| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Brachydactyly type B1 (ROR2) | Terminal deficiency of fingers & toes | Autosomal Dominant | 9q22.31 | Nonsense | ROR2 | 2278C>T | Gln760* | Premature Termination | 0/Habib et al., 2011 |
