| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Limb-girdle muscular dystrophy type 26 (LGMD) | Affecting different muscles, predominantly skeletal muscles and cardiac muscles | Autosomal Recessive | 6q21 | Substitution | POPDC3 | c.460A>G | p.Lys154Glu | Missense | Ullah et al., 2022/2022 |
