DEFA5 — 34 ClinVar variants
All ClinVar germline DEFA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
1 Benign · 33 Uncertain significance
Full DEFA5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEFA5 p.Ala17Ser Uncertain significance Single submitter
- DEFA5 p.Ala29Val Uncertain significance Single submitter
- DEFA5 p.Ala63Val Uncertain significance Single submitter
- DEFA5 p.Ala9Thr Uncertain significance Single submitter
- DEFA5 p.Arg71Gly Uncertain significance Single submitter
- DEFA5 p.Cys92Tyr Uncertain significance Single submitter
- DEFA5 p.Gln40Lys Uncertain significance Single submitter
- DEFA5 p.Glu24Gln Uncertain significance Single submitter
- DEFA5 p.Gly36Arg Uncertain significance Single submitter
- DEFA5 p.Gly86Ser Uncertain significance Single submitter
- DEFA5 p.Ile4Thr Uncertain significance Single submitter
- DEFA5 p.Leu42Arg Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- DEFA5 p.Arg71His Benign Multiple submitters
- DEFA5 p.Ala14Gly Uncertain significance Single submitter
- DEFA5 p.Ala14Thr Uncertain significance Single submitter
- DEFA5 p.Ala19Val Uncertain significance Single submitter
- DEFA5 p.Ala29Pro Uncertain significance Single submitter
- DEFA5 p.Arg2Gly Uncertain significance Single submitter
- DEFA5 p.Arg68Gln Uncertain significance Single submitter
- DEFA5 p.Arg75Cys Uncertain significance Single submitter
- DEFA5 p.Arg87His Uncertain significance Single submitter
- DEFA5 p.Arg94His Uncertain significance Single submitter
- DEFA5 p.Arg94Leu Uncertain significance Single submitter
- DEFA5 p.Asp38His Uncertain significance Single submitter
- DEFA5 p.Gln40His Uncertain significance Single submitter
- DEFA5 p.Glu20Asp Uncertain significance Single submitter
- DEFA5 p.Glu28Lys Uncertain significance Single submitter
- DEFA5 p.Gly70Ser Uncertain significance Single submitter
- DEFA5 p.Gly80Arg Uncertain significance Single submitter
- DEFA5 p.Ser35Cys Uncertain significance Single submitter
- DEFA5 p.Ser59Cys Uncertain significance Single submitter
- DEFA5 p.Thr64Asn Uncertain significance Single submitter
- DEFA5 p.Tyr66Cys Uncertain significance Single submitter
- DEFA5 p.Tyr89Cys Uncertain significance Single submitter
All DEFA5 variants
Benign 1
- p.Arg71His Multiple submitters ⚠
Uncertain significance 33
- p.Ala14Gly Single submitter ⚠
- p.Ala14Thr Single submitter ⚠
- p.Ala17Ser Single submitter ⚠
- p.Ala19Val Single submitter ⚠
- p.Ala29Pro Single submitter ⚠
- p.Ala29Val Single submitter ⚠
- p.Ala63Val Single submitter ⚠
- p.Ala9Thr Single submitter ⚠
- p.Arg2Gly Single submitter ⚠
- p.Arg68Gln Single submitter ⚠
- p.Arg71Gly Single submitter ⚠
- p.Arg75Cys Single submitter ⚠
- p.Arg87His Single submitter ⚠
- p.Arg94His Single submitter ⚠
- p.Arg94Leu Single submitter ⚠
- p.Asp38His Single submitter ⚠
- p.Cys92Tyr Single submitter ⚠
- p.Gln40His Single submitter ⚠
- p.Gln40Lys Single submitter ⚠
- p.Glu20Asp Single submitter ⚠
- p.Glu24Gln Single submitter ⚠
- p.Glu28Lys Single submitter ⚠
- p.Gly36Arg Single submitter ⚠
- p.Gly70Ser Single submitter ⚠
- p.Gly80Arg Single submitter ⚠
- p.Gly86Ser Single submitter ⚠
- p.Ile4Thr Single submitter ⚠
- p.Leu42Arg Single submitter ⚠
- p.Ser35Cys Single submitter ⚠
- p.Ser59Cys Single submitter ⚠
- p.Thr64Asn Single submitter ⚠
- p.Tyr66Cys Single submitter ⚠
- p.Tyr89Cys Single submitter ⚠