HRAS — 652 ClinVar variants
All ClinVar germline HRAS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 240 flagged for review →
20 Pathogenic · 7 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 24 Conflicting · 34 Benign · 4 Benign/Likely benign · 243 Likely benign · 298 Uncertain significance
Full HRAS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 240
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
HRAS p.Ala130Pro
Conflicting
Single submitter
Costello syndrome
-
HRAS p.Arg164Gln
Conflicting
Single submitter
HRAS-related disorder
-
HRAS p.Arg41Gln
Conflicting
Single submitter
Costello syndrome
-
HRAS p.Arg68Trp
Conflicting
Single submitter
Costello syndrome
-
HRAS p.Ile46Thr
Conflicting
Single submitter
Costello syndrome
-
HRAS p.Met182Ile
Conflicting
Single submitter
nevus, epidermal
Predictors lean, ClinVar uncertain 152
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 152
-
HRAS p.Ala11Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
HRAS p.Ala130Val
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Ala134Val
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Ala59Ser
Uncertain significance
Multiple submitters
Noonan syndrome and Noonan-related syndrome
-
HRAS p.Arg102Trp
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Arg123Cys
Uncertain significance
Multiple submitters
thyroid cancer, nonmedullary, 2
-
HRAS p.Arg123Pro
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
HRAS p.Arg149Gln
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Arg149Trp
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Arg161Cys
Uncertain significance
Multiple submitters
large congenital melanocytic nevus
-
HRAS p.Arg161His
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Arg164Pro
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Arg164Trp
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Arg68Gln
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Arg68Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
HRAS p.Cys184Gly
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Cys80Ser
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Glu143Gln
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Glu162Lys
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Gly151Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
HRAS p.Gly180Ser
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Ile142Leu
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Ile142Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
HRAS p.Leu133His
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Met182Val
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Met72Leu
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Phe90Ser
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Pro140Leu
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Pro179Ser
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Ser106Trp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
HRAS p.Ser65Asn
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Thr74Ile
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Tyr137Ser
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Tyr141Cys
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Tyr4Cys
Uncertain significance
Multiple submitters
urinary bladder cancer
-
HRAS p.Tyr4Ser
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Val103Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
HRAS p.Val114Met
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Val152Met
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Val45Asp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
HRAS p.Ala122Thr
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ala134Thr
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ala155Thr
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ala155Val
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ala66Val
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ala83Thr
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Arg102Gln
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Arg123Gly
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Arg123His
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Arg149Leu
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Arg161Gly
Uncertain significance
Single submitter
hereditary neoplastic syndrome
-
HRAS p.Arg41Pro
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Arg68Leu
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Arg73Cys
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Arg73His
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Asn116Ser
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Asn172Ser
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Asp105Asn
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Asp105His
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Asp30Asn
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Asp33Asn
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Asp33Glu
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Asp33Tyr
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Asp47Asn
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Asp92Ala
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Cys184Ser
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Cys51Arg
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gln131Glu
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gln165Lys
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gln25Arg
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gln43His
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gln61Leu
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gln99Glu
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gln99His
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Glu143Asp
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Glu143Lys
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Glu162Asp
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Glu31Gln
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Glu49Gly
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Glu49Lys
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Glu63Asp
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Glu98Lys
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gly115Arg
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gly138Val
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gly151Arg
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gly15Ala
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gly15Val
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gly178Arg
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gly178Ser
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gly60Arg
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gly75Arg
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gly77Asp
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.His166Tyr
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ile139Phe
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ile142Phe
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ile142Val
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ile163Met
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ile163Phe
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ile36Thr
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ile36Val
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ile46Met
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ile84Val
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ile93Thr
Uncertain significance
Single submitter
parathyroid gland adenoma
-
HRAS p.Leu159Phe
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Leu159Ser
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Leu171Val
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Leu19Met
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Leu53Trp
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Leu79Gln
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Lys101Ile
Uncertain significance
Single submitter
Cardiovascular phenotype
-
HRAS p.Lys167Arg
Uncertain significance
Single submitter
Costello syndrome
- HRAS p.Lys16Asn Uncertain significance Single submitter
-
HRAS p.Lys170Arg
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Lys88Glu
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Met111Thr
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Met182Leu
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Met182Thr
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Met67Ile
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Met72Thr
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Phe82Cys
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Phe82Ser
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Pro110Leu
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Pro34Leu
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ser177Asn
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ser177Thr
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ser39Thr
Uncertain significance
Single submitter
Costello syndrome
- HRAS p.Ser65Arg Uncertain significance Single submitter
-
HRAS p.Thr20Ile
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Thr2Met
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Thr35Ala
Uncertain significance
Single submitter
Costello syndrome
- HRAS p.Thr35Ile Uncertain significance Single submitter
-
HRAS p.Thr74Ala
Uncertain significance
Single submitter
Costello syndrome
- HRAS p.Tyr4His Uncertain significance Single submitter
-
HRAS p.Tyr71His
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Val103Leu
Uncertain significance
Single submitter
Costello syndrome
- HRAS p.Val109Ala Uncertain significance Single submitter
-
HRAS p.Val109Leu
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Val109Met
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Val125Ala
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Val125Gly
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Val14Gly
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Val160Ala
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Val160Gly
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Val160Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
HRAS p.Val44Ala
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Val7Leu
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Val8Gly
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Asp57Ala
Uncertain significance
No assertion criteria
prostate cancer, hereditary, 1
-
HRAS p.Gly15Asp
Uncertain significance
No assertion criteria
Vascular Tumors Including Pyogenic Granuloma
-
HRAS p.Met67Leu
Uncertain significance
No assertion criteria
prostate cancer, hereditary, 1
Predictors split 82
The independent predictors disagree with each other — read with care.
-
HRAS p.Asn86Thr
Benign
Expert panel
RASopathy
-
HRAS p.Gly138Ser
Uncertain significance
Expert panel
RASopathy
-
HRAS p.Ile93Val
Uncertain significance
Expert panel
RASopathy
-
HRAS p.Pro174Ser
Benign
Expert panel
RASopathy
-
HRAS p.Ala121Val
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Arg169Gln
Uncertain significance
Multiple submitters
HRAS-related disorder
-
HRAS p.Arg169Trp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
HRAS p.Glu126Gln
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.His166Arg
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.His94Gln
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Ile46Val
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Leu168Pro
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Lys88Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
HRAS p.Met111Leu
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Pro173Leu
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Pro173Ser
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Pro174Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
HRAS p.Pro179Leu
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Ser127Pro
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
HRAS p.Thr124Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
HRAS p.Thr158Met
Uncertain significance
Multiple submitters
Costello syndrome
-
HRAS p.Ala121Asp
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ala121Thr
Conflicting
Single submitter
ovarian cancer
-
HRAS p.Ala122Val
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ala155Ser
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Arg128Gln
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Arg128Leu
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Arg128Pro
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Arg128Trp
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Arg135Gln
Uncertain significance
Single submitter
Costello syndrome
- HRAS p.Arg135Gly Uncertain significance Single submitter
-
HRAS p.Arg169Leu
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Asn172Lys
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Asn85Asp
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Asp107Asn
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Asp108Gly
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Asp132Asn
Conflicting
Single submitter
Costello syndrome
-
HRAS p.Asp132Gly
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Asp154Asn
Conflicting
Single submitter
Cardiovascular phenotype
-
HRAS p.Asp154Val
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Asp92Asn
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Cys181Tyr
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Cys184Tyr
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gln129Arg
Conflicting
Single submitter
HRAS-related disorder
-
HRAS p.Gln95Arg
Likely benign
Single submitter
Costello syndrome
-
HRAS p.Gln95His
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Glu126Gly
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Glu162Gln
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Glu49Gln
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gly138Arg
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gly138Asp
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gly180Arg
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Gly180Asp
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.His94Tyr
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ile142Thr
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Leu120Val
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Leu133Phe
Conflicting
Single submitter
Cardiovascular phenotype
-
HRAS p.Lys101Arg
Conflicting
Single submitter
Costello syndrome
-
HRAS p.Met111Val
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Pro140Ser
Conflicting
Single submitter
Costello syndrome
-
HRAS p.Pro173Arg
Likely benign
Single submitter
Costello syndrome
-
HRAS p.Pro174His
Uncertain significance
Single submitter
Noonan syndrome and Noonan-related syndrome
-
HRAS p.Ser106Leu
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ser136Asn
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ser136Gly
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ser136Thr
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ser183Asn
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ser189Ala
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Ser189Phe
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Thr148Ser
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Thr158Arg
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Thr158Lys
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Thr2Ala
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Thr2Arg
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Thr50Met
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Thr74Ser
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Thr87Asn
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Thr87Ile
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Tyr157His
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Val187Ala
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Val187Met
Uncertain significance
Single submitter
Costello syndrome
-
HRAS p.Val45Ile
Uncertain significance
Single submitter
Costello syndrome
All HRAS variants
Pathogenic 20
- p.Gly12Ser Expert panel Costello syndrome
- p.Gly13Cys Expert panel Noonan syndrome
- p.Lys117Arg Expert panel RASopathy
- p.Thr58Ile Expert panel RASopathy
- p.Ala59Gly Multiple submitters RASopathy
- p.Glu63Lys Multiple submitters Costello syndrome
- p.Gly12Ala Multiple submitters Noonan syndrome and Noonan-related syndrome
- p.Gly12Cys Multiple submitters linear nevus sebaceous syndrome
- p.Gly12Val Multiple submitters Costello syndrome
- p.Gly13Asp Multiple submitters HRAS-related disorder
- p.Gly60Asp Multiple submitters Costello syndrome
- p.Gly60Val Multiple submitters urinary bladder cancer
- p.Glu62_Arg68dup Single submitter Costello syndrome
- p.Gly77_Phe78insTrpAspGlnTyrMetArgThrGlyGluGly Single submitter HRAS-related disorder
- p.Phe156Leu Single submitter
- p.Phe156Leu Single submitter Costello syndrome
- c.110_111+1dup No assertion criteria Costello syndrome
- p.Ala146Thr No assertion criteria Costello syndrome
- p.Glu37dup No assertion criteria Costello syndrome
- p.Thr58_Ala59delinsValLeuAspVal No assertion criteria Arteriovenous malformation
Pathogenic/Likely pathogenic 7
- p.Gln61Lys Multiple submitters nevus, epidermal
- p.Gly12Asp Multiple submitters Noonan syndrome and Noonan-related syndrome
- p.Gly12Glu Multiple submitters Costello syndrome
- p.Gly13Arg Multiple submitters Noonan syndrome and Noonan-related syndrome
- p.Gly13Val Multiple submitters large congenital melanocytic nevus
- p.Leu163fs Multiple submitters Costello syndrome
- p.Met72_Arg73insProMetArgAspGlnTyrMet Multiple submitters HRAS-related disorder
Likely pathogenic 22
- p.Ala59Thr Expert panel RASopathy
- p.Ala146Val Multiple submitters Costello syndrome
- p.Gln22Lys Multiple submitters HRAS-related disorder
- p.Gln61Arg Multiple submitters urinary bladder cancer
- p.Met72_Arg73insHisSerAlaMetArgAspGlnTyrMet Multiple submitters vascular malformation
- p.Ala59_Gly60delinsSerGlyTyrIle Single submitter intramuscular hemangioma
- p.Ala59Leu Single submitter Costello syndrome
- p.Arg73_Thr74insAsnSerAlaMetArgAspGlnTyrMetArg Single submitter
- p.Arg73_Thr74insAspGlnTyrMetArg Single submitter Costello syndrome
- p.Asp57_Gln61dup Single submitter Costello syndrome
- p.Asp69_Gln70insArgTrpTyrSerAlaMetArgAsp Single submitter Arteriovenous malformation
- p.Gln61His Single submitter Noonan syndrome 3
- p.Glu63_Asp69dup Single submitter Costello syndrome
- p.Gly12Arg Single submitter Costello syndrome
- p.Gly13Ser Single submitter Costello syndrome
- p.Gly60Ser Single submitter Costello syndrome
- p.Leu23Arg Single submitter Costello syndrome
- p.Met72_Arg73insAsnSerAlaMetArgAspGlnTyrMet Single submitter vascular malformation
- p.Met72_Arg73insProAlaSerAlaMetArgAspGlnTyrMet Single submitter vascular malformation
- p.Phe78_Leu79insAspGlnTyrMetArgThrGlyGluGlyPhe Single submitter vascular malformation
- p.Ser89Cys Single submitter
- p.Tyr71_Met72insIleSerSerAlaMetArgAspGlnTyr Single submitter vascular malformation
Conflicting classifications of pathogenicity 24
- c.112-13T>A Single submitter Costello syndrome
- c.451-5C>G Single submitter Costello syndrome
- c.451-5C>T Single submitter Cardiovascular phenotype
- c.-101C>T Single submitter Noonan syndrome and Noonan-related syndrome
- p.Ala121Thr Single submitter ovarian cancer ⚠
- p.Ala130Pro Single submitter Costello syndrome ⚠
- p.Arg164Gln Single submitter HRAS-related disorder ⚠
- p.Arg41Gln Single submitter Costello syndrome ⚠
- p.Arg68Trp Single submitter Costello syndrome ⚠
- p.Asp132Asn Single submitter Costello syndrome ⚠
- p.Asp154Asn Single submitter Cardiovascular phenotype ⚠
- p.Asp57= Single submitter hereditary neoplastic syndrome
- p.Gln129Arg Single submitter HRAS-related disorder ⚠
- p.Gly15= Single submitter hereditary neoplastic syndrome
- p.Gly161Arg Single submitter Costello syndrome
- p.Ile46Thr Single submitter Costello syndrome ⚠
- p.Leu133Phe Single submitter Cardiovascular phenotype ⚠
- p.Lys101Arg Single submitter Costello syndrome ⚠
- p.Met182Ile Single submitter nevus, epidermal ⚠
- p.Pro140Ser Single submitter Costello syndrome ⚠
- p.Pro169fs Single submitter congenital fibrosis of extraocular muscles
- p.Thr158fs Single submitter Cardiovascular phenotype
- p.Thr87= Single submitter Cardiovascular phenotype
- p.Val7= Single submitter Cardiovascular phenotype
Benign 34
- c.291-6T>G Expert panel RASopathy
- p.Arg123= Expert panel RASopathy
- p.Asn86Thr Expert panel RASopathy ⚠
- p.Asp119= Expert panel RASopathy
- p.Glu126= Expert panel RASopathy
- p.His27= Expert panel RASopathy
- p.Leu159= Expert panel RASopathy
- p.Pro174Ser Expert panel RASopathy ⚠
- p.Val103= Expert panel RASopathy
- c.111+15G>A Multiple submitters Costello syndrome
- c.-10C>T Multiple submitters Noonan syndrome and Noonan-related syndrome
- c.-54+47C>T Multiple submitters
- c.*5+20C>T Multiple submitters
- c.*5+35C>T Multiple submitters
- c.111+50C>G Single submitter
- c.111+75C>G Single submitter
- c.291-30C>T Single submitter
- c.450+38C>T Single submitter
- c.450+49G>A Single submitter
- c.451-168T>G Single submitter
- c.451-224G>A Single submitter
- c.451-282C>T Single submitter
- c.-17C>T Single submitter
- c.-33G>A Single submitter
- c.-53-10T>C Single submitter
- c.-53-17A>G Single submitter
- c.-53-40_-53-29del Single submitter
- c.-53-40_-53-35del Single submitter
- c.-54+103CGG[6] Single submitter
- c.-95CGGCCC[1] Single submitter
- c.*5+14C>A Single submitter
- c.*5+24C>T Single submitter
- c.*5+29C>T Single submitter
- c.*6-48G>A Single submitter
Benign/Likely benign 4
Likely benign 243
- p.Gly12= Expert panel RASopathy
- p.Lys170= Expert panel RASopathy
- c.111+14C>T Multiple submitters Costello syndrome
- c.112-10C>T Multiple submitters Costello syndrome
- c.112-4G>A Multiple submitters Costello syndrome
- c.290+10G>A Multiple submitters Costello syndrome
- c.290+9C>T Multiple submitters Costello syndrome
- c.291-17C>G Multiple submitters Costello syndrome
- c.291-8C>T Multiple submitters Costello syndrome
- c.291-9A>G Multiple submitters Costello syndrome
- c.450+17C>T Multiple submitters Costello syndrome
- c.450+18C>T Multiple submitters Costello syndrome
- c.450+20C>A Multiple submitters Costello syndrome
- p.Ala59= Multiple submitters Cardiovascular phenotype
- p.Arg164= Multiple submitters Costello syndrome
- p.Arg41= Multiple submitters Cardiovascular phenotype
- p.Arg73= Multiple submitters Cardiovascular phenotype
- p.Asn172= Multiple submitters Costello syndrome
- p.Asn85= Multiple submitters Costello syndrome
- p.Asp105= Multiple submitters Cardiovascular phenotype
- p.Asp154= Multiple submitters Cardiovascular phenotype
- p.Asp47= Multiple submitters Cardiovascular phenotype
- p.Asp54= Multiple submitters Costello syndrome
- p.Cys51= Multiple submitters Cardiovascular phenotype
- p.Gln61= Multiple submitters Cardiovascular phenotype
- p.Gln95= Multiple submitters Costello syndrome
- p.Gln99= Multiple submitters Costello syndrome
- p.Glu49= Multiple submitters Cardiovascular phenotype
- p.Glu76= Multiple submitters Costello syndrome
- p.Gly75= Multiple submitters Costello syndrome
- p.Gly77= Multiple submitters Cardiovascular phenotype
- p.His94= Multiple submitters Cardiovascular phenotype
- p.Ile100= Multiple submitters Cardiovascular phenotype
- p.Leu120= Multiple submitters Cardiovascular phenotype
- p.Leu133= Multiple submitters Cardiovascular phenotype
- p.Leu52= Multiple submitters Cardiovascular phenotype
- p.Leu6= Multiple submitters Cardiovascular phenotype
- p.Lys104= Multiple submitters Cardiovascular phenotype
- p.Lys147= Multiple submitters Cardiovascular phenotype
- p.Lys5= Multiple submitters Cardiovascular phenotype
- p.Phe156= Multiple submitters Cardiovascular phenotype
- p.Phe28= Multiple submitters Costello syndrome
- p.Phe78= Multiple submitters Costello syndrome
- p.Pro140= Multiple submitters Costello syndrome
- p.Pro166= Multiple submitters
- p.Pro179= Multiple submitters Cardiovascular phenotype
- p.Pro34= Multiple submitters Noonan syndrome and Noonan-related syndrome
- p.Ser106= Multiple submitters Costello syndrome
- p.Ser160= Multiple submitters
- p.Thr2= Multiple submitters Cardiovascular phenotype
- p.Thr50= Multiple submitters Cardiovascular phenotype
- p.Thr58= Multiple submitters Cardiovascular phenotype
- p.Tyr141= Multiple submitters Costello syndrome
- p.Tyr32= Multiple submitters Cardiovascular phenotype
- p.Tyr40= Multiple submitters Costello syndrome
- p.Tyr64= Multiple submitters Cardiovascular phenotype
- p.Tyr71= Multiple submitters Costello syndrome
- p.Val14= Multiple submitters Cardiovascular phenotype
- p.Val45= Multiple submitters Cardiovascular phenotype
- p.Val8= Multiple submitters Costello syndrome
- c.111+10G>A Single submitter Costello syndrome
- c.111+11C>T Single submitter Costello syndrome
- c.111+12G>A Single submitter Costello syndrome
- c.111+15G>C Single submitter Costello syndrome
- c.111+17C>T Single submitter Costello syndrome
- c.111+18G>A Single submitter Costello syndrome
- c.111+7C>T Single submitter Costello syndrome
- c.111+8T>C Single submitter Costello syndrome
- c.112-10C>A Single submitter Costello syndrome
- c.112-11T>C Single submitter Costello syndrome
- c.112-12G>A Single submitter Costello syndrome
- c.112-13T>C Single submitter Costello syndrome
- c.112-14C>G Single submitter Costello syndrome
- c.112-14C>T Single submitter Costello syndrome
- c.112-17G>T Single submitter Costello syndrome
- c.112-18A>T Single submitter Costello syndrome
- c.112-19G>A Single submitter Costello syndrome
- c.112-19G>C Single submitter Costello syndrome
- c.112-20dup Single submitter Costello syndrome
- c.112-6C>T Single submitter Costello syndrome
- c.112-7_112-5del Single submitter Costello syndrome
- c.112-7C>T Single submitter Costello syndrome
- c.112-9C>G Single submitter Costello syndrome
- c.112-9C>T Single submitter Costello syndrome
- c.290+10G>C Single submitter Costello syndrome
- c.290+11T>C Single submitter Costello syndrome
- c.290+14G>A Single submitter Costello syndrome
- c.290+15G>A Single submitter Costello syndrome
- c.290+15G>C Single submitter Costello syndrome
- c.290+16C>T Single submitter Costello syndrome
- c.290+19G>C Single submitter Costello syndrome
- c.290+19G>T Single submitter Costello syndrome
- c.290+20C>T Single submitter Costello syndrome
- c.290+7C>G Single submitter Costello syndrome
- c.290+7C>T Single submitter Costello syndrome
- c.291-10C>T Single submitter Costello syndrome
- c.291-11C>A Single submitter Costello syndrome
- c.291-11C>T Single submitter Costello syndrome
- c.291-13T>G Single submitter Costello syndrome
- c.291-15C>A Single submitter Costello syndrome
- c.291-15C>G Single submitter Costello syndrome
- c.291-15C>T Single submitter Costello syndrome
- c.291-16G>A Single submitter Costello syndrome
- c.291-16G>C Single submitter Costello syndrome
- c.291-17C>T Single submitter Costello syndrome
- c.291-18T>C Single submitter Costello syndrome
- c.291-4_291-3del Single submitter Costello syndrome
- c.291-5C>G Single submitter Costello syndrome
- c.291-7C>G Single submitter Costello syndrome
- c.291-9del Single submitter Costello syndrome
- c.450+12C>T Single submitter Costello syndrome
- c.450+13T>C Single submitter Costello syndrome
- c.450+14C>T Single submitter Costello syndrome
- c.450+15C>T Single submitter Costello syndrome
- c.450+16A>G Single submitter Costello syndrome
- c.450+174G>A Single submitter
- c.450+18C>A Single submitter Costello syndrome
- c.450+19C>T Single submitter Costello syndrome
- c.450+20C>G Single submitter Costello syndrome
- c.450+20C>T Single submitter Costello syndrome
- c.450+7C>T Single submitter Costello syndrome
- c.450+9G>A Single submitter Costello syndrome
- c.451-10C>T Single submitter Costello syndrome
- c.451-12C>T Single submitter Costello syndrome
- c.451-13C>A Single submitter Costello syndrome
- c.451-13C>G Single submitter Costello syndrome
- c.451-13C>T Single submitter Costello syndrome
- c.451-14C>A Single submitter Costello syndrome
- c.451-14C>T Single submitter Costello syndrome
- c.451-15T>C Single submitter Costello syndrome
- c.451-16A>G Single submitter Costello syndrome
- c.451-17C>T Single submitter Costello syndrome
- c.451-19C>T Single submitter Costello syndrome
- c.451-20T>G Single submitter Costello syndrome
- c.451-22_451-8dup Single submitter Costello syndrome
- c.451-341G>A Single submitter
- c.451-48C>T Single submitter
- c.451-4C>G Single submitter Costello syndrome
- c.451-4C>T Single submitter Costello syndrome
- c.451-6T>C Single submitter Costello syndrome
- c.451-6T>G Single submitter Costello syndrome
- c.451-8T>C Single submitter Costello syndrome
- c.451-9C>T Single submitter Costello syndrome
- c.-19C>T Single submitter
- c.-54+7G>A Single submitter
- c.*5+14C>G Single submitter
- c.*6-2A>C Single submitter
- c.*76G>C Single submitter
- p.Ala11= Single submitter Costello syndrome
- p.Ala122= Single submitter Costello syndrome
- p.Ala130= Single submitter Costello syndrome
- p.Ala134= Single submitter Costello syndrome
- p.Ala146= Single submitter Costello syndrome
- p.Ala155= Single submitter Costello syndrome
- p.Ala66= Single submitter Costello syndrome
- p.Ala83= Single submitter Costello syndrome
- p.Arg102= Single submitter Costello syndrome
- p.Arg149= Single submitter Costello syndrome
- p.Arg161= Single submitter Costello syndrome
- p.Arg68= Single submitter Costello syndrome
- p.Arg97= Single submitter Costello syndrome
- p.Asn86= Single submitter Costello syndrome
- p.Asp107= Single submitter
- p.Asp108= Single submitter Costello syndrome
- p.Asp132= Single submitter Costello syndrome
- p.Asp154Tyr Single submitter Costello syndrome
- p.Asp165= Single submitter Costello syndrome
- p.Asp175= Single submitter Cardiovascular phenotype
- p.Asp30= Single submitter Costello syndrome
- p.Asp33= Single submitter Costello syndrome
- p.Asp38= Single submitter
- p.Asp92= Single submitter Cardiovascular phenotype
- p.Cys181= Single submitter Costello syndrome
- p.Cys186= Single submitter Costello syndrome
- p.Gln129= Single submitter Cardiovascular phenotype
- p.Gln131= Single submitter Costello syndrome
- p.Gln165= Single submitter Costello syndrome
- p.Gln22Ter Single submitter
- p.Gln25= Single submitter Costello syndrome
- p.Gln43= Single submitter
- p.Gln70= Single submitter Costello syndrome
- p.Gln95Arg Single submitter Costello syndrome ⚠
- p.Glu143= Single submitter Costello syndrome
- p.Glu153= Single submitter Costello syndrome
- p.Glu62= Single submitter
- p.Glu63= Single submitter Costello syndrome
- p.Glu91= Single submitter Costello syndrome
- p.Glu98= Single submitter Costello syndrome
- p.Gly10= Single submitter Costello syndrome
- p.Gly115= Single submitter Costello syndrome
- p.Gly138= Single submitter Costello syndrome
- p.Gly178= Single submitter Costello syndrome
- p.Gly180= Single submitter Costello syndrome
- p.Gly48= Single submitter Costello syndrome
- p.His166Gln Single submitter Costello syndrome
- p.Ile139= Single submitter Costello syndrome
- p.Ile142= Single submitter Costello syndrome
- p.Ile163= Single submitter Costello syndrome
- p.Ile46= Single submitter Costello syndrome
- p.Ile55= Single submitter Costello syndrome
- p.Ile93= Single submitter Costello syndrome
- p.Leu113= Single submitter Costello syndrome
- p.Leu188= Single submitter Costello syndrome
- p.Leu19= Single submitter Costello syndrome
- p.Leu23= Single submitter Costello syndrome
- p.Leu53= Single submitter Costello syndrome
- p.Leu56= Single submitter Costello syndrome
- p.Leu79= Single submitter Costello syndrome
- p.Lys101= Single submitter
- p.Lys117= Single submitter Costello syndrome
- p.Lys16= Single submitter Costello syndrome
- p.Lys185= Single submitter Costello syndrome
- p.Lys42= Single submitter Costello syndrome
- p.Pro110= Single submitter Costello syndrome
- p.Pro167= Single submitter
- p.Pro167Leu Single submitter
- p.Pro173= Single submitter Costello syndrome
- p.Pro173Arg Single submitter Costello syndrome ⚠
- p.Pro174= Single submitter Costello syndrome
- p.Pro179Ala Single submitter Costello syndrome
- p.Ser136= Single submitter Costello syndrome
- p.Ser145= Single submitter Costello syndrome
- p.Ser158Ala Single submitter Cardiovascular phenotype
- p.Ser177= Single submitter Costello syndrome
- p.Ser189= Single submitter Costello syndrome
- p.Ser65= Single submitter Costello syndrome
- p.Thr124= Single submitter Costello syndrome
- p.Thr144= Single submitter Cardiovascular phenotype
- p.Thr158= Single submitter Costello syndrome
- p.Thr162= Single submitter Costello syndrome
- p.Thr20= Single submitter Costello syndrome
- p.Thr35= Single submitter Costello syndrome
- p.Thr74= Single submitter Costello syndrome
- p.Tyr137= Single submitter Costello syndrome
- p.Tyr157= Single submitter Cardiovascular phenotype
- p.Tyr4= Single submitter Costello syndrome
- p.Tyr96= Single submitter Costello syndrome
- p.Val114= Single submitter Costello syndrome
- p.Val125= Single submitter Costello syndrome
- p.Val160= Single submitter Costello syndrome
- p.Val44= Single submitter Costello syndrome
- c.450+170T>G No assertion criteria HRAS-related disorder
- p.Arg153Cys No assertion criteria HRAS-related disorder
Uncertain significance 298
- p.Gly138Ser Expert panel RASopathy ⚠
- p.Ile93Val Expert panel RASopathy ⚠
- p.Lys170Ter Expert panel Costello syndrome
- c.111+6C>T Multiple submitters Cardiovascular phenotype
- c.290+3G>T Multiple submitters Costello syndrome
- c.291-3C>T Multiple submitters hereditary neoplastic syndrome
- c.451-3C>T Multiple submitters Costello syndrome
- p.Ala11Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ala121Val Multiple submitters Costello syndrome ⚠
- p.Ala130Val Multiple submitters Costello syndrome ⚠
- p.Ala134Val Multiple submitters Costello syndrome ⚠
- p.Ala59Ser Multiple submitters Noonan syndrome and Noonan-related syndrome ⚠
- p.Arg102Trp Multiple submitters Costello syndrome ⚠
- p.Arg123Cys Multiple submitters thyroid cancer, nonmedullary, 2 ⚠
- p.Arg123Pro Multiple submitters hereditary neoplastic syndrome ⚠
- p.Arg149Gln Multiple submitters Costello syndrome ⚠
- p.Arg149Trp Multiple submitters Costello syndrome ⚠
- p.Arg161Cys Multiple submitters large congenital melanocytic nevus ⚠
- p.Arg161His Multiple submitters Costello syndrome ⚠
- p.Arg164Pro Multiple submitters Costello syndrome ⚠
- p.Arg164Trp Multiple submitters Costello syndrome ⚠
- p.Arg169Gln Multiple submitters HRAS-related disorder ⚠
- p.Arg169Trp Multiple submitters Cardiovascular phenotype ⚠
- p.Arg68Gln Multiple submitters Costello syndrome ⚠
- p.Arg68Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Cys184Gly Multiple submitters Costello syndrome ⚠
- p.Cys80Ser Multiple submitters Costello syndrome ⚠
- p.Gln131Ter Multiple submitters Costello syndrome
- p.Glu126Gln Multiple submitters Costello syndrome ⚠
- p.Glu143Gln Multiple submitters Costello syndrome ⚠
- p.Glu162Lys Multiple submitters Costello syndrome ⚠
- p.Glu37fs Multiple submitters Costello syndrome
- p.Gly151Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Gly180Ser Multiple submitters Costello syndrome ⚠
- p.Gly60fs Multiple submitters Cardiovascular phenotype
- p.His166Arg Multiple submitters Costello syndrome ⚠
- p.His94Gln Multiple submitters Costello syndrome ⚠
- p.Ile142Leu Multiple submitters Costello syndrome ⚠
- p.Ile142Met Multiple submitters Cardiovascular phenotype ⚠
- p.Ile46Val Multiple submitters Costello syndrome ⚠
- p.Leu133His Multiple submitters Costello syndrome ⚠
- p.Leu168Pro Multiple submitters Costello syndrome ⚠
- p.Lys88Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Met111Leu Multiple submitters Costello syndrome ⚠
- p.Met182Val Multiple submitters Costello syndrome ⚠
- p.Met72Leu Multiple submitters Costello syndrome ⚠
- p.Phe90Ser Multiple submitters Costello syndrome ⚠
- p.Pro140Leu Multiple submitters Costello syndrome ⚠
- p.Pro173Leu Multiple submitters Costello syndrome ⚠
- p.Pro173Ser Multiple submitters Costello syndrome ⚠
- p.Pro174Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Pro179Leu Multiple submitters Costello syndrome ⚠
- p.Pro179Ser Multiple submitters Costello syndrome ⚠
- p.Ser106Trp Multiple submitters Cardiovascular phenotype ⚠
- p.Ser127Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Ser65Asn Multiple submitters Costello syndrome ⚠
- p.Thr124Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Thr158Met Multiple submitters Costello syndrome ⚠
- p.Thr74Ile Multiple submitters Costello syndrome ⚠
- p.Tyr137Ser Multiple submitters Costello syndrome ⚠
- p.Tyr141Cys Multiple submitters Costello syndrome ⚠
- p.Tyr4Cys Multiple submitters urinary bladder cancer ⚠
- p.Tyr4Ser Multiple submitters Costello syndrome ⚠
- p.Val103Met Multiple submitters Cardiovascular phenotype ⚠
- p.Val114Met Multiple submitters Costello syndrome ⚠
- p.Val152Met Multiple submitters Costello syndrome ⚠
- p.Val45Asp Multiple submitters Cardiovascular phenotype ⚠
- c.110_111+5del Single submitter Costello syndrome
- c.111+3G>A Single submitter Costello syndrome
- c.112-11T>A Single submitter Costello syndrome
- c.112-59_*6-51del Single submitter Costello syndrome
- c.290+1G>C Single submitter
- c.290+3G>A Single submitter Costello syndrome
- c.290+3G>C Single submitter Costello syndrome
- c.290+6C>A Single submitter Costello syndrome
- c.290+9C>G Single submitter Costello syndrome
- c.440_450+16del Single submitter Costello syndrome
- c.450+181G>A Single submitter epidermolytic nevus
- c.450+4A>C Single submitter Costello syndrome
- c.450+6del Single submitter Costello syndrome
- c.450+84C>A Single submitter
- c.-18G>A Single submitter
- c.-2C>A Single submitter
- c.-53-5G>A Single submitter
- c.-54+3G>A Single submitter Costello syndrome
- c.-5G>A Single submitter
- c.-9T>C Single submitter
- c.*5+11C>A Single submitter
- c.*5+4A>T Single submitter
- c.*6-7C>A Single submitter Monogenic short statue
- p.Ala121Asp Single submitter Costello syndrome ⚠
- p.Ala122Thr Single submitter Costello syndrome ⚠
- p.Ala122Val Single submitter Costello syndrome ⚠
- p.Ala134Thr Single submitter Costello syndrome ⚠
- p.Ala155Ser Single submitter Costello syndrome ⚠
- p.Ala155Thr Single submitter Costello syndrome ⚠
- p.Ala155Val Single submitter Costello syndrome ⚠
- p.Ala66Val Single submitter Costello syndrome ⚠
- p.Ala83Thr Single submitter Costello syndrome ⚠
- p.Arg102Gln Single submitter Costello syndrome ⚠
- p.Arg123Gly Single submitter Costello syndrome ⚠
- p.Arg123His Single submitter Costello syndrome ⚠
- p.Arg128Gln Single submitter Costello syndrome ⚠
- p.Arg128Leu Single submitter Costello syndrome ⚠
- p.Arg128Pro Single submitter Costello syndrome ⚠
- p.Arg128Trp Single submitter Costello syndrome ⚠
- p.Arg135Gln Single submitter Costello syndrome ⚠
- p.Arg135Gly Single submitter ⚠
- p.Arg135Ter Single submitter Costello syndrome
- p.Arg149fs Single submitter Costello syndrome
- p.Arg149Leu Single submitter Costello syndrome ⚠
- p.Arg161_Lys170del Single submitter Costello syndrome
- p.Arg161Gly Single submitter hereditary neoplastic syndrome ⚠
- p.Arg169Leu Single submitter Costello syndrome ⚠
- p.Arg41Pro Single submitter Costello syndrome ⚠
- p.Arg68_Asp69insGlyGlnGluGluTyrSerAlaMetArg Single submitter Costello syndrome
- p.Arg68Leu Single submitter Costello syndrome ⚠
- p.Arg73Cys Single submitter Costello syndrome ⚠
- p.Arg73His Single submitter Costello syndrome ⚠
- p.Asn116Ser Single submitter Costello syndrome ⚠
- p.Asn172Lys Single submitter Costello syndrome ⚠
- p.Asn172Ser Single submitter Costello syndrome ⚠
- p.Asn85Asp Single submitter Costello syndrome ⚠
- p.Asp105Asn Single submitter Costello syndrome ⚠
- p.Asp105His Single submitter Costello syndrome ⚠
- p.Asp107Asn Single submitter Costello syndrome ⚠
- p.Asp108Gly Single submitter Costello syndrome ⚠
- p.Asp132Gly Single submitter Costello syndrome ⚠
- p.Asp154Val Single submitter Costello syndrome ⚠
- p.Asp30Asn Single submitter Costello syndrome ⚠
- p.Asp33Asn Single submitter Costello syndrome ⚠
- p.Asp33Glu Single submitter Costello syndrome ⚠
- p.Asp33Tyr Single submitter Costello syndrome ⚠
- p.Asp47Asn Single submitter Costello syndrome ⚠
- p.Asp92Ala Single submitter Costello syndrome ⚠
- p.Asp92Asn Single submitter Costello syndrome ⚠
- p.Cys181Tyr Single submitter Costello syndrome ⚠
- p.Cys184Ser Single submitter Costello syndrome ⚠
- p.Cys184Tyr Single submitter Costello syndrome ⚠
- p.Cys51Arg Single submitter Costello syndrome ⚠
- p.Cys80fs Single submitter Costello syndrome
- p.Gln131Glu Single submitter Costello syndrome ⚠
- p.Gln150Ter Single submitter
- p.Gln165Lys Single submitter Costello syndrome ⚠
- p.Gln25Arg Single submitter Costello syndrome ⚠
- p.Gln43His Single submitter Costello syndrome ⚠
- p.Gln43Ter Single submitter Costello syndrome
- p.Gln61Leu Single submitter Costello syndrome ⚠
- p.Gln95His Single submitter Costello syndrome ⚠
- p.Gln99Glu Single submitter Costello syndrome ⚠
- p.Gln99His Single submitter Costello syndrome ⚠
- p.Gln99Ter Single submitter Costello syndrome
- p.Glu126Gly Single submitter Costello syndrome ⚠
- p.Glu126Ter Single submitter Costello syndrome
- p.Glu143Asp Single submitter Costello syndrome ⚠
- p.Glu143Lys Single submitter Costello syndrome ⚠
- p.Glu153Ter Single submitter Costello syndrome
- p.Glu162Asp Single submitter Costello syndrome ⚠
- p.Glu162Gln Single submitter Costello syndrome ⚠
- p.Glu31Gln Single submitter Costello syndrome ⚠
- p.Glu49Gln Single submitter Costello syndrome ⚠
- p.Glu49Gly Single submitter Costello syndrome ⚠
- p.Glu49Lys Single submitter Costello syndrome ⚠
- p.Glu63Asp Single submitter Costello syndrome ⚠
- p.Glu91Ter Single submitter Costello syndrome
- p.Glu98Lys Single submitter Costello syndrome ⚠
- p.Glu98Ter Single submitter Costello syndrome
- p.Gly10dup Single submitter
- p.Gly115Arg Single submitter Costello syndrome ⚠
- p.Gly138Arg Single submitter Costello syndrome ⚠
- p.Gly138Asp Single submitter Costello syndrome ⚠
- p.Gly138fs Single submitter Costello syndrome
- p.Gly138Val Single submitter Costello syndrome ⚠
- p.Gly151Arg Single submitter Costello syndrome ⚠
- p.Gly15Ala Single submitter Costello syndrome ⚠
- p.Gly15Val Single submitter Costello syndrome ⚠
- p.Gly178Arg Single submitter Costello syndrome ⚠
- p.Gly178Ser Single submitter Costello syndrome ⚠
- p.Gly180Arg Single submitter Costello syndrome ⚠
- p.Gly180Asp Single submitter Costello syndrome ⚠
- p.Gly180fs Single submitter Costello syndrome
- p.Gly60Arg Single submitter Costello syndrome ⚠
- p.Gly75Arg Single submitter Costello syndrome ⚠
- p.Gly77Asp Single submitter Costello syndrome ⚠
- p.His166Tyr Single submitter Costello syndrome ⚠
- p.His94Tyr Single submitter Costello syndrome ⚠
- p.Ile139Phe Single submitter Costello syndrome ⚠
- p.Ile142del Single submitter Costello syndrome
- p.Ile142Phe Single submitter Costello syndrome ⚠
- p.Ile142Thr Single submitter Costello syndrome ⚠
- p.Ile142Val Single submitter Costello syndrome ⚠
- p.Ile163Met Single submitter Costello syndrome ⚠
- p.Ile163Phe Single submitter Costello syndrome ⚠
- p.Ile36Thr Single submitter Costello syndrome ⚠
- p.Ile36Val Single submitter Costello syndrome ⚠
- p.Ile46Met Single submitter Costello syndrome ⚠
- p.Ile84Val Single submitter Costello syndrome ⚠
- p.Ile93Thr Single submitter parathyroid gland adenoma ⚠
- p.Leu120Val Single submitter Costello syndrome ⚠
- p.Leu159Phe Single submitter Costello syndrome ⚠
- p.Leu159Ser Single submitter Costello syndrome ⚠
- p.Leu171Val Single submitter Costello syndrome ⚠
- p.Leu19Met Single submitter Costello syndrome ⚠
- p.Leu53Ter Single submitter Costello syndrome
- p.Leu53Trp Single submitter Costello syndrome ⚠
- p.Leu56fs Single submitter
- p.Leu6_Val8del Single submitter Costello syndrome
- p.Leu79Gln Single submitter Costello syndrome ⚠
- p.Lys101Ile Single submitter Cardiovascular phenotype ⚠
- p.Lys167Arg Single submitter Costello syndrome ⚠
- p.Lys16Asn Single submitter ⚠
- p.Lys170Arg Single submitter Costello syndrome ⚠
- p.Lys185fs Single submitter Costello syndrome
- p.Lys88Glu Single submitter Costello syndrome ⚠
- p.Lys88Ter Single submitter
- p.Met111Thr Single submitter Costello syndrome ⚠
- p.Met111Val Single submitter Costello syndrome ⚠
- p.Met182Leu Single submitter Costello syndrome ⚠
- p.Met182Thr Single submitter Costello syndrome ⚠
- p.Met67Ile Single submitter Costello syndrome ⚠
- p.Met72Thr Single submitter Costello syndrome ⚠
- p.Phe82Cys Single submitter Costello syndrome ⚠
- p.Phe82Ser Single submitter Costello syndrome ⚠
- p.Pro110Leu Single submitter Costello syndrome ⚠
- p.Pro167fs Single submitter
- p.Pro174His Single submitter Noonan syndrome and Noonan-related syndrome ⚠
- p.Pro34Leu Single submitter Costello syndrome ⚠
- p.Ser106Leu Single submitter Costello syndrome ⚠
- p.Ser136Asn Single submitter Costello syndrome ⚠
- p.Ser136fs Single submitter Costello syndrome
- p.Ser136Gly Single submitter Costello syndrome ⚠
- p.Ser136Thr Single submitter Costello syndrome ⚠
- p.Ser159Asn Single submitter
- p.Ser177Asn Single submitter Costello syndrome ⚠
- p.Ser177del Single submitter Costello syndrome
- p.Ser177fs Single submitter Costello syndrome
- p.Ser177Thr Single submitter Costello syndrome ⚠
- p.Ser183Asn Single submitter Costello syndrome ⚠
- p.Ser189Ala Single submitter Costello syndrome ⚠
- p.Ser189del Single submitter Costello syndrome
- p.Ser189Phe Single submitter Costello syndrome ⚠
- p.Ser39Thr Single submitter Costello syndrome ⚠
- p.Ser65Arg Single submitter ⚠
- p.Thr148Ser Single submitter Costello syndrome ⚠
- p.Thr158Arg Single submitter Costello syndrome ⚠
- p.Thr158Lys Single submitter Costello syndrome ⚠
- p.Thr20Ile Single submitter Costello syndrome ⚠
- p.Thr2Ala Single submitter Costello syndrome ⚠
- p.Thr2Arg Single submitter Costello syndrome ⚠
- p.Thr2Met Single submitter Costello syndrome ⚠
- p.Thr35Ala Single submitter Costello syndrome ⚠
- p.Thr35fs Single submitter Costello syndrome
- p.Thr35Ile Single submitter ⚠
- p.Thr50Met Single submitter Costello syndrome ⚠
- p.Thr74Ala Single submitter Costello syndrome ⚠
- p.Thr74Ser Single submitter Costello syndrome ⚠
- p.Thr87Asn Single submitter Costello syndrome ⚠
- p.Thr87Ile Single submitter Costello syndrome ⚠
- p.Tyr141Ter Single submitter Costello syndrome
- p.Tyr157His Single submitter Costello syndrome ⚠
- p.Tyr4His Single submitter ⚠
- p.Tyr64Ter Single submitter Costello syndrome
- p.Tyr71His Single submitter Costello syndrome ⚠
- p.Val103Leu Single submitter Costello syndrome ⚠
- p.Val109Ala Single submitter ⚠
- p.Val109Leu Single submitter Costello syndrome ⚠
- p.Val109Met Single submitter Costello syndrome ⚠
- p.Val125Ala Single submitter Costello syndrome ⚠
- p.Val125fs Single submitter Costello syndrome
- p.Val125Gly Single submitter Costello syndrome ⚠
- p.Val14Gly Single submitter Costello syndrome ⚠
- p.Val160Ala Single submitter Costello syndrome ⚠
- p.Val160Gly Single submitter Costello syndrome ⚠
- p.Val160Leu Single submitter Cardiovascular phenotype ⚠
- p.Val187Ala Single submitter Costello syndrome ⚠
- p.Val187Met Single submitter Costello syndrome ⚠
- p.Val44Ala Single submitter Costello syndrome ⚠
- p.Val45Ile Single submitter Costello syndrome ⚠
- p.Val7Leu Single submitter Costello syndrome ⚠
- p.Val8Gly Single submitter Costello syndrome ⚠
- p.Val9del Single submitter Costello syndrome
- p.Val9fs Single submitter Costello syndrome
- c.111+18G>C No assertion criteria squamous cell lung carcinoma
- c.450+31A>G No assertion criteria squamous cell lung carcinoma
- c.450+35A>C No assertion criteria squamous cell lung carcinoma
- c.450+38dup No assertion criteria squamous cell lung carcinoma
- c.451-12_451del No assertion criteria
- p.Asp57Ala No assertion criteria prostate cancer, hereditary, 1 ⚠
- p.Glu49fs No assertion criteria prostate cancer, hereditary, 1
- p.Gly13Pro No assertion criteria
- p.Gly155_Ser156dup No assertion criteria Noonan syndrome
- p.Gly15Asp No assertion criteria Vascular Tumors Including Pyogenic Granuloma ⚠
- p.Met67Leu No assertion criteria prostate cancer, hereditary, 1 ⚠
- p.Phe78fs No assertion criteria Costello syndrome
- p.Pro34Ser No assertion criteria Vascular Tumors Including Pyogenic Granuloma ⚠
- p.Ser145Leu No assertion criteria HRAS-related disorder ⚠
- p.Thr50fs No assertion criteria prostate cancer, hereditary, 1
- p.Val81= No assertion criteria prostate cancer, hereditary, 1