| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation. | 25706034 | 2015 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Impact of feedback phosphorylation and Raf heterodimerization on normal and mutant B-Raf signaling. | 19933846 | 2010 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. | 20052757 | 2010 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. | 19953625 | 2010 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |