| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC102724058, SCN1A (R1634Q +5 more) | Single nucleotide variant (missense variant +1 more) | Migraine, familial hemiplegic, 3 +5 more | |
| | | Deletion (nonsense +1 more) | Epileptic encephalopathy | |
| | LOC102724058, SCN1A (N1594I +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (S1203* +5 more) | Duplication (nonsense +1 more) | Severe myoclonic epilepsy in infancy | |
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