Gene: CBS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568932835
rs1568932835
CBS
C 0.700 GeneticVariation CLINVAR Cystathionine beta-synthase mutations in homocystinuria. 10338090

1999
dbSNP: rs28934891
rs28934891
CBS
T 0.700 CausalMutation CLINVAR Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones. 20490928

2011
dbSNP: rs28934891
rs28934891
CBS
T 0.700 CausalMutation CLINVAR Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. 21520339

2011
dbSNP: rs28934891
rs28934891
CBS
T 0.700 CausalMutation CLINVAR CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations. 14722619

2004
dbSNP: rs28934891
rs28934891
CBS
T 0.700 CausalMutation 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
T 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: rs28934891
rs28934891
CBS
T 0.700 CausalMutation CLINVAR High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. 12007221

2002
dbSNP: rs28934891
rs28934891
CBS
T 0.700 CausalMutation CLINVAR Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins. 25044645

2014
dbSNP: rs28934891
rs28934891
CBS
T 0.700 CausalMutation CLINVAR Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. 8755636

1996
dbSNP: rs28934891
rs28934891
CBS
T 0.700 CausalMutation CLINVAR Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. 20506325

2010
dbSNP: rs28934891
rs28934891
CBS
T 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: rs28934891
rs28934891
CBS
T 0.700 CausalMutation CLINVAR [Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase]. 18805305

2008
dbSNP: rs372010465
rs372010465
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: rs372010465
rs372010465
CBS
T 0.700 CausalMutation CLINVAR Increased homocysteine in a patient diagnosed with Marfan syndrome. 21030686

2010
dbSNP: rs372010465
rs372010465
CBS
T 0.700 CausalMutation CLINVAR Surrogate genetics and metabolic profiling for characterization of human disease alleles. 22267502

2012
dbSNP: rs372010465
rs372010465
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: rs398123151
rs398123151
CBS
A 0.700 CausalMutation CLINVAR Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. 16205833

2005
dbSNP: rs398123151
rs398123151
CBS
A 0.700 CausalMutation CLINVAR Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype. 10408774

1999
dbSNP: rs398123151
rs398123151
CBS
A 0.700 CausalMutation CLINVAR Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. 16429402

2006
dbSNP: rs398123151
rs398123151
CBS
A 0.700 CausalMutation CLINVAR Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S. 12815602

2003
dbSNP: rs398123151
rs398123151
CBS
A 0.700 CausalMutation CLINVAR Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C. 26464485

2015
dbSNP: rs398123151
rs398123151
CBS
A 0.700 CausalMutation CLINVAR Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria. 21517828

2012
dbSNP: rs5742905
rs5742905
CBS
G 0.700 CausalMutation CLINVAR Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients. 7635485

1995
dbSNP: rs5742905
rs5742905
CBS
G 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: rs5742905
rs5742905
CBS
G 0.700 CausalMutation CLINVAR Vascular presentation of cystathionine beta-synthase deficiency in adulthood. 20567906

2011