| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy type 3 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy type 3 | |
| | | Deletion (splice donor variant) | Progressive myoclonic epilepsy type 3 | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy type 3 +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene