| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Temtamy preaxial brachydactyly (CHSY1) | hyperphalangism of digits, facial dysmorphism etc | Autosomal Recessive | 15q26.3 | Missense | CHSY1 | 1897G>A | Asp633Gln | Amino Acid Substitution | Sher et al., 2014/2014 |
| Temtamy preaxial brachydactyly (CHSY1) | hyperphalangism of digits, facial dysmorphism etc | Autosomal Recessive | 15q26.3 | Missense | CHSY1 | 1616C>G | Pro539Arg | Amino Acid Substitution | Li et al., 2010/2010 |
