| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Post-Axial Polydactyly (GLI1) | Postaxial polydactyly | Autosomal Dominant | Missense | GLI1 | 1064C>A | Thr355Asn | Amino Acid Substitution | Yousef et al., 2019/2019 | |
| Post-Axial Polydactyly (GLI1) | Postaxial polydactyly | Autosomal Recessive | 12q13.3 | Substitution | GLI1 | c.1010C > T | p. Ser337Leu | Missense | Umair et al., 2021/2021 |
