Gene: PTPN11 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918453
rs121918453
PTPN11
C 0.700 GeneticVariation CLINVAR PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings. 18759865

2009
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: 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 High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome. 19737548

2009
dbSNP: rs397507512
rs397507512
PTPN11
C 0.700 GeneticVariation CLINVAR PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? 22681964

2011
dbSNP: rs397507512
rs397507512
PTPN11
C 0.700 GeneticVariation CLINVAR Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. 21680795

2011
dbSNP: rs397507512
rs397507512
PTPN11
C 0.700 GeneticVariation CLINVAR Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. 12634870

2003
dbSNP: rs397507512
rs397507512
PTPN11
C 0.700 GeneticVariation CLINVAR Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia. 27683039

2016
dbSNP: rs397507512
rs397507512
PTPN11
C 0.700 GeneticVariation CLINVAR PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings. 18759865

2009
dbSNP: rs397507512
rs397507512
PTPN11
C 0.700 GeneticVariation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005
dbSNP: rs397507512
rs397507512
PTPN11
C 0.700 GeneticVariation CLINVAR Hyperactivation of the RAS signaling pathway in myelodysplastic syndrome with AML1/RUNX1 point mutations. 16467864

2006
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: 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: rs727503380
rs727503380
PTPN11
T 0.700 GeneticVariation CLINVAR PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. 20578946

2010
dbSNP: rs727503380
rs727503380
PTPN11
T 0.700 GeneticVariation CLINVAR Clinical and biological implications of driver mutations in myelodysplastic syndromes. 24030381

2013
dbSNP: rs727503380
rs727503380
PTPN11
T 0.700 GeneticVariation CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116

2009
dbSNP: rs727503380
rs727503380
PTPN11
T 0.700 GeneticVariation CLINVAR The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. 18470943

2008
dbSNP: rs727503380
rs727503380
PTPN11
T 0.700 GeneticVariation CLINVAR Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. 20186801

2010
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
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: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. 15248152

2004
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome. 15956085

2005
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