| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Split-hand/foot malformation (HOXD13) | split hands & feet | Autosomal Dominant | 2q31.1 | Missense | HOXD13 | c.500A>G | p.(Tyr167Cys | Amino Acid substitution | /Abdullah et al., 2023 |
