| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Trichorhinophalangeal syndrome type III | Autosomal Dominant | 8q24.1 | Missense | TRPS1 | 2762G>T | Gly921Val | Amino Acid Substitution | Tariq et al., 2008/2008 |
