| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Muscular dystrophy (SGCB) | Muscular dystrophy, limb-girdle, autosomal recessive 4 | Autosomal Recessive | 4q12 | Substitution | SGCB | c.902C>T | p.Thr301Ile | Missense | Akram et al., 2024/2024 |
| Muscular dystrophy (SGCB) | Muscular dystrophy, limb-girdle, autosomal recessive 4 | Autosomal Recessive | 4q12 | Substitution | SGCB | c.668G>A | p.Arg223His | Missense | Akram et al., 2024/2024 |
