UBE3C — 131 ClinVar variants
All ClinVar germline UBE3C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 100 flagged for review →
1 Pathogenic/Likely pathogenic · 3 Benign · 18 Likely benign · 109 Uncertain significance
Full UBE3C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 100
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 82
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- UBE3C p.Ala1032Ser Uncertain significance Single submitter
- UBE3C p.Ala286Val Uncertain significance Single submitter
- UBE3C p.Ala365Ser Uncertain significance Single submitter
- UBE3C p.Ala806Val Uncertain significance Single submitter
- UBE3C p.Ala897Val Uncertain significance Single submitter
- UBE3C p.Ala918Gly Uncertain significance Single submitter
- UBE3C p.Arg113Cys Uncertain significance Single submitter
- UBE3C p.Arg230Gln Uncertain significance Single submitter
- UBE3C p.Arg307Gly Uncertain significance Single submitter
- UBE3C p.Arg454Thr Uncertain significance Single submitter
- UBE3C p.Arg469Gln Uncertain significance Single submitter
- UBE3C p.Arg495Gly Uncertain significance Single submitter
- UBE3C p.Arg547Gly Uncertain significance Single submitter
- UBE3C p.Arg654Gln Uncertain significance Single submitter
- UBE3C p.Arg704Lys Uncertain significance Single submitter
- UBE3C p.Arg753Cys Uncertain significance Single submitter
- UBE3C p.Arg933His Uncertain significance Single submitter
- UBE3C p.Arg953Gln Uncertain significance Single submitter
- UBE3C p.Asn205Ser Uncertain significance Single submitter
- UBE3C p.Asn299Ser Uncertain significance Single submitter
- UBE3C p.Asn328Tyr Uncertain significance Single submitter
- UBE3C p.Asn410Thr Uncertain significance Single submitter
- UBE3C p.Asn607Ser Uncertain significance Single submitter
- UBE3C p.Asn724Ile Uncertain significance Single submitter
- UBE3C p.Asn786Asp Uncertain significance Single submitter
- UBE3C p.Asn892Ser Uncertain significance Single submitter
- UBE3C p.Asp363Asn Uncertain significance Single submitter
- UBE3C p.Asp522Gly Uncertain significance Single submitter
- UBE3C p.Asp522Tyr Uncertain significance Single submitter
- UBE3C p.Asp721Gly Uncertain significance Single submitter
- UBE3C p.Asp735Gly Uncertain significance Single submitter
- UBE3C p.Asp879Asn Uncertain significance Single submitter
- UBE3C p.Cys158Tyr Uncertain significance Single submitter
- UBE3C p.Cys308Gly Uncertain significance Single submitter
- UBE3C p.Gln69Glu Uncertain significance Single submitter
- UBE3C p.Glu1006Asp Uncertain significance Single submitter
- UBE3C p.Glu305Gln Uncertain significance Single submitter
- UBE3C p.Glu382Asp Uncertain significance Single submitter
- UBE3C p.Gly1002Glu Uncertain significance Single submitter
- UBE3C p.Gly84Ser Uncertain significance Single submitter
- UBE3C p.His246Leu Uncertain significance Single submitter
- UBE3C p.His649Arg Uncertain significance Single submitter
- UBE3C p.Ile144Met Uncertain significance Single submitter
- UBE3C p.Ile233Leu Uncertain significance Single submitter
- UBE3C p.Ile233Val Uncertain significance Single submitter
- UBE3C p.Ile281Ser Uncertain significance Single submitter
- UBE3C p.Ile304Thr Uncertain significance Single submitter
- UBE3C p.Ile50Val Uncertain significance Single submitter
- UBE3C p.Ile524Val Uncertain significance Single submitter
- UBE3C p.Ile68Val Uncertain significance Single submitter
- UBE3C p.Ile88Val Uncertain significance Single submitter
- UBE3C p.Ile993Val Uncertain significance Single submitter
- UBE3C p.Leu1071Ile Uncertain significance Single submitter
- UBE3C p.Leu117Val Uncertain significance Single submitter
- UBE3C p.Leu199Phe Uncertain significance Single submitter
- UBE3C p.Leu386Pro Uncertain significance Single submitter
- UBE3C p.Leu757Val Uncertain significance Single submitter
- UBE3C p.Lys235Glu Uncertain significance Single submitter
- UBE3C p.Lys782Arg Uncertain significance Single submitter
- UBE3C p.Met202Val Uncertain significance Single submitter
- UBE3C p.Met438Val Uncertain significance Single submitter
- UBE3C p.Met475Val Uncertain significance Single submitter
- UBE3C p.Met534Val Uncertain significance Single submitter
- UBE3C p.Met656Leu Uncertain significance Single submitter
- UBE3C p.Phe103Cys Uncertain significance Single submitter
- UBE3C p.Pro381Leu Uncertain significance Single submitter
- UBE3C p.Pro487Ser Uncertain significance Single submitter
- UBE3C p.Pro674Leu Uncertain significance Single submitter
- UBE3C p.Ser125Gly Uncertain significance Single submitter
- UBE3C p.Ser176Leu Uncertain significance Single submitter
- UBE3C p.Ser350Cys Uncertain significance Single submitter
- UBE3C p.Ser532Leu Uncertain significance Single submitter
- UBE3C p.Ser82Cys Uncertain significance Single submitter
- UBE3C p.Thr262Ala Uncertain significance Single submitter
- UBE3C p.Thr431Met Uncertain significance Single submitter
- UBE3C p.Thr794Ala Uncertain significance Single submitter
- UBE3C p.Thr795Ala Uncertain significance Single submitter
- UBE3C p.Val174Ala Uncertain significance Single submitter
- UBE3C p.Val192Leu Uncertain significance Single submitter
- UBE3C p.Val344Ala Uncertain significance Single submitter
- UBE3C p.Val443Phe Uncertain significance Single submitter
-
UBE3C p.Asn744Asp
Uncertain significance
No assertion criteria
UBE3C-related disorder
Predictors split 18
The independent predictors disagree with each other — read with care.
- UBE3C p.Arg1067Gln Uncertain significance Single submitter
- UBE3C p.Arg113His Uncertain significance Single submitter
- UBE3C p.Cys395Ser Uncertain significance Single submitter
- UBE3C p.Glu1063Lys Uncertain significance Single submitter
- UBE3C p.Gly337Arg Uncertain significance Single submitter
- UBE3C p.His515Arg Uncertain significance Single submitter
- UBE3C p.His857Asn Uncertain significance Single submitter
- UBE3C p.Ile514Thr Uncertain significance Single submitter
- UBE3C p.Leu132Met Uncertain significance Single submitter
- UBE3C p.Leu834Val Uncertain significance Single submitter
- UBE3C p.Met148Ile Uncertain significance Single submitter
- UBE3C p.Pro536Ser Uncertain significance Single submitter
- UBE3C p.Ser176Trp Uncertain significance Single submitter
- UBE3C p.Ser513Ala Uncertain significance Single submitter
- UBE3C p.Thr401Ile Uncertain significance Single submitter
- UBE3C p.Tyr105Cys Uncertain significance Single submitter
- UBE3C p.Tyr447Cys Uncertain significance Single submitter
- UBE3C p.Tyr819Cys Uncertain significance Single submitter
All UBE3C variants
Pathogenic/Likely pathogenic 1
- p.Asp667fs Multiple submitters neurodevelopmental disorder with absent speech and movement and behavioral abnormalities
Benign 3
- c.459-8T>C No assertion criteria UBE3C-related disorder
- p.Pro253= No assertion criteria UBE3C-related disorder
- p.Tyr501= No assertion criteria UBE3C-related disorder
Likely benign 18
- p.Ala918= Multiple submitters
- c.1331+17G>A Single submitter
- c.2695-16C>T Single submitter
- c.2695-20C>T Single submitter
- p.Ala315= Single submitter
- p.Arg930Lys Single submitter
- p.Leu1057= Single submitter
- p.Leu349= Single submitter
- p.Pro1058= Single submitter
- p.Pro673= Single submitter
- p.Ser176= Single submitter
- p.Ser913= Single submitter
- p.Tyr876= Single submitter
- p.Val428Ile Single submitter
- p.Val604= Single submitter
- c.1143+9C>T No assertion criteria UBE3C-related disorder
- p.Gln934Pro No assertion criteria UBE3C-related disorder
- p.His755= No assertion criteria UBE3C-related disorder
Uncertain significance 109
- c.2694+5G>C Single submitter neurodevelopmental disorder with absent speech and movement and behavioral abnormalities
- p.Ala1032Ser Single submitter ⚠
- p.Ala286Val Single submitter ⚠
- p.Ala365Ser Single submitter ⚠
- p.Ala806Val Single submitter ⚠
- p.Ala897Val Single submitter ⚠
- p.Ala918Gly Single submitter ⚠
- p.Arg1009Cys Single submitter
- p.Arg1067Gln Single submitter ⚠
- p.Arg113Cys Single submitter ⚠
- p.Arg113His Single submitter ⚠
- p.Arg230Gln Single submitter ⚠
- p.Arg307Gly Single submitter ⚠
- p.Arg454Thr Single submitter ⚠
- p.Arg469Gln Single submitter ⚠
- p.Arg495Gly Single submitter ⚠
- p.Arg547Gly Single submitter ⚠
- p.Arg654Gln Single submitter ⚠
- p.Arg655Trp Single submitter
- p.Arg704Lys Single submitter ⚠
- p.Arg753Cys Single submitter ⚠
- p.Arg933Cys Single submitter
- p.Arg933His Single submitter ⚠
- p.Arg953Gln Single submitter ⚠
- p.Asn205Ser Single submitter ⚠
- p.Asn299Ser Single submitter ⚠
- p.Asn328Tyr Single submitter ⚠
- p.Asn410Thr Single submitter ⚠
- p.Asn607Ser Single submitter ⚠
- p.Asn724Ile Single submitter ⚠
- p.Asn786Asp Single submitter ⚠
- p.Asn892Ser Single submitter ⚠
- p.Asp363Asn Single submitter ⚠
- p.Asp522Gly Single submitter ⚠
- p.Asp522Tyr Single submitter ⚠
- p.Asp721Gly Single submitter ⚠
- p.Asp735Gly Single submitter ⚠
- p.Asp812Tyr Single submitter
- p.Asp879Asn Single submitter ⚠
- p.Cys158Tyr Single submitter ⚠
- p.Cys308Gly Single submitter ⚠
- p.Cys395Ser Single submitter ⚠
- p.Gln69Glu Single submitter ⚠
- p.Glu1006Asp Single submitter ⚠
- p.Glu1063Lys Single submitter ⚠
- p.Glu305Gln Single submitter ⚠
- p.Glu382Asp Single submitter ⚠
- p.Gly1002Glu Single submitter ⚠
- p.Gly337Arg Single submitter ⚠
- p.Gly715Arg Single submitter
- p.Gly84Ser Single submitter ⚠
- p.His246Leu Single submitter ⚠
- p.His515Arg Single submitter ⚠
- p.His649Arg Single submitter ⚠
- p.His857Asn Single submitter ⚠
- p.Ile144Met Single submitter ⚠
- p.Ile233Leu Single submitter ⚠
- p.Ile233Val Single submitter ⚠
- p.Ile281Ser Single submitter ⚠
- p.Ile304Thr Single submitter ⚠
- p.Ile50Val Single submitter ⚠
- p.Ile514Thr Single submitter ⚠
- p.Ile524Val Single submitter ⚠
- p.Ile68Val Single submitter ⚠
- p.Ile88Val Single submitter ⚠
- p.Ile993Val Single submitter ⚠
- p.Leu1071Ile Single submitter ⚠
- p.Leu117Val Single submitter ⚠
- p.Leu132Met Single submitter ⚠
- p.Leu199Phe Single submitter ⚠
- p.Leu386Pro Single submitter ⚠
- p.Leu757Val Single submitter ⚠
- p.Leu834Val Single submitter ⚠
- p.Lys235Glu Single submitter ⚠
- p.Lys782Arg Single submitter ⚠
- p.Met148Ile Single submitter ⚠
- p.Met202Val Single submitter ⚠
- p.Met425Thr Single submitter neurodevelopmental disorder with absent speech and movement and behavioral abnormalities
- p.Met438Val Single submitter ⚠
- p.Met475Val Single submitter ⚠
- p.Met534Val Single submitter ⚠
- p.Met656Leu Single submitter ⚠
- p.Phe103Cys Single submitter ⚠
- p.Pro381Leu Single submitter ⚠
- p.Pro487Ser Single submitter ⚠
- p.Pro536Ser Single submitter ⚠
- p.Pro674Leu Single submitter ⚠
- p.Ser125Gly Single submitter ⚠
- p.Ser176fs Single submitter
- p.Ser176Leu Single submitter ⚠
- p.Ser176Trp Single submitter ⚠
- p.Ser350Cys Single submitter ⚠
- p.Ser513Ala Single submitter ⚠
- p.Ser532Leu Single submitter ⚠
- p.Ser82Cys Single submitter ⚠
- p.Thr262Ala Single submitter ⚠
- p.Thr401Ile Single submitter ⚠
- p.Thr431Met Single submitter ⚠
- p.Thr794Ala Single submitter ⚠
- p.Thr795Ala Single submitter ⚠
- p.Tyr105Cys Single submitter ⚠
- p.Tyr105His Single submitter
- p.Tyr447Cys Single submitter ⚠
- p.Tyr819Cys Single submitter ⚠
- p.Val174Ala Single submitter ⚠
- p.Val192Leu Single submitter ⚠
- p.Val344Ala Single submitter ⚠
- p.Val443Phe Single submitter ⚠
- p.Asn744Asp No assertion criteria UBE3C-related disorder ⚠