Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933386
rs28933386
PTPN11
0.720 GeneticVariation BEFREE One of the most common protein tyrosine phosphatase-2 (SHP2) mutations in Noonan syndrome is the N308D mutation, and it increases the activity of the protein. 30304563

2019
dbSNP: rs104894365
rs104894365
KRAS
T 0.720 CausalMutation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581

2018
dbSNP: rs121918461
rs121918461
PTPN11
0.720 GeneticVariation BEFREE Previous studies reported that the knock-in mouse models of the mutant D61G of SHP2 exhibited the major features of NS, which demonstrated that the mutation D61G of SHP2 could cause NS. 29125030

2018
dbSNP: rs397507539
rs397507539
PTPN11
0.720 GeneticVariation BEFREE The assay identified p.A72G, p.I282V, and p.P491S variants of the PTPN11 gene and a p.I437T variant of the SOS1 gene in 4 cases with Noonan syndrome. 30541462

2018
dbSNP: rs397517150
rs397517150
SOS1
0.720 GeneticVariation BEFREE A germline SOS1 mutation c.1310T>C (p. Ile437Thr) confirmed NS diagnosis. 30039904

2018
dbSNP: rs397517150
rs397517150
SOS1
0.720 GeneticVariation BEFREE The assay identified p.A72G, p.I282V, and p.P491S variants of the PTPN11 gene and a p.I437T variant of the SOS1 gene in 4 cases with Noonan syndrome. 30541462

2018
dbSNP: rs28933386
rs28933386
PTPN11
0.720 GeneticVariation BEFREE Redox Regulation of a Gain-of-Function Mutation (N308D) in SHP2 Noonan Syndrome. 29214238

2017
dbSNP: rs104894365
rs104894365
KRAS
0.720 GeneticVariation BEFREE K-Ras(V14I) -induced Noonan syndrome predisposes to tumour development in mice. 27174785

2016
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. 24718990

2014
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 24628801

2014
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206

2014
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR In addition, viral overexpression of an NS-associated allele PTPN11(D61G) in adult mouse hippocampus results in increased baseline excitatory synaptic function and deficits in LTP and spatial learning, which can be reversed by a mitogen-activated protein kinase kinase (MEK) inhibitor. 25383899

2014
dbSNP: rs397507539
rs397507539
PTPN11
0.720 GeneticVariation BEFREE Here, we report on a 5-year-old male with two de novo PTPN11 mutations in cis, c.1471C>T (p.Pro491Ser), and c.1492C>T (p.Arg498Trp), which are associated with NS and NSML, respectively. 24891296

2014
dbSNP: rs121918459
rs121918459
PTPN11
G 0.720 CausalMutation CLINVAR MAPK activation in mature cataract associated with Noonan syndrome. 24219368

2013
dbSNP: rs121918459
rs121918459
PTPN11
G 0.720 CausalMutation CLINVAR Clinical and molecular analysis of RASopathies in a group of Turkish patients. 22420426

2013
dbSNP: rs121918459
rs121918459
PTPN11
G 0.720 CausalMutation CLINVAR Here, we characterized functionally all possible amino acid substitutions arising from single-base changes affecting codons 62 and 63 to explore the molecular mechanisms lying behind the largely invariant occurrence of the Y62D and Y63C substitutions recurring in Noonan syndrome. 22711529

2012
dbSNP: rs121918459
rs121918459
PTPN11
0.720 GeneticVariation BEFREE Here, we characterized functionally all possible amino acid substitutions arising from single-base changes affecting codons 62 and 63 to explore the molecular mechanisms lying behind the largely invariant occurrence of the Y62D and Y63C substitutions recurring in Noonan syndrome. 22711529

2012
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR We report here that early postnatal growth delay is associated with low levels of insulin-like growth factor 1 (IGF-1) in a mouse model of NS expressing the D61G mutant of SHP2. 22371576

2012
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. 22465605

2012
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment. 21590266

2012
dbSNP: rs397507539
rs397507539
PTPN11
A 0.720 CausalMutation CLINVAR Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. 22465605

2012
dbSNP: rs104894365
rs104894365
KRAS
T 0.720 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011
dbSNP: rs121918459
rs121918459
PTPN11
G 0.720 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260

2011
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR Structural mechanism associated with domain opening in gain-of-function mutations in SHP2 phosphatase. 21365683

2011
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Lethal presentation of neurofibromatosis and Noonan syndrome. 21567923

2011