Gene: CBS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964973
rs121964973
CBS
A 0.700 CausalMutation CLINVAR High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia. 16470595

2006
dbSNP: rs121964973
rs121964973
CBS
A 0.700 CausalMutation CLINVAR Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts. 22069143

2012
dbSNP: rs121964973
rs121964973
CBS
A 0.700 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: rs121964973
rs121964973
CBS
A 0.700 CausalMutation CLINVAR Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. 16429402

2006
dbSNP: rs121964973
rs121964973
CBS
A 0.700 CausalMutation CLINVAR Surrogate genetics and metabolic profiling for characterization of human disease alleles. 22267502

2012
dbSNP: rs1347651454
rs1347651454
CBS
T 0.700 CausalMutation CLINVAR Vascular presentation of cystathionine beta-synthase deficiency in adulthood. 20567906

2011
dbSNP: rs1347651454
rs1347651454
CBS
T 0.700 CausalMutation CLINVAR Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients. 7635485

1995
dbSNP: rs1347651454
rs1347651454
CBS
T 0.700 CausalMutation CLINVAR Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. 11359213

2001
dbSNP: rs1347651454
rs1347651454
CBS
T 0.700 CausalMutation CLINVAR Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. 20506325

2010
dbSNP: rs1347651454
rs1347651454
CBS
T 0.700 CausalMutation CLINVAR Surrogate genetics and metabolic profiling for characterization of human disease alleles. 22267502

2012
dbSNP: rs1347651454
rs1347651454
CBS
T 0.700 CausalMutation CLINVAR The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. 10364517

1999
dbSNP: rs1347651454
rs1347651454
CBS
T 0.700 CausalMutation CLINVAR The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. 12124992

2002
dbSNP: rs1347651454
rs1347651454
CBS
T 0.700 CausalMutation CLINVAR Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones. 20490928

2011
dbSNP: rs1347651454
rs1347651454
CBS
T 0.700 CausalMutation CLINVAR Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. Online. 10215408

1998
dbSNP: rs1347651454
rs1347651454
CBS
T 0.700 CausalMutation CLINVAR Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans. 18708589

2008
dbSNP: rs1361324844
rs1361324844
CBS
A 0.700 CausalMutation CLINVAR The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. 12124992

2002
dbSNP: rs148865119
rs148865119
CBS
A 0.700 GeneticVariation CLINVAR Human cystathionine β-synthase (CBS) contains two classes of binding sites for S-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAM. 22985361

2013
dbSNP: rs148865119
rs148865119
CBS
A 0.700 GeneticVariation CLINVAR Vascular and connective tissue features in 5 Italian patients with homocystinuria. 18280597

2009
dbSNP: rs148865119
rs148865119
CBS
A 0.700 GeneticVariation CLINVAR The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. 12124992

2002
dbSNP: rs148865119
rs148865119
CBS
A 0.700 GeneticVariation CLINVAR Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS. 25218699

2015
dbSNP: rs148865119
rs148865119
CBS
A 0.700 GeneticVariation CLINVAR Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family. 23733603

2013
dbSNP: rs148865119
rs148865119
CBS
A 0.700 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: rs148865119
rs148865119
CBS
A 0.700 GeneticVariation CLINVAR Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria. 9587029

1998
dbSNP: rs148865119
rs148865119
CBS
A 0.700 GeneticVariation CLINVAR Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. 21520339

2011
dbSNP: rs1568932835
rs1568932835
CBS
C 0.700 GeneticVariation CLINVAR The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. 12124992

2002