| | | Single nucleotide variant (3 prime UTR variant +1 more) | Developmental and epileptic encephalopathy, 42 | |
| | | Microsatellite (3 prime UTR variant +1 more) | Developmental and epileptic encephalopathy, 42 +2 more | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 42 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 | |
| | | Single nucleotide variant (nonsense) | Episodic ataxia type 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 42 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +1 more | |
| | CACNA1A, LOC126862864 (V1392L +2 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +1 more | GConflicting classifications of pathogenicity |
| | CACNA1A, LOC126862864 (V1393M +2 more) | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +7 more | GPathogenic/Likely pathogenic |
| | | 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 (missense variant) | Episodic ataxia type 2 +1 more | |
| | CACNA1A (E1207del +2 more) | Microsatellite (inframe_deletion) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 42 | |
| | | 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 |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 | |
| | | Deletion (frameshift variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 42 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 42 | |
| | 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 |
| | | Single nucleotide variant (nonsense) | Episodic ataxia type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 | |