MAP2K1 — 706 ClinVar variants

All ClinVar germline MAP2K1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 224 flagged for review →

21 Pathogenic · 7 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 24 Conflicting · 48 Benign · 14 Benign/Likely benign · 271 Likely benign · 294 Uncertain significance

Full MAP2K1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 224

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

MAP2K1 p.Pro89Thr Likely pathogenic Single submitter
cardiofaciocutaneous syndrome 3

Predictors agree, ClinVar conflicts 7

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

MAP2K1 p.Ala390Thr Conflicting Single submitter
Cardiovascular phenotype
MAP2K1 p.Ala391Val Conflicting Single submitter
Cardiovascular phenotype
MAP2K1 p.Leu115Val Conflicting Single submitter
Cardiovascular phenotype
MAP2K1 p.Leu50Pro Conflicting Single submitter
RASopathy
MAP2K1 p.Val127Met Conflicting Single submitter
RASopathy
MAP2K1 p.Val393Ile Conflicting Single submitter
cardiofaciocutaneous syndrome 3
MAP2K1 p.Val93Ile Conflicting Single submitter
melorheostosis

Predictors lean, ClinVar uncertain 165

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 165

MAP2K1 p.Ala19Gly Uncertain significance Multiple submitters
melorheostosis
MAP2K1 p.Ala268Val Uncertain significance Multiple submitters
Cardiovascular phenotype
MAP2K1 p.Ala26Thr Uncertain significance Multiple submitters
MAP2K1 p.Ala32Val Uncertain significance Multiple submitters
Cardiovascular phenotype
MAP2K1 p.Ala347Thr Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Arg108Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
MAP2K1 p.Arg291Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
MAP2K1 p.Arg305Gln Uncertain significance Multiple submitters
melorheostosis
MAP2K1 p.Asn199Ser Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Asn345Ser Uncertain significance Multiple submitters
cardiofaciocutaneous syndrome 3
MAP2K1 p.Asp16Glu Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Asp217Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
MAP2K1 p.Asp267Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
MAP2K1 p.Gln164Lys Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Gln243His Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Gln354His Uncertain significance Multiple submitters
melorheostosis
MAP2K1 p.Glu367Lys Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Gly237Arg Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Ile107Val Uncertain significance Multiple submitters
Cardiovascular phenotype
MAP2K1 p.Ile317Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
MAP2K1 p.Ile379Val Uncertain significance Multiple submitters
melorheostosis
MAP2K1 p.Leu271Arg Uncertain significance Multiple submitters
MAP2K1 p.Leu271Val Uncertain significance Multiple submitters
Cardiovascular phenotype
MAP2K1 p.Leu313Phe Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Leu332Arg Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Lys168Arg Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Lys324Gln Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Lys344Gln Uncertain significance Multiple submitters
cardiofaciocutaneous syndrome 3
MAP2K1 p.Lys4Arg Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Lys88Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
MAP2K1 p.Met143Val Uncertain significance Multiple submitters
melorheostosis
MAP2K1 p.Met302Leu Uncertain significance Multiple submitters
MAP2K1-related disorder
MAP2K1 p.Met356Thr Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Met356Val Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Met94Val Uncertain significance Multiple submitters
Cardiovascular phenotype
MAP2K1 p.Phe334Val Uncertain significance Multiple submitters
Cardiovascular phenotype
MAP2K1 p.Pro13Ser Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Pro15Ala Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Pro15Arg Uncertain significance Multiple submitters
cardiofaciocutaneous syndrome 3
MAP2K1 p.Pro266Ser Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Ser170Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
MAP2K1 p.Ser24Thr Uncertain significance Multiple submitters
melorheostosis
MAP2K1 p.Ser298Thr Uncertain significance Multiple submitters
cardiofaciocutaneous syndrome 3
MAP2K1 p.Ser72Asn Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Thr292Ile Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Thr292Ser Uncertain significance Multiple submitters
melorheostosis
MAP2K1 p.Ala14Val Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ala158Ser Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ala19Thr Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ala257Val Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ala268Thr Uncertain significance Single submitter
MAP2K1 p.Ala26Val Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ala284Asp Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ala347Gly Uncertain significance Single submitter
Cardiovascular phenotype
MAP2K1 p.Ala390Pro Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ala52Thr Uncertain significance Single submitter
cardiofaciocutaneous syndrome 3
MAP2K1 p.Ala52Val Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ala95Ser Uncertain significance Single submitter
RASopathy
MAP2K1 p.Arg108Gly Uncertain significance Single submitter
Cardiovascular phenotype
MAP2K1 p.Arg181Met Uncertain significance Single submitter
RASopathy
MAP2K1 p.Arg227Ser Uncertain significance Single submitter
MAP2K1 p.Arg289Thr Uncertain significance Single submitter
RASopathy
MAP2K1 p.Arg291Lys Uncertain significance Single submitter
RASopathy
MAP2K1 p.Arg349Ser Uncertain significance Single submitter
RASopathy
MAP2K1 p.Arg349Thr Uncertain significance Single submitter
Cardiovascular phenotype
MAP2K1 p.Arg49His Uncertain significance Single submitter
RASopathy
MAP2K1 p.Asn122His Uncertain significance Single submitter
RASopathy
MAP2K1 p.Asn29Ser Uncertain significance Single submitter
RASopathy
MAP2K1 p.Asn382Lys Uncertain significance Single submitter
Cardiovascular phenotype
MAP2K1 p.Asp245Asn Uncertain significance Single submitter
MAP2K1 p.Asp267Val Uncertain significance Single submitter
RASopathy
MAP2K1 p.Asp282Gly Uncertain significance Single submitter
Cardiovascular phenotype
MAP2K1 p.Asp336Gly Uncertain significance Single submitter
MAP2K1 p.Asp66Glu Uncertain significance Single submitter
RASopathy
MAP2K1 p.Cys142Arg Uncertain significance Single submitter
MAP2K1 p.Cys277Ser Uncertain significance Single submitter
RASopathy
MAP2K1 p.Cys341Ser Uncertain significance Single submitter
RASopathy
MAP2K1 p.Gln10Leu Uncertain significance Single submitter
MAP2K1 p.Gln164His Uncertain significance Single submitter
Cardiovascular phenotype
MAP2K1 p.Gln335Arg Uncertain significance Single submitter
RASopathy
MAP2K1 p.Glu138Lys Uncertain significance Single submitter
MAP2K1 p.Glu163Gly Uncertain significance Single submitter
MAP2K1 p.Glu255Lys Uncertain significance Single submitter
MAP2K1 p.Glu27Gly Uncertain significance Single submitter
MAP2K1 p.Glu285Lys Uncertain significance Single submitter
RASopathy
MAP2K1 p.Glu38Asp Uncertain significance Single submitter
RASopathy
MAP2K1 p.Gly210Arg Uncertain significance Single submitter
MAP2K1 p.Gly213Arg Uncertain significance Single submitter
RASopathy
MAP2K1 p.Gly22Arg Uncertain significance Single submitter
RASopathy
MAP2K1 p.Gly22Glu Uncertain significance Single submitter
MAP2K1 p.Gly259Glu Uncertain significance Single submitter
RASopathy
MAP2K1 p.Gly80Asp Uncertain significance Single submitter
RASopathy
MAP2K1 p.Gly80Ser Uncertain significance Single submitter
RASopathy
MAP2K1 p.His100Asp Uncertain significance Single submitter
RASopathy
MAP2K1 p.His119Arg Uncertain significance Single submitter
RASopathy
MAP2K1 p.His358Tyr Uncertain significance Single submitter
RASopathy
MAP2K1 p.His389Arg Uncertain significance Single submitter
cardiofaciocutaneous syndrome 3
MAP2K1 p.His389Gln Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ile103Ser Uncertain significance Single submitter
MAP2K1 p.Ile111Thr Uncertain significance Single submitter
MAP2K1 p.Ile161Thr Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ile161Val Uncertain significance Single submitter
Noonan syndrome and Noonan-related syndrome
MAP2K1 p.Ile174Val Uncertain significance Single submitter
MAP2K1 p.Ile186Phe Uncertain significance Single submitter
MAP2K1 p.Ile186Val Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ile204Met Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ile310Met Uncertain significance Single submitter
Cardiovascular phenotype
MAP2K1 p.Ile343Met Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ile71Ser Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ile71Thr Uncertain significance Single submitter
RASopathy
MAP2K1 p.Leu11Val Uncertain significance Single submitter
RASopathy
MAP2K1 p.Leu177Met Uncertain significance Single submitter
RASopathy
MAP2K1 p.Leu177Val Uncertain significance Single submitter
Inborn genetic diseases
MAP2K1 p.Leu206Pro Uncertain significance Single submitter
MAP2K1 p.Leu325Arg Uncertain significance Single submitter
MAP2K1 p.Leu332Gln Uncertain significance Single submitter
RASopathy
MAP2K1 p.Lys104Arg Uncertain significance Single submitter
RASopathy
MAP2K1 p.Lys185Glu Uncertain significance Single submitter
RASopathy
MAP2K1 p.Lys192Arg Uncertain significance Single submitter
MAP2K1 p.Met143Leu Uncertain significance Single submitter
cardiofaciocutaneous syndrome 3
MAP2K1 p.Met302Ile Uncertain significance Single submitter
RASopathy
MAP2K1 p.Met308Val Uncertain significance Single submitter
MAP2K1 p.Phe53Leu Uncertain significance Single submitter
RASopathy
MAP2K1 p.Pro105Arg Uncertain significance Single submitter
Cardiovascular phenotype
MAP2K1 p.Pro124Thr Uncertain significance Single submitter
cardiofaciocutaneous syndrome 3
MAP2K1 p.Pro13Leu Uncertain significance Single submitter
RASopathy
MAP2K1 p.Pro15Ser Uncertain significance Single submitter
RASopathy
MAP2K1 p.Pro193Leu Uncertain significance Single submitter
MAP2K1 p.Pro288Ser Uncertain significance Single submitter
MAP2K1 p.Pro290Thr Uncertain significance Single submitter
RASopathy
MAP2K1 p.Pro293Ala Uncertain significance Single submitter
Cardiovascular phenotype
MAP2K1 p.Pro293Ser Uncertain significance Single submitter
MAP2K1 p.Pro2Arg Uncertain significance Single submitter
RASopathy
MAP2K1 p.Pro306Leu Uncertain significance Single submitter
RASopathy
MAP2K1 p.Pro307Ser Uncertain significance Single submitter
RASopathy
MAP2K1 p.Pro323Ser Uncertain significance Single submitter
Cardiovascular phenotype
MAP2K1 p.Pro89Ser Uncertain significance Single submitter
RASopathy
MAP2K1 p.Pro8Ser Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ser135Asn Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ser18Phe Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ser218Pro Uncertain significance Single submitter
MAP2K1 p.Ser222Pro Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ser222Tyr Uncertain significance Single submitter
MAP2K1 p.Ser231Leu Uncertain significance Single submitter
MAP2K1 p.Ser231Trp Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ser24Gly Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ser327Asn Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ser327Gly Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ser385Gly Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ser86Phe Uncertain significance Single submitter

Predictors split 51

The independent predictors disagree with each other — read with care.

MAP2K1 p.Asn122Asp Pathogenic Expert panel
RASopathy
MAP2K1 p.Ala372Val Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Arg47Gln Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Gly294Arg Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Gly301Arg Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Ile196Val Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Lys84Arg Uncertain significance Multiple submitters
Noonan syndrome and Noonan-related syndrome
MAP2K1 p.Ser252Ala Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Ser377Phe Uncertain significance Multiple submitters
Noonan syndrome and Noonan-related syndrome
MAP2K1 p.Tyr300Cys Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Val211Ile Uncertain significance Multiple submitters
RASopathy
MAP2K1 p.Ala309Thr Uncertain significance Single submitter
MAP2K1 p.Arg181Lys Uncertain significance Single submitter
RASopathy
MAP2K1 p.Arg295Gly Uncertain significance Single submitter
Cardiovascular phenotype
MAP2K1 p.Arg295Ser Uncertain significance Single submitter
RASopathy
MAP2K1 p.Asn122Ser Uncertain significance Single submitter
RASopathy
MAP2K1 p.Asp336Glu Uncertain significance Single submitter
RASopathy
MAP2K1 p.Asp351Glu Uncertain significance Single submitter
RASopathy
MAP2K1 p.Gln58Arg Uncertain significance Single submitter
RASopathy
MAP2K1 p.Glu312Asp Uncertain significance Single submitter
Cardiovascular phenotype
MAP2K1 p.Glu51Asp Uncertain significance Single submitter
RASopathy
MAP2K1 p.Glu69Lys Uncertain significance Single submitter
RASopathy
MAP2K1 p.Gly128Ala Pathogenic Single submitter
cardiofaciocutaneous syndrome 3
MAP2K1 p.Gly128Asp Uncertain significance Single submitter
RASopathy
MAP2K1 p.Gly380Ser Conflicting Single submitter
Noonan syndrome 1
MAP2K1 p.Gly91Arg Uncertain significance Single submitter
RASopathy
MAP2K1 p.His184Leu Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ile141Val Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ile216Thr Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ile216Val Uncertain significance Single submitter
cardiofaciocutaneous syndrome 3
MAP2K1 p.Ile317Val Uncertain significance Single submitter
Cardiovascular phenotype
MAP2K1 p.Leu342Val Uncertain significance Single submitter
MAP2K1 p.Leu352Val Uncertain significance Single submitter
RASopathy
MAP2K1 p.Leu375Phe Uncertain significance Single submitter
RASopathy
MAP2K1 p.Met143Thr Uncertain significance Single submitter
cardiofaciocutaneous syndrome 3
MAP2K1 p.Met219Ile Uncertain significance Single submitter
MAP2K1 p.Met256Thr Likely pathogenic Single submitter
cardiofaciocutaneous syndrome 3
MAP2K1 p.Phe275Leu Uncertain significance Single submitter
Cardiovascular phenotype
MAP2K1 p.Phe371Leu Uncertain significance Single submitter
RASopathy
MAP2K1 p.Phe53Tyr Likely pathogenic Single submitter
cardiofaciocutaneous syndrome 3
MAP2K1 p.Phe83Leu Uncertain significance Single submitter
RASopathy
MAP2K1 p.Pro307Leu Uncertain significance Single submitter
MAP2K1 p.Pro321Arg Uncertain significance Single submitter
MAP2K1 p.Pro321Thr Uncertain significance Single submitter
MAP2K1 p.Ser18Cys Uncertain significance Single submitter
MAP2K1 p.Ser244Ala Likely pathogenic Single submitter
MAP2K1 p.Ser331Gly Uncertain significance Single submitter
MAP2K1 p.Ser377Cys Uncertain significance Single submitter
RASopathy
MAP2K1 p.Ser72Arg Uncertain significance Single submitter
RASopathy
MAP2K1 p.Thr386Ile Uncertain significance Single submitter
RASopathy
MAP2K1 p.Thr388Ile Uncertain significance Single submitter
RASopathy

All MAP2K1 variants

Pathogenic 21

p.Asn122Asp Expert panel RASopathy ⚠
p.Asp67Asn Expert panel cardiofaciocutaneous syndrome
p.Glu203Gly Expert panel RASopathy
p.Leu42Phe Expert panel RASopathy
p.Leu92Arg Expert panel RASopathy
p.Pro124Ser Expert panel RASopathy
p.Tyr130Cys Expert panel cardiofaciocutaneous syndrome
p.Gln56Pro Multiple submitters non-small cell lung carcinoma
p.His119Tyr Multiple submitters RASopathy
p.Glu102_Ile103del Single submitter
p.Glu102Gly Single submitter RASopathy
p.Glu203Gln Single submitter cardiofaciocutaneous syndrome 3
p.Glu203Val Single submitter
p.Gly128Ala Single submitter cardiofaciocutaneous syndrome 3 ⚠
p.Ile111Asn Single submitter RASopathy
p.Leu54Pro Single submitter RASopathy
p.Lys57Met Single submitter
p.Pro124Arg Single submitter
p.Tyr130Asn Single submitter cardiofaciocutaneous syndrome 3
p.Lys57Glu No assertion criteria melorheostosis
p.Pro124Gln No assertion criteria cardiofaciocutaneous syndrome 3

Pathogenic/Likely pathogenic 7

p.Gln58_Glu62del Multiple submitters vascular malformation
p.Glu203Ala Multiple submitters cardiofaciocutaneous syndrome 3
p.Gly128Val Multiple submitters cardiofaciocutaneous syndrome
p.Gly176Val Multiple submitters cardiofaciocutaneous syndrome 3
p.Ile103_Lys104del Multiple submitters vascular malformation
p.Lys57Asn Multiple submitters vascular malformation
p.Pro124Leu Multiple submitters MAP2K1-related disorder

Likely pathogenic 27

p.Arg108Leu Expert panel RASopathy
p.Leu42Arg Expert panel RASopathy
p.Lys57Gln Expert panel RASopathy
p.Phe53Ser Expert panel RASopathy
p.Tyr130His Expert panel cardiofaciocutaneous syndrome
p.Glu203Lys Multiple submitters Inborn genetic diseases
p.Lys59del Multiple submitters RASopathy
p.Phe129Leu Multiple submitters cardiofaciocutaneous syndrome 3
p.Ala132Val Single submitter
p.Ala52Pro Single submitter cardiofaciocutaneous syndrome 3
p.Asp67Gly Single submitter cardiofaciocutaneous syndrome 3
p.Gln56_Val60del Single submitter vascular malformation
p.Glu102Val Single submitter RASopathy
p.Glu62_Asp66del Single submitter
p.Gly128Arg Single submitter MAP2K1-related disorder
p.Leu50_Glu51insLeu Single submitter cardiofaciocutaneous syndrome 3
p.Met256Thr Single submitter cardiofaciocutaneous syndrome 3 ⚠
p.Phe53Tyr Single submitter cardiofaciocutaneous syndrome 3 ⚠
p.Pro124Ala Single submitter cardiofaciocutaneous syndrome 3
p.Pro89Thr Single submitter cardiofaciocutaneous syndrome 3 ⚠
p.Ser212Thr Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation
p.Ser244Ala Single submitter ⚠
p.Ser244Thr Single submitter
p.Val60_Lys64del Single submitter
p.Gln46Leu No assertion criteria cardiofaciocutaneous syndrome
p.Ile103Thr No assertion criteria Noonan syndrome
p.Ile112del No assertion criteria MAP2K1-related disorder

Conflicting classifications of pathogenicity 24

c.1023-4T>A Single submitter cardiofaciocutaneous syndrome 3
c.1068+18G>A Single submitter RASopathy
c.292-8T>A Single submitter Noonan syndrome and Noonan-related syndrome
c.516+3_516+10dup Single submitter RASopathy
c.693+4T>G Single submitter RASopathy
c.694-5T>G Single submitter RASopathy
c.895+15G>A Single submitter RASopathy
c.895+19C>A Single submitter RASopathy
c.896-7T>C Single submitter RASopathy
c.961-10G>C Single submitter melorheostosis
p.Ala390Thr Single submitter Cardiovascular phenotype ⚠
p.Ala391Val Single submitter Cardiovascular phenotype ⚠
p.Asn122= Single submitter RASopathy
p.Asp66= Single submitter Cardiovascular phenotype
p.Gly380Ser Single submitter Noonan syndrome 1 ⚠
p.Leu115Val Single submitter Cardiovascular phenotype ⚠
p.Leu352= Single submitter Cardiovascular phenotype
p.Leu50Pro Single submitter RASopathy ⚠
p.Pro321Ser Single submitter Noonan syndrome 1
p.Val127Met Single submitter RASopathy ⚠
p.Val173= Single submitter RASopathy
p.Val224= Single submitter MAP2K1-related disorder
p.Val393Ile Single submitter cardiofaciocutaneous syndrome 3 ⚠
p.Val93Ile Single submitter melorheostosis ⚠

Benign 48

c.1023-8C>T Expert panel RASopathy
c.1068+12_1068+15del Expert panel RASopathy
c.438+8A>T Expert panel RASopathy
c.694-12TC[4] Expert panel RASopathy
p.Ala268= Expert panel RASopathy
p.Ala283Val Expert panel RASopathy
p.Ala309= Expert panel RASopathy
p.Gly237= Expert panel RASopathy
p.Ile216= Expert panel RASopathy
p.Ile379= Expert panel RASopathy
p.Pro105= Expert panel RASopathy
c.291+22G>C Multiple submitters cardiofaciocutaneous syndrome 3
c.292-13del Multiple submitters RASopathy
c.438+20C>T Multiple submitters cardiofaciocutaneous syndrome 3
c.439-67C>T Multiple submitters
c.569-118G>A Multiple submitters
c.569-13C>T Multiple submitters RASopathy
c.80+33C>G Multiple submitters
c.80+54G>C Multiple submitters
c.960+68C>T Multiple submitters
c.*308C>A Multiple submitters
c.1023-43C>T Single submitter
c.1069-113C>T Single submitter
c.1069-144C>T Single submitter
c.291+127_291+129dup Single submitter
c.291+128_291+129dup Single submitter
c.291+199C>T Single submitter
c.292-133A>C Single submitter
c.516+191G>A Single submitter
c.516+22del Single submitter RASopathy
c.516+230_516+231insAG Single submitter
c.516+28A>G Single submitter
c.517-253C>T Single submitter
c.517-311C>A Single submitter
c.693+275T>A Single submitter
c.693+50G>C Single submitter
c.80+195del Single submitter
c.80+28G>C Single submitter
c.80+33C>T Single submitter
c.80+85del Single submitter
c.80+87del Single submitter
c.81-13del Single submitter RASopathy
c.895+181A>G Single submitter
c.896-291G>C Single submitter
c.961-254_961-251del Single submitter
c.-631C>T Single submitter
c.*50G>A Single submitter
c.*917dup Single submitter

Benign/Likely benign 14

c.1068+19G>A Multiple submitters RASopathy
c.1069-16G>A Multiple submitters RASopathy
c.291+18A>T Multiple submitters RASopathy
c.292-3C>T Multiple submitters Cardiovascular phenotype
c.439-19C>A Multiple submitters RASopathy
c.439-8G>A Multiple submitters RASopathy
c.569-19T>A Multiple submitters RASopathy
c.-2A>G Multiple submitters Noonan syndrome and Noonan-related syndrome
p.Ala52= Multiple submitters Cardiovascular phenotype
p.Gly79= Multiple submitters Cardiovascular phenotype
p.Leu92= Multiple submitters RASopathy
p.Lys59= Multiple submitters RASopathy
p.Ser212= Multiple submitters Cardiovascular phenotype
p.Tyr300= Multiple submitters Cardiovascular phenotype

Likely benign 271

c.1068+9A>G Expert panel RASopathy
c.896-5T>C Expert panel RASopathy
p.Ala366= Expert panel RASopathy
p.Thr23= Expert panel RASopathy
c.1022+10C>T Multiple submitters RASopathy
c.1023-17G>C Multiple submitters RASopathy
c.1023-20C>T Multiple submitters RASopathy
c.1068+159C>G Multiple submitters
c.1068+17C>T Multiple submitters RASopathy
c.1069-12C>A Multiple submitters RASopathy
c.291+14_291+20delinsTCTCACCAATCACCA Multiple submitters Noonan syndrome 1
c.291+15A>C Multiple submitters RASopathy
c.291+17T>C Multiple submitters RASopathy
c.291+19A>C Multiple submitters RASopathy
c.291+20C>T Multiple submitters RASopathy
c.292-4C>G Multiple submitters RASopathy
c.439-18T>C Multiple submitters RASopathy
c.517-139G>T Multiple submitters
c.517-4C>T Multiple submitters RASopathy
c.517-9T>A Multiple submitters RASopathy
c.568+11A>T Multiple submitters RASopathy
c.568+9T>C Multiple submitters RASopathy
c.569-8C>T Multiple submitters RASopathy
c.693+10G>A Multiple submitters RASopathy
c.693+20T>C Multiple submitters cardiofaciocutaneous syndrome 3
c.80+9G>A Multiple submitters RASopathy
c.896-5del Multiple submitters RASopathy
c.960+12C>T Multiple submitters RASopathy
c.-547C>T Multiple submitters
p.Ala257= Multiple submitters Cardiovascular phenotype
p.Ala283= Multiple submitters RASopathy
p.Arg189= Multiple submitters Cardiovascular phenotype
p.Arg49= Multiple submitters RASopathy
p.Asn29= Multiple submitters Cardiovascular phenotype
p.Asn319= Multiple submitters Cardiovascular phenotype
p.Asp303= Multiple submitters RASopathy
p.Gln164= Multiple submitters Cardiovascular phenotype
p.Gln243= Multiple submitters Cardiovascular phenotype
p.Gln278= Multiple submitters Cardiovascular phenotype
p.Gln335= Multiple submitters Noonan syndrome and Noonan-related syndrome
p.Glu120= Multiple submitters Cardiovascular phenotype
p.Glu182= Multiple submitters RASopathy
p.Glu280= Multiple submitters RASopathy
p.Glu367= Multiple submitters RASopathy
p.Gly137= Multiple submitters RASopathy
p.Gly210= Multiple submitters Cardiovascular phenotype
p.Gly328= Multiple submitters RASopathy
p.Gly380= Multiple submitters Cardiovascular phenotype
p.Gly392= Multiple submitters Cardiovascular phenotype
p.Ile111= Multiple submitters Cardiovascular phenotype
p.Ile126= Multiple submitters Cardiovascular phenotype
p.Ile204= Multiple submitters
p.Leu215= Multiple submitters RASopathy
p.Leu313= Multiple submitters Cardiovascular phenotype
p.Leu375= Multiple submitters RASopathy
p.Leu375Ile Multiple submitters RASopathy
p.Lys183= Multiple submitters Cardiovascular phenotype
p.Lys3= Multiple submitters RASopathy
p.Lys4= Multiple submitters Cardiovascular phenotype
p.Lys5= Multiple submitters RASopathy
p.Lys88= Multiple submitters Cardiovascular phenotype
p.Phe223= Multiple submitters RASopathy
p.Pro124= Multiple submitters Cardiovascular phenotype
p.Pro13= Multiple submitters Cardiovascular phenotype
p.Pro2= Multiple submitters RASopathy
p.Pro264= Multiple submitters RASopathy
p.Pro346= Multiple submitters Cardiovascular phenotype
p.Ser135= Multiple submitters RASopathy
p.Thr378= Multiple submitters RASopathy
p.Tyr179= Multiple submitters RASopathy
p.Val154= Multiple submitters Cardiovascular phenotype
p.Val329= Multiple submitters RASopathy
p.Val85= Multiple submitters Cardiovascular phenotype
p.Val93= Multiple submitters Cardiovascular phenotype
c.1022+12C>T Single submitter RASopathy
c.1022+16G>A Single submitter RASopathy
c.1022+9G>C Single submitter RASopathy
c.1023-17G>A Single submitter RASopathy
c.1023-201del Single submitter
c.1023-7C>T Single submitter RASopathy
c.1023-9dup Single submitter RASopathy
c.1068+13_1068+15del Single submitter RASopathy
c.1068+18G>C Single submitter RASopathy
c.1068+18G>T Single submitter RASopathy
c.1068+19G>T Single submitter RASopathy
c.1069-10T>C Single submitter RASopathy
c.1069-11C>A Single submitter RASopathy
c.1069-142C>G Single submitter
c.1069-145C>T Single submitter
c.1069-17C>T Single submitter RASopathy
c.1069-6A>G Single submitter RASopathy
c.1069-7C>T Single submitter RASopathy
c.1069-7del Single submitter RASopathy
c.1069-8A>T Single submitter RASopathy
c.291+14_291+15del Single submitter
c.291+14_291+15inv Single submitter
c.291+14_291+16del Single submitter RASopathy
c.291+14G>T Single submitter RASopathy
c.291+16_291+17insC Single submitter
c.291+18A>C Single submitter
c.291+20_291+21insCAATCACCA Single submitter
c.291+9G>T Single submitter RASopathy
c.292-12A>G Single submitter
c.292-13_292-3del Single submitter RASopathy
c.292-18T>C Single submitter RASopathy
c.292-20T>C Single submitter RASopathy
c.438+11_438+18del Single submitter RASopathy
c.438+12C>T Single submitter RASopathy
c.438+13C>T Single submitter RASopathy
c.438+15C>T Single submitter RASopathy
c.438+16_438+17del Single submitter RASopathy
c.438+16T>G Single submitter RASopathy
c.438+17C>T Single submitter
c.438+192C>T Single submitter
c.438+9C>A Single submitter RASopathy
c.438+9C>T Single submitter RASopathy
c.439-168G>A Single submitter
c.439-16G>T Single submitter
c.439-7A>T Single submitter RASopathy
c.439-8G>C Single submitter RASopathy
c.439-8G>T Single submitter RASopathy
c.439-9C>T Single submitter RASopathy
c.516+11del Single submitter RASopathy
c.516+12A>G Single submitter RASopathy
c.516+12A>T Single submitter RASopathy
c.516+13T>A Single submitter RASopathy
c.516+13T>C Single submitter RASopathy
c.516+16A>G Single submitter RASopathy
c.516+176A>G Single submitter
c.516+17G>A Single submitter RASopathy
c.516+283G>A Single submitter
c.516+7A>G Single submitter
c.516+9G>C Single submitter RASopathy
c.517-10T>C Single submitter RASopathy
c.517-13C>G Single submitter RASopathy
c.517-16A>T Single submitter RASopathy
c.517-230A>C Single submitter
c.517-4C>G Single submitter
c.568+14005G>A Single submitter
c.568+14023A>C Single submitter
c.568+198C>T Single submitter
c.568+9T>A Single submitter RASopathy
c.569-11C>T Single submitter RASopathy
c.569-12_569-8del Single submitter RASopathy
c.569-18A>G Single submitter RASopathy
c.569-49_569-6del Single submitter RASopathy
c.569-4G>A Single submitter RASopathy
c.569-6C>T Single submitter
c.693+10G>C Single submitter RASopathy
c.693+11A>G Single submitter RASopathy
c.693+13G>A Single submitter RASopathy
c.693+14T>G Single submitter RASopathy
c.693+234C>A Single submitter
c.694-11C>T Single submitter RASopathy
c.694-13_694-10del Single submitter RASopathy
c.694-148G>C Single submitter
c.694-15C>T Single submitter
c.694-16T>A Single submitter RASopathy
c.694-16T>C Single submitter RASopathy
c.694-17G>C Single submitter
c.694-19C>T Single submitter RASopathy
c.694-20del Single submitter RASopathy
c.694-4G>A Single submitter RASopathy
c.694-7C>T Single submitter RASopathy
c.694-9C>T Single submitter RASopathy
c.80+14_80+19del Single submitter RASopathy
c.80+14G>A Single submitter
c.80+16G>C Single submitter RASopathy
c.80+18_80+19del Single submitter RASopathy
c.81-11C>T Single submitter RASopathy
c.81-12A>G Single submitter RASopathy
c.81-13C>T Single submitter RASopathy
c.81-20T>G Single submitter RASopathy
c.81-4A>G Single submitter RASopathy
c.81-6G>A Single submitter RASopathy
c.81-7G>C Single submitter RASopathy
c.81-9T>G Single submitter RASopathy
c.895+12G>A Single submitter RASopathy
c.895+13G>A Single submitter RASopathy
c.895+19_895+26del Single submitter RASopathy
c.895+19C>T Single submitter RASopathy
c.895+42G>A Single submitter
c.896-283G>A Single submitter
c.896-284dup Single submitter
c.896-6T>A Single submitter RASopathy
c.896-6T>C Single submitter RASopathy
c.960+11C>T Single submitter RASopathy
c.960+14G>A Single submitter RASopathy
c.960+297A>G Single submitter
c.960+7dup Single submitter RASopathy
c.961-12A>G Single submitter RASopathy
c.961-18C>T Single submitter RASopathy
c.961-19T>C Single submitter RASopathy
c.961-6T>C Single submitter RASopathy
c.961-8_961-7del Single submitter RASopathy
c.961-8G>T Single submitter RASopathy
c.*28C>G Single submitter
p.Ala132= Single submitter RASopathy
p.Ala32= Single submitter RASopathy
p.Ala359= Single submitter Cardiovascular phenotype
p.Ala372= Single submitter RASopathy
p.Ala390= Single submitter Cardiovascular phenotype
p.Arg201= Single submitter RASopathy
p.Arg291= Single submitter RASopathy
p.Arg349= Single submitter RASopathy
p.Arg47= Single submitter RASopathy
p.Arg96= Single submitter RASopathy
p.Asn109= Single submitter Cardiovascular phenotype
p.Asn12= Single submitter
p.Asn195= Single submitter RASopathy
p.Asn21= Single submitter RASopathy
p.Asn345= Single submitter RASopathy
p.Asn382= Single submitter RASopathy
p.Asn78= Single submitter RASopathy
p.Asp147= Single submitter Cardiovascular phenotype
p.Asp370= Single submitter RASopathy
p.Asp65= Single submitter RASopathy
p.Cys121= Single submitter RASopathy
p.Glu114= Single submitter RASopathy
p.Glu270= Single submitter RASopathy
p.Glu51= Single submitter RASopathy
p.Gly128= Single submitter Cardiovascular phenotype
p.Gly176= Single submitter RASopathy
p.Gly202= Single submitter RASopathy
p.Gly276= Single submitter RASopathy
p.Gly373= Single submitter Cardiovascular phenotype
p.His184= Single submitter
p.His188= Single submitter RASopathy
p.Ile107= Single submitter RASopathy
p.Ile186= Single submitter RASopathy
p.Leu11= Single submitter RASopathy
p.Leu115= Single submitter RASopathy
p.Leu151= Single submitter RASopathy
p.Leu155= Single submitter
p.Leu197= Single submitter RASopathy
p.Leu206= Single submitter Cardiovascular phenotype
p.Leu251= Single submitter Cardiovascular phenotype
p.Leu314= Single submitter RASopathy
p.Leu33= Single submitter RASopathy
p.Leu381= Single submitter RASopathy
p.Leu42= Single submitter
p.Leu63= Single submitter
p.Lys175= Single submitter RASopathy
p.Lys36= Single submitter RASopathy
p.Lys362= Single submitter RASopathy
p.Phe334= Single submitter Cardiovascular phenotype
p.Phe83= Single submitter RASopathy
p.Pro15= Single submitter Cardiovascular phenotype
p.Pro287= Single submitter Cardiovascular phenotype
p.Pro288= Single submitter RASopathy
p.Pro290= Single submitter RASopathy
p.Pro293= Single submitter RASopathy
p.Pro307= Single submitter RASopathy
p.Pro323= Single submitter Cardiovascular phenotype
p.Pro326= Single submitter Cardiovascular phenotype
p.Pro387= Single submitter Cardiovascular phenotype
p.Ser140= Single submitter RASopathy
p.Ser200= Single submitter RASopathy
p.Ser222= Single submitter RASopathy
p.Ser364= Single submitter Cardiovascular phenotype
p.Thr238= Single submitter RASopathy
p.Thr286= Single submitter RASopathy
p.Tyr229= Single submitter Cardiovascular phenotype
p.Val191= Single submitter Cardiovascular phenotype
p.Val20= Single submitter RASopathy
p.Val211= Single submitter RASopathy
p.Val242= Single submitter RASopathy
p.Val258= Single submitter RASopathy
p.Val369= Single submitter RASopathy
p.Arg108Trp No assertion criteria Noonan syndrome
p.Pro193Ala No assertion criteria Noonan syndrome

Uncertain significance 294

c.1022+6T>G Multiple submitters cardiofaciocutaneous syndrome 3
c.516+1G>A Multiple submitters cardiofaciocutaneous syndrome 3
c.516+3G>A Multiple submitters RASopathy
c.568+1G>A Multiple submitters
c.568+6A>G Multiple submitters RASopathy
c.80+5G>A Multiple submitters RASopathy
c.*17A>T Multiple submitters cardiofaciocutaneous syndrome 3
p.Ala19Gly Multiple submitters melorheostosis ⚠
p.Ala268Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala26Thr Multiple submitters ⚠
p.Ala32Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala347Thr Multiple submitters RASopathy ⚠
p.Ala372Val Multiple submitters RASopathy ⚠
p.Arg108Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg291Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg305Gln Multiple submitters melorheostosis ⚠
p.Arg47Gln Multiple submitters RASopathy ⚠
p.Arg47Ter Multiple submitters RASopathy
p.Asn199Ser Multiple submitters RASopathy ⚠
p.Asn345Ser Multiple submitters cardiofaciocutaneous syndrome 3 ⚠
p.Asp16Glu Multiple submitters RASopathy ⚠
p.Asp217Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp267Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln164Lys Multiple submitters RASopathy ⚠
p.Gln243His Multiple submitters RASopathy ⚠
p.Gln354His Multiple submitters melorheostosis ⚠
p.Glu367Lys Multiple submitters RASopathy ⚠
p.Gly237Arg Multiple submitters RASopathy ⚠
p.Gly281del Multiple submitters Cardiovascular phenotype
p.Gly294Arg Multiple submitters RASopathy ⚠
p.Gly301Arg Multiple submitters RASopathy ⚠
p.Ile107Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile196Val Multiple submitters RASopathy ⚠
p.Ile310Val Multiple submitters RASopathy
p.Ile317Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile379Val Multiple submitters melorheostosis ⚠
p.Leu271Arg Multiple submitters ⚠
p.Leu271Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu313Phe Multiple submitters RASopathy ⚠
p.Leu332Arg Multiple submitters RASopathy ⚠
p.Lys168Arg Multiple submitters RASopathy ⚠
p.Lys324Gln Multiple submitters RASopathy ⚠
p.Lys344Gln Multiple submitters cardiofaciocutaneous syndrome 3 ⚠
p.Lys4Arg Multiple submitters RASopathy ⚠
p.Lys84Arg Multiple submitters Noonan syndrome and Noonan-related syndrome ⚠
p.Lys88Arg Multiple submitters Cardiovascular phenotype ⚠
p.Met143Val Multiple submitters melorheostosis ⚠
p.Met302Leu Multiple submitters MAP2K1-related disorder ⚠
p.Met356Thr Multiple submitters RASopathy ⚠
p.Met356Val Multiple submitters RASopathy ⚠
p.Met94Val Multiple submitters Cardiovascular phenotype ⚠
p.Phe334Val Multiple submitters Cardiovascular phenotype ⚠
p.Pro13Ser Multiple submitters RASopathy ⚠
p.Pro15Ala Multiple submitters RASopathy ⚠
p.Pro15Arg Multiple submitters cardiofaciocutaneous syndrome 3 ⚠
p.Pro265Ser Multiple submitters RASopathy
p.Pro266Ser Multiple submitters RASopathy ⚠
p.Ser170= Multiple submitters RASopathy
p.Ser170Asn Multiple submitters Cardiovascular phenotype ⚠
p.Ser24Thr Multiple submitters melorheostosis ⚠
p.Ser252Ala Multiple submitters RASopathy ⚠
p.Ser298Thr Multiple submitters cardiofaciocutaneous syndrome 3 ⚠
p.Ser377Phe Multiple submitters Noonan syndrome and Noonan-related syndrome ⚠
p.Ser72Asn Multiple submitters RASopathy ⚠
p.Thr292Ile Multiple submitters RASopathy ⚠
p.Thr292Ser Multiple submitters melorheostosis ⚠
p.Tyr300Cys Multiple submitters RASopathy ⚠
p.Val211Ile Multiple submitters RASopathy ⚠
c.1022+3A>G Single submitter RASopathy
c.1023-11_1023-4del Single submitter RASopathy
c.1023-4T>G Single submitter Noonan syndrome and Noonan-related syndrome
c.1068_1068+1delinsCA Single submitter
c.1068+5G>A Single submitter cardiofaciocutaneous syndrome 3
c.1069-3C>T Single submitter RASopathy
c.291+14_291+19delinsTCTCAC Single submitter
c.292-2A>G Single submitter
c.438+1_438+5del Single submitter
c.438+4T>A Single submitter RASopathy
c.438+4T>C Single submitter RASopathy
c.439-14A>G Single submitter
c.439-19C>G Single submitter cardiofaciocutaneous syndrome 3
c.439-296C>T Single submitter
c.516+2T>C Single submitter
c.517-1G>T Single submitter RASopathy
c.517-2A>T Single submitter
c.568+14001A>G Single submitter
c.568+14010_568+14032del Single submitter
c.568+2T>C Single submitter cardiofaciocutaneous syndrome 3
c.568+4A>G Single submitter cardiofaciocutaneous syndrome 3
c.568+6_568+8del Single submitter RASopathy
c.569-3C>T Single submitter RASopathy
c.693+4T>C Single submitter RASopathy
c.80+2T>C Single submitter RASopathy
c.80+6T>C Single submitter RASopathy
c.81-3C>T Single submitter RASopathy
c.896-3T>C Single submitter RASopathy
c.896-9A>G Single submitter
c.960+1G>T Single submitter RASopathy
c.960+4dup Single submitter Cardiovascular phenotype
c.960+5G>A Single submitter RASopathy
c.961-2A>G Single submitter RASopathy
c.961-61_997dup Single submitter
c.-7G>A Single submitter cardiofaciocutaneous syndrome 3
c.*63C>T Single submitter
p.Ala14= Single submitter
p.Ala14Val Single submitter RASopathy ⚠
p.Ala158Ser Single submitter RASopathy ⚠
p.Ala19Thr Single submitter RASopathy ⚠
p.Ala257Gly Single submitter
p.Ala257Val Single submitter RASopathy ⚠
p.Ala268Thr Single submitter ⚠
p.Ala26Val Single submitter RASopathy ⚠
p.Ala284Asp Single submitter RASopathy ⚠
p.Ala309Thr Single submitter ⚠
p.Ala347Gly Single submitter Cardiovascular phenotype ⚠
p.Ala390Pro Single submitter RASopathy ⚠
p.Ala52Thr Single submitter cardiofaciocutaneous syndrome 3 ⚠
p.Ala52Val Single submitter RASopathy ⚠
p.Ala95Ser Single submitter RASopathy ⚠
p.Arg108Gly Single submitter Cardiovascular phenotype ⚠
p.Arg181Lys Single submitter RASopathy ⚠
p.Arg181Met Single submitter RASopathy ⚠
p.Arg201His Single submitter
p.Arg227Ser Single submitter ⚠
p.Arg289Thr Single submitter RASopathy ⚠
p.Arg291Lys Single submitter RASopathy ⚠
p.Arg295Gly Single submitter Cardiovascular phenotype ⚠
p.Arg295Ser Single submitter RASopathy ⚠
p.Arg349Ser Single submitter RASopathy ⚠
p.Arg349Thr Single submitter Cardiovascular phenotype ⚠
p.Arg49His Single submitter RASopathy ⚠
p.Asn122His Single submitter RASopathy ⚠
p.Asn122Ser Single submitter RASopathy ⚠
p.Asn29Ser Single submitter RASopathy ⚠
p.Asn382Lys Single submitter Cardiovascular phenotype ⚠
p.Asp245Asn Single submitter ⚠
p.Asp267Val Single submitter RASopathy ⚠
p.Asp282Gly Single submitter Cardiovascular phenotype ⚠
p.Asp336Glu Single submitter RASopathy ⚠
p.Asp336Gly Single submitter ⚠
p.Asp351Glu Single submitter RASopathy ⚠
p.Asp43del Single submitter RASopathy
p.Asp65Gly Single submitter RASopathy
p.Asp66Glu Single submitter RASopathy ⚠
p.Cys142Arg Single submitter ⚠
p.Cys277Ser Single submitter RASopathy ⚠
p.Cys341Ser Single submitter RASopathy ⚠
p.Gln10Leu Single submitter ⚠
p.Gln164His Single submitter Cardiovascular phenotype ⚠
p.Gln335Arg Single submitter RASopathy ⚠
p.Gln335Ter Single submitter
p.Gln45His Single submitter
p.Gln46fs Single submitter RASopathy
p.Gln58Arg Single submitter RASopathy ⚠
p.Glu138Lys Single submitter ⚠
p.Glu163Gly Single submitter ⚠
p.Glu255Lys Single submitter ⚠
p.Glu27= Single submitter RASopathy
p.Glu27Gly Single submitter ⚠
p.Glu285Lys Single submitter RASopathy ⚠
p.Glu312Asp Single submitter Cardiovascular phenotype ⚠
p.Glu38Asp Single submitter RASopathy ⚠
p.Glu44_Leu54del Single submitter RASopathy
p.Glu51Asp Single submitter RASopathy ⚠
p.Glu69Lys Single submitter RASopathy ⚠
p.Gly128Asp Single submitter RASopathy ⚠
p.Gly128fs Single submitter RASopathy
p.Gly210Arg Single submitter ⚠
p.Gly213Arg Single submitter RASopathy ⚠
p.Gly22Arg Single submitter RASopathy ⚠
p.Gly22Glu Single submitter ⚠
p.Gly259Glu Single submitter RASopathy ⚠
p.Gly294= Single submitter RASopathy
p.Gly301Glu Single submitter RASopathy
p.Gly328fs Single submitter RASopathy
p.Gly80Asp Single submitter RASopathy ⚠
p.Gly80Ser Single submitter RASopathy ⚠
p.Gly91Arg Single submitter RASopathy ⚠
p.His100Asp Single submitter RASopathy ⚠
p.His119Arg Single submitter RASopathy ⚠
p.His145= Single submitter
p.His184Leu Single submitter RASopathy ⚠
p.His358Tyr Single submitter RASopathy ⚠
p.His389Arg Single submitter cardiofaciocutaneous syndrome 3 ⚠
p.His389Gln Single submitter RASopathy ⚠
p.Ile103Ser Single submitter ⚠
p.Ile111Thr Single submitter ⚠
p.Ile141Val Single submitter RASopathy ⚠
p.Ile161Thr Single submitter RASopathy ⚠
p.Ile161Val Single submitter Noonan syndrome and Noonan-related syndrome ⚠
p.Ile174Val Single submitter ⚠
p.Ile186Phe Single submitter ⚠
p.Ile186Val Single submitter RASopathy ⚠
p.Ile204Met Single submitter RASopathy ⚠
p.Ile216Thr Single submitter RASopathy ⚠
p.Ile216Val Single submitter cardiofaciocutaneous syndrome 3 ⚠
p.Ile310Met Single submitter Cardiovascular phenotype ⚠
p.Ile317Val Single submitter Cardiovascular phenotype ⚠
p.Ile343Met Single submitter RASopathy ⚠
p.Ile361_Lys362delinsGlu Single submitter
p.Ile71Ser Single submitter RASopathy ⚠
p.Ile71Thr Single submitter RASopathy ⚠
p.Leu11Val Single submitter RASopathy ⚠
p.Leu177Met Single submitter RASopathy ⚠
p.Leu177Val Single submitter Inborn genetic diseases ⚠
p.Leu206Pro Single submitter ⚠
p.Leu325Arg Single submitter ⚠
p.Leu332Gln Single submitter RASopathy ⚠
p.Leu342Val Single submitter ⚠
p.Leu352Val Single submitter RASopathy ⚠
p.Leu375Phe Single submitter RASopathy ⚠
p.Lys104Arg Single submitter RASopathy ⚠
p.Lys185Glu Single submitter RASopathy ⚠
p.Lys192Arg Single submitter ⚠
p.Lys269Ter Single submitter RASopathy
p.Lys344fs Single submitter RASopathy
p.Lys64_Asp65insGluGluLeuLys Single submitter RASopathy
p.Met143Leu Single submitter cardiofaciocutaneous syndrome 3 ⚠
p.Met143Thr Single submitter cardiofaciocutaneous syndrome 3 ⚠
p.Met219Ile Single submitter ⚠
p.Met302fs Single submitter
p.Met302Ile Single submitter RASopathy ⚠
p.Met308Leu Single submitter
p.Met308Val Single submitter ⚠
p.Phe275Leu Single submitter Cardiovascular phenotype ⚠
p.Phe371Leu Single submitter RASopathy ⚠
p.Phe53Leu Single submitter RASopathy ⚠
p.Phe83Leu Single submitter RASopathy ⚠
p.Pro105Arg Single submitter Cardiovascular phenotype ⚠
p.Pro124Thr Single submitter cardiofaciocutaneous syndrome 3 ⚠
p.Pro13Leu Single submitter RASopathy ⚠
p.Pro15Ser Single submitter RASopathy ⚠
p.Pro193Leu Single submitter ⚠
p.Pro266del Single submitter RASopathy
p.Pro287_Pro288insSerArgCysGlnGlyAlaGlyAlaAspValTrpValProGlyGlyArgArgCysGlyTer Single submitter
p.Pro288Ser Single submitter ⚠
p.Pro290Thr Single submitter RASopathy ⚠
p.Pro293Ala Single submitter Cardiovascular phenotype ⚠
p.Pro293Ser Single submitter ⚠
p.Pro2Arg Single submitter RASopathy ⚠
p.Pro306Leu Single submitter RASopathy ⚠
p.Pro307Leu Single submitter ⚠
p.Pro307Ser Single submitter RASopathy ⚠
p.Pro321Arg Single submitter ⚠
p.Pro321Thr Single submitter ⚠
p.Pro323Ser Single submitter Cardiovascular phenotype ⚠
p.Pro326fs Single submitter
p.Pro89Ser Single submitter RASopathy ⚠
p.Pro8Ser Single submitter RASopathy ⚠
p.Ser135Asn Single submitter RASopathy ⚠
p.Ser18Cys Single submitter ⚠
p.Ser18Phe Single submitter RASopathy ⚠
p.Ser218Pro Single submitter ⚠
p.Ser222Pro Single submitter RASopathy ⚠
p.Ser222Tyr Single submitter ⚠
p.Ser231Leu Single submitter ⚠
p.Ser231Trp Single submitter RASopathy ⚠
p.Ser24Gly Single submitter RASopathy ⚠
p.Ser298= Single submitter RASopathy
p.Ser327Asn Single submitter RASopathy ⚠
p.Ser327Gly Single submitter RASopathy ⚠
p.Ser331Gly Single submitter ⚠
p.Ser364Phe Single submitter
p.Ser364Tyr Single submitter Cardiovascular phenotype
p.Ser377Cys Single submitter RASopathy ⚠
p.Ser385fs Single submitter Cardiovascular phenotype
p.Ser385Gly Single submitter RASopathy ⚠
p.Ser72Arg Single submitter RASopathy ⚠
p.Ser86Phe Single submitter ⚠
p.Ser86Thr Single submitter RASopathy ⚠
p.Ter394CysextTer? Single submitter RASopathy
p.Ter394LeuextTer? Single submitter RASopathy
p.Ter394TyrextTer? Single submitter
p.Thr178Ile Single submitter RASopathy ⚠
p.Thr28Asn Single submitter RASopathy ⚠
p.Thr292Ala Single submitter RASopathy ⚠
p.Thr378Ile Single submitter RASopathy ⚠
p.Thr386Ile Single submitter RASopathy ⚠
p.Thr388Ile Single submitter RASopathy ⚠
p.Trp247Arg Single submitter ⚠
p.Tyr300His Single submitter RASopathy ⚠
p.Val154Ile Single submitter RASopathy ⚠
p.Val20Ile Single submitter RASopathy ⚠
p.Val242Met Single submitter RASopathy ⚠
p.Val258Ile Single submitter RASopathy ⚠
p.Val258Phe Single submitter RASopathy
p.Val279Ala Single submitter RASopathy ⚠
p.Val357Ile Single submitter cardiofaciocutaneous syndrome 3 ⚠
p.Val393del Single submitter RASopathy
p.Val60Gly Single submitter ⚠
p.Asp16fs No assertion criteria
p.Gln58His No assertion criteria cardiofaciocutaneous syndrome 3
p.Leu197Val No assertion criteria ⚠
p.Lys5Asn No assertion criteria MAP2K1-related disorder