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: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		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
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		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
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		T 0.700 CausalMutation CLINVAR Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. 21520339

2011
dbSNP: rs28934891
rs28934891
CBS
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		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
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		T 0.700 CausalMutation CLINVAR Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. 20506325

2010
dbSNP: rs28934891
rs28934891
CBS
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		T 0.700 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: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		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
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		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
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		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
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		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
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		T 0.700 CausalMutation CLINVAR Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. 8755636

1996