Gene: CBS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964962
rs121964962
CBS
T 0.700 CausalMutation CLINVAR Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase. 8744616

1996
dbSNP: rs121964962
rs121964962
CBS
T 0.700 CausalMutation CLINVAR Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria. 9889017

1998
dbSNP: rs121964962
rs121964962
CBS
T 0.700 CausalMutation CLINVAR Surrogate genetics and metabolic profiling for characterization of human disease alleles. 22267502

2012
dbSNP: rs121964962
rs121964962
CBS
T 0.700 CausalMutation CLINVAR High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients. 7581402

1995
dbSNP: rs121964962
rs121964962
CBS
T 0.700 CausalMutation CLINVAR Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. 7506602

1993
dbSNP: rs121964962
rs121964962
CBS
T 0.700 CausalMutation 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: rs121964962
rs121964962
CBS
T 0.700 CausalMutation CLINVAR Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. 20506325

2010
dbSNP: rs121964964
rs121964964
CBS
A 0.700 CausalMutation CLINVAR Conformational properties of nine purified cystathionine β-synthase mutants. 22612060

2012
dbSNP: rs121964964
rs121964964
CBS
A 0.700 CausalMutation CLINVAR Surrogate genetics and metabolic profiling for characterization of human disease alleles. 22267502

2012
dbSNP: rs121964964
rs121964964
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: rs121964964
rs121964964
CBS
A 0.700 CausalMutation CLINVAR Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones. 20490928

2011
dbSNP: rs121964964
rs121964964
CBS
A 0.700 CausalMutation CLINVAR The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. 7762555

1995
dbSNP: rs121964964
rs121964964
CBS
A 0.700 CausalMutation CLINVAR Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. 20506325

2010
dbSNP: rs121964972
rs121964972
CBS
A 0.700 CausalMutation CLINVAR Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. 16205833

2005
dbSNP: rs121964972
rs121964972
CBS
A 0.700 CausalMutation CLINVAR A forgotten lethal psychosis: a case report. 23812867

2014
dbSNP: rs121964972
rs121964972
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: rs121964972
rs121964972
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: rs121964972
rs121964972
CBS
A 0.700 CausalMutation CLINVAR Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. 21520339

2011
dbSNP: rs121964972
rs121964972
CBS
A 0.700 CausalMutation CLINVAR Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype. 14635102

2003
dbSNP: rs121964972
rs121964972
CBS
A 0.700 CausalMutation CLINVAR Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria. 9156316

1997
dbSNP: rs121964972
rs121964972
CBS
A 0.700 CausalMutation CLINVAR Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency. 11774777

2001
dbSNP: rs121964973
rs121964973
CBS
A 0.700 CausalMutation CLINVAR Cystathionine beta-synthase mutations in homocystinuria. 10338090

1999
dbSNP: rs121964973
rs121964973
CBS
A 0.700 CausalMutation CLINVAR Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS. 25218699

2015
dbSNP: rs121964973
rs121964973
CBS
A 0.700 CausalMutation CLINVAR Molecular analysis of homocystinuria in Brazilian patients. 15993874

2005
dbSNP: rs121964973
rs121964973
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