Gene: PTPN11 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11. 19054014

2009
dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade. 19133693

2009
dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. 18849586

2009
dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan. 19864201

2009
dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR [LEOPARD syndrome]. 19174044

2009
dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. 18372317

2008
dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR We report on a family with LEOPARD syndrome which was molecularly proven (p.Thr468Met in PTPN11) in a father and his adult son. 17935252

2007
dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid substitutions engender loss of SHP-2 catalytic activity, identifying a previously unrecognized behavior for this class of missense PTPN11 mutations. 16358218

2006
dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1. 16638574

2006
dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. 16377799

2006
dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. 15520399

2004
dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348

2002
dbSNP: rs397507549
rs397507549
PTPN11
G 0.740 CausalMutation CLINVAR The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling. 22058153

2012
dbSNP: rs397507549
rs397507549
PTPN11
G 0.740 CausalMutation CLINVAR However, expression of cardiac-specific transcriptional factors (Gata4, Tbx5, and Nkx2.5) did not differ significantly between the LS-type SHP2-Q510E mutants and the other mutants and controls. 21803945

2011
dbSNP: rs397507549
rs397507549
PTPN11
G 0.740 CausalMutation CLINVAR Comparing our patient to the literature suggests that specific mutations at codon 510 in PTPN11 (Gln510Glu, Gln510His, but not Gln510Pro) might be a predictor of fatal cardiac events in LS. 21910226

2011
dbSNP: rs397507549
rs397507549
PTPN11
G 0.740 CausalMutation CLINVAR LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. 21677813

2011
dbSNP: rs397507549
rs397507549
PTPN11
G 0.740 CausalMutation CLINVAR IMAGE CARDIO MED. A patient with LEOPARD syndrome and PTPN11 mutation. 19273734

2009
dbSNP: rs397507549
rs397507549
PTPN11
G 0.740 CausalMutation CLINVAR PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link? 19582499

2009
dbSNP: rs397507549
rs397507549
PTPN11
G 0.740 CausalMutation CLINVAR Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome. 18241070

2008
dbSNP: rs397507549
rs397507549
PTPN11
G 0.740 CausalMutation CLINVAR PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype". 16733669

2006
dbSNP: rs397507549
rs397507549
PTPN11
G 0.740 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs397507549
rs397507549
PTPN11
G 0.740 CausalMutation CLINVAR A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. 15889278

2005
dbSNP: rs121918470
rs121918470
PTPN11
C 0.730 CausalMutation CLINVAR PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. 20578946

2010
dbSNP: rs121918470
rs121918470
PTPN11
C 0.730 CausalMutation CLINVAR Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1. 16638574

2006
dbSNP: rs121918470
rs121918470
PTPN11
C 0.730 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006