UBA6 — 137 ClinVar variants
All ClinVar germline UBA6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 119 flagged for review →
1 Benign · 6 Likely benign · 130 Uncertain significance
Full UBA6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 119
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 96
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- UBA6 p.Ala526Val Uncertain significance Single submitter
- UBA6 p.Ala540Val Uncertain significance Single submitter
- UBA6 p.Ala567Val Uncertain significance Single submitter
- UBA6 p.Ala824Val Uncertain significance Single submitter
- UBA6 p.Arg248Gln Uncertain significance Single submitter
- UBA6 p.Arg642Gly Uncertain significance Single submitter
- UBA6 p.Arg727Gln Uncertain significance Single submitter
- UBA6 p.Arg869His Uncertain significance Single submitter
- UBA6 p.Arg885His Uncertain significance Single submitter
- UBA6 p.Asn220Ser Uncertain significance Single submitter
- UBA6 p.Asn612Ser Uncertain significance Single submitter
- UBA6 p.Asn760His Uncertain significance Single submitter
- UBA6 p.Asn799Ser Uncertain significance Single submitter
- UBA6 p.Asp100Gly Uncertain significance Single submitter
- UBA6 p.Asp1035Gly Uncertain significance Single submitter
- UBA6 p.Asp147Asn Uncertain significance Single submitter
- UBA6 p.Asp172Glu Uncertain significance Single submitter
- UBA6 p.Asp201Gly Uncertain significance Single submitter
- UBA6 p.Asp374Asn Uncertain significance Single submitter
- UBA6 p.Asp562Gly Uncertain significance Single submitter
- UBA6 p.Asp820Val Uncertain significance Single submitter
- UBA6 p.Asp854Ala Uncertain significance Single submitter
- UBA6 p.Asp956Gly Uncertain significance Single submitter
- UBA6 p.Cys17Ser Uncertain significance Single submitter
- UBA6 p.Gln11Leu Uncertain significance Single submitter
- UBA6 p.Gln261Arg Uncertain significance Single submitter
- UBA6 p.Gln349Glu Uncertain significance Single submitter
- UBA6 p.Glu13Gly Uncertain significance Single submitter
- UBA6 p.Glu2Val Uncertain significance Single submitter
- UBA6 p.Glu367Gly Uncertain significance Single submitter
- UBA6 p.Glu5Gln Uncertain significance Single submitter
- UBA6 p.Glu789Asp Uncertain significance Single submitter
- UBA6 p.Gly429Asp Uncertain significance Single submitter
- UBA6 p.Gly731Asp Uncertain significance Single submitter
- UBA6 p.Gly731Val Uncertain significance Single submitter
- UBA6 p.Gly73Asp Uncertain significance Single submitter
- UBA6 p.His1010Asn Uncertain significance Single submitter
- UBA6 p.His134Arg Uncertain significance Single submitter
- UBA6 p.His189Arg Uncertain significance Single submitter
- UBA6 p.His235Arg Uncertain significance Single submitter
- UBA6 p.His606Arg Uncertain significance Single submitter
- UBA6 p.His961Arg Uncertain significance Single submitter
- UBA6 p.His961Tyr Uncertain significance Single submitter
- UBA6 p.Ile260Val Uncertain significance Single submitter
- UBA6 p.Ile287Val Uncertain significance Single submitter
- UBA6 p.Ile463Val Uncertain significance Single submitter
- UBA6 p.Ile634Val Uncertain significance Single submitter
- UBA6 p.Ile686Met Uncertain significance Single submitter
- UBA6 p.Ile816Thr Uncertain significance Single submitter
- UBA6 p.Ile932Val Uncertain significance Single submitter
- UBA6 p.Leu206Val Uncertain significance Single submitter
- UBA6 p.Leu390Phe Uncertain significance Single submitter
- UBA6 p.Leu461Val Uncertain significance Single submitter
- UBA6 p.Leu51Ile Uncertain significance Single submitter
- UBA6 p.Leu530Val Uncertain significance Single submitter
- UBA6 p.Leu582Ser Uncertain significance Single submitter
- UBA6 p.Leu724Val Uncertain significance Single submitter
- UBA6 p.Lys1006Arg Uncertain significance Single submitter
- UBA6 p.Lys169Gln Uncertain significance Single submitter
- UBA6 p.Lys310Arg Uncertain significance Single submitter
- UBA6 p.Lys791Asn Uncertain significance Single submitter
- UBA6 p.Lys830Glu Uncertain significance Single submitter
- UBA6 p.Lys871Arg Uncertain significance Single submitter
- UBA6 p.Lys922Arg Uncertain significance Single submitter
- UBA6 p.Lys945Asn Uncertain significance Single submitter
- UBA6 p.Met32Ile Uncertain significance Single submitter
- UBA6 p.Phe271Cys Uncertain significance Single submitter
- UBA6 p.Phe510Leu Uncertain significance Single submitter
- UBA6 p.Phe881Ile Uncertain significance Single submitter
- UBA6 p.Pro294Ala Uncertain significance Single submitter
- UBA6 p.Pro369Leu Uncertain significance Single submitter
- UBA6 p.Pro6Leu Uncertain significance Single submitter
- UBA6 p.Pro741Leu Uncertain significance Single submitter
- UBA6 p.Pro917Arg Uncertain significance Single submitter
- UBA6 p.Pro999Leu Uncertain significance Single submitter
- UBA6 p.Ser16Phe Uncertain significance Single submitter
- UBA6 p.Ser185Asn Uncertain significance Single submitter
- UBA6 p.Ser522Asn Uncertain significance Single submitter
- UBA6 p.Ser613Gly Uncertain significance Single submitter
- UBA6 p.Ser647Thr Uncertain significance Single submitter
- UBA6 p.Ser654Thr Uncertain significance Single submitter
- UBA6 p.Ser951Leu Uncertain significance Single submitter
- UBA6 p.Thr264Arg Uncertain significance Single submitter
- UBA6 p.Thr34Ala Uncertain significance Single submitter
- UBA6 p.Thr524Ser Uncertain significance Single submitter
- UBA6 p.Thr807Ile Uncertain significance Single submitter
- UBA6 p.Thr938Arg Uncertain significance Single submitter
- UBA6 p.Trp20Cys Uncertain significance Single submitter
- UBA6 p.Tyr1046His Uncertain significance Single submitter
- UBA6 p.Tyr558Phe Uncertain significance Single submitter
- UBA6 p.Val1022Leu Uncertain significance Single submitter
- UBA6 p.Val140Ile Uncertain significance Single submitter
- UBA6 p.Val205Ile Uncertain significance Single submitter
- UBA6 p.Val289Ile Uncertain significance Single submitter
- UBA6 p.Val314Glu Uncertain significance Single submitter
- UBA6 p.Val50Ile Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- UBA6 p.Arg513His Uncertain significance Single submitter
- UBA6 p.Arg880Cys Uncertain significance Single submitter
- UBA6 p.Arg880His Uncertain significance Single submitter
-
UBA6 p.Gln167Arg
Uncertain significance
Single submitter
autism spectrum disorder
- UBA6 p.Gln671Arg Uncertain significance Single submitter
- UBA6 p.Gly676Val Uncertain significance Single submitter
- UBA6 p.Ile634Thr Uncertain significance Single submitter
- UBA6 p.Leu403Phe Uncertain significance Single submitter
- UBA6 p.Lys169Asn Uncertain significance Single submitter
- UBA6 p.Lys652Asn Uncertain significance Single submitter
- UBA6 p.Phe199Leu Uncertain significance Single submitter
- UBA6 p.Phe247Leu Uncertain significance Single submitter
- UBA6 p.Pro1015His Uncertain significance Single submitter
- UBA6 p.Pro1015Ser Uncertain significance Single submitter
- UBA6 p.Pro618Ala Uncertain significance Single submitter
- UBA6 p.Pro752His Uncertain significance Single submitter
- UBA6 p.Ser267Leu Uncertain significance Single submitter
- UBA6 p.Ser272Gly Uncertain significance Single submitter
- UBA6 p.Ser360Phe Uncertain significance Single submitter
- UBA6 p.Ser45Gly Uncertain significance Single submitter
- UBA6 p.Ser665Cys Uncertain significance Single submitter
- UBA6 p.Ser675Ile Uncertain significance Single submitter
- UBA6 p.Val987Ala Uncertain significance Single submitter
All UBA6 variants
Benign 1
- c.72-13dup Single submitter
Likely benign 6
- p.Ala774Thr Single submitter
- p.Asn171= Single submitter
- p.Ile1032Thr Single submitter
- p.Leu542= Single submitter
- p.Phe142Leu Single submitter
- p.Val297Phe Single submitter
Uncertain significance 130
- p.Ala526Val Single submitter ⚠
- p.Ala540Val Single submitter ⚠
- p.Ala55Gly Single submitter
- p.Ala567Val Single submitter ⚠
- p.Ala824Val Single submitter ⚠
- p.Arg248Gln Single submitter ⚠
- p.Arg513Cys Single submitter
- p.Arg513His Single submitter ⚠
- p.Arg642Gly Single submitter ⚠
- p.Arg727Gln Single submitter ⚠
- p.Arg869His Single submitter ⚠
- p.Arg880Cys Single submitter ⚠
- p.Arg880His Single submitter ⚠
- p.Arg885Cys Single submitter
- p.Arg885His Single submitter ⚠
- p.Asn220Ser Single submitter ⚠
- p.Asn612Ser Single submitter ⚠
- p.Asn760His Single submitter ⚠
- p.Asn799Ser Single submitter ⚠
- p.Asp100Gly Single submitter ⚠
- p.Asp1035Gly Single submitter ⚠
- p.Asp147Asn Single submitter ⚠
- p.Asp172Glu Single submitter ⚠
- p.Asp201Gly Single submitter ⚠
- p.Asp374Asn Single submitter ⚠
- p.Asp562Gly Single submitter ⚠
- p.Asp820Val Single submitter ⚠
- p.Asp854Ala Single submitter ⚠
- p.Asp956Gly Single submitter ⚠
- p.Cys17Ser Single submitter ⚠
- p.Gln11Leu Single submitter ⚠
- p.Gln167Arg Single submitter autism spectrum disorder ⚠
- p.Gln261Arg Single submitter ⚠
- p.Gln349Glu Single submitter ⚠
- p.Gln671Arg Single submitter ⚠
- p.Glu13Gly Single submitter ⚠
- p.Glu2Val Single submitter ⚠
- p.Glu367Gly Single submitter ⚠
- p.Glu5Gln Single submitter ⚠
- p.Glu789Asp Single submitter ⚠
- p.Gly429Asp Single submitter ⚠
- p.Gly676Val Single submitter ⚠
- p.Gly731Asp Single submitter ⚠
- p.Gly731Val Single submitter ⚠
- p.Gly73Asp Single submitter ⚠
- p.His1010Asn Single submitter ⚠
- p.His134Arg Single submitter ⚠
- p.His189Arg Single submitter ⚠
- p.His235Arg Single submitter ⚠
- p.His606Arg Single submitter ⚠
- p.His754Pro Single submitter
- p.His961Arg Single submitter ⚠
- p.His961Tyr Single submitter ⚠
- p.Ile260Val Single submitter ⚠
- p.Ile287Val Single submitter ⚠
- p.Ile463Val Single submitter ⚠
- p.Ile634Thr Single submitter ⚠
- p.Ile634Val Single submitter ⚠
- p.Ile686Met Single submitter ⚠
- p.Ile792Asn Single submitter
- p.Ile816Thr Single submitter ⚠
- p.Ile932Val Single submitter ⚠
- p.Leu206Val Single submitter ⚠
- p.Leu390Phe Single submitter ⚠
- p.Leu403Phe Single submitter ⚠
- p.Leu461Val Single submitter ⚠
- p.Leu51Ile Single submitter ⚠
- p.Leu530Val Single submitter ⚠
- p.Leu582Ser Single submitter ⚠
- p.Leu679Ser Single submitter
- p.Leu724Val Single submitter ⚠
- p.Lys1006Arg Single submitter ⚠
- p.Lys169Asn Single submitter ⚠
- p.Lys169Gln Single submitter ⚠
- p.Lys310Arg Single submitter ⚠
- p.Lys652Asn Single submitter ⚠
- p.Lys791Asn Single submitter ⚠
- p.Lys830Glu Single submitter ⚠
- p.Lys871Arg Single submitter ⚠
- p.Lys922Arg Single submitter ⚠
- p.Lys945Asn Single submitter ⚠
- p.Met32Ile Single submitter ⚠
- p.Phe199Leu Single submitter ⚠
- p.Phe247Leu Single submitter ⚠
- p.Phe271Cys Single submitter ⚠
- p.Phe510Leu Single submitter ⚠
- p.Phe881Ile Single submitter ⚠
- p.Pro1015His Single submitter ⚠
- p.Pro1015Ser Single submitter ⚠
- p.Pro294Ala Single submitter ⚠
- p.Pro369Leu Single submitter ⚠
- p.Pro618Ala Single submitter ⚠
- p.Pro6Leu Single submitter ⚠
- p.Pro741Leu Single submitter ⚠
- p.Pro752His Single submitter ⚠
- p.Pro797Ser Single submitter
- p.Pro917Arg Single submitter ⚠
- p.Pro999Leu Single submitter ⚠
- p.Ser16Phe Single submitter ⚠
- p.Ser185Asn Single submitter ⚠
- p.Ser267Leu Single submitter ⚠
- p.Ser272Gly Single submitter ⚠
- p.Ser360Phe Single submitter ⚠
- p.Ser45Gly Single submitter ⚠
- p.Ser522Asn Single submitter ⚠
- p.Ser613Gly Single submitter ⚠
- p.Ser647Ile Single submitter
- p.Ser647Thr Single submitter ⚠
- p.Ser654Thr Single submitter ⚠
- p.Ser665Cys Single submitter ⚠
- p.Ser675Ile Single submitter ⚠
- p.Ser951Leu Single submitter ⚠
- p.Thr264Arg Single submitter ⚠
- p.Thr34Ala Single submitter ⚠
- p.Thr524Ser Single submitter ⚠
- p.Thr549Ala Single submitter
- p.Thr807Ile Single submitter ⚠
- p.Thr938Arg Single submitter ⚠
- p.Trp20Cys Single submitter ⚠
- p.Tyr1046His Single submitter ⚠
- p.Tyr558Phe Single submitter ⚠
- p.Tyr979Cys Single submitter
- p.Val1022Leu Single submitter ⚠
- p.Val140Ile Single submitter ⚠
- p.Val205Ile Single submitter ⚠
- p.Val265Glu Single submitter
- p.Val289Ile Single submitter ⚠
- p.Val314Glu Single submitter ⚠
- p.Val50Ile Single submitter ⚠
- p.Val987Ala Single submitter ⚠