| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Mucopolysaccharidosis (RRAS2) | Lysosomal storage disorders (LSDs) | 11p15.2 | Substitution | RRAS2 | c.439C>T | p.Arg147Trp | Missense | Gul et al., 2023/2023 |
