| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC102724058, SCN1A (N1729fs +5 more) | Indel (frameshift variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (I1534V +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy +3 more | |
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