DEFB135 — 29 ClinVar variants
All ClinVar germline DEFB135 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
1 Likely benign · 28 Uncertain significance
Full DEFB135 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEFB135 p.Arg45Gln Uncertain significance Single submitter
- DEFB135 p.Arg4Gly Uncertain significance Single submitter
- DEFB135 p.Arg55Cys Uncertain significance Single submitter
- DEFB135 p.Asn27Ser Uncertain significance Single submitter
- DEFB135 p.Cys58Trp Uncertain significance Single submitter
- DEFB135 p.Cys65Arg Uncertain significance Single submitter
- DEFB135 p.Gly22Ala Uncertain significance Single submitter
- DEFB135 p.Gly76Ala Uncertain significance Single submitter
- DEFB135 p.Ile56Val Uncertain significance Single submitter
- DEFB135 p.Leu13Phe Uncertain significance Single submitter
- DEFB135 p.Leu8Phe Uncertain significance Single submitter
- DEFB135 p.Pro20Leu Uncertain significance Single submitter
- DEFB135 p.Pro20Ser Uncertain significance Single submitter
- DEFB135 p.Pro20Thr Uncertain significance Single submitter
- DEFB135 p.Pro21Ser Uncertain significance Single submitter
- DEFB135 p.Ser5Arg Uncertain significance Single submitter
- DEFB135 p.Thr60Ser Uncertain significance Single submitter
- DEFB135 p.Val11Ala Uncertain significance Single submitter
- DEFB135 p.Val11Met Uncertain significance Single submitter
- DEFB135 p.Val12Ile Uncertain significance Single submitter
- DEFB135 p.Val12Phe Uncertain significance Single submitter
- DEFB135 p.Val19Gly Uncertain significance Single submitter
- DEFB135 p.Val6Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All DEFB135 variants
Likely benign 1
- p.Ile61Thr Single submitter
Uncertain significance 28
- p.Arg45Gln Single submitter ⚠
- p.Arg45Trp Single submitter ⚠
- p.Arg4Gly Single submitter ⚠
- p.Arg55Cys Single submitter ⚠
- p.Asn27Ser Single submitter ⚠
- p.Asp59Val Single submitter ⚠
- p.Cys58Trp Single submitter ⚠
- p.Cys65Arg Single submitter ⚠
- p.Gly22Ala Single submitter ⚠
- p.Gly22Asp Single submitter ⚠
- p.Gly76Ala Single submitter ⚠
- p.Ile56Val Single submitter ⚠
- p.Leu13Phe Single submitter ⚠
- p.Leu16Pro Single submitter ⚠
- p.Leu8Phe Single submitter ⚠
- p.Pro20Leu Single submitter ⚠
- p.Pro20Ser Single submitter ⚠
- p.Pro20Thr Single submitter ⚠
- p.Pro21Ser Single submitter ⚠
- p.Ser5Arg Single submitter ⚠
- p.Thr60Ser Single submitter ⚠
- p.Val11Ala Single submitter ⚠
- p.Val11Met Single submitter ⚠
- p.Val12Asp Single submitter ⚠
- p.Val12Ile Single submitter ⚠
- p.Val12Phe Single submitter ⚠
- p.Val19Gly Single submitter ⚠
- p.Val6Ile Single submitter ⚠