| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Novel mutations in the RB1 gene from Chinese families with a history of retinoblastoma. | 25424699 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Genetic screening in patients with Retinoblastoma in Israel. | 25754945 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma. | 25928201 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients. | 26084579 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Detection of mosaic RB1 mutations in families with retinoblastoma. | 19280657 | 2009 |
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|
T | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype correlations in hereditary familial retinoblastoma. | 17096365 | 2007 |
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|
T | 0.700 | CausalMutation | CLINVAR | RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database. | 16269091 | 2005 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations. | 12955724 | 2003 |
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|
T | 0.700 | CausalMutation | CLINVAR | Three novel germline mutations in exons 8 and 18 of the retinoblastoma gene. | 7981694 | 1994 |
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|
T | 0.700 | CausalMutation | CLINVAR | Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma. | 7704558 | 1994 |