| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Lafora Disease (EPM2A) | Myoclonic epilepsy of Lafora | Autosomal Recessive | 6q24 | Missense | EPM2A | 262 T>G | Phe88Val | Amino Acid Substitution | 0/Aslam et al., 2017 |
