| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Split Hand/Foot Malformation Type (DLX6) | split hands & feet | Autosomal Dominant | 7q21 | Missense | DLX6 | c.632T>A | p.Val211Glu | Amino Acid substitution | /Ullah et al., 2017 |
