| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling. | 28575107 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. | 26787237 | 2016 |
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T | 0.700 | CausalMutation | CLINVAR | Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort. | 27582626 | 2016 |
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|
T | 0.700 | CausalMutation | CLINVAR | Germline Mutations in Predisposition Genes in Pediatric Cancer. | 26580448 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | RB loss in resistant EGFR mutant lung adenocarcinomas that transform to small-cell lung cancer. | 25758528 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations. | 24791139 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | Phenotypic variability of retinocytomas: preregression and postregression growth patterns. | 22328814 | 2012 |
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T | 0.700 | CausalMutation | CLINVAR | Ten novel RB1 gene mutations in patients with retinoblastoma. | 17960112 | 2007 |
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|
T | 0.700 | CausalMutation | CLINVAR | Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. | 12541220 | 2003 |
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T | 0.700 | CausalMutation | CLINVAR | Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. | 2594029 | 1989 |