Sugi Variant

Sugi Variant/TUBB3

TUBB3 — 366 ClinVar variants

All ClinVar germline TUBB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 151 flagged for review →

15 Pathogenic · 10 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 25 Conflicting · 27 Benign · 11 Benign/Likely benign · 97 Likely benign · 149 Uncertain significance

Full TUBB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 151

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 15

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 111

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 23

The independent predictors disagree with each other — read with care.

All TUBB3 variants

Pathogenic 15

  • p.Ala302Thr Multiple submitters fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
  • p.Arg262Cys Multiple submitters congenital fibrosis of extraocular muscles
  • p.Arg380Cys Multiple submitters Inborn genetic diseases
  • p.Arg391Leu Multiple submitters complex cortical dysplasia with other brain malformations 1
  • p.Glu205Lys Multiple submitters complex cortical dysplasia with other brain malformations 1
  • p.Glu410Lys Multiple submitters TUBB3-Releated Disorders
  • p.Ala302Ser Single submitter ⚠
  • p.Arg282Pro Single submitter
  • p.Arg46Gln Single submitter
  • p.Leu228Pro Single submitter
  • p.Met323Val Single submitter complex cortical dysplasia with other brain malformations 1
  • p.Phe367Ile Single submitter
  • p.Ala302Val No assertion criteria complex cortical dysplasia with other brain malformations 1
  • p.Asp417His No assertion criteria fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
  • p.Val193Met No assertion criteria complex cortical dysplasia with other brain malformations 1

Pathogenic/Likely pathogenic 10

  • p.Arg262His Multiple submitters TUBB3-related tubulinopathy
  • p.Asp417Asn Multiple submitters TUBB3-related tubulinopathy
  • p.Glu288Lys Multiple submitters TUBB3-related tubulinopathy
  • p.Gly142Ser Multiple submitters complex cortical dysplasia with other brain malformations 1
  • p.Gly71Arg Multiple submitters TUBB3-related tubulinopathy
  • p.Gly98Ser Multiple submitters complex cortical dysplasia with other brain malformations 1
  • p.Met388Val Multiple submitters complex cortical dysplasia with other brain malformations 1
  • p.Ser230Leu Multiple submitters complex cortical dysplasia with other brain malformations 1
  • p.Thr178Met Multiple submitters Inborn genetic diseases
  • p.Val255Ile Multiple submitters complex cortical dysplasia with other brain malformations 1

Likely pathogenic 32

  • p.Arg391His Multiple submitters
  • p.Glu205Ala Multiple submitters TUBB3-related disorder
  • p.Leu273Val Multiple submitters complex cortical dysplasia with other brain malformations 1
  • p.Ala283Ser Single submitter ⚠
  • p.Ala314Thr Single submitter TUBB3-related disorder
  • p.Arg318Gln Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation
  • p.Arg380Pro Single submitter complex cortical dysplasia with other brain malformations 1
  • p.Arg380Ser Single submitter complex cortical dysplasia with other brain malformations 1
  • p.Arg62Gln Single submitter fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
  • p.Asn184Ser Single submitter ⚠
  • p.Cys129Tyr Single submitter
  • p.Glu205Gln Single submitter complex cortical dysplasia with other brain malformations 1
  • p.Glu288Ala Single submitter complex cortical dysplasia with other brain malformations 1
  • p.Gly71Ala Single submitter
  • p.Leu361Ile Single submitter
  • p.Leu84Phe Single submitter TUBB3-related disorder ⚠
  • p.Met403Ile Single submitter
  • p.Pro171Thr Single submitter fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
  • p.Pro243Arg Single submitter
  • p.Ser239Phe Single submitter ⚠
  • p.Ser25Asn Single submitter
  • p.Ser278Arg Single submitter
  • p.Ser78Leu Single submitter fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
  • p.Thr199Ile Single submitter
  • p.Tyr310Cys Single submitter complex cortical dysplasia with other brain malformations 1
  • p.Val342Met Single submitter spastic ataxia
  • p.Val60Leu Single submitter complex cortical dysplasia with other brain malformations 1
  • p.Arg282Gly No assertion criteria TUBB3-related disorder
  • p.His105Asn No assertion criteria complex cortical dysplasia with other brain malformations 1
  • p.Met300Ile No assertion criteria TUBB3-related disorder
  • p.Met388Thr No assertion criteria lissencephaly spectrum disorders
  • p.Val179Leu No assertion criteria Abnormal cerebral morphology

Conflicting classifications of pathogenicity 25

Benign 27

Benign/Likely benign 11

Likely benign 97

Uncertain significance 149