| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Mucopolysaccharidosis type IIIA (Sanfilippo A) | Lysosomal storage disorders (LSDs) | Autosomal Recessive | 17q25.3 | Substitution | SGSH | c.220G>A | p.Arg74Cys | Missense | Gul et al., 2023/2023 |
