| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
A | 0.700 | CausalMutation | CLINVAR | Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients. | 25687217 | 2015 | ||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients. | 25687217 | 2015 | ||||||
|
|
|
0.010 | GeneticVariation | BEFREE | In addition, family members harboring the BAP1 c.1777C>T germline mutation developed other neoplastic disease including thyroid cancer. | 26774355 | 2016 | |||||||
|
|
|
0.010 | GeneticVariation | BEFREE | In the present study we report the identification of a novel germline BAP1 mutation, c.1777C>T, which produces a truncated BAP1 protein product and segregates with cancer. | 26774355 | 2016 | |||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.010 | GeneticVariation | BEFREE | In addition, family members harboring the BAP1 c.1777C>T germline mutation developed other neoplastic disease including thyroid cancer. | 26774355 | 2016 | |||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
CA | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
CA | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. | 22545102 | 2012 | ||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma. | 27181379 | 2016 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
CTAGTA | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
AC | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
GCCAGC | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR |