| | | Single nucleotide variant (missense variant +1 more) | Craniosynostosis 4 | |
| | | Single nucleotide variant (missense variant) | Craniosynostosis 4 +2 more | |
| | | Single nucleotide variant (intron variant) | Craniosynostosis 4 +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) | Craniosynostosis 4 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder +5 more | GPathogenic/Likely pathogenic |
| | | Translocation | Craniosynostosis 4 +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 +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Craniosynostosis 4 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | TWIST1-related craniosynostosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ERF-related condition +3 more | |
| | | Deletion (frameshift variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Chitayat syndrome +2 more | |