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.



Amino acid residues of SCN5A with known missense variants or 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.

ResidueDomainKnown Variant Status ConsensusMapped Paralogues and Variant Disease
1-M N-terminusArrhythmia (1)
2-A N-terminusArrhythmia (1)
3-N N-terminusProb. Benign (0)
7-P N-terminusProb. Benign (0)
8-R N-terminusProb. Benign (0)
9-G N-terminusArrhythmia (2)
10-T N-terminusProb. Benign (0)
11-S N-terminusNone2 SCN9A - Erythermalgia, primary
14-R N-terminusProb. Benign (0)3 SCN10A - Brugada syndrome
15-R N-terminusOther Cardiac (1)
16-F N-terminusProb. Benign (0)
18-R N-terminusArrhythmia (8)
19-E N-terminusNone3 SCN10A - Brugada syndrome
20-S N-terminusProb. Benign (0)
22-A N-terminusProb. Benign (0)
23-A N-terminusProb. Benign (0)3 SCN1A - Dravet syndrome
24-I N-terminusNone3 CACNA1C - Long QT, non-syndromic
25-E N-terminusProb. Benign (0)
26-K N-terminusNone3 SCN1A - Generalized epilepsy with febrile seizures plus
27-R N-terminusArrhythmia (3)2 SCN1A - Generalized epilepsy with febrile seizures plus
SCN2A - Autism spectrum disorder
28-M N-terminusProb. Benign (0)
29-A N-terminusArrhythmia (1)
30-E N-terminusArrhythmia (1)
34-R N-terminusConflict (9)
35-G N-terminusArrhythmia (4)
37-T N-terminusProb. Benign (0)
38-T N-terminusNone2 CACNA1C - Sudden cardiac death
41-E N-terminusNone1 CACNA1C - Sudden arrhythmic death syndrome
43-R N-terminusArrhythmia (3)
45-G N-terminusNone2 CACNA1C - Brugada syndrome (shorter-than-normal QT interval)
48-E N-terminusArrhythmia (1)2 SCN1A - Epilepsy ?
49-E N-terminusProb. Benign (0)
51-A N-terminusProb. Benign (0)
52-P N-terminusArrhythmia (1)
53-R N-terminusArrhythmia (1)
57-D N-terminusNone2 SCN8A - Intellectual disability and epilepsy
61-S N-terminusNone3 SCN1A - Dravet syndrome
62-K N-terminusProb. Benign (0)
64-L N-terminusNone3 SCN1A - Dravet syndrome
65-P N-terminusProb. Benign (0)
66-D N-terminusNone2 SCN1A - Dravet syndrome
67-L N-terminusNone3 SCN9A - Febrile seizures
69-G N-terminusProb. Benign (0)
70-N N-terminusArrhythmia (2)
71-P N-terminusNone2 SCN1A - Dravet syndrome B ?
72-P N-terminusNone2 SCN4A - Myotonic dystrophy, type 2
77-G N-terminusNone3 SCN1A - Myoclonic epilepsy of infancy
79-P N-terminusProb. Benign (0)
81-E N-terminusNone3 SCN1A - Myoclonic epilepsy of infancy
82-D N-terminusProb. Benign (0)3 SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy
84-D N-terminusArrhythmia (1)3 SCN1A - Dravet syndrome
85-P N-terminusProb. Benign (0)
86-F N-terminusProb. Benign (0)
87-Y N-terminusArrhythmia (1)4 SCN1A - Myoclonic epilepsy of infancy
88-S N-terminusProb. Benign (0)
90-Q N-terminusNone
92-T N-terminusProb. Benign (0)
93-F N-terminusArrhythmia (2)5 SCN1A - Myoclonic epilepsy of infancy
94-I N-terminusArrhythmia (2)5 SCN1A - Myoclonic epilepsy of infancy
95-V N-terminusArrhythmia (3)4 SCN10A - Atrial fibrillation
96-L N-terminusNone4 SCN1A - Dravet syndrome
101-T N-terminusProb. Benign (0)6 SCN1A - Dravet syndrome C ?
102-I N-terminusArrhythmia (1)
104-R N-terminusArrhythmia (8)7 SCN1A - Myoclonic epilepsy of infancy
SCN4A - Myopathy, congenital
106-S N-terminusProb. Benign (0)8 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
107-A N-terminusNone8 SCN1A - Dravet syndrome
108-T N-terminusNone8 SCN1A - Myoclonic epilepsy of infancy
109-N N-terminusArrhythmia (2)8 CACNA1F - Night blindness, congenital stationary 2
SCN1A - Dravet syndrome
110-A N-terminusArrhythmia (3)
111-L N-terminusNone9 SCN1A - Dravet syndrome, Epilepsy ?
112-Y N-terminusProb. Benign (0)
113-V N-terminusArrhythmia (1)9 CACNA1F - Night blindness, congenital stationary, incomplete
115-S N-terminusArrhythmia (1)9 SCN1A - Myoclonic epilepsy of infancy
116-P N-terminusNone9 SCN1A - Dravet syndrome
119-P N-terminusProb. Benign (0)
120-I N-terminusNone
121-R N-terminusArrhythmia (7)9 CACNA1F - Congenital stationary night blindness, Night blindness, congenital stationary, incomplete
SCN1A - Myoclonic epilepsy of infancy
123-A N-terminusProb. Benign (0)
124-A N-terminusArrhythmia (1)
125-V N-terminusArrhythmia (4)9 SCN9A - Dravet syndrome
126-K N-terminusArrhythmia (4)
127-I TM Domain 1None9 CACNA1F - Congenital stationary night blindness
SCN1A - Dravet syndrome
128-L TM Domain 1None9 SCN4A - Myotonia
130-H TM Domain 1None9 SCN1A - Dravet syndrome, Dravet syndrome B ?, Epilepsy with febrile seizures plus
134-N TM Domain 1None9 CACNA1A - Epilepsy of infancy with migrating focal seizures
CACNA1F - High myopia
SCN2A - Epileptic encephalopathy, early onset
135-M TM Domain 1Prob. Benign (0)
136-L TM Domain 1Arrhythmia (2)
137-I TM Domain 1Prob. Benign (1)
138-M TM Domain 1Arrhythmia (2)9 SCN10A - Brugada syndrome
SCN2A - Epileptic encephalopathy, early onset
139-C TM Domain 1None9 CACNA1F - Congenital stationary night blindness
141-I TM Domain 1Other Cardiac (1)9 SCN1A - Dravet syndrome
SCN4A - Myotonia
SCN9A - Erythermalgia, primary
143-T TM Domain 1Prob. Benign (0)
146-V TM Domain 1Arrhythmia (1)
148-M TM Domain 1None9 SCN1A - Dravet syndrome, Febrile seizures
149-A TM Domain 1Other Cardiac (1)
152-D TM Domain 1Prob. Benign (0)
154-P TM Domain 1None5 SCN9A - Febrile seizures
159-Y TM Domain 1Prob. Benign (0)
161-E TM Domain 1Arrhythmia (9)
162-Y TM Domain 1Prob. Benign (0)8 SCN10A - Atrial fibrillation, early-onset
164-F TM Domain 1Prob. Benign (0)
165-T TM Domain 1None7 SCN1A - Myoclonic epilepsy of infancy
166-A TM Domain 1Prob. Benign (1)7 SCN1A - Dravet syndrome
169-T TM Domain 1None9 CACNA1C - Sudden unexplained death
170-F TM Domain 1Prob. Benign (0)
171-E TM Domain 1None9 CACNA1A - Episodic ataxia 2
SCN2A - Epileptic encephalopathy, early onset
174-V TM Domain 1Prob. Benign (0)9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
SCN2A - Acute encephalopathy with biphasic seizures & late
175-K TM Domain 1Arrhythmia (1)
176-I TM Domain 1Arrhythmia (1)
178-A TM Domain 1Arrhythmia (2)9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
179-R TM Domain 1Prob. Benign (0)
180-G TM Domain 1None9 CACNA1F - Night blindness, congenital stationary, incomplete
SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
181-F TM Domain 1None9 SCN1A - Intractable epilepsy
182-C TM Domain 1Arrhythmia (1)9 SCN1A - Myoclonic epilepsy of infancy
183-L TM Domain 1None9 CACNA1H - Epilepsy, childhood absence
184-H TM Domain 1None
185-A TM Domain 1Arrhythmia (3)
186-F TM Domain 1None9 CACNA1A - Episodic ataxia 2
187-T TM Domain 1Arrhythmia (2)9 CACNA1F - Night blindness, congenital stationary 2
190-R TM Domain 1Arrhythmia (4)9 SCN2A - Febrile and afebrile seizures
SCN9A - Small fibre neuropathy
191-D TM Domain 1None9 SCN1A - Generalized epilepsy with febrile seizures plus
193-W TM Domain 1None9 SCN10A - Brugada syndrome
SCN1A - Myoclonic epilepsy of infancy
194-N TM Domain 1None9 SCN1A - Dravet syndrome
196-L TM Domain 1None9 SCN1A - Generalized epilepsy with febrile seizures plus
197-D TM Domain 1None9 SCN1A - Dravet syndrome, Dravet syndrome C ?, Myoclonic epilepsy of infancy
201-I TM Domain 1Prob. Benign (0)
202-I TM Domain 1None9 SCN1A - Myoclonic epilepsy of infancy
203-M TM Domain 1None9 SCN4A - Myopathy, congenital
204-A TM Domain 1Arrhythmia (1)9 SCN10A - Brugada syndrome
205-Y TM Domain 1Prob. Benign (0)
207-T TM Domain 1None
209-F TM Domain 1None6 SCN8A - Epileptic encephalopathy
210-V TM Domain 1None7 SCN10A - Brugada syndrome
SCN2A - Infantile seizures, benign
212-L TM Domain 1Arrhythmia (4)
213-G TM Domain 1None5 SCN2A - West syndrome with hypotonia
SCN8A - Infantile spasms
214-N TM Domain 1None8 SCN2A - Ohtahara syndrome
SCN8A - Epileptic encephalopathy
215-V TM Domain 1None9 SCN1A - Dravet syndrome
SCN2A - Epileptic encephalopathy, early onset
SCN8A - Epileptic encephalopathy, infantile
216-S TM Domain 1Conflict (15)9 CACNA1A - Episodic ataxia 2, Hemiplegic migraine and episodic ataxia 2
SCN9A - Erythermalgia, primary
219-R TM Domain 1Prob. Benign (3)9 CACNA1A - Hemiplegic migraine
SCN11A - Episodic pain syndrome
220-T TM Domain 1Conflict (15)9 SCN1A - Myoclonic epilepsy of infancy
SCN2A - Epilepsy of infancy with migrating focal seizures
221-F TM Domain 1None9 SCN1A - Generalised epilepsy with febrile seizures plus 2
SCN9A - Erythermalgia, primary
222-R TM Domain 1None9 SCN11A - Episodic pain syndrome
SCN1A - Dravet syndrome
SCN2A - Epileptic encephalopathy
SCN4A - Hypokalaemic periodic paralysis
SCN8A - Epileptic encephalopathy
223-V TM Domain 1Arrhythmia (2)9 SCN1A - Malignant migrating partial seizures in infancy
225-R TM Domain 1Arrhythmia (14)9 SCN2A - Neonatal-infantile seizures
SCN4A - Myotonia, non-dystrophic
226-A TM Domain 1Arrhythmia (5)9 SCN1A - Dravet syndrome
227-L TM Domain 1Prob. Benign (0)
228-K TM Domain 1None9 CACNA1S - Malignant hyperthermia ?
SCN1A - Dravet syndrome
229-T TM Domain 1None9 CACNA1F - Congenital stationary night blindness
SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
230-I TM Domain 1Arrhythmia (2)9 SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy
232-V TM Domain 1Arrhythmia (6)9 CACNA1H - Autism spectrum disorder ?
233-I TM Domain 1None9 SCN9A - Dravet syndrome ?
235-G TM Domain 1Prob. Benign (0)9 SCN1A - Dravet syndrome
236-L TM Domain 1None9 SCN1A - Dravet syndrome C ?
238-T TM Domain 1None9 SCN2A - Ohtahara syndrome
239-I TM Domain 1Arrhythmia (1)9 SCN9A - Erythermalgia, primary
240-V TM Domain 1Arrhythmia (3)
242-A TM Domain 1None9 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 1None9 SCN1A - Generalized epilepsy with febrile seizures plus
245-Q TM Domain 1Arrhythmia (1)
246-S TM Domain 1None9 SCN10A - Brugada syndrome
SCN1A - Dravet syndrome
SCN9A - Erythermalgia, primary
247-V TM Domain 1Arrhythmia (1)
249-K TM Domain 1None9 CACNA1A - Hemiplegic migraine
250-L TM Domain 1None9 SCN4A - Isolated eyelid closure myotonia
SCN9A - Erythermalgia, primary
251-A TM Domain 1Prob. Benign (0)
252-D TM Domain 1None9 SCN1A - Dravet syndrome
254-M TM Domain 1None9 SCN2A - Neonatal-infantile seizures
255-V TM Domain 1None9 SCN1A - Intractable epilepsy, Myoclonic epilepsy of infancy
257-T TM Domain 1None9 SCN1A - Febrile seizures plus
259-F TM Domain 1None9 SCN8A - Epileptic encephalopathy
260-C TM Domain 1None9 SCN1A - Dravet syndrome
262-S TM Domain 1Prob. Benign (0)9 SCN1A - Dravet syndrome
263-V TM Domain 1Prob. Benign (0)9 SCN2A - Neonatal-infantile seizures
265-A TM Domain 1Prob. Benign (0)9 SCN2A - Epileptic encephalopathy, early onset, Neonatal epilepsy, late-onset ataxia, myoclonus &
266-L TM Domain 1Prob. Benign (0)9 SCN1A - Hemiplegic migraine and epilepsy
SCN4A - Myotonia
267-I TM Domain 1Arrhythmia (1)
268-G TM Domain 1Prob. Benign (0)9 CACNA1F - Night blindness, congenital stationary 2
SCN1A - Myoclonic epilepsy of infancy
270-Q TM Domain 1Arrhythmia (3)
271-L TM Domain 1None9 SCN9A - Febrile seizures
272-F TM Domain 1None9 CACNA1A - Episodic ataxia 2
273-M TM Domain 1Prob. Benign (0)
274-G TM Domain 1None9 CACNA1F - Night blindness, congenital stationary, incomplete
275-N TM Domain 1Arrhythmia (2)
276-L TM Domain 1Arrhythmia (3)
277-R TM Domain 1None9 CACNA1A - Episodic ataxia 2
278-H TM Domain 1Arrhythmia (1)
279-K TM Domain 1None9 SCN1A - Dravet syndrome
280-C TM Domain 1Arrhythmia (1)9 CACNA1A - Episodic ataxia 2
SCN1A - Dravet syndrome
281-V TM Domain 1Arrhythmia (1)
282-R TM Domain 1Arrhythmia (5)7 CACNA1C - Brugada syndrome
283-N TM Domain 1None6 SCN1A - Myoclonic epilepsy of infancy
284-F TM Domain 1None2 SCN1A - Myoclonic epilepsy of infancy
285-T TM Domain 1Prob. Benign (0)
286-A TM Domain 1Prob. Benign (2)2 CACNA1H - Epilepsy, childhood absence
288-N TM Domain 1Prob. Benign (0)3 SCN3A - Epilepsy
289-G TM Domain 1Arrhythmia (2)
291-N TM Domain 1Other Cardiac (3)
292-G TM Domain 1Arrhythmia (1)
294-V TM Domain 1Arrhythmia (2)
295-E TM Domain 1Prob. Benign (0)
297-D TM Domain 1None
298-G TM Domain 1Other Cardiac (2)
299-L TM Domain 1Prob. Benign (2)
300-V TM Domain 1Arrhythmia (2)
304-L TM Domain 1None4 SCN1A - Generalized epilepsy with febrile seizures plus, Myoclonic-astatic epilepsy ?
305-D TM Domain 1Prob. Benign (0)
306-L TM Domain 1Prob. Benign (0)
307-Y TM Domain 1None4 SCN1A - Dravet syndrome
308-L TM Domain 1None3 CACNA1H - Epilepsy, childhood absence
310-D TM Domain 1None3 SCN2A - Neonatal-infantile seizures
312-E TM Domain 1None4 SCN1A - Myoclonic epilepsy of infancy
314-Y TM Domain 1None
315-L TM Domain 1Arrhythmia (1)7 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
316-L TM Domain 1None6 SCN2A - Neonatal-infantile seizures
317-K TM Domain 1Arrhythmia (1)
319-G TM Domain 1Arrhythmia (3)
320-T TM Domain 1Arrhythmia (1)
321-S TM Domain 1Arrhythmia (1)
325-L TM Domain 1Arrhythmia (2)
326-C TM Domain 1None5 CACNA1A - Paroxysmal tonic upward gaze
SCN1A - Dravet syndrome
330-S TM Domain 1Prob. Benign (0)4 SCN1A - Dravet syndrome
332-A TM Domain 1Prob. Benign (0)3 SCN1A - Dravet syndrome, Dravet syndrome C ?
333-G TM Domain 1None4 SCN1A - Myoclonic epilepsy of infancy
335-C TM Domain 1Arrhythmia (1)5 SCN1A - Dravet syndrome, Dravet syndrome C, Dravet syndrome C ?, Myoclonic epilepsy of infancy
336-P TM Domain 1Arrhythmia (2)
339-Y TM Domain 1None7 SCN1A - Dravet syndrome
340-R TM Domain 1Arrhythmia (5)8 SCN1A - Dravet syndrome
341-C TM Domain 1None9 CACNA1A - Episodic ataxia 2
SCN1A - Dravet syndrome
343-K TM Domain 1None8 SCN3A - Epilepsy, cryptogenic pediatric partial
345-G TM Domain 1None8 SCN1A - Dravet syndrome
346-E TM Domain 1Prob. Benign (0)9 SCN1A - Myoclonic epilepsy of infancy
SCN3A - Epilepsy, focal
347-N TM Domain 1None9 CACNA1A - Spinocerebellar ataxia 6
SCN1A - Dravet syndrome
348-P TM Domain 1Prob. Benign (0)9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
SCN4A - Myopathy, congenital
349-D TM Domain 1Other Cardiac (1)9 SCN1A - Dravet syndrome, Dravet syndrome C ?
350-H TM Domain 1None
351-G TM Domain 1Arrhythmia (3)9 CACNA1A - Episodic ataxia, global developmental delay, and m
CACNA1F - High myopia
352-Y TM Domain 1Other Cardiac (1)
353-T TM Domain 1Arrhythmia (2)9 SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy
355-F TM Domain 1None9 CACNA1A - Cerebellar ataxia
356-D TM Domain 1Arrhythmia (4)9 CACNA1A - Spinocerebellar ataxia 6
SCN1A - Myoclonic epilepsy of infancy
358-F TM Domain 1None
364-A TM Domain 1None9 SCN1A - Dravet syndrome
367-R TM Domain 1Arrhythmia (15)9 SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus
368-L TM Domain 1None9 SCN1A - Dravet syndrome
369-M TM Domain 1Arrhythmia (3)9 SCN1A - Dravet syndrome
370-T TM Domain 1Arrhythmia (3)
372-D TM Domain 1None9 SCN1A - Dravet syndrome, Epilepsy ?
373-C TM Domain 1None9 SCN1A - Myoclonic epilepsy of infancy
374-W TM Domain 1Arrhythmia (2)9 SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy
375-E TM Domain 1None9 SCN1A - Dravet syndrome
376-R TM Domain 1Arrhythmia (9)
378-Y TM Domain 1None8 SCN1A - Generalized epilepsy with febrile seizures plus
381-T TM Domain 1None9 SCN1A - Dravet syndrome
383-R TM Domain 1None8 SCN1A - Myoclonic epilepsy of infancy
384-S TM Domain 1Prob. Benign (0)
385-A TM Domain 1Prob. Benign (0)8 SCN1A - Cryptogenic generalised epilepsy
386-G TM Domain 1Arrhythmia (4)8 SCN1A - Dravet syndrome
388-I TM Domain 1Prob. Benign (0)
390-M TM Domain 1None9 SCN1A - Dravet syndrome, Dravet syndrome C ?
393-F TM Domain 1None9 SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy
394-M TM Domain 1None9 SCN11A - Painful peripheral neuropathy
396-V TM Domain 1Arrhythmia (4)9 SCN1A - Dravet syndrome
397-I TM Domain 1Arrhythmia (3)
398-F TM Domain 1None9 SCN1A - Epilepsy, idiopathic
399-L TM Domain 1None9 SCN1A - Myoclonic epilepsy of infancy
400-G TM Domain 1Other Cardiac (2)9 CACNA1F - Nightblindness-associated transient tonic downgaze
402-F TM Domain 1Prob. Benign (0)9 SCN10A - Brugada syndrome
SCN1A - Generalized epilepsy with febrile seizures plus
403-Y TM Domain 1None9 SCN1A - Myoclonic epilepsy of infancy
404-L TM Domain 1Arrhythmia (1)9 SCN10A - Brugada syndrome
406-N TM Domain 1Arrhythmia (6)9 SCN4A - Myotonia
SCN9A - Erythermalgia, primary
409-L TM Domain 1Arrhythmia (2)9 SCN8A - Intellectual disability and epilepsy
410-A TM Domain 1Prob. 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 1Arrhythmia (6)9 SCN4A - Myotonia
SCN9A - Erythermalgia, carbamazepine-responsive
412-V TM Domain 1None9 SCN1A - Cryptogenic generalised epilepsy, Dravet syndrome, Epileptic encephalopathy, infantile
SCN8A - Epileptic encephalopathy
413-A TM Domain 1Arrhythmia (2)
414-M TM Domain 1None9 CACNA1C - Timothy syndrome
CACNA1D - Autism
415-A TM Domain 1Prob. Benign (0)
416-Y Interdomain Linker I-IIProb. Benign (0)9 CACNA1A - Hemiplegic migraine
SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
418-E Interdomain Linker I-IINone9 SCN2A - Epileptic encephalopathy, early onset, Neonatal-infantile seizures ?
SCN4A - Myotonia, non-dystrophic
422-A Interdomain Linker I-IINone9 SCN1A - Dravet syndrome
424-I Interdomain Linker I-IIProb. Benign (0)
425-A Interdomain Linker I-IIProb. Benign (0)
428-E Interdomain Linker I-IIArrhythmia (4)
432-K Interdomain Linker I-IINone4 SCN11A - Painful peripheral neuropathy
433-R Interdomain Linker I-IIProb. Benign (0)
437-A Interdomain Linker I-IIProb. Benign (0)
438-M Interdomain Linker I-IIProb. Benign (0)
439-E Interdomain Linker I-IIArrhythmia (2)3 CACNA1A - Episodic ataxia 2
440-M Interdomain Linker I-IINone3 CACNA1A - Episodic ataxia 2
441-L Interdomain Linker I-IIProb. Benign (0)3 CACNA1A - Episodic ataxia 2
445-H Interdomain Linker I-IIConflict (2)
446-E Interdomain Linker I-IINone
447-A Interdomain Linker I-IIProb. Benign (3)
449-T Interdomain Linker I-IIProb. Benign (2)
452-G Interdomain Linker I-IINone
455-T Interdomain Linker I-IINone
456-V Interdomain Linker I-IIProb. Benign (0)
458-R Interdomain Linker I-IIOther Cardiac (1)
461-L Interdomain Linker I-IIConflict (5)
462-E Interdomain Linker I-IIArrhythmia (5)
463-M Interdomain Linker I-IIProb. Benign (0)
466-L Interdomain Linker I-IIArrhythmia (1)
467-A Interdomain Linker I-IINone
468-P Interdomain Linker I-IIOther Cardiac (1)
469-V Interdomain Linker I-IIProb. Benign (0)
470-N Interdomain Linker I-IIArrhythmia (1)
474-R Interdomain Linker I-IIProb. Benign (0)
475-R Interdomain Linker I-IIProb. Benign (2)
480-K Interdomain Linker I-IIProb. Benign (0)
481-R Interdomain Linker I-IIBenign (2)
484-S Interdomain Linker I-IINone2 SCN9A - Febrile seizures ?
485-G Interdomain Linker I-IINone2 CACNA1H - Epilepsy, childhood absence
486-T Interdomain Linker I-IIProb. Benign (0)
490-G Interdomain Linker I-IIProb. Benign (0)2 CACNA1A - Episodic ataxia 2
492-D Interdomain Linker I-IINone2 CACNA1H - Epilepsy, childhood absence
499-S Interdomain Linker I-IINone2 SCN1A - Dravet syndrome
501-D Interdomain Linker I-IIArrhythmia (1)
504-R Interdomain Linker I-IIProb. Benign (0)
505-A Interdomain Linker I-IIProb. Benign (0)
506-M Interdomain Linker I-IIArrhythmia (1)
509-L Interdomain Linker I-IINone2 SCN1A - Dravet syndrome
512-T Interdomain Linker I-IIOther Cardiac (1)
513-R Interdomain Linker I-IIProb. Benign (0)
514-G Interdomain Linker I-IIArrhythmia (2)
517-R Interdomain Linker I-IIProb. Benign (0)
519-S Interdomain Linker I-IIArrhythmia (1)
520-M Interdomain Linker I-IIProb. Benign (0)
521-K Interdomain Linker I-IIProb. Benign (0)3 SCN1A - Dravet syndrome
523-R Interdomain Linker I-IIArrhythmia (2)
524-S Interdomain Linker I-IIConflict (5)
526-R Interdomain Linker I-IIArrhythmia (5)
527-G Interdomain Linker I-IIProb. Benign (0)2 SCN2A - Neonatal-infantile seizures
528-S Interdomain Linker I-IIProb. Benign (0)
530-F Interdomain Linker I-IIArrhythmia (1)
531-T Interdomain Linker I-IIProb. Benign (0)
532-F Interdomain Linker I-IIArrhythmia (3)
533-R Interdomain Linker I-IIProb. Benign (0)
534-R Interdomain Linker I-IINone2 SCN9A - Dravet syndrome
535-R Interdomain Linker I-IIArrhythmia (2)
538-G Interdomain Linker I-IIProb. Benign (0)
543-F Interdomain Linker I-IIArrhythmia (1)
551-A Interdomain Linker I-IIArrhythmia (3)
552-G Interdomain Linker I-IIArrhythmia (3)
555-E Interdomain Linker I-IIArrhythmia (2)3 SCN9A - Dravet syndrome
557-H Interdomain Linker I-IIProb. Benign (0)3 SCN1A - Generalized epilepsy with febrile seizures plus ?
558-H Interdomain Linker I-IIConflict (25)
559-T Interdomain Linker I-IIOther Cardiac (1)
566-P Interdomain Linker I-IINone2 CACNA1G - Myoclonic epilepsy, juvenile
567-L Interdomain Linker I-IIArrhythmia (5)
568-R Interdomain Linker I-IIArrhythmia (3)
569-R Interdomain Linker I-IIArrhythmia (2)3 SCN1A - Epilepsy with febrile seizures plus & Dravet syndr
570-T Interdomain Linker I-IIProb. Benign (0)
571-S Interdomain Linker I-IIArrhythmia (1)
572-A Interdomain Linker I-IIConflict (20)
573-Q Interdomain Linker I-IIArrhythmia (2)
579-G Interdomain Linker I-IIArrhythmia (3)
581-S Interdomain Linker I-IIProb. Benign (0)
584-G Interdomain Linker I-IIProb. Benign (0)2 SCN1A - Cryptogenic generalised epilepsy
586-A Interdomain Linker I-IIArrhythmia (1)
588-H Interdomain Linker I-IIProb. Benign (0)2 SCN1A - Generalized epilepsy with febrile seizures plus
591-K Interdomain Linker I-IINone1 CACNA1H - Idiopathic epilepsy, generalised
SCN9A - Erythermalgia, primary
592-N Interdomain Linker I-IIArrhythmia (3)
596-D Interdomain Linker I-IIProb. Benign (2)2 SCN2A - Dravet syndrome
SCN9A - Small fibre neuropathy
599-G Interdomain Linker I-IIProb. Benign (0)
601-V Interdomain Linker I-IIProb. Benign (2)
607-G Interdomain Linker I-IIProb. Benign (0)
608-D Interdomain Linker I-IIProb. Benign (0)1 SCN1A - Dravet syndrome
610-E Interdomain Linker I-IIProb. Benign (0)
614-P Interdomain Linker I-IINone
615-G Interdomain Linker I-IIArrhythmia (15)1 SCN9A - Febrile seizures
616-S Interdomain Linker I-IIProb. Benign (0)
618-L Interdomain Linker I-IIConflict (10)
619-L Interdomain Linker I-IIArrhythmia (6)
620-R Interdomain Linker I-IIArrhythmia (2)
623-M Interdomain Linker I-IIProb. Benign (0)
624-L Interdomain Linker I-IINone
625-E Interdomain Linker I-IIProb. Benign (0)1 SCN1A - Myoclonic epilepsy of infancy
626-H Interdomain Linker I-IINone1 CACNA1H - Epilepsy, childhood absence
627-P Interdomain Linker I-IIArrhythmia (1)
630-T Interdomain Linker I-IIOther Disease (1)
632-T Interdomain Linker I-IIArrhythmia (2)2 SCN2A - Autism spectrum disorder
633-P Interdomain Linker I-IINone1 SCN8A - Epileptic encephalopathy
634-S Interdomain Linker I-IIProb. Benign (0)
636-E Interdomain Linker I-IIProb. Benign (0)
637-P Interdomain Linker I-IIArrhythmia (1)
638-G Interdomain Linker I-IIProb. Benign (2)
639-G Interdomain Linker I-IIArrhythmia (2)2 SCN9A - Febrile seizures
640-P Interdomain Linker I-IIArrhythmia (1)
642-M Interdomain Linker I-IINone2 SCN10A - Brugada syndrome
647-A Interdomain Linker I-IIArrhythmia (3)
648-P Interdomain Linker I-IIConflict (5)
649-C Interdomain Linker I-IIProb. Benign (0)
651-D Interdomain Linker I-IINone
652-G Interdomain Linker I-IIProb. Benign (0)
654-E Interdomain Linker I-IIArrhythmia (1)
655-E Interdomain Linker I-IIArrhythmia (1)
656-P Interdomain Linker I-IIProb. Benign (2)
658-A Interdomain Linker I-IIProb. Benign (0)
659-R Interdomain Linker I-IIProb. Benign (0)
661-R Interdomain Linker I-IIArrhythmia (3)
662-A Interdomain Linker I-IIOther Cardiac (1)
665-A Interdomain Linker I-IIArrhythmia (1)
668-V Interdomain Linker I-IIProb. Benign (0)2 SCN9A - Dravet syndrome ?
669-L Interdomain Linker I-IINone2 CACNA1C - Brugada syndrome (shorter-than-normal QT interval)
671-S Interdomain Linker I-IIProb. Benign (0)
672-A Interdomain Linker I-IIProb. Benign (3)3 SCN10A - Brugada syndrome
673-L Interdomain Linker I-IIArrhythmia (1)
677-E Interdomain Linker I-IIProb. Benign (0)
678-E Interdomain Linker I-IINone2 CACNA1F - Retinal dystrophy
680-R Interdomain Linker I-IIArrhythmia (5)
681-H Interdomain Linker I-IIArrhythmia (2)
683-C Interdomain Linker I-IIArrhythmia (2)3 CACNA1H - Epilepsy, childhood absence
SCN9A - Dravet syndrome ?
684-P Interdomain Linker I-IINone4 CACNA1A - Episodic ataxia 2
687-W Interdomain Linker I-IINone3 SCN1A - Dravet syndrome
689-R Interdomain Linker I-IIArrhythmia (11)
691-A Interdomain Linker I-IIArrhythmia (1)
692-Q Interdomain Linker I-IIConflict (12)
693-R Interdomain Linker I-IIProb. Benign (0)
697-W Interdomain Linker I-IINone6 CACNA1H - Epilepsy, childhood absence
701-P Interdomain Linker I-IIArrhythmia (4)
703-W Interdomain Linker I-IINone6 SCN1A - Dravet syndrome
704-M Interdomain Linker I-IINone6 SCN9A - Small fibre neuropathy
705-S Interdomain Linker I-IIProb. Benign (2)
707-K Interdomain Linker I-IINone8 CACNA1A - Epilepsy, idiopathic
CACNA1F - Night blindness, congenital stationary, incomplete, Retinitis pigmentosa
708-Q Interdomain Linker I-IINone8 CACNA1H - Epilepsy, childhood absence
709-G Interdomain Linker I-IIArrhythmia (1)
711-K Interdomain Linker I-IINone9 CACNA1C - Long QT syndrome with hypertrophic cardiomyopathy
SCN1A - Dravet syndrome C ?
714-V TM Domain 2Prob. Benign (0)
717-P TM Domain 2Arrhythmia (3)8 SCN1A - Myoclonic epilepsy of infancy
718-F TM Domain 2Prob. Benign (0)
722-T TM Domain 2None9 SCN11A - Painful peripheral neuropathy
723-I TM Domain 2None9 SCN10A - Brugada syndrome
SCN9A - Febrile seizures ?
724-T TM Domain 2Prob. Benign (0)
726-C TM Domain 2None
727-I TM Domain 2None9 SCN4A - Myotonia & periodic paralysis
728-V TM Domain 2Arrhythmia (1)
730-N TM Domain 2Prob. Benign (0)
731-T TM Domain 2Arrhythmia (1)9 CACNA1A - Episodic ataxia 2
SCN8A - Epileptic encephalopathy
732-L TM Domain 2None9 SCN1A - Myoclonic epilepsy of infancy
733-F TM Domain 2Prob. Benign (0)
734-M TM Domain 2None9 SCN1A - Dravet syndrome, Dravet syndrome C ?
735-A TM Domain 2Arrhythmia (7)
737-E TM Domain 2None9 SCN1A - Dravet syndrome
739-Y TM Domain 2None9 SCN1A - Generalized epilepsy with febrile seizures plus, Panayiotopoulos syndrome
740-N TM Domain 2None9 CACNA1C - Brugada syndrome (shorter-than-normal QT interval)
742-T TM Domain 2Prob. Benign (0)9 SCN1A - Dravet syndrome
746-E TM Domain 2Arrhythmia (2)
747-E TM Domain 2Prob. Benign (0)
750-Q TM Domain 2Arrhythmia (1)
751-V TM Domain 2Prob. Benign (0)
752-G TM Domain 2Arrhythmia (7)
754-L TM Domain 2Prob. Benign (0)
755-V TM Domain 2None9 CACNA1H - Epilepsy, childhood absence
757-T TM Domain 2None9 SCN1A - Myoclonic epilepsy of infancy
758-G TM Domain 2Arrhythmia (1)
759-I TM Domain 2Arrhythmia (2)
761-T TM Domain 2None9 SCN1A - Dravet syndrome B ?, Myoclonic epilepsy of infancy
763-E TM Domain 2Prob. Benign (0)9 CACNA1A - Episodic ataxia 2
764-M TM Domain 2Arrhythmia (1)
770-A TM Domain 2None9 CACNA1A - Episodic ataxia
772-D TM Domain 2Arrhythmia (4)9 CACNA1H - Epilepsy, childhood absence
SCN3A - Epilepsy, focal
773-P TM Domain 2Arrhythmia (1)
775-Y TM Domain 2None9 CACNA1C - Long QT syndrome
776-Y TM Domain 2None9 SCN1A - Dravet syndrome
777-F TM Domain 2Other Cardiac (1)
779-Q TM Domain 2Arrhythmia (1)
780-G TM Domain 2None9 SCN2A - Neurodevelopmental disorder
783-I TM Domain 2None9 CACNA1C - Brugada syndrome
CACNA1S - Exertional heat illness, Takotsubo (stress) cardiomyopathy
784-F TM Domain 2Prob. Benign (0)
785-D TM Domain 2Arrhythmia (1)
789-V TM Domain 2Arrhythmia (1)
791-L TM Domain 2None5 CACNA1F - Aland island eye disease & stationary night blindn
SCN1A - Dravet syndrome C ?
792-S TM Domain 2None6 SCN1A - Dravet syndrome
795-E TM Domain 2None5 SCN1A - Dravet syndrome
797-G TM Domain 2Arrhythmia (1)
800-R TM Domain 2Arrhythmia (2)6 CACNA1H - Idiopathic epilepsy, generalised
802-S TM Domain 2None5 SCN1A - Myoclonic epilepsy of infancy
805-S TM Domain 2Prob. Benign (0)
806-V TM Domain 2Prob. Benign (0)9 CACNA1A - Hemiplegic migraine, Hemiplegic migraine, cerebellar dysfunction & cogn
807-L TM Domain 2None9 SCN9A - Erythermalgia, primary
808-R TM Domain 2Arrhythmia (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 2None9 SCN4A - Myotonia, non-dystrophic
SCN8A - Migrating partial seizures of infancy
811-R TM Domain 2Arrhythmia (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 2Arrhythmia (1)9 SCN1A - Dravet syndrome
814-R TM Domain 2Arrhythmia (5)9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
SCN2A - Epilepsy of infancy with migrating focal seizures
SCN4A - Normokalaemic periodic paralysis
SCN8A - Intellectual disability and epilepsy
816-F TM Domain 2Arrhythmia (2)
817-K TM Domain 2Arrhythmia (1)
818-L TM Domain 2None9 CACNA1F - Night blindness, congenital stationary, incomplete
819-A TM Domain 2None9 SCN11A - Painful peripheral neuropathy
821-S TM Domain 2None9 SCN1A - Dravet syndrome
822-W TM Domain 2Arrhythmia (1)
824-T TM Domain 2None9 SCN1A - Dravet syndrome, Generalised epilepsy with febrile seizures plus 2
825-L TM Domain 2None9 SCN1A - Myoclonic epilepsy of infancy
826-N TM Domain 2None9 CACNA1H - Autism spectrum disorder ?
828-L TM Domain 2Arrhythmia (1)9 SCN4A - Hyperkalaemic periodic paralysis
831-I TM Domain 2None9 SCN2A - Epileptic encephalopathy, early infantile with mov
832-I TM Domain 2None9 SCN4A - Myotonia & paralytic episodes, Myotonia, sodium channel, Paramyotonia congenita
SCN9A - Erythermalgia, primary
833-G TM Domain 2Arrhythmia (3)9 CACNA1A - Hemiplegic migraine and chronic headache
SCN1A - Dravet syndrome
834-N TM Domain 2Arrhythmia (1)9 SCN2A - Ohtahara syndrome
835-S TM Domain 2Arrhythmia (1)
836-V TM Domain 2Prob. Benign (0)
837-G TM Domain 2None9 SCN11A - Painful peripheral neuropathy
SCN2A - Epileptic encephalopathy, early infantile
839-L TM Domain 2Arrhythmia (3)9 SCN1A - Dravet syndrome C ?
SCN8A - Lennox-Gastaut syndrome
840-G TM Domain 2Arrhythmia (1)9 SCN9A - Pain, dysautonomia & acromesomelia
841-N TM Domain 2Prob. Benign (0)
842-L TM Domain 2None9 CACNA1A - Paroxysmal head tremor, adult-onset
SCN4A - paramyotonia congenita
SCN9A - Erythermalgia, primary
843-T TM Domain 2Arrhythmia (2)9 SCN4A - Hyperkalaemic periodic paralysis
845-V TM Domain 2None9 SCN1A - Dravet syndrome, Myoclonic epilepsy, borderline
846-L TM Domain 2Other Cardiac (1)9 CACNA1A - Episodic ataxia
SCN1A - Dravet syndrome
847-A TM Domain 2None9 SCN9A - Erythermalgia, primary
848-I TM Domain 2Arrhythmia (1)9 SCN1A - Generalized epilepsy with febrile seizures plus
849-I TM Domain 2Other Cardiac (1)
850-V TM Domain 2None9 SCN2A - Neonatal-infantile seizures
851-F TM Domain 2Arrhythmia (3)9 SCN1A - Myoclonic epilepsy of infancy
854-A TM Domain 2None9 SCN4A - Myotonia
SCN8A - Epileptic encephalopathy
856-V TM Domain 2None9 SCN1A - Focal epilepsy
SCN4A - Myotonia, non-dystrophic
SCN9A - Erythermalgia, primary
857-G TM Domain 2Prob. Benign (0)9 CACNA1F - Night blindness, congenital stationary, incomplete
858-M TM Domain 2Other Disease (1)
859-Q TM Domain 2None9 SCN1A - Dravet syndrome
SCN9A - Erythermalgia, primary
863-K TM Domain 2None9 CACNA1A - Episodic ataxia 2
SCN2A - Epileptic encephalopathy
866-S TM Domain 2Prob. Benign (0)7 SCN10A - Atrial fibrillation & slow ventricular rates
867-E TM Domain 2Arrhythmia (1)
869-R TM Domain 2Prob. Benign (0)
872-D TM Domain 2None
873-S TM Domain 2Prob. Benign (0)
874-G TM Domain 2Prob. Benign (0)4 SCN1A - Dravet syndrome
878-R TM Domain 2Arrhythmia (7)8 SCN1A - Dravet syndrome, Epilepsy ?, Myoclonic epilepsy of infancy
SCN9A - Congenital indifference to pain
879-W TM Domain 2None8 SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy
880-H TM Domain 2None9 SCN1A - Dravet syndrome C ?
881-M TM Domain 2None9 SCN1A - Myoclonic epilepsy of infancy
SCN9A - Congenital indifference to pain
882-M TM Domain 2None9 SCN1A - Generalized epilepsy with febrile seizures plus
883-D TM Domain 2None9 SCN1A - Dravet syndrome
884-F TM Domain 2None9 SCN2A - Epileptic encephalopathy
886-H TM Domain 2Arrhythmia (2)9 CACNA1H - Autism spectrum disorder ?
SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
887-A TM Domain 2None9 SCN1A - Myoclonic epilepsy of infancy
889-L TM Domain 2None9 SCN1A - Myoclonic epilepsy of infancy
890-I TM Domain 2Arrhythmia (1)9 CACNA1S - Malignant hyperthermia
SCN1A - Dravet syndrome
891-I TM Domain 2Prob. Benign (0)9 SCN1A - Myoclonic epilepsy of infancy
892-F TM Domain 2Arrhythmia (2)9 SCN1A - Myoclonic epilepsy of infancy
893-R TM Domain 2Arrhythmia (4)9 SCN10A - Brugada syndrome
SCN1A - Dravet syndrome, Generalized epilepsy of infancy, Myoclonic epilepsy of infancy
SCN2A - Intellectual disability, nonsyndromic
894-I TM Domain 2Prob. Benign (0)
895-L TM Domain 2Prob. Benign (0)9 CACNA1F - Night blindness, congenital stationary 2
896-C TM Domain 2Arrhythmia (1)9 CACNA1A - Hemiplegic migraine and episodic ataxia 2
SCN1A - Dravet syndrome
SCN4A - Myotonia
897-G TM Domain 2Arrhythmia (1)9 SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy
898-E TM Domain 2None9 CACNA1A - Head tremor, Spinocerebellar ataxia 6
899-W TM Domain 2None9 SCN1A - Dravet syndrome, Dravet syndrome B, Myoclonic epilepsy of infancy
901-E TM Domain 2Arrhythmia (2)9 SCN1A - Dravet syndrome C ?
902-T TM Domain 2Prob. Benign (0)
903-M TM Domain 2None9 SCN1A - Dravet syndrome C ?, Febrile seizures plus
904-W TM Domain 2Prob. Benign (0)9 SCN1A - Myoclonic epilepsy of infancy
906-C TM Domain 2None9 CACNA1H - Idiopathic epilepsy, generalised
SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
907-M TM Domain 2None8 SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus ?, Myoclonic epilepsy of infancy
910-S TM Domain 2Arrhythmia (2)
912-Q TM Domain 2Arrhythmia (1)
914-L TM Domain 2None9 SCN9A - Congenital indifference to pain
915-C TM Domain 2Arrhythmia (1)9 SCN1A - Dravet syndrome
917-L TM Domain 2Arrhythmia (1)
918-V TM Domain 2None9 SCN4A - Hyperkalaemic periodic paralysis
919-F TM Domain 2None
920-L TM Domain 2None9 SCN1A - Cryptogenic generalised epilepsy, Dravet syndrome
922-V TM Domain 2None9 SCN8A - Epileptic encephalopathy
923-M TM Domain 2None9 SCN1A - Generalized epilepsy with febrile seizures plus
924-V TM Domain 2Benign (2)9 SCN1A - Dravet syndrome
926-G TM Domain 2None9 SCN1A - Dravet syndrome, Dravet syndrome B ?, Myoclonic epilepsy of infancy
927-N TM Domain 2Arrhythmia (2)9 CACNA1F - Night blindness, congenital stationary 2
928-L TM Domain 2Arrhythmia (1)
929-V TM Domain 2None9 SCN1A - Dravet syndrome
930-V TM Domain 2None9 SCN1A - Myoclonic epilepsy of infancy
932-N TM Domain 2None9 SCN1A - Myoclonic epilepsy of infancy
SCN2A - Epileptic encephalopathy
933-L TM Domain 2None9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
934-F TM Domain 2None9 CACNA1E - Epileptic encephalopathy with infantile spasms
CACNA1F - Night blindness, congenital stationary, incomplete
SCN1A - Myoclonic epilepsy of infancy
935-L TM Domain 2Arrhythmia (1)
936-A TM Domain 2None9 CACNA1D - Autism
SCN11A - Episodic pain syndrome
SCN4A - Episodic laryngospasm, severe neonatal
937-L TM Domain 2None9 CACNA1A - Episodic seizures, ataxia, and migraine with motor
CACNA1D - Primary aldosteronism
CACNA1F - Retinal disorder, X-linked
SCN1A - Dravet syndrome
938-L TM Domain 2None9 CACNA1A - Lennox-Gastaut syndrome
939-L TM Domain 2None9 CACNA1A - Hemiplegic migraine and episodic ataxia 2
SCN11A - Congenital indifference to pain
940-S Interdomain Linker II-IIINone9 CACNA1A - Hemiplegic migraine, progressive cerebellar ataxia
SCN1A - Dravet syndrome B ?
941-S Interdomain Linker II-IIINone9 SCN4A - Paramyotonia congenita
942-F Interdomain Linker II-IIINone9 SCN1A - Dravet syndrome
943-S Interdomain Linker II-IIINone8 SCN2A - Epileptic encephalopathy, early infantile
945-D Interdomain Linker II-IIIProb. Benign (0)5 SCN1A - Dravet syndrome
946-N Interdomain Linker II-IIINone5 SCN8A - Intellectual disability and epilepsy
949-A Interdomain Linker II-IIIProb. Benign (0)
950-P Interdomain Linker II-IIINone
952-E Interdomain Linker II-IIIProb. Benign (0)
953-D Interdomain Linker II-IIIProb. Benign (0)4 SCN1A - Epilepsy ?
955-E Interdomain Linker II-IIINone4 CACNA1C - Cardiomyopathy, hypertrophic
SCN2A - Epileptic encephalopathy, early infantile, Ohtahara syndrome
957-N Interdomain Linker II-IIINone4 SCN2A - Neonatal-infantile seizures
958-N Interdomain Linker II-IIINone4 SCN1A - Myoclonic epilepsy of infancy
959-L Interdomain Linker II-IIIProb. Benign (0)4 CACNA1S - Exertional heat illness
SCN2A - Neonatal-infantile seizures
960-Q Interdomain Linker II-IIIArrhythmia (1)
962-A Interdomain Linker II-IIIProb. Benign (0)
965-R Interdomain Linker II-IIIArrhythmia (11)
966-I Interdomain Linker II-IIIProb. Benign (0)
969-G Interdomain Linker II-IIIProb. Benign (0)2 SCN11A - Painful peripheral neuropathy
971-R Interdomain Linker II-IIIArrhythmia (1)
973-V Interdomain Linker II-IIINone4 SCN9A - Small fibre neuropathy
974-K Interdomain Linker II-IIIArrhythmia (1)
975-R Interdomain Linker II-IIIArrhythmia (4)
978-W Interdomain Linker II-IIINone3 SCN9A - Paroxysmal extreme pain disorder
979-D Interdomain Linker II-IIIProb. Benign (0)
981-C Interdomain Linker II-IIIArrhythmia (1)3 SCN1A - Autism ?
982-C Interdomain Linker II-IIIOther Cardiac (4)
985-L Interdomain Linker II-IIIProb. Benign (0)2 SCN1A - Autism ?
986-R Interdomain Linker II-IIIArrhythmia (3)
987-Q Interdomain Linker II-IIIProb. Benign (0)
988-R Interdomain Linker II-IIIArrhythmia (1)
989-P Interdomain Linker II-IIIProb. Benign (0)
991-K Interdomain Linker II-IIIProb. Benign (0)
993-A Interdomain Linker II-IIIArrhythmia (1)
995-L Interdomain Linker II-IIIProb. Benign (0)
997-A Interdomain Linker II-IIIArrhythmia (5)
998-Q Interdomain Linker II-IIINone2 CACNA1A - Episodic ataxia 2
1000-Q Interdomain Linker II-IIIProb. Benign (0)
1002-P Interdomain Linker II-IIIProb. Benign (0)
1004-C Interdomain Linker II-IIIArrhythmia (2)
1005-I Interdomain Linker II-IIIProb. Benign (0)
1007-T Interdomain Linker II-IIIProb. Benign (0)
1008-P Interdomain Linker II-IIIOther Cardiac (1)
1011-P Interdomain Linker II-IIIOther Cardiac (1)
1015-E Interdomain Linker II-IIIProb. Benign (0)1 SCN4A - hyperkalemic periodic paralysis
1016-T Interdomain Linker II-IIIBenign (2)1 SCN8A - Cerebral palsy
1018-K Interdomain Linker II-IIIProb. Benign (0)2 SCN1A - Dravet syndrome
1021-P Interdomain Linker II-IIIArrhythmia (1)
1023-R Interdomain Linker II-IIIArrhythmia (3)
1027-R Interdomain Linker II-IIIProb. Benign (1)
1032-E Interdomain Linker II-IIIArrhythmia (1)
1033-Q Interdomain Linker II-IIIArrhythmia (1)
1034-P Interdomain Linker II-IIINone1 SCN1A - Intractable epilepsy
1035-G Interdomain Linker II-IIIProb. Benign (0)
1037-G Interdomain Linker II-IIIProb. Benign (0)
1040-G Interdomain Linker II-IIIProb. Benign (2)
1041-D Interdomain Linker II-IIIArrhythmia (1)1 CACNA1G - Myoclonic epilepsy, juvenile
1043-E Interdomain Linker II-IIINone2 CACNA1E - Epileptic encephalopathy with infantile spasms
1044-P Interdomain Linker II-IIIProb. Benign (0)
1045-V Interdomain Linker II-IIIProb. Benign (0)4 CACNA1F - MRX
1049-I Interdomain Linker II-IIINone5 SCN10A - Atrial fibrillation
1050-A Interdomain Linker II-IIIProb. Benign (0)
1051-V Interdomain Linker II-IIIProb. Benign (0)
1053-E Interdomain Linker II-IIIArrhythmia (7)
1055-D Interdomain Linker II-IIIArrhythmia (1)
1059-Q Interdomain Linker II-IIINone2 CACNA1H - Idiopathic epilepsy, generalised
1061-E Interdomain Linker II-IIIProb. Benign (0)
1062-D Interdomain Linker II-IIIProb. Benign (0)
1063-E Interdomain Linker II-IIIProb. Benign (0)
1066-S Interdomain Linker II-IIIProb. Benign (0)
1068-G Interdomain Linker II-IIIProb. Benign (0)
1069-T Interdomain Linker II-IIIArrhythmia (3)
1070-E Interdomain Linker II-IIINone2 SCN2A - Acute encephalitis with refractory, repetitive par
1073-S Interdomain Linker II-IIINone2 CACNA1A - Reduced function
1074-S Interdomain Linker II-IIIArrhythmia (1)
1077-Q Interdomain Linker II-IIIProb. Benign (0)
1079-S Interdomain Linker II-IIIArrhythmia (2)
1082-V Interdomain Linker II-IIIProb. Benign (2)
1083-S Interdomain Linker II-IIIProb. Benign (0)
1084-G Interdomain Linker II-IIIOther Cardiac (2)
1088-A Interdomain Linker II-IIIProb. Benign (0)
1090-P Interdomain Linker II-IIIArrhythmia (11)
1091-D Interdomain Linker II-IIIProb. Benign (0)
1095-W Interdomain Linker II-IIIArrhythmia (1)1 CACNA1C - Long QT syndrome
1096-S Interdomain Linker II-IIINone1 CACNA1C - Long QT syndrome
1098-V Interdomain Linker II-IIIProb. Benign (2)
1100-A Interdomain Linker II-IIIArrhythmia (4)
1103-S Interdomain Linker II-IIIBenign (9)
1105-E Interdomain Linker II-IIIProb. Benign (0)
1106-A Interdomain Linker II-IIIOther Cardiac (1)0 CACNA1A - Epilepsy, idiopathic
1107-E Interdomain Linker II-IIIOther Cardiac (3)
1109-S Interdomain Linker II-IIIProb. Benign (0)
1113-A Interdomain Linker II-IIIArrhythmia (2)
1114-D Interdomain Linker II-IIIArrhythmia (5)
1115-W Interdomain Linker II-IIIProb. Benign (0)
1116-R Interdomain Linker II-IIIBenign (2)
1121-A Interdomain Linker II-IIIProb. Benign (0)
1125-A Interdomain Linker II-IIIProb. Benign (0)
1130-E Interdomain Linker II-IIIProb. Benign (0)
1131-T Interdomain Linker II-IIIArrhythmia (1)
1132-P Interdomain Linker II-IIIProb. Benign (0)
1133-E Interdomain Linker II-IIINone2 SCN10A - Brugada syndrome
1134-D Interdomain Linker II-IIIProb. Benign (0)
1135-S Interdomain Linker II-IIIArrhythmia (1)
1138-E Interdomain Linker II-IIIArrhythmia (1)
1140-S Interdomain Linker II-IIIArrhythmia (2)
1142-A Interdomain Linker II-IIINone
1146-N Interdomain Linker II-IIINone2 SCN9A - Dravet syndrome ?
1147-T Interdomain Linker II-IIIProb. Benign (0)
1148-A Interdomain Linker II-IIIProb. Benign (0)1 SCN4A - Normokalaemic periodic paralysis with involuntary
1150-L Interdomain Linker II-IIINone1 CACNA1C - Long QT, non-syndromic
SCN10A - Sudden unexplained death
1153-Q Interdomain Linker II-IIIProb. Benign (0)
1154-I Interdomain Linker II-IIIProb. Benign (0)
1155-P Interdomain Linker II-IIIProb. Benign (0)1 SCN8A - Hyperinsulinism
1156-D Interdomain Linker II-IIIProb. Benign (0)
1158-G Interdomain Linker II-IIIOther Disease (1)
1159-Q Interdomain Linker II-IIINone1 SCN3A - Epilepsy, focal
1161-V Interdomain Linker II-IIINone1 SCN1A - Hemiplegic migraine
1163-D Interdomain Linker II-IIIArrhythmia (1)
1164-P Interdomain Linker II-IIINone
1165-E Interdomain Linker II-IIIProb. Benign (0)
1166-D Interdomain Linker II-IIIArrhythmia (1)
1167-C Interdomain Linker II-IIINone
1169-T Interdomain Linker II-IIIProb. Benign (0)
1171-G Interdomain Linker II-IIINone2 CACNA1H - Epilepsy, childhood absence
1173-V Interdomain Linker II-IIIProb. Benign (0)
1174-R Interdomain Linker II-IIIProb. Benign (0)1 SCN10A - Brugada syndrome
1175-R Interdomain Linker II-IIIArrhythmia (1)
1177-P Interdomain Linker II-IIIArrhythmia (1)
1180-A Interdomain Linker II-IIINone
1181-V Interdomain Linker II-IIIProb. Benign (0)
1184-T Interdomain Linker II-IIINone4 SCN9A - Dravet syndrome ?
1185-Q Interdomain Linker II-IIINone4 CACNA1F - Cone-rod dystrophy
1186-A Interdomain Linker II-IIIArrhythmia (1)
1187-P Interdomain Linker II-IIIArrhythmia (1)
1190-V Interdomain Linker II-IIIProb. Benign (0)
1191-W Interdomain Linker II-IIINone6 SCN1A - Generalized epilepsy with febrile seizures plus, Generalized epilepsy with febrile seizures plus ?, Myoclonic epilepsy of infancy
1193-R Interdomain Linker II-IIIConflict (27)
1194-L Interdomain Linker II-IIIArrhythmia (1)9 CACNA1F - Night blindness, congenital stationary, incomplete
SCN1A - Myoclonic epilepsy of infancy
1195-R Interdomain Linker II-IIIOther Cardiac (1)9 SCN1A - Dravet syndrome B ?
1197-T Interdomain Linker II-IIINone9 SCN1A - Myoclonic epilepsy of infancy
1199-Y Interdomain Linker II-IIIArrhythmia (1)
1200-H Interdomain Linker II-IIINone9 SCN1A - Intractable epilepsy, Myoclonic epilepsy of infancy
1201-I TM Domain 3Prob. Benign (0)9 SCN1A - Dravet syndrome
1202-V TM Domain 3Prob. Benign (0)
1206-W TM Domain 3Other Cardiac (1)9 CACNA1A - Hemiplegic migraine
1208-E TM Domain 3Arrhythmia (1)9 SCN1A - Dravet syndrome, Dravet syndrome C ?
SCN2A - Neonatal-infantile seizures
1210-F TM Domain 3None
1215-I TM Domain 3Prob. Benign (0)
1217-L TM Domain 3None9 SCN1A - Generalized epilepsy with febrile seizures plus ?
1218-S TM Domain 3Arrhythmia (1)9 SCN1A - Myoclonic epilepsy of infancy
1219-S TM Domain 3Arrhythmia (1)
1220-G TM Domain 3None9 CACNA1S - Takotsubo (stress) cardiomyopathy
SCN1A - Myoclonic epilepsy of infancy
1221-A TM Domain 3Arrhythmia (1)
1223-A TM Domain 3None9 SCN1A - Dravet syndrome
1225-E TM Domain 3Arrhythmia (6)9 SCN1A - Myoclonic epilepsy of infancy
1226-D TM Domain 3None9 SCN1A - Dravet syndrome
1228-Y TM Domain 3Arrhythmia (2)
1230-E TM Domain 3Prob. Benign (0)
1231-E TM Domain 3Arrhythmia (1)
1232-R TM Domain 3Arrhythmia (9)7 SCN1A - Myoclonic epilepsy of infancy
1236-K TM Domain 3Arrhythmia (2)8 SCN1A - Generalized epilepsy with febrile seizures plus
1237-V TM Domain 3None8 SCN1A - Generalized epilepsy with febrile seizures plus
1239-L TM Domain 3Arrhythmia (1)
1240-E TM Domain 3Arrhythmia (3)
1241-Y TM Domain 3Arrhythmia (1)9 SCN1A - Intractable epilepsy
1242-A TM Domain 3None9 SCN1A - Dravet syndrome
1243-D TM Domain 3Arrhythmia (4)9 SCN4A - Myopathy, congenital
1245-M TM Domain 3Prob. Benign (0)
1246-F TM Domain 3None9 SCN1A - Dravet syndrome
1247-T TM Domain 3Prob. Benign (0)9 SCN1A - Dravet syndrome
1249-V TM Domain 3Arrhythmia (1)
1250-F TM Domain 3Arrhythmia (2)9 SCN1A - Myoclonic epilepsy of infancy
1251-V TM Domain 3Prob. Benign (2)
1252-L TM Domain 3None9 SCN1A - Myoclonic epilepsy of infancy
1253-E TM Domain 3Arrhythmia (2)9 SCN1A - Dravet syndrome C ?
1255-L TM Domain 3Prob. Benign (0)
1257-K TM Domain 3None9 SCN1A - Generalized epilepsy with febrile seizures plus
SCN2A - Epileptic encephalopathy, early infantile
1260-A TM Domain 3Prob. Benign (0)9 SCN1A - Dravet syndrome
SCN9A - Congenital indifference to pain
1261-Y TM Domain 3None9 SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus
1262-G TM Domain 3Arrhythmia (3)9 CACNA1E - Autism
CACNA1F - Night blindness, congenital stationary 2
SCN1A - Dravet syndrome, Epileptic encephalopathy
1263-F TM Domain 3None8 CACNA1F - Night blindness, congenital stationary, incomplete
1264-K TM Domain 3Prob. Benign (0)
1269-N TM Domain 3Arrhythmia (1)9 CACNA1F - Congenital stationary night blindness
1271-W TM Domain 3Arrhythmia (2)9 SCN1A - Dravet syndrome
1272-C TM Domain 3None9 CACNA1F - Congenital stationary night blindness
1273-W TM Domain 3Prob. Benign (0)
1274-L TM Domain 3None9 SCN1A - Dravet syndrome
1275-D TM Domain 3Arrhythmia (15)9 CACNA1F - Night blindness, congenital stationary, incomplete
SCN1A - Dravet syndrome C ?
1278-I TM Domain 3Arrhythmia (1)9 SCN10A - Brugada syndrome
1279-V TM Domain 3None9 CACNA1S - Hypokalaemic periodic paralysis
SCN2A - Schizophrenia
1281-V TM Domain 3Arrhythmia (2)
1283-L TM Domain 3Arrhythmia (1)
1285-S TM Domain 3Other Cardiac (1)
1287-V TM Domain 3None7 SCN1A - Dravet syndrome
1288-A TM Domain 3Arrhythmia (1)
1291-L TM Domain 3None7 SCN9A - Dravet syndrome ?
1292-G TM Domain 3None7 CACNA1A - Hemiplegic migraine
1293-F TM Domain 3Conflict (8)
1294-A TM Domain 3Prob. Benign (0)
1295-E TM Domain 3Arrhythmia (1)8 CACNA1A - Cerebellar ataxia
SCN1A - Febrile seizures
1296-M TM Domain 3Prob. Benign (0)9 SCN1A - Generalized epilepsy with febrile seizures plus
1298-P TM Domain 3Other Cardiac (4)
1300-K TM Domain 3None9 SCN1A - Dravet syndrome
SCN4A - Normokalaemic periodic paralysis with involuntary
1303-R TM Domain 3Prob. Benign (0)9 CACNA1A - Hemiplegic migraine, progressive cerebellar ataxia
CACNA1S - Hypokalaemic periodic paralysis
SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
SCN4A - Periodic paralysis
1304-T TM Domain 3Arrhythmia (15)
1305-L TM Domain 3None9 SCN1A - Myoclonic epilepsy of infancy
1306-R TM Domain 3Prob. Benign (0)9 CACNA1A - Ataxia, mental retardation and dyskinesia
CACNA1S - Hypokalaemic periodic paralysis
SCN4A - Hypokalaemic periodic paralysis
1307-A TM Domain 3None9 CACNA1A - Paroxysmal tonic upward gaze
SCN1A - Dravet syndrome B ?
1308-L TM Domain 3Conflict (8)
1309-R TM Domain 3Other Cardiac (1)9 SCN1A - Dravet syndrome
SCN2A - Neonatal-infantile seizures
SCN4A - Hyperkalaemic periodic paralysis, Hypokalaemic periodic paralysis
1310-P TM Domain 3None9 CACNA1A - Hypotonia and developmental delay
SCN1A - Dravet syndrome
1311-L TM Domain 3Arrhythmia (1)
1312-R TM Domain 3None9 SCN1A - Intractable epilepsy
1313-A TM Domain 3None9 SCN1A - Dravet syndrome, Epilepsy-aphasia, Myoclonic epilepsy of infancy
1314-L TM Domain 3None9 SCN11A - Painful peripheral neuropathy
1315-S TM Domain 3None9 SCN1A - Dravet syndrome
1316-R TM Domain 3Other Cardiac (1)9 CACNA1A - Episodic ataxia 2
SCN2A - Neonatal-infantile seizures
1317-F TM Domain 3Prob. Benign (0)
1318-E TM Domain 3None9 SCN2A - Seizures, benign infantile
1319-G TM Domain 3Arrhythmia (6)
1320-M TM Domain 3Prob. Benign (0)9 SCN1A - Generalized epilepsy with febrile seizures plus
SCN2A - Ohtahara syndrome
1321-R TM Domain 3None9 SCN10A - Brugada syndrome
1322-V TM Domain 3None9 SCN1A - Myoclonic epilepsy of infancy
SCN8A - Epileptic encephalopathy, infantile
SCN9A - Paroxysmal extreme pain disorder
1323-V TM Domain 3Arrhythmia (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 3None9 CACNA1A - Nystagmus and late-onset ataxia
1325-N TM Domain 3Arrhythmia (9)9 SCN1A - Dravet syndrome
1326-A TM Domain 3Arrhythmia (1)9 CACNA1A - Hemiplegic migraine
SCN1A - Myoclonic epilepsy of infancy
SCN4A - Paramyotonia congenita
1327-L TM Domain 3None9 SCN2A - Neonatal-infantile seizures
1329-G TM Domain 3Arrhythmia (2)
1330-A TM Domain 3Arrhythmia (3)9 CACNA1A - Encephalopathy, epileptic
SCN4A - Paramyotonia congenita
SCN8A - Epileptic encephalopathy, infantile
1331-I TM Domain 3Prob. Benign (0)9 SCN1A - Myoclonic epilepsy of infancy
1332-P TM Domain 3Arrhythmia (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 3Arrhythmia (2)9 SCN2A - Ohtahara syndrome
1334-I TM Domain 3Arrhythmia (1)9 SCN4A - Hyperkalaemic periodic paralysis
SCN8A - Epileptic encephalopathy, multiple congenital anom
1335-M TM Domain 3Prob. Benign (0)9 SCN1A - Dravet syndrome
SCN2A - Ohtahara syndrome
1337-V TM Domain 3None9 SCN1A - Dravet syndrome C ?
1338-L TM Domain 3Arrhythmia (1)9 SCN2A - Autism spectrum disorder
SCN8A - Epileptic encephalopathy
1339-L TM Domain 3None9 SCN1A - Dravet syndrome
SCN2A - Epileptic encephalopathy
1340-V TM Domain 3Arrhythmia (3)9 SCN11A - Cold-aggravated peripheral pain
SCN1A - Generalized epilepsy with febrile seizures plus
SCN9A - Erythermalgia, primary
1341-C TM Domain 3None9 CACNA1A - Hemiplegic migraine, coma, cerebellar atrophy
SCN1A - Dravet syndrome
1342-L TM Domain 3None9 SCN1A - Myoclonic epilepsy of infancy
1344-F TM Domain 3Arrhythmia (2)9 SCN1A - Intractable epilepsy
1345-W TM Domain 3Arrhythmia (1)9 SCN1A - Dravet syndrome C, Dravet syndrome C ?, Myoclonic epilepsy of infancy
1346-L TM Domain 3Arrhythmia (2)
1349-S TM Domain 3None9 CACNA1F - Cone-rod dystrophy
SCN1A - Dravet syndrome
1350-I TM Domain 3Arrhythmia (1)9 SCN1A - Dravet syndrome
1351-M TM Domain 3Arrhythmia (1)
1352-G TM Domain 3None9 CACNA1F - Night blindness, congenital stationary, incomplete
SCN10A - Brugada syndrome
1353-V TM Domain 3Arrhythmia (2)9 SCN1A - Generalized epilepsy with febrile seizures plus
1354-N TM Domain 3None9 SCN1A - Dravet syndrome
SCN4A - Myotonia, neonatal-onset
1357-A TM Domain 3Arrhythmia (2)9 SCN10A - Peripheral neuropathy, painful
SCN1A - Dravet syndrome B ?
1358-G TM Domain 3Arrhythmia (1)9 SCN1A - Dravet syndrome
1359-K TM Domain 3Arrhythmia (1)9 SCN1A - Generalized epilepsy with febrile seizures plus
1360-F TM Domain 3Arrhythmia (2)9 CACNA1A - Episodic ataxia 2
1362-R TM Domain 3Prob. Benign (0)
1363-C TM Domain 3Arrhythmia (2)9 SCN1A - Intractable epilepsy
1364-I TM Domain 3Prob. Benign (0)
1365-N TM Domain 3Arrhythmia (1)9 SCN1A - Dravet syndrome C ?
1366-Q TM Domain 3Prob. Benign (0)
1367-T TM Domain 3None8 CACNA1H - Epilepsy, childhood absence
1369-G TM Domain 3None6 SCN1A - Generalized epilepsy with febrile seizures plus
1370-D TM Domain 3Prob. Benign (0)
1371-L TM Domain 3None6 SCN3A - Epilepsy, focal
1373-L TM Domain 3None4 SCN1A - Myoclonic epilepsy of infancy
1375-Y TM Domain 3Prob. Benign (0)
1377-I TM Domain 3Prob. Benign (0)
1378-V TM Domain 3Arrhythmia (1)4 SCN1A - Generalised epilepsy with febrile seizures plus 2, Myoclonic epilepsy of infancy
1379-N TM Domain 3None5 SCN1A - Dravet syndrome
1380-N TM Domain 3Arrhythmia (2)4 SCN10A - Brugada syndrome
1381-K TM Domain 3None4 CACNA1I - Schizophrenia
SCN1A - Myoclonic epilepsy of infancy
1382-S TM Domain 3Arrhythmia (3)4 SCN1A - Dravet syndrome C ?
1383-Q TM Domain 3None4 CACNA1S - Schizophrenia
SCN1A - Myoclonic epilepsy of infancy
1384-C TM Domain 3None5 SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy
SCN4A - Myopathy, congenital
1387-L TM Domain 3Prob. Benign (0)
1389-L TM Domain 3None3 SCN10A - Brugada syndrome
1391-G TM Domain 3Prob. Benign (0)
1392-E TM Domain 3None3 SCN1A - Myoclonic epilepsy of infancy
1393-L TM Domain 3None7 CACNA1F - Night blindness, congenital stationary, incomplete
SCN1A - Dravet syndrome
1395-W TM Domain 3None9 CACNA1A - Epileptic encephalopathy, early onset with progres
1401-N TM Domain 3None9 SCN1A - Generalized epilepsy with febrile seizures plus ?, Myoclonic epilepsy of infancy
1402-F TM Domain 3None9 SCN1A - Myoclonic epilepsy of infancy
1403-D TM Domain 3None9 SCN1A - Dravet syndrome
1404-N TM Domain 3None9 SCN1A - Dravet syndrome C ?
1405-V TM Domain 3Arrhythmia (3)9 SCN1A - Myoclonic epilepsy of infancy
1406-G TM Domain 3Arrhythmia (4)
1408-G TM Domain 3Arrhythmia (5)
1409-Y TM Domain 3Arrhythmia (2)9 SCN1A - Myoclonic epilepsy of infancy
1410-L TM Domain 3None9 SCN1A - Dravet syndrome C ?
1412-L TM Domain 3Arrhythmia (2)9 CACNA1F - Night blindness, congenital stationary, incomplete
1413-L TM Domain 3None9 SCN1A - Myoclonic epilepsy of infancy
1414-Q TM Domain 3None9 CACNA1S - Malignant hyperthermia
SCN1A - Myoclonic epilepsy of infancy
1415-V TM Domain 3None9 CACNA1A - Hemiplegic migraine
SCN1A - Febrile seizures
1416-A TM Domain 3Arrhythmia (1)9 SCN1A - Developmental disorder and intellectual disability, Intractable epilepsy
1417-T TM Domain 3None9 SCN2A - Autism spectrum disorder
1418-F TM Domain 3None9 SCN1A - Dravet syndrome
1419-K TM Domain 3Arrhythmia (2)9 CACNA1C - Brugada syndrome (shorter-than-normal QT interval)
SCN1A - Dravet syndrome
SCN2A - Spasms, infantile, and bitemporal glucose hypometa
1420-G TM Domain 3Arrhythmia (3)9 SCN1A - Dravet syndrome, Dravet syndrome C ?, Myoclonic epilepsy of infancy
1421-W TM Domain 3None9 SCN1A - Myoclonic epilepsy of infancy
1423-D TM Domain 3Prob. Benign (0)
1424-I TM Domain 3Prob. Benign (0)9 SCN1A - Dravet syndrome
1427-A TM Domain 3Arrhythmia (2)9 SCN1A - Autism spectrum disorder, Dravet syndrome
1428-A TM Domain 3Arrhythmia (6)9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
1430-D TM Domain 3Other Cardiac (1)
1432-R TM Domain 3Arrhythmia (5)9 SCN10A - Brugada syndrome
1433-G TM Domain 3Arrhythmia (2)
1437-Q TM Domain 3None9 SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus, Myoclonic epilepsy of infancy
1438-P TM Domain 3Arrhythmia (3)9 SCN1A - Dravet syndrome, Dravet syndrome C ?, Myoclonic epilepsy of infancy
1439-Q TM Domain 3Prob. Benign (0)
1440-W TM Domain 3None9 SCN1A - Dravet syndrome, Myoclonic epilepsy, borderline
1441-E TM Domain 3Arrhythmia (2)9 CACNA1A - Episodic ataxia 2
SCN1A - Dravet syndrome C ?
1442-Y TM Domain 3Prob. Benign (0)
1443-N TM Domain 3Arrhythmia (1)9 CACNA1C - Autism spectrum disorder
1445-Y TM Domain 3Prob. Benign (0)
1446-M TM Domain 3None
1448-I TM Domain 3Arrhythmia (5)9 SCN1A - Myoclonic epilepsy of infancy
1449-Y TM Domain 3Arrhythmia (4)9 CACNA1A - Episodic ataxia 2
SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy
1450-F TM Domain 3None9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
1451-V TM Domain 3Arrhythmia (1)
1452-I TM Domain 3None9 CACNA1A - Episodic ataxia 2
1457-G TM Domain 3None9 SCN1A - Myoclonic epilepsy of infancy
SCN8A - Intellectual disability and epilepsy
1458-S TM Domain 3Arrhythmia (2)9 SCN10A - Brugada syndrome
SCN1A - Dravet syndrome
1459-F TM Domain 3None9 SCN1A - Myoclonic epilepsy, borderline
1462-L TM Domain 3None9 SCN1A - Myoclonic epilepsy of infancy
1463-N TM Domain 3Arrhythmia (2)9 SCN1A - Dravet syndrome B ?
1464-L TM Domain 3None9 CACNA1H - Aldosteronism, primary
SCN11A - Congenital indifference to pain
1465-F TM Domain 3None9 CACNA1A - Hemiplegic migraine
1466-I TM Domain 3None
1467-G TM Domain 3None9 CACNA1A - Epileptic encephalopathy, early onset
SCN1A - Myoclonic-astatic epilepsy
SCN2A - Autism spectrum disorder
SCN4A - Myotonia, non-dystrophic
1468-V TM Domain 3Arrhythmia (2)9 SCN4A - Paramyotonia congenita
1469-I TM Domain 3None
1470-I TM Domain 3None9 CACNA1C - Long QT, non-syndromic, Timothy syndrome
SCN1A - Epilepsy ?
SCN2A - Neonatal-infantile seizures
1471-D Interdomain Linker III-IVProb. Benign (0)9 SCN1A - Dravet syndrome
1472-N Interdomain Linker III-IVArrhythmia (1)9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
SCN4A - Myotonia, non-dystrophic
SCN8A - Epileptic encephalopathy, infantile
1473-F Interdomain Linker III-IVArrhythmia (4)9 SCN9A - Erythermalgia, primary
1475-Q Interdomain Linker III-IVNone
1476-Q Interdomain Linker III-IVArrhythmia (1)7 SCN1A - Hemiplegic migraine, Hemiplegic migraine 2
SCN2A - Epileptic encephalopathy, early infantile
1477-K Interdomain Linker III-IVArrhythmia (1)
1478-K Interdomain Linker III-IVNone5 CACNA1F - Night blindness, congenital stationary, incomplete
1481-G Interdomain Linker III-IVArrhythmia (2)4 SCN4A - Myotonia, Paramyotonia congenita
1483-Q Interdomain Linker III-IVProb. Benign (0)
1485-I Interdomain Linker III-IVArrhythmia (1)5 SCN1A - Hemiplegic migraine
SCN8A - Epileptic encephalopathy
SCN9A - Paroxysmal extreme pain disorder
1486-F Interdomain Linker III-IVOther Cardiac (3)6 SCN1A - Hemiplegic migraine 2
SCN9A - Paroxysmal extreme pain disorder
1487-M Interdomain Linker III-IVArrhythmia (1)5 SCN1A - Hemiplegic migraine 3
1488-T Interdomain Linker III-IVArrhythmia (1)5 SCN4A - Hyperkalaemic periodic paralysis, Paramyotonia congenita
SCN9A - Paroxysmal extreme pain disorder
1489-E Interdomain Linker III-IVArrhythmia (1)5 SCN8A - Infantile seizures, benign and paroxysmal dyskines
1490-E Interdomain Linker III-IVNone3 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
1493-K Interdomain Linker III-IVArrhythmia (2)
1494-Y Interdomain Linker III-IVArrhythmia (1)
1495-Y Interdomain Linker III-IVArrhythmia (1)3 CACNA1S - Hypokalaemic periodic paralysis, Malignant hyperthermia
1497-A Interdomain Linker III-IVNone3 CACNA1A - Hemiplegic migraine
SCN1A - Lennox-Gastaut syndrome
1498-M Interdomain Linker III-IVArrhythmia (3)3 SCN1A - Intractable epilepsy
1500-K Interdomain Linker III-IVArrhythmia (2)
1501-L Interdomain Linker III-IVArrhythmia (6)2 SCN1A - Dravet syndrome
1502-G Interdomain Linker III-IVArrhythmia (2)2 SCN1A - Lenox–Gastaut syndrome
1503-S Interdomain Linker III-IVArrhythmia (1)3 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
1505-K Interdomain Linker III-IVArrhythmia (1)
1506-P Interdomain Linker III-IVArrhythmia (2)4 SCN1A - Dravet syndrome
1509-P Interdomain Linker III-IVProb. Benign (0)
1510-I Interdomain Linker III-IVNone5 SCN1A - Dravet syndrome
1512-R Interdomain Linker III-IVArrhythmia (7)5 SCN4A - Myotonia, sodium channel
1515-N Interdomain Linker III-IVProb. Benign (0)
1517-Y Interdomain Linker III-IVNone6 CACNA1H - Idiopathic epilepsy, generalised
1519-G Interdomain Linker III-IVNone9 SCN2A - Epileptic encephalopathy
1520-F Interdomain Linker III-IVNone
1521-I Interdomain Linker III-IVArrhythmia (1)
1522-F Interdomain Linker III-IVArrhythmia (1)
1523-D Interdomain Linker III-IVProb. Benign (0)
1524-I TM Domain 4Prob. Benign (0)
1525-V TM Domain 4Arrhythmia (3)9 SCN1A - Dravet syndrome
1526-T TM Domain 4None9 SCN1A - Dravet syndrome
1527-K TM Domain 4Arrhythmia (1)
1528-Q TM Domain 4None9 SCN2A - Seizures, benign infantile
1529-A TM Domain 4Prob. Benign (0)
1530-F TM Domain 4None9 SCN1A - Cryptogenic focal epilepsy
1531-D TM Domain 4None9 SCN1A - Dravet syndrome, Dravet syndrome C ?
1532-V TM Domain 4Arrhythmia (4)9 SCN1A - Myoclonic epilepsy of infancy
1535-M TM Domain 4None9 SCN4A - Hyperkalaemic periodic paralysis
1538-I TM Domain 4None9 SCN4A - Paramyotonia congenita
1539-C TM Domain 4Prob. Benign (0)9 SCN1A - Dravet syndrome
1542-M TM Domain 4None9 SCN1A - Myoclonic epilepsy of infancy
1543-V TM Domain 4Prob. Benign (1)
1544-T TM Domain 4Arrhythmia (1)
1545-M TM Domain 4None9 SCN4A - Hyperkalaemic periodic paralysis
1548-E TM Domain 4Arrhythmia (2)9 SCN1A - Dravet syndrome
1551-D TM Domain 4Prob. Benign (0)
1553-S TM Domain 4Arrhythmia (1)
1555-E TM Domain 4Prob. Benign (0)
1556-K TM Domain 4None9 SCN9A - Small fibre neuropathy
1557-I TM Domain 4Prob. Benign (0)
1559-I TM Domain 4Prob. Benign (0)
1560-L TM Domain 4Arrhythmia (1)9 SCN2A - Neonatal-infantile seizures
1562-K TM Domain 4None9 SCN1A - Rasmussen encephalitis
SCN9A - Chronic non-paroxysmal neuropathic pain
1563-I TM Domain 4None9 SCN1A - Phenotype modifier
1566-L TM Domain 4None9 SCN1A - Dravet syndrome
1567-F TM Domain 4Prob. Benign (0)
1568-V TM Domain 4None9 SCN4A - Paramyotonia congenita
1569-A TM Domain 4Arrhythmia (1)
1570-I TM Domain 4None9 CACNA1F - Night blindness, congenital stationary, incomplete
1571-F TM Domain 4Arrhythmia (1)
1573-G TM Domain 4None9 SCN1A - Dravet syndrome
1574-E TM Domain 4Arrhythmia (3)
1575-C TM Domain 4None9 SCN10A - Atrial fibrillation
SCN1A - Myoclonic epilepsy of infancy
1576-I TM Domain 4None9 SCN1A - Dravet syndrome
1578-K TM Domain 4Other Cardiac (1)
1579-L TM Domain 4None9 SCN1A - Dravet syndrome B ?, Dravet syndrome C ?
1582-L TM Domain 4Arrhythmia (2)
1583-R TM Domain 4Arrhythmia (4)9 SCN1A - Cryptogenic focal epilepsy, Dravet syndrome, Generalized epilepsy with febrile seizures plus ?
1584-H TM Domain 4None8 SCN1A - Generalized epilepsy with febrile seizures plus
1585-Y TM Domain 4Prob. Benign (0)9 CACNA1H - Epilepsy with auditory features
1586-Y TM Domain 4None9 SCN2A - Neonatal-infantile seizures, benign familial
1590-S TM Domain 4None9 SCN2A - Epilepsy of infancy with migrating focal seizures
1592-N TM Domain 4None9 SCN1A - Dravet syndrome B ?
1593-I TM Domain 4Arrhythmia (1)9 SCN2A - Neonatal-infantile seizures ?
1594-F TM Domain 4Arrhythmia (1)9 SCN4A - hyperkalemic periodic paralysis
1595-D TM Domain 4Other Cardiac (3)9 SCN1A - Myoclonic epilepsy of infancy
SCN2A - Intellectual disability, developmental delay, seiz
1596-F TM Domain 4Arrhythmia (6)
1597-V TM Domain 4Arrhythmia (2)
1598-V TM Domain 4Prob. Benign (0)9 SCN1A - Myoclonic epilepsy of infancy
SCN8A - Epileptic encephalopathy
1599-V TM Domain 4None9 CACNA1H - Amyotrophic lateral sclerosis
SCN1A - Dravet syndrome
1602-S TM Domain 4None9 CACNA1F - Night blindness, congenital stationary, incomplete
SCN8A - Intellectual disability and epilepsy
1603-I TM Domain 4None9 SCN1A - Generalized epilepsy with febrile seizures plus
1604-V TM Domain 4Arrhythmia (1)
1605-G TM Domain 4Prob. Benign (0)
1606-T TM Domain 4Prob. Benign (0)9 SCN1A - Intractable epilepsy
1608-L TM Domain 4None9 SCN4A - Hyperkalaemic periodic paralysis
1609-S TM Domain 4Arrhythmia (2)9 SCN4A - Myotonia, non-dystrophic
1610-D TM Domain 4Prob. Benign (0)
1611-I TM Domain 4None9 SCN1A - Hemiplegic migraine
SCN4A - Paramyotonia congenita
SCN8A - Epileptic encephalopathy
1612-I TM Domain 4Prob. Benign (0)
1613-Q TM Domain 4Arrhythmia (1)
1616-F TM Domain 4Other Cardiac (1)
1617-F TM Domain 4None5 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy, Myoclonic epilepsy, borderline
SCN4A - Congenital myasthenic syndrome ?
1619-P TM Domain 4Prob. Benign (0)6 SCN1A - Myoclonic epilepsy of infancy
1620-T TM Domain 4Arrhythmia (10)7 SCN2A - Ohtahara syndrome
1623-R TM Domain 4Arrhythmia (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 4None6 SCN1A - Hepatic coma
1625-I TM Domain 4None6 SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy
1626-R TM Domain 4Arrhythmia (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 4None6 SCN8A - Intellectual disability and epilepsy
1629-R TM Domain 4Arrhythmia (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 4Arrhythmia (1)7 SCN2A - Ohtahara syndrome
SCN4A - Paramyotonia congenita, von Eulenburg
SCN9A - Paroxysmal extreme pain disorder
1632-R TM Domain 4Arrhythmia (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 4None7 SCN4A - Paramyotonia congenita
1635-R TM Domain 4None9 CACNA1A - Hemiplegic migraine
SCN1A - Generalised epilepsy with febrile seizures plus 2, Myoclonic epilepsy of infancy
SCN4A - Myotonia
1636-L TM Domain 4None9 SCN1A - Hemiplegic migraine
SCN4A - Myotonia
SCN9A - Paroxysmal extreme pain disorder
1638-R TM Domain 4Prob. Benign (0)9 SCN10A - Atrial fibrillation
SCN2A - Seizures, benign infantile
1639-G TM Domain 4Prob. Benign (0)
1640-A TM Domain 4None9 SCN1A - Dravet syndrome B ?
1642-G TM Domain 4Arrhythmia (1)
1643-I TM Domain 4None9 SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus
1644-R TM Domain 4Arrhythmia (10)9 CACNA1A - Episodic ataxia 2
SCN1A - Cryptogenic focal epilepsy, Generalized epilepsy with febrile seizures plus
1645-T TM Domain 4Arrhythmia (1)9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
1646-L TM Domain 4Arrhythmia (1)
1647-L TM Domain 4None9 CACNA1A - Hemiplegic migraine
SCN1A - Dravet syndrome C ?
SCN2A - Epileptic encephalopathy, early infantile
1648-F TM Domain 4None9 CACNA1A - Hemiplegic migraine with cerebellar signs
SCN1A - Hemiplegic migraine, Myoclonic epilepsy of infancy
SCN4A - Paramyotonia congenita
1649-A TM Domain 4Arrhythmia (2)9 SCN1A - Myoclonic epilepsy, borderline
1650-L TM Domain 4Arrhythmia (2)
1651-M TM Domain 4None9 SCN1A - Dravet syndrome
SCN4A - Myotonia, Paramyotonia congenita
SCN8A - Partial seizures with intellectual / developmental
SCN9A - Paroxysmal extreme pain disorder
1652-M TM Domain 4Arrhythmia (2)
1653-S TM Domain 4None9 SCN1A - Dravet syndrome
1654-L TM Domain 4None9 SCN1A - Dravet syndrome C ?
1655-P TM Domain 4None9 CACNA1S - Myopathy
SCN1A - Dravet syndrome, Dravet syndrome B ?, Myoclonic epilepsy of infancy
1656-A TM Domain 4None9 SCN1A - Partial seizures of infancy, malignant migrating
SCN4A - Myotonia
SCN8A - Epileptic encephalopathy, infantile
SCN9A - Erythromelalgia, Paroxysmal extreme pain disorder / Erythermalgia,
1657-L TM Domain 4None9 SCN2A - Encephalopathy, recurrent
1659-N TM Domain 4Prob. Benign (0)9 SCN1A - Dravet syndrome, Dravet syndrome C ?
1660-I TM Domain 4Arrhythmia (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 4Arrhythmia (3)9 SCN1A - Acute encephalopathy with biphasic seizures & late, Myoclonic epilepsy of infancy
1662-L TM Domain 4None9 SCN1A - Dravet syndrome
1664-L TM Domain 4None9 SCN1A - Dravet syndrome
1667-V TM Domain 4Arrhythmia (3)
1668-M TM Domain 4Prob. Benign (0)
1670-I TM Domain 4None9 SCN1A - Dravet syndrome C ?, Epilepsy ?
SCN4A - Hyperkalaemic periodic paralysis
1671-Y TM Domain 4None9 SCN1A - Dravet syndrome B, Dravet syndrome C ?, Intractable epilepsy
1672-S TM Domain 4Arrhythmia (2)9 SCN1A - Febrile seizures, Myoclonic epilepsy of infancy
1674-F TM Domain 4None9 CACNA1A - Hemiplegic migraine
SCN1A - Myoclonic epilepsy of infancy
1675-G TM Domain 4None9 SCN1A - Dravet syndrome, Dravet syndrome C ?
1676-M TM Domain 4Prob. Benign (0)
1678-N TM Domain 4Prob. Benign (0)
1679-F TM Domain 4None9 SCN1A - Myoclonic epilepsy of infancy
1680-A TM Domain 4Arrhythmia (4)9 CACNA1F - Night blindness, congenital stationary, incomplete
1681-Y TM Domain 4Prob. Benign (0)9 SCN1A - Myoclonic epilepsy of infancy
1685-E TM Domain 4Other Cardiac (2)6 CACNA1A - Hemiplgic migraine ?
1689-D TM Domain 4Prob. Benign (0)9 SCN10A - Painful small fibre neuropathy with gastroparesis
SCN1A - Dravet syndrome
1690-D TM Domain 4Arrhythmia (2)9 SCN1A - Dravet syndrome
1691-M TM Domain 4None9 CACNA1A - Episodic ataxia 2
1692-F TM Domain 4None
1694-F TM Domain 4None9 SCN1A - Myoclonic epilepsy of infancy
1696-T TM Domain 4None9 SCN1A - Myoclonic epilepsy of infancy
1698-A TM Domain 4Arrhythmia (1)
1700-S TM Domain 4None9 SCN1A - Myoclonic epilepsy of infancy
1701-M TM Domain 4Prob. Benign (0)9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
1703-C TM Domain 4None9 CACNA1F - Night blindness, congenital stationary, incomplete
SCN1A - Myoclonic epilepsy of infancy
1704-L TM Domain 4None9 CACNA1A - Episodic ataxia 2
SCN1A - Dravet syndrome
1705-F TM Domain 4Other Cardiac (1)
1706-Q TM Domain 4Arrhythmia (1)9 CACNA1A - Episodic ataxia 2
1708-T TM Domain 4Arrhythmia (1)9 SCN1A - Myoclonic epilepsy of infancy
1709-T TM Domain 4Arrhythmia (3)9 SCN1A - Dravet syndrome
1710-S TM Domain 4Arrhythmia (4)9 CACNA1A - Epilepsy with typical absence seizures
1711-A TM Domain 4None9 CACNA1A - Episodic ataxia 2
SCN1A - Intractable epilepsy
1712-G TM Domain 4Arrhythmia (2)9 SCN10A - Small fibre neuropathy
SCN1A - Dravet syndrome
SCN4A - Essential tremor
1713-W TM Domain 4None9 SCN1A - Myoclonic epilepsy of infancy
1714-D TM Domain 4Arrhythmia (3)9 SCN1A - Myoclonic epilepsy of infancy
1715-G TM Domain 4None9 CACNA1F - Usher syndrome ?
1717-L TM Domain 4Arrhythmia (1)
1718-S TM Domain 4Prob. Benign (0)
1719-P TM Domain 4None9 SCN1A - Dravet syndrome
1722-N TM Domain 4Arrhythmia (2)
1723-T TM Domain 4Arrhythmia (1)
1725-P TM Domain 4Arrhythmia (1)
1726-P TM Domain 4None6 SCN1A - Generalized epilepsy with febrile seizures plus ?
1728-C TM Domain 4Arrhythmia (2)9 SCN1A - Dravet syndrome, Lennox-Gastaut syndrome, Myoclonic epilepsy of infancy
1729-D TM Domain 4Prob. Benign (0)8 SCN1A - Dravet syndrome, late-onset, Generalized epilepsy with febrile seizures plus
1730-P TM Domain 4Prob. Benign (0)
1731-T TM Domain 4None7 SCN1A - Generalized epilepsy with febrile seizures plus
1737-G TM Domain 4Prob. Benign (0)
1738-S TM Domain 4Prob. Benign (0)3 SCN4A - Seizures
1739-R TM Domain 4Arrhythmia (2)
1740-G TM Domain 4Arrhythmia (5)3 SCN1A - Dravet syndrome
SCN2A - Autism spectrum disorder
1741-D TM Domain 4Prob. Benign (0)3 SCN1A - Dravet syndrome
1742-C TM Domain 4None5 SCN1A - Myoclonic epilepsy of infancy
SCN9A - Congenital indifference to pain
1743-G TM Domain 4Arrhythmia (9)5 SCN1A - Dravet syndrome
1744-S TM Domain 4None5 CACNA1S - Malignant hyperthermia
1746-A TM Domain 4Arrhythmia (1)
1747-V TM Domain 4Arrhythmia (1)9 SCN10A - Brugada syndrome
1748-G TM Domain 4Arrhythmia (1)9 SCN1A - Febrile seizures ?, Myoclonic epilepsy of infancy
1749-I TM Domain 4None9 SCN1A - Dravet syndrome C ?
1750-L TM Domain 4Prob. Benign (0)
1751-F TM Domain 4None9 CACNA1F - Night blindness, congenital stationary, incomplete
SCN1A - Partial epilepsy with febrile seizures plus
1754-T TM Domain 4None
1755-Y TM Domain 4None9 SCN1A - Generalized epilepsy with febrile seizures plus
1756-I TM Domain 4None9 SCN10A - Small fibre neuropathy
SCN1A - Dravet syndrome B ?, Epilepsy ?
1757-I TM Domain 4None9 SCN1A - Cryptogenic focal epilepsy, Dravet syndrome
1758-I TM Domain 4Arrhythmia (1)
1759-S TM Domain 4Prob. Benign (0)9 SCN1A - Myoclonic epilepsy of infancy
1760-F TM Domain 4None9 CACNA1A - Episodic ataxia 2
SCN8A - Epileptic encephalopathy, infantile
1761-L TM Domain 4Arrhythmia (2)
1763-V TM Domain 4Arrhythmia (5)9 SCN4A - Myotonia
SCN9A - Paroxysmal extreme pain disorder
1764-V TM Domain 4Arrhythmia (2)
1765-N TM Domain 4None9 SCN10A - Brugada syndrome
1766-M TM Domain 4Arrhythmia (5)9 SCN1A - Myoclonic epilepsy of infancy
SCN2A - Epileptic encephalopathy, neonatal
SCN4A - Hyperkalaemic periodic paralysis
1767-Y TM Domain 4Arrhythmia (2)9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
1768-I TM Domain 4Arrhythmia (8)9 SCN1A - Dravet syndrome
1769-A TM Domain 4Prob. Benign (0)9 CACNA1C - Timothy syndrome
SCN1A - Myoclonic epilepsy of infancy
SCN9A - Erythromelalgia
1771-I TM Domain 4Prob. Benign (0)9 CACNA1A - Hemiplegic migraine and episodic ataxia 2
CACNA1C - Long QT, non-syndromic
1772-L TM Domain 4Arrhythmia (1)
1773-E C-terminusNone9 SCN1A - Myoclonic epilepsy of infancy
1774-N C-terminusArrhythmia (4)9 SCN8A - Epileptic encephalopathy, infantile
1777-V C-terminusArrhythmia (5)
1778-A C-terminusNone9 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
1779-T C-terminusArrhythmia (8)
1780-E C-terminusArrhythmia (2)
1781-E C-terminusArrhythmia (1)9 SCN1A - Generalized epilepsy with febrile seizures plus
1783-T C-terminusNone
1784-E C-terminusArrhythmia (17)
1785-P C-terminusProb. Benign (0)
1786-L C-terminusArrhythmia (3)
1787-S C-terminusConflict (13)
1789-D C-terminusNone8 CACNA1H - Autism spectrum disorder ?
SCN2A - Epilepsy, idiopathic
1790-D C-terminusArrhythmia (7)
1792-D C-terminusOther Cardiac (1)
1793-M C-terminusNone8 CACNA1C - Long QT, non-syndromic
1794-F C-terminusNone8 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
1795-Y C-terminusArrhythmia (9)
1797-I C-terminusProb. Benign (0)
1798-W C-terminusNone8 CACNA1F - Night blindness, congenital stationary, incomplete
SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
SCN9A - Congenital indifference to pain
1802-D C-terminusArrhythmia (1)
1807-Q C-terminusNone9 SCN4A - Myotonia, potassium-aggravated
SCN8A - Epileptic encephalopathy
1809-I C-terminusProb. Benign (0)9 SCN1A - Generalized epilepsy with febrile seizures plus
1812-S C-terminusProb. Benign (0)
1816-D C-terminusProb. Benign (0)
1817-F C-terminusNone9 SCN1A - Myoclonic epilepsy of infancy
1818-A C-terminusNone9 CACNA1F - Night blindness, congenital stationary, incomplete
SCN1A - Dravet syndrome C ?
1819-D C-terminusArrhythmia (3)9 CACNA1C - Autism spectrum disorder
1820-A C-terminusProb. Benign (0)
1821-L C-terminusNone9 SCN1A - Dravet syndrome
1823-E C-terminusProb. Benign (0)
1824-P C-terminusArrhythmia (1)8 CACNA1F - Night blindness, congenital stationary, incomplete
1825-L C-terminusArrhythmia (3)8 SCN1A - Dravet syndrome
SCN2A - Epileptic encephalopathy, early infantile
1826-R C-terminusArrhythmia (6)7 CACNA1F - Night blindness, congenital stationary, incomplete
1828-A C-terminusProb. Benign (0)
1830-P C-terminusNone5 CACNA1F - Night blindness, congenital stationary, incomplete
1832-Q C-terminusArrhythmia (4)
1835-L C-terminusNone9 CACNA1F - Night blindness, congenital stationary, incomplete
1836-I C-terminusNone
1838-M C-terminusNone9 SCN1A - Dravet syndrome C ?, Generalized epilepsy with febrile seizures plus
1839-D C-terminusArrhythmia (2)
1841-P C-terminusNone8 SCN1A - Dravet syndrome C ?
1842-M C-terminusProb. Benign (0)8 SCN1A - Generalized epilepsy with febrile seizures plus
1843-V C-terminusNone6 SCN1A - Generalised epilepsy with febrile seizures plus 2
1847-R C-terminusArrhythmia (1)9 SCN1A - Intractable epilepsy
1849-H C-terminusOther Cardiac (1)9 SCN2A - Ohtahara syndrome
1850-C C-terminusArrhythmia (1)
1852-D C-terminusProb. Benign (0)7 SCN1A - Generalized epilepsy with febrile seizures plus
1853-I C-terminusNone8 SCN1A - Generalized epilepsy with febrile seizures plus
1857-F C-terminusNone8 SCN11A - Painful peripheral neuropathy
1860-R C-terminusArrhythmia (1)
1861-V C-terminusArrhythmia (1)
1864-E C-terminusNone
1866-G C-terminusNone3 SCN1A - Dravet syndrome C ?
1867-E C-terminusNone5 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
1870-A C-terminusArrhythmia (1)
1871-L C-terminusNone4 SCN8A - Epileptic encephalopathy, infantile
1872-K C-terminusArrhythmia (1)4 SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy
1873-I C-terminusProb. Benign (0)
1875-M C-terminusArrhythmia (1)
1876-E C-terminusNone4 SCN4A - Paramyotonia congenita
SCN8A - Epilepsy
1878-K C-terminusNone4 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-terminusNone3 SCN4A - Myotonia
1880-M C-terminusOther Cardiac (1)
1883-N C-terminusNone4 SCN8A - Benign familial infantile epilepsy
1884-P C-terminusProb. Benign (0)
1886-K C-terminusNone
1887-I C-terminusNone
1890-E C-terminusOther Cardiac (1)
1891-P C-terminusNone4 SCN1A - Autism spectrum disorder
1895-T C-terminusProb. Benign (0)4 CACNA1C - Long QT syndrome
SCN1A - Myoclonic epilepsy of infancy
1896-L C-terminusOther Disease (1)
1897-R C-terminusArrhythmia (7)
1898-R C-terminusArrhythmia (1)4 SCN2A - Autism ?
1901-E C-terminusArrhythmia (3)5 SCN3A - Autism spectrum disorder
1903-V C-terminusNone
1904-S C-terminusArrhythmia (8)
1906-M C-terminusProb. Benign (0)
1908-I C-terminusProb. Benign (0)8 SCN1A - Myoclonic epilepsy of infancy
1909-Q C-terminusArrhythmia (4)8 SCN1A - Partial epilepsy with febrile seizures plus
1913-R C-terminusArrhythmia (1)8 CACNA1A - Epilepsy, idiopathic
SCN10A - Brugada syndrome
SCN1A - Dravet syndrome, Generalized epilepsy with febrile seizures plus
1914-R C-terminusProb. Benign (0)8 SCN1A - Myoclonic epilepsy of infancy
SCN2A - Epilepsy, idiopathic generalised ?
1915-H C-terminusProb. Benign (1)
1917-L C-terminusProb. Benign (0)
1918-Q C-terminusNone
1919-R C-terminusProb. Benign (2)6 SCN10A - Brugada syndrome
1920-S C-terminusProb. Benign (0)
1923-H C-terminusProb. Benign (0)3 SCN1A - Generalised epilepsy with febrile seizures plus 2
1924-A C-terminusArrhythmia (6)
1925-S C-terminusNone2 CACNA1H - Autism spectrum disorder
1929-R C-terminusProb. Benign (0)2 CACNA1S - Hypokalaemic periodic paralysis with malignant hyp
1932-A C-terminusProb. Benign (0)
1933-G C-terminusProb. Benign (0)
1934-S C-terminusNone
1935-G C-terminusArrhythmia (3)
1937-S C-terminusProb. Benign (0)
1938-E C-terminusArrhythmia (3)
1939-E C-terminusNone1 SCN10A - Atrial fibrillation & slow ventricular rates
1942-P C-terminusProb. Benign (0)
1943-E C-terminusNone1 SCN1A - Autism ?
1944-R C-terminusProb. Benign (0)
1945-E C-terminusNone1 SCN1A - Myoclonic epilepsy of infancy
1948-I C-terminusProb. Benign (0)
1949-A C-terminusArrhythmia (2)
1950-Y C-terminusProb. Benign (0)
1951-V C-terminusConflict (22)
1954-E C-terminusArrhythmia (1)
1957-S C-terminusProb. Benign (0)
1958-R C-terminusArrhythmia (5)
1962-P C-terminusProb. Benign (3)
1963-P C-terminusProb. Benign (0)
1964-S C-terminusArrhythmia (2)
1965-S C-terminusProb. Benign (0)
1968-I C-terminusArrhythmia (6)
1969-S C-terminusProb. Benign (0)1 SCN1A - Acute encephalopathy
1973-F C-terminusProb. Benign (0)
1977-Y C-terminusArrhythmia (2)
1979-S C-terminusNone1 SCN1A - Epilepsy-aphasia with febrile seizures plus
1980-V C-terminusProb. Benign (0)
1981-T C-terminusProb. Benign (0)
1982-R C-terminusProb. Benign (0)
1983-A C-terminusProb. Benign (0)
1984-T C-terminusProb. Benign (0)
1986-D C-terminusProb. Benign (0)
1987-N C-terminusArrhythmia (2)
1988-L C-terminusArrhythmia (2)
1990-V C-terminusProb. Benign (1)
1991-R C-terminusArrhythmia (4)
1992-G C-terminusProb. Benign (0)
1994-D C-terminusNone1 CACNA1A - Episodic ataxia 2 ?
1997-H C-terminusProb. Benign (0)
2000-D C-terminusProb. Benign (0)
2002-A C-terminusProb. Benign (0)
2003-D C-terminusOther Cardiac (1)
2004-F C-terminusConflict (14)
2005-P C-terminusProb. Benign (3)
2006-P C-terminusConflict (21)
2008-P C-terminusProb. Benign (0)3 CACNA1C - Brugada syndrome (shorter-than-normal QT interval)
2009-D C-terminusProb. Benign (0)
2010-R C-terminusProb. Benign (0)
2011-D C-terminusNone
2012-R C-terminusArrhythmia (2)
2016-V C-terminusArrhythmia (1)