RAF1 — 1320 ClinVar variants
All ClinVar germline RAF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 528 flagged for review →
13 Pathogenic · 15 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 76 Conflicting · 72 Benign · 26 Benign/Likely benign · 463 Likely benign · 631 Uncertain significance
Full RAF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 528
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 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
RAF1 p.His611Asn
Likely pathogenic
Single submitter
RAF1-related disorder
- RAF1 p.His611Leu Likely pathogenic Single submitter
-
RAF1 p.Thr269Ile
Likely pathogenic
Single submitter
Left ventricular noncompaction cardiomyopathy
Predictors agree, ClinVar conflicts 27
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RAF1 p.Arg216His
Conflicting
Single submitter
Cardiovascular phenotype
-
RAF1 p.Arg282Gln
Conflicting
Single submitter
Cardiovascular phenotype
-
RAF1 p.Arg318Gln
Conflicting
Single submitter
RASopathy
-
RAF1 p.Arg41Gln
Conflicting
Single submitter
Noonan syndrome and Noonan-related syndrome
-
RAF1 p.Arg563Gln
Conflicting
Single submitter
RASopathy
-
RAF1 p.Asn416Ser
Conflicting
Single submitter
RASopathy
-
RAF1 p.Asn473Ser
Conflicting
Single submitter
Noonan syndrome 5
-
RAF1 p.Glu286Lys
Conflicting
Single submitter
RASopathy
-
RAF1 p.His103Gln
Conflicting
Single submitter
RASopathy
-
RAF1 p.Ile122Thr
Conflicting
Single submitter
Cardiovascular phenotype
-
RAF1 p.Ile154Met
Conflicting
Single submitter
Cardiovascular phenotype
-
RAF1 p.Ile201Val
Conflicting
Single submitter
Cardiovascular phenotype
-
RAF1 p.Lys18Arg
Conflicting
Single submitter
RASopathy
-
RAF1 p.Met214Thr
Conflicting
Single submitter
RASopathy
-
RAF1 p.Met350Ile
Conflicting
Single submitter
RASopathy
-
RAF1 p.Phe151Ser
Conflicting
Single submitter
RASopathy
-
RAF1 p.Pro384Ala
Conflicting
Single submitter
Noonan syndrome and Noonan-related syndrome
-
RAF1 p.Ser285Gly
Conflicting
Single submitter
RASopathy
-
RAF1 p.Ser306Leu
Conflicting
Single submitter
Cardiovascular phenotype
-
RAF1 p.Ser359Pro
Conflicting
Single submitter
Cardiovascular phenotype
-
RAF1 p.Thr310Ala
Conflicting
Single submitter
RASopathy
-
RAF1 p.Thr638Met
Conflicting
Single submitter
Cardiovascular phenotype
-
RAF1 p.Thr641Ala
Conflicting
Single submitter
Cardiovascular phenotype
-
RAF1 p.Tyr232Cys
Conflicting
Single submitter
Cardiovascular phenotype
-
RAF1 p.Tyr38Ser
Conflicting
Single submitter
Noonan syndrome and Noonan-related syndrome
-
RAF1 p.Val226Ile
Conflicting
Single submitter
Cardiovascular phenotype
-
RAF1 p.Val312Met
Conflicting
Single submitter
Cardiovascular phenotype
Predictors lean, ClinVar uncertain 344
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 344
-
RAF1 p.Arg398Leu
Uncertain significance
Expert panel
RASopathy
-
RAF1 p.Asp279Asn
Uncertain significance
Expert panel
RASopathy
-
RAF1 p.Ala119Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Ala208Glu
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Ala566Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Ala7Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Arg111Cys
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Arg111His
Uncertain significance
Multiple submitters
LEOPARD syndrome 2
-
RAF1 p.Arg143Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Arg215His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Arg398Cys
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Arg401Gln
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Arg401Trp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Arg450Gln
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Arg495Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Arg518Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Arg59His
Uncertain significance
Multiple submitters
Noonan syndrome
-
RAF1 p.Arg618Trp
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Arg644Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Asn13Asp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Asn13Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Asn161Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Asn299Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Asn522Lys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Asn552Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Asn617Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Asn617Thr
Uncertain significance
Multiple submitters
Noonan syndrome 5
-
RAF1 p.Asn635Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Asp273Glu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Asp279Glu
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Asp555His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Asp80Asn
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Cys637Tyr
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Gln325Pro
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Gln556Lys
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Glu104Lys
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Glu345Gln
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Glu393Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Glu622Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Gly202Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Gly24Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Gly356Ala
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Gly488Asp
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Gly562Val
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Gly564Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.His105Asp
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.His79Arg
Uncertain significance
Multiple submitters
dilated cardiomyopathy 1NN
-
RAF1 p.Ile11Phe
Uncertain significance
Multiple submitters
LEOPARD syndrome 2
-
RAF1 p.Ile201Thr
Uncertain significance
Multiple submitters
Noonan syndrome and Noonan-related syndrome
-
RAF1 p.Ile281Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Ile330Val
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Ile355Val
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Ile446Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Ile536Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- RAF1 p.Ile551Val Uncertain significance Multiple submitters
-
RAF1 p.Leu126Pro
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Leu194Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Leu212Trp
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Leu251His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Leu251Phe
Uncertain significance
Multiple submitters
Noonan syndrome 5
-
RAF1 p.Leu251Pro
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Leu300Met
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Leu476Phe
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Leu538Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Lys171Arg
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Lys171Thr
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Lys179Arg
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Lys483Ile
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Met224Ile
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Met265Val
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Met276Val
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Met542Thr
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Met581Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Met76Val
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Phe146Leu
Uncertain significance
Multiple submitters
RAF1-related disorder
-
RAF1 p.Phe151Leu
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Phe22Cys
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Phe360Ser
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Pro197Ala
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Pro225Ala
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Pro290His
Uncertain significance
Multiple submitters
RAF1-related disorder
-
RAF1 p.Pro313Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Pro382Ser
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Pro63Leu
Uncertain significance
Multiple submitters
Noonan syndrome 5
-
RAF1 p.Pro643Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Pro643Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Pro646Ser
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Ser12Gly
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Ser227Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Ser228Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Ser243Cys
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Ser283Asn
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Ser285Arg
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Ser295Thr
Uncertain significance
Multiple submitters
Noonan syndrome 5
-
RAF1 p.Ser612Cys
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Ser612Thr
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Thr10Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Thr116Ser
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Thr145Met
Uncertain significance
Multiple submitters
Noonan syndrome 5
-
RAF1 p.Thr178Ser
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Thr213Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Thr268Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Thr268Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Thr310Ile
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Thr31Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Thr452Met
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Thr506Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Thr641Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Tyr565Phe
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Val21Ala
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Val312Leu
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Val33Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Val403Met
Uncertain significance
Multiple submitters
Noonan syndrome 5
-
RAF1 p.Val516Met
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Val537Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Val647Ile
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Val98Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- RAF1 p.Ala110Val Uncertain significance Single submitter
-
RAF1 p.Ala119Thr
Uncertain significance
Single submitter
RASopathy
- RAF1 p.Ala142Ser Uncertain significance Single submitter
-
RAF1 p.Ala208Pro
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Ala208Val
Uncertain significance
Single submitter
RASopathy
- RAF1 p.Ala237Gly Uncertain significance Single submitter
-
RAF1 p.Ala237Val
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Ala288Val
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Ala292Thr
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Ala319Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
RAF1 p.Ala373Val
Uncertain significance
Single submitter
Noonan syndrome 5
-
RAF1 p.Ala513Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
- RAF1 p.Ala566Val Uncertain significance Single submitter
-
RAF1 p.Ala580Ser
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Ala586Pro
Uncertain significance
Single submitter
pituitary stalk interruption syndrome
-
RAF1 p.Ala629Gly
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Ala636Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
RAF1 p.Ala636Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
RAF1 p.Arg143Gly
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Arg164Leu
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Arg215Cys
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Arg216Cys
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Arg256Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
- RAF1 p.Arg282Gly Uncertain significance Single submitter
-
RAF1 p.Arg316Lys
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Arg354Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
RAF1 p.Arg398His
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Arg401Gly
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Arg450Leu
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Arg450Trp
Uncertain significance
Single submitter
RASopathy
- RAF1 p.Arg495His Uncertain significance Single submitter
- RAF1 p.Arg554Gly Uncertain significance Single submitter
-
RAF1 p.Arg583Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
Predictors split 154
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 154
-
RAF1 p.Arg256Ser
Likely pathogenic
Expert panel
RASopathy
-
RAF1 p.Gly361Ala
Pathogenic
Expert panel
RASopathy
-
RAF1 p.Pro261Ser
Pathogenic
Expert panel
Noonan syndrome
-
RAF1 p.Ser257Leu
Pathogenic
Expert panel
Noonan syndrome
-
RAF1 p.Ser257Pro
Likely pathogenic
Expert panel
RASopathy
-
RAF1 p.Ser259Ala
Pathogenic
Expert panel
RASopathy
-
RAF1 p.Ser259Thr
Pathogenic
Expert panel
RASopathy
-
RAF1 p.Thr260Ile
Uncertain significance
Expert panel
RASopathy
-
RAF1 p.Val263Gly
Likely pathogenic
Expert panel
RASopathy
-
RAF1 p.Ala237Thr
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Arg256Lys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Arg354Gln
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Arg554Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Arg627Gln
Uncertain significance
Multiple submitters
dilated cardiomyopathy 1NN
-
RAF1 p.Arg627Pro
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Arg627Trp
Uncertain significance
Multiple submitters
Noonan syndrome and Noonan-related syndrome
-
RAF1 p.Arg73Gln
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Asn262Asp
Likely pathogenic
Multiple submitters
RASopathy
-
RAF1 p.Asn262Ile
Likely pathogenic
Multiple submitters
RAF1-related disorder
-
RAF1 p.Asn262Lys
Pathogenic
Multiple submitters
RASopathy
-
RAF1 p.Asn262Ser
Likely pathogenic
Multiple submitters
RAF1-related disorder
-
RAF1 p.Asn553His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Asn71Ile
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Gln601Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Gln92His
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Gly14Asp
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Ile330Thr
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Ile448Val
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Leu149Phe
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Leu433Val
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Leu541Met
Uncertain significance
Multiple submitters
RASopathy
- RAF1 p.Leu570Val Uncertain significance Multiple submitters
-
RAF1 p.Lys590Glu
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Met560Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Phe61Leu
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Pro261Ala
Pathogenic/Likely pathogenic
Multiple submitters
RAF1-related disorder
-
RAF1 p.Pro261Arg
Pathogenic/Likely pathogenic
Multiple submitters
RAF1-related disorder
-
RAF1 p.Pro261His
Pathogenic/Likely pathogenic
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Pro261Leu
Pathogenic/Likely pathogenic
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Pro261Thr
Pathogenic/Likely pathogenic
Multiple submitters
Noonan syndrome and Noonan-related syndrome
-
RAF1 p.Pro505Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Pro600His
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Pro623Ser
Uncertain significance
Multiple submitters
LEOPARD syndrome 2
-
RAF1 p.Pro93Leu
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Pro93Ser
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Ser257Thr
Likely pathogenic
Multiple submitters
RASopathy
-
RAF1 p.Ser259Pro
Pathogenic/Likely pathogenic
Multiple submitters
RASopathy
-
RAF1 p.Ser604Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Thr260Lys
Pathogenic/Likely pathogenic
Multiple submitters
Noonan syndrome 5
-
RAF1 p.Thr260Pro
Pathogenic
Multiple submitters
RASopathy
-
RAF1 p.Thr303Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Thr57Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Trp187Arg
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Tyr340Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
RAF1 p.Tyr565Cys
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Val263Ala
Pathogenic/Likely pathogenic
Multiple submitters
RAF1-related disorder
-
RAF1 p.Val263Asp
Pathogenic/Likely pathogenic
Multiple submitters
RAF1-related disorder
-
RAF1 p.Val88Leu
Uncertain significance
Multiple submitters
RASopathy
-
RAF1 p.Ala118Val
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Ala150Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
RAF1 p.Ala346Asp
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Ala620Thr
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Arg164Gln
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Arg333Gly
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Arg333Leu
Uncertain significance
Single submitter
RASopathy
- RAF1 p.Arg333Pro Uncertain significance Single submitter
-
RAF1 p.Arg618Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
RAF1 p.Arg627Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
- RAF1 p.Asn140His Likely pathogenic Single submitter
- RAF1 p.Asn140Lys Uncertain significance Single submitter
- RAF1 p.Asn161Lys Likely pathogenic Single submitter
-
RAF1 p.Asn189Lys
Uncertain significance
Single submitter
Noonan syndrome and Noonan-related syndrome
-
RAF1 p.Asn262His
Conflicting
Single submitter
Cardiovascular phenotype
-
RAF1 p.Asn262Tyr
Conflicting
Single submitter
RASopathy
-
RAF1 p.Asn416Ile
Uncertain significance
Single submitter
Noonan syndrome 5
-
RAF1 p.Asn523Ser
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Asn553Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
RAF1 p.Asn617Ile
Conflicting
Single submitter
RASopathy
-
RAF1 p.Asn64Ser
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Asp132Glu
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Asp153His
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Asp186Asn
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Asp457Glu
Uncertain significance
Single submitter
Noonan syndrome and Noonan-related syndrome
- RAF1 p.Asp530Glu Uncertain significance Single submitter
- RAF1 p.Gln166Lys Uncertain significance Single submitter
-
RAF1 p.Gln451Lys
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Gln504Pro
Uncertain significance
Single submitter
Noonan syndrome 5
-
RAF1 p.Glu437Gln
Uncertain significance
Single submitter
RAF1-related disorder
-
RAF1 p.Glu595Ala
Uncertain significance
Single submitter
RASopathy
- RAF1 p.Gly6Arg Uncertain significance Single submitter
-
RAF1 p.His175Arg
Conflicting
Single submitter
Cardiovascular phenotype
-
RAF1 p.His264Arg
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.His264Asp
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.His264Leu
Conflicting
Single submitter
Cardiovascular phenotype
-
RAF1 p.His264Pro
Conflicting
Single submitter
RASopathy
-
RAF1 p.His626Arg
Conflicting
Single submitter
Inborn genetic diseases
-
RAF1 p.Ile376Thr
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Ile474Val
Uncertain significance
Single submitter
RASopathy
- RAF1 p.Leu101Arg Uncertain significance Single submitter
-
RAF1 p.Leu121Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
-
RAF1 p.Leu147Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
RAF1 p.Leu159Met
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Leu160Phe
Uncertain significance
Single submitter
Noonan syndrome 5
- RAF1 p.Leu397Met Likely pathogenic Single submitter
-
RAF1 p.Leu445Arg
Conflicting
Single submitter
Cardiovascular phenotype
- RAF1 p.Leu510Phe Uncertain significance Single submitter
-
RAF1 p.Leu603Met
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Leu609Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
-
RAF1 p.Leu86Phe
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Lys148Asn
Uncertain significance
Single submitter
Cardiovascular phenotype
-
RAF1 p.Lys329Glu
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Lys572Asn
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Lys575Asn
Uncertain significance
Single submitter
RASopathy
- RAF1 p.Lys575Thr Uncertain significance Single submitter
- RAF1 p.Lys87Asn Uncertain significance Single submitter
-
RAF1 p.Met412Leu
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Met442Val
Uncertain significance
Single submitter
Cardiovascular phenotype
- RAF1 p.Met512Thr Uncertain significance Single submitter
-
RAF1 p.Met76Thr
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Phe240Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
RAF1 p.Phe36Leu
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Phe525Leu
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Phe648Ser
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Pro30His
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Pro332Ala
Uncertain significance
Single submitter
RASopathy
- RAF1 p.Pro505Arg Uncertain significance Single submitter
-
RAF1 p.Pro505Thr
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Pro597Leu
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Pro600Arg
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Pro614Leu
Uncertain significance
Single submitter
RASopathy
- RAF1 p.Ser188Arg Uncertain significance Single submitter
-
RAF1 p.Ser257Trp
Conflicting
Single submitter
LEOPARD syndrome 2
-
RAF1 p.Ser267Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
RAF1 p.Ser499Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
- RAF1 p.Ser567Cys Uncertain significance Single submitter
- RAF1 p.Ser571Gly Uncertain significance Single submitter
-
RAF1 p.Ser604Phe
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Ser605Phe
Conflicting
Single submitter
Cardiovascular phenotype
-
RAF1 p.Thr138Ala
Uncertain significance
Single submitter
Cardiovascular phenotype
-
RAF1 p.Thr167Ala
Uncertain significance
Single submitter
Noonan syndrome 5
- RAF1 p.Thr167Ser Uncertain significance Single submitter
-
RAF1 p.Thr182Ile
Uncertain significance
Single submitter
Noonan syndrome 5
-
RAF1 p.Thr258Arg
Likely pathogenic
Single submitter
LEOPARD syndrome 2
-
RAF1 p.Thr362Ser
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Thr438Asn
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Thr481Ile
Uncertain significance
Single submitter
Cardiovascular phenotype
-
RAF1 p.Thr641Met
Conflicting
Single submitter
Cardiovascular phenotype
-
RAF1 p.Tyr411Cys
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Tyr411His
Uncertain significance
Single submitter
RASopathy
-
RAF1 p.Tyr574Cys
Conflicting
Single submitter
Cardiovascular phenotype
All RAF1 variants
Pathogenic 13
- p.Gly361Ala Expert panel RASopathy ⚠
- p.Leu613Val Expert panel RASopathy
- p.Pro261Ser Expert panel Noonan syndrome ⚠
- p.Ser257Leu Expert panel Noonan syndrome ⚠
- p.Ser259Ala Expert panel RASopathy ⚠
- p.Ser259Thr Expert panel RASopathy ⚠
- p.Ser259Tyr Expert panel RASopathy
- p.Thr491Ile Expert panel RASopathy
- p.Asn262Lys Multiple submitters RASopathy ⚠
- p.Ser259Phe Multiple submitters Noonan syndrome and Noonan-related syndrome
- p.Thr260Pro Multiple submitters RASopathy ⚠
- p.Asn262_Val263insAsn Single submitter Noonan syndrome 5
- p.Leu603Pro No assertion criteria dilated cardiomyopathy 1NN
Pathogenic/Likely pathogenic 15
- p.Arg256Gly Multiple submitters RAF1-related disorder
- p.Asp486Gly Multiple submitters RAF1-related disorder
- p.Gly169Arg Multiple submitters Noonan syndrome 5
- p.Phe475Leu Multiple submitters dilated cardiomyopathy 1NN
- p.Pro261Ala Multiple submitters RAF1-related disorder ⚠
- p.Pro261Arg Multiple submitters RAF1-related disorder ⚠
- p.Pro261His Multiple submitters Cardiovascular phenotype ⚠
- p.Pro261Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Pro261Thr Multiple submitters Noonan syndrome and Noonan-related syndrome ⚠
- p.Ser259Cys Multiple submitters RASopathy
- p.Ser259Pro Multiple submitters RASopathy ⚠
- p.Ser427Gly Multiple submitters Noonan syndrome and Noonan-related syndrome
- p.Thr260Lys Multiple submitters Noonan syndrome 5 ⚠
- p.Val263Ala Multiple submitters RAF1-related disorder ⚠
- p.Val263Asp Multiple submitters RAF1-related disorder ⚠
Likely pathogenic 24
- p.Arg256Ser Expert panel RASopathy ⚠
- p.Ser257Pro Expert panel RASopathy ⚠
- p.Val263Gly Expert panel RASopathy ⚠
- p.Asn262Asp Multiple submitters RASopathy ⚠
- p.Asn262Ile Multiple submitters RAF1-related disorder ⚠
- p.Asn262Ser Multiple submitters RAF1-related disorder ⚠
- p.Ser257Thr Multiple submitters RASopathy ⚠
- p.Thr491Arg Multiple submitters RASopathy
- p.Arg391Gly Single submitter
- p.Arg391Ser Single submitter RAF1-related disorder
- p.Asn140His Single submitter ⚠
- p.Asn161Lys Single submitter ⚠
- p.Asp486Glu Single submitter RASopathy
- p.Cys95Trp Single submitter Noonan syndrome
- p.His611Asn Single submitter RAF1-related disorder ⚠
- p.His611Leu Single submitter ⚠
- p.Leu397Met Single submitter ⚠
- p.Leu613Ile Single submitter Inborn genetic diseases
- p.Met519Thr Single submitter
- p.Ser497Asn Single submitter
- p.Thr145Pro Single submitter
- p.Thr258Arg Single submitter LEOPARD syndrome 2 ⚠
- p.Thr269Ile Single submitter Left ventricular noncompaction cardiomyopathy ⚠
- p.Ser259_Thr260delinsArgAla No assertion criteria Noonan syndrome
Conflicting classifications of pathogenicity 76
- c.1194-17TCCCC[2] Single submitter Cardiovascular phenotype
- c.1371-5C>A Single submitter Cardiovascular phenotype
- c.1537-13G>A Single submitter RASopathy
- c.1537-32_1537-8dup Single submitter RASopathy
- c.1537-5T>C Single submitter Cardiovascular phenotype
- c.1803+6G>C Single submitter Cardiovascular phenotype
- c.1804-11_1804-7dup Single submitter RASopathy
- c.208-4G>T Single submitter RASopathy
- c.321-1G>T Single submitter RASopathy
- c.321-4delinsTG Single submitter Cardiovascular phenotype
- c.581+5G>A Single submitter Noonan syndrome
- c.834+598G>A Single submitter Noonan syndrome 5
- c.-201C>A Single submitter LEOPARD syndrome 2
- c.-27+7G>A Single submitter Noonan syndrome and Noonan-related syndrome
- c.*190G>A Single submitter Noonan syndrome 5
- c.*2T>G Single submitter
- p.Ala7= Single submitter Cardiovascular phenotype
- p.Arg164= Single submitter Cardiovascular phenotype
- p.Arg216His Single submitter Cardiovascular phenotype ⚠
- p.Arg218= Single submitter RASopathy
- p.Arg282Gln Single submitter Cardiovascular phenotype ⚠
- p.Arg318Gln Single submitter RASopathy ⚠
- p.Arg333Cys Single submitter Cardiovascular phenotype
- p.Arg41Gln Single submitter Noonan syndrome and Noonan-related syndrome ⚠
- p.Arg41Leu Single submitter RASopathy
- p.Arg518Ter Single submitter RASopathy
- p.Arg563Gln Single submitter RASopathy ⚠
- p.Arg563Ter Single submitter Cardiovascular phenotype
- p.Asn262His Single submitter Cardiovascular phenotype ⚠
- p.Asn262Tyr Single submitter RASopathy ⚠
- p.Asn416Ser Single submitter RASopathy ⚠
- p.Asn473Ser Single submitter Noonan syndrome 5 ⚠
- p.Asn617Ile Single submitter RASopathy ⚠
- p.Asn64= Single submitter Cardiovascular phenotype
- p.Glu286Lys Single submitter RASopathy ⚠
- p.Gly107= Single submitter Cardiovascular phenotype
- p.His103Gln Single submitter RASopathy ⚠
- p.His175Arg Single submitter Cardiovascular phenotype ⚠
- p.His264Leu Single submitter Cardiovascular phenotype ⚠
- p.His264Pro Single submitter RASopathy ⚠
- p.His369= Single submitter Cardiovascular phenotype
- p.His626Arg Single submitter Inborn genetic diseases ⚠
- p.Ile122Thr Single submitter Cardiovascular phenotype ⚠
- p.Ile154Met Single submitter Cardiovascular phenotype ⚠
- p.Ile201Val Single submitter Cardiovascular phenotype ⚠
- p.Leu445Arg Single submitter Cardiovascular phenotype ⚠
- p.Leu48= Single submitter Cardiovascular phenotype
- p.Leu584= Single submitter RASopathy
- p.Lys18Arg Single submitter RASopathy ⚠
- p.Met214Thr Single submitter RASopathy ⚠
- p.Met350Ile Single submitter RASopathy ⚠
- p.Phe130Ile Single submitter RASopathy
- p.Phe151Ser Single submitter RASopathy ⚠
- p.Pro290Thr Single submitter Cardiovascular phenotype
- p.Pro311= Single submitter RASopathy
- p.Pro384Ala Single submitter Noonan syndrome and Noonan-related syndrome ⚠
- p.Ser257Trp Single submitter LEOPARD syndrome 2 ⚠
- p.Ser285Gly Single submitter RASopathy ⚠
- p.Ser291= Single submitter Cardiovascular phenotype
- p.Ser306Leu Single submitter Cardiovascular phenotype ⚠
- p.Ser359Pro Single submitter Cardiovascular phenotype ⚠
- p.Ser605Phe Single submitter Cardiovascular phenotype ⚠
- p.Ser624Cys Single submitter RASopathy
- p.Ser77= Single submitter LEOPARD syndrome 2
- p.Thr200= Single submitter Noonan syndrome 5
- p.Thr310Ala Single submitter RASopathy ⚠
- p.Thr638Met Single submitter Cardiovascular phenotype ⚠
- p.Thr641Ala Single submitter Cardiovascular phenotype ⚠
- p.Thr641Met Single submitter Cardiovascular phenotype ⚠
- p.Tyr232Cys Single submitter Cardiovascular phenotype ⚠
- p.Tyr38Ser Single submitter Noonan syndrome and Noonan-related syndrome ⚠
- p.Tyr574Cys Single submitter Cardiovascular phenotype ⚠
- p.Val226Ile Single submitter Cardiovascular phenotype ⚠
- p.Val312Met Single submitter Cardiovascular phenotype ⚠
- p.Val394= Single submitter Cardiovascular phenotype
- p.Val88= Single submitter Noonan syndrome and Noonan-related syndrome
Benign 72
- c.1108+9_1108+21del Expert panel RASopathy
- c.1668+4A>G Expert panel RASopathy
- c.-204G>C Expert panel RASopathy
- c.-267G>A Expert panel RASopathy
- c.-340_-339GA[1] Expert panel RASopathy
- p.Arg40His Expert panel RASopathy
- p.Asn71Ser Expert panel RASopathy
- p.Asp381Asn Expert panel RASopathy
- p.Gln610= Expert panel RASopathy
- p.Ile32Val Expert panel Noonan syndrome and Noonan-related syndrome
- p.Pro308Leu Expert panel RASopathy
- p.Thr213= Expert panel RASopathy
- p.Thr543= Expert panel RASopathy
- p.Thr638= Expert panel RASopathy
- p.Val585= Expert panel RASopathy
- p.Val647= Expert panel RASopathy
- c.1109-261A>G Multiple submitters
- c.1193+39T>C Multiple submitters
- c.1371-45C>T Multiple submitters
- c.1417+170C>G Multiple submitters
- c.1669-31C>A Multiple submitters
- c.1669-36C>T Multiple submitters
- c.321-14dup Multiple submitters RASopathy
- c.424-60A>T Multiple submitters
- c.581+262A>C Multiple submitters
- c.834+628G>A Multiple submitters
- c.990+133T>C Multiple submitters
- c.991-118A>G Multiple submitters
- c.-26-45G>A Multiple submitters
- c.-27+104C>T Multiple submitters
- c.-281C>G Multiple submitters LEOPARD syndrome 2
- c.*266C>T Multiple submitters LEOPARD syndrome 2
- c.*83C>T Multiple submitters Noonan syndrome 5
- c.1108+12dup Single submitter RASopathy
- c.1109-149dup Single submitter
- c.1193+124T>C Single submitter
- c.1194-179C>G Single submitter
- c.1194-21C>T Single submitter
- c.1371-203_1371-201del Single submitter
- c.1371-217_1371-209dup Single submitter
- c.1371-217_1371-210dup Single submitter
- c.1371-217_1371-216dup Single submitter
- c.1417+40T>C Single submitter
- c.1418-242C>T Single submitter
- c.1536+76dup Single submitter
- c.1537-40T>C Single submitter
- c.1668+30A>G Single submitter
- c.1669-23C>T Single submitter
- c.208-239T>C Single submitter
- c.208-41T>C Single submitter
- c.320+216C>A Single submitter
- c.581+329G>A Single submitter
- c.680+10dup Single submitter RASopathy
- c.680+152_680+153insC Single submitter
- c.680+233A>G Single submitter
- c.680+242T>A Single submitter
- c.680+243T>C Single submitter
- c.681-212A>G Single submitter
- c.834+1396T>C Single submitter
- c.834+20del Single submitter RASopathy
- c.835-308C>T Single submitter
- c.835-377G>T Single submitter
- c.835-768T>G Single submitter
- c.-170C>T Single submitter
- c.-26-12G>A Single submitter
- c.-26-220C>G Single submitter
- c.-26-390G>C Single submitter
- c.-27+139T>C Single submitter
- c.-27+148T>C Single submitter
- c.-27+152del Single submitter
- c.-280G>T Single submitter
- p.Pro225Ser No assertion criteria glioma
Benign/Likely benign 26
- c.1193+18G>C Multiple submitters RASopathy
- c.1371-15C>A Multiple submitters RASopathy
- c.1536+14C>G Multiple submitters RASopathy
- c.1537-11G>A Multiple submitters RASopathy
- c.1668+10_1668+11del Multiple submitters Noonan syndrome and Noonan-related syndrome
- c.1668+19G>T Multiple submitters RASopathy
- c.1669-13T>C Multiple submitters Cardiovascular phenotype
- c.208-17T>C Multiple submitters Cardiovascular phenotype
- c.320+19A>G Multiple submitters RASopathy
- c.321-14T>A Multiple submitters RASopathy
- c.424-5_424-3del Multiple submitters Noonan syndrome and Noonan-related syndrome
- c.834+8G>A Multiple submitters RASopathy
- c.*110T>C Multiple submitters Noonan syndrome 5
- c.*348T>C Multiple submitters LEOPARD syndrome 2
- p.Ala119= Multiple submitters Cardiovascular phenotype
- p.Cys27= Multiple submitters Cardiovascular phenotype
- p.Gln192= Multiple submitters Noonan syndrome and Noonan-related syndrome
- p.Glu607= Multiple submitters Cardiovascular phenotype
- p.His236= Multiple submitters RASopathy
- p.Ile190= Multiple submitters Cardiovascular phenotype
- p.Ser177= Multiple submitters Cardiovascular phenotype
- c.*160C>T Single submitter Noonan syndrome 5
- c.*404G>A Single submitter Noonan syndrome 5
- c.*495C>T Single submitter LEOPARD syndrome 2
- c.*556G>A Single submitter Noonan syndrome 5
- c.*606A>G Single submitter Noonan syndrome 5
Likely benign 463
Showing the top 300 by review status; the full set is in the sitemap.
- c.581+4A>G Expert panel RASopathy
- c.680+6T>C Expert panel RASopathy
- p.Ala42Ile Expert panel RASopathy
- p.Ala42Thr Expert panel RASopathy
- p.Ala42Val Expert panel RASopathy
- p.Asp371= Expert panel RASopathy
- p.Phe22Leu Expert panel RASopathy
- p.Thr303Ala Expert panel RASopathy
- p.Val312Ala Expert panel RASopathy
- c.1108+15C>T Multiple submitters RASopathy
- c.1109-120G>A Multiple submitters
- c.1109-17G>C Multiple submitters RASopathy
- c.1193+13C>T Multiple submitters RASopathy
- c.1193+17C>T Multiple submitters RASopathy
- c.1194-16C>T Multiple submitters RASopathy
- c.1194-9C>T Multiple submitters RASopathy
- c.1371-11T>G Multiple submitters RASopathy
- c.1537-19C>T Multiple submitters RASopathy
- c.1668+14G>C Multiple submitters RASopathy
- c.1668+15G>A Multiple submitters RASopathy
- c.1668+18C>T Multiple submitters RASopathy
- c.1668+19G>A Multiple submitters RASopathy
- c.1668+19G>C Multiple submitters RASopathy
- c.1669-14T>C Multiple submitters RASopathy
- c.1669-20A>G Multiple submitters RASopathy
- c.207+20A>C Multiple submitters RASopathy
- c.208-85C>T Multiple submitters
- c.320+17C>A Multiple submitters RASopathy
- c.321-4C>G Multiple submitters Cardiovascular phenotype
- c.423+12A>T Multiple submitters RASopathy
- c.423+19_423+23del Multiple submitters RASopathy
- c.424-129A>G Multiple submitters
- c.424-12T>G Multiple submitters RASopathy
- c.424-6T>C Multiple submitters RASopathy
- c.680+11A>G Multiple submitters RASopathy
- c.834+17G>C Multiple submitters RASopathy
- c.835-16T>C Multiple submitters RASopathy
- c.835-9C>G Multiple submitters RASopathy
- c.863-16T>C Multiple submitters RASopathy
- c.863-6A>G Multiple submitters RASopathy
- c.990+14A>G Multiple submitters RASopathy
- c.990+15C>T Multiple submitters RASopathy
- c.990+9A>G Multiple submitters RASopathy
- c.991-11A>G Multiple submitters RASopathy
- c.991-15C>A Multiple submitters RASopathy
- c.991-17A>G Multiple submitters RASopathy
- c.991-42T>C Multiple submitters
- c.991-43T>C Multiple submitters
- p.Ala292= Multiple submitters RASopathy
- p.Ala373= Multiple submitters Cardiovascular phenotype
- p.Ala629Ser Multiple submitters Cardiovascular phenotype
- p.Arg316= Multiple submitters RASopathy
- p.Arg554= Multiple submitters Cardiovascular phenotype
- p.Arg563= Multiple submitters RASopathy
- p.Arg618= Multiple submitters Cardiovascular phenotype
- p.Asn298= Multiple submitters Cardiovascular phenotype
- p.Asn552= Multiple submitters RASopathy
- p.Asn56= Multiple submitters RASopathy
- p.Asp203= Multiple submitters Cardiovascular phenotype
- p.Asp486= Multiple submitters RASopathy
- p.Cys424= Multiple submitters Cardiovascular phenotype
- p.Gln156= Multiple submitters Cardiovascular phenotype
- p.Gln315= Multiple submitters RASopathy
- p.Gln92= Multiple submitters Cardiovascular phenotype
- p.Glu286Gln Multiple submitters Cardiovascular phenotype
- p.Glu632= Multiple submitters RASopathy
- p.Gly14= Multiple submitters Cardiovascular phenotype
- p.Gly169= Multiple submitters Cardiovascular phenotype
- p.Gly202= Multiple submitters Cardiovascular phenotype
- p.Gly498= Multiple submitters RASopathy
- p.Gly544= Multiple submitters Cardiovascular phenotype
- p.His103= Multiple submitters RASopathy
- p.His133= Multiple submitters RASopathy
- p.His477= Multiple submitters Cardiovascular phenotype
- p.His611= Multiple submitters Cardiovascular phenotype
- p.His79= Multiple submitters Cardiovascular phenotype
- p.Ile201= Multiple submitters Cardiovascular phenotype
- p.Ile474= Multiple submitters Cardiovascular phenotype
- p.Ile536= Multiple submitters Cardiovascular phenotype
- p.Ile558= Multiple submitters RASopathy
- p.Leu102= Multiple submitters Cardiovascular phenotype
- p.Leu159= Multiple submitters RASopathy
- p.Leu193= Multiple submitters Cardiovascular phenotype
- p.Leu209= Multiple submitters Cardiovascular phenotype
- p.Leu351= Multiple submitters Cardiovascular phenotype
- p.Leu397= Multiple submitters RASopathy
- p.Leu476= Multiple submitters RASopathy
- p.Leu538= Multiple submitters Cardiovascular phenotype
- p.Leu608= Multiple submitters Cardiovascular phenotype
- p.Leu625= Multiple submitters Cardiovascular phenotype
- p.Leu639= Multiple submitters Cardiovascular phenotype
- p.Leu82= Multiple submitters Cardiovascular phenotype
- p.Leu91= Multiple submitters Cardiovascular phenotype
- p.Lys157= Multiple submitters RASopathy
- p.Lys171= Multiple submitters Cardiovascular phenotype
- p.Lys439= Multiple submitters RASopathy
- p.Phe36= Multiple submitters Cardiovascular phenotype
- p.Phe99= Multiple submitters Cardiovascular phenotype
- p.Pro210= Multiple submitters RASopathy
- p.Pro308= Multiple submitters RASopathy
- p.Pro505= Multiple submitters Cardiovascular phenotype
- p.Pro524= Multiple submitters RASopathy
- p.Pro568= Multiple submitters Cardiovascular phenotype
- p.Pro600= Multiple submitters Cardiovascular phenotype
- p.Pro614= Multiple submitters RASopathy
- p.Pro63= Multiple submitters Cardiovascular phenotype
- p.Pro643= Multiple submitters Cardiovascular phenotype
- p.Ser257= Multiple submitters RASopathy
- p.Ser285= Multiple submitters Cardiovascular phenotype
- p.Ser338= Multiple submitters Cardiovascular phenotype
- p.Ser612= Multiple submitters Cardiovascular phenotype
- p.Ser619= Multiple submitters Cardiovascular phenotype
- p.Ser621= Multiple submitters Cardiovascular phenotype
- p.Ser642= Multiple submitters RASopathy
- p.Ter649= Multiple submitters Noonan syndrome and Noonan-related syndrome
- p.Thr10= Multiple submitters Cardiovascular phenotype
- p.Thr31= Multiple submitters Cardiovascular phenotype
- p.Thr353= Multiple submitters Cardiovascular phenotype
- p.Thr362= Multiple submitters RASopathy
- p.Thr413= Multiple submitters Cardiovascular phenotype
- p.Thr452= Multiple submitters Cardiovascular phenotype
- p.Thr57= Multiple submitters RASopathy
- p.Thr641= Multiple submitters Cardiovascular phenotype
- p.Tyr341= Multiple submitters Cardiovascular phenotype
- p.Tyr548= Multiple submitters Cardiovascular phenotype
- p.Tyr565= Multiple submitters RASopathy
- p.Val180= Multiple submitters RASopathy
- p.Val21= Multiple submitters Cardiovascular phenotype
- p.Val21Met Multiple submitters RASopathy
- p.Val226= Multiple submitters
- p.Val33= Multiple submitters RASopathy
- p.Val349= Multiple submitters Cardiovascular phenotype
- p.Val379= Multiple submitters RASopathy
- p.Val400= Multiple submitters Cardiovascular phenotype
- p.Val537= Multiple submitters Cardiovascular phenotype
- p.Val72= Multiple submitters RASopathy
- c.1108+14C>G Single submitter RASopathy
- c.1108+157C>G Single submitter
- c.1108+18C>T Single submitter RASopathy
- c.1108+196A>C Single submitter
- c.1109-16C>T Single submitter RASopathy
- c.1192_1193+15del Single submitter Cardiovascular phenotype
- c.1193+14T>G Single submitter RASopathy
- c.1193+18G>A Single submitter RASopathy
- c.1193+8G>A Single submitter RASopathy
- c.1194-12del Single submitter RASopathy
- c.1194-13C>T Single submitter RASopathy
- c.1194-15C>G Single submitter RASopathy
- c.1194-15C>T Single submitter RASopathy
- c.1194-17T>C Single submitter RASopathy
- c.1194-17TCCCC[4] Single submitter RASopathy
- c.1194-23CT[2] Single submitter RASopathy
- c.1194-4_1194-3del Single submitter RASopathy
- c.1194-6C>T Single submitter RASopathy
- c.1194-7T>C Single submitter RASopathy
- c.1370+10T>C Single submitter RASopathy
- c.1370+11G>T Single submitter RASopathy
- c.1370+15T>G Single submitter RASopathy
- c.1370+17A>G Single submitter RASopathy
- c.1370+19dup Single submitter RASopathy
- c.1371-12T>C Single submitter RASopathy
- c.1371-13T>C Single submitter RASopathy
- c.1371-15C>G Single submitter RASopathy
- c.1371-18T>C Single submitter RASopathy
- c.1371-20A>G Single submitter RASopathy
- c.1371-217_1371-211dup Single submitter
- c.1371-218_1371-217insCAAAAAAAAAAA Single submitter
- c.1371-295G>A Single submitter
- c.1371-4A>G Single submitter RASopathy
- c.1371-8C>A Single submitter RASopathy
- c.1371-8C>T Single submitter RASopathy
- c.1371-9C>T Single submitter RASopathy
- c.1417+10G>A Single submitter RASopathy
- c.1417+10G>C Single submitter RASopathy
- c.1417+11G>A Single submitter
- c.1417+13T>G Single submitter RASopathy
- c.1417+15_1417+17del Single submitter RASopathy
- c.1418-11_1418-9del Single submitter RASopathy
- c.1418-241G>A Single submitter
- c.1418-9A>G Single submitter RASopathy
- c.1536+10T>C Single submitter RASopathy
- c.1536+13G>A Single submitter RASopathy
- c.1537-10dup Single submitter RASopathy
- c.1537-11_1537-3dup Single submitter
- c.1537-13G>C Single submitter RASopathy
- c.1537-13G>T Single submitter RASopathy
- c.1537-14G>C Single submitter RASopathy
- c.1537-17T>C Single submitter RASopathy
- c.1537-32_1537-8del Single submitter
- c.1537-4G>A Single submitter RASopathy
- c.1537-8A>G Single submitter RASopathy
- c.1537-9T>C Single submitter RASopathy
- c.1668+20A>T Single submitter RASopathy
- c.1668+7C>T Single submitter
- c.1668+8T>G Single submitter RASopathy
- c.1668+9G>C Single submitter RASopathy
- c.1669-11C>T Single submitter RASopathy
- c.1803+13del Single submitter RASopathy
- c.1803+14C>T Single submitter RASopathy
- c.1803+15T>G Single submitter RASopathy
- c.1803+16G>A Single submitter RASopathy
- c.1803+16G>C Single submitter RASopathy
- c.1803+18T>C Single submitter RASopathy
- c.1803+20_1803+30del Single submitter RASopathy
- c.1803+20G>C Single submitter RASopathy
- c.1803+9C>T Single submitter RASopathy
- c.1804-13G>A Single submitter RASopathy
- c.1804-13G>C Single submitter RASopathy
- c.1804-16T>G Single submitter RASopathy
- c.1804-17C>A Single submitter RASopathy
- c.1804-17C>T Single submitter
- c.1804-7_1804-4del Single submitter RASopathy
- c.1804-7G>C Single submitter RASopathy
- c.1804-9_1804-8del Single submitter RASopathy
- c.207+11A>G Single submitter RASopathy
- c.207+12T>C Single submitter RASopathy
- c.207+16A>G Single submitter RASopathy
- c.207+17C>T Single submitter RASopathy
- c.207+18T>C Single submitter RASopathy
- c.207+7G>C Single submitter RASopathy
- c.208-12C>T Single submitter RASopathy
- c.208-13C>T Single submitter RASopathy
- c.208-18G>A Single submitter RASopathy
- c.208-19G>T Single submitter RASopathy
- c.208-315C>G Single submitter
- c.208-316C>T Single submitter
- c.208-4G>A Single submitter RASopathy
- c.208-4G>C Single submitter
- c.320+16T>G Single submitter RASopathy
- c.320+9dup Single submitter
- c.321-4_321-3insG Single submitter RASopathy
- c.321-4C>A Single submitter Cardiovascular phenotype
- c.321-4C>T Single submitter RASopathy
- c.321-5T>A Single submitter RASopathy
- c.423+12A>C Single submitter RASopathy
- c.423+16C>G Single submitter RASopathy
- c.423+9C>A Single submitter RASopathy
- c.423+9C>G Single submitter RASopathy
- c.424-10C>G Single submitter RASopathy
- c.424-11T>C Single submitter RASopathy
- c.424-14T>C Single submitter RASopathy
- c.424-16T>C Single submitter RASopathy
- c.424-17del Single submitter RASopathy
- c.424-8T>C Single submitter RASopathy
- c.581+8A>G Single submitter RASopathy
- c.582-10T>C Single submitter RASopathy
- c.582-11C>T Single submitter RASopathy
- c.582-12G>A Single submitter RASopathy
- c.582-137A>G Single submitter
- c.582-14C>G Single submitter RASopathy
- c.582-17T>C Single submitter RASopathy
- c.582-6G>A Single submitter RASopathy
- c.582-7T>G Single submitter RASopathy
- c.680+12C>T Single submitter RASopathy
- c.680+13C>G Single submitter RASopathy
- c.680+13C>T Single submitter RASopathy
- c.680+18G>T Single submitter RASopathy
- c.680+312C>A Single submitter
- c.681-10C>A Single submitter RASopathy
- c.681-10C>T Single submitter
- c.681-17T>A Single submitter RASopathy
- c.681-17T>G Single submitter RASopathy
- c.681-20A>G Single submitter RASopathy
- c.681-248T>C Single submitter
- c.681-37C>T Single submitter
- c.681-4C>T Single submitter RASopathy
- c.681-5_681-3del Single submitter RASopathy
- c.681-5C>G Single submitter
- c.681-7C>T Single submitter RASopathy
- c.834+10C>T Single submitter RASopathy
- c.834+13C>T Single submitter RASopathy
- c.834+14T>A Single submitter
- c.834+1790T>G Single submitter
- c.834+17G>A Single submitter RASopathy
- c.834+20G>T Single submitter RASopathy
- c.834+611A>G Single submitter
- c.835-11T>C Single submitter RASopathy
- c.835-1599G>T Single submitter
- c.835-18T>G Single submitter RASopathy
- c.835-19C>T Single submitter RASopathy
- c.835-20G>A Single submitter RASopathy
- c.835-20G>C Single submitter
- c.835-225T>G Single submitter
- c.835-362C>T Single submitter
- c.835-505C>G Single submitter
- c.835-53dup Single submitter
- c.835-8del Single submitter RASopathy
- c.862+11A>G Single submitter RASopathy
- c.862+12T>C Single submitter RASopathy
- c.862+13A>C Single submitter RASopathy
- c.862+14G>A Single submitter RASopathy
- c.862+16C>A Single submitter RASopathy
- c.862+17A>G Single submitter RASopathy
- c.862+20T>A Single submitter RASopathy
- c.862+8T>G Single submitter RASopathy
- c.863-15_863-14del Single submitter RASopathy
- c.863-16del Single submitter RASopathy
- c.863-16T>G Single submitter RASopathy
- c.863-19G>A Single submitter RASopathy
- c.863-21_863-20del Single submitter RASopathy
Uncertain significance 631
Showing the top 300 by review status; the full set is in the sitemap.
- p.Arg398Leu Expert panel RASopathy ⚠
- p.Asp279Asn Expert panel RASopathy ⚠
- p.Thr260Ile Expert panel RASopathy ⚠
- c.1109_1111delGAG Multiple submitters Cardiovascular phenotype
- c.1668+5G>A Multiple submitters RASopathy
- c.207+5G>T Multiple submitters Cardiovascular phenotype
- c.208-6_208-3del Multiple submitters Cardiovascular phenotype
- c.834+4A>C Multiple submitters Cardiovascular phenotype
- c.-181T>C Multiple submitters Noonan syndrome 5
- c.-209G>A Multiple submitters Noonan syndrome 5
- c.-264C>G Multiple submitters LEOPARD syndrome 2
- c.-4A>C Multiple submitters Cardiovascular phenotype
- c.-59C>G Multiple submitters LEOPARD syndrome 2
- c.*643C>G Multiple submitters LEOPARD syndrome 2
- p.Ala110fs Multiple submitters RASopathy
- p.Ala119Val Multiple submitters Cardiovascular phenotype ⚠
- p.Ala208Glu Multiple submitters RASopathy ⚠
- p.Ala237Thr Multiple submitters RASopathy ⚠
- p.Ala566Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ala7Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Arg111Cys Multiple submitters RASopathy ⚠
- p.Arg111His Multiple submitters LEOPARD syndrome 2 ⚠
- p.Arg143Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Arg215His Multiple submitters Cardiovascular phenotype ⚠
- p.Arg256Lys Multiple submitters Cardiovascular phenotype ⚠
- p.Arg318Trp Multiple submitters RASopathy
- p.Arg354Gln Multiple submitters RASopathy ⚠
- p.Arg398Cys Multiple submitters RASopathy ⚠
- p.Arg401Gln Multiple submitters RASopathy ⚠
- p.Arg401Trp Multiple submitters Cardiovascular phenotype ⚠
- p.Arg41Trp Multiple submitters RASopathy
- p.Arg450Gln Multiple submitters RASopathy ⚠
- p.Arg495Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Arg518Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Arg554Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Arg59His Multiple submitters Noonan syndrome ⚠
- p.Arg618Trp Multiple submitters RASopathy ⚠
- p.Arg627Gln Multiple submitters dilated cardiomyopathy 1NN ⚠
- p.Arg627Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Arg627Trp Multiple submitters Noonan syndrome and Noonan-related syndrome ⚠
- p.Arg644Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Arg73Gln Multiple submitters RASopathy ⚠
- p.Asn13Asp Multiple submitters Cardiovascular phenotype ⚠
- p.Asn13Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Asn140Ser Multiple submitters Cardiovascular phenotype
- p.Asn161Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Asn299Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Asn522Lys Multiple submitters Cardiovascular phenotype ⚠
- p.Asn523del Multiple submitters Cardiovascular phenotype
- p.Asn552Lys Multiple submitters Cardiovascular phenotype
- p.Asn552Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Asn553His Multiple submitters Cardiovascular phenotype ⚠
- p.Asn617Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Asn617Thr Multiple submitters Noonan syndrome 5 ⚠
- p.Asn635Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Asn71Ile Multiple submitters RASopathy ⚠
- p.Asp23del Multiple submitters Noonan syndrome 5
- p.Asp273Glu Multiple submitters Cardiovascular phenotype ⚠
- p.Asp279Glu Multiple submitters RASopathy ⚠
- p.Asp555His Multiple submitters Cardiovascular phenotype ⚠
- p.Asp633Ala Multiple submitters Cardiovascular phenotype
- p.Asp80Asn Multiple submitters RASopathy ⚠
- p.Cys637Tyr Multiple submitters RASopathy ⚠
- p.Gln325Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Gln556Lys Multiple submitters RASopathy ⚠
- p.Gln601Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Gln92His Multiple submitters RASopathy ⚠
- p.Glu104Lys Multiple submitters RASopathy ⚠
- p.Glu345Gln Multiple submitters RASopathy ⚠
- p.Glu393Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Glu622Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Glu632_Thr640delinsAla Multiple submitters RASopathy
- p.Gly14Asp Multiple submitters RASopathy ⚠
- p.Gly202Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Gly24Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Gly356Ala Multiple submitters RASopathy ⚠
- p.Gly488Asp Multiple submitters RASopathy ⚠
- p.Gly562Val Multiple submitters RASopathy ⚠
- p.Gly564Arg Multiple submitters Cardiovascular phenotype ⚠
- p.His105Asp Multiple submitters RASopathy ⚠
- p.His79Arg Multiple submitters dilated cardiomyopathy 1NN ⚠
- p.Ile11Phe Multiple submitters LEOPARD syndrome 2 ⚠
- p.Ile201Thr Multiple submitters Noonan syndrome and Noonan-related syndrome ⚠
- p.Ile277Ser Multiple submitters RASopathy
- p.Ile281Val Multiple submitters Cardiovascular phenotype ⚠
- p.Ile330Thr Multiple submitters RASopathy ⚠
- p.Ile330Val Multiple submitters RASopathy ⚠
- p.Ile355Val Multiple submitters RASopathy ⚠
- p.Ile446Met Multiple submitters Cardiovascular phenotype ⚠
- p.Ile448Val Multiple submitters RASopathy ⚠
- p.Ile4Thr Multiple submitters RASopathy
- p.Ile536Val Multiple submitters Cardiovascular phenotype ⚠
- p.Ile551Val Multiple submitters ⚠
- p.Ile634Thr Multiple submitters Cardiovascular phenotype
- p.Leu102del Multiple submitters Cardiovascular phenotype
- p.Leu126Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Leu149Phe Multiple submitters RASopathy ⚠
- p.Leu194Ile Multiple submitters Cardiovascular phenotype ⚠
- p.Leu212Trp Multiple submitters RASopathy ⚠
- p.Leu251His Multiple submitters Cardiovascular phenotype ⚠
- p.Leu251Phe Multiple submitters Noonan syndrome 5 ⚠
- p.Leu251Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Leu300Met Multiple submitters RASopathy ⚠
- p.Leu433Val Multiple submitters RASopathy ⚠
- p.Leu476Phe Multiple submitters Cardiovascular phenotype ⚠
- p.Leu538Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Leu541Met Multiple submitters RASopathy ⚠
- p.Leu570Val Multiple submitters ⚠
- p.Leu613fs Multiple submitters RASopathy
- p.Lys109del Multiple submitters RASopathy
- p.Lys171Arg Multiple submitters RASopathy ⚠
- p.Lys171Thr Multiple submitters RASopathy ⚠
- p.Lys179Arg Multiple submitters RASopathy ⚠
- p.Lys483Ile Multiple submitters RASopathy ⚠
- p.Lys590Asn Multiple submitters LEOPARD syndrome 2
- p.Lys590Glu Multiple submitters RASopathy ⚠
- p.Met1Val Multiple submitters RASopathy
- p.Met224Ile Multiple submitters RASopathy ⚠
- p.Met265Val Multiple submitters RASopathy ⚠
- p.Met276Val Multiple submitters RASopathy ⚠
- p.Met412Val Multiple submitters Cardiovascular phenotype
- p.Met542Thr Multiple submitters RASopathy ⚠
- p.Met560Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Met581Val Multiple submitters Cardiovascular phenotype ⚠
- p.Met76Val Multiple submitters RASopathy ⚠
- p.Phe146Leu Multiple submitters RAF1-related disorder ⚠
- p.Phe151Leu Multiple submitters RASopathy ⚠
- p.Phe22Cys Multiple submitters RASopathy ⚠
- p.Phe360Ser Multiple submitters RASopathy ⚠
- p.Phe61Leu Multiple submitters RASopathy ⚠
- p.Pro197Ala Multiple submitters RASopathy ⚠
- p.Pro225Ala Multiple submitters RASopathy ⚠
- p.Pro290His Multiple submitters RAF1-related disorder ⚠
- p.Pro30Ser Multiple submitters Cardiovascular phenotype
- p.Pro311_Ala314del Multiple submitters Cardiovascular phenotype
- p.Pro313Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Pro382Ser Multiple submitters RASopathy ⚠
- p.Pro384Ser Multiple submitters RASopathy
- p.Pro505Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Pro600His Multiple submitters RASopathy ⚠
- p.Pro623Ser Multiple submitters LEOPARD syndrome 2 ⚠
- p.Pro63Leu Multiple submitters Noonan syndrome 5 ⚠
- p.Pro643Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Pro643Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Pro646Ser Multiple submitters RASopathy ⚠
- p.Pro93Leu Multiple submitters RASopathy ⚠
- p.Pro93Ser Multiple submitters RASopathy ⚠
- p.Ser12Gly Multiple submitters RASopathy ⚠
- p.Ser227Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Ser228Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Ser243Cys Multiple submitters RASopathy ⚠
- p.Ser283Asn Multiple submitters RASopathy ⚠
- p.Ser285Arg Multiple submitters RASopathy ⚠
- p.Ser295Thr Multiple submitters Noonan syndrome 5 ⚠
- p.Ser604Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Ser612Cys Multiple submitters RASopathy ⚠
- p.Ser612Thr Multiple submitters RASopathy ⚠
- p.Thr10Met Multiple submitters Cardiovascular phenotype ⚠
- p.Thr116Ser Multiple submitters RASopathy ⚠
- p.Thr145Met Multiple submitters Noonan syndrome 5 ⚠
- p.Thr178Ser Multiple submitters RASopathy ⚠
- p.Thr213Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Thr268Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Thr268Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Thr303Ile Multiple submitters Cardiovascular phenotype ⚠
- p.Thr310Ile Multiple submitters RASopathy ⚠
- p.Thr31Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Thr383Asn Multiple submitters RAF1-related disorder
- p.Thr452Met Multiple submitters RASopathy ⚠
- p.Thr506Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Thr57Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Thr641Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Trp187Arg Multiple submitters RASopathy ⚠
- p.Trp305Cys Multiple submitters Cardiovascular phenotype
- p.Trp8Ser Multiple submitters RASopathy
- p.Tyr340Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Tyr565Cys Multiple submitters RASopathy ⚠
- p.Tyr565Phe Multiple submitters RASopathy ⚠
- p.Val21Ala Multiple submitters RASopathy ⚠
- p.Val312Leu Multiple submitters RASopathy ⚠
- p.Val33Ile Multiple submitters Cardiovascular phenotype ⚠
- p.Val403Met Multiple submitters Noonan syndrome 5 ⚠
- p.Val516Met Multiple submitters RASopathy ⚠
- p.Val537Ile Multiple submitters Cardiovascular phenotype ⚠
- p.Val647Ile Multiple submitters RASopathy ⚠
- p.Val88Leu Multiple submitters RASopathy ⚠
- p.Val98Ala Multiple submitters Cardiovascular phenotype ⚠
- c.1109-10A>G Single submitter RASopathy
- c.1109-13A>G Single submitter RASopathy
- c.1194-3C>T Single submitter RASopathy
- c.1370+3_1370+6del Single submitter RASopathy
- c.1370+3G>A Single submitter RASopathy
- c.1371-3C>T Single submitter RASopathy
- c.1417+1G>A Single submitter RASopathy
- c.1417+6C>T Single submitter RASopathy
- c.1418-15_1418-14insCTCTGGTATAGGGCAAAAGGAATGCCTTGGAGATTTATGTGCAAACTTAAAGCGTTTCTGTA Single submitter RASopathy
- c.1418-15_1418-14insCTGGTATAGGGCAAAAGGAATGCCTTGGAGATTTATGTGCAAACTTAAAGCGTTTCTGTA Single submitter RASopathy
- c.1536+3G>A Single submitter RASopathy
- c.1668+1G>A Single submitter RASopathy
- c.1668+3_1668+4dup Single submitter RASopathy
- c.1668+6T>A Single submitter RASopathy
- c.1669-19_1672dup Single submitter RASopathy
- c.1669-5C>T Single submitter Cardiovascular phenotype
- c.1803+6G>A Single submitter RASopathy
- c.207+10C>T Single submitter
- c.320+6A>T Single submitter RASopathy
- c.321-13dup Single submitter
- c.321-3T>C Single submitter RASopathy
- c.423+1G>T Single submitter
- c.581+3A>G Single submitter RASopathy
- c.581+5G>C Single submitter
- c.582-8T>G Single submitter dilated cardiomyopathy 1NN
- c.680+202A>G Single submitter
- c.681-1G>C Single submitter RASopathy
- c.834+614_834+618delinsTGTTAT Single submitter RAF1-related disorder
- c.834+630G>A Single submitter
- c.834+650A>C Single submitter LEOPARD syndrome 2
- c.834+662G>T Single submitter dilated cardiomyopathy 1NN
- c.862+3A>C Single submitter
- c.862+4C>A Single submitter RASopathy
- c.862+4C>T Single submitter RASopathy
- c.863-3A>G Single submitter RASopathy
- c.(?_-1 Single submitter Cardiovascular phenotype
- c.-107C>T Single submitter Noonan syndrome 5
- c.-110G>A Single submitter Noonan syndrome 5
- c.-139T>G Single submitter Noonan syndrome 5
- c.-146C>G Single submitter Noonan syndrome 5
- c.(?_-26 Single submitter
- c.-26-?_1370+?dup Single submitter RASopathy
- c.-354C>G Single submitter Noonan syndrome 5
- c.-53G>A Single submitter LEOPARD syndrome 2
- c.*10C>T Single submitter
- c.*113T>G Single submitter Noonan syndrome 5
- c.*120C>A Single submitter LEOPARD syndrome 2
- c.*162T>C Single submitter Noonan syndrome 5
- c.*19_*20delinsA Single submitter
- c.*410A>G Single submitter LEOPARD syndrome 2
- c.*627C>T Single submitter Noonan syndrome 5
- c.*628G>T Single submitter LEOPARD syndrome 2
- c.*630A>G Single submitter LEOPARD syndrome 2
- c.*640T>C Single submitter Noonan syndrome 5
- c.*647G>T Single submitter LEOPARD syndrome 2
- c.*706C>T Single submitter LEOPARD syndrome 2
- c.*729AACA[4] Single submitter
- c.*729AACA[6] Single submitter
- c.*73T>A Single submitter LEOPARD syndrome 2
- c.*840A>T Single submitter LEOPARD syndrome 2
- c.*841C>T Single submitter Noonan syndrome 5
- p.Ala110Val Single submitter ⚠
- p.Ala118Val Single submitter RASopathy ⚠
- p.Ala119Thr Single submitter RASopathy ⚠
- p.Ala142Ser Single submitter ⚠
- p.Ala150Thr Single submitter Cardiovascular phenotype ⚠
- p.Ala208Pro Single submitter RASopathy ⚠
- p.Ala208Val Single submitter RASopathy ⚠
- p.Ala237Asp Single submitter Cardiovascular phenotype
- p.Ala237Gly Single submitter ⚠
- p.Ala237Val Single submitter RASopathy ⚠
- p.Ala288Val Single submitter RASopathy ⚠
- p.Ala292Thr Single submitter RASopathy ⚠
- p.Ala319Glu Single submitter Cardiovascular phenotype ⚠
- p.Ala346Asp Single submitter RASopathy ⚠
- p.Ala373Val Single submitter Noonan syndrome 5 ⚠
- p.Ala513Pro Single submitter Cardiovascular phenotype ⚠
- p.Ala566Val Single submitter ⚠
- p.Ala580Ser Single submitter RASopathy ⚠
- p.Ala580Thr Single submitter RASopathy
- p.Ala586Pro Single submitter pituitary stalk interruption syndrome ⚠
- p.Ala620Thr Single submitter RASopathy ⚠
- p.Ala629Gly Single submitter RASopathy ⚠
- p.Ala636Ser Single submitter Cardiovascular phenotype ⚠
- p.Ala636Val Single submitter Cardiovascular phenotype ⚠
- p.Arg143Gly Single submitter RASopathy ⚠
- p.Arg164Gln Single submitter RASopathy ⚠
- p.Arg164Leu Single submitter RASopathy ⚠
- p.Arg215Cys Single submitter RASopathy ⚠
- p.Arg216Cys Single submitter RASopathy ⚠
- p.Arg216Gly Single submitter RASopathy
- p.Arg218Ter Single submitter RASopathy
- p.Arg256Thr Single submitter Cardiovascular phenotype ⚠
- p.Arg282Gly Single submitter ⚠
- p.Arg282Ter Single submitter Cardiovascular phenotype
- p.Arg316Lys Single submitter RASopathy ⚠
- p.Arg333Gly Single submitter RASopathy ⚠
- p.Arg333Leu Single submitter RASopathy ⚠
- p.Arg333Pro Single submitter ⚠
- p.Arg354Leu Single submitter Cardiovascular phenotype ⚠
- p.Arg398His Single submitter RASopathy ⚠
- p.Arg401Gly Single submitter RASopathy ⚠
- p.Arg40Leu Single submitter Cardiovascular phenotype
- p.Arg450Leu Single submitter RASopathy ⚠
- p.Arg450Trp Single submitter RASopathy ⚠
- p.Arg495His Single submitter ⚠
- p.Arg554Gly Single submitter ⚠
- p.Arg554Ter Single submitter RASopathy
- p.Arg583Thr Single submitter Cardiovascular phenotype ⚠
- p.Arg583Trp Single submitter RASopathy ⚠
- p.Arg59Cys Single submitter RASopathy ⚠
- p.Arg618Gln Single submitter Cardiovascular phenotype ⚠
- p.Arg627Gly Single submitter Cardiovascular phenotype ⚠