Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853292
rs137853292
RB1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs137853292
rs137853292
RB1
0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs137853292
rs137853292
RB1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs137853292
rs137853292
RB1
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014
dbSNP: rs137853292
rs137853292
RB1
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs137853292
rs137853292
RB1
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs137853292
rs137853292
RB1
0.800 GeneticVariation UNIPROT Identification of four novel RB1 germline mutations in Korean retinoblastoma patients. 11524739

2001
dbSNP: rs137853292
rs137853292
RB1
0.800 GeneticVariation UNIPROT RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma. 9973307

1999
dbSNP: rs137853292
rs137853292
RB1
0.800 GeneticVariation UNIPROT Two patients with isolated bilateral retinoblastoma showed missense mutations, S567L and C712R, which have previously been reported in a patient with bilateral tumors and in a family with low penetrance, respectively. 10671068

1998
dbSNP: rs137853292
rs137853292
RB1
0.800 GeneticVariation UNIPROT Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma. 9311732

1997
dbSNP: rs137853292
rs137853292
RB1
0.800 GeneticVariation UNIPROT Genetics of retinoblastoma: a study. 9140452

1997
dbSNP: rs137853292
rs137853292
RB1
0.800 GeneticVariation UNIPROT Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene. 8776589

1996
dbSNP: rs137853292
rs137853292
RB1
0.800 GeneticVariation UNIPROT Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. 7795591

1995
dbSNP: rs137853292
rs137853292
RB1
0.800 GeneticVariation UNIPROT Germline mutations in the RB1 gene in patients with hereditary retinoblastoma. 8605116

1995
dbSNP: rs137853292
rs137853292
RB1
0.800 GeneticVariation UNIPROT Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma. 7927327

1994
dbSNP: rs137853292
rs137853292
RB1
0.800 GeneticVariation UNIPROT 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
dbSNP: rs137853292
rs137853292
RB1
0.800 GeneticVariation UNIPROT Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma. 8346255

1993
dbSNP: rs137853292
rs137853292
RB1
0.800 GeneticVariation UNIPROT Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype. 1352883

1992
dbSNP: rs137853292
rs137853292
RB1
0.800 GeneticVariation UNIPROT Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. 2594029

1989
dbSNP: rs137853292
rs137853292
RB1
T 0.800 CausalMutation CLINVAR