Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434426
rs121434426
FANCG
A 0.710 CausalMutation CLINVAR A common ancestral haplotype is strongly suggested in the Korean and Japanese patients with Fanconi anemia (FA), because common mutations have been frequently found: c.2546delC and c.3720_3724delAAACA of FANCA; c.307+1G>C, c.1066C>T, and c.1589_1591delATA of FANCG. 25703136

2015
dbSNP: rs121434426
rs121434426
FANCG
0.710 GeneticVariation BEFREE Four common founder mutations were identified and included two FANCA mutations (c.2546delC and c.3720_3724delAAACA) and two FANCG mutations (c.307+1G>C and c.1066C>T), which had previously been commonly observed in a Japanese FA population. 23067021

2013
dbSNP: rs121917783
rs121917783
FANCC
A 0.710 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 0.710 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
0.710 GeneticVariation BEFREE Accordingly, a homozygous inactivating FANCC nonsense mutation (c.553C > T, p.R185X) was identified in HuH-7, resulting in partial transcriptional skipping of exon 6 and leading to the classic cellular FA hypersensitivity phenotype; HuH-7 cells exhibited a strongly reduced proliferation rate and a pronounced G2 cell cycle arrest at distinctly lower concentrations of ICL-agents than a panel of non-isogenic, FA pathway-proficient HCC cell lines. 20509860

2010
dbSNP: rs121434426
rs121434426
FANCG
A 0.710 CausalMutation CLINVAR Two common founder mutations of the fanconi anemia group G gene FANCG/XRCC9 in the Japanese population. 12673805

2003
dbSNP: rs121917783
rs121917783
FANCC
A 0.710 CausalMutation CLINVAR A nonsense mutation and exon skipping in the Fanconi anaemia group C gene. 7689011

1993
dbSNP: rs1302083447
rs1302083447
FANCA
G 0.700 CausalMutation CLINVAR Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia. 29269525

2018
dbSNP: rs149797103
rs149797103
FANCA
A 0.700 GeneticVariation CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742

2018
dbSNP: rs745568821
rs745568821
FANCA
C 0.700 CausalMutation CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742

2018
dbSNP: rs745882980
rs745882980
FANCA ; ZNF276
A 0.700 GeneticVariation CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742

2018
dbSNP: rs756140957
rs756140957
FANCA
T 0.700 GeneticVariation CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742

2018
dbSNP: rs761341952
rs761341952
FANCA
T 0.700 CausalMutation CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742

2018
dbSNP: rs104886457
rs104886457
FANCC ; AOPEP
A 0.700 CausalMutation CLINVAR IVS4+4A>T, del322G, and R548X, in FA patients. 28425259

2017
dbSNP: rs148473140
rs148473140
FANCA
A 0.700 CausalMutation CLINVAR Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. 28102861

2017
dbSNP: rs745882980
rs745882980
FANCA ; ZNF276
A 0.700 GeneticVariation CLINVAR A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients. 28717661

2017
dbSNP: rs745882980
rs745882980
FANCA ; ZNF276
A 0.700 GeneticVariation CLINVAR Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. 28102861

2017
dbSNP: rs761341952
rs761341952
FANCA
T 0.700 CausalMutation CLINVAR A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients. 28717661

2017
dbSNP: rs769547477
rs769547477
FANCG
C 0.700 CausalMutation CLINVAR A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients. 28717661

2017
dbSNP: rs772359099
rs772359099
FANCA
T 0.700 CausalMutation CLINVAR Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer. 28423363

2017
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: rs104886459
rs104886459
FANCC
T 0.700 CausalMutation CLINVAR Fanconi Anemia Proteins Function in Mitophagy and Immunity. 27133164

2016
dbSNP: rs1166286386
rs1166286386
FANCA
T 0.700 CausalMutation CLINVAR FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients. 26799702

2016
dbSNP: rs137852986
rs137852986
BRIP1
A 0.700 CausalMutation CLINVAR Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients. 26968956

2016
dbSNP: rs147021911
rs147021911
FANCM
T 0.700 SusceptibilityMutation CLINVAR FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome. 27542569

2016