Gene: PTPN11 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507548
rs397507548
PTPN11
0.010 GeneticVariation BEFREE We report on a 26-year-old female with features of Noonan syndrome-Multiple Lentigines and a heterozygous mutation: c.1517A > C-p.Gln506Pro in the PTPN11 gene. 22528600

2012
dbSNP: rs397509345
rs397509345
PTPN11
0.010 GeneticVariation BEFREE We report on a 26-year-old female with features of Noonan syndrome-Multiple Lentigines and a heterozygous mutation: c.1517A > C-p.Gln506Pro in the PTPN11 gene. 22528600

2012
dbSNP: rs201247699
rs201247699
PTPN11
0.010 GeneticVariation BEFREE The mother and the brother present with some NS manifestations, such as short stature, delayed puberty, keratosis pilaris, café-au-lait spots, refraction error (mother), and undescended testis (brother), but no NS facial features, supporting the notion that the PTPN11 p.Gly409Ala mutation leads to a relatively mild phenotype. 21548061

2011
dbSNP: rs121918464
rs121918464
PTPN11
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007
dbSNP: rs1057517917
rs1057517917
PTPN11
0.020 GeneticVariation BEFREE Here, we characterized functionally all possible amino acid substitutions arising from single-base changes affecting codons 62 and 63 to explore the molecular mechanisms lying behind the largely invariant occurrence of the Y62D and Y63C substitutions recurring in Noonan syndrome. 22711529

2012
dbSNP: rs1057517917
rs1057517917
PTPN11
0.020 GeneticVariation BEFREE A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population. 16498234

2006
dbSNP: rs376607329
rs376607329
PTPN11
A 0.700 CausalMutation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581

2018
dbSNP: rs376607329
rs376607329
PTPN11
A 0.700 CausalMutation CLINVAR Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. 28074573

2017
dbSNP: rs397516801
rs397516801
PTPN11
G 0.700 CausalMutation CLINVAR Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders. 29084544

2017
dbSNP: rs727503380
rs727503380
PTPN11
T 0.700 GeneticVariation CLINVAR Progression in patients with low- and intermediate-1-risk del(5q) myelodysplastic syndromes is predicted by a limited subset of mutations. 27884971

2017
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: rs397507530
rs397507530
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: rs727503380
rs727503380
PTPN11
T 0.700 GeneticVariation CLINVAR Parallel targeted next generation sequencing of childhood and adult acute myeloid leukemia patients reveals uniform genomic profile of the disease. 27460089

2016
dbSNP: rs267606990
rs267606990
PTPN11 ; RPL6
T 0.700 CausalMutation CLINVAR Clinical and Molecular Findings of Tunisian Patients with RASopathies. 25337068

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

2014
dbSNP: rs397507523
rs397507523
PTPN11
G 0.700 CausalMutation CLINVAR Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 24451042

2014
dbSNP: rs397507540
rs397507540
PTPN11
T 0.700 CausalMutation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665

2014
dbSNP: rs727503381
rs727503381
PTPN11
T 0.700 CausalMutation CLINVAR A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions. 24225993

2014
dbSNP: rs121918458
rs121918458
PTPN11
G 0.700 CausalMutation CLINVAR Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. 23832011

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 Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. 23832011

2013
dbSNP: rs397507511
rs397507511
PTPN11
C 0.700 CausalMutation CLINVAR Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. 23321623

2013
dbSNP: rs397507511
rs397507511
PTPN11
C 0.700 CausalMutation CLINVAR IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene. 23624134

2013
dbSNP: rs397507530
rs397507530
PTPN11
G 0.700 GeneticVariation CLINVAR The integrated landscape of driver genomic alterations in glioblastoma. 23917401

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

2013