| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Marfan Syndrome (FBN1) | Ocular, skeletal and cardiovascular defects | Autosomal Dominant | 15q21.1 | Missense | FBN1 | 368T>A | Cys790Ser | Amino Acid Substitution | Micheal et al., 2012/2012 |
