| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | SCN1A-related disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | WDR37-related condition +7 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene