| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EPM2A, EPM2A-DT
+1 more (F88Y) | Single nucleotide variant (missense variant +2 more) | Myoclonic epilepsy of Lafora 1 | |
| | EPM2A, EPM2A-DT
+1 more (E70V) | Single nucleotide variant (missense variant +2 more) | Myoclonic epilepsy of Lafora 1 +1 more | |
| | EPM2A, EPM2A-DT
+1 more (W60fs) | Deletion (frameshift variant +2 more) | Myoclonic epilepsy of Lafora 1 | |
| | EPM2A, EPM2A-DT
+1 more (E56*) | Single nucleotide variant (nonsense +2 more) | Myoclonic epilepsy of Lafora 1 +1 more | |
Click to view in NCBI Gene