| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | SCN4A-related disorder +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | SCN4A-related disorder | |
Click to view in NCBI Gene