NM_002755.4(MAP2K1):c.125T>G (p.Leu42Arg)Likely pathogenic
not provided|RASopathy
โ
โ
โ
โ2026โ Residue 42
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe)Pathogenic
Cardio-facio-cutaneous syndrome|not specified|Cardiofaciocutaneous syndrome 3|RASopathy
โ
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โ
โ2026โ Residue 42
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly)Pathogenic
not provided|Noonan syndrome|RASopathy
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โ
โ
โ2025โ Residue 203
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu)Likely pathogenic
not provided|Noonan syndrome 1;Cardiofaciocutaneous syndrome 3|Cardiofaciocutaneous syndrome 3|RASopathy
โ
โ
โ
โ2025โ Residue 108
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser)Pathogenic
not provided|Cardiofaciocutaneous syndrome 3|Noonan syndrome|RASopathy|Spitz Melanocytoma|Metastatic melanoma
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โ
โ
โ2025โ Residue 124
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)Pathogenic
not provided|Cardio-facio-cutaneous syndrome|Noonan syndrome and Noonan-related syndrome|RASopathy
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โ
โ
โ2024โ Residue 92
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser)Likely pathogenic
Cardiofaciocutaneous syndrome 3|not provided|Cardio-facio-cutaneous syndrome|RASopathy
โ
โ
โ
โ2024โ Residue 53
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp)Pathogenic
RASopathy|Cardiofaciocutaneous syndrome 3;Noonan syndrome 1|Noonan syndrome|Cardiofaciocutaneous syndrome 3
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โ
โ
โ2020โ Residue 122
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln)Likely pathogenic
Cardio-facio-cutaneous syndrome|RASopathy
โ
โ
โ
โ2017โ Residue 57
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)Pathogenic
Cardiofaciocutaneous syndrome 3|not provided|Cardio-facio-cutaneous syndrome|RASopathy|Noonan syndrome 1;Cardiofaciocutaneous syndrome 3|Melorheostosis|Noonan syndrome 1|MAP2K1-related disorder|Cardiovascular phenotype|Neoplasm|Cardiofaciocutaneous syndrome 1
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โ
โ
โ2017โ Residue 130
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His)Likely pathogenic
Cardio-facio-cutaneous syndrome|Inborn genetic diseases|not provided
โ
โ
โ
โ2017โ Residue 130
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)Pathogenic
RASopathy|Cardiofaciocutaneous syndrome 3|not provided|Cardio-facio-cutaneous syndrome|Autism spectrum disorder|Cardio-facio-cutaneous syndrome;Noonan syndrome|MAP2K1-related RASopathy|Cardiovascular phenotype|Melorheostosis;Cardiofaciocutaneous syndrome 3|Cardiofaciocutaneous syndrome 1|Embryonal rhabdomyosarcoma
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โ2017โ Residue 67
NM_002755.4(MAP2K1):c.355C>T (p.His119Tyr)Pathogenic
not provided|MAP2K1-related disorder|RASopathy|MAP2K1-related rasopathy-like syndrome|Cardiofaciocutaneous syndrome 3
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โ
โโ2026โ Residue 119
NM_002755.4(MAP2K1):c.527G>T (p.Gly176Val)Pathogenic
Cardiofaciocutaneous syndrome 3|not provided
โ
โ
โโ2025โ Residue 176
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn)Pathogenic
Cardio-facio-cutaneous syndrome|Melorheostosis|not provided|Vascular malformation
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โ
โโ2025โ Residue 57
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val)Pathogenic
Cardiofaciocutaneous syndrome 3|not provided|Cardio-facio-cutaneous syndrome|RASopathy
โ
โ
โโ2024โ Residue 128
NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro)Pathogenic
Non-small cell lung carcinoma|Melorheostosis|not provided|Neoplasm|Extracranial arteriovenous malformation
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โ
โโ2024โ Residue 56
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu)Pathogenic
Cardio-facio-cutaneous syndrome|not provided|Cardiofaciocutaneous syndrome 3|Noonan syndrome and Noonan-related syndrome|RASopathy
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โ
โโ2024โ Residue 124
NM_002755.4(MAP2K1):c.175_177del (p.Lys59del)Likely pathogenic
not provided|Cardiofaciocutaneous syndrome 3|RASopathy
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โ
โโ2024โ Residue 59
NM_002755.4(MAP2K1):c.306_311del (p.Ile103_Lys104del)Pathogenic
Vascular malformation|not provided
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โโ2023โ Residue 103