| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. | 29493581 | 2018 |
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|
A | 0.700 | CausalMutation | CLINVAR | Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders. | 29084544 | 2017 |
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|
A | 0.700 | CausalMutation | CLINVAR | We present two infants with Noonan syndrome and an identical RAF1 mutation, p.Ser257Leu (c.770C>T), who developed severe pulmonary arterial hypertension (PAH) that proved to be fatal. | 25706034 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. | 23877478 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. | 24775816 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. | 22389993 | 2012 |
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|
A | 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 |
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|
A | 0.700 | CausalMutation | CLINVAR | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Downgrading of arts-centered education in state schools. | 1760348 | 1992 |