| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Inherited retinal dystrophies (RAX2) | Inherited retinal dystrophies/Retinitis pigmentosa 95 | Autosomal Recessive | 19p13.3 | Substitution | RAX2 | c.374G>A | p.Arg79Gln | Missense | Biswas et al., 2021/2021 |
