Source: ALL
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 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 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