Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. 29368626 2018
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR FANCJ is essential to maintain microsatellite structure genome-wide during replication stress. 27179029 2016
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. 26921362 2016
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 GeneticVariation CLINVAR No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. 26921362 2016
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 26822949 2016
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 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: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 GeneticVariation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354 2015
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 GeneticVariation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. 24240112 2014
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 GeneticVariation CLINVAR Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease. 24556621 2014
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease. 24556621 2014
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR Mutations in BRIP1 confer high risk of ovarian cancer. 21964575 2011
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 GeneticVariation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311 2011
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 GeneticVariation CLINVAR Mutations in BRIP1 confer high risk of ovarian cancer. 21964575 2011
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 GeneticVariation CLINVAR Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes. 20639400 2010
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort. 19763819 2010
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 GeneticVariation CLINVAR A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer. 19127258 2009
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer. 19127258 2009
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 GeneticVariation CLINVAR Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. 17033622 2006
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. 17033622 2006
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 GeneticVariation CLINVAR BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. 16153896 2005
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 GeneticVariation CLINVAR The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 16116424 2005
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 16116424 2005
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 GeneticVariation CLINVAR The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 16116423 2005