| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Grebe type chondrodysplasia and brachydactyly | Grebe type chondrodysplasia and brachydactyly type C+ | Autosomal Dominant | 20q11.22 | Delation | GDF5 | c.404delC | Frameshift | Faryal et al., 2021/2021 |
