Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852813
rs137852813
G 0.700 CausalMutation CLINVAR SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B. 26708403

2016

dbSNP: rs397517172
rs397517172
C 0.700 CausalMutation CLINVAR SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B. 26708403

2016

dbSNP: rs397517174
rs397517174
C 0.700 GeneticVariation CLINVAR SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B. 26708403

2016

dbSNP: rs137852813
rs137852813
G 0.700 CausalMutation CLINVAR Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. 26249544

2015

dbSNP: rs397517172
rs397517172
C 0.700 CausalMutation CLINVAR Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. 26249544

2015

dbSNP: rs397517174
rs397517174
C 0.700 GeneticVariation CLINVAR Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. 26249544

2015

dbSNP: rs137852813
rs137852813
G 0.700 CausalMutation CLINVAR Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. 25180280

2014

dbSNP: rs137852813
rs137852813
G 0.700 CausalMutation CLINVAR Unilateral giant cell lesion of the jaw in Noonan syndrome. 25073238

2014

dbSNP: rs397517172
rs397517172
C 0.700 CausalMutation CLINVAR Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. 25180280

2014

dbSNP: rs397517172
rs397517172
C 0.700 CausalMutation CLINVAR Unilateral giant cell lesion of the jaw in Noonan syndrome. 25073238

2014

dbSNP: rs397517174
rs397517174
C 0.700 GeneticVariation CLINVAR Unilateral giant cell lesion of the jaw in Noonan syndrome. 25073238

2014

dbSNP: rs397517174
rs397517174
C 0.700 GeneticVariation CLINVAR Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. 25180280

2014

dbSNP: rs137852813
rs137852813
G 0.700 CausalMutation CLINVAR Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAPKinase pathway? 22551697

2012

dbSNP: rs137852813
rs137852813
G 0.700 CausalMutation CLINVAR Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome. 23165751

2012

dbSNP: rs137852813
rs137852813
G 0.700 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720

2012

dbSNP: rs397517172
rs397517172
C 0.700 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720

2012

dbSNP: rs397517172
rs397517172
C 0.700 CausalMutation CLINVAR Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome. 23165751

2012

dbSNP: rs397517172
rs397517172
C 0.700 CausalMutation CLINVAR Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAPKinase pathway? 22551697

2012

dbSNP: rs397517174
rs397517174
C 0.700 GeneticVariation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720

2012

dbSNP: rs397517174
rs397517174
C 0.700 GeneticVariation CLINVAR Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome. 23165751

2012

dbSNP: rs397517174
rs397517174
C 0.700 GeneticVariation CLINVAR Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAPKinase pathway? 22551697

2012

dbSNP: rs137852813
rs137852813
G 0.700 CausalMutation CLINVAR Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 21784453

2011

dbSNP: rs137852813
rs137852813
G 0.700 CausalMutation CLINVAR Noonan syndrome and clinically related disorders. 21396583

2011

dbSNP: rs137852813
rs137852813
G 0.700 CausalMutation CLINVAR SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 21387466

2011

dbSNP: rs397517172
rs397517172
C 0.700 CausalMutation CLINVAR Noonan syndrome and clinically related disorders. 21396583

2011