| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Retinitis pigmentosa 45 (CNGB1) | Night blindness, Visual field constriction | Autosomal Recessive | Splice site | CNGB1 | c.413-1G>A | p.? | Exon skipping | 2015/Saqib et al. 2015 | |
| Inherited retinal dystrophies (CNGB1) | Retinitis pigmentosa 45 | Autosomal Recessive | 16q21 | Deletion | CNGB1 | c.2497_2498delAT | p.Ile833Serfs*18 | Frameshift | Biswas et al., 2021/2021 |
