| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Leukodystrophy (ARSA) | Metachromatic leukodystrophy | Autosomal Recessive | 22q13.33 | Substitution | ARSA | c.361G > C | p.(Gly121Arg) | Missense | Bibi et al, 2020/2020 |
