| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (missense variant) | Migraine +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal dominant 4 +24 more | |
| | CACNA1A, LOC126862864 (V1393M +2 more) | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +7 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene