| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. | 28677221 | 2017 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | KLLN epigenotype-phenotype associations in Cowden syndrome. | 25669429 | 2015 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome. | 24379037 | 2013 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. | 23335809 | 2013 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. | 21194675 | 2011 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. | 20600018 | 2010 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Cowden disease in a family: a clinical and genetic diagnosis. | 16021145 | 2005 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. | 10400993 | 1999 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. | 9467011 | 1998 |
|||
|
A | 0.700 | CausalMutation | CLINVAR |