DEFB134 — 11 ClinVar variants
All ClinVar germline DEFB134 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
11 Uncertain significance
Full DEFB134 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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEFB134 p.Ala65Val Uncertain significance Single submitter
- DEFB134 p.Asn35Ser Uncertain significance Single submitter
- DEFB134 p.Cys32Ser Uncertain significance Single submitter
- DEFB134 p.Cys38Phe Uncertain significance Single submitter
- DEFB134 p.His29Asn Uncertain significance Single submitter
- DEFB134 p.Leu40His Uncertain significance Single submitter
- DEFB134 p.Lys30Asn Uncertain significance Single submitter
- DEFB134 p.Lys61Glu Uncertain significance Single submitter
- DEFB134 p.Ser23Leu Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All DEFB134 variants
Uncertain significance 11
- p.Ala65Val Single submitter ⚠
- p.Asn35Ser Single submitter ⚠
- p.Cys32Ser Single submitter ⚠
- p.Cys38Phe Single submitter ⚠
- p.His29Asn Single submitter ⚠
- p.Leu40His Single submitter ⚠
- p.Leu56Pro Single submitter ⚠
- p.Lys30Asn Single submitter ⚠
- p.Lys61Glu Single submitter ⚠
- p.Phe10Ser Single submitter ⚠
- p.Ser23Leu Single submitter ⚠