OTUD7B — 126 ClinVar variants
All ClinVar germline OTUD7B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 114 flagged for review →
3 Benign · 4 Likely benign · 119 Uncertain significance
Full OTUD7B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 114
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 87
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- OTUD7B p.Ala278Thr Uncertain significance Single submitter
- OTUD7B p.Ala303Thr Uncertain significance Single submitter
- OTUD7B p.Ala361Ser Uncertain significance Single submitter
- OTUD7B p.Ala452Thr Uncertain significance Single submitter
- OTUD7B p.Arg148Cys Uncertain significance Single submitter
- OTUD7B p.Arg14His Uncertain significance Single submitter
- OTUD7B p.Arg459Trp Uncertain significance Single submitter
- OTUD7B p.Arg45His Uncertain significance Single submitter
- OTUD7B p.Arg484Gln Uncertain significance Single submitter
- OTUD7B p.Arg492Gln Uncertain significance Single submitter
- OTUD7B p.Arg630Cys Uncertain significance Single submitter
- OTUD7B p.Arg700Gly Uncertain significance Single submitter
- OTUD7B p.Arg700Trp Uncertain significance Single submitter
- OTUD7B p.Arg761Gly Uncertain significance Single submitter
- OTUD7B p.Arg77His Uncertain significance Single submitter
- OTUD7B p.Arg793Gln Uncertain significance Single submitter
- OTUD7B p.Arg793Trp Uncertain significance Single submitter
- OTUD7B p.Asn279Ser Uncertain significance Single submitter
- OTUD7B p.Asp139Val Uncertain significance Single submitter
- OTUD7B p.Asp439Glu Uncertain significance Single submitter
- OTUD7B p.Asp695Val Uncertain significance Single submitter
- OTUD7B p.Asp72Glu Uncertain significance Single submitter
- OTUD7B p.Asp87Gly Uncertain significance Single submitter
- OTUD7B p.Cys133Tyr Uncertain significance Single submitter
- OTUD7B p.Cys821Tyr Uncertain significance Single submitter
- OTUD7B p.Gln675Arg Uncertain significance Single submitter
- OTUD7B p.Gln84Pro Uncertain significance Single submitter
- OTUD7B p.Glu222Ala Uncertain significance Single submitter
- OTUD7B p.Glu222Asp Uncertain significance Single submitter
- OTUD7B p.Glu373Asp Uncertain significance Single submitter
- OTUD7B p.Glu480Lys Uncertain significance Single submitter
- OTUD7B p.Glu564Gly Uncertain significance Single submitter
- OTUD7B p.Glu606Val Uncertain significance Single submitter
- OTUD7B p.Glu647Ala Uncertain significance Single submitter
- OTUD7B p.Glu825Lys Uncertain significance Single submitter
- OTUD7B p.Gly529Asp Uncertain significance Single submitter
- OTUD7B p.Gly678Ser Uncertain significance Single submitter
- OTUD7B p.Gly69Glu Uncertain significance Single submitter
- OTUD7B p.Gly704Asp Uncertain significance Single submitter
- OTUD7B p.Gly705Val Uncertain significance Single submitter
- OTUD7B p.Gly718Cys Uncertain significance Single submitter
- OTUD7B p.Gly718Val Uncertain significance Single submitter
- OTUD7B p.Gly723Asp Uncertain significance Single submitter
- OTUD7B p.Gly723Val Uncertain significance Single submitter
- OTUD7B p.Gly778Val Uncertain significance Single submitter
- OTUD7B p.Gly787Arg Uncertain significance Single submitter
- OTUD7B p.Gly794Ser Uncertain significance Single submitter
- OTUD7B p.His113Arg Uncertain significance Single submitter
- OTUD7B p.His304Leu Uncertain significance Single submitter
- OTUD7B p.His48Arg Uncertain significance Single submitter
- OTUD7B p.His742Asp Uncertain significance Single submitter
- OTUD7B p.His754Asp Uncertain significance Single submitter
- OTUD7B p.Ile132Thr Uncertain significance Single submitter
- OTUD7B p.Ile151Thr Uncertain significance Single submitter
- OTUD7B p.Ile310Thr Uncertain significance Single submitter
- OTUD7B p.Ile698Val Uncertain significance Single submitter
- OTUD7B p.Leu38Phe Uncertain significance Single submitter
- OTUD7B p.Leu839Val Uncertain significance Single submitter
- OTUD7B p.Lys231Arg Uncertain significance Single submitter
- OTUD7B p.Lys587Glu Uncertain significance Single submitter
- OTUD7B p.Met160Val Uncertain significance Single submitter
- OTUD7B p.Met221Thr Uncertain significance Single submitter
- OTUD7B p.Phe688Leu Uncertain significance Single submitter
- OTUD7B p.Pro269Thr Uncertain significance Single submitter
- OTUD7B p.Pro447Ala Uncertain significance Single submitter
- OTUD7B p.Pro532Arg Uncertain significance Single submitter
- OTUD7B p.Pro54Leu Uncertain significance Single submitter
- OTUD7B p.Pro663Ser Uncertain significance Single submitter
- OTUD7B p.Pro669Ser Uncertain significance Single submitter
- OTUD7B p.Pro66Arg Uncertain significance Single submitter
- OTUD7B p.Pro676Arg Uncertain significance Single submitter
- OTUD7B p.Pro693Arg Uncertain significance Single submitter
- OTUD7B p.Pro751Arg Uncertain significance Single submitter
- OTUD7B p.Pro767Arg Uncertain significance Single submitter
- OTUD7B p.Pro767Thr Uncertain significance Single submitter
- OTUD7B p.Pro768Ala Uncertain significance Single submitter
- OTUD7B p.Pro78Ser Uncertain significance Single submitter
- OTUD7B p.Pro797Arg Uncertain significance Single submitter
- OTUD7B p.Pro834Leu Uncertain significance Single submitter
- OTUD7B p.Ser689Cys Uncertain significance Single submitter
- OTUD7B p.Ser808Arg Uncertain significance Single submitter
- OTUD7B p.Thr141Ala Uncertain significance Single submitter
- OTUD7B p.Thr380Ala Uncertain significance Single submitter
- OTUD7B p.Thr537Ile Uncertain significance Single submitter
- OTUD7B p.Thr677Ile Uncertain significance Single submitter
- OTUD7B p.Tyr384Cys Uncertain significance Single submitter
- OTUD7B p.Val721Phe Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- OTUD7B p.Ala342Val Uncertain significance Single submitter
- OTUD7B p.Arg111Gln Uncertain significance Single submitter
- OTUD7B p.Arg169His Uncertain significance Single submitter
- OTUD7B p.Arg347Cys Uncertain significance Single submitter
- OTUD7B p.Arg94His Uncertain significance Single submitter
- OTUD7B p.Asp11His Uncertain significance Single submitter
- OTUD7B p.Asp210Gly Uncertain significance Single submitter
- OTUD7B p.Asp25Glu Uncertain significance Single submitter
- OTUD7B p.Asp394Glu Uncertain significance Single submitter
- OTUD7B p.Asp495His Uncertain significance Single submitter
- OTUD7B p.Glu152Gln Uncertain significance Single submitter
- OTUD7B p.Glu625Gly Uncertain significance Single submitter
- OTUD7B p.Gly322Arg Uncertain significance Single submitter
- OTUD7B p.Gly522Glu Uncertain significance Single submitter
- OTUD7B p.His426Leu Uncertain significance Single submitter
- OTUD7B p.Ile334Leu Uncertain significance Single submitter
- OTUD7B p.Ile99Val Uncertain significance Single submitter
- OTUD7B p.Lys385Glu Uncertain significance Single submitter
- OTUD7B p.Lys505Thr Uncertain significance Single submitter
- OTUD7B p.Lys528Asn Uncertain significance Single submitter
- OTUD7B p.Met429Thr Uncertain significance Single submitter
- OTUD7B p.Met521Ile Uncertain significance Single submitter
- OTUD7B p.Phe326Leu Uncertain significance Single submitter
- OTUD7B p.Pro289Ala Uncertain significance Single submitter
- OTUD7B p.Ser159Cys Uncertain significance Single submitter
- OTUD7B p.Ser39Arg Uncertain significance Single submitter
- OTUD7B p.Thr189Ala Uncertain significance Single submitter
All OTUD7B variants
Likely benign 4
- p.Arg684Lys Single submitter
- p.Asp495Glu Single submitter
- p.Pro435= Single submitter
- p.Val90Ile Single submitter
Uncertain significance 119
- p.Ala278Thr Single submitter ⚠
- p.Ala303Thr Single submitter ⚠
- p.Ala342Val Single submitter ⚠
- p.Ala361Ser Single submitter ⚠
- p.Ala452Thr Single submitter ⚠
- p.Arg111Gln Single submitter ⚠
- p.Arg148Cys Single submitter ⚠
- p.Arg14His Single submitter ⚠
- p.Arg169His Single submitter ⚠
- p.Arg347Cys Single submitter ⚠
- p.Arg459Trp Single submitter ⚠
- p.Arg45His Single submitter ⚠
- p.Arg484Gln Single submitter ⚠
- p.Arg492Gln Single submitter ⚠
- p.Arg620Cys Single submitter
- p.Arg620His Single submitter
- p.Arg630Cys Single submitter ⚠
- p.Arg700Gly Single submitter ⚠
- p.Arg700Trp Single submitter ⚠
- p.Arg761Gly Single submitter ⚠
- p.Arg77His Single submitter ⚠
- p.Arg793Gln Single submitter ⚠
- p.Arg793Trp Single submitter ⚠
- p.Arg94His Single submitter ⚠
- p.Asn279Ser Single submitter ⚠
- p.Asp11His Single submitter ⚠
- p.Asp139Val Single submitter ⚠
- p.Asp210Gly Single submitter ⚠
- p.Asp25Glu Single submitter ⚠
- p.Asp394Glu Single submitter ⚠
- p.Asp439Glu Single submitter ⚠
- p.Asp495His Single submitter ⚠
- p.Asp695Val Single submitter ⚠
- p.Asp72Glu Single submitter ⚠
- p.Asp87Gly Single submitter ⚠
- p.Cys133Tyr Single submitter ⚠
- p.Cys821Tyr Single submitter ⚠
- p.Gln675Arg Single submitter ⚠
- p.Gln84Pro Single submitter ⚠
- p.Glu152Gln Single submitter ⚠
- p.Glu222Ala Single submitter ⚠
- p.Glu222Asp Single submitter ⚠
- p.Glu373Asp Single submitter ⚠
- p.Glu480Lys Single submitter ⚠
- p.Glu564Gly Single submitter ⚠
- p.Glu606Val Single submitter ⚠
- p.Glu625Gly Single submitter ⚠
- p.Glu647Ala Single submitter ⚠
- p.Glu825Lys Single submitter ⚠
- p.Gly322Arg Single submitter ⚠
- p.Gly522Glu Single submitter ⚠
- p.Gly529Asp Single submitter ⚠
- p.Gly605Arg Single submitter
- p.Gly678Ser Single submitter ⚠
- p.Gly69Glu Single submitter ⚠
- p.Gly704Asp Single submitter ⚠
- p.Gly705Val Single submitter ⚠
- p.Gly718Cys Single submitter ⚠
- p.Gly718Val Single submitter ⚠
- p.Gly723Asp Single submitter ⚠
- p.Gly723Val Single submitter ⚠
- p.Gly778Val Single submitter ⚠
- p.Gly787Arg Single submitter ⚠
- p.Gly794Ser Single submitter ⚠
- p.His113Arg Single submitter ⚠
- p.His304Leu Single submitter ⚠
- p.His426Arg Single submitter
- p.His426Leu Single submitter ⚠
- p.His48Arg Single submitter ⚠
- p.His742Asp Single submitter ⚠
- p.His754Asp Single submitter ⚠
- p.Ile132Thr Single submitter ⚠
- p.Ile151Thr Single submitter ⚠
- p.Ile310Thr Single submitter ⚠
- p.Ile334Leu Single submitter ⚠
- p.Ile698Val Single submitter ⚠
- p.Ile99Val Single submitter ⚠
- p.Leu38Phe Single submitter ⚠
- p.Leu839Val Single submitter ⚠
- p.Lys231Arg Single submitter ⚠
- p.Lys385Glu Single submitter ⚠
- p.Lys505Thr Single submitter ⚠
- p.Lys528Asn Single submitter ⚠
- p.Lys587Glu Single submitter ⚠
- p.Met160Val Single submitter ⚠
- p.Met221Thr Single submitter ⚠
- p.Met429Thr Single submitter ⚠
- p.Met429Val Single submitter
- p.Met521Ile Single submitter ⚠
- p.Phe326Leu Single submitter ⚠
- p.Phe688Leu Single submitter ⚠
- p.Pro269Thr Single submitter ⚠
- p.Pro289Ala Single submitter ⚠
- p.Pro447Ala Single submitter ⚠
- p.Pro532Arg Single submitter ⚠
- p.Pro54Leu Single submitter ⚠
- p.Pro663Ser Single submitter ⚠
- p.Pro669Ser Single submitter ⚠
- p.Pro66Arg Single submitter ⚠
- p.Pro676Arg Single submitter ⚠
- p.Pro693Arg Single submitter ⚠
- p.Pro751Arg Single submitter ⚠
- p.Pro767Arg Single submitter ⚠
- p.Pro767Thr Single submitter ⚠
- p.Pro768Ala Single submitter ⚠
- p.Pro78Ser Single submitter ⚠
- p.Pro797Arg Single submitter ⚠
- p.Pro834Leu Single submitter ⚠
- p.Ser159Cys Single submitter ⚠
- p.Ser39Arg Single submitter ⚠
- p.Ser689Cys Single submitter ⚠
- p.Ser808Arg Single submitter ⚠
- p.Thr141Ala Single submitter ⚠
- p.Thr189Ala Single submitter ⚠
- p.Thr380Ala Single submitter ⚠
- p.Thr537Ile Single submitter ⚠
- p.Thr677Ile Single submitter ⚠
- p.Tyr384Cys Single submitter ⚠
- p.Val721Phe Single submitter ⚠