Gene: PTPN11 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918470
rs121918470
PTPN11
C 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs121918470
rs121918470
PTPN11
C 0.700 CausalMutation CLINVAR Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1. 16638574

2006
dbSNP: rs121918470
rs121918470
PTPN11
C 0.700 CausalMutation CLINVAR Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. 15948193

2005
dbSNP: rs121918470
rs121918470
PTPN11
C 0.700 CausalMutation CLINVAR PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. 15520399

2004
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918457
rs121918457
PTPN11
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918458
rs121918458
PTPN11
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918459
rs121918459
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918462
rs121918462
PTPN11
T 0.700 CausalMutation CLINVAR

dbSNP: rs397507520
rs397507520
PTPN11
C 0.700 CausalMutation CLINVAR

dbSNP: rs397507545
rs397507545
PTPN11
C 0.700 CausalMutation CLINVAR