| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
CA | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
TC | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | "Is the P25L a ""real"" VHL mutation?" | 11257211 | 2001 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | A Case of von Hippel-Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas. | 25715769 | 2016 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | A novel mutation in the von Hippel-Lindau gene. | 7987327 | 1994 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | A Novel von Hippel Lindau Gene Intronic Variant and Its Reclassification from VUS to Pathogenic: the Impact on a Large Family. | 26323595 | 2015 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | 25637381 | 2015 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Aggregation dynamics and identification of aggregation-prone mutants of the von Hippel-Lindau tumor suppressor protein. | 27179072 | 2016 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma. | 24969085 | 2014 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma. | 24969085 | 2014 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | BAP1 loss defines a new class of renal cell carcinoma. | 22683710 | 2012 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease. | 24707167 | 2014 |