| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Pseudoachondroplasia (COMP) | Pseudoachondroplasia | Autosomal Dominant | 19p13.11 | Substitution | COMP | c.1423G>A | p.(D475N) | Missense | Tariq et al., 2018/2018 |
