| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | CACNA1S-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myopathy 18 +4 more | |
Click to view in NCBI Gene