Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918457
rs121918457
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		T 0.700 CausalMutation CLINVAR Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor. 28681392

2017
dbSNP: rs121918457
rs121918457
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		T 0.700 CausalMutation CLINVAR Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines. 27238887

2016
dbSNP: rs121918457
rs121918457
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		T 0.700 CausalMutation CLINVAR Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination. 27659786

2016
dbSNP: rs121918457
rs121918457
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		T 0.700 CausalMutation CLINVAR LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 24767283

2014
dbSNP: rs121918457
rs121918457
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		T 0.700 CausalMutation CLINVAR Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348

2002