Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | Lifetime cancer risks in individuals with germline PTEN mutations. | 22252256 | 2012 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. | 22595938 | 2012 |
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|
C | 0.700 | CausalMutation | CLINVAR | Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. | 28677221 | 2017 |
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|
G | 0.700 | CausalMutation | CLINVAR | Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. | 28677221 | 2017 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. | 28677221 | 2017 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. | 28677221 | 2017 |
|||
|
CGCTT | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. | 28677221 | 2017 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. | 21956414 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. | 22266152 | 2012 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Cognitive characteristics of PTEN hamartoma tumor syndromes. | 23470840 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. | 9259288 | 1997 |
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|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR |