| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy type 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy type 3 | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy type 3 | |
| | | Deletion (inframe_deletion) | Progressive myoclonic epilepsy type 3 | |
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