CPT1B — 15 ClinVar variants
All ClinVar germline CPT1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
1 Likely benign · 14 Uncertain significance
Full CPT1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 9
The independent predictors disagree with each other — read with care.
- CPT1B p.Ala511Val Uncertain significance Single submitter
- CPT1B p.Ala577Gly Uncertain significance Single submitter
- CPT1B p.Arg285His Uncertain significance Single submitter
- CPT1B p.Gln6Arg Uncertain significance Single submitter
- CPT1B p.Ile242Leu Uncertain significance Single submitter
- CPT1B p.Leu158Arg Uncertain significance Single submitter
- CPT1B p.Met165Arg Uncertain significance Single submitter
- CPT1B p.Met725Thr Uncertain significance Single submitter
- CPT1B p.Ser607Pro Uncertain significance Single submitter
All CPT1B variants
Likely benign 1
- p.Ser435= Single submitter
Uncertain significance 14
- p.Ala511Val Single submitter ⚠
- p.Ala577Gly Single submitter ⚠
- p.Arg285His Single submitter ⚠
- p.Arg563Gln Single submitter ⚠
- p.Asn405His Single submitter ⚠
- p.Gln6Arg Single submitter ⚠
- p.Ile242Leu Single submitter ⚠
- p.Ile412Val Single submitter ⚠
- p.Leu158Arg Single submitter ⚠
- p.Met165Arg Single submitter ⚠
- p.Met304Ile Single submitter ⚠
- p.Met620Thr Single submitter ⚠
- p.Met725Thr Single submitter ⚠
- p.Ser607Pro Single submitter ⚠