TUBA3E — 55 ClinVar variants
All ClinVar germline TUBA3E variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Likely pathogenic · 7 Benign · 8 Likely benign · 39 Uncertain significance
Full TUBA3E gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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TUBA3E p.Arg215Cys
Likely pathogenic
No assertion criteria
Primary microcephaly
Predictors lean, ClinVar uncertain 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TUBA3E p.Ala449Thr Uncertain significance Single submitter
- TUBA3E p.Arg123Leu Uncertain significance Single submitter
- TUBA3E p.Arg123Pro Uncertain significance Single submitter
- TUBA3E p.Arg229Cys Uncertain significance Single submitter
- TUBA3E p.Arg229His Uncertain significance Single submitter
- TUBA3E p.Asn216Ser Uncertain significance Single submitter
- TUBA3E p.Asn228His Uncertain significance Single submitter
- TUBA3E p.Asp251Gly Uncertain significance Single submitter
- TUBA3E p.Asp327Gly Uncertain significance Single submitter
- TUBA3E p.Cys295Ser Uncertain significance Single submitter
- TUBA3E p.Cys295Tyr Uncertain significance Single submitter
- TUBA3E p.Glu284Gly Uncertain significance Single submitter
- TUBA3E p.Gly131Glu Uncertain significance Single submitter
- TUBA3E p.Gly366Val Uncertain significance Single submitter
- TUBA3E p.His266Asn Uncertain significance Single submitter
- TUBA3E p.His28Arg Uncertain significance Single submitter
- TUBA3E p.Leu227Phe Uncertain significance Single submitter
- TUBA3E p.Pro263His Uncertain significance Single submitter
- TUBA3E p.Pro268Arg Uncertain significance Single submitter
- TUBA3E p.Pro348Leu Uncertain significance Single submitter
- TUBA3E p.Pro72Ser Uncertain significance Single submitter
- TUBA3E p.Thr51Met Uncertain significance Single submitter
- TUBA3E p.Tyr408His Uncertain significance Single submitter
- TUBA3E p.Val260Met Uncertain significance Single submitter
- TUBA3E p.Val344Ala Uncertain significance Single submitter
- TUBA3E p.Val62Met Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- TUBA3E p.Ala126Val Benign Multiple submitters
- TUBA3E p.Arg156Trp Benign Multiple submitters
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TUBA3E p.Ala426Glu
Uncertain significance
Single submitter
neurodevelopmental disorder
- TUBA3E p.Arg214Gln Uncertain significance Single submitter
- TUBA3E p.Arg214Trp Likely benign Single submitter
- TUBA3E p.Asn206Ser Uncertain significance Single submitter
- TUBA3E p.Asp431Gly Uncertain significance Single submitter
- TUBA3E p.Glu448Lys Uncertain significance Single submitter
- TUBA3E p.Gly416Arg Likely benign Single submitter
- TUBA3E p.His406Arg Uncertain significance Single submitter
- TUBA3E p.Leu152Met Uncertain significance Single submitter
- TUBA3E p.Phe52Leu Uncertain significance Single submitter
- TUBA3E p.Thr225Ala Uncertain significance Single submitter
- TUBA3E p.Thr382Met Uncertain significance Single submitter
- TUBA3E p.Tyr399Cys Uncertain significance Single submitter
All TUBA3E variants
Likely pathogenic 1
- p.Arg215Cys No assertion criteria Primary microcephaly ⚠
Benign 7
- c.376-14C>G Multiple submitters
- p.Ala126Val Multiple submitters ⚠
- p.Arg156Trp Multiple submitters ⚠
- p.Arg221Ser Multiple submitters
- p.Arg422= Multiple submitters
- p.Ser101Asn Multiple submitters
- p.Tyr103= Multiple submitters
Likely benign 8
- p.His309= Multiple submitters
- p.Ala385= Single submitter
- p.Arg214Trp Single submitter ⚠
- p.Gly416Arg Single submitter ⚠
- p.Thr223= Single submitter
- p.Thr239= Single submitter
- p.Val392Asp Single submitter
- p.Val75= Single submitter
Uncertain significance 39
- c.1056+1G>A Single submitter
- p.Ala426Glu Single submitter neurodevelopmental disorder ⚠
- p.Ala449Thr Single submitter ⚠
- p.Arg123Leu Single submitter ⚠
- p.Arg123Pro Single submitter ⚠
- p.Arg214Gln Single submitter ⚠
- p.Arg229Cys Single submitter ⚠
- p.Arg229His Single submitter ⚠
- p.Asn206Ser Single submitter ⚠
- p.Asn216Ser Single submitter ⚠
- p.Asn228His Single submitter ⚠
- p.Asp251Gly Single submitter ⚠
- p.Asp327Gly Single submitter ⚠
- p.Asp431Gly Single submitter ⚠
- p.Cys295Ser Single submitter ⚠
- p.Cys295Tyr Single submitter ⚠
- p.Glu284Gly Single submitter ⚠
- p.Glu448Lys Single submitter ⚠
- p.Gly131Glu Single submitter ⚠
- p.Gly366Val Single submitter ⚠
- p.His266Asn Single submitter ⚠
- p.His28Arg Single submitter ⚠
- p.His406Arg Single submitter ⚠
- p.Leu152Met Single submitter ⚠
- p.Leu227Phe Single submitter ⚠
- p.Phe52Leu Single submitter ⚠
- p.Pro263His Single submitter ⚠
- p.Pro268Arg Single submitter ⚠
- p.Pro348Leu Single submitter ⚠
- p.Pro72Ser Single submitter ⚠
- p.Thr225Ala Single submitter ⚠
- p.Thr382Met Single submitter ⚠
- p.Thr51Met Single submitter ⚠
- p.Tyr224Ser Single submitter
- p.Tyr399Cys Single submitter ⚠
- p.Tyr408His Single submitter ⚠
- p.Val260Met Single submitter ⚠
- p.Val344Ala Single submitter ⚠
- p.Val62Met Single submitter ⚠