Sugi Variant

Sugi Variant/TBC1D2B

TBC1D2B — 177 ClinVar variants

All ClinVar germline TBC1D2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 125 flagged for review →

5 Pathogenic · 8 Likely pathogenic · 1 Conflicting · 2 Benign · 1 Benign/Likely benign · 30 Likely benign · 130 Uncertain significance

Full TBC1D2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 125

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 103

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

Predictors split 21

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

All TBC1D2B variants

Pathogenic 5

  • p.Asn143Ter No assertion criteria neurodevelopmental disorder with seizures and gingival overgrowth
  • p.Gln494Ter No assertion criteria neurodevelopmental disorder with seizures and gingival overgrowth
  • p.Leu220fs No assertion criteria neurodevelopmental disorder with seizures and gingival overgrowth
  • p.Leu793Ter No assertion criteria neurodevelopmental disorder with seizures and gingival overgrowth
  • p.Tyr765Ter No assertion criteria neurodevelopmental disorder with seizures and gingival overgrowth

Likely pathogenic 8

  • p.Arg522fs Single submitter neurodevelopmental disorder with seizures and gingival overgrowth
  • p.Cys142fs Single submitter neurodevelopmental disorder with seizures and gingival overgrowth
  • p.Glu201Ter Single submitter TBC1D2B-related disorder
  • p.Lys497fs Single submitter neurodevelopmental disorder with seizures and gingival overgrowth
  • p.Trp672Ter Single submitter TBC1D2B-related disorder
  • p.Tyr624fs Single submitter TBC1D2B-related disorder
  • p.Arg785Ter No assertion criteria TBC1D2B-related disorder
  • p.Tyr53Ter No assertion criteria TBC1D2B-related disorder

Conflicting classifications of pathogenicity 1

Benign 2

Benign/Likely benign 1

Likely benign 30

Uncertain significance 130