| | | Indel (missense variant) | Migraine +1 more | |
| | | Deletion | Hereditary episodic ataxia +2 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary episodic ataxia | |
| | | Deletion (3 prime UTR variant) | Hereditary episodic ataxia | |
| | | Duplication (3 prime UTR variant) | Hereditary episodic ataxia | |
| | | Deletion (3 prime UTR variant) | Hereditary episodic ataxia | |
| | | Duplication (3 prime UTR variant) | Hereditary episodic ataxia | |
| | | Deletion (3 prime UTR variant) | Hereditary episodic ataxia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Hereditary episodic ataxia | |
| | | Single nucleotide variant | Hereditary episodic ataxia | |
| | | Single nucleotide variant (5 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Juvenile myoclonic epilepsy +1 more | |
| | | Deletion (3 prime UTR variant) | not provided +2 more | |
| | | Duplication (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Deletion (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Deletion (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Duplication (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Deletion (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Deletion (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Deletion (3 prime UTR variant) | not provided +2 more | |
| | | Duplication (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Deletion (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Deletion (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Deletion (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Duplication (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary episodic ataxia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary episodic ataxia +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Duplication (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Deletion (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary episodic ataxia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Deletion (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Duplication (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary episodic ataxia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary episodic ataxia +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary episodic ataxia +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (3 prime UTR variant) | Myokymia +1 more | |
| | | Microsatellite (3 prime UTR variant) | Myokymia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary episodic ataxia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myokymia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary episodic ataxia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Myokymia +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Episodic ataxia type 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary episodic ataxia +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary episodic ataxia +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary episodic ataxia +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (5 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Duplication (5 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Episodic ataxia type 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Episodic ataxia type 1 +1 more | |
| | | Microsatellite (5 prime UTR variant) | Myokymia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 11 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary episodic ataxia +3 more | |