| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | The genetic landscape of high-risk neuroblastoma. | 23334666 | 2013 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | The genetic landscape of high-risk neuroblastoma. | 23334666 | 2013 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
GT | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | PALB2 and breast cancer: ready for clinical translation! | 23935381 | 2013 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families. | 22692731 | 2012 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination. | 20871615 | 2010 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | A PALB2-interacting domain in RNF168 couples homologous recombination to DNA break-induced chromatin ubiquitylation. | 28240985 | 2017 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. | 24141787 | 2014 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | 26681312 | 2016 |