Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516792
rs397516792
MAP2K1
T 0.700 CausalMutation CLINVAR In vivo severity ranking of Ras pathway mutations associated with developmental disorders. 28049852

2017
dbSNP: rs397516792
rs397516792
MAP2K1
T 0.700 CausalMutation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665

2014
dbSNP: rs397516792
rs397516792
MAP2K1
T 0.700 CausalMutation CLINVAR Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma. 23569304

2013
dbSNP: rs397516792
rs397516792
MAP2K1
T 0.700 GeneticVariation CLINVAR MEK1 mutations confer resistance to MEK and B-RAF inhibition. 19915144

2009
dbSNP: rs397516792
rs397516792
MAP2K1
T 0.700 GeneticVariation CLINVAR Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. 17551924

2007
dbSNP: rs397516792
rs397516792
MAP2K1
T 0.700 CausalMutation CLINVAR Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 17366577

2007
dbSNP: rs397516792
rs397516792
MAP2K1
T 0.700 GeneticVariation CLINVAR Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 17366577

2007
dbSNP: rs397516792
rs397516792
MAP2K1
T 0.700 CausalMutation CLINVAR Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. 17551924

2007