rs137853292
|
|
|
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 |
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.
|
28575107 |
2017 |
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.
|
26925970 |
2016 |
rs137853292
|
|
|
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 |
rs137853292
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs137853292
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
|
24493721 |
2014 |
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Spectrum of RB1 mutations identified in 403 retinoblastoma patients.
|
24225018 |
2014 |
rs137853292
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations.
|
23532519 |
2013 |
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Low-penetrant RB allele in small-cell cancer shows geldanamycin instability and discordant expression with mutant ras.
|
18677112 |
2008 |
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
"Comment on ""Lowpenetrant RB allele in small-cell cancer shows geldanamycin instability and discordant expression with mutant ras"" by Park et al."
|
18682685 |
2008 |
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlations in hereditary familial retinoblastoma.
|
17096365 |
2007 |
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
An E2F binding-deficient Rb1 protein partially rescues developmental defects associated with Rb1 nullizygosity.
|
16449662 |
2006 |
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
A novel constitutional mutation affecting splicing of retinoblastoma tumor suppressor gene intron 23 causes partial loss of pRB activity.
|
15643604 |
2005 |
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.
|
16269091 |
2005 |
rs137853292
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.
|
12541220 |
2003 |
rs137853292
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of four novel RB1 germline mutations in Korean retinoblastoma patients.
|
11524739 |
2001 |
rs137853294
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of four novel RB1 germline mutations in Korean retinoblastoma patients.
|
11524739 |
2001 |
rs137853296
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of four novel RB1 germline mutations in Korean retinoblastoma patients.
|
11524739 |
2001 |
rs137853292
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma.
|
9973307 |
1999 |
rs137853294
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families.
|
10486322 |
1999 |
rs137853294
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma.
|
9973307 |
1999 |
rs137853296
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma.
|
9973307 |
1999 |
rs137853292
|
|
|
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 |