DEFB126 — 14 ClinVar variants
All ClinVar germline DEFB126 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
2 Benign · 1 Likely benign · 11 Uncertain significance
Full DEFB126 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEFB126 p.Arg65His Uncertain significance Single submitter
- DEFB126 p.Cys38Arg Uncertain significance Single submitter
- DEFB126 p.Gly53Ser Uncertain significance Single submitter
- DEFB126 p.Lys76Glu Uncertain significance Single submitter
- DEFB126 p.Pro109His Uncertain significance Single submitter
- DEFB126 p.Ser101Leu Uncertain significance Single submitter
- DEFB126 p.Thr95Ile Uncertain significance Single submitter
- DEFB126 p.Trp49Arg Uncertain significance Single submitter
- DEFB126 p.Val70Leu Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All DEFB126 variants
Benign 2
- p.Gln55fs Single submitter
- p.Pro106fs Single submitter
Likely benign 1
- p.Val31Ile Single submitter
Uncertain significance 11
- p.Arg65Cys Single submitter ⚠
- p.Arg65His Single submitter ⚠
- p.Cys38Arg Single submitter ⚠
- p.Gly53Ser Single submitter ⚠
- p.Leu17Ser Single submitter ⚠
- p.Lys76Glu Single submitter ⚠
- p.Pro109His Single submitter ⚠
- p.Ser101Leu Single submitter ⚠
- p.Thr95Ile Single submitter ⚠
- p.Trp49Arg Single submitter ⚠
- p.Val70Leu Single submitter ⚠