| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EPM2A, EPM2A-DT
+1 more (G79R) | Single nucleotide variant (missense variant +2 more) | not provided +3 more | |
| | EPM2A, EPM2A-DT
+1 more (A46T) | Single nucleotide variant (missense variant +2 more) | Seizure +5 more | GConflicting classifications of pathogenicity |
| | EPM2A, EPM2A-DT
+1 more (A46P) | Single nucleotide variant (missense variant +2 more) | Lafora disease +4 more | |
Click to view in NCBI Gene