Gene: BRIP1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730881645
rs730881645
BRIP1
G 0.700 GeneticVariation CLINVAR The effects of genomic germline variant reclassification on clinical cancer care. 30728895

2019
dbSNP: rs587781321
rs587781321
BRIP1
T 0.700 CausalMutation CLINVAR Pathogenic Germline Variants in 10,389 Adult Cancers. 29625052

2018
dbSNP: rs730881645
rs730881645
BRIP1
G 0.700 GeneticVariation CLINVAR Inherited Breast Cancer in Nigerian Women. 30130155

2018
dbSNP: rs587781321
rs587781321
BRIP1
T 0.700 CausalMutation CLINVAR Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. 26786923

2016
dbSNP: rs730881649
rs730881649
BRIP1
C 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs587781321
rs587781321
BRIP1
T 0.700 CausalMutation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354

2015
dbSNP: rs587782410
rs587782410
BRIP1
C 0.700 GeneticVariation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354

2015
dbSNP: rs730881645
rs730881645
BRIP1
G 0.700 GeneticVariation CLINVAR Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. 25186627

2015
dbSNP: rs730881649
rs730881649
BRIP1
C 0.700 CausalMutation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354

2015
dbSNP: rs747604569
rs747604569
BRIP1
A 0.700 GeneticVariation CLINVAR Aberrant recombination and repair during immunoglobulin class switching in BRCA1-deficient human B cells. 25646469

2015
dbSNP: rs747604569
rs747604569
BRIP1
A 0.700 GeneticVariation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
dbSNP: rs587781321
rs587781321
BRIP1
T 0.700 CausalMutation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014
dbSNP: rs587781321
rs587781321
BRIP1
T 0.700 CausalMutation CLINVAR Integrated analysis of germline and somatic variants in ovarian cancer. 24448499

2014
dbSNP: rs730881649
rs730881649
BRIP1
C 0.700 CausalMutation CLINVAR Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. 17033622

2006
dbSNP: rs730881649
rs730881649
BRIP1
C 0.700 CausalMutation CLINVAR The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 16116423

2005
dbSNP: rs575595017
rs575595017
BRIP1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs775171520
rs775171520
BRIP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs786203521
rs786203521
BRIP1
GT 0.700 GeneticVariation CLINVAR

dbSNP: rs876660125
rs876660125
BRIP1
A 0.700 CausalMutation CLINVAR