Sugi Variant

Sugi Variant/TMPRSS6

TMPRSS6 — 398 ClinVar variants

All ClinVar germline TMPRSS6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 212 flagged for review →

21 Pathogenic · 4 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 22 Conflicting · 51 Benign · 13 Benign/Likely benign · 58 Likely benign · 219 Uncertain significance

Full TMPRSS6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 212

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 108

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

Predictors split 98

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

All TMPRSS6 variants

Pathogenic 21

Pathogenic/Likely pathogenic 4

Likely pathogenic 10

Conflicting classifications of pathogenicity 22

Benign 51

Benign/Likely benign 13

Likely benign 58

Uncertain significance 219