| 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 | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. | 23788249 | 2013 |
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|
0.810 | GeneticVariation | BEFREE | These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). | 19384065 | 2009 |
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|
0.810 | GeneticVariation | UNIPROT | Identification of two novel regulated serines in the N terminus of beta-catenin. | 12027456 | 2002 |
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|
0.810 | GeneticVariation | UNIPROT | beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. | 11703283 | 2001 |
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|
0.810 | GeneticVariation | UNIPROT | A common human skin tumour is caused by activating mutations in beta-catenin. | 10192393 | 1999 |
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|
G | 0.810 | CausalMutation | CLINVAR | ||||||
|
T | 0.810 | CausalMutation | CLINVAR |