| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | CausalMutation | CLINVAR | K-RasV14I recapitulates Noonan syndrome in mice. | 25359213 | 2014 |
|||
|
C | 0.800 | CausalMutation | CLINVAR | Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. | 24803665 | 2014 |
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|
T | 0.800 | CausalMutation | CLINVAR | Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients. | 23885229 | 2013 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | KRAS mutation detection in paired frozen and Formalin-Fixed Paraffin-Embedded (FFPE) colorectal cancer tissues. | 21686179 | 2011 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. | 20949621 | 2011 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. | 21784453 | 2011 |
|||
|
C | 0.800 | CausalMutation | CLINVAR | Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. | 20949621 | 2011 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. | 17056636 | 2007 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction. | 16987887 | 2006 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | Germline KRAS mutations cause Noonan syndrome. | 16474405 | 2006 |
|||
|
C | 0.800 | CausalMutation | CLINVAR | Germline KRAS mutations cause Noonan syndrome. | 16474405 | 2006 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR |