| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Inherited retinal dystrophies (PEX6) | Retinal dystrophies | Autosomal Recessive | 6p21.1 | Substitution | PEX6 | c.2626C>T | p.Arg876Trp | Missense | Biswas et al., 2021/2021 |
