NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys)Pathogenic
Cardiofaciocutaneous syndrome 4|not provided|Cardio-facio-cutaneous syndrome|RASopathy
β
β
β
β2024β Residue 57
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys)Likely pathogenic
RASopathy|Cardio-facio-cutaneous syndrome|not provided|Noonan syndrome;Cardio-facio-cutaneous syndrome|Noonan syndrome 1
β
β
β
β2024β Residue 134
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His)Pathogenic
Cardio-facio-cutaneous syndrome|Cardiofaciocutaneous syndrome 4|not provided|RASopathy|Noonan syndrome and Noonan-related syndrome|MAP2K2-related disorder|Noonan syndrome 1
β
β
β
β2024β Residue 134
NM_030662.4(MAP2K2):c.383C>A (p.Pro128Gln)Pathogenic
Cardiofaciocutaneous syndrome 4|not provided|Cardio-facio-cutaneous syndrome|RASopathy
β
β
β
β2024β Residue 128
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)Likely pathogenic
RASopathy|not provided|Cardio-facio-cutaneous syndrome|Cardio-facio-cutaneous syndrome;Noonan syndrome
β
β
β
β2017β Residue 207
NM_030662.4(MAP2K2):c.169T>G (p.Phe57Val)Pathogenic
Cardiofaciocutaneous syndrome 4|Cardio-facio-cutaneous syndrome
β
β
β
β2017β Residue 57
NM_030662.4(MAP2K2):c.190G>T (p.Val64Phe)Likely pathogenic
not provided|RASopathy
β
β
ββ2025β Residue 64
NM_030662.4(MAP2K2):c.169T>C (p.Phe57Leu)Pathogenic
not provided|RASopathy|Cardiofaciocutaneous syndrome 4
β
β
ββ2025β Residue 57
NM_030662.4(MAP2K2):c.383C>T (p.Pro128Leu)Pathogenic
Castleman-Kojima disease|MAP2K2-related disorder|Cardiofaciocutaneous syndrome 4|not provided
β
β
ββ2025β Residue 128
NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp)Pathogenic
Cardiofaciocutaneous syndrome 4|RASopathy|not provided|Cardiovascular phenotype
β
β
ββ2024β Residue 132
NM_030662.4(MAP2K2):c.183A>C (p.Lys61Asn)Pathogenic
not provided|Cardiofaciocutaneous syndrome 4|RASopathy
β
β
ββ2022β Residue 61
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu)Pathogenic
not provided|Cardiofaciocutaneous syndrome 1|RASopathy|Cardiofaciocutaneous syndrome 4
β
β
ββ2022β Residue 61
NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp)Pathogenic
Cardiofaciocutaneous syndrome 4|Cardio-facio-cutaneous syndrome|RASopathy
β
β
ββ2021β Residue 126
NM_030662.4(MAP2K2):c.395G>T (p.Gly132Val)Pathogenic
RASopathy
β
βββ2025β Residue 132
NM_030662.4(MAP2K2):c.334C>T (p.Arg112Trp)Likely pathogenic
RASopathy
β
βββ2025β Residue 112
NM_030662.4(MAP2K2):c.180G>C (p.Gln60His)Likely pathogenic
Cardiofaciocutaneous syndrome 4
β
βββ2024β Residue 60
NM_030662.4(MAP2K2):c.368A>C (p.His123Pro)Likely pathogenic
not provided
β
βββ2023β Residue 123
NM_030662.4(MAP2K2):c.167C>A (p.Ala56Asp)Likely pathogenic
Cardiofaciocutaneous syndrome 4
β
βββ2023β Residue 56
NM_030662.4(MAP2K2):c.171T>A (p.Phe57Leu)Pathogenic
RASopathy
β
βββ2018β Residue 57
NM_030662.4(MAP2K2):c.210_212del (p.Asp71del)Pathogenic
Smith-Magenis Syndrome-like
β
βββ2016β Residue 71