Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | GeneticVariation | CLINVAR | Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. | 15714081 | 2005 |
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|
0.800 | 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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|
0.800 | GeneticVariation | UNIPROT | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. | 23788249 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). | 22723327 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | Guidelines for diagnosis and therapy of MEN type 1 and type 2. | 11739416 | 2001 |
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|
0.800 | 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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|
0.800 | GeneticVariation | UNIPROT | American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. | 20065170 | 2010 |
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|
0.800 | 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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|
0.800 | GeneticVariation | UNIPROT | Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. | 15604628 | 2004 |