| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic epilepsy, progressive, X-linked +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Progressive myoclonic epilepsy +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene