| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.810 | GeneticVariation | UNIPROT | Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. | 27854360 | 2017 |
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|
0.810 | GeneticVariation | UNIPROT | ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. | 25356965 | 2015 |
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|
0.810 | GeneticVariation | UNIPROT | A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. | 25394175 | 2015 |
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|
0.810 | GeneticVariation | UNIPROT | Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. | 24893135 | 2014 |
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|
0.810 | GeneticVariation | UNIPROT | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. | 23788249 | 2013 |
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|
0.810 | GeneticVariation | UNIPROT | Canadian guideline on genetic screening for hereditary renal cell cancers. | 24319509 | 2013 |
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|
0.810 | GeneticVariation | BEFREE | To our knowledge, the Ser80Ile mutation has not been previously described in VHL</span> type 2 patients with high risk of pheochromocytoma and renal cell cancer. | 18416845 | 2008 |
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|
0.810 | GeneticVariation | UNIPROT | Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. | 15604628 | 2004 |
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|
T | 0.810 | CausalMutation | CLINVAR |