| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Phthisis Bulbi(MARK3) | reduce vision,reduce eye size | Autosomal Recessive | 14q32.32-q32.33 | Nonsynonymous substitution | MARK3 | 1708C>G | Arg570Gly | Amino acid substitution | 0/Ansar M et.al,,,2018 |
