| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Leber Congenital Amaurosis (LCA4, AIPL1) | Congenital Blindness | Autosomal Recessive | 17p13.2 | Substitution | AIPL1 | 116C>A | Thr39Asp | Missense | 0/Khaliq et al., 2003 |
| Leber Congenital Amaurosis (LCA4, AIPL1) | Congenital Blindness | Autosomal Recessive | 17p13.2 | Substitution | AIPL1 | 834G>A | Trp278* | Nonsense | 0/Sohocki et al., 2000 |
| Leber Congenital Amaurosis (AIPL1) | Congenital blindness | Autosomal recessive | 17p13.2 | Substitution | AIPL1 | p.Trp278* | Nonsense | Damji et al. 2001/2001 | |
| Leber Congenital Amaurosis (LCA4, AIPL1) | Leber congenital amaurosis 4 | Autosomal Recessive | 17p13.2 | Substitution | AIPL1 | c.664T>C | p.(Trp222Arg) | Misense | Zafar et al., 2025/2025 |
| Leber Congenital Amaurosis (LCA4, AIPL1) | Leber congenital amaurosis 4 | Autosomal Recessive | 17p13.2 | Substitution | AIPL1 | c.834G>A | p.Trp278Ter | Nonsense | Zafar et al., 2025/2025 |
| Leber Congenital Amaurosis (LCA4, AIPL1) | Leber congenital amaurosis 4 | Autosomal Recessive | 17p13.2 | Substitution | AIPL1 | c.645G>A | p.(Trp215Ter) | Nonsense | Zafar et al., 2025/2025 |
