Gene: PTPN11 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918461
rs121918461
PTPN11
C 0.720 GeneticVariation CLINVAR Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997

2004
dbSNP: rs121918461
rs121918461
PTPN11
C 0.720 GeneticVariation CLINVAR Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11. 18562489

2008
dbSNP: rs121918461
rs121918461
PTPN11
C 0.720 GeneticVariation CLINVAR The natural history of Noonan syndrome: a long-term follow-up study. 16990350

2007
dbSNP: rs121918461
rs121918461
PTPN11
C 0.720 GeneticVariation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469

2002
dbSNP: rs121918461
rs121918461
PTPN11
C 0.720 GeneticVariation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005
dbSNP: rs121918461
rs121918461
PTPN11
C 0.720 GeneticVariation CLINVAR PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia. 16533526

2006
dbSNP: rs121918461
rs121918461
PTPN11
C 0.720 GeneticVariation CLINVAR Somatic PTPN11 mutations in childhood acute myeloid leukaemia. 15842656

2005
dbSNP: rs121918461
rs121918461
PTPN11
C 0.720 GeneticVariation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470

2006
dbSNP: rs121918461
rs121918461
PTPN11
C 0.720 GeneticVariation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
dbSNP: rs121918461
rs121918461
PTPN11
C 0.720 GeneticVariation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs121918461
rs121918461
PTPN11
C 0.720 GeneticVariation CLINVAR We report on a fetus with Noonan syndrome and a missense mutation c.182A > C (p.Asp61Ala) of PTPN11 who responded poorly to antenatal pleurodesis by OK-432. 19927903

2009
dbSNP: rs121918453
rs121918453
PTPN11
C 0.710 GeneticVariation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs121918453
rs121918453
PTPN11
C 0.710 GeneticVariation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005
dbSNP: rs121918453
rs121918453
PTPN11
A 0.710 GeneticVariation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs121918453
rs121918453
PTPN11
A 0.710 GeneticVariation CLINVAR Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997

2004
dbSNP: rs121918453
rs121918453
PTPN11
A 0.710 GeneticVariation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs121918453
rs121918453
PTPN11
A 0.710 GeneticVariation CLINVAR Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. 19047918

2009
dbSNP: rs121918453
rs121918453
PTPN11
A 0.710 GeneticVariation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005
dbSNP: rs121918453
rs121918453
PTPN11
C 0.710 GeneticVariation CLINVAR PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings. 18759865

2009
dbSNP: rs1398859175
rs1398859175
PTPN11
G 0.700 GeneticVariation CLINVAR

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: rs397507504
rs397507504
PTPN11
G 0.700 GeneticVariation CLINVAR ALK2 mutation in a patient with Down's syndrome and a congenital heart defect. 21248739

2011
dbSNP: rs397507504
rs397507504
PTPN11
G 0.700 GeneticVariation CLINVAR Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations. 26817465

2016
dbSNP: rs397507512
rs397507512
PTPN11
C 0.700 GeneticVariation CLINVAR The tyrosine phosphatase Shp2 (PTPN11) in cancer. 18286234

2008
dbSNP: rs397507512
rs397507512
PTPN11
C 0.700 GeneticVariation CLINVAR Somatic PTPN11 mutations in childhood acute myeloid leukaemia. 15842656

2005