| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Leber Congenital Amaurosis (LCA8, CRB1) | Congenital Blindness | Autosomal Recessive | 1q31.3 | Substitution | CRB1 | 107C>G | Ser36* | Nonsense | 0/McKibbin et al., 2010 |
| Retinitis Pigmentosa | retinal degenration | autosomal recessive | 1q31.3 | Missense | CRB1 | C3296A | T1099K | 0/Azam et al., 2011 | |
| Leber Congenital Amaurosis (LCA8, CRB1) | Leber congenital amaurosis 8 | Autosomal Recessive | 1q31.3 | Deletion | CRB1 | c.3007_3016del | p.(Gly1003IlefsTer23) | Frameshift | Zafar et al., 2025/2025 |
