| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC102724058, SCN1A (N1380H +5 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | SCN1A-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | SCN1A-related disorder +4 more | GConflicting classifications of pathogenicity |
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