Gene: FANCC ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104886457
rs104886457
FANCC ; AOPEP
A 0.700 CausalMutation CLINVAR Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X)in patients with Fanconi anemia in Pakistan. 28425259

2017
dbSNP: rs121917783
rs121917783
FANCC
A 0.700 CausalMutation CLINVAR Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. 27577878

2017
dbSNP: rs121917783
rs121917783
FANCC
A 0.700 CausalMutation CLINVAR Treatment Outcomes and Tumor Loss of Heterozygosity in Germline DNA Repair-deficient Prostate Cancer. 28259476

2017
dbSNP: rs121917783
rs121917783
FANCC
A 0.700 CausalMutation CLINVAR Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma. 28125078

2017
dbSNP: rs104886456
rs104886456
FANCC
A 0.700 CausalMutation CLINVAR The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers. 26778106

2016
dbSNP: rs104886456
rs104886456
FANCC
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: rs104886457
rs104886457
FANCC ; AOPEP
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: rs121917783
rs121917783
FANCC
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: rs104886456
rs104886456
FANCC
A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs104886456
rs104886456
FANCC
A 0.700 CausalMutation CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520

2013
dbSNP: rs104886456
rs104886456
FANCC
A 0.700 CausalMutation CLINVAR A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites. 22701786

2012
dbSNP: rs121917783
rs121917783
FANCC
A 0.700 CausalMutation CLINVAR Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. 23028338

2012
dbSNP: rs121917783
rs121917783
FANCC
A 0.700 CausalMutation CLINVAR Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 22778927

2012
dbSNP: rs121917783
rs121917783
FANCC
A 0.700 CausalMutation CLINVAR Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. 21659346

2011
dbSNP: rs121917783
rs121917783
FANCC
A 0.700 CausalMutation CLINVAR Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents. 20509860

2010
dbSNP: rs121917783
rs121917783
FANCC
A 0.700 CausalMutation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008
dbSNP: rs104886456
rs104886456
FANCC
A 0.700 CausalMutation CLINVAR Fanconi anemia in Ashkenazi Jews. 15516848

2004
dbSNP: rs104886456
rs104886456
FANCC
A 0.700 CausalMutation CLINVAR The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients. 10666230

2000
dbSNP: rs104886456
rs104886456
FANCC
A 0.700 CausalMutation CLINVAR Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. 8639804

1996
dbSNP: rs104886457
rs104886457
FANCC ; AOPEP
A 0.700 CausalMutation CLINVAR Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant. 8882868

1996
dbSNP: rs104886457
rs104886457
FANCC ; AOPEP
A 0.700 CausalMutation CLINVAR Novel mutations and polymorphisms in the Fanconi anemia group C gene. 8844212

1996
dbSNP: rs104886456
rs104886456
FANCC
A 0.700 CausalMutation CLINVAR Mutation analysis of the Fanconi anemia gene FACC. 8128956

1994
dbSNP: rs104886456
rs104886456
FANCC
A 0.700 CausalMutation CLINVAR A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. 8348157

1993
dbSNP: rs104886457
rs104886457
FANCC ; AOPEP
A 0.700 CausalMutation CLINVAR FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. 8103176

1993
dbSNP: rs121917783
rs121917783
FANCC
A 0.700 CausalMutation CLINVAR A nonsense mutation and exon skipping in the Fanconi anaemia group C gene. 7689011

1993