Sugi Variant

Sugi Variant/TUBB2B

TUBB2B — 254 ClinVar variants

All ClinVar germline TUBB2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →

20 Pathogenic · 4 Pathogenic/Likely pathogenic · 52 Likely pathogenic · 19 Conflicting · 7 Benign · 5 Benign/Likely benign · 56 Likely benign · 91 Uncertain significance

Full TUBB2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 98

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.

Predictors agree, ClinVar conflicts 14

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

Predictors lean, ClinVar uncertain 72

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

Predictors split 11

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

All TUBB2B variants

Pathogenic 20

  • p.Arg2Ser Multiple submitters Inborn genetic diseases
  • p.Arg380Cys Multiple submitters complex cortical dysplasia with other brain malformations 7
  • p.Pro259Leu Multiple submitters bilateral perisylvian polymicrogyria
  • p.Arg282Gly Single submitter
  • p.Arg2Cys Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Arg391Cys Single submitter
  • p.Cys211Phe Single submitter
  • p.Glu421Lys Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Gly244Ser Single submitter
  • p.Gly369Val Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Gly96Glu Single submitter
  • p.Ile345Phe Single submitter
  • p.Leu228Pro Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Lys324Asn Single submitter
  • p.Ser278Gly Single submitter
  • p.Trp397Arg Single submitter
  • p.Asp417Asn No assertion criteria complex cortical dysplasia with other brain malformations 7
  • p.Cys239Phe No assertion criteria complex cortical dysplasia with other brain malformations 7
  • p.Phe265Leu No assertion criteria complex cortical dysplasia with other brain malformations 7
  • p.Ser172Pro No assertion criteria complex cortical dysplasia with other brain malformations 7

Pathogenic/Likely pathogenic 4

  • p.Arg380His Multiple submitters TUBB2B-related disorder
  • p.Glu410Lys Multiple submitters tubulinopathy
  • p.Pro173Arg Multiple submitters complex cortical dysplasia with other brain malformations 7
  • p.Pro357Leu Multiple submitters complex cortical dysplasia with other brain malformations 7

Likely pathogenic 52

  • p.Ala302Thr Multiple submitters
  • p.Arg2His Multiple submitters TUBB2B-related disorder
  • p.Arg380Leu Multiple submitters complex cortical dysplasia with other brain malformations 7
  • p.Cys303Tyr Multiple submitters complex cortical dysplasia with other brain malformations 7
  • p.Gln11Leu Multiple submitters TUBB2B-related disorder
  • p.Gln291Lys Multiple submitters complex cortical dysplasia with other brain malformations 7
  • p.Ala97Ser Single submitter TUBB2B-related disorder
  • p.Arg156Gln Single submitter
  • p.Arg213Pro Single submitter
  • p.Arg241His Single submitter
  • p.Arg251Ser Single submitter
  • p.Arg282Pro Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Arg318Gln Single submitter
  • p.Arg318Gly Single submitter
  • p.Asn204Ile Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Asn298Ile Single submitter
  • p.Asp209Asn Single submitter
  • p.Asp224Tyr Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Cys201Phe Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Cys211Tyr Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Gln11Arg Single submitter TUBB2B-related disorder
  • p.Gln11His Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Gln15Ter Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Gln384Lys Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Gly71Asp Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Ile202Thr Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Ile210Asn Single submitter
  • p.Ile210Thr Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Ile345Asn Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Leu117Pro Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Leu139Pro Single submitter tubulinopathy
  • p.Leu225Phe Single submitter
  • p.Leu289Phe Single submitter TUBB2B-related disorder
  • p.Lys19Gln Single submitter
  • p.Lys19Glu Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Lys216Glu Single submitter
  • p.Met170Ile Single submitter ⚠
  • p.Met388Leu Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Phe81Leu Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Ser172Leu Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Ser176Pro Single submitter Inborn genetic diseases
  • p.Ser275Gly Single submitter
  • p.Ser322Phe Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Ser75Leu Single submitter
  • p.Tyr183His Single submitter
  • p.Tyr208Asn Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Val180Ala Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Val49Ile Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Val60Phe Single submitter
  • p.Arg380Pro No assertion criteria TUBB2B-related disorder
  • p.Asn100Tyr No assertion criteria lissencephaly spectrum disorders
  • p.Glu69Gln No assertion criteria

Conflicting classifications of pathogenicity 19

  • p.Ala248Val Single submitter ⚠
  • p.Arg391His Single submitter complex cortical dysplasia with other brain malformations 7 ⚠
  • p.Cys201Ser Single submitter Inborn genetic diseases ⚠
  • p.Gln15Lys Single submitter complex cortical dysplasia with other brain malformations 7 ⚠
  • p.Gln291Pro Single submitter TUBB2B-related disorder ⚠
  • p.Glu437Gln Single submitter ⚠
  • p.Glu444Lys Single submitter complex cortical dysplasia with other brain malformations ⚠
  • p.Gly141Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly142Ser Single submitter ⚠
  • p.Gly235Arg Single submitter complex cortical dysplasia with other brain malformations 7 ⚠
  • p.Gly277Asp Single submitter complex cortical dysplasia with other brain malformations 7 ⚠
  • p.Gly98Arg Single submitter TUBB2B-related disorder ⚠
  • p.His396Gln Single submitter complex cortical dysplasia with other brain malformations 7 ⚠
  • p.Pro243Leu Single submitter complex cortical dysplasia with other brain malformations 7 ⚠
  • p.Thr166= Single submitter complex cortical dysplasia with other brain malformations 7
  • p.Thr178Met Single submitter Inborn genetic diseases ⚠
  • p.Thr312Met Single submitter ⚠
  • p.Val175Met Single submitter TUBB2B-related disorder ⚠
  • p.Asn256Ser No assertion criteria complex cortical dysplasia with other brain malformations 7 ⚠

Benign 7

Benign/Likely benign 5

Likely benign 56

Uncertain significance 91