| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Mucopolysaccharidosis (HERC1) | Lysosomal storage disorders (LSDs) | Autosomal Recessive | 15q22.31 | Substitution | HERC1 | c.5941G>A | p.Val1981Ile | Missense | Gul et al., 2023/2023 |
