| | | Single nucleotide variant (5 prime UTR variant +1 more) | Craniosynostosis 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Craniosynostosis 4 | |
| | | Single nucleotide variant (missense variant) | TWIST1-related craniosynostosis +2 more | |
| | | Single nucleotide variant (intron variant) | Chitayat syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Craniosynostosis 4 +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Craniosynostosis 4 | |
| | | Duplication (frameshift variant) | Craniosynostosis 4 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Craniosynostosis 4 | |
| | | Single nucleotide variant (missense variant) | Craniosynostosis 4 | |
| | | Deletion (frameshift variant) | Craniosynostosis 4 | |
| | | Single nucleotide variant (nonsense) | Craniosynostosis 4 | |
| | | Deletion (nonsense) | TWIST1-related craniosynostosis +1 more | |
| | | Single nucleotide variant (missense variant) | Craniosynostosis 4 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | TWIST1-related craniosynostosis +5 more | GPathogenic/Likely pathogenic |
| | | Translocation | Abnormal facial skeleton morphology +10 more | |
| | | Single nucleotide variant (missense variant +2 more) | Craniosynostosis 4 | |
| | | Single nucleotide variant (splice acceptor variant) | Craniosynostosis 4 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Craniosynostosis 4 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Craniosynostosis 4 +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Craniosynostosis 4 +2 more | |