| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Mucopolysaccharidosis (ABCA5) | Lysosomal storage disorders (LSDs) | Autosomal Recessive | 17q24.3 | Substitution | ABCA5 | c.26569G>A | p.Arg857Cys | Missense | Gul et al., 2023/2023 |
