| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC102724058, SCN1A (A1823V +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy +3 more | GConflicting classifications of pathogenicity |
| | LOC102724058, SCN1A (A1695P +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (L1563P +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy +1 more | GConflicting classifications of pathogenicity |
| | LOC102724058, SCN1A (P1490fs +5 more) | Duplication (frameshift variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts +3 more | GConflicting classifications of pathogenicity |
| | LOC102724058, SCN1A (V1355I +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts +2 more | GConflicting classifications of pathogenicity |
| | LOC102724058, SCN1A (F1194C +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (Q1137fs +5 more) | Deletion (non-coding transcript variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (I1068S +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Severe myoclonic epilepsy in infancy | |
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