Sugi Variant

Sugi Variant/TUBA4A

TUBA4A — 129 ClinVar variants

All ClinVar germline TUBA4A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →

19 Pathogenic · 11 Likely pathogenic · 2 Conflicting · 12 Benign · 2 Benign/Likely benign · 46 Likely benign · 37 Uncertain significance

Full TUBA4A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 32

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 agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 25

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

Predictors split 6

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

All TUBA4A variants

Pathogenic 19

  • p.Leu227Phe Multiple submitters Myo-tubulinopathy
  • p.Glu254Ala Single submitter Myo-tubulinopathy
  • p.Glu254Gly Single submitter Myo-tubulinopathy
  • p.Glu254Lys Single submitter Myo-tubulinopathy
  • p.Gly350Val Single submitter Myo-tubulinopathy
  • p.Gly354Asp Single submitter Myo-tubulinopathy
  • p.Ser241Phe Single submitter Myo-tubulinopathy
  • p.Thr179Ile Single submitter Myo-tubulinopathy
  • p.Arg229Cys No assertion criteria oocyte/zygote/embryo maturation arrest 23
  • p.Arg320His No assertion criteria amyotrophic lateral sclerosis type 22
  • p.Arg64fs No assertion criteria amyotrophic lateral sclerosis type 22
  • p.Cys347Tyr No assertion criteria oocyte/zygote/embryo maturation arrest 23
  • p.Glu77Lys No assertion criteria oocyte/zygote/embryo maturation arrest 23
  • p.Leu286Pro No assertion criteria oocyte/zygote/embryo maturation arrest 23
  • p.Pro173Arg No assertion criteria spastic ataxia 11, autosomal dominant
  • p.Pro173Ser No assertion criteria spastic ataxia 11, autosomal dominant
  • p.Thr145Pro No assertion criteria amyotrophic lateral sclerosis type 22
  • p.Trp407Ter No assertion criteria amyotrophic lateral sclerosis type 22
  • p.Val303Leu No assertion criteria oocyte/zygote/embryo maturation arrest 23 ⚠

Likely pathogenic 11

Conflicting classifications of pathogenicity 2

Benign 12

Benign/Likely benign 2

Likely benign 46

Uncertain significance 37