Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. | 16773562 | 2006 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. | 20600018 | 2010 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. | 21659347 | 2011 |
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|
A | 0.700 | GeneticVariation | CLINVAR | High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. | 23335809 | 2013 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. | 27477328 | 2017 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Cognitive characteristics of PTEN hamartoma tumor syndromes. | 23470840 | 2013 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism. | 25288137 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. | 22266152 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR | A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus. | 16752378 | 2006 |