| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| limb-girdle muscular dystrophy type 25 (LGMDR25) | limb-girdle muscular dystrophy | Autosomal Recessive | 6q21 | Substitution | POPDC1 | c.401C>T | p.Pro134Leu | Missense | Mahmood, A et al., 2023/2023 |
