Hyperhomocysteinemia, thrombotic, cbs-related: genes and variants
Explore variant evidence for Hyperhomocysteinemia, thrombotic, cbs-related across 1 analyzed protein (CBS). Linked ClinVar records include 59 pathogenic or likely pathogenic variants, 144 variants of uncertain significance and 39 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Counts refer to the selected disease label.
Data updated 2026-10-11. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Hyperhomocysteinemia, thrombotic, cbs-related
CBS: Cystathionine beta-synthase
A vitamin B6-dependent enzyme that combines homocysteine and serine to form cystathionine in the transsulfuration pathway. Deficiency causes homocystinuria.
59 ClinVar pathogenic / likely pathogenic and 183 uncertain variants in CBS have source records linked to Hyperhomocysteinemia, thrombotic, cbs-related. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Hyperhomocysteinemia, thrombotic, cbs-related
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CBS R121L | 121 | Pathogenic / likely pathogenic (★★) | |
| CBS R121G | 121 | Pathogenic / likely pathogenic (★★) | |
| CBS P145L | 145 | Pathogenic / likely pathogenic (★★) | |
| CBS G148R | 148 | Pathogenic / likely pathogenic (★★) | |
| CBS E176K | 176 | Pathogenic / likely pathogenic (★★) | |
| CBS N228K | 228 | Pathogenic / likely pathogenic (★★) | |
| CBS G259S | 259 | Pathogenic / likely pathogenic (★★) | |
| CBS R336C | 336 | Pathogenic / likely pathogenic (★★) | |
| CBS P88S | 88 | Pathogenic / likely pathogenic (★★) | |
| CBS C109R | 109 | Pathogenic / likely pathogenic (★★) | |
| CBS R336P | 336 | Pathogenic / likely pathogenic (★★) | |
| CBS R336H | 336 | Pathogenic / likely pathogenic (★★) | |
| CBS G85R | 85 | Pathogenic / likely pathogenic (★★) | |
| CBS L101P | 101 | Pathogenic / likely pathogenic (★★) | |
| CBS G116R | 116 | Pathogenic / likely pathogenic (★★) | |
| CBS A226T | 226 | Pathogenic / likely pathogenic (★★) | |
| CBS N228S | 228 | Pathogenic / likely pathogenic (★★) | |
| CBS C370Y | 370 | Pathogenic / likely pathogenic (★★) | |
| CBS D120G | 120 | Pathogenic / likely pathogenic (★★) | |
| CBS G151R | 151 | Pathogenic / likely pathogenic (★★) | |
| CBS A158V | 158 | Pathogenic / likely pathogenic (★★) | |
| CBS T257M | 257 | Pathogenic / likely pathogenic (★★) | |
| CBS T262A | 262 | Pathogenic / likely pathogenic (★★) | |
| CBS L338P | 338 | Pathogenic / likely pathogenic (★★) | |
| CBS H65R | 65 | Pathogenic / likely pathogenic (★★) | |
| CBS D376N | 376 | Pathogenic / likely pathogenic (★★) | |
| CBS L456P | 456 | CBS | Pathogenic / likely pathogenic (★★) |
| CBS L539S | 539 | Pathogenic / likely pathogenic (★★) | |
| CBS D234N | 234 | Pathogenic / likely pathogenic (★★) | |
| CBS R317G | 317 | Pathogenic / likely pathogenic (★★) | |
| CBS G11R | 11 | Pathogenic / likely pathogenic (★★) | |
| CBS D129N | 129 | Pathogenic / likely pathogenic (★★) | |
| CBS V320A | 320 | Pathogenic / likely pathogenic (★★) | |
| CBS P88R | 88 | Pathogenic / likely pathogenic (★) | |
| CBS P145R | 145 | Pathogenic / likely pathogenic (★) | |
| CBS G148A | 148 | Pathogenic / likely pathogenic (★) | |
| CBS E176G | 176 | Pathogenic / likely pathogenic (★) | |
| CBS E176D | 176 | Pathogenic / likely pathogenic (★) | |
| CBS G259D | 259 | Pathogenic / likely pathogenic (★) | |
| CBS G307D | 307 | Pathogenic / likely pathogenic (★) | |
| CBS G307V | 307 | Pathogenic / likely pathogenic (★) | |
| CBS G307A | 307 | Pathogenic / likely pathogenic (★) | |
| CBS C109Y | 109 | Pathogenic / likely pathogenic (★) | |
| CBS A226S | 226 | Pathogenic / likely pathogenic (★) | |
| CBS R336S | 336 | Pathogenic / likely pathogenic (★) | |
| CBS T262R | 262 | Pathogenic / likely pathogenic (★) | |
| CBS D47A | 47 | Pathogenic / likely pathogenic (★) | |
| CBS H65L | 65 | Pathogenic / likely pathogenic (★) | |
| CBS A158T | 158 | Pathogenic / likely pathogenic (★) | |
| CBS D47N | 47 | Pathogenic / likely pathogenic (★) | |
| CBS C52S | 52 | Pathogenic / likely pathogenic (★) | |
| CBS A114S | 114 | Pathogenic / likely pathogenic (★) | |
| CBS C165G | 165 | Pathogenic / likely pathogenic (★) | |
| CBS S349G | 349 | Pathogenic / likely pathogenic (★) | |
| CBS S352R | 352 | Pathogenic / likely pathogenic (★) | |
| CBS K384E | 384 | Pathogenic / likely pathogenic (★) | |
| CBS V371L | 371 | Pathogenic / likely pathogenic (★) | |
| CBS R379G | 379 | Pathogenic / likely pathogenic (★) | |
| CBS V454E | 454 | CBS | Pathogenic / likely pathogenic (★) |
Uncertain variants prioritized for review in Hyperhomocysteinemia, thrombotic, cbs-related
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| CBS A114T | 114 | Conflicting reports (★) | +7: 2 other pathogenic changes within 3 positions; A114S at the same position is pathogenic; seen in 5.4e-06 of gnomAD DNA copies; REVEL 0.848 | |
| CBS G151W | 151 | Uncertain (★★) | +7: 3 other pathogenic changes within 3 positions; G151R at the same position is pathogenic; seen in 0 of gnomAD DNA copies; REVEL 0.958 | |
| CBS S349R | 349 | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; S349G at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.99 | |
| CBS E176Q | 176 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; E176G at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.95 | |
| CBS R336L | 336 | Conflicting reports (★) | +6: 5 other pathogenic changes within 3 positions; R336P at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.99 | |
| CBS P88A | 88 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; P88S at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.75 | |
| CBS D120N | 120 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; D120G at the same position is pathogenic; REVEL 0.920 | |
| CBS C370R | 370 | Uncertain (★) | +6: 2 other pathogenic changes within 3 positions; C370Y at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.98 |
Same protein, different disease
- Homocystinuria also has ClinVar records linked to CBS variants; they fall partly in the same places as the Hyperhomocysteinemia, thrombotic, cbs-related variants (51 pathogenic / likely pathogenic).
- Classic homocystinuria also has ClinVar records linked to CBS variants; they fall in the same places as the Hyperhomocysteinemia, thrombotic, cbs-related variants (37 pathogenic / likely pathogenic).
- Familial thoracic aortic aneurysm and aortic dissection also has ClinVar records linked to CBS variants; they fall partly in the same places as the Hyperhomocysteinemia, thrombotic, cbs-related variants (8 pathogenic / likely pathogenic).
Diseases related to Hyperhomocysteinemia, thrombotic, cbs-related
- Familial thoracic aortic aneurysm and aortic dissection, also linked to CBS
- Homocystinuria, also linked to CBS
- Classic homocystinuria, also linked to CBS
- Connective tissue disease, also linked to CBS
- Thoracic aortic aneurysm or dissection, also linked to CBS
Frequently asked questions
Which genes have records linked to Hyperhomocysteinemia, thrombotic, cbs-related?
This view contains 1 analyzed proteins: CBS. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 59 pathogenic or likely pathogenic variants, 144 variants of uncertain significance and 39 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 8 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 275 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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