DFFB — 49 ClinVar variants
All ClinVar germline DFFB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
3 Likely benign · 46 Uncertain significance
Full DFFB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DFFB p.Ala103Thr Uncertain significance Single submitter
- DFFB p.Ala12Gly Uncertain significance Single submitter
- DFFB p.Ala131Val Uncertain significance Single submitter
- DFFB p.Ala132Pro Uncertain significance Single submitter
- DFFB p.Arg115Lys Uncertain significance Single submitter
- DFFB p.Arg165Gln Uncertain significance Single submitter
- DFFB p.Arg169Lys Uncertain significance Single submitter
- DFFB p.Arg327Lys Uncertain significance Single submitter
- DFFB p.Arg87Cys Uncertain significance Single submitter
- DFFB p.Arg87His Uncertain significance Single submitter
- DFFB p.Asp109Gly Uncertain significance Single submitter
- DFFB p.Asp138Glu Uncertain significance Single submitter
- DFFB p.Gln183Glu Uncertain significance Single submitter
- DFFB p.Gln201Arg Uncertain significance Single submitter
- DFFB p.Gln79Arg Uncertain significance Single submitter
- DFFB p.His124Arg Uncertain significance Single submitter
- DFFB p.His307Arg Uncertain significance Single submitter
- DFFB p.Leu252Phe Uncertain significance Single submitter
- DFFB p.Lys32Asn Uncertain significance Single submitter
- DFFB p.Met232Arg Uncertain significance Single submitter
- DFFB p.Phe60Cys Uncertain significance Single submitter
- DFFB p.Pro140Leu Uncertain significance Single submitter
- DFFB p.Pro175Thr Uncertain significance Single submitter
- DFFB p.Ser319Gly Uncertain significance Single submitter
- DFFB p.Thr177Ala Uncertain significance Single submitter
- DFFB p.Thr311Ser Uncertain significance Single submitter
- DFFB p.Tyr244Cys Uncertain significance Single submitter
- DFFB p.Val82Glu Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- DFFB p.Ala211Thr Uncertain significance Single submitter
- DFFB p.Arg196Gly Uncertain significance Single submitter
- DFFB p.Arg282Lys Uncertain significance Single submitter
- DFFB p.Arg337Cys Uncertain significance Single submitter
- DFFB p.Arg337His Uncertain significance Single submitter
- DFFB p.Glu50Gly Uncertain significance Single submitter
- DFFB p.Gly213Val Uncertain significance Single submitter
- DFFB p.Gly43Ser Uncertain significance Single submitter
- DFFB p.Ile276Val Likely benign Single submitter
- DFFB p.Ile321Thr Uncertain significance Single submitter
- DFFB p.Leu272Val Uncertain significance Single submitter
- DFFB p.Leu39Arg Uncertain significance Single submitter
- DFFB p.Lys18Asn Uncertain significance Single submitter
- DFFB p.Met232Ile Uncertain significance Single submitter
- DFFB p.Pro113Ser Uncertain significance Single submitter
- DFFB p.Pro61Ser Uncertain significance Single submitter
- DFFB p.Pro64Ser Uncertain significance Single submitter
- DFFB p.Ser245Gly Likely benign Single submitter
- DFFB p.Thr177Met Uncertain significance Single submitter
- DFFB p.Thr311Ile Likely benign Single submitter
- DFFB p.Thr56Met Uncertain significance Single submitter
All DFFB variants
Likely benign 3
- p.Ile276Val Single submitter ⚠
- p.Ser245Gly Single submitter ⚠
- p.Thr311Ile Single submitter ⚠
Uncertain significance 46
- p.Ala103Thr Single submitter ⚠
- p.Ala12Gly Single submitter ⚠
- p.Ala131Val Single submitter ⚠
- p.Ala132Pro Single submitter ⚠
- p.Ala211Thr Single submitter ⚠
- p.Arg115Lys Single submitter ⚠
- p.Arg165Gln Single submitter ⚠
- p.Arg169Lys Single submitter ⚠
- p.Arg196Gly Single submitter ⚠
- p.Arg282Lys Single submitter ⚠
- p.Arg327Lys Single submitter ⚠
- p.Arg337Cys Single submitter ⚠
- p.Arg337His Single submitter ⚠
- p.Arg87Cys Single submitter ⚠
- p.Arg87His Single submitter ⚠
- p.Asp109Gly Single submitter ⚠
- p.Asp138Glu Single submitter ⚠
- p.Gln183Glu Single submitter ⚠
- p.Gln201Arg Single submitter ⚠
- p.Gln79Arg Single submitter ⚠
- p.Glu50Gly Single submitter ⚠
- p.Gly213Val Single submitter ⚠
- p.Gly43Ser Single submitter ⚠
- p.His124Arg Single submitter ⚠
- p.His307Arg Single submitter ⚠
- p.Ile321Thr Single submitter ⚠
- p.Leu252Phe Single submitter ⚠
- p.Leu272Val Single submitter ⚠
- p.Leu39Arg Single submitter ⚠
- p.Lys18Asn Single submitter ⚠
- p.Lys32Asn Single submitter ⚠
- p.Met232Arg Single submitter ⚠
- p.Met232Ile Single submitter ⚠
- p.Phe60Cys Single submitter ⚠
- p.Pro113Ser Single submitter ⚠
- p.Pro140Leu Single submitter ⚠
- p.Pro175Thr Single submitter ⚠
- p.Pro61Ser Single submitter ⚠
- p.Pro64Ser Single submitter ⚠
- p.Ser319Gly Single submitter ⚠
- p.Thr177Ala Single submitter ⚠
- p.Thr177Met Single submitter ⚠
- p.Thr311Ser Single submitter ⚠
- p.Thr56Met Single submitter ⚠
- p.Tyr244Cys Single submitter ⚠
- p.Val82Glu Single submitter ⚠