Gene: PTPN11 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918466
rs121918466
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs397507520
rs397507520
PTPN11
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918459
rs121918459
PTPN11
G 0.700 CausalMutation CLINVAR A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population. 16498234

2006
dbSNP: rs397507531
rs397507531
PTPN11
C 0.700 CausalMutation CLINVAR A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. 19120036

2009
dbSNP: rs397516810
rs397516810
PTPN11
G 0.700 CausalMutation CLINVAR A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. 19120036

2009
dbSNP: rs727503380
rs727503380
PTPN11
T 0.700 GeneticVariation CLINVAR Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. 15604238

2004
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: rs397507510
rs397507510
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: rs121918468
rs121918468
PTPN11
A 0.700 CausalMutation CLINVAR Atrioventricular canal defect in patients with RASopathies. 22781091

2013
dbSNP: rs397507549
rs397507549
PTPN11
G 0.700 CausalMutation CLINVAR Atrioventricular canal defect in patients with RASopathies. 22781091

2013
dbSNP: rs121918470
rs121918470
PTPN11
C 0.700 CausalMutation CLINVAR Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies. 22488759

2012
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR Behavioral profile in RASopathies. 24458522

2014
dbSNP: rs397507510
rs397507510
PTPN11
A 0.700 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: rs727503380
rs727503380
PTPN11
T 0.700 GeneticVariation CLINVAR Clinical and biological implications of driver mutations in myelodysplastic syndromes. 24030381

2013
dbSNP: rs397507506
rs397507506
PTPN11
A 0.700 CausalMutation CLINVAR Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. 20954246

2010
dbSNP: rs397507510
rs397507510
PTPN11
A 0.700 CausalMutation CLINVAR Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. 20954246

2010
dbSNP: rs397507549
rs397507549
PTPN11
G 0.700 CausalMutation CLINVAR Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. 20954246

2010
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Clinical and molecular characterization of 40 patients with Noonan syndrome. 18678287

2009
dbSNP: rs397507512
rs397507512
PTPN11
C 0.700 GeneticVariation CLINVAR Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia. 27683039

2016
dbSNP: rs121918459
rs121918459
PTPN11
G 0.700 CausalMutation CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218

2003
dbSNP: rs397507510
rs397507510
PTPN11
A 0.700 CausalMutation CLINVAR Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. 19047918

2009
dbSNP: rs397507518
rs397507518
PTPN11
A 0.700 GeneticVariation CLINVAR Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 24451042

2014
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 15987685

2005
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006