| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 52 +3 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Spinocerebellar ataxia type 6 +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 52 +3 more | |
| | | Duplication (frameshift variant) | Developmental and epileptic encephalopathy, 52 +3 more | |
| | | Single nucleotide variant (missense variant) | Migraine, familial hemiplegic, 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 52 +4 more | |
| | CACNA1A, LOC126862864 (V1393M +2 more) | Single nucleotide variant (missense variant) | Migraine, familial hemiplegic, 1 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Migraine, familial hemiplegic, 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +5 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 52 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | CACNA1A-associated disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +5 more | GConflicting classifications of pathogenicity |
| | CACNA1A, LOC126862865 (D1316E +2 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 52 +3 more | |
| | | Single nucleotide variant (nonsense) | Migraine, familial hemiplegic, 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 52 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 52 +3 more | |
| | | Deletion (inframe_deletion) | Developmental and epileptic encephalopathy, 52 +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 52 +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 +5 more | |
| | | Single nucleotide variant (nonsense) | Episodic ataxia type 2 +4 more | |
| | | Deletion (frameshift variant) | Spinocerebellar ataxia type 6 +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 52 +3 more | |