| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 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 |
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T | 0.700 | CausalMutation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 |
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T | 0.700 | CausalMutation | CLINVAR | Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis. | 26138249 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. | 20685668 | 2010 |
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|
T | 0.700 | CausalMutation | CLINVAR | Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects. | 17411426 | 2007 |
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T | 0.700 | CausalMutation | CLINVAR | APC germ-line mutations in southern Spanish patients with familial adenomatous polyposis: genotype-phenotype correlations and identification of eight novel mutations. | 15857185 | 2005 |
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|
T | 0.700 | CausalMutation | CLINVAR | Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. | 20223039 | 2005 |
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|
T | 0.700 | CausalMutation | CLINVAR | Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations. | 15024739 | 2004 |
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T | 0.700 | CausalMutation | CLINVAR | Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutation. | 10094547 | 1999 |
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T | 0.700 | CausalMutation | CLINVAR | Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. | 1316610 | 1992 |