Sugi Variant

Sugi Variant/SOX17

SOX17 — 276 ClinVar variants

All ClinVar germline SOX17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 167 flagged for review →

2 Pathogenic · 6 Likely pathogenic · 10 Conflicting · 15 Benign · 5 Benign/Likely benign · 58 Likely benign · 180 Uncertain significance

Full SOX17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 167

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 7

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

Predictors lean, ClinVar uncertain 133

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

Predictors split 27

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

All SOX17 variants

Pathogenic 2

Likely pathogenic 6

Conflicting classifications of pathogenicity 10

Benign 15

Benign/Likely benign 5

Likely benign 58

Uncertain significance 180