| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | Lafora disease | |
| | | Single nucleotide variant (missense variant +2 more) | Lafora disease | |
| | EPM2A, EPM2A-DT
+1 more (E28fs) | Deletion (frameshift variant +2 more) | Myoclonic epilepsy of Lafora 1 | |
Click to view in NCBI Gene