| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EPM2A, EPM2A-DT
+1 more (Q55*) | Single nucleotide variant (nonsense +2 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | EPM2A, EPM2A-DT
+1 more (A37fs) | Deletion (frameshift variant +2 more) | Progressive myoclonic epilepsy +1 more | |
Click to view in NCBI Gene