NM_001791.4(CDC42):c.556C>T (p.Arg186Cys)Pathogenic
not provided|CDC42-associated inflammatory disease|Familial hemophagocytic lymphohistiocytosis
β
β
ββ2025β Residue 186
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys)Pathogenic
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|not provided|Inborn genetic diseases|Abnormal facial shape;Neurodevelopmental abnormality;Postnatal growth retardation;Abnormality of the immune system;Abnormality of blood and blood-forming tissues
β
β
ββ2025β Residue 64
NM_001791.4(CDC42):c.203G>A (p.Arg68Gln)Pathogenic
not provided|Postnatal growth retardation;Neurodevelopmental abnormality;Abnormality of the immune system;Abnormality of blood and blood-forming tissues;Abnormal facial shape|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
β
β
ββ2024β Residue 68
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys)Pathogenic
Inborn genetic diseases|not provided|Neurodevelopmental disorder|Postnatal growth retardation;Abnormality of blood and blood-forming tissues;Neurodevelopmental abnormality;Abnormal facial shape;Abnormality of the immune system|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|CDC42-related disorder
β
β
ββ2024β Residue 23
NM_001791.4(CDC42):c.511G>A (p.Glu171Lys)Pathogenic
Noonan-like syndrome|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|Neurodevelopmental abnormality;Abnormal facial shape;Abnormality of blood and blood-forming tissues;Abnormality of the immune system;Postnatal growth retardation|not provided
β
β
ββ2024β Residue 171
NM_001791.4(CDC42):c.196A>G (p.Arg66Gly)Pathogenic
Inborn genetic diseases|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|Abnormality of the immune system;Abnormality of blood and blood-forming tissues;Neurodevelopmental abnormality;Postnatal growth retardation;Abnormal facial shape|not provided
β
β
ββ2023β Residue 66
NM_001791.4(CDC42):c.476C>T (p.Ala159Val)Pathogenic
not provided|Neurodevelopmental abnormality;Postnatal growth retardation;Abnormal facial shape;Abnormality of blood and blood-forming tissues;Abnormality of the immune system
β
β
ββ2022β Residue 159
NM_001791.4(CDC42):c.247T>C (p.Ser83Pro)Pathogenic
not provided|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|Neurodevelopmental abnormality;Postnatal growth retardation;Abnormal facial shape;Abnormality of blood and blood-forming tissues;Abnormality of the immune system
β
β
ββ2022β Residue 83
NM_001791.4(CDC42):c.124G>A (p.Val42Ile)Likely pathogenic
not provided
β
β
ββ2020β Residue 42
NM_001791.4(CDC42):c.242G>T (p.Cys81Phe)Likely pathogenic
not provided|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|Abnormality of the immune system;Postnatal growth retardation;Neurodevelopmental abnormality;Abnormal facial shape;Abnormality of blood and blood-forming tissues
β
β
ββ2016β Residue 81
NM_001791.4(CDC42):c.346C>G (p.Gln116Glu)Likely pathogenic
not provided
β
βββ2025β Residue 116
NM_001791.4(CDC42):c.291G>T (p.Trp97Cys)Likely pathogenic
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
β
βββ2024β Residue 97
NM_001791.4(CDC42):c.227A>T (p.Asp76Val)Likely pathogenic
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
β
βββ2023β Residue 76
NM_001791.4(CDC42):c.70A>C (p.Thr24Pro)Likely pathogenic
not provided
β
βββ2022β Residue 24
NM_001791.4(CDC42):c.563G>A (p.Cys188Tyr)Pathogenic
not provided
β
βββ2021β Residue 188
NM_001791.4(CDC42):c.509A>G (p.Asp170Gly)Likely pathogenic
See cases
β
βββ2021β Residue 170
NM_001791.4(CDC42):c.67T>A (p.Tyr23Asn)Likely pathogenic
not provided
β
βββ2020β Residue 23
NM_001791.4(CDC42):c.67T>C (p.Tyr23His)Likely pathogenic
Congenital heart disease
β
βββ2020β Residue 23
NM_001791.4(CDC42):c.137T>C (p.Ile46Thr)Likely pathogenic
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
β
βββ2018β Residue 46
NM_001791.4(CDC42):c.62T>C (p.Ile21Thr)Likely pathogenic
not provided|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|Neurodevelopmental abnormality;Postnatal growth retardation;Abnormality of blood and blood-forming tissues;Abnormality of the immune system;Abnormal facial shape
β
βββ2016β Residue 21