CBL — 2299 ClinVar variants
All ClinVar germline CBL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1196 flagged for review →
11 Pathogenic · 11 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 118 Conflicting · 93 Benign · 32 Benign/Likely benign · 629 Likely benign · 1391 Uncertain significance
Full CBL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 1196
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 agree, ClinVar conflicts 54
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CBL p.Ala602Ser
Conflicting
Single submitter
RASopathy
-
CBL p.Ala741Val
Conflicting
Single submitter
RASopathy
-
CBL p.Arg149Gln
Conflicting
Single submitter
RASopathy
-
CBL p.Arg280Gln
Conflicting
Single submitter
RASopathy
-
CBL p.Arg420Pro
Conflicting
Single submitter
RASopathy
-
CBL p.Arg480Gln
Conflicting
Single submitter
Cardiovascular phenotype
-
CBL p.Arg559Gln
Conflicting
Single submitter
juvenile myelomonocytic leukemia
-
CBL p.Arg575Gly
Conflicting
Single submitter
Growth failure in early childhood
-
CBL p.Arg585His
Conflicting
Single submitter
Cardiovascular phenotype
-
CBL p.Arg585Leu
Conflicting
Single submitter
CBL-related disorder
-
CBL p.Arg709Gln
Conflicting
Single submitter
Cardiovascular phenotype
-
CBL p.Arg787His
Conflicting
Single submitter
RASopathy
-
CBL p.Arg829Gln
Conflicting
Single submitter
CBL-related disorder
-
CBL p.Asn344Ser
Conflicting
Single submitter
RASopathy
-
CBL p.Asn736Asp
Conflicting
Single submitter
RASopathy
-
CBL p.Asn863Ser
Conflicting
Single submitter
CBL-related disorder
-
CBL p.Asp390Val
Conflicting
Single submitter
RASopathy
-
CBL p.Cys381Arg
Conflicting
Single submitter
RASopathy
-
CBL p.Cys384Arg
Conflicting
Single submitter
RASopathy
-
CBL p.Cys396Arg
Conflicting
Single submitter
RASopathy
-
CBL p.Cys401Arg
Conflicting
Single submitter
CBL-related disorder
-
CBL p.Cys404Arg
Conflicting
Single submitter
RASopathy
-
CBL p.Cys416Arg
Conflicting
Single submitter
RASopathy
-
CBL p.Cys840Trp
Conflicting
Single submitter
Cardiovascular phenotype
-
CBL p.Gln367Lys
Conflicting
Single submitter
Inborn genetic diseases
-
CBL p.Glu386Lys
Conflicting
Single submitter
RASopathy
-
CBL p.Glu746Lys
Conflicting
Single submitter
RASopathy
-
CBL p.Gly413Arg
Conflicting
Single submitter
CBL-related disorder
-
CBL p.Gly415Cys
Conflicting
Single submitter
RASopathy
-
CBL p.Gly475Ser
Conflicting
Single submitter
RASopathy
-
CBL p.Gly838Val
Conflicting
Single submitter
RASopathy
-
CBL p.His398Arg
Conflicting
Single submitter
CBL-related disorder
-
CBL p.His398Tyr
Conflicting
Single submitter
RASopathy
-
CBL p.Ile744Val
Conflicting
Single submitter
Cardiovascular phenotype
-
CBL p.Leu380Pro
Conflicting
Single submitter
CBL-related disorder
-
CBL p.Leu624Ser
Conflicting
Single submitter
Cardiovascular phenotype
-
CBL p.Lys382Glu
Conflicting
Single submitter
RASopathy
-
CBL p.Lys389Glu
Conflicting
Single submitter
RASopathy
-
CBL p.Lys577Glu
Conflicting
Single submitter
RASopathy
-
CBL p.Lys889Arg
Conflicting
Single submitter
RASopathy
-
CBL p.Met222Leu
Conflicting
Single submitter
RASopathy
-
CBL p.Phe485Leu
Conflicting
Single submitter
CBL-related disorder
-
CBL p.Pro453Ser
Conflicting
Single submitter
RASopathy
-
CBL p.Pro510Ala
Conflicting
Single submitter
CBL-related disorder
-
CBL p.Pro687Leu
Conflicting
Single submitter
CBL-related disorder
-
CBL p.Pro688Ser
Conflicting
Single submitter
CBL-related disorder
-
CBL p.Pro707Leu
Conflicting
Single submitter
RASopathy
-
CBL p.Pro828Ser
Conflicting
Single submitter
RASopathy
-
CBL p.Ser407Tyr
Conflicting
Single submitter
RASopathy
-
CBL p.Ser839Thr
Conflicting
Single submitter
RASopathy
-
CBL p.Ser844Gly
Conflicting
Single submitter
Cardiovascular phenotype
-
CBL p.Thr518Ala
Conflicting
Single submitter
RASopathy
-
CBL p.Thr610Lys
Conflicting
Single submitter
CBL-related disorder
-
CBL p.Trp408Arg
Conflicting
Single submitter
Cardiovascular phenotype
Predictors lean, ClinVar uncertain 811
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 811
-
CBL p.Ala187Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ala385Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ala450Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ala463Asp
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ala488Val
Uncertain significance
Multiple submitters
juvenile myelomonocytic leukemia
-
CBL p.Ala513Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ala513Val
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ala515Pro
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ala522Val
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ala556Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ala670Val
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ala719Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ala719Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ala733Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ala756Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ala757Val
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ala758Val
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ala76Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ala786Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ala837Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ala851Ser
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ala851Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ala853Val
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Arg116Gly
Uncertain significance
Multiple submitters
CBL-related disorder
- CBL p.Arg116Met Uncertain significance Multiple submitters
-
CBL p.Arg191Thr
Uncertain significance
Multiple submitters
juvenile myelomonocytic leukemia
-
CBL p.Arg280Trp
Uncertain significance
Multiple submitters
CBL-related disorder
-
CBL p.Arg294Pro
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Arg294Trp
Uncertain significance
Multiple submitters
CBL-related disorder
-
CBL p.Arg299Cys
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Arg299Gly
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Arg299Pro
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Arg343Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Arg462Gly
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Arg480Trp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Arg499Gln
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Arg506Gly
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Arg506Leu
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Arg540Gln
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Arg550Trp
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Arg559Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Arg559Leu
Uncertain significance
Multiple submitters
B-lymphoblastic leukemia/lymphoma with hyperdiploidy
-
CBL p.Arg563Cys
Uncertain significance
Multiple submitters
Noonan syndrome and Noonan-related syndrome
-
CBL p.Arg593Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Arg612Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Arg617Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Arg617Trp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Arg631Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Arg68Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Arg68Trp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Arg718Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Arg822Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Arg829Trp
Uncertain significance
Multiple submitters
Noonan syndrome and Noonan-related syndrome
-
CBL p.Arg835Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Arg893Trp
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Arg96Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Arg96His
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Asn454Asp
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Asn616Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Asn616Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Asn616Thr
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Asn671Ser
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Asn72Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Asn754Lys
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Asn795Asp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Asn863Lys
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Asp348Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Asp388Gly
Uncertain significance
Multiple submitters
juvenile myelomonocytic leukemia
-
CBL p.Asp465Val
Uncertain significance
Multiple submitters
CBL-related disorder
-
CBL p.Asp607Glu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Asp64Glu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Asp712Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Asp727Gly
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Cys401Phe
Uncertain significance
Multiple submitters
CBL-related disorder
-
CBL p.Cys404Tyr
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Cys416Ser
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Cys421Arg
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Cys421Trp
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Cys508Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Cys508Tyr
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Cys567Ser
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Cys722Gly
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Cys729Arg
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Cys840Tyr
Uncertain significance
Multiple submitters
CBL-related disorder
-
CBL p.Gln175Glu
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Gln365Arg
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Gln490Glu
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Gln738Glu
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Gln872Glu
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Gln872Lys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Glu113Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Glu135Asp
Uncertain significance
Multiple submitters
CBL-related disorder
-
CBL p.Glu373Asp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Glu479Val
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Glu699Asp
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Glu699Gly
Uncertain significance
Multiple submitters
CBL-related disorder
-
CBL p.Glu746Asp
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Glu752Asp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Glu815Ala
Uncertain significance
Multiple submitters
CBL-related disorder
-
CBL p.Glu815Lys
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Glu834Asp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Gly19Ser
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Gly24Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Gly27Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Gly289Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Gly351Asp
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Gly3Val
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Gly415Ser
Uncertain significance
Multiple submitters
juvenile myelomonocytic leukemia
-
CBL p.Gly425Asp
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Gly440Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Gly611Arg
Uncertain significance
Multiple submitters
CBL-related disorder
-
CBL p.Gly753Ala
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Gly763Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Gly773Glu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Gly807Asp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Gly845Ser
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.His210Asp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.His213Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- CBL p.His360Tyr Uncertain significance Multiple submitters
-
CBL p.Ile157Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ile157Val
Uncertain significance
Multiple submitters
CBL-related disorder
-
CBL p.Ile199Met
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ile215Met
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ile26Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ile314Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ile318Val
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ile383Met
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ile393Thr
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ile595Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ile664Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ile673Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ile793Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ile793Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ile84Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ile84Val
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ile898Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Leu109Pro
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Leu156Arg
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Leu162Val
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Leu209Val
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Leu219Pro
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Leu28Phe
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Leu28Pro
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Leu315Phe
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Leu399Phe
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Leu399Pro
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Leu467Pro
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Leu467Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Leu516Pro
Uncertain significance
Multiple submitters
CBL-related disorder
-
CBL p.Leu533Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
Predictors split 331
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 331
-
CBL p.Ala208Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ala672Asp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Arg540Gly
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Arg550Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Arg563His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Arg593Trp
Benign/Likely benign
Multiple submitters
Cardiovascular phenotype
-
CBL p.Arg709Trp
Uncertain significance
Multiple submitters
CBL-related disorder
-
CBL p.Arg835Trp
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Arg893Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Asn150Ser
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Asn233Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Asn313Ser
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Asp31Glu
Uncertain significance
Multiple submitters
juvenile myelomonocytic leukemia
-
CBL p.Asp456Tyr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Asp541Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Asp541Val
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Asp772Val
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Asp806Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Cys567Tyr
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Gln128Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Gln207Lys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Gln345Glu
Uncertain significance
Multiple submitters
RASopathy
- CBL p.Gln875Glu Uncertain significance Multiple submitters
-
CBL p.Gln882Lys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Glu693Lys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Glu765Lys
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Glu770Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Glu862Lys
Uncertain significance
Multiple submitters
juvenile myelomonocytic leukemia
-
CBL p.Gly19Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Gly23Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Gly24Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Gly689Trp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Gly801Cys
Uncertain significance
Multiple submitters
juvenile myelomonocytic leukemia
-
CBL p.His36Pro
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.His41Tyr
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.His46Asp
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.His903Arg
Uncertain significance
Multiple submitters
Noonan syndrome and Noonan-related syndrome
-
CBL p.Ile26Thr
Uncertain significance
Multiple submitters
Noonan syndrome and Noonan-related syndrome
-
CBL p.Ile305Val
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ile383Val
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ile885Thr
Uncertain significance
Multiple submitters
CBL-related disorder
-
CBL p.Leu122Met
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Leu165Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Leu442Met
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Leu500Pro
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Leu502Phe
Uncertain significance
Multiple submitters
CBL-related disorder
-
CBL p.Leu620Phe
Benign
Multiple submitters
Cardiovascular phenotype
-
CBL p.Leu643Pro
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Leu643Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Leu654Phe
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Leu681Pro
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Leu75Val
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Lys124Asn
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Lys134Arg
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Lys166Arg
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Lys521Met
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Lys6Asn
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Met55Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Pro147Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Pro428Ser
Uncertain significance
Multiple submitters
CBL-related disorder
-
CBL p.Pro504Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Pro510Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Pro543Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Pro544Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Pro545Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Pro545Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Pro573His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Pro579Ser
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Pro580Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Pro582Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Pro582Thr
Uncertain significance
Multiple submitters
CBL-related disorder
-
CBL p.Pro592Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Pro594Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Pro599Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Pro682Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Pro684Ser
Uncertain significance
Multiple submitters
CBL-related disorder
-
CBL p.Pro779Leu
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Pro820Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Pro820Ser
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ser20Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ser216Gly
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ser252Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ser452Phe
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ser486Phe
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ser639Gly
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ser642Cys
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ser648Asn
Likely benign
Multiple submitters
RASopathy
-
CBL p.Ser652Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ser704Phe
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ser739Phe
Benign/Likely benign
Multiple submitters
CBL-related disorder
-
CBL p.Ser743Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ser794Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ser797Asn
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ser797Thr
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ser844Arg
Uncertain significance
Multiple submitters
CBL-related disorder
-
CBL p.Ser844Asn
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ser858Pro
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ser866Asn
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Ser8Asn
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Ser9Phe
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Thr640Met
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Thr645Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Thr730Met
Uncertain significance
Multiple submitters
CBL-related disorder
-
CBL p.Thr811Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Trp590Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Tyr235Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Tyr674Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Tyr731Cys
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Val212Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Val581Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
CBL p.Val683Met
Uncertain significance
Multiple submitters
RASopathy
-
CBL p.Val784Met
Uncertain significance
Multiple submitters
CBL-related disorder
-
CBL p.Ala11Asp
Uncertain significance
Single submitter
RASopathy
-
CBL p.Ala184Thr
Uncertain significance
Single submitter
RASopathy
-
CBL p.Ala187Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
CBL p.Ala193Val
Uncertain significance
Single submitter
RASopathy
-
CBL p.Ala310Gly
Uncertain significance
Single submitter
RASopathy
-
CBL p.Ala310Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
CBL p.Ala310Val
Conflicting
Single submitter
RASopathy
-
CBL p.Ala32Thr
Uncertain significance
Single submitter
RASopathy
-
CBL p.Ala850Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
CBL p.Ala905Asp
Uncertain significance
Single submitter
RASopathy
-
CBL p.Arg343Gln
Conflicting
Single submitter
juvenile myelomonocytic leukemia
-
CBL p.Arg585Cys
Conflicting
Single submitter
Noonan syndrome and Noonan-related syndrome
-
CBL p.Arg617Gln
Likely benign
Single submitter
RASopathy
-
CBL p.Arg706Trp
Uncertain significance
Single submitter
RASopathy
-
CBL p.Arg787Cys
Conflicting
Single submitter
Noonan syndrome and Noonan-related syndrome
-
CBL p.Arg788Gln
Conflicting
Single submitter
Cardiovascular phenotype
-
CBL p.Arg822Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
CBL p.Asn144His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
CBL p.Asn72Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
CBL p.Asp435Asn
Uncertain significance
Single submitter
Cardiovascular phenotype
-
CBL p.Asp460Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
CBL p.Asp549Ala
Uncertain significance
Single submitter
RASopathy
-
CBL p.Asp588Tyr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
CBL p.Asp644Tyr
Likely pathogenic
Single submitter
Noonan syndrome and Noonan-related syndrome
- CBL p.Asp644Val Uncertain significance Single submitter
-
CBL p.Asp771Val
Conflicting
Single submitter
Noonan syndrome and Noonan-related syndrome
-
CBL p.Asp772Asn
Uncertain significance
Single submitter
RASopathy
-
CBL p.Asp775Asn
Uncertain significance
Single submitter
RASopathy
-
CBL p.Gln146His
Uncertain significance
Single submitter
RASopathy
-
CBL p.Gln175Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
- CBL p.Gln175His Uncertain significance Single submitter
-
CBL p.Gln345Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
CBL p.Gln358Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
CBL p.Gln365Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
CBL p.Gln414Glu
Uncertain significance
Single submitter
RASopathy
-
CBL p.Gln875Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
CBL p.Glu188Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
CBL p.Glu211Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
All CBL variants
Pathogenic 11
- c.1096-1G>T Multiple submitters CBL-related disorder
- c.1096-2A>T Multiple submitters CBL-related disorder
- p.Tyr371Cys Multiple submitters RASopathy
- c.1221_1227+20del Single submitter
- c.1227+2_1227+3delTACinsAAG Single submitter RASopathy
- c.1227+2_1227+4delinsAAG Single submitter RASopathy
- p.Asp359_Lys362del Single submitter RASopathy
- p.Met400Arg Single submitter
- p.Tyr102Ter Single submitter CBL-related disorder
- p.Tyr368_Glu369del Single submitter
- p.Asp390Tyr No assertion criteria CBL-related disorder
Pathogenic/Likely pathogenic 11
- c.1096-1G>C Multiple submitters CBL-related disorder
- c.1096-4_1096-1del Multiple submitters CBL-related disorder
- c.1228-2A>G Multiple submitters CBL-related disorder
- p.Arg420Gln Multiple submitters CBL-related disorder
- p.Gln367del Multiple submitters CBL-related disorder
- p.Gln367Pro Multiple submitters CBL-related disorder
- p.Lys389Thr Multiple submitters Inborn genetic diseases
- p.Tyr371Asn Multiple submitters CBL-related disorder
- p.Tyr371Asp Multiple submitters CBL-related disorder
- p.Tyr371His Multiple submitters CBL-related disorder
- p.Tyr371Ser Multiple submitters RASopathy
Likely pathogenic 14
- p.Arg420Leu Multiple submitters RASopathy
- p.Gln367Arg Multiple submitters RASopathy
- c.1007+2T>A Single submitter CBL-related disorder
- c.1228-2A>C Single submitter
- p.Arg506Ter Single submitter Noonan syndrome and Noonan-related syndrome
- p.Asp644Tyr Single submitter Noonan syndrome and Noonan-related syndrome ⚠
- p.Cys381Phe Single submitter
- p.Gly413Cys Single submitter
- p.His398Asn Single submitter RASopathy
- p.Ile393Asn Single submitter
- p.Leu370_Tyr371insLeu Single submitter Cardiovascular phenotype
- p.Tyr371del Single submitter RASopathy
- p.Tyr371Phe Single submitter RASopathy
- c.1096-6_1101delinsATTATGAATTTTTTTAAAT No assertion criteria CBL-related disorder
Conflicting classifications of pathogenicity 118
- c.1095+18_1095+19delinsGT Single submitter RASopathy
- c.1096-20T>C Single submitter RASopathy
- c.1228-1G>A Single submitter CBL-related disorder
- c.1564-13_1564-3del Single submitter RASopathy
- c.195+3G>A Single submitter Noonan syndrome and Noonan-related syndrome
- c.2036+9G>T Single submitter Noonan syndrome and Noonan-related syndrome
- c.444-9dup Single submitter RASopathy
- c.590+20A>T Single submitter RASopathy
- c.591-8C>T Single submitter RASopathy
- c.747+10_747+11insTTAT Single submitter Noonan syndrome and Noonan-related syndrome
- c.869+15G>A Single submitter CBL-related disorder
- c.-126_-125insTGG Single submitter Noonan syndrome and Noonan-related syndrome
- c.-127_-125GGC[12] Single submitter Noonan syndrome and Noonan-related syndrome
- c.-127_-125GGC[13] Single submitter Noonan syndrome and Noonan-related syndrome
- c.-127_-125GGC[8] Single submitter Noonan syndrome and Noonan-related syndrome
- c.-5A>G Single submitter Cardiovascular phenotype
- c.*1918C>T Single submitter CBL-related disorder
- c.*2224A>G Single submitter CBL-related disorder
- c.*615C>T Single submitter CBL-related disorder
- c.*6575G>C Single submitter CBL-related disorder
- c.*6703T>C Single submitter CBL-related disorder
- c.*918T>C Single submitter CBL-related disorder
- p.Ala310Val Single submitter RASopathy ⚠
- p.Ala522= Single submitter Cardiovascular phenotype
- p.Ala602Ser Single submitter RASopathy ⚠
- p.Ala678= Single submitter Cardiovascular phenotype
- p.Ala741Val Single submitter RASopathy ⚠
- p.Arg149Gln Single submitter RASopathy ⚠
- p.Arg280Gln Single submitter RASopathy ⚠
- p.Arg343Gln Single submitter juvenile myelomonocytic leukemia ⚠
- p.Arg343Ter Single submitter juvenile myelomonocytic leukemia
- p.Arg420Pro Single submitter RASopathy ⚠
- p.Arg480Gln Single submitter Cardiovascular phenotype ⚠
- p.Arg559Gln Single submitter juvenile myelomonocytic leukemia ⚠
- p.Arg575Gly Single submitter Growth failure in early childhood ⚠
- p.Arg585Cys Single submitter Noonan syndrome and Noonan-related syndrome ⚠
- p.Arg585His Single submitter Cardiovascular phenotype ⚠
- p.Arg585Leu Single submitter CBL-related disorder ⚠
- p.Arg709Gln Single submitter Cardiovascular phenotype ⚠
- p.Arg787Cys Single submitter Noonan syndrome and Noonan-related syndrome ⚠
- p.Arg787His Single submitter RASopathy ⚠
- p.Arg788Gln Single submitter Cardiovascular phenotype ⚠
- p.Arg829Gln Single submitter CBL-related disorder ⚠
- p.Asn344Ser Single submitter RASopathy ⚠
- p.Asn736Asp Single submitter RASopathy ⚠
- p.Asn863Ser Single submitter CBL-related disorder ⚠
- p.Asp390Val Single submitter RASopathy ⚠
- p.Asp432= Single submitter Cardiovascular phenotype
- p.Asp771Val Single submitter Noonan syndrome and Noonan-related syndrome ⚠
- p.Cys381Arg Single submitter RASopathy ⚠
- p.Cys384Arg Single submitter RASopathy ⚠
- p.Cys396Arg Single submitter RASopathy ⚠
- p.Cys401Arg Single submitter CBL-related disorder ⚠
- p.Cys404Arg Single submitter RASopathy ⚠
- p.Cys416Arg Single submitter RASopathy ⚠
- p.Cys840Trp Single submitter Cardiovascular phenotype ⚠
- p.Gln367Lys Single submitter Inborn genetic diseases ⚠
- p.Gln490= Single submitter Cardiovascular phenotype
- p.Glu220= Single submitter RASopathy
- p.Glu386Lys Single submitter RASopathy ⚠
- p.Glu695Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu696Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu746Lys Single submitter RASopathy ⚠
- p.Gly16= Single submitter RASopathy
- p.Gly24Ala Single submitter Cardiovascular phenotype ⚠
- p.Gly413Arg Single submitter CBL-related disorder ⚠
- p.Gly415Cys Single submitter RASopathy ⚠
- p.Gly440= Single submitter Cardiovascular phenotype
- p.Gly475Ser Single submitter RASopathy ⚠
- p.Gly838Val Single submitter RASopathy ⚠
- p.His398Arg Single submitter CBL-related disorder ⚠
- p.His398Tyr Single submitter RASopathy ⚠
- p.His41_His42dup Single submitter RASopathy
- p.His42del Single submitter CBL-related disorder
- p.His42Leu Single submitter Cardiovascular phenotype ⚠
- p.Ile199Val Single submitter Cardiovascular phenotype ⚠
- p.Ile744Val Single submitter Cardiovascular phenotype ⚠
- p.Leu380Pro Single submitter CBL-related disorder ⚠
- p.Leu493Phe Single submitter CBL-related disorder ⚠
- p.Leu624Phe Single submitter RASopathy ⚠
- p.Leu624Ser Single submitter Cardiovascular phenotype ⚠
- p.Leu77= Single submitter Cardiovascular phenotype
- p.Lys382Glu Single submitter RASopathy ⚠
- p.Lys389Glu Single submitter RASopathy ⚠
- p.Lys577Glu Single submitter RASopathy ⚠
- p.Lys685= Single submitter RASopathy
- p.Lys889Arg Single submitter RASopathy ⚠
- p.Met222Leu Single submitter RASopathy ⚠
- p.Phe284= Single submitter CBL-related disorder
- p.Phe485Leu Single submitter CBL-related disorder ⚠
- p.Pro453Ser Single submitter RASopathy ⚠
- p.Pro510Ala Single submitter CBL-related disorder ⚠
- p.Pro546Leu Single submitter RASopathy ⚠
- p.Pro592= Single submitter RASopathy
- p.Pro684= Single submitter RASopathy
- p.Pro687Leu Single submitter CBL-related disorder ⚠
- p.Pro688Ser Single submitter CBL-related disorder ⚠
- p.Pro703Ala Single submitter ⚠
- p.Pro707Leu Single submitter RASopathy ⚠
- p.Pro782Leu Single submitter CBL-related disorder ⚠
- p.Pro828= Single submitter CBL-related disorder
- p.Pro828Ser Single submitter RASopathy ⚠
- p.Ser407Tyr Single submitter RASopathy ⚠
- p.Ser642Asn Single submitter RASopathy ⚠
- p.Ser642Ile Single submitter RASopathy ⚠
- p.Ser648Arg Single submitter Noonan syndrome and Noonan-related syndrome ⚠
- p.Ser794Phe Single submitter RASopathy ⚠
- p.Ser817= Single submitter Cardiovascular phenotype
- p.Ser839Thr Single submitter RASopathy ⚠
- p.Ser844Gly Single submitter Cardiovascular phenotype ⚠
- p.Thr273= Single submitter Cardiovascular phenotype
- p.Thr518Ala Single submitter RASopathy ⚠
- p.Thr610Lys Single submitter CBL-related disorder ⚠
- p.Trp408Arg Single submitter Cardiovascular phenotype ⚠
- p.Tyr455= Single submitter RASopathy
- p.Val478= Single submitter RASopathy
- p.Val598= Single submitter Noonan syndrome and Noonan-related syndrome
- p.Val683= Single submitter RASopathy
Benign 93
- c.1095+19G>T Multiple submitters juvenile myelomonocytic leukemia
- c.1228-20_1228-17del Multiple submitters RASopathy
- c.1432-30G>C Multiple submitters
- c.1432-61G>T Multiple submitters
- c.1564-13C>T Multiple submitters RASopathy
- c.195+13C>T Multiple submitters RASopathy
- c.195+76G>C Multiple submitters
- c.2251+126G>A Multiple submitters
- c.2251+50G>C Multiple submitters
- c.2252-152T>C Multiple submitters
- c.590+20A>G Multiple submitters RASopathy
- c.591-176A>G Multiple submitters
- c.747+79A>G Multiple submitters
- c.869+19A>G Multiple submitters juvenile myelomonocytic leukemia
- c.869+44dup Multiple submitters
- c.869+4A>G Multiple submitters Noonan syndrome and Noonan-related syndrome
- c.870-48G>C Multiple submitters CBL-related disorder
- c.-125C>T Multiple submitters CBL-related disorder
- c.*1915T>C Multiple submitters CBL-related disorder
- c.*2045A>G Multiple submitters CBL-related disorder
- c.*4085C>G Multiple submitters CBL-related disorder
- c.*4584C>A Multiple submitters CBL-related disorder
- c.*4868T>C Multiple submitters CBL-related disorder
- c.*4931T>C Multiple submitters CBL-related disorder
- c.*5907T>C Multiple submitters CBL-related disorder
- c.*6008T>C Multiple submitters CBL-related disorder
- c.*6732C>A Multiple submitters CBL-related disorder
- c.*7447A>G Multiple submitters CBL-related disorder
- c.*7559C>G Multiple submitters CBL-related disorder
- c.*7949C>A Multiple submitters CBL-related disorder
- c.*8149A>G Multiple submitters CBL-related disorder
- p.Leu620Phe Multiple submitters Cardiovascular phenotype ⚠
- p.Leu864= Multiple submitters Noonan syndrome and Noonan-related syndrome
- p.Ser171= Multiple submitters Noonan syndrome and Noonan-related syndrome
- c.1095+18T>G Single submitter
- c.1096-9dup Single submitter RASopathy
- c.1227+20insC Single submitter RASopathy
- c.1227+26T>C Single submitter
- c.1228-10insT Single submitter RASopathy
- c.1432-12del Single submitter RASopathy
- c.1432-12dup Single submitter RASopathy
- c.195+12G>T Single submitter
- c.2251+179G>A Single submitter
- c.2251+261G>A Single submitter
- c.2251+40T>G Single submitter
- c.590+222C>G Single submitter
- c.747+16del Single submitter RASopathy
- c.748-268A>G Single submitter
- c.-106G>A Single submitter CBL-related disorder
- c.-26G>C Single submitter
- c.-44AGCCG[3] Single submitter
- c.*1158A>G Single submitter CBL-related disorder
- c.*1447A>G Single submitter CBL-related disorder
- c.*1594T>A Single submitter CBL-related disorder
- c.*1686A>C Single submitter CBL-related disorder
- c.*1856T>C Single submitter CBL-related disorder
- c.*1933C>T Single submitter CBL-related disorder
- c.*2147C>G Single submitter CBL-related disorder
- c.*239A>G Single submitter CBL-related disorder
- c.*2423C>T Single submitter CBL-related disorder
- c.*2619C>T Single submitter CBL-related disorder
- c.*2697C>T Single submitter CBL-related disorder
- c.*3096C>G Single submitter CBL-related disorder
- c.*3167G>A Single submitter CBL-related disorder
- c.*329A>G Single submitter CBL-related disorder
- c.*337A>C Single submitter CBL-related disorder
- c.*3578A>T Single submitter CBL-related disorder
- c.*3656C>T Single submitter CBL-related disorder
- c.*3854G>A Single submitter CBL-related disorder
- c.*4088C>T Single submitter CBL-related disorder
- c.*4118A>G Single submitter CBL-related disorder
- c.*4302C>T Single submitter CBL-related disorder
- c.*5123C>T Single submitter CBL-related disorder
- c.*513A>G Single submitter CBL-related disorder
- c.*5648T>C Single submitter CBL-related disorder
- c.*5717T>G Single submitter CBL-related disorder
- c.*5718C>A Single submitter CBL-related disorder
- c.*5756G>A Single submitter CBL-related disorder
- c.*5811C>T Single submitter CBL-related disorder
- c.*5987A>T Single submitter CBL-related disorder
- c.*6542T>G Single submitter CBL-related disorder
- c.*6648T>G Single submitter CBL-related disorder
- c.*7143A>C Single submitter CBL-related disorder
- c.*7314T>C Single submitter CBL-related disorder
- c.*7366C>T Single submitter CBL-related disorder
- c.*7678G>A Single submitter CBL-related disorder
- c.*7903G>A Single submitter CBL-related disorder
- c.*7978A>G Single submitter CBL-related disorder
- c.*8012T>C Single submitter CBL-related disorder
- c.*8017G>A Single submitter CBL-related disorder
- c.*8048G>A Single submitter CBL-related disorder
- p.Pro495= Single submitter
- p.Pro548Leu Single submitter RASopathy
Benign/Likely benign 32
- c.1227+20dup Multiple submitters RASopathy
- c.1227+4C>T Multiple submitters CBL-related disorder
- c.1228-10dup Multiple submitters RASopathy
- c.1432-6C>T Multiple submitters RASopathy
- c.2251+14_2251+22del Multiple submitters RASopathy
- c.2252-8T>C Multiple submitters RASopathy
- c.870-19del Multiple submitters RASopathy
- c.-96G>A Multiple submitters CBL-related disorder
- c.*2176T>C Multiple submitters CBL-related disorder
- c.*3154C>T Multiple submitters CBL-related disorder
- c.*39G>A Multiple submitters CBL-related disorder
- c.*4031C>G Multiple submitters CBL-related disorder
- c.*5632C>T Multiple submitters CBL-related disorder
- c.*567G>A Multiple submitters CBL-related disorder
- p.Ala757Thr Multiple submitters juvenile myelomonocytic leukemia
- p.Ala848Thr Multiple submitters Cardiovascular phenotype
- p.Arg593Trp Multiple submitters Cardiovascular phenotype ⚠
- p.Arg822= Multiple submitters RASopathy
- p.Asn4= Multiple submitters Cardiovascular phenotype
- p.Asp460dup Multiple submitters Cardiovascular phenotype
- p.Asp549Glu Multiple submitters Noonan syndrome and Noonan-related syndrome
- p.Asp772Glu Multiple submitters CBL-related disorder
- p.His42dup Multiple submitters Noonan syndrome and Noonan-related syndrome
- p.Ile429= Multiple submitters CBL-related disorder
- p.Leu857Phe Multiple submitters RASopathy
- p.Met487Val Multiple submitters CBL-related disorder
- p.Pro453= Multiple submitters Cardiovascular phenotype
- p.Pro543= Multiple submitters RASopathy
- p.Pro547= Multiple submitters CBL-related disorder
- p.Ser739Phe Multiple submitters CBL-related disorder ⚠
- p.Thr730= Multiple submitters CBL-related disorder
- p.Val904Ile Multiple submitters CBL-related disorder
Likely benign 629
Showing the top 300 by review status; the full set is in the sitemap.
- c.1008-8C>T Multiple submitters RASopathy
- c.1228-10T>G Multiple submitters RASopathy
- c.1431+10C>T Multiple submitters RASopathy
- c.1563+16T>G Multiple submitters RASopathy
- c.1564-16C>T Multiple submitters RASopathy
- c.1564-18T>C Multiple submitters RASopathy
- c.1941+17A>T Multiple submitters RASopathy
- c.1942-17T>C Multiple submitters RASopathy
- c.1942-89T>A Multiple submitters
- c.195+12_195+13delinsTT Multiple submitters RASopathy
- c.195+14T>G Multiple submitters RASopathy
- c.2153+10C>T Multiple submitters RASopathy
- c.2154-130A>T Multiple submitters
- c.2434+15dup Multiple submitters RASopathy
- c.747+8A>T Multiple submitters RASopathy
- c.748-142G>A Multiple submitters
- c.869+10A>G Multiple submitters RASopathy
- c.869+18A>G Multiple submitters RASopathy
- c.*559_*560insC Multiple submitters Noonan syndrome and Noonan-related syndrome
- c.*560_*561insAT Multiple submitters Noonan syndrome and Noonan-related syndrome
- p.Ala11= Multiple submitters RASopathy
- p.Ala186= Multiple submitters Cardiovascular phenotype
- p.Ala187= Multiple submitters Cardiovascular phenotype
- p.Ala2= Multiple submitters RASopathy
- p.Ala208= Multiple submitters RASopathy
- p.Ala279= Multiple submitters RASopathy
- p.Ala327= Multiple submitters Cardiovascular phenotype
- p.Ala450= Multiple submitters Cardiovascular phenotype
- p.Ala488= Multiple submitters RASopathy
- p.Ala670= Multiple submitters Cardiovascular phenotype
- p.Ala733= Multiple submitters RASopathy
- p.Ala756= Multiple submitters RASopathy
- p.Ala76= Multiple submitters Cardiovascular phenotype
- p.Ala783= Multiple submitters RASopathy
- p.Ala796= Multiple submitters RASopathy
- p.Ala847= Multiple submitters RASopathy
- p.Ala853= Multiple submitters Cardiovascular phenotype
- p.Arg116= Multiple submitters Cardiovascular phenotype
- p.Arg191= Multiple submitters Cardiovascular phenotype
- p.Arg206= Multiple submitters Cardiovascular phenotype
- p.Arg256= Multiple submitters Cardiovascular phenotype
- p.Arg294= Multiple submitters RASopathy
- p.Arg420= Multiple submitters RASopathy
- p.Arg499= Multiple submitters Cardiovascular phenotype
- p.Arg550= Multiple submitters Cardiovascular phenotype
- p.Arg706= Multiple submitters Cardiovascular phenotype
- p.Asn233= Multiple submitters RASopathy
- p.Asn884= Multiple submitters Cardiovascular phenotype
- p.Asp242= Multiple submitters Cardiovascular phenotype
- p.Asp275= Multiple submitters Cardiovascular phenotype
- p.Asp330= Multiple submitters RASopathy
- p.Asp341= Multiple submitters Cardiovascular phenotype
- p.Asp460= Multiple submitters Cardiovascular phenotype
- p.Asp465= Multiple submitters Cardiovascular phenotype
- p.Asp723= Multiple submitters Cardiovascular phenotype
- p.Asp86= Multiple submitters RASopathy
- p.Cys297= Multiple submitters Cardiovascular phenotype
- p.Cys416= Multiple submitters RASopathy
- p.Cys59= Multiple submitters Cardiovascular phenotype
- p.Cys722= Multiple submitters Cardiovascular phenotype
- p.Gln207= Multiple submitters Cardiovascular phenotype
- p.Gln34= Multiple submitters Cardiovascular phenotype
- p.Gln358= Multiple submitters RASopathy
- p.Gln691= Multiple submitters RASopathy
- p.Gln724= Multiple submitters Cardiovascular phenotype
- p.Gln93= Multiple submitters RASopathy
- p.Glu394= Multiple submitters Cardiovascular phenotype
- p.Glu410= Multiple submitters RASopathy
- p.Glu427= Multiple submitters RASopathy
- p.Glu699= Multiple submitters CBL-related disorder
- p.Glu860= Multiple submitters RASopathy
- p.Gly12= Multiple submitters RASopathy
- p.Gly13= Multiple submitters Cardiovascular phenotype
- p.Gly136= Multiple submitters Cardiovascular phenotype
- p.Gly167= Multiple submitters RASopathy
- p.Gly172= Multiple submitters Cardiovascular phenotype
- p.Gly218= Multiple submitters RASopathy
- p.Gly24= Multiple submitters RASopathy
- p.Gly267= Multiple submitters Cardiovascular phenotype
- p.Gly351= Multiple submitters RASopathy
- p.Gly375= Multiple submitters RASopathy
- p.Gly397= Multiple submitters RASopathy
- p.Gly415= Multiple submitters Cardiovascular phenotype
- p.Gly638= Multiple submitters Cardiovascular phenotype
- p.Gly753= Multiple submitters RASopathy
- p.Gly773= Multiple submitters Cardiovascular phenotype
- p.Gly845= Multiple submitters Cardiovascular phenotype
- p.His320= Multiple submitters RASopathy
- p.His36= Multiple submitters Cardiovascular phenotype
- p.His40= Multiple submitters RASopathy
- p.His42= Multiple submitters Cardiovascular phenotype
- p.Ile243= Multiple submitters RASopathy
- p.Ile831= Multiple submitters Cardiovascular phenotype
- p.Ile861= Multiple submitters Cardiovascular phenotype
- p.Ile874= Multiple submitters RASopathy
- p.Ile885= Multiple submitters Cardiovascular phenotype
- p.Ile891= Multiple submitters Cardiovascular phenotype
- p.Leu132= Multiple submitters Cardiovascular phenotype
- p.Leu173= Multiple submitters RASopathy
- p.Leu209= Multiple submitters RASopathy
- p.Leu224= Multiple submitters RASopathy
- p.Leu230= Multiple submitters Cardiovascular phenotype
- p.Leu25= Multiple submitters RASopathy
- p.Leu28= Multiple submitters RASopathy
- p.Leu300= Multiple submitters RASopathy
- p.Leu315= Multiple submitters Cardiovascular phenotype
- p.Leu324= Multiple submitters RASopathy
- p.Leu370= Multiple submitters Cardiovascular phenotype
- p.Leu399= Multiple submitters Cardiovascular phenotype
- p.Leu442= Multiple submitters RASopathy
- p.Leu500= Multiple submitters Cardiovascular phenotype
- p.Leu527= Multiple submitters Cardiovascular phenotype
- p.Leu565= Multiple submitters Cardiovascular phenotype
- p.Leu586= Multiple submitters Cardiovascular phenotype
- p.Leu591= Multiple submitters RASopathy
- p.Leu624= Multiple submitters RASopathy
- p.Leu637= Multiple submitters Cardiovascular phenotype
- p.Leu643= Multiple submitters RASopathy
- p.Leu654= Multiple submitters Cardiovascular phenotype
- p.Leu708= Multiple submitters Cardiovascular phenotype
- p.Leu708Val Multiple submitters Cardiovascular phenotype
- p.Leu790= Multiple submitters Cardiovascular phenotype
- p.Leu85= Multiple submitters Cardiovascular phenotype
- p.Lys127= Multiple submitters RASopathy
- p.Lys183= Multiple submitters RASopathy
- p.Lys58= Multiple submitters Cardiovascular phenotype
- p.Phe115= Multiple submitters Cardiovascular phenotype
- p.Phe118= Multiple submitters RASopathy
- p.Phe174= Multiple submitters RASopathy
- p.Phe194= Multiple submitters RASopathy
- p.Pro340= Multiple submitters RASopathy
- p.Pro35= Multiple submitters Cardiovascular phenotype
- p.Pro357= Multiple submitters Cardiovascular phenotype
- p.Pro451= Multiple submitters Cardiovascular phenotype
- p.Pro47= Multiple submitters Cardiovascular phenotype
- p.Pro481= Multiple submitters Cardiovascular phenotype
- p.Pro484= Multiple submitters RASopathy
- p.Pro504= Multiple submitters Cardiovascular phenotype
- p.Pro510= Multiple submitters RASopathy
- p.Pro532= Multiple submitters Cardiovascular phenotype
- p.Pro537= Multiple submitters Cardiovascular phenotype
- p.Pro546= Multiple submitters RASopathy
- p.Pro551= Multiple submitters RASopathy
- p.Pro560= Multiple submitters RASopathy
- p.Pro579= Multiple submitters Cardiovascular phenotype
- p.Pro582= Multiple submitters RASopathy
- p.Pro596= Multiple submitters Cardiovascular phenotype
- p.Pro599= Multiple submitters Cardiovascular phenotype
- p.Pro625= Multiple submitters Cardiovascular phenotype
- p.Pro635= Multiple submitters RASopathy
- p.Pro653= Multiple submitters Cardiovascular phenotype
- p.Pro662= Multiple submitters RASopathy
- p.Pro764= Multiple submitters Cardiovascular phenotype
- p.Pro779= Multiple submitters Cardiovascular phenotype
- p.Pro782= Multiple submitters Cardiovascular phenotype
- p.Pro81= Multiple submitters RASopathy
- p.Pro82= Multiple submitters Cardiovascular phenotype
- p.Pro820= Multiple submitters Cardiovascular phenotype
- p.Pro823= Multiple submitters Cardiovascular phenotype
- p.Ser17= Multiple submitters Cardiovascular phenotype
- p.Ser20= Multiple submitters Cardiovascular phenotype
- p.Ser237= Multiple submitters RASopathy
- p.Ser376= Multiple submitters RASopathy
- p.Ser403= Multiple submitters RASopathy
- p.Ser407= Multiple submitters RASopathy
- p.Ser411= Multiple submitters RASopathy
- p.Ser44= Multiple submitters Cardiovascular phenotype
- p.Ser441= Multiple submitters RASopathy
- p.Ser452= Multiple submitters RASopathy
- p.Ser583= Multiple submitters Cardiovascular phenotype
- p.Ser605= Multiple submitters Cardiovascular phenotype
- p.Ser626= Multiple submitters Cardiovascular phenotype
- p.Ser639= Multiple submitters Cardiovascular phenotype
- p.Ser648Asn Multiple submitters RASopathy ⚠
- p.Ser652= Multiple submitters Cardiovascular phenotype
- p.Ser668= Multiple submitters Cardiovascular phenotype
- p.Ser748= Multiple submitters RASopathy
- p.Ser798= Multiple submitters Cardiovascular phenotype
- p.Ser897= Multiple submitters Cardiovascular phenotype
- p.Ter907= Multiple submitters RASopathy
- p.Thr108= Multiple submitters Cardiovascular phenotype
- p.Thr178= Multiple submitters Noonan syndrome and Noonan-related syndrome
- p.Thr182= Multiple submitters Cardiovascular phenotype
- p.Thr231= Multiple submitters RASopathy
- p.Thr245= Multiple submitters RASopathy
- p.Thr309= Multiple submitters RASopathy
- p.Thr317= Multiple submitters Cardiovascular phenotype
- p.Thr402= Multiple submitters RASopathy
- p.Thr406= Multiple submitters RASopathy
- p.Thr50= Multiple submitters Cardiovascular phenotype
- p.Thr518= Multiple submitters Cardiovascular phenotype
- p.Thr538= Multiple submitters Cardiovascular phenotype
- p.Thr610= Multiple submitters RASopathy
- p.Thr640= Multiple submitters RASopathy
- p.Thr645= Multiple submitters RASopathy
- p.Thr702= Multiple submitters Cardiovascular phenotype
- p.Thr745= Multiple submitters RASopathy
- p.Thr814= Multiple submitters RASopathy
- p.Thr852= Multiple submitters Cardiovascular phenotype
- p.Tyr102= Multiple submitters Cardiovascular phenotype
- p.Tyr291= Multiple submitters juvenile myelomonocytic leukemia
- p.Tyr368= Multiple submitters Cardiovascular phenotype
- p.Tyr869= Multiple submitters RASopathy
- p.Val238= Multiple submitters RASopathy
- p.Val391= Multiple submitters Cardiovascular phenotype
- p.Val509= Multiple submitters Cardiovascular phenotype
- p.Val581= Multiple submitters Cardiovascular phenotype
- p.Val655= Multiple submitters Cardiovascular phenotype
- p.Val66= Multiple submitters Cardiovascular phenotype
- p.Val67= Multiple submitters Cardiovascular phenotype
- c.1007+16A>G Single submitter RASopathy
- c.1007+19C>T Single submitter RASopathy
- c.1007+240_1007+243del Single submitter
- c.1007+9del Single submitter RASopathy
- c.1008-10C>T Single submitter RASopathy
- c.1008-11A>C Single submitter RASopathy
- c.1008-11A>G Single submitter RASopathy
- c.1008-14G>T Single submitter RASopathy
- c.1008-17T>C Single submitter RASopathy
- c.1008-18del Single submitter RASopathy
- c.1008-18G>A Single submitter RASopathy
- c.1008-20G>A Single submitter RASopathy
- c.1008-8C>G Single submitter RASopathy
- c.1095+10G>T Single submitter RASopathy
- c.1095+16C>T Single submitter RASopathy
- c.1095+17A>G Single submitter RASopathy
- c.1095+18T>C Single submitter RASopathy
- c.1096-14T>G Single submitter RASopathy
- c.1096-17A>T Single submitter RASopathy
- c.1096-18A>G Single submitter RASopathy
- c.1096-21_1096-19del Single submitter RASopathy
- c.1096-5C>T Single submitter RASopathy
- c.1096-6T>C Single submitter RASopathy
- c.1096-8A>G Single submitter RASopathy
- c.1096-9del Single submitter RASopathy
- c.1227+11A>G Single submitter RASopathy
- c.1227+14C>T Single submitter RASopathy
- c.1227+15A>G Single submitter RASopathy
- c.1227+16G>A Single submitter RASopathy
- c.1227+17C>A Single submitter RASopathy
- c.1227+17C>T Single submitter RASopathy
- c.1227+18G>A Single submitter RASopathy
- c.1227+7A>C Single submitter RASopathy
- c.1228-20A>G Single submitter RASopathy
- c.1228-6C>T Single submitter RASopathy
- c.1228-7T>C Single submitter RASopathy
- c.1431+116T>G Single submitter
- c.1431+11A>C Single submitter RASopathy
- c.1431+15T>C Single submitter RASopathy
- c.1431+17G>A Single submitter RASopathy
- c.1431+18G>A Single submitter RASopathy
- c.1431+20G>A Single submitter RASopathy
- c.1432-10T>C Single submitter RASopathy
- c.1432-11A>G Single submitter RASopathy
- c.1432-5C>G Single submitter RASopathy
- c.1432-7A>G Single submitter RASopathy
- c.1432-7A>T Single submitter RASopathy
- c.1432-7del Single submitter RASopathy
- c.1432-9G>T Single submitter RASopathy
- c.1563+11_1563+17del Single submitter RASopathy
- c.1563+13C>T Single submitter RASopathy
- c.1563+14C>T Single submitter RASopathy
- c.1563+15A>G Single submitter RASopathy
- c.1563+19C>T Single submitter RASopathy
- c.1563+22_1563+30del Single submitter RASopathy
- c.1564-11T>G Single submitter RASopathy
- c.1564-12C>T Single submitter RASopathy
- c.1564-16C>A Single submitter RASopathy
- c.1564-20C>T Single submitter RASopathy
- c.1941+10A>C Single submitter RASopathy
- c.1941+11A>C Single submitter RASopathy
- c.1941+23_1941+26del Single submitter RASopathy
- c.1942-14T>G Single submitter RASopathy
- c.1942-16T>C Single submitter RASopathy
- c.1942-18C>T Single submitter RASopathy
- c.1942-19A>G Single submitter RASopathy
- c.1942-20C>T Single submitter RASopathy
- c.1942-23C>T Single submitter
- c.1942-4C>T Single submitter RASopathy
- c.1942-7T>C Single submitter RASopathy
- c.1942-8C>T Single submitter RASopathy
- c.195+10C>A Single submitter RASopathy
- c.195+12G>C Single submitter RASopathy
- c.195+14T>C Single submitter RASopathy
- c.195+15del Single submitter RASopathy
- c.195+17del Single submitter RASopathy
- c.195+17G>A Single submitter RASopathy
- c.195+18C>T Single submitter RASopathy
- c.195+19G>T Single submitter RASopathy
- c.195+20C>T Single submitter RASopathy
- c.195+22C>T Single submitter
- c.195+7G>A Single submitter RASopathy
- c.195+8G>A Single submitter RASopathy
- c.196-11A>G Single submitter RASopathy
- c.196-12C>G Single submitter RASopathy
- c.196-16T>C Single submitter RASopathy
- c.196-19T>C Single submitter RASopathy
- c.196-4G>A Single submitter RASopathy
- c.196-6T>A Single submitter RASopathy
- c.196-6T>C Single submitter RASopathy
Uncertain significance 1391
Showing the top 300 by review status; the full set is in the sitemap.
- c.1096-7A>G Multiple submitters RASopathy
- c.1227+5G>A Multiple submitters juvenile myelomonocytic leukemia
- c.2252-2A>G Multiple submitters RASopathy
- c.2435-1_2435del Multiple submitters CBL-related disorder
- c.590+3A>C Multiple submitters CBL-related disorder
- c.747+3A>G Multiple submitters RASopathy
- c.*4877G>A Multiple submitters CBL-related disorder
- c.*560A>T Multiple submitters CBL-related disorder
- p.Ala187Val Multiple submitters Cardiovascular phenotype ⚠
- p.Ala208Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ala385Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Ala450Val Multiple submitters Cardiovascular phenotype ⚠
- p.Ala463Asp Multiple submitters RASopathy ⚠
- p.Ala488Val Multiple submitters juvenile myelomonocytic leukemia ⚠
- p.Ala513Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ala513Val Multiple submitters RASopathy ⚠
- p.Ala515Pro Multiple submitters RASopathy ⚠
- p.Ala522Val Multiple submitters RASopathy ⚠
- p.Ala556Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Ala670Val Multiple submitters RASopathy ⚠
- p.Ala672Asp Multiple submitters Cardiovascular phenotype ⚠
- p.Ala719Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Ala719Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ala733Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ala756Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Ala757Val Multiple submitters RASopathy ⚠
- p.Ala758Val Multiple submitters RASopathy ⚠
- p.Ala76Val Multiple submitters Cardiovascular phenotype ⚠
- p.Ala786Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Ala837Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ala851Ser Multiple submitters RASopathy ⚠
- p.Ala851Val Multiple submitters Cardiovascular phenotype ⚠
- p.Ala853Val Multiple submitters RASopathy ⚠
- p.Arg116Gly Multiple submitters CBL-related disorder ⚠
- p.Arg116Met Multiple submitters ⚠
- p.Arg149Ter Multiple submitters RASopathy
- p.Arg191Thr Multiple submitters juvenile myelomonocytic leukemia ⚠
- p.Arg280Trp Multiple submitters CBL-related disorder ⚠
- p.Arg294Pro Multiple submitters RASopathy ⚠
- p.Arg294Trp Multiple submitters CBL-related disorder ⚠
- p.Arg299Cys Multiple submitters RASopathy ⚠
- p.Arg299Gly Multiple submitters RASopathy ⚠
- p.Arg299Pro Multiple submitters RASopathy ⚠
- p.Arg343Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Arg462Gly Multiple submitters RASopathy ⚠
- p.Arg462Ter Multiple submitters RASopathy
- p.Arg480Trp Multiple submitters Cardiovascular phenotype ⚠
- p.Arg499Gln Multiple submitters RASopathy ⚠
- p.Arg506Gly Multiple submitters RASopathy ⚠
- p.Arg506Leu Multiple submitters RASopathy ⚠
- p.Arg540Gln Multiple submitters RASopathy ⚠
- p.Arg540Gly Multiple submitters RASopathy ⚠
- p.Arg540Ter Multiple submitters CBL-related disorder
- p.Arg550Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Arg550Trp Multiple submitters RASopathy ⚠
- p.Arg559Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Arg559Leu Multiple submitters B-lymphoblastic leukemia/lymphoma with hyperdiploidy ⚠
- p.Arg563Cys Multiple submitters Noonan syndrome and Noonan-related syndrome ⚠
- p.Arg563His Multiple submitters Cardiovascular phenotype ⚠
- p.Arg593Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Arg612Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Arg617Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Arg617Trp Multiple submitters Cardiovascular phenotype ⚠
- p.Arg631Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Arg68Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Arg68Trp Multiple submitters Cardiovascular phenotype ⚠
- p.Arg709Trp Multiple submitters CBL-related disorder ⚠
- p.Arg718Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Arg788Ter Multiple submitters RASopathy
- p.Arg822Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Arg829Trp Multiple submitters Noonan syndrome and Noonan-related syndrome ⚠
- p.Arg835Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Arg835Trp Multiple submitters RASopathy ⚠
- p.Arg893Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Arg893Trp Multiple submitters RASopathy ⚠
- p.Arg96Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Arg96His Multiple submitters RASopathy ⚠
- p.Asn150Ser Multiple submitters RASopathy ⚠
- p.Asn233Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Asn313Ser Multiple submitters RASopathy ⚠
- p.Asn454Asp Multiple submitters RASopathy ⚠
- p.Asn616Ile Multiple submitters Cardiovascular phenotype ⚠
- p.Asn616Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Asn616Thr Multiple submitters RASopathy ⚠
- p.Asn671Ser Multiple submitters RASopathy ⚠
- p.Asn72Ile Multiple submitters Cardiovascular phenotype ⚠
- p.Asn754Lys Multiple submitters RASopathy ⚠
- p.Asn795Asp Multiple submitters Cardiovascular phenotype ⚠
- p.Asn863Lys Multiple submitters RASopathy ⚠
- p.Asp31Glu Multiple submitters juvenile myelomonocytic leukemia ⚠
- p.Asp348Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Asp388Gly Multiple submitters juvenile myelomonocytic leukemia ⚠
- p.Asp456Tyr Multiple submitters Cardiovascular phenotype ⚠
- p.Asp460del Multiple submitters RASopathy
- p.Asp465Val Multiple submitters CBL-related disorder ⚠
- p.Asp541Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Asp541Val Multiple submitters RASopathy ⚠
- p.Asp607Glu Multiple submitters Cardiovascular phenotype ⚠
- p.Asp64Glu Multiple submitters Cardiovascular phenotype ⚠
- p.Asp712Val Multiple submitters Cardiovascular phenotype ⚠
- p.Asp727Gly Multiple submitters RASopathy ⚠
- p.Asp772Val Multiple submitters RASopathy ⚠
- p.Asp806Val Multiple submitters Cardiovascular phenotype ⚠
- p.Cys401Phe Multiple submitters CBL-related disorder ⚠
- p.Cys404Tyr Multiple submitters RASopathy ⚠
- p.Cys416Ser Multiple submitters RASopathy ⚠
- p.Cys421Arg Multiple submitters RASopathy ⚠
- p.Cys421Trp Multiple submitters RASopathy ⚠
- p.Cys508Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Cys508Tyr Multiple submitters RASopathy ⚠
- p.Cys567Ser Multiple submitters RASopathy ⚠
- p.Cys567Tyr Multiple submitters RASopathy ⚠
- p.Cys722Gly Multiple submitters RASopathy ⚠
- p.Cys729Arg Multiple submitters RASopathy ⚠
- p.Cys840Tyr Multiple submitters CBL-related disorder ⚠
- p.Gln128Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Gln175Glu Multiple submitters RASopathy ⚠
- p.Gln207Lys Multiple submitters Cardiovascular phenotype ⚠
- p.Gln345Glu Multiple submitters RASopathy ⚠
- p.Gln365Arg Multiple submitters RASopathy ⚠
- p.Gln490Glu Multiple submitters RASopathy ⚠
- p.Gln738Glu Multiple submitters RASopathy ⚠
- p.Gln867Ter Multiple submitters RASopathy
- p.Gln872Glu Multiple submitters RASopathy ⚠
- p.Gln872Lys Multiple submitters Cardiovascular phenotype ⚠
- p.Gln875Glu Multiple submitters ⚠
- p.Gln882Lys Multiple submitters Cardiovascular phenotype ⚠
- p.Glu113Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Glu135Asp Multiple submitters CBL-related disorder ⚠
- p.Glu373Asp Multiple submitters Cardiovascular phenotype ⚠
- p.Glu479Val Multiple submitters RASopathy ⚠
- p.Glu693Lys Multiple submitters Cardiovascular phenotype ⚠
- p.Glu699Asp Multiple submitters RASopathy ⚠
- p.Glu699Gly Multiple submitters CBL-related disorder ⚠
- p.Glu746Asp Multiple submitters RASopathy ⚠
- p.Glu752Asp Multiple submitters Cardiovascular phenotype ⚠
- p.Glu765Lys Multiple submitters RASopathy ⚠
- p.Glu770Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Glu815Ala Multiple submitters CBL-related disorder ⚠
- p.Glu815Lys Multiple submitters RASopathy ⚠
- p.Glu834Asp Multiple submitters Cardiovascular phenotype ⚠
- p.Glu862Lys Multiple submitters juvenile myelomonocytic leukemia ⚠
- p.Gly19Ser Multiple submitters RASopathy ⚠
- p.Gly19Val Multiple submitters Cardiovascular phenotype ⚠
- p.Gly23Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Gly24Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Gly24Val Multiple submitters Cardiovascular phenotype ⚠
- p.Gly27Val Multiple submitters Cardiovascular phenotype ⚠
- p.Gly289Val Multiple submitters Cardiovascular phenotype ⚠
- p.Gly351Asp Multiple submitters RASopathy ⚠
- p.Gly3Val Multiple submitters RASopathy ⚠
- p.Gly415Ser Multiple submitters juvenile myelomonocytic leukemia ⚠
- p.Gly425Asp Multiple submitters RASopathy ⚠
- p.Gly440Val Multiple submitters Cardiovascular phenotype ⚠
- p.Gly611Arg Multiple submitters CBL-related disorder ⚠
- p.Gly689Trp Multiple submitters Cardiovascular phenotype ⚠
- p.Gly753Ala Multiple submitters RASopathy ⚠
- p.Gly763Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Gly773Glu Multiple submitters Cardiovascular phenotype ⚠
- p.Gly801Cys Multiple submitters juvenile myelomonocytic leukemia ⚠
- p.Gly807Asp Multiple submitters Cardiovascular phenotype ⚠
- p.Gly845Ser Multiple submitters RASopathy ⚠
- p.His210Asp Multiple submitters Cardiovascular phenotype ⚠
- p.His213Gln Multiple submitters Cardiovascular phenotype ⚠
- p.His360Tyr Multiple submitters ⚠
- p.His36Pro Multiple submitters RASopathy ⚠
- p.His40_His42del Multiple submitters RASopathy
- p.His41_His42del Multiple submitters RASopathy
- p.His41Tyr Multiple submitters RASopathy ⚠
- p.His46Asp Multiple submitters RASopathy ⚠
- p.His903Arg Multiple submitters Noonan syndrome and Noonan-related syndrome ⚠
- p.Ile157Met Multiple submitters Cardiovascular phenotype ⚠
- p.Ile157Val Multiple submitters CBL-related disorder ⚠
- p.Ile199Met Multiple submitters RASopathy ⚠
- p.Ile215Met Multiple submitters RASopathy ⚠
- p.Ile26Met Multiple submitters Cardiovascular phenotype ⚠
- p.Ile26Thr Multiple submitters Noonan syndrome and Noonan-related syndrome ⚠
- p.Ile305Val Multiple submitters RASopathy ⚠
- p.Ile314Val Multiple submitters Cardiovascular phenotype ⚠
- p.Ile318Val Multiple submitters RASopathy ⚠
- p.Ile383Met Multiple submitters RASopathy ⚠
- p.Ile383Val Multiple submitters RASopathy ⚠
- p.Ile393Thr Multiple submitters RASopathy ⚠
- p.Ile595Val Multiple submitters Cardiovascular phenotype ⚠
- p.Ile664fs Multiple submitters CBL-related disorder
- p.Ile664Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ile673Val Multiple submitters Cardiovascular phenotype ⚠
- p.Ile793Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ile793Val Multiple submitters Cardiovascular phenotype ⚠
- p.Ile84Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ile84Val Multiple submitters RASopathy ⚠
- p.Ile885Thr Multiple submitters CBL-related disorder ⚠
- p.Ile898Val Multiple submitters Cardiovascular phenotype ⚠
- p.Leu109Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Leu122Met Multiple submitters RASopathy ⚠
- p.Leu156Arg Multiple submitters RASopathy ⚠
- p.Leu162Val Multiple submitters RASopathy ⚠
- p.Leu165Val Multiple submitters Cardiovascular phenotype ⚠
- p.Leu209Val Multiple submitters RASopathy ⚠
- p.Leu219Pro Multiple submitters RASopathy ⚠
- p.Leu28Phe Multiple submitters RASopathy ⚠
- p.Leu28Pro Multiple submitters RASopathy ⚠
- p.Leu315Phe Multiple submitters RASopathy ⚠
- p.Leu399Phe Multiple submitters RASopathy ⚠
- p.Leu399Pro Multiple submitters RASopathy ⚠
- p.Leu442Met Multiple submitters RASopathy ⚠
- p.Leu467Pro Multiple submitters RASopathy ⚠
- p.Leu467Val Multiple submitters Cardiovascular phenotype ⚠
- p.Leu500Pro Multiple submitters RASopathy ⚠
- p.Leu502Phe Multiple submitters CBL-related disorder ⚠
- p.Leu516Pro Multiple submitters CBL-related disorder ⚠
- p.Leu533Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Leu539Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Leu62His Multiple submitters RASopathy ⚠
- p.Leu62Val Multiple submitters Cardiovascular phenotype ⚠
- p.Leu643Pro Multiple submitters RASopathy ⚠
- p.Leu643Val Multiple submitters Cardiovascular phenotype ⚠
- p.Leu654Phe Multiple submitters RASopathy ⚠
- p.Leu681_Pro682delinsGluAla Multiple submitters RASopathy
- p.Leu681Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Leu686Val Multiple submitters RASopathy ⚠
- p.Leu75Val Multiple submitters RASopathy ⚠
- p.Leu790Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Leu805_Asp806insVal Multiple submitters RASopathy
- p.Leu805Val Multiple submitters Cardiovascular phenotype ⚠
- p.Leu99Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Lys124Asn Multiple submitters Cardiovascular phenotype ⚠
- p.Lys134Arg Multiple submitters RASopathy ⚠
- p.Lys134Glu Multiple submitters Cardiovascular phenotype ⚠
- p.Lys153Arg Multiple submitters RASopathy ⚠
- p.Lys153Glu Multiple submitters RASopathy ⚠
- p.Lys166Arg Multiple submitters RASopathy ⚠
- p.Lys166Asn Multiple submitters RASopathy ⚠
- p.Lys521Glu Multiple submitters Cardiovascular phenotype ⚠
- p.Lys521Met Multiple submitters RASopathy ⚠
- p.Lys529Glu Multiple submitters Cardiovascular phenotype ⚠
- p.Lys53Arg Multiple submitters RASopathy ⚠
- p.Lys597Arg Multiple submitters RASopathy ⚠
- p.Lys597Glu Multiple submitters Cardiovascular phenotype ⚠
- p.Lys597Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Lys685Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Lys685Glu Multiple submitters Cardiovascular phenotype ⚠
- p.Lys6Asn Multiple submitters Cardiovascular phenotype ⚠
- p.Lys6Gln Multiple submitters Noonan syndrome and Noonan-related syndrome ⚠
- p.Met119Val Multiple submitters Noonan syndrome and Noonan-related syndrome ⚠
- p.Met123Val Multiple submitters Cardiovascular phenotype ⚠
- p.Met140Ile Multiple submitters RASopathy ⚠
- p.Met161Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Met161Val Multiple submitters Cardiovascular phenotype ⚠
- p.Met222Thr Multiple submitters RASopathy ⚠
- p.Met222Val Multiple submitters Cardiovascular phenotype ⚠
- p.Met269Val Multiple submitters RASopathy ⚠
- p.Met29Val Multiple submitters RASopathy ⚠
- p.Met400Leu Multiple submitters RASopathy ⚠
- p.Met400Thr Multiple submitters CBL-related disorder ⚠
- p.Met469Thr Multiple submitters RASopathy ⚠
- p.Met487Thr Multiple submitters RASopathy ⚠
- p.Met55Ile Multiple submitters Cardiovascular phenotype ⚠
- p.Met649Thr Multiple submitters CBL-related disorder ⚠
- p.Met649Val Multiple submitters CBL-related disorder ⚠
- p.Met701Val Multiple submitters RASopathy ⚠
- p.Phe118Tyr Multiple submitters Cardiovascular phenotype ⚠
- p.Phe158Ser Multiple submitters RASopathy ⚠
- p.Phe174Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Phe418Ser Multiple submitters juvenile myelomonocytic leukemia ⚠
- p.Phe468fs Multiple submitters RASopathy
- p.Phe800Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Phe800Ser Multiple submitters RASopathy ⚠
- p.Phe895Ser Multiple submitters RASopathy ⚠
- p.Pro147Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Pro347Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Pro417Ser Multiple submitters RASopathy ⚠
- p.Pro428Ser Multiple submitters CBL-related disorder ⚠
- p.Pro433Gln Multiple submitters juvenile myelomonocytic leukemia ⚠
- p.Pro433Leu Multiple submitters Noonan syndrome and Noonan-related syndrome ⚠
- p.Pro436Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Pro451Ala Multiple submitters RASopathy ⚠
- p.Pro453Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Pro48Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Pro494Ala Multiple submitters RASopathy ⚠
- p.Pro494Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Pro495Leu Multiple submitters RASopathy ⚠
- p.Pro504Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Pro510Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Pro543Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Pro544Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Pro545Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Pro545Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Pro548Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Pro551Ser Multiple submitters RASopathy ⚠
- p.Pro566Arg Multiple submitters RASopathy ⚠
- p.Pro569del Multiple submitters CBL-related disorder
- p.Pro573His Multiple submitters Cardiovascular phenotype ⚠
- p.Pro573Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Pro579Ser Multiple submitters RASopathy ⚠
- p.Pro580Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Pro582Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Pro582Thr Multiple submitters CBL-related disorder ⚠
- p.Pro592Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Pro594Leu Multiple submitters Cardiovascular phenotype ⚠