DEFB112 — 7 ClinVar variants
All ClinVar germline DEFB112 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 7 flagged for review →
7 Uncertain significance
Full DEFB112 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 7
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEFB112 c.58+1261A>G Uncertain significance Single submitter
- DEFB112 p.Arg93Cys Uncertain significance Single submitter
- DEFB112 p.Asp48Gly Uncertain significance Single submitter
- DEFB112 p.Lys79Gln Uncertain significance Single submitter
- DEFB112 p.Pro59Leu Uncertain significance Single submitter
- DEFB112 p.Thr66Ala Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All DEFB112 variants
Uncertain significance 7
- c.58+1261A>G Single submitter ⚠
- p.Arg93Cys Single submitter ⚠
- p.Asp48Gly Single submitter ⚠
- p.Cys68Arg Single submitter ⚠
- p.Lys79Gln Single submitter ⚠
- p.Pro59Leu Single submitter ⚠
- p.Thr66Ala Single submitter ⚠