Sugi Variant

Sugi Variant/TAFAZZIN

TAFAZZIN — 562 ClinVar variants

All ClinVar germline TAFAZZIN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 132 flagged for review →

43 Pathogenic · 12 Pathogenic/Likely pathogenic · 46 Likely pathogenic · 34 Conflicting · 7 Benign · 12 Benign/Likely benign · 205 Likely benign · 203 Uncertain significance

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

⚑ Evidence disagreements 132

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 9

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

Predictors lean, ClinVar uncertain 94

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

Predictors split 29

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

All TAFAZZIN variants

Pathogenic 43

Pathogenic/Likely pathogenic 12

Likely pathogenic 46

Conflicting classifications of pathogenicity 34

Benign 7

Benign/Likely benign 12

Likely benign 205

Uncertain significance 203