DEFB118 — 19 ClinVar variants
All ClinVar germline DEFB118 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
1 Likely benign · 18 Uncertain significance
Full DEFB118 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.
- DEFB118 p.Ala108Val Uncertain significance Single submitter
- DEFB118 p.Arg110Lys Uncertain significance Single submitter
- DEFB118 p.Asn118Ser Uncertain significance Single submitter
- DEFB118 p.Asn50Tyr Uncertain significance Single submitter
- DEFB118 p.Asp40Gly Uncertain significance Single submitter
- DEFB118 p.Cys48Arg Uncertain significance Single submitter
- DEFB118 p.Cys54Phe Uncertain significance Single submitter
- DEFB118 p.Cys54Tyr Uncertain significance Single submitter
- DEFB118 p.Glu105Lys Uncertain significance Single submitter
- DEFB118 p.His121Arg Uncertain significance Single submitter
- DEFB118 p.Ile18Thr Uncertain significance Single submitter
- DEFB118 p.Pro9Leu Uncertain significance Single submitter
- DEFB118 p.Ser122Asn Uncertain significance Single submitter
- DEFB118 p.Ser98Thr Uncertain significance Single submitter
- DEFB118 p.Thr91Ala Uncertain significance Single submitter
- DEFB118 p.Tyr93Cys Uncertain significance Single submitter
- DEFB118 p.Val119Ile Uncertain significance Single submitter
- DEFB118 p.Val17Leu Uncertain significance Single submitter
All DEFB118 variants
Likely benign 1
- p.Ala67= Single submitter
Uncertain significance 18
- p.Ala108Val Single submitter ⚠
- p.Arg110Lys Single submitter ⚠
- p.Asn118Ser Single submitter ⚠
- p.Asn50Tyr Single submitter ⚠
- p.Asp40Gly Single submitter ⚠
- p.Cys48Arg Single submitter ⚠
- p.Cys54Phe Single submitter ⚠
- p.Cys54Tyr Single submitter ⚠
- p.Glu105Lys Single submitter ⚠
- p.His121Arg Single submitter ⚠
- p.Ile18Thr Single submitter ⚠
- p.Pro9Leu Single submitter ⚠
- p.Ser122Asn Single submitter ⚠
- p.Ser98Thr Single submitter ⚠
- p.Thr91Ala Single submitter ⚠
- p.Tyr93Cys Single submitter ⚠
- p.Val119Ile Single submitter ⚠
- p.Val17Leu Single submitter ⚠