| | | Single nucleotide variant (3 prime UTR variant +1 more) | Developmental and epileptic encephalopathy, 42 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 42 +1 more | GConflicting classifications of pathogenicity |
| | CACNA1A, LOC130063717 (G2252C +3 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +1 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Episodic ataxia type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GPathogenic/Likely pathogenic |
| | CACNA1A, LOC126862864 (V1393M +2 more) | Single nucleotide variant (missense variant) | Migraine, familial hemiplegic, 1 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +5 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Episodic ataxia type 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_insertion) | Episodic ataxia type 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +1 more | |