Sugi Variant

Sugi Variant/TMPRSS9

TMPRSS9 — 289 ClinVar variants

All ClinVar germline TMPRSS9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 239 flagged for review →

2 Likely pathogenic · 1 Conflicting · 5 Benign · 1 Benign/Likely benign · 32 Likely benign · 248 Uncertain significance

Full TMPRSS9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 239

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 192

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 192

Predictors split 46

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

All TMPRSS9 variants

Likely pathogenic 2

  • p.Leu317fs Single submitter TMPRSS9-related neurodevelopmental disorder
  • p.Ser399Ter Single submitter Global developmental delay

Conflicting classifications of pathogenicity 1

Benign 5

Benign/Likely benign 1

Likely benign 32

Uncertain significance 248