Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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GA | 0.700 | CausalMutation | CLINVAR | ||||||||||
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G | 0.700 | CausalMutation | CLINVAR | Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. | 19156172 | 2009 |
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|
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G | 0.700 | CausalMutation | CLINVAR | Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options. | 17981815 | 2008 |
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G | 0.700 | CausalMutation | CLINVAR | Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. | 18042262 | 2008 |
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G | 0.700 | CausalMutation | CLINVAR | Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. | 17366577 | 2007 |
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G | 0.700 | CausalMutation | CLINVAR | Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. | 17567882 | 2007 |
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G | 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 |
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G | 0.700 | CausalMutation | CLINVAR | Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. | 16439621 | 2006 |
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. | 30661772 | 2019 |
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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C | 0.700 | CausalMutation | CLINVAR | ||||||||||
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C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. | 26650189 | 2016 |
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A | 0.700 | CausalMutation | CLINVAR | Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. | 25803691 | 2015 |
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A | 0.700 | CausalMutation | CLINVAR | Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. | 23167872 | 2013 |
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A | 0.700 | CausalMutation | CLINVAR | A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. | 22012259 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR |