| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Absence seizure +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +4 more | |
| | | Deletion (frameshift variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic epilepsy, juvenile, susceptibility to, 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Absence seizure +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Absence seizure +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Absence seizure +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Absence seizure +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Juvenile myoclonic epilepsy +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Absence seizure +3 more | |
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