NM_000474.4(TWIST1):c.397_417dup (p.Lys133_Pro139dup)Pathogenic
Saethre-Chotzen syndrome|not provided|Saethre-Chotzen syndrome;TWIST1-related craniosynostosis|TWIST1-related craniosynostosis
β
β
ββ2026β Residue 133
NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter)Pathogenic
Robinow-Sorauf syndrome|TWIST1-related craniosynostosis;Saethre-Chotzen syndrome|TWIST1-related craniosynostosis
β
β
ββ2026β Residue 71
NM_000474.4(TWIST1):c.416C>T (p.Pro139Leu)Likely pathogenic
TWIST1-related craniosynostosis;Saethre-Chotzen syndrome|Common craniosynostosis syndromes
β
β
ββ2025β Residue 139
NM_000474.4(TWIST1):c.476T>A (p.Leu159His)Likely pathogenic
Saethre-Chotzen syndrome|TWIST1-related disorder
β
β
ββ2025β Residue 159
NM_000474.4(TWIST1):c.396_416dup (p.Lys133_Pro139dup)Pathogenic
Saethre-Chotzen syndrome;TWIST1-related craniosynostosis|not provided
β
β
ββ2025β Residue 133
NM_000474.4(TWIST1):c.358C>G (p.Arg120Gly)Pathogenic
TWIST1-related craniosynostosis;Saethre-Chotzen syndrome|Saethre-Chotzen syndrome
β
β
ββ2025β Residue 120
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup)Pathogenic
Sweeney-Cox syndrome|Saethre-Chotzen syndrome;TWIST1-related craniosynostosis|Saethre-Chotzen syndrome|not provided|TWIST1-related disorder|TWIST1-related craniosynostosis
β
β
ββ2025β Residue 129
NM_000474.4(TWIST1):c.431G>A (p.Ser144Asn)Likely pathogenic
not provided|TWIST1-related disorder
β
β
ββ2025β Residue 144
NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter)Pathogenic
TWIST1-related craniosynostosis|Saethre-Chotzen syndrome|Neurodevelopmental delay|TWIST1-related craniosynostosis;Saethre-Chotzen syndrome|not provided
β
β
ββ2025β Residue 103
NM_000474.4(TWIST1):c.399_423dup (p.Lys142fs)Pathogenic
not provided|TWIST1-related craniosynostosis;Saethre-Chotzen syndrome
β
β
ββ2025β Residue 142
NM_000474.4(TWIST1):c.481C>T (p.Gln161Ter)Pathogenic
Sweeney-Cox syndrome|not provided|TWIST1-related craniosynostosis;Saethre-Chotzen syndrome
β
β
ββ2024β Residue 161
NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter)Pathogenic
Saethre-Chotzen syndrome|TWIST1-related craniosynostosis;Saethre-Chotzen syndrome|Inborn genetic diseases
β
β
ββ2024β Residue 103
NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter)Pathogenic
Saethre-Chotzen syndrome|TWIST1-related craniosynostosis;Saethre-Chotzen syndrome|not provided
β
β
ββ2024β Residue 126
NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer)Pathogenic
Saethre-Chotzen syndrome|Saethre-Chotzen syndrome;TWIST1-related craniosynostosis
β
β
ββ2024β Residue 140
NM_000474.4(TWIST1):c.454G>C (p.Ala152Pro)Likely pathogenic
TWIST1-related disorder|TWIST1-related craniosynostosis;Saethre-Chotzen syndrome
β
β
ββ2024β Residue 152
NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter)Pathogenic
Saethre-Chotzen syndrome;TWIST1-related craniosynostosis|not provided
β
β
ββ2024β Residue 101
NM_000474.4(TWIST1):c.132_142del (p.Ser45fs)Pathogenic
Saethre-Chotzen syndrome;TWIST1-related craniosynostosis|not provided
β
β
ββ2024β Residue 45
NM_000474.4(TWIST1):c.176del (p.Gly59fs)Pathogenic
TWIST1-related craniosynostosis;Saethre-Chotzen syndrome|not provided
β
β
ββ2024β Residue 59
NM_000474.4(TWIST1):c.419C>T (p.Ser140Leu)Likely pathogenic
TWIST1-related craniosynostosis;Saethre-Chotzen syndrome|not provided
β
β
ββ2024β Residue 140
NM_000474.4(TWIST1):c.465C>G (p.Tyr155Ter)Pathogenic
TWIST1-related craniosynostosis;Saethre-Chotzen syndrome|Saethre-Chotzen syndrome
β
β
ββ2023β Residue 155