Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934891
rs28934891
CBS
T 0.800 GeneticVariation CLINVAR Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate. 25331909

2015
dbSNP: rs28934891
rs28934891
CBS
0.800 GeneticVariation UNIPROT Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients. 23974653

2014
dbSNP: rs28934891
rs28934891
CBS
T 0.800 GeneticVariation CLINVAR Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients. 23974653

2014
dbSNP: rs28934891
rs28934891
CBS
0.800 GeneticVariation UNIPROT Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins. 25044645

2014
dbSNP: rs28934891
rs28934891
CBS
T 0.800 CausalMutation CLINVAR Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts. 22069143

2012
dbSNP: rs28934891
rs28934891
CBS
0.800 GeneticVariation UNIPROT Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase. 22738154

2012
dbSNP: rs28934891
rs28934891
CBS
T 0.800 GeneticVariation CLINVAR Surrogate genetics and metabolic profiling for characterization of human disease alleles. 22267502

2012
dbSNP: rs28934891
rs28934891
CBS
T 0.800 GeneticVariation CLINVAR Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. 21520339

2011
dbSNP: rs28934891
rs28934891
CBS
0.800 GeneticVariation UNIPROT CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient. 21240075

2011
dbSNP: rs28934891
rs28934891
CBS
T 0.800 GeneticVariation CLINVAR Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones. 20490928

2011
dbSNP: rs28934891
rs28934891
CBS
T 0.800 CausalMutation CLINVAR Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. 21520339

2011
dbSNP: rs28934891
rs28934891
CBS
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs28934891
rs28934891
CBS
T 0.800 GeneticVariation CLINVAR Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. 20506325

2010
dbSNP: rs28934891
rs28934891
CBS
T 0.800 GeneticVariation CLINVAR [Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase]. 18805305

2008
dbSNP: rs28934891
rs28934891
CBS
T 0.800 CausalMutation CLINVAR [Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase]. 18805305

2008
dbSNP: rs28934891
rs28934891
CBS
0.800 GeneticVariation UNIPROT Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. 16429402

2006
dbSNP: rs28934891
rs28934891
CBS
T 0.800 CausalMutation CLINVAR The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. 16479318

2006
dbSNP: rs28934891
rs28934891
CBS
T 0.800 GeneticVariation CLINVAR The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. 16479318

2006
dbSNP: rs28934891
rs28934891
CBS
0.800 GeneticVariation UNIPROT Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. 16205833

2005
dbSNP: rs28934891
rs28934891
CBS
T 0.800 GeneticVariation CLINVAR Mapping peptides correlated with transmission of intrasteric inhibition and allosteric activation in human cystathionine beta-synthase. 16245937

2005
dbSNP: rs28934891
rs28934891
CBS
T 0.800 GeneticVariation CLINVAR Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6. 14972327

2004
dbSNP: rs28934891
rs28934891
CBS
0.800 GeneticVariation UNIPROT The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype. 15365998

2004
dbSNP: rs28934891
rs28934891
CBS
0.800 GeneticVariation UNIPROT Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria. 15146473

2004
dbSNP: rs28934891
rs28934891
CBS
T 0.800 GeneticVariation CLINVAR The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria. 14722927

2004
dbSNP: rs28934891
rs28934891
CBS
0.800 GeneticVariation UNIPROT Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype. 14635102

2003