Gene: PTPN11 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. 26607044

2016
dbSNP: rs397507510
rs397507510
PTPN11
A 0.700 CausalMutation CLINVAR The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. 27069254

2016
dbSNP: rs397507510
rs397507510
PTPN11
A 0.700 CausalMutation CLINVAR Genomic Classification and Prognosis in Acute Myeloid Leukemia. 27276561

2016
dbSNP: rs397507512
rs397507512
PTPN11
C 0.700 GeneticVariation CLINVAR Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia. 27683039

2016
dbSNP: rs397507506
rs397507506
PTPN11
A 0.700 CausalMutation CLINVAR Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing. 25914815

2015
dbSNP: rs397507510
rs397507510
PTPN11
A 0.700 CausalMutation CLINVAR Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia. 25395418

2015
dbSNP: rs397507549
rs397507549
PTPN11
G 0.700 CausalMutation CLINVAR Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog. 25708222

2015
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR Behavioral profile in RASopathies. 24458522

2014
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206

2014
dbSNP: rs397507510
rs397507510
PTPN11
C 0.700 CausalMutation CLINVAR Ras pathway mutations are prevalent in relapsed childhood acute lymphoblastic leukemia and confer sensitivity to MEK inhibition. 25253770

2014
dbSNP: rs397507510
rs397507510
PTPN11
C 0.700 CausalMutation CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206

2014
dbSNP: rs397507510
rs397507510
PTPN11
A 0.700 CausalMutation CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206

2014
dbSNP: rs397507512
rs397507512
PTPN11
C 0.700 GeneticVariation CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206

2014
dbSNP: rs397507512
rs397507512
PTPN11
C 0.700 GeneticVariation CLINVAR The spectrum of somatic mutations in high-risk acute myeloid leukaemia with -7/del(7q). 24931631

2014
dbSNP: rs397507518
rs397507518
PTPN11
A 0.700 GeneticVariation CLINVAR Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 24451042

2014
dbSNP: rs397507518
rs397507518
PTPN11
A 0.700 GeneticVariation CLINVAR Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome. 24150203

2014
dbSNP: rs397516810
rs397516810
PTPN11
G 0.700 CausalMutation CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206

2014
dbSNP: rs397516810
rs397516810
PTPN11
G 0.700 CausalMutation CLINVAR Pectus excavatum and carinatum. 24821303

2014
dbSNP: rs121918468
rs121918468
PTPN11
A 0.700 CausalMutation CLINVAR Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. 23321623

2013
dbSNP: rs121918468
rs121918468
PTPN11
A 0.700 CausalMutation CLINVAR Atrioventricular canal defect in patients with RASopathies. 22781091

2013
dbSNP: rs397507506
rs397507506
PTPN11
A 0.700 CausalMutation CLINVAR Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. 23321623

2013
dbSNP: rs397507510
rs397507510
PTPN11
A 0.700 CausalMutation CLINVAR Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome. 23756559

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

2013
dbSNP: rs727503380
rs727503380
PTPN11
T 0.700 GeneticVariation CLINVAR Clinical and biological implications of driver mutations in myelodysplastic syndromes. 24030381

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

2012