Sugi Variant

Sugi Variant/TMX2

TMX2 — 76 ClinVar variants

All ClinVar germline TMX2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →

2 Pathogenic · 2 Likely pathogenic · 2 Conflicting · 1 Benign · 17 Likely benign · 52 Uncertain significance

Full TMX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 46

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 lean, ClinVar uncertain 37

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

Predictors split 8

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

All TMX2 variants

Pathogenic 2

  • p.Arg53Cys No assertion criteria neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity ⚠
  • p.Gly56Arg No assertion criteria neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity ⚠

Likely pathogenic 2

  • p.Arg205Trp Single submitter neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
  • p.Asp62fs Single submitter neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity

Conflicting classifications of pathogenicity 2

  • p.Arg205Gln Single submitter neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity ⚠
  • p.Leu131fs Single submitter

Benign 1

Likely benign 17

Uncertain significance 52