Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934891
rs28934891
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		T 0.800 GeneticVariation CLINVAR Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate. 25331909

2015
dbSNP: rs28934891
rs28934891
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		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
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		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
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		T 0.800 GeneticVariation CLINVAR Surrogate genetics and metabolic profiling for characterization of human disease alleles. 22267502

2012
dbSNP: rs28934891
rs28934891
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		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
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		T 0.800 GeneticVariation CLINVAR Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. 21520339

2011
dbSNP: rs28934891
rs28934891
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		T 0.800 CausalMutation CLINVAR Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. 21520339

2011
dbSNP: rs28934891
rs28934891
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		T 0.800 GeneticVariation CLINVAR Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. 20506325

2010
dbSNP: rs28934891
rs28934891
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		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
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		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
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		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
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		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
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		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
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		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
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		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
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		T 0.800 GeneticVariation CLINVAR Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency. 12552044

2003
dbSNP: rs28934891
rs28934891
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		T 0.800 CausalMutation CLINVAR Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency. 12552044

2003
dbSNP: rs28934891
rs28934891
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		T 0.800 GeneticVariation 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
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		T 0.800 GeneticVariation CLINVAR Alleviation of intrasteric inhibition by the pathogenic activation domain mutation, D444N, in human cystathionine beta-synthase. 12269827

2002
dbSNP: rs28934891
rs28934891
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		T 0.800 CausalMutation CLINVAR Alleviation of intrasteric inhibition by the pathogenic activation domain mutation, D444N, in human cystathionine beta-synthase. 12269827

2002
dbSNP: rs28934891
rs28934891
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		T 0.800 GeneticVariation CLINVAR Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. 8755636

1996
dbSNP: rs28934891
rs28934891
CBS
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		T 0.800 CausalMutation CLINVAR Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. 8755636

1996