| | PSMG3, PSMG3-AS1 +904 more | Copy number gain | See cases | |
| | LOC129997989, LOC129997990 +823 more | Copy number gain | See cases | |
| | LOC110120728, LOC110120749 +879 more | Copy number gain | See cases | |
| | CCDC146, CCDC201 +4735 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860013, LOC126860014 +1298 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129997985, LOC129997986 +560 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC123924901, LOC123924902 +331 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129998080, LOC129998081 +248 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | FERD3L, LOC126859955 +2 more | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion | Saethre-Chotzen syndrome +1 more | |
| | | Single nucleotide variant (stop lost +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | LOC129998021, TWIST1 (A200E) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC129998021, TWIST1 (W196*) | Single nucleotide variant (nonsense +1 more) | TWIST1-related craniosynostosis +1 more | |
| | LOC129998021, TWIST1 (V189I) | Single nucleotide variant (missense variant +1 more) | Saethre-Chotzen syndrome +1 more | |
| | LOC129998021, TWIST1 (S188L) | Single nucleotide variant (missense variant +1 more) | TWIST1-related craniosynostosis | |
| | LOC129998021, TWIST1 (F187S) | Single nucleotide variant (missense variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | LOC129998021, TWIST1 (A186T) | Single nucleotide variant (missense variant +1 more) | TWIST1-related craniosynostosis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Saethre-Chotzen syndrome +1 more | |
| | LOC129998021, TWIST1 (R182L) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC129998021, TWIST1 (E181*) | Single nucleotide variant (nonsense +1 more) | Saethre-Chotzen syndrome | |
| | LOC129998021, TWIST1 (H180fs) | Duplication (frameshift variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | LOC129998021, TWIST1 (Y177*) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | LOC129998021, TWIST1 (Y177C) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC129998021, TWIST1 (Y177S) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC129998021, TWIST1 (S176R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC129998021, TWIST1 (A173fs) | Deletion (frameshift variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | LOC129998021, TWIST1 (K171fs) | Duplication (frameshift variant +1 more) | Saethre-Chotzen syndrome +1 more | |
| | LOC129998021, TWIST1 (S170fs) | Duplication (frameshift variant +1 more) | Robinow-Sorauf syndrome | |
| | LOC129998021, TWIST1 (S170T) | Single nucleotide variant (missense variant +1 more) | Saethre-Chotzen syndrome +1 more | |
| | LOC129998021, TWIST1 (L168R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC129998021, TWIST1 (L163P) | Single nucleotide variant (missense variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | LOC129998021, TWIST1 (L163F) | Single nucleotide variant (non-coding transcript variant +1 more) | Saethre-Chotzen syndrome +1 more | |
| | LOC129998021, TWIST1 (V162fs) | Deletion (frameshift variant +1 more) | Saethre-Chotzen syndrome +1 more | |
| | LOC129998021, TWIST1 (L159H) | Single nucleotide variant (missense variant +1 more) | Saethre-Chotzen syndrome | |
| | LOC129998021, TWIST1 (L159P) | Single nucleotide variant (missense variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | LOC129998021, TWIST1 (L159V) | Single nucleotide variant (missense variant +1 more) | Saethre-Chotzen syndrome | |
| | LOC129998021, TWIST1 (L159F) | Single nucleotide variant (missense variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | LOC129998021, TWIST1 (F158L) | Single nucleotide variant (missense variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | LOC129998021, TWIST1 (F158L) | Single nucleotide variant (missense variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | LOC129998021, TWIST1 (I156S) | Single nucleotide variant (non-coding transcript variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | LOC129998021, TWIST1 (I156V) | Single nucleotide variant (non-coding transcript variant +1 more) | Saethre-Chotzen syndrome +1 more | GPathogenic/Likely pathogenic |
| | LOC129998021, TWIST1 (Y155*) | Single nucleotide variant (nonsense +1 more) | TWIST1-related craniosynostosis +1 more | |
| | LOC129998021, TWIST1 (R154fs) | Duplication (frameshift variant +1 more) | Robinow-Sorauf syndrome | |
| | LOC129998021, TWIST1 (A152V) | Single nucleotide variant (missense variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | LOC129998021, TWIST1 (A152E) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | LOC129998021, TWIST1 (A152P) | Single nucleotide variant (missense variant +1 more) | TWIST1-related condition | |
| | LOC129998021, TWIST1 (L151V) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (inframe_deletion +1 more) | Saethre-Chotzen syndrome | |
| | LOC129998021, TWIST1 (L149R) | Single nucleotide variant (missense variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | LOC129998021, TWIST1 (L149F) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC129998021, TWIST1 (T148I) | Single nucleotide variant (missense variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | LOC129998021, TWIST1 (I146T) | Single nucleotide variant (missense variant +1 more) | Saethre-Chotzen syndrome +1 more | |
| | LOC129998021, TWIST1 (I146S) | Single nucleotide variant (missense variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | LOC129998021, TWIST1 (K145E) | Single nucleotide variant (missense variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | LOC129998021, TWIST1 (K142fs) | Duplication (frameshift variant +1 more) | not provided | |
| | LOC129998021, TWIST1 (D141N) | Single nucleotide variant (non-coding transcript variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | | Duplication (inframe_insertion +1 more) | Saethre-Chotzen syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | TWIST1-related condition +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Saethre-Chotzen syndrome +1 more | |
| | | Duplication (nonsense +1 more) | Saethre-Chotzen syndrome +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Duplication (inframe_insertion +1 more) | TWIST1-related craniosynostosis +2 more | |
| | | Duplication (inframe_insertion +1 more) | not provided +2 more | |
| | | Duplication (inframe_insertion +1 more) | TWIST1-related craniosynostosis +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Saethre-Chotzen syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | | Deletion (inframe_deletion +1 more) | Saethre-Chotzen syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | | Deletion (frameshift variant +1 more) | Saethre-Chotzen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | | Duplication (inframe_insertion +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Saethre-Chotzen syndrome +1 more | |
| | | Microsatellite (inframe_deletion +1 more) | TWIST1-related craniosynostosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | | Deletion (inframe_deletion +1 more) | Inborn genetic diseases | |
| | | Indel (missense variant +1 more) | Coronal craniosynostosis | |
| | | Single nucleotide variant (nonsense +1 more) | Saethre-Chotzen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | TWIST1-related craniosynostosis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Saethre-Chotzen syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | | Indel (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Coronal craniosynostosis | |
| | | Single nucleotide variant (nonsense +1 more) | TWIST1-related craniosynostosis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | TWIST1-related craniosynostosis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | TWIST1-related craniosynostosis +1 more | |