| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | CACNA1A-associated disorder +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Episodic ataxia type 2 +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene