DEFB125 — 25 ClinVar variants
All ClinVar germline DEFB125 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
4 Likely benign · 21 Uncertain significance
Full DEFB125 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEFB125 p.Arg66Gln Uncertain significance Single submitter
- DEFB125 p.Cys39Tyr Uncertain significance Single submitter
- DEFB125 p.Ile3Val Uncertain significance Single submitter
- DEFB125 p.Ile46Val Uncertain significance Single submitter
- DEFB125 p.Ile78Val Uncertain significance Single submitter
- DEFB125 p.Leu153Pro Uncertain significance Single submitter
- DEFB125 p.Lys26Thr Uncertain significance Single submitter
- DEFB125 p.Met5Leu Uncertain significance Single submitter
- DEFB125 p.Met95Leu Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- DEFB125 p.Arg44Lys Uncertain significance Single submitter
- DEFB125 p.Arg50Gly Uncertain significance Single submitter
- DEFB125 p.Arg50Met Likely benign Single submitter
- DEFB125 p.Glu131Lys Likely benign Single submitter
- DEFB125 p.Glu143Gly Uncertain significance Single submitter
- DEFB125 p.Glu143Lys Likely benign Single submitter
- DEFB125 p.Pro118Ser Uncertain significance Single submitter
- DEFB125 p.Thr104Ile Uncertain significance Single submitter
- DEFB125 p.Thr105Ile Uncertain significance Single submitter
- DEFB125 p.Thr110Asn Uncertain significance Single submitter
- DEFB125 p.Thr110Ser Uncertain significance Single submitter
- DEFB125 p.Thr120Ala Uncertain significance Single submitter
- DEFB125 p.Thr65Ala Uncertain significance Single submitter
- DEFB125 p.Trp28Leu Uncertain significance Single submitter
- DEFB125 p.Tyr64Cys Uncertain significance Single submitter
All DEFB125 variants
Likely benign 4
- p.Arg16Gln Single submitter
- p.Arg50Met Single submitter ⚠
- p.Glu131Lys Single submitter ⚠
- p.Glu143Lys Single submitter ⚠
Uncertain significance 21
- p.Arg44Lys Single submitter ⚠
- p.Arg50Gly Single submitter ⚠
- p.Arg66Gln Single submitter ⚠
- p.Cys39Tyr Single submitter ⚠
- p.Glu143Gly Single submitter ⚠
- p.Ile3Val Single submitter ⚠
- p.Ile46Val Single submitter ⚠
- p.Ile78Val Single submitter ⚠
- p.Leu153Pro Single submitter ⚠
- p.Lys26Thr Single submitter ⚠
- p.Met5Leu Single submitter ⚠
- p.Met95Leu Single submitter ⚠
- p.Pro118Ser Single submitter ⚠
- p.Thr104Ile Single submitter ⚠
- p.Thr105Ile Single submitter ⚠
- p.Thr110Asn Single submitter ⚠
- p.Thr110Ser Single submitter ⚠
- p.Thr120Ala Single submitter ⚠
- p.Thr65Ala Single submitter ⚠
- p.Trp28Leu Single submitter ⚠
- p.Tyr64Cys Single submitter ⚠