| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Inherited retinal dystrophy (NMNAT1) | Retinitis Pigmentosa | Autosomal Recessive | 1p36.22 | Substitution | NMNAT1 | c.547C>T | p.Leu183Phe | Missense | Tehreem et al., 2022/2022 |
