DEFB132 — 19 ClinVar variants
All ClinVar germline DEFB132 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
1 Likely benign · 18 Uncertain significance
Full DEFB132 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEFB132 p.Ala22Val Uncertain significance Single submitter
- DEFB132 p.Ala51Thr Uncertain significance Single submitter
- DEFB132 p.Arg84Thr Uncertain significance Single submitter
- DEFB132 p.Cys27Arg Uncertain significance Single submitter
- DEFB132 p.Cys35Phe Uncertain significance Single submitter
- DEFB132 p.Cys56Tyr Uncertain significance Single submitter
- DEFB132 p.Gln89Lys Uncertain significance Single submitter
- DEFB132 p.Gln90His Uncertain significance Single submitter
- DEFB132 p.Gly12Arg Uncertain significance Single submitter
- DEFB132 p.Gly24Arg Uncertain significance Single submitter
- DEFB132 p.Gly24Glu Uncertain significance Single submitter
- DEFB132 p.Gly72Ser Uncertain significance Single submitter
- DEFB132 p.Leu46Phe Uncertain significance Single submitter
- DEFB132 p.Leu46Trp Uncertain significance Single submitter
- DEFB132 p.Leu70Phe Uncertain significance Single submitter
- DEFB132 p.Lys88Glu Uncertain significance Single submitter
- DEFB132 p.Pro32Ser Uncertain significance Single submitter
- DEFB132 p.Pro63Leu Uncertain significance Single submitter
All DEFB132 variants
Likely benign 1
- p.Trp41Ser Single submitter
Uncertain significance 18
- p.Ala22Val Single submitter ⚠
- p.Ala51Thr Single submitter ⚠
- p.Arg84Thr Single submitter ⚠
- p.Cys27Arg Single submitter ⚠
- p.Cys35Phe Single submitter ⚠
- p.Cys56Tyr Single submitter ⚠
- p.Gln89Lys Single submitter ⚠
- p.Gln90His Single submitter ⚠
- p.Gly12Arg Single submitter ⚠
- p.Gly24Arg Single submitter ⚠
- p.Gly24Glu Single submitter ⚠
- p.Gly72Ser Single submitter ⚠
- p.Leu46Phe Single submitter ⚠
- p.Leu46Trp Single submitter ⚠
- p.Leu70Phe Single submitter ⚠
- p.Lys88Glu Single submitter ⚠
- p.Pro32Ser Single submitter ⚠
- p.Pro63Leu Single submitter ⚠