TUBA1B — 16 ClinVar variants
All ClinVar germline TUBA1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 4 flagged for review →
4 Benign · 8 Likely benign · 4 Uncertain significance
Full TUBA1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 4
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 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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TUBA1B p.Ala369Pro
Uncertain significance
Single submitter
neuromuscular disease
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TUBA1B p.Arg229His
Uncertain significance
Single submitter
TUBA1B-associated neurodevelopmental disorder
- TUBA1B p.Thr145Ser Uncertain significance Single submitter
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TUBA1B p.Tyr185Cys
Uncertain significance
Single submitter
congenital fibrosis of extraocular muscles
All TUBA1B variants
Benign 4
- p.Lys164= Multiple submitters
- p.Pro173= Multiple submitters
- c.4-20_4-19del Single submitter
- p.His8= Single submitter
Likely benign 8
Uncertain significance 4
- p.Ala369Pro Single submitter neuromuscular disease ⚠
- p.Arg229His Single submitter TUBA1B-associated neurodevelopmental disorder ⚠
- p.Thr145Ser Single submitter ⚠
- p.Tyr185Cys Single submitter congenital fibrosis of extraocular muscles ⚠