DEF8 — 92 ClinVar variants
All ClinVar germline DEF8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
4 Benign · 8 Likely benign · 80 Uncertain significance
Full DEF8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 81
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 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEF8 c.-11+101C>T Uncertain significance Single submitter
- DEF8 c.-11+104C>T Uncertain significance Single submitter
- DEF8 c.-11+10G>T Uncertain significance Single submitter
- DEF8 c.-11+113C>A Uncertain significance Single submitter
- DEF8 c.-11+118G>A Uncertain significance Single submitter
- DEF8 c.-11+22T>G Uncertain significance Single submitter
- DEF8 c.-11+4T>C Uncertain significance Single submitter
- DEF8 c.-11+51G>C Uncertain significance Single submitter
- DEF8 c.-11+78G>A Uncertain significance Single submitter
- DEF8 c.-36C>A Uncertain significance Single submitter
- DEF8 c.-39G>C Uncertain significance Single submitter
- DEF8 p.Ala222Val Uncertain significance Single submitter
- DEF8 p.Arg117Trp Uncertain significance Single submitter
- DEF8 p.Arg272His Uncertain significance Single submitter
- DEF8 p.Arg276His Uncertain significance Single submitter
- DEF8 p.Arg288Ser Uncertain significance Single submitter
- DEF8 p.Arg290Gln Uncertain significance Single submitter
- DEF8 p.Arg72His Uncertain significance Single submitter
- DEF8 p.Asn127Ile Uncertain significance Single submitter
- DEF8 p.Asn127Ser Uncertain significance Single submitter
- DEF8 p.Asp125Glu Uncertain significance Single submitter
- DEF8 p.Asp411Glu Uncertain significance Single submitter
- DEF8 p.Cys383Tyr Uncertain significance Single submitter
- DEF8 p.Gln334Lys Uncertain significance Single submitter
- DEF8 p.Glu58Val Uncertain significance Single submitter
- DEF8 p.Glu98Asp Uncertain significance Single submitter
- DEF8 p.Gly30Ser Uncertain significance Single submitter
- DEF8 p.Gly32Arg Uncertain significance Single submitter
- DEF8 p.Gly387Ala Uncertain significance Single submitter
- DEF8 p.Gly446Ser Uncertain significance Single submitter
- DEF8 p.Gly64Ser Uncertain significance Single submitter
- DEF8 p.Leu315Phe Uncertain significance Single submitter
- DEF8 p.Leu354Pro Uncertain significance Single submitter
- DEF8 p.Lys124Gln Uncertain significance Single submitter
- DEF8 p.Lys193Arg Uncertain significance Single submitter
- DEF8 p.Phe388Ile Uncertain significance Single submitter
- DEF8 p.Phe442Leu Uncertain significance Single submitter
- DEF8 p.Pro24Leu Uncertain significance Single submitter
- DEF8 p.Pro401Leu Uncertain significance Single submitter
- DEF8 p.Pro52Leu Uncertain significance Single submitter
- DEF8 p.Ser440Leu Uncertain significance Single submitter
- DEF8 p.Thr39Asn Uncertain significance Single submitter
- DEF8 p.Trp249Cys Uncertain significance Single submitter
- DEF8 p.Val149Ile Uncertain significance Single submitter
- DEF8 p.Val259Ile Uncertain significance Single submitter
- DEF8 p.Val286Ile Uncertain significance Single submitter
- DEF8 p.Val449Met Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
- DEF8 p.Val356Met Likely benign Multiple submitters
- DEF8 c.-11+113C>T Uncertain significance Single submitter
- DEF8 p.Ala279Val Uncertain significance Single submitter
- DEF8 p.Ala410Val Uncertain significance Single submitter
- DEF8 p.Ala414Thr Uncertain significance Single submitter
- DEF8 p.Arg11Trp Uncertain significance Single submitter
- DEF8 p.Arg134Gln Uncertain significance Single submitter
- DEF8 p.Arg140His Uncertain significance Single submitter
- DEF8 p.Arg176His Uncertain significance Single submitter
- DEF8 p.Arg216Cys Uncertain significance Single submitter
- DEF8 p.Arg338Trp Uncertain significance Single submitter
- DEF8 p.Arg360Cys Uncertain significance Single submitter
- DEF8 p.Arg360His Uncertain significance Single submitter
- DEF8 p.Arg59Cys Uncertain significance Single submitter
- DEF8 p.Arg9Cys Uncertain significance Single submitter
- DEF8 p.Asp403Asn Uncertain significance Single submitter
- DEF8 p.Asp411Asn Uncertain significance Single submitter
- DEF8 p.Asp411Val Uncertain significance Single submitter
- DEF8 p.Asp62Asn Uncertain significance Single submitter
- DEF8 p.Glu101Gln Uncertain significance Single submitter
- DEF8 p.Glu101Lys Uncertain significance Single submitter
- DEF8 p.Glu201Lys Uncertain significance Single submitter
- DEF8 p.Glu325Lys Uncertain significance Single submitter
- DEF8 p.Glu90Lys Uncertain significance Single submitter
- DEF8 p.Gly359Ser Uncertain significance Single submitter
- DEF8 p.His115Tyr Uncertain significance Single submitter
- DEF8 p.Leu163Phe Uncertain significance Single submitter
- DEF8 p.Leu309Val Uncertain significance Single submitter
- DEF8 p.Lys145Thr Uncertain significance Single submitter
- DEF8 p.Pro223Leu Uncertain significance Single submitter
- DEF8 p.Thr169Ser Uncertain significance Single submitter
- DEF8 p.Thr171Arg Uncertain significance Single submitter
- DEF8 p.Tyr422Cys Uncertain significance Single submitter
- DEF8 p.Val389Met Uncertain significance Single submitter
All DEF8 variants
Benign 4
- p.Gln29Glu Multiple submitters
- p.Glu122= Multiple submitters
- p.Pro318= Multiple submitters
- c.-26C>T Single submitter
Likely benign 8
- p.Val356Met Multiple submitters ⚠
- c.-54C>T Single submitter
- p.Arg55His Single submitter
- p.Arg86Gln Single submitter
- p.Pro36Leu Single submitter
- p.Pro40Ser Single submitter
- p.Val38Ile Single submitter
- p.Val82Ile Single submitter
Uncertain significance 80
- c.-11+101C>T Single submitter ⚠
- c.-11+104C>T Single submitter ⚠
- c.-11+10G>T Single submitter ⚠
- c.-11+113C>A Single submitter ⚠
- c.-11+113C>T Single submitter ⚠
- c.-11+118G>A Single submitter ⚠
- c.-11+22T>G Single submitter ⚠
- c.-11+4T>C Single submitter ⚠
- c.-11+51G>C Single submitter ⚠
- c.-11+78G>A Single submitter ⚠
- c.-36C>A Single submitter ⚠
- c.-39G>C Single submitter ⚠
- p.Ala222Val Single submitter ⚠
- p.Ala279Val Single submitter ⚠
- p.Ala410Val Single submitter ⚠
- p.Ala414Thr Single submitter ⚠
- p.Arg117Trp Single submitter ⚠
- p.Arg11Trp Single submitter ⚠
- p.Arg134Gln Single submitter ⚠
- p.Arg140His Single submitter ⚠
- p.Arg176His Single submitter ⚠
- p.Arg216Cys Single submitter ⚠
- p.Arg272His Single submitter ⚠
- p.Arg276His Single submitter ⚠
- p.Arg288Ser Single submitter ⚠
- p.Arg290Gln Single submitter ⚠
- p.Arg338Trp Single submitter ⚠
- p.Arg360Cys Single submitter ⚠
- p.Arg360His Single submitter ⚠
- p.Arg59Cys Single submitter ⚠
- p.Arg72His Single submitter ⚠
- p.Arg9Cys Single submitter ⚠
- p.Asn127Ile Single submitter ⚠
- p.Asn127Ser Single submitter ⚠
- p.Asp125Glu Single submitter ⚠
- p.Asp403Asn Single submitter ⚠
- p.Asp411Asn Single submitter ⚠
- p.Asp411Glu Single submitter ⚠
- p.Asp411Val Single submitter ⚠
- p.Asp62Asn Single submitter ⚠
- p.Cys383Tyr Single submitter ⚠
- p.Gln334Lys Single submitter ⚠
- p.Glu101Gln Single submitter ⚠
- p.Glu101Lys Single submitter ⚠
- p.Glu201Lys Single submitter ⚠
- p.Glu325Lys Single submitter ⚠
- p.Glu58Val Single submitter ⚠
- p.Glu90Lys Single submitter ⚠
- p.Glu98Asp Single submitter ⚠
- p.Gly30Ser Single submitter ⚠
- p.Gly32Arg Single submitter ⚠
- p.Gly359Ser Single submitter ⚠
- p.Gly387Ala Single submitter ⚠
- p.Gly446Ser Single submitter ⚠
- p.Gly64Ser Single submitter ⚠
- p.His115Tyr Single submitter ⚠
- p.Leu163Phe Single submitter ⚠
- p.Leu309Val Single submitter ⚠
- p.Leu315Phe Single submitter ⚠
- p.Leu354Pro Single submitter ⚠
- p.Lys124Gln Single submitter ⚠
- p.Lys145Thr Single submitter ⚠
- p.Lys193Arg Single submitter ⚠
- p.Phe388Ile Single submitter ⚠
- p.Phe442Leu Single submitter ⚠
- p.Pro223Leu Single submitter ⚠
- p.Pro24Leu Single submitter ⚠
- p.Pro401Leu Single submitter ⚠
- p.Pro52Leu Single submitter ⚠
- p.Ser440Leu Single submitter ⚠
- p.Thr169Ser Single submitter ⚠
- p.Thr171Arg Single submitter ⚠
- p.Thr39Asn Single submitter ⚠
- p.Trp249Cys Single submitter ⚠
- p.Tyr422Cys Single submitter ⚠
- p.Val149Ile Single submitter ⚠
- p.Val259Ile Single submitter ⚠
- p.Val286Ile Single submitter ⚠
- p.Val389Met Single submitter ⚠
- p.Val449Met Single submitter ⚠