Sugi Variant

Sugi Variant/TSPAN12

TSPAN12 — 317 ClinVar variants

All ClinVar germline TSPAN12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 126 flagged for review →

32 Pathogenic · 3 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 14 Conflicting · 22 Benign · 6 Benign/Likely benign · 70 Likely benign · 158 Uncertain significance

Full TSPAN12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 126

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 6

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

Predictors lean, ClinVar uncertain 88

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

Predictors split 32

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

All TSPAN12 variants

Pathogenic 32

Pathogenic/Likely pathogenic 3

  • p.Cys189Tyr Multiple submitters TSPAN12-related disorder
  • p.Gln154fs Multiple submitters TSPAN12-related disorder
  • p.Tyr138Cys Multiple submitters exudative vitreoretinopathy 5

Likely pathogenic 12

Conflicting classifications of pathogenicity 14

Benign 22

Benign/Likely benign 6

Likely benign 70

Uncertain significance 158