extreme pain disorder
1181-E TM domain 3 None5 SCN5A - Long QT syndrome
SCN8A - Infantile seizures, benign and paroxysmal dyskines
1182-L TM domain 3 None3 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
1185-N TM domain 3 None3 SCN5A - Atrial fibrillation
1186-Q TM domain 3 None3 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 None3 CACNA1A - Hemiplegic migraine
SCN1A - Lennox-Gastaut syndrome
1190-V Interdomain Linker III-IV None3 SCN1A - Intractable epilepsy
SCN5A - Long QT syndrome, Sick sinus syndrome
1193-A Interdomain Linker III-IV None3 CACNA1F - Night blindness, congenital stationary, incomplete
SCN5A - Brugada syndrome
1194-L Interdomain Linker III-IV None3 SCN1A - Dravet syndrome
SCN5A - Long QT syndrome
1195-K Interdomain Linker III-IV None3 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
SCN5A - Long QT syndrome ?
1197-R Interdomain Linker III-IV None5 SCN5A - Long QT syndrome
1198-P Interdomain Linker III-IV None4 SCN1A - Dravet syndrome
SCN5A - Brugada syndrome
1203-I Interdomain Linker III-IV None5 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 None6 CACNA1H - Idiopathic epilepsy, generalised
1210-Y Interdomain Linker III-IV None9 SCN2A - Epileptic encephalopathy
1211-K Interdomain Linker III-IV None9 SCN5A - Cardiomyopathy, dilated
1212-V Interdomain Linker III-IV None9 SCN5A - Brugada syndrome
1213-W Interdomain Linker III-IV None9 SCN5A - Long QT syndrome 3
1216-V Interdomain Linker III-IV None9 SCN1A - Dravet syndrome
SCN5A - Brugada syndrome
1217-N Interdomain Linker III-IV None9 SCN1A - Dravet syndrome
1219-T Interdomain Linker III-IV None9 SCN2A - Seizures, benign infantile
1221-F Interdomain Linker III-IV None9 SCN1A - Cryptogenic focal epilepsy
1222-E Interdomain Linker III-IV None9 SCN1A - Dravet syndrome, Dravet syndrome C ?
1223-Y Interdomain Linker III-IV None9 SCN1A - Myoclonic epilepsy of infancy
SCN5A - Long QT syndrome
1226-F Interdomain Linker III-IV Prob. Benign (0)9 SCN4A - Hyperkalaemic periodic paralysis
1229-I Interdomain Linker III-IV None9 SCN4A - Paramyotonia congenita
1230-L Interdomain Linker III-IV None9 SCN1A - Dravet syndrome
1233-T Interdomain Linker III-IV None9 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 None9 SCN4A - Hyperkalaemic periodic paralysis
1239-Q Interdomain Linker III-IV None9 SCN1A - Dravet syndrome
SCN5A - Brugada syndrome
1244-S TM domain 4 None9 SCN5A - Brugada syndrome
1247-F TM domain 4 Prob. Benign (0)9 SCN9A - Small fibre neuropathy
1251-M TM domain 4 None9 SCN2A - Neonatal-infantile seizures
SCN5A - Long QT syndrome
1253-I TM domain 4 None9 SCN1A - Rasmussen encephalitis
SCN9A - Chronic non-paroxysmal neuropathic pain
1254-L TM domain 4 None9 SCN1A - Phenotype modifier
1257-L TM domain 4 None9 SCN1A - Dravet syndrome
1259-T TM domain 4 None9 SCN4A - Paramyotonia congenita
1261-L TM domain 4 None9 CACNA1F - Night blindness, congenital stationary, incomplete
1262-F TM domain 4 None9 SCN5A - Brugada syndrome
1264-V TM domain 4 Prob. Benign (0)9 SCN1A - Dravet syndrome
1265-E TM domain 4 None9 SCN5A - Brugada syndrome
1266-M TM domain 4 None9 SCN10A - Atrial fibrillation
SCN1A - Myoclonic epilepsy of infancy
1267-I TM domain 4 None9 SCN1A - Dravet syndrome
1269-K TM domain 4 None9 SCN5A - Sinus node dysfunction and atrial flutter
1270-L TM domain 4 None9 SCN1A - Dravet syndrome B ?, Dravet syndrome C ?
1273-F TM domain 4 None9 SCN5A - Brugada syndrome
1274-K TM domain 4 None9 SCN1A - Cryptogenic focal epilepsy, Dravet syndrome, Generalized epilepsy with febrile seizures plus ?
SCN5A - Brugada syndrome
1276-K TM domain 4 None8 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 None9 SCN2A - Neonatal-infantile seizures, benign familial
1282-A TM domain 4 None9 SCN2A - Epilepsy of infancy with migrating focal seizures
1284-N TM domain 4 None9 SCN1A - Dravet syndrome B ?
1285-T TM domain 4 None9 SCN2A - Neonatal-infantile seizures ?
SCN5A - Long QT syndrome
1286-F TM domain 4 None9 SCN4A - hyperkalemic periodic paralysis
SCN5A - Long QT syndrome
1287-D TM domain 4 None9 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 None9 SCN5A - Long QT syndrome
1290-I TM domain 4 None9 SCN1A - Myoclonic epilepsy of infancy
SCN8A - Epileptic encephalopathy
1291-V TM domain 4 None9 CACNA1H - Amyotrophic lateral sclerosis
SCN1A - Dravet syndrome
1294-S TM domain 4 None9 CACNA1F - Night blindness, congenital stationary, incomplete
SCN8A - Intellectual disability and epilepsy
1295-I TM domain 4 None9 SCN1A - Generalized epilepsy with febrile seizures plus
1296-V TM domain 4 None9 SCN5A - Brugada syndrome
1298-I TM domain 4 None9 SCN1A - Intractable epilepsy
1300-I TM domain 4 None9 SCN4A - Hyperkalaemic periodic paralysis
1301-T TM domain 4 None9 SCN4A - Myotonia, non-dystrophic
SCN5A - Long QT syndrome, Sudden infant death syndrome
1303-V TM domain 4 None9 SCN1A - Hemiplegic migraine
SCN4A - Paramyotonia congenita
SCN8A - Epileptic encephalopathy
1305-P TM domain 4 None4 SCN5A - Brugada syndrome
1319-E TM domain 4 None2 CACNA1H - Idiopathic epilepsy, generalised
1322-R TM domain 4 None6 SCN5A - Sick sinus syndrome
1323-I TM domain 4 None5 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy, Myoclonic epilepsy, borderline
SCN4A - Congenital myasthenic syndrome ?
1325-I TM domain 4 None6 SCN1A - Myoclonic epilepsy of infancy
1326-T TM domain 4 None7 SCN2A - Ohtahara syndrome
SCN5A - Cardiac conduction disease, Ventricular fibrillation, idiopathic
1329-R TM domain 4 None6 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 None6 SCN1A - Hepatic coma
1331-F TM domain 4 None6 SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy
1332-R TM domain 4 None6 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 None6 SCN8A - Intellectual disability and epilepsy
1334-M TM domain 4 None7 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 None7 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 None7 SCN4A - Paramyotonia congenita
1338-K TM domain 4 None9 CACNA1A - Hemiplegic migraine
SCN1A - Generalised epilepsy with febrile seizures plus 2, Myoclonic epilepsy of infancy
SCN4A - Myotonia
1339-L TM domain 4 None9 SCN1A - Hemiplegic migraine
SCN4A - Myotonia
SCN9A - Paroxysmal extreme pain disorder
1341-S TM domain 4 None9 SCN10A - Atrial fibrillation
SCN2A - Seizures, benign infantile
1343-G TM domain 4 None9 SCN1A - Dravet syndrome B ?
1345-G TM domain 4 None9 SCN5A - Brugada syndrome
1346-I TM domain 4 None9 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 None9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
SCN5A - Long QT syndrome
1349-L TM domain 4 None9 SCN5A - Long QT syndrome
1350-L TM domain 4 None9 CACNA1A - Hemiplegic migraine
SCN1A - Dravet syndrome C ?
SCN2A - Epileptic encephalopathy, early infantile
1351-W TM domain 4 None9 CACNA1A - Hemiplegic migraine with cerebellar signs
SCN1A - Hemiplegic migraine, Myoclonic epilepsy of infancy
SCN4A - Paramyotonia congenita
1352-T TM domain 4 None9 SCN1A - Myoclonic epilepsy, borderline
SCN5A - Brugada syndrome
1353-F TM domain 4 None9 SCN5A - Long QT syndrome, Sudden unexplained death
1354-I TM domain 4 None9 SCN1A - Dravet syndrome
SCN4A - Myotonia, Paramyotonia congenita
SCN8A - Partial seizures with intellectual / developmental
SCN9A - Paroxysmal extreme pain disorder
1355-K TM domain 4 None9 SCN5A - Long QT syndrome
1356-S TM domain 4 None9 SCN1A - Dravet syndrome
1357-F TM domain 4 None9 SCN1A - Dravet syndrome C ?
1358-Q TM domain 4 None9 CACNA1S - Myopathy
SCN1A - Dravet syndrome, Dravet syndrome B ?, Myoclonic epilepsy of infancy
1359-A TM domain 4 None9 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 None9 SCN2A - Encephalopathy, recurrent
1362-Y TM domain 4 None9 SCN1A - Dravet syndrome, Dravet syndrome C ?
1363-V TM domain 4 None9 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 None9 SCN1A - Acute encephalopathy with biphasic seizures & late, Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
1365-L TM domain 4 None9 SCN1A - Dravet syndrome
1367-I TM domain 4 None9 SCN1A - Dravet syndrome
1370-L TM domain 4 None9 SCN5A - Long QT syndrome
1373-I TM domain 4 None9 SCN1A - Dravet syndrome C ?, Epilepsy ?
SCN4A - Hyperkalaemic periodic paralysis
1374-Y TM domain 4 None9 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 None9 CACNA1A - Hemiplegic migraine
SCN1A - Myoclonic epilepsy of infancy
1378-G TM domain 4 None9 SCN1A - Dravet syndrome, Dravet syndrome C ?
1382-F TM domain 4 None9 SCN1A - Myoclonic epilepsy of infancy
1383-G TM domain 4 None9 CACNA1F - Night blindness, congenital stationary, incomplete
SCN5A - Sudden adult death syndrome
1384-K TM domain 4 None9 SCN1A - Myoclonic epilepsy of infancy
1390-T TM domain 4 None6 CACNA1A - Hemiplgic migraine ?
SCN5A - Sudden cardiac death
1394-N TM domain 4 None9 SCN10A - Painful small fibre neuropathy with gastroparesis
SCN1A - Dravet syndrome
1395-R TM domain 4 None9 SCN1A - Dravet syndrome
SCN5A - Brugada syndrome
1396-N TM domain 4 None9 CACNA1A - Episodic ataxia 2
1399-F TM domain 4 None9 SCN1A - Myoclonic epilepsy of infancy
1401-T TM domain 4 None9 SCN1A - Myoclonic epilepsy of infancy
1403-P TM domain 4 None9 SCN5A - Brugada syndrome
1405-A TM domain 4 None9 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 None9 CACNA1F - Night blindness, congenital stationary, incomplete
SCN1A - Myoclonic epilepsy of infancy
1409-L TM domain 4 None9 CACNA1A - Episodic ataxia 2
SCN1A - Dravet syndrome
1410-F TM domain 4 None9 SCN5A - Sudden infant death syndrome
1411-R TM domain 4 None9 CACNA1A - Episodic ataxia 2
SCN5A - Brugada syndrome
1413-A TM domain 4 None9 SCN1A - Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
1414-T TM domain 4 None9 SCN1A - Dravet syndrome
SCN5A - Brugada syndrome
1415-G TM domain 4 None9 CACNA1A - Epilepsy with typical absence seizures
SCN5A - Ventricular fibrillation, idiopathic
1416-E TM domain 4 None9 CACNA1A - Episodic ataxia 2
SCN1A - Intractable epilepsy
1417-A TM domain 4 None9 SCN10A - Small fibre neuropathy
SCN1A - Dravet syndrome
SCN4A - Essential tremor
SCN5A - Brugada syndrome
1418-W TM domain 4 None9 SCN1A - Myoclonic epilepsy of infancy
1419-Q TM domain 4 None9 SCN1A - Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
1420-D TM domain 4 None9 CACNA1F - Usher syndrome ?
1422-M TM domain 4 None9 SCN5A - Brugada syndrome
1424-A TM domain 4 None9 SCN1A - Dravet syndrome
1427-P TM domain 4 None7 SCN5A - Brugada syndrome
1428-G TM domain 4 None5 SCN5A - Long QT syndrome
1429-K TM domain 4 None6 SCN1A - Generalized epilepsy with febrile seizures plus ?
1431-C TM domain 4 None9 SCN1A - Dravet syndrome, Lennox-Gastaut syndrome, Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
1432-A TM domain 4 None8 SCN1A - Dravet syndrome, late-onset, Generalized epilepsy with febrile seizures plus
1434-E TM domain 4 None7 SCN1A - Generalized epilepsy with febrile seizures plus
1439-N TM domain 4 None3 SCN1A - Myoclonic epilepsy of infancy
1442-E TM domain 4 None3 SCN4A - Seizures
1443-G TM domain 4 None3 SCN5A - Long QT syndrome
1444-E TM domain 4 None3 SCN1A - Dravet syndrome
SCN2A - Autism spectrum disorder
SCN5A - Brugada syndrome
1445-T TM domain 4 None3 SCN1A - Dravet syndrome
1447-C TM domain 4 None5 SCN1A - Myoclonic epilepsy of infancy
SCN9A - Congenital indifference to pain
1448-G TM domain 4 None5 SCN1A - Dravet syndrome
SCN5A - Brugada syndrome, Brugada syndrome ?
1449-S TM domain 4 None5 CACNA1S - Malignant hyperthermia
1450-S TM domain 4 None7 SCN5A - Long QT syndrome
1451-F TM domain 4 None9 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 None9 SCN1A - Dravet syndrome C ?
1455-Y TM domain 4 None9 CACNA1F - Night blindness, congenital stationary, incomplete
SCN1A - Partial epilepsy with febrile seizures plus
1459-F TM domain 4 None9 SCN1A - Generalized epilepsy with febrile seizures plus
1460-Y TM domain 4 None9 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 None9 SCN5A - Long QT syndrome
1463-C TM domain 4 None9 SCN1A - Myoclonic epilepsy of infancy
1464-A TM domain 4 None9 CACNA1A - Episodic ataxia 2
SCN8A - Epileptic encephalopathy, infantile
1465-F TM domain 4 None9 SCN5A - Long QT syndrome
1467-I TM domain 4 None9 SCN4A - Myotonia
SCN5A - Long QT syndrome
SCN9A - Paroxysmal extreme pain disorder
1468-I TM domain 4 None9 SCN5A - Brugada syndrome
1469-N TM domain 4 None9 SCN10A - Brugada syndrome
1470-L TM domain 4 None9 SCN1A - Myoclonic epilepsy of infancy
SCN2A - Epileptic encephalopathy, neonatal
SCN4A - Hyperkalaemic periodic paralysis
SCN5A - Brugada syndrome, Long QT syndrome
1471-F TM domain 4 None9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
SCN5A - Long QT syndrome
1472-V TM domain 4 None9 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 None9 SCN5A - Long QT syndrome
1477-D TM domain 4 None9 SCN1A - Myoclonic epilepsy of infancy
1478-N TM domain 4 None9 SCN5A - Brugada syndrome, Long QT syndrome, Sudden unexplained death
SCN8A - Epileptic encephalopathy, infantile
1481-Y TM domain 4 None9 SCN5A - Long QT syndrome
1482-L TM domain 4 None9 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 None9 SCN5A - Irritable bowel syndrome
1485-D TM domain 4 None9 SCN1A - Generalized epilepsy with febrile seizures plus
SCN5A - Long QT syndrome
1488-I TM domain 4 None6 SCN5A - Long QT syndrome
1489-L TM domain 4 None9 SCN5A - Brugada syndrome
1490-G TM domain 4 None5 SCN5A - Long QT syndrome
1492-H TM domain 4 None8 CACNA1H - Autism spectrum disorder ?
SCN2A - Epilepsy, idiopathic
1493-H TM domain 4 None8 SCN5A - Long QT syndrome, Sick sinus syndrome, autosomal recessive
1495-D TM domain 4 None8 SCN5A - Cardiac sinus node dysfunction
1497-F TM domain 4 None8 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
1498-K TM domain 4 None8 SCN5A - Brugada syndrome, Long QT syndrome
1501-W TM domain 4 None8 CACNA1F - Night blindness, congenital stationary, incomplete
SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
SCN9A - Congenital indifference to pain
1510-G TM domain 4 None9 SCN4A - Myotonia, potassium-aggravated
SCN8A - Epileptic encephalopathy
1512-I TM domain 4 None9 SCN1A - Generalized epilepsy with febrile seizures plus
1520-L TM domain 4 None9 SCN1A - Myoclonic epilepsy of infancy
1521-L TM domain 4 None9 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 None9 SCN1A - Dravet syndrome
1527-P C-terminus None8 CACNA1F - Night blindness, congenital stationary, incomplete
SCN5A - Long QT syndrome
1528-L C-terminus None8 SCN1A - Dravet syndrome
SCN2A - Epileptic encephalopathy, early infantile
SCN5A - Long QT syndrome, drug-associated
1529-G C-terminus None7 CACNA1F - Night blindness, congenital stationary, incomplete
SCN5A - Atrial fibrillation ?, Sudden infant death syndrome
1534-C C-terminus None4 CACNA1A - Episodic ataxia 2
CACNA1F - Night blindness, congenital stationary, incomplete
1535-P C-terminus None5 CACNA1F - Night blindness, congenital stationary, incomplete
1537-R C-terminus None6 SCN5A - Brugada syndrome
1543-L C-terminus None9 CACNA1F - Night blindness, congenital stationary, incomplete
1544-V C-terminus None9 SCN5A - Cardiomyopathy, dilated
1546-M C-terminus None9 SCN1A - Dravet syndrome C ?, Generalized epilepsy with febrile seizures plus
1547-N C-terminus None9 SCN5A - Long QT syndrome
1549-P C-terminus None8 SCN1A - Dravet syndrome C ?
1550-L C-terminus None8 SCN1A - Generalized epilepsy with febrile seizures plus
1551-N C-terminus None6 SCN1A - Generalised epilepsy with febrile seizures plus 2
1555-T C-terminus None9 SCN1A - Intractable epilepsy
SCN5A - Brugada syndrome
1557-M C-terminus None9 SCN2A - Ohtahara syndrome
SCN5A - Arrhythmia
1558-F C-terminus None8 SCN5A - Brugada syndrome
1560-A C-terminus Prob. Benign (0)7 SCN1A - Generalized epilepsy with febrile seizures plus
1561-T C-terminus None8 SCN1A - Generalized epilepsy with febrile seizures plus
1565-L C-terminus None8 SCN11A - Painful peripheral neuropathy
1568-T C-terminus Prob. Benign (0)8 SCN5A - Long QT syndrome
1569-A C-terminus None8 SCN5A - Brugada syndrome
1576-G C-terminus None3 SCN1A - Dravet syndrome C ?
1577-N C-terminus None5 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
1580-Q C-terminus None4 SCN5A - Long QT syndrome
1581-A C-terminus None4 SCN8A - Epileptic encephalopathy, infantile
1582-N C-terminus None4 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
SCN5A - Brugada syndrome
1585-L C-terminus None4 SCN5A - Atrial fibrillation
1586-R C-terminus Prob. Benign (0)4 SCN4A - Paramyotonia congenita
SCN8A - Epilepsy
1588-I C-terminus None4 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 None3 SCN4A - Myotonia
1590-K C-terminus None4 SCN5A - Sick sinus syndrome
1595-R C-terminus None4 SCN8A - Benign familial infantile epilepsy
1599-K C-terminus None5 SCN5A - Cardiomyopathy, hypertrophic
1602-D C-terminus None4 SCN5A - Sudden unexplained death
1603-Q C-terminus None4 SCN1A - Autism spectrum disorder
1607-P C-terminus Arrhythmia (1)4 SCN1A - Myoclonic epilepsy of infancy
1608-A C-terminus None4 SCN5A - Irritable bowel syndrome
1609-G C-terminus None4 SCN5A - Long QT syndrome
1610-D C-terminus None4 SCN2A - Autism ?
SCN5A - Brugada syndrome
1613-V C-terminus Prob. Benign (0)5 SCN3A - Autism spectrum disorder
SCN5A - Long QT syndrome
1616-G C-terminus None6 SCN5A - Long QT syndrome
1624-I C-terminus None8 SCN1A - Myoclonic epilepsy of infancy
1625-Q C-terminus None8 SCN1A - Partial epilepsy with febrile seizures plus
SCN5A - Long QT syndrome
1629-R C-terminus None8 CACNA1A - Epilepsy, idiopathic
SCN10A - Brugada syndrome
SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus
SCN5A - Long QT syndrome
1630-K C-terminus None8 SCN1A - Myoclonic epilepsy of infancy
SCN2A - Epilepsy, idiopathic generalised ?
1635-K C-terminus None6 SCN10A - Brugada syndrome
1639-L C-terminus None3 SCN1A - Generalised epilepsy with febrile seizures plus 2
1640-V C-terminus None2 SCN5A - Brugada syndrome
1641-G C-terminus None2 CACNA1H - Autism spectrum disorder
1643-P C-terminus None2 CACNA1S - Hypokalaemic periodic paralysis with malignant hyp
1650-S C-terminus None2 SCN5A - Brugada syndrome
1652-Q C-terminus None1 SCN10A - Atrial fibrillation & slow ventricular rates
1656-R C-terminus Prob. Benign (0)1 SCN1A - Autism ?
1658-L C-terminus None1 SCN1A - Myoclonic epilepsy of infancy
1661-I C-terminus Prob. Benign (0)1 SCN5A - Brugada syndrome, Long QT syndrome
1663-P C-terminus None2 SCN5A - Atrial fibrillation, Brugada syndrome
1671-G C-terminus Prob. Benign (0)2 CACNA1A - Hemiplegic migraine
1689-A C-terminus Prob. Benign (0)1 SCN5A - Long QT syndrome
1700-G C-terminus Prob. Benign (0)2 SCN5A - Brugada syndrome ?
1710-Y C-terminus Prob. Benign (0)2 SCN5A - Long QT syndrome
1749-V C-terminus None1 SCN5A - Brugada syndrome
1750-D C-terminus None1 SCN1A - Acute encephalopathy
1764-N C-terminus None1 SCN1A - Epilepsy-aphasia with febrile seizures plus
1822-Q C-terminus Prob. Benign (0)1 CACNA1A - Episodic ataxia 2
1896-R C-terminus None2 SCN5A - Atrial fibrillation
1897-A C-terminus None2 SCN5A - Long QT syndrome
1900-H C-terminus None2 SCN5A - Long QT syndrome
2068-D C-terminus Prob. Benign (0)3 CACNA1F - MRX
2088-Q C-terminus None2 CACNA1S - Exertional heat illness
2098-V C-terminus None1 CACNA1H - Intellectual disability, microcephaly and cortical
2125-E C-terminus None2 SCN5A - Sudden unexplained death
2126-E C-terminus None2 SCN5A - Brugada syndrome ?, Long QT syndrome
2127-E C-terminus Prob. Benign (0)2 SCN5A - Cardiomyopathy, dilated ?
2128-L C-terminus None3 SCN5A - Long QT syndrome ?
2134-Y C-terminus None3 SCN5A - Brugada syndrome, Long QT syndrome
2138-L C-terminus None4 SCN5A - Brugada syndrome