DEFA6 — 23 ClinVar variants
All ClinVar germline DEFA6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
1 Benign · 1 Likely benign · 21 Uncertain significance
Full DEFA6 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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEFA6 p.Ala33Gly Uncertain significance Single submitter
- DEFA6 p.Ala38Val Uncertain significance Single submitter
- DEFA6 p.Ala57Thr Uncertain significance Single submitter
- DEFA6 p.Ala63Pro Uncertain significance Single submitter
- DEFA6 p.Arg2Lys Uncertain significance Single submitter
- DEFA6 p.Arg42His Uncertain significance Single submitter
- DEFA6 p.Arg62Ser Uncertain significance Single submitter
- DEFA6 p.Arg76Lys Uncertain significance Single submitter
- DEFA6 p.Asp46His Uncertain significance Single submitter
- DEFA6 p.Glu40Asp Uncertain significance Single submitter
- DEFA6 p.Glu40Gly Uncertain significance Single submitter
- DEFA6 p.Glu82Gln Uncertain significance Single submitter
- DEFA6 p.Gly43Arg Uncertain significance Single submitter
- DEFA6 p.Leu61Val Uncertain significance Single submitter
- DEFA6 p.Ser66Thr Uncertain significance Single submitter
- DEFA6 p.Ser84Tyr Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All DEFA6 variants
Benign 1
- p.Glu35Asp Multiple submitters
Likely benign 1
- p.Val51Ile Single submitter
Uncertain significance 21
- p.Ala14Asp Single submitter ⚠
- p.Ala24Thr Single submitter ⚠
- p.Ala33Gly Single submitter ⚠
- p.Ala38Val Single submitter ⚠
- p.Ala57Thr Single submitter ⚠
- p.Ala63Pro Single submitter ⚠
- p.Arg2Lys Single submitter ⚠
- p.Arg42Cys Single submitter ⚠
- p.Arg42His Single submitter ⚠
- p.Arg62Ser Single submitter ⚠
- p.Arg76Lys Single submitter ⚠
- p.Asp46His Single submitter ⚠
- p.Glu40Asp Single submitter ⚠
- p.Glu40Gly Single submitter ⚠
- p.Glu82Gln Single submitter ⚠
- p.Gly43Arg Single submitter ⚠
- p.Leu22Phe Single submitter ⚠
- p.Leu61Val Single submitter ⚠
- p.Phe97Leu Single submitter ⚠
- p.Ser66Thr Single submitter ⚠
- p.Ser84Tyr Single submitter ⚠