| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CACNA1A, LOC126862864 (V1393M +2 more) | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +7 more | GPathogenic/Likely pathogenic |
| | CACNA1A, LOC126862864 (C1368S +2 more) | Single nucleotide variant (missense variant) | Migraine, familial hemiplegic, 1 | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Migraine, familial hemiplegic, 1 | |
| | | Single nucleotide variant (missense variant) | CACNA1A-related disorder +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +5 more | GConflicting classifications of pathogenicity |
| | CACNA1A, LOC126862866 (I345M) | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
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