DEFB129 — 25 ClinVar variants
All ClinVar germline DEFB129 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
4 Likely benign · 21 Uncertain significance
Full DEFB129 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEFB129 p.Ala163Val Uncertain significance Single submitter
- DEFB129 p.Arg26His Uncertain significance Single submitter
- DEFB129 p.Asn73Lys Uncertain significance Single submitter
- DEFB129 p.Asp154His Uncertain significance Single submitter
- DEFB129 p.Glu178Asp Uncertain significance Single submitter
- DEFB129 p.Glu182Lys Uncertain significance Single submitter
- DEFB129 p.Ile169Val Uncertain significance Single submitter
- DEFB129 p.Leu13Pro Uncertain significance Single submitter
- DEFB129 p.Lys43Asn Uncertain significance Single submitter
- DEFB129 p.Lys52Arg Uncertain significance Single submitter
- DEFB129 p.Lys87Glu Uncertain significance Single submitter
- DEFB129 p.Pro171Ser Uncertain significance Single submitter
- DEFB129 p.Pro57Gln Uncertain significance Single submitter
- DEFB129 p.Thr141Ala Uncertain significance Single submitter
- DEFB129 p.Val117Phe Uncertain significance Single submitter
- DEFB129 p.Val79Ala Uncertain significance Single submitter
- DEFB129 p.Val79Ile Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All DEFB129 variants
Likely benign 4
- p.Gln104Lys Single submitter
- p.Leu31Phe Single submitter
- p.Ala163Pro No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Pro165= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 21
- p.Ala163Val Single submitter ⚠
- p.Arg26Cys Single submitter ⚠
- p.Arg26His Single submitter ⚠
- p.Asn73Lys Single submitter ⚠
- p.Asp154His Single submitter ⚠
- p.Glu178Asp Single submitter ⚠
- p.Glu182Lys Single submitter ⚠
- p.Glu20Ala Single submitter ⚠
- p.Ile169Val Single submitter ⚠
- p.Leu13Pro Single submitter ⚠
- p.Lys43Asn Single submitter ⚠
- p.Lys52Arg Single submitter ⚠
- p.Lys87Glu Single submitter ⚠
- p.Pro171Ser Single submitter ⚠
- p.Pro57Gln Single submitter ⚠
- p.Pro6Ser Single submitter ⚠
- p.Thr141Ala Single submitter ⚠
- p.Val117Phe Single submitter ⚠
- p.Val17Met Single submitter ⚠
- p.Val79Ala Single submitter ⚠
- p.Val79Ile Single submitter ⚠