DEFB110 — 13 ClinVar variants
All ClinVar germline DEFB110 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
13 Uncertain significance
Full DEFB110 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEFB110 p.Ala19Val Uncertain significance Single submitter
- DEFB110 p.Arg32Lys Uncertain significance Single submitter
- DEFB110 p.Arg52Lys Uncertain significance Single submitter
- DEFB110 p.Glu34Gln Uncertain significance Single submitter
- DEFB110 p.Leu5Ile Uncertain significance Single submitter
- DEFB110 p.Lys21Asn Uncertain significance Single submitter
- DEFB110 p.Pro18Ser Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All DEFB110 variants
Uncertain significance 13
- p.Ala19Val Single submitter ⚠
- p.Arg32Lys Single submitter ⚠
- p.Arg52Lys Single submitter ⚠
- p.Asn49Ile Single submitter ⚠
- p.Glu34Gln Single submitter ⚠
- p.His11Pro Single submitter ⚠
- p.Leu5Ile Single submitter ⚠
- p.Lys21Asn Single submitter ⚠
- p.Phe12Tyr Single submitter ⚠
- p.Pro18Ser Single submitter ⚠
- p.Thr41Met Single submitter
- p.Tyr26Cys Single submitter ⚠
- p.Tyr26His Single submitter ⚠