DEFB136 — 21 ClinVar variants
All ClinVar germline DEFB136 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
21 Uncertain significance
Full DEFB136 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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEFB136 p.Arg66His Uncertain significance Single submitter
- DEFB136 p.Asp26His Uncertain significance Single submitter
- DEFB136 p.Asp74Val Uncertain significance Single submitter
- DEFB136 p.Gln71Glu Uncertain significance Single submitter
- DEFB136 p.Gly21Cys Uncertain significance Single submitter
- DEFB136 p.His78Leu Uncertain significance Single submitter
- DEFB136 p.Ile14Val Uncertain significance Single submitter
- DEFB136 p.Leu15Phe Uncertain significance Single submitter
- DEFB136 p.Leu8Phe Uncertain significance Single submitter
- DEFB136 p.Leu9Val Uncertain significance Single submitter
- DEFB136 p.Lys62Glu Uncertain significance Single submitter
- DEFB136 p.Lys73Glu Uncertain significance Single submitter
- DEFB136 p.Met22Val Uncertain significance Single submitter
- DEFB136 p.Met64Arg Uncertain significance Single submitter
- DEFB136 p.Pro70Arg Uncertain significance Single submitter
- DEFB136 p.Ser35Ile Uncertain significance Single submitter
- DEFB136 p.Thr32Asn Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All DEFB136 variants
Uncertain significance 21
- p.Ala38Pro Single submitter ⚠
- p.Ala7Pro Single submitter ⚠
- p.Arg66His Single submitter ⚠
- p.Asp26His Single submitter ⚠
- p.Asp74Val Single submitter ⚠
- p.Gln71Glu Single submitter ⚠
- p.Gly21Cys Single submitter ⚠
- p.Gly43Arg Single submitter ⚠
- p.His78Leu Single submitter ⚠
- p.Ile14Val Single submitter ⚠
- p.Leu15Phe Single submitter ⚠
- p.Leu8Phe Single submitter ⚠
- p.Leu9Val Single submitter ⚠
- p.Lys62Glu Single submitter ⚠
- p.Lys73Glu Single submitter ⚠
- p.Met22Val Single submitter ⚠
- p.Met64Arg Single submitter ⚠
- p.Pro69Arg Single submitter ⚠
- p.Pro70Arg Single submitter ⚠
- p.Ser35Ile Single submitter ⚠
- p.Thr32Asn Single submitter ⚠