| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Duplication (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 +1 more | |
| | | Deletion (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Deletion (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Duplication (3 prime UTR variant) | Hereditary episodic ataxia +1 more | |
| | | Deletion (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Episodic ataxia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile myoclonic epilepsy +2 more | |