Sugi Variant

Sugi Variant/TMEM237

TMEM237 — 516 ClinVar variants

All ClinVar germline TMEM237 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 170 flagged for review →

19 Pathogenic · 8 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 25 Conflicting · 31 Benign · 10 Benign/Likely benign · 155 Likely benign · 251 Uncertain significance

Full TMEM237 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 170

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 8

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

Predictors lean, ClinVar uncertain 142

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

Predictors split 20

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

All TMEM237 variants

Pathogenic 19

Pathogenic/Likely pathogenic 8

  • c.553+1G>A Multiple submitters Joubert syndrome and related disorders
  • c.677+1G>A Multiple submitters Joubert syndrome 14
  • c.869+1G>A Multiple submitters TMEM237-related disorder
  • p.Arg301Ter Multiple submitters Joubert syndrome 14
  • p.Arg59Ter Multiple submitters Joubert syndrome 14
  • p.Ile202fs Multiple submitters TMEM237-related disorder
  • p.Pro21fs Multiple submitters Joubert syndrome 14
  • p.Trp242Ter Multiple submitters Joubert syndrome and related disorders

Likely pathogenic 17

Conflicting classifications of pathogenicity 25

Benign 31

Benign/Likely benign 10

Likely benign 155

Uncertain significance 251