| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital Cataract(GJA3) | Visual impairment,Blindness | Autosomal Recessive | 13q12.11 | Frameshift Mutation | GJA3 | 950dup | His318ProfsX8 | Premature Chain Termination | 0/Micheal S et.al.,,,2018 |
| Congenital Cataract(GJA8) | Visual impairment,Blindness | Autosomal Dominant | 1q21.2 | Missense Mutation | GJA8 | 53C>T | Ser18Phe | Amino acid substitution | 0/Micheal S et.al.,,,2018 |
