UBA3 — 44 ClinVar variants
All ClinVar germline UBA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
1 Likely benign · 43 Uncertain significance
Full UBA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- UBA3 p.Ala219Thr Uncertain significance Single submitter
- UBA3 p.Ala2Gly Uncertain significance Single submitter
- UBA3 p.Ala445Val Uncertain significance Single submitter
- UBA3 p.Arg116Gly Uncertain significance Single submitter
- UBA3 p.Arg157Gln Uncertain significance Single submitter
- UBA3 p.Arg94Thr Uncertain significance Single submitter
- UBA3 p.Asn152His Uncertain significance Single submitter
- UBA3 p.Asn391Ser Uncertain significance Single submitter
- UBA3 p.Gln279Glu Uncertain significance Single submitter
- UBA3 p.Gln369His Uncertain significance Single submitter
- UBA3 p.Glu359Lys Uncertain significance Single submitter
- UBA3 p.Glu6Asp Uncertain significance Single submitter
- UBA3 p.Glu6Gly Uncertain significance Single submitter
- UBA3 p.Gly4Ser Uncertain significance Single submitter
- UBA3 p.His144Tyr Uncertain significance Single submitter
- UBA3 p.Ile161Val Uncertain significance Single submitter
- UBA3 p.Ile169Val Uncertain significance Single submitter
- UBA3 p.Ile221Met Uncertain significance Single submitter
- UBA3 p.Ile421Val Uncertain significance Single submitter
- UBA3 p.Ile96Val Uncertain significance Single submitter
- UBA3 p.Leu245Arg Uncertain significance Single submitter
- UBA3 p.Leu413Ile Uncertain significance Single submitter
- UBA3 p.Lys260Gln Uncertain significance Single submitter
- UBA3 p.Pro263His Uncertain significance Single submitter
- UBA3 p.Ser315Pro Uncertain significance Single submitter
- UBA3 p.Ser420Thr Uncertain significance Single submitter
- UBA3 p.Ser463Ala Uncertain significance Single submitter
- UBA3 p.Ser62Thr Uncertain significance Single submitter
- UBA3 p.Thr31Ala Uncertain significance Single submitter
- UBA3 p.Thr419Ile Uncertain significance Single submitter
- UBA3 p.Thr462Ala Uncertain significance Single submitter
- UBA3 p.Thr69Ile Uncertain significance Single submitter
- UBA3 p.Tyr156Cys Uncertain significance Single submitter
- UBA3 p.Val163Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- UBA3 p.Cys139Gly Uncertain significance Single submitter
- UBA3 p.Gly265Arg Uncertain significance Single submitter
- UBA3 p.Ile175Met Uncertain significance Single submitter
- UBA3 p.Pro275Ser Uncertain significance Single submitter
- UBA3 p.Trp34Arg Uncertain significance Single submitter
- UBA3 p.Val306Leu Uncertain significance Single submitter
All UBA3 variants
Likely benign 1
- p.Met255Ile Single submitter
Uncertain significance 43
- c.20+7A>G Single submitter
- p.Ala219Thr Single submitter ⚠
- p.Ala2Gly Single submitter ⚠
- p.Ala445Val Single submitter ⚠
- p.Arg116Gly Single submitter ⚠
- p.Arg157Gln Single submitter ⚠
- p.Arg94Thr Single submitter ⚠
- p.Asn152His Single submitter ⚠
- p.Asn391Ser Single submitter ⚠
- p.Cys139Gly Single submitter ⚠
- p.Gln279Glu Single submitter ⚠
- p.Gln369His Single submitter ⚠
- p.Gln416Ter Single submitter
- p.Glu359Lys Single submitter ⚠
- p.Glu6Asp Single submitter ⚠
- p.Glu6Gly Single submitter ⚠
- p.Gly265Arg Single submitter ⚠
- p.Gly4Ser Single submitter ⚠
- p.His144Tyr Single submitter ⚠
- p.Ile161Val Single submitter ⚠
- p.Ile169Val Single submitter ⚠
- p.Ile175Met Single submitter ⚠
- p.Ile221Met Single submitter ⚠
- p.Ile421Val Single submitter ⚠
- p.Ile96Val Single submitter ⚠
- p.Leu245Arg Single submitter ⚠
- p.Leu413Ile Single submitter ⚠
- p.Lys260Gln Single submitter ⚠
- p.Met217Lys Single submitter
- p.Pro263His Single submitter ⚠
- p.Pro275Ser Single submitter ⚠
- p.Ser315Pro Single submitter ⚠
- p.Ser420Thr Single submitter ⚠
- p.Ser463Ala Single submitter ⚠
- p.Ser62Thr Single submitter ⚠
- p.Thr31Ala Single submitter ⚠
- p.Thr419Ile Single submitter ⚠
- p.Thr462Ala Single submitter ⚠
- p.Thr69Ile Single submitter ⚠
- p.Trp34Arg Single submitter ⚠
- p.Tyr156Cys Single submitter ⚠
- p.Val163Ile Single submitter ⚠
- p.Val306Leu Single submitter ⚠