| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Van der Woude Syndrome (IRF6) | lower lip pits, hypodontia,CP,bifid uvula | Autosomal Dominant | 1q32.2 | Nonsense | IRF6 | 1234C>T | Arg412* | Premature Termination | Malik et al., 2010/2010 |
| Van der Woude Syndrome (IRF6) | lower lip pits, hypodontia,CP,bifid uvula | Autosomal Dominant | 1q32.2 | Missense | IRF6 | 1219T>C | Ser407Pro | Amino Acid Substitution | Malik et al., 2010/2010 |
| Van der Woude Syndrome (IRF6) | lower lip pits, hypodontia,CP,bifid uvula | Autosomal Dominant | 1q32.2 | Deletion | IRF6 | 568delG | Ala190fs*34 | Frame shift mutation & PTC | Malik et al., 2010/2010 |
| Van der Woude Syndrome (IRF6) | lower lip pits, hypodontia,CP,bifid uvula | Autosomal Dominant | 1q32.2 | Missense | IRF6 | 1198C>T | Arg400Trp | Amino Acid Substitution | Malik et al., 2010/2010 |
| Van der Woude Syndrome (IRF6) | lower lip pits, hypodontia,CP,bifid uvula | Autosomal Dominant | 1q32.2 | Missense | IRF6 | 1122C>G | Cys374Trp | Amino Acid Substitution | Malik et al., 2010/2010 |
| Van der Woude Syndrome (IRF6) | lower lip pits, hypodontia,CP,bifid uvula | Autosomal Dominant | 1q32.2 | Missense | IRF6 | 1199G>A | Arg400Gln | Amino Acid Substitution | Malik et al., 2010/2010 |
| Van der Woude Syndrome (IRF6) | lower lip pits, hypodontia,CP,bifid uvula | Autosomal Dominant | 1q32.2 | Missense | IRF6 | 250C>T | Arg84Cys | Amino Acid Substitution | Malik et al., 2010/2010 |
| Van der Woude Syndrome (IRF6) | lower lip pits, hypodontia,CP,bifid uvula | Autosomal Dominant | 1q32.2 | Missense | IRF6 | 961G>A | Val321Met | Amino Acid Substitution | Malik et al., 2010/2010 |
| Van der Woude Syndrome (IRF6) | lower lip pits, hypodontia,CP,bifid uvula | Autosomal Dominant | 1q32.2 | Missense | IRF6 | 295G>A | Gly99Ser | Amino Acid Substitution | Malik et al., 2010/2010 |
| Van der Woude Syndrome (IRF6) | lower lip pits, hypodontia,CP,bifid uvula | Autosomal Dominant | 1q32.2 | Missense | IRF6 | 749G>A | Arg250Gln | Amino Acid Substitution | Malik et al., 2010/2010 |
| Van der Woude Syndrome (IRF6) | lower lip pits, hypodontia,CP,bifid uvula | Autosomal Dominant | 1q32.2 | Deletion | IRF6 | 635delG | Ser212fs*12 | Frame shift mutation & PTC | Malik et al., 2014/2014 |
| Van der Woude Syndrome (IRF6) | lower lip pits, hypodontia,CP,bifid uvula | Autosomal Dominant | 1q32.2 | Deletion | IRF6 | 21_33del | Arg7fs*52 | Frame shift mutation & PTC | Malik et al., 2014/2014 |
| Van der Woude Syndrome (IRF6) | lower lip pits, hypodontia,CP,bifid uvula | Autosomal Dominant | 1q32.2 | Missense | IRF6 | 2T>C | Met1Thr | Amino Acid Substitution | Malik et al., 2014/2014 |
| Van der Woude Syndrome (IRF6) | lower lip pits, hypodontia,CP,bifid uvula | Autosomal Dominant | 1q32.2 | Nonsense | IRF6 | 610C>T | Gln204* | Premature Termination | Malik et al., 2010/2010 |
