NM_006494.4(ERF):c.427del (p.Arg143fs)Pathogenic
Inborn genetic diseases|TWIST1-related craniosynostosis|not provided
β
β
ββ2025β Residue 143
NM_006494.4(ERF):c.652C>T (p.Arg218Ter)Pathogenic
not provided|TWIST1-related craniosynostosis|Noonan Syndrome-like developmental disorder|Inborn genetic diseases
β
β
ββ2025β Residue 218
NM_006494.4(ERF):c.256C>T (p.Arg86Cys)Pathogenic
Lambdoidal craniosynostosis|not provided|TWIST1-related craniosynostosis|ERF-related disorder|Inborn genetic diseases
β
β
ββ2025β Residue 86
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs)Pathogenic
not provided|Lambdoidal craniosynostosis|Neurodevelopmental disorder|TWIST1-related craniosynostosis|Chitayat syndrome|ERF-related disorder|Noonan Syndrome-like developmental disorder|Noonan-like syndrome|Noonan syndrome
β
β
ββ2025β Residue 401
NM_006494.4(ERF):c.911_913del (p.Ser304del)Pathogenic
TWIST1-related craniosynostosis|not provided
β
β
ββ2025β Residue 304
NM_006494.4(ERF):c.891_892del (p.Gly299fs)Pathogenic
Lambdoidal craniosynostosis|TWIST1-related craniosynostosis|Inborn genetic diseases|See cases|not provided|Chitayat syndrome|Chitayat syndrome;Lambdoidal craniosynostosis|Noonan-like syndrome
β
β
ββ2025β Residue 299
NM_006494.4(ERF):c.547C>T (p.Arg183Ter)Pathogenic
Lambdoidal craniosynostosis|TWIST1-related craniosynostosis|Lambdoidal craniosynostosis;Chitayat syndrome|Noonan-like syndrome|not provided
β
β
ββ2025β Residue 183
NM_006494.4(ERF):c.157G>A (p.Gly53Arg)Likely pathogenic
See cases|Noonan-like syndrome
β
β
ββ2025β Residue 53
NM_006494.4(ERF):c.697C>T (p.Arg233Ter)Pathogenic
Inborn genetic diseases|not provided|Lambdoidal craniosynostosis|Noonan Syndrome-like developmental disorder
β
β
ββ2024β Residue 233
NM_006494.4(ERF):c.266A>G (p.Tyr89Cys)Pathogenic
Chitayat syndrome|not provided|Inborn genetic diseases
β
β
ββ2024β Residue 89
NM_006494.4(ERF):c.787C>T (p.Gln263Ter)Pathogenic
Inborn genetic diseases|not provided
β
β
ββ2024β Residue 263
NM_006494.4(ERF):c.566_567del (p.Asp188_Cys189insTer)Pathogenic
TWIST1-related craniosynostosis|Lambdoidal craniosynostosis
β
β
ββ2024β Residue 188
NM_006494.4(ERF):c.41G>A (p.Trp14Ter)Likely pathogenic
Lambdoidal craniosynostosis|ERF-related disorder
β
β
ββ2024β Residue 14
NM_006494.4(ERF):c.619C>T (p.Arg207Ter)Pathogenic
TWIST1-related craniosynostosis|Inborn genetic diseases|not provided|Noonan Syndrome-like developmental disorder
β
β
ββ2023β Residue 207
NM_006494.4(ERF):c.397_407del (p.Pro133fs)Likely pathogenic
not provided
β
β
ββ2023β Residue 133
NM_006494.4(ERF):c.71C>G (p.Ser24Ter)Pathogenic
TWIST1-related craniosynostosis|Lambdoidal craniosynostosis;Chitayat syndrome
β
β
ββ2021β Residue 24
NM_006494.4(ERF):c.1072_1073del (p.Pro358fs)Pathogenic
not provided|TWIST1-related craniosynostosis
β
β
ββ2020β Residue 358
NM_006494.4(ERF):c.679dup (p.His227fs)Pathogenic
Inborn genetic diseases
β
βββ2025β Residue 227
NM_006494.4(ERF):c.103G>T (p.Glu35Ter)Pathogenic
Common craniosynostosis syndromes
β
βββ2025β Residue 35
NM_006494.4(ERF):c.879dup (p.Pro294fs)Likely pathogenic
Lambdoidal craniosynostosis
β
βββ2025β Residue 294