| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Polydactyly (IQCE) | Post-axial polydactyly type A | Autosomal Recessive | 7p22.3 | Splice Acceptor site | IQCE | c.395-1G>A | p.Gly132Valfs*22 | FS & PTC | 0/Umair et al., 2017 |
| Polydactyly (IQCE) | Post-axial polydactyly type A | Autosomal Recessive | 7p22.3 | Splice Acceptor site | IQCE | c.395-1G>A | p.Gly132Valfs*22 | FS & PTC | 0/Umair et al., 2017 |
