Gene: PTPN11 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene. 23624134

2013
dbSNP: rs397507540
rs397507540
PTPN11
T 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: 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: 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: rs397507507
rs397507507
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: rs397507525
rs397507525
PTPN11
T 0.700 CausalMutation CLINVAR Health and quality of life in adults with Noonan syndrome. 22494877

2012