| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +3 more | |
| | | Copy number loss | Developmental and epileptic encephalopathy, 42 +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +3 more | |
| | | Single nucleotide variant (nonsense) | Episodic ataxia type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 +2 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +3 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Spinocerebellar ataxia type 6 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +1 more | |
| | | Single nucleotide variant (missense variant) | Migraine, familial hemiplegic, 1 +2 more | |
| | | Duplication (frameshift variant) | 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, 52 +3 more | |
| | | 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) | Episodic ataxia type 2 +4 more | GPathogenic/Likely pathogenic |
| | CACNA1A, LOC126862865 (D1316E +2 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 52 +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 52 +3 more | |
| | | Single nucleotide variant (missense variant) | CACNA1A-associated disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +5 more | GConflicting classifications of pathogenicity |
| | | 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 |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 52 +4 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Deletion (frameshift variant) | Spinocerebellar ataxia type 6 | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 | |
| | CACNA1A, LOC108663985 (Q2325del +1 more) | Microsatellite (3 prime UTR variant +1 more) | Episodic ataxia type 2 +4 more | |
| | | Microsatellite (3 prime UTR variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +4 more | |
| | | Microsatellite (3 prime UTR variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Migraine, familial hemiplegic, 1 +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Spinocerebellar ataxia type 6 +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Microsatellite (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Deletion (intron variant) | Spinocerebellar ataxia type 6 +4 more | |
| | | Single nucleotide variant (intron variant) | Spinocerebellar ataxia type 6 +4 more | |
| | | Single nucleotide variant (intron variant) | Episodic ataxia type 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 | |
| | | Deletion (frameshift variant) | Spinocerebellar ataxia type 6 | |
| | | Single nucleotide variant (intron variant) | Episodic ataxia type 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Spinocerebellar ataxia type 6 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Spinocerebellar ataxia type 6 +4 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Migraine, familial hemiplegic, 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (nonsense) | Spinocerebellar ataxia type 6 | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 52 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +4 more | |
| | | Deletion (frameshift variant) | Episodic ataxia type 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Episodic ataxia type 2 +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +6 more | |
| | | Single nucleotide variant (missense variant) | Migraine, familial hemiplegic, 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Migraine, familial hemiplegic, 1 +3 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 42 +4 more | |
| | | Single nucleotide variant (intron variant) | Spinocerebellar ataxia type 6 +4 more | |
| | | Single nucleotide variant (intron variant) | Migraine, familial hemiplegic, 1 +4 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 42 +4 more | |
| | | Single nucleotide variant (intron variant) | Migraine, familial hemiplegic, 1 +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +6 more | GPathogenic/Likely pathogenic |
| | CACNA1A (R1005del +2 more) | Deletion (inframe_deletion) | Spinocerebellar ataxia type 6 +2 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 | |
| | | Deletion (3 prime UTR variant +1 more) | CACNA1A-related disorder +13 more | GConflicting classifications of pathogenicity |
| | | Duplication (nonsense) | Inborn genetic diseases +1 more | |
| | | Duplication (inframe_insertion) | Episodic ataxia type 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Episodic ataxia type 2 +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite | Episodic ataxia type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (nonsense) | Episodic ataxia type 2 +2 more | |
| | | Single nucleotide variant (intron variant) | Episodic ataxia type 2 +4 more | |
| | | Single nucleotide variant (intron variant) | Episodic ataxia type 2 +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +4 more | |
| | | Single nucleotide variant (intron variant) | Episodic ataxia type 2 +4 more | GConflicting classifications of pathogenicity |