| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Leukodystrophy (ABCD1) | Adrenoleukodystrophy | X linked recessive | Xq28 | Substitution | ABCD1 | c.2135G > A | p.(Arg712His) | Missense | Bibi et al, 2020/2020 |
