BICDL2 — 6 ClinVar variants
All ClinVar germline BICDL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 6 flagged for review →
1 Likely benign · 5 Uncertain significance
Full BICDL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 6
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 1
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 5
The independent predictors disagree with each other — read with care.
All BICDL2 variants
Likely benign 1
- p.Arg129Gln Single submitter ⚠
Uncertain significance 5
- p.Ala392Val Single submitter ⚠
- p.Arg271Lys Single submitter ⚠
- p.Arg274Trp Single submitter ⚠
- p.Arg95Trp Single submitter ⚠
- p.Gln310His Single submitter ⚠