Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173

2016
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Audiological findings in Noonan syndrome. 27619028

2016
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Chronic pain in Noonan Syndrome: A previously unreported but common symptom. 26297936

2015
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. 26249544

2015
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. 21500339

2011
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. 21533187

2011
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Noonan syndrome and clinically related disorders. 21396583

2011
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. 19467855

2009
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Noonan syndrome. 17222357

2007
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636

2007
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR LEOPARD syndrome: clinical diagnosis in the first year of life. 16523510

2006
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218

2003
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). 9222968

1997
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1-24.3. 8530013

1995
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR A clinical study of Noonan syndrome. 1543375

1992
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Noonan syndrome: the changing phenotype. 4025385

1985
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892

1976
dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970

1968