Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852814
rs137852814
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.700 CausalMutation CLINVAR Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K). 24522193

2014
dbSNP: rs137852814
rs137852814
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.700 CausalMutation CLINVAR NMR-based functional profiling of RASopathies and oncogenic RAS mutations. 23487764

2013
dbSNP: rs137852814
rs137852814
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.700 CausalMutation CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625

2010
dbSNP: rs137852814
rs137852814
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.700 CausalMutation CLINVAR Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? 21340158

2010
dbSNP: rs137852814
rs137852814
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.700 CausalMutation CLINVAR Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. 18854871

2009
dbSNP: rs137852814
rs137852814
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.700 CausalMutation CLINVAR Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. 17143282

2007
dbSNP: rs137852814
rs137852814
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.700 CausalMutation CLINVAR SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 17586837

2007
dbSNP: rs137852814
rs137852814
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.700 CausalMutation CLINVAR Germline gain-of-function mutations in SOS1 cause Noonan syndrome. 17143285

2007