| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | 25637381 | 2015 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. | 21343334 | 2011 |
|||
|
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 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Transcriptional functionality of germ line p53 mutants influences cancer phenotype. | 17606709 | 2007 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations. | 15580553 | 2005 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Initiation of human astrocytoma by clonal evolution of cells with progressive loss of p53 functions in a patient with a 283H TP53 germ-line mutation: evidence for a precursor lesion. | 12019170 | 2002 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Tumour p53 mutations exhibit promoter selective dominance over wild type p53. | 11896595 | 2002 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | p53 mutants can often transactivate promoters containing a p21 but not Bax or PIG3 responsive elements. | 11429705 | 2001 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Cells with TP53 mutations in low grade astrocytic tumors evolve clonally to malignancy and are an unfavorable prognostic factor. | 10557074 | 1999 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | A transforming p53 mutant, which binds DNA, transactivates and induces apoptosis reveals a nuclear:cytoplasmic shuttling defect. | 9525742 | 1998 |