| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Lafora disease | |
| | | Deletion (inframe_deletion) | Lafora disease | |
| | | Single nucleotide variant (nonsense) | Lafora disease | |
| | | Single nucleotide variant (missense variant) | Lafora disease +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene