DEFB1 — 24 ClinVar variants
All ClinVar germline DEFB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
1 Benign · 2 Likely benign · 21 Uncertain significance
Full DEFB1 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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEFB1 p.Ala19Thr Uncertain significance Single submitter
- DEFB1 p.Cys12Phe Uncertain significance Single submitter
- DEFB1 p.Cys44Tyr Uncertain significance Single submitter
- DEFB1 p.Cys59Tyr Uncertain significance Single submitter
- DEFB1 p.Gly57Ala Uncertain significance Single submitter
- DEFB1 p.Gly57Cys Uncertain significance Single submitter
- DEFB1 p.Leu15Phe Uncertain significance Single submitter
- DEFB1 p.Leu25Phe Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- DEFB1 p.Ala64Gly Uncertain significance Single submitter
- DEFB1 p.Asp33Gly Uncertain significance Single submitter
- DEFB1 p.Gly62Arg Uncertain significance Single submitter
- DEFB1 p.Leu28His Uncertain significance Single submitter
- DEFB1 p.Lys63Thr Uncertain significance Single submitter
- DEFB1 p.Phe24Cys Uncertain significance Single submitter
- DEFB1 p.Phe52Val Uncertain significance Single submitter
- DEFB1 p.Pro50Gln Uncertain significance Single submitter
- DEFB1 p.Pro50Leu Uncertain significance Single submitter
- DEFB1 p.Ser32Cys Uncertain significance Single submitter
- DEFB1 p.Ser39Thr Uncertain significance Single submitter
- DEFB1 p.Ser47Phe Uncertain significance Single submitter
- DEFB1 p.Val38Asp Uncertain significance Single submitter
All DEFB1 variants
Benign 1
- p.Gly27= Multiple submitters
Likely benign 2
- p.Cys37Ter Single submitter
- p.His30Gln Single submitter
Uncertain significance 21
- p.Ala19Thr Single submitter ⚠
- p.Ala64Gly Single submitter ⚠
- p.Asp33Gly Single submitter ⚠
- p.Cys12Phe Single submitter ⚠
- p.Cys44Tyr Single submitter ⚠
- p.Cys59Tyr Single submitter ⚠
- p.Gly57Ala Single submitter ⚠
- p.Gly57Cys Single submitter ⚠
- p.Gly62Arg Single submitter ⚠
- p.Leu15Phe Single submitter ⚠
- p.Leu25Phe Single submitter ⚠
- p.Leu28His Single submitter ⚠
- p.Lys63Thr Single submitter ⚠
- p.Phe24Cys Single submitter ⚠
- p.Phe52Val Single submitter ⚠
- p.Pro50Gln Single submitter ⚠
- p.Pro50Leu Single submitter ⚠
- p.Ser32Cys Single submitter ⚠
- p.Ser39Thr Single submitter ⚠
- p.Ser47Phe Single submitter ⚠
- p.Val38Asp Single submitter ⚠