Gene: BLM ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747281324
rs747281324
BLM
G 0.800 GeneticVariation CLINVAR Disease-causing missense mutations in human DNA helicase disorders. 23276657

2015
dbSNP: rs747281324
rs747281324
BLM
G 0.800 GeneticVariation CLINVAR Multimeric BLM is dissociated upon ATP hydrolysis and functions as monomers in resolving DNA structures. 22885301

2012
dbSNP: rs747281324
rs747281324
BLM
G 0.800 GeneticVariation CLINVAR The Q motif of Fanconi anemia group J protein (FANCJ) DNA helicase regulates its dimerization, DNA binding, and DNA repair function. 22582397

2012
dbSNP: rs367543029
rs367543029
BLM
C 0.800 CausalMutation CLINVAR Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. 17407155

2007
dbSNP: rs367543029
rs367543029
BLM
C 0.800 GeneticVariation CLINVAR Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. 17407155

2007
dbSNP: rs747281324
rs747281324
BLM
G 0.800 GeneticVariation CLINVAR Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. 17407155

2007
dbSNP: rs747281324
rs747281324
BLM
G 0.800 GeneticVariation CLINVAR Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein. 17878217

2007
dbSNP: rs747281324
rs747281324
BLM
G 0.800 GeneticVariation CLINVAR Human Bloom protein stimulates flap endonuclease 1 activity by resolving DNA secondary structure. 15579905

2005
dbSNP: rs747281324
rs747281324
BLM
G 0.800 GeneticVariation CLINVAR The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes telomeric DNA synthesis. 12444098

2002
dbSNP: rs747281324
rs747281324
BLM
G 0.800 GeneticVariation CLINVAR Elevation of sister chromatid exchange in Saccharomyces cerevisiae sgs1 disruptants and the relevance of the disruptants as a system to evaluate mutations in Bloom's syndrome gene. 10812332

2000
dbSNP: rs747281324
rs747281324
BLM
G 0.800 GeneticVariation CLINVAR Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain. 10965492

2000
dbSNP: rs367543029
rs367543029
BLM
C 0.800 CausalMutation CLINVAR The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells. 10069810

1999
dbSNP: rs747281324
rs747281324
BLM
G 0.800 GeneticVariation CLINVAR The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells. 10069810

1999
dbSNP: rs367543029
rs367543029
BLM
C 0.800 CausalMutation CLINVAR The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry. 9837821

1998
dbSNP: rs367543029
rs367543029
BLM
C 0.800 GeneticVariation CLINVAR Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein. 9840919

1998
dbSNP: rs747281324
rs747281324
BLM
G 0.800 GeneticVariation CLINVAR Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein. 9840919

1998
dbSNP: rs367543029
rs367543029
BLM
C 0.800 GeneticVariation CLINVAR The Bloom's syndrome gene product is homologous to RecQ helicases. 7585968

1995
dbSNP: rs747281324
rs747281324
BLM
G 0.800 GeneticVariation CLINVAR The Bloom's syndrome gene product is homologous to RecQ helicases. 7585968

1995
dbSNP: rs137853153
rs137853153
BLM
T 0.800 CausalMutation CLINVAR

dbSNP: rs200389141
rs200389141
BLM
T 0.710 CausalMutation CLINVAR First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis. 28611551

2017
dbSNP: rs200389141
rs200389141
BLM
T 0.710 CausalMutation CLINVAR Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings. 26340805

2016
dbSNP: rs200389141
rs200389141
BLM
T 0.710 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs200389141
rs200389141
BLM
T 0.710 CausalMutation CLINVAR Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer. 26358404

2015
dbSNP: rs200389141
rs200389141
BLM
T 0.710 CausalMutation CLINVAR Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe. 25182961

2015
dbSNP: rs200389141
rs200389141
BLM
T 0.710 CausalMutation CLINVAR The frequency of the BLM p.Q548X (c.1642C>T) mutation in breast cancer patients from Russia is no higher than in the general population. 25399228

2014