RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853292
rs137853292
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
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: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
T 0.800 CausalMutation CLINVAR Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling. 28575107 2017
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
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
dbSNP: rs137853292
rs137853292
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
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
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
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
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
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: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
T 0.800 CausalMutation CLINVAR Spectrum of RB1 mutations identified in 403 retinoblastoma patients. 24225018 2014
dbSNP: rs137853292
rs137853292
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
T 0.800 CausalMutation CLINVAR Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations. 23532519 2013
dbSNP: rs121434309
rs121434309
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C3279470
Disease:
HYPOTRICHOSIS 8
0.800 GeneticVariation UNIPROT Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. 18297072 2008
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
T 0.800 CausalMutation CLINVAR Low-penetrant RB allele in small-cell cancer shows geldanamycin instability and discordant expression with mutant ras. 18677112 2008
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
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
dbSNP: rs879255262
rs879255262
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C3279470
Disease:
HYPOTRICHOSIS 8
0.800 GeneticVariation UNIPROT Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. 18297072 2008
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
T 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in hereditary familial retinoblastoma. 17096365 2007
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
T 0.800 CausalMutation CLINVAR An E2F binding-deficient Rb1 protein partially rescues developmental defects associated with Rb1 nullizygosity. 16449662 2006
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
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
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
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
dbSNP: rs137853292
rs137853292
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
T 0.800 CausalMutation CLINVAR Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. 12541220 2003
dbSNP: rs137853292
rs137853292
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
0.800 GeneticVariation UNIPROT Identification of four novel RB1 germline mutations in Korean retinoblastoma patients. 11524739 2001
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
0.800 GeneticVariation UNIPROT Identification of four novel RB1 germline mutations in Korean retinoblastoma patients. 11524739 2001
dbSNP: rs137853296
rs137853296
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
0.800 GeneticVariation UNIPROT Identification of four novel RB1 germline mutations in Korean retinoblastoma patients. 11524739 2001
dbSNP: rs137853292
rs137853292
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
0.800 GeneticVariation UNIPROT RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma. 9973307 1999
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
0.800 GeneticVariation UNIPROT RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma. 9973307 1999
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
T 0.800 CausalMutation CLINVAR Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families. 10486322 1999