| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Epidermolysis bullosa simplex 5D, generalized intermediate (EBS5D, PLEC) | Epidermolysis bullosa simplex generalized | Autosomal Recessive | 8q24.3 | Deletion | PLEC | 1283_1285delGCT | Leu426del | Frameshift | 2021/Fozia et al. 2021 |
| Epidermolysis Bullosa (PLEC) | Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive | Autosomal Recessive | 8q24.3 | Substitution | PLEC | c.1828C>G | p.(Arg610Gly) | Missense | Khan et al. 2021/2021 |
