| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Leukodystrophy (ASPA) | Canavan disease phenotype | Autosomal Recessive | 17p13.2 | Substitution | ASPA | c.162C > A | p.(Asn54Lys) | Missense | Bibi et al, 2020/2020 |
