| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 52 | |
| | | Deletion (frameshift variant +1 more) | Developmental and epileptic encephalopathy, 52 | |
| | | 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) | Developmental and epileptic encephalopathy, 52 +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) | Developmental and epileptic encephalopathy, 52 +4 more | |
| | | Single nucleotide variant (missense variant) | Brugada syndrome 5 +4 more | |
| | | Single nucleotide variant (nonsense) | Migraine, familial hemiplegic, 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Brugada syndrome 5 +5 more | |
| | | Deletion (frameshift variant) | Spinocerebellar ataxia type 6 +4 more | |
| | | Single nucleotide variant (nonsense) | Spinocerebellar ataxia type 6 +4 more | |
| | | 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 | 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 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant) | Generalized epilepsy with febrile seizures plus, type 1 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Generalized epilepsy with febrile seizures plus, type 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 52 +4 more | |
| | | Single nucleotide variant (nonsense) | Episodic ataxia type 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy with febrile seizures plus, type 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 52 | |
| | | Single nucleotide variant (splice acceptor variant) | Brugada syndrome 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Migraine, familial hemiplegic, 1 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Brugada syndrome 5 +5 more | |
| | | Single nucleotide variant (missense variant) | Brugada syndrome 5 +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Atrial fibrillation, familial, 13 +5 more | |
| | | Single nucleotide variant (synonymous variant) | Brugada syndrome 5 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Brugada syndrome 5 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Generalized epilepsy with febrile seizures plus, type 1 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Brugada syndrome 5 +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +5 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Generalized epilepsy with febrile seizures plus, type 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 52 | |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy with febrile seizures plus, type 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Migraine, familial hemiplegic, 1 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Generalized epilepsy with febrile seizures plus, type 1 +3 more | |
| | | Single nucleotide variant (intron variant) | Generalized epilepsy with febrile seizures plus, type 1 +5 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +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) | not specified +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +5 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 52 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | SCN1B-related disorder +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Atrial fibrillation, familial, 13 +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy with febrile seizures plus, type 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Brugada syndrome 5 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | not specified +6 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 52 +1 more | |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy with febrile seizures plus +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 +5 more | |