| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Brachydactyly Type C (BDC, GDF5) | Brachydactyly & mild Grebe type chondrodyslplasia | Autosomal Dominant | 20q11.22 | Missense | GDF5 | 527T>C | Leu176Pro | Amino Acid Substitution | 0/Farooq et al., 2013 |
