| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Analysis of protein-coding genetic variation in 60,706 humans. | 27535533 | 2016 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 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 | 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 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Male breast cancer in Cowden syndrome patients with germline PTEN mutations. | 11238682 | 2001 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations. | 20712882 | 2010 |
|||
|
AT | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
CT | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
TGACAATCATGTTG | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. | 28677221 | 2017 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 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 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. | 28677221 | 2017 |
|||
|
G | 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 | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR |