| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC102724058, SCN1A (T1163S +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Coronal craniosynostosis +26 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Generalized non-motor (absence) seizure | |
Click to view in NCBI Gene