| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | CACNA1A, LOC126862865 (D1317N +2 more) | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Episodic ataxia type 2 +3 more | |
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