Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517147
rs397517147
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625

2010
dbSNP: rs397517147
rs397517147
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR Role of the histone domain in the autoinhibition and activation of the Ras activator Son of Sevenless. 20133692

2010
dbSNP: rs397517147
rs397517147
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799

2008
dbSNP: rs397517147
rs397517147
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR An integrated genomic analysis of human glioblastoma multiforme. 18772396

2008
dbSNP: rs397517147
rs397517147
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR The SOS1 E433K mutation, identified in a patient diagnosed with CFC, has previously been reported in patients with NS. 18456719

2008
dbSNP: rs397517147
rs397517147
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. 17143282

2007