| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Mucopolysaccharidosis II (IDS) | Lysosomal storage disorders (LSDs) | X-linked recessive | Xq28 | Substitution | IDS | c.353T>A | p.Leu118Ter | Missense | Gul et al., 2023/2023 |
| Mucopolysaccharidosis II (IDS) | Lysosomal storage disorders (LSDs) | X-linked recessive | Xq28 | Substitution | IDS | c.1264C>G | p.Cys422Ser | Missense | Gul et al., 2023/2023 |
| Mucopolysaccharidosis II (IDS) | Lysosomal storage disorders (LSDs) | X-linked recessive | Xq28 | Substitution | IDS | 1035C>T | p.Trp345Ter | Missense | Gul et al., 2023/2023 |
