DEFB108B — 12 ClinVar variants
All ClinVar germline DEFB108B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
1 Benign · 11 Uncertain significance
Full DEFB108B 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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEFB108B p.Ala4Val Uncertain significance Single submitter
- DEFB108B p.Arg30Cys Uncertain significance Single submitter
- DEFB108B p.Asn32Asp Uncertain significance Single submitter
- DEFB108B p.Cys39Tyr Uncertain significance Single submitter
- DEFB108B p.Ile3Thr Uncertain significance Single submitter
- DEFB108B p.Lys72Arg Uncertain significance Single submitter
- DEFB108B p.Pro31Arg Uncertain significance Single submitter
- DEFB108B p.Pro63Gln Uncertain significance Single submitter
- DEFB108B p.Ser15Arg Uncertain significance Single submitter
- DEFB108B p.Thr68Ser Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All DEFB108B variants
Benign 1
- p.Gln53Arg Multiple submitters
Uncertain significance 11
- p.Ala4Val Single submitter ⚠
- p.Arg30Cys Single submitter ⚠
- p.Asn32Asp Single submitter ⚠
- p.Cys39Tyr Single submitter ⚠
- p.Ile3Thr Single submitter ⚠
- p.Lys72Arg Single submitter ⚠
- p.Phe24Leu Single submitter ⚠
- p.Pro31Arg Single submitter ⚠
- p.Pro63Gln Single submitter ⚠
- p.Ser15Arg Single submitter ⚠
- p.Thr68Ser Single submitter ⚠