| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +1 more | |
| | CACNA1A, LOC126862864 (V1393M +2 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +7 more | GPathogenic/Likely pathogenic |
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