| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS. | 25218699 | 2015 |
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G | 0.700 | CausalMutation | CLINVAR | High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands. | 24211323 | 2014 |
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|
G | 0.700 | CausalMutation | CLINVAR | Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones. | 20490928 | 2011 |
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|
G | 0.700 | CausalMutation | CLINVAR | Vascular presentation of cystathionine beta-synthase deficiency in adulthood. | 20567906 | 2011 |
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|
G | 0.700 | CausalMutation | CLINVAR | Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. | 20506325 | 2010 |
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|
G | 0.700 | CausalMutation | CLINVAR | Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria. | 15146473 | 2004 |
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G | 0.700 | CausalMutation | CLINVAR | The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype. | 15365998 | 2004 |
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|
G | 0.700 | CausalMutation | CLINVAR | Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. | 11359213 | 2001 |
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|
G | 0.700 | CausalMutation | CLINVAR | Identification of a splice site mutation in the cystathionine beta-synthase gene resulting in variable and novel splicing defects of pre-mRNA. | 9232191 | 1997 |
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G | 0.700 | CausalMutation | CLINVAR | Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency. | 1301198 | 1992 |