Gene: PTPN11 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507503
rs397507503
PTPN11
T 0.700 GeneticVariation 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: rs397507506
rs397507506
PTPN11
A 0.700 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: rs397507507
rs397507507
PTPN11
A 0.700 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: rs397507525
rs397507525
PTPN11
T 0.700 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: rs397516802
rs397516802
PTPN11
CT 0.700 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: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients. 18331608

2008
dbSNP: rs397507547
rs397507547
PTPN11
G 0.700 CausalMutation CLINVAR Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients. 18331608

2008
dbSNP: rs397507514
rs397507514
PTPN11
T 0.710 CausalMutation CLINVAR Aortic root dilatation is a rare complication of Noonan syndrome. 16830086

2007
dbSNP: rs397507501
rs397507501
PTPN11
G 0.710 CausalMutation CLINVAR Atrioventricular canal defect in patients with RASopathies. 22781091

2013
dbSNP: rs397507540
rs397507540
PTPN11
T 0.700 CausalMutation CLINVAR Atrioventricular canal defect in patients with RASopathies. 22781091

2013
dbSNP: rs397507517
rs397507517
PTPN11
C 0.700 CausalMutation CLINVAR Bone resorption in syndromes of the Ras/MAPK pathway. 21204800

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

2011
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260

2011
dbSNP: rs397507505
rs397507505
PTPN11
C 0.710 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260

2011
dbSNP: rs397507509
rs397507509
PTPN11
C 0.710 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260

2011
dbSNP: rs397507520
rs397507520
PTPN11
T 0.710 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260

2011
dbSNP: rs397507529
rs397507529
PTPN11
G 0.700 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260

2011
dbSNP: rs397507540
rs397507540
PTPN11
T 0.700 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260

2011
dbSNP: rs397516809
rs397516809
PTPN11
T 0.700 GeneticVariation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260

2011
dbSNP: rs397516803
rs397516803
PTPN11
A 0.700 GeneticVariation CLINVAR Case report: Noonan syndrome with multiple giant cell lesions and review of the literature. 22848035

2012
dbSNP: rs121918462
rs121918462
PTPN11
T 0.740 CausalMutation CLINVAR Characterization of acute myeloid leukemia with PTPN11 mutation: the mutation is closely associated with NPM1 mutation but inversely related to FLT3/ITD. 17972951

2008
dbSNP: rs376607329
rs376607329
PTPN11
A 0.700 CausalMutation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581

2018
dbSNP: rs727503380
rs727503380
PTPN11
T 0.700 GeneticVariation CLINVAR Clinical and biological implications of driver mutations in myelodysplastic syndromes. 24030381

2013
dbSNP: rs397507520
rs397507520
PTPN11
T 0.710 CausalMutation CLINVAR Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. 20954246

2010
dbSNP: rs121918456
rs121918456
PTPN11
G 0.710 CausalMutation CLINVAR Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. 15121796

2004