Sugi Variant

Sugi Variant/TUBB

TUBB — 133 ClinVar variants

All ClinVar germline TUBB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →

10 Pathogenic · 5 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 5 Conflicting · 11 Benign · 1 Benign/Likely benign · 13 Likely benign · 62 Uncertain significance

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

⚑ Evidence disagreements 63

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 6

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

Predictors agree, ClinVar conflicts 4

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

Predictors lean, ClinVar uncertain 41

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

Predictors split 12

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

All TUBB variants

Pathogenic 10

  • p.Glu401Lys Multiple submitters Inborn genetic diseases
  • p.Met299Val Multiple submitters Inborn genetic diseases
  • p.Asp209Gly Single submitter complex cortical dysplasia with other brain malformations 6
  • p.Cys239Ser Single submitter
  • p.Ile210fs Single submitter TUBB3-related tubulinopathy
  • p.Pro287Ser Single submitter ⚠
  • p.Thr290Ile Single submitter complex cortical dysplasia with other brain malformations 6
  • p.Gln15Lys No assertion criteria skin creases, congenital symmetric circumferential, 1
  • p.Glu421Lys No assertion criteria complex cortical dysplasia with other brain malformations 6
  • p.Tyr222Phe No assertion criteria skin creases, congenital symmetric circumferential, 1 ⚠

Pathogenic/Likely pathogenic 5

  • p.Asn52Ser Multiple submitters complex cortical dysplasia with other brain malformations 6 ⚠
  • p.Asp327Asn Multiple submitters Inborn genetic diseases
  • p.Glu111Lys Multiple submitters complex cortical dysplasia with other brain malformations 6
  • p.Thr221Ile Multiple submitters complex cortical dysplasia with other brain malformations 6
  • p.Val353Ile Multiple submitters skin creases, congenital symmetric circumferential, 1 ⚠

Likely pathogenic 26

Conflicting classifications of pathogenicity 5

  • p.Arg121Trp Single submitter skin creases, congenital symmetric circumferential, 1 ⚠
  • p.Arg77Cys Single submitter TUBB-related disorder ⚠
  • p.Asp118Tyr Single submitter complex cortical dysplasia with other brain malformations 6 ⚠
  • p.Met321Val Single submitter Abnormal brain morphology ⚠
  • p.Pro287Leu Single submitter complex cortical dysplasia with other brain malformations 6 ⚠

Benign 11

Benign/Likely benign 1

Likely benign 13

Uncertain significance 62