| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Absence seizure | |
| | | Single nucleotide variant (missense variant +1 more) | Absence seizure +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Juvenile myoclonic epilepsy | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Myoclonic epilepsy, juvenile, susceptibility to, 1 +1 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | not provided | |
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