Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1019221239
rs1019221239
APC
G 0.700 CausalMutation CLINVAR Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques. 9101302

1997
dbSNP: rs1019340046
rs1019340046
TP53
T 0.700 GeneticVariation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003
dbSNP: rs1019340046
rs1019340046
TP53
T 0.700 GeneticVariation CLINVAR 2009 version of the Chompret criteria for Li Fraumeni syndrome. 19652052

2009
dbSNP: rs1019340046
rs1019340046
TP53
T 0.700 GeneticVariation CLINVAR Inactive full-length p53 mutants lacking dominant wild-type p53 inhibition highlight loss of heterozygosity as an important aspect of p53 status in human cancers. 16861262

2007
dbSNP: rs1019340046
rs1019340046
TP53
T 0.700 GeneticVariation CLINVAR Dominant-negative p53 mutations selected in yeast hit cancer hot spots. 8633021

1996
dbSNP: rs1021662947
rs1021662947
PALB2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1023534466
rs1023534466
MSH6 ; FBXO11
T 0.700 CausalMutation CLINVAR

dbSNP: rs1025339570
rs1025339570
ATM
A 0.700 CausalMutation CLINVAR

dbSNP: rs1028347439
rs1028347439
BRIP1
A 0.700 CausalMutation CLINVAR

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

2012
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: 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 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 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 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 Fanconi anemia in Ashkenazi Jews. 15516848

2004
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: rs104886456
rs104886456
FANCC
A 0.700 CausalMutation CLINVAR Mutation analysis of the Fanconi anemia gene FACC. 8128956

1994
dbSNP: rs104886457
rs104886457
FANCC ; AOPEP
A 0.700 CausalMutation CLINVAR Novel mutations and polymorphisms in the Fanconi anemia group C gene. 8844212

1996
dbSNP: rs104886457
rs104886457
FANCC ; AOPEP
A 0.700 CausalMutation CLINVAR FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. 8103176

1993
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: 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 Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X)in patients with Fanconi anemia in Pakistan. 28425259

2017
dbSNP: rs104893825
rs104893825
VHL
T 0.700 CausalMutation CLINVAR Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 19336503

2009