| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CACNA1A, LOC130063717 (R2260W +3 more) | Single nucleotide variant (missense variant) | CACNA1A-related disorder +5 more | |
| | LOC130063717, CACNA1A (A2258T +3 more) | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
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