Sugi Variant

Sugi Variant/SEPTIN9

SEPTIN9 — 750 ClinVar variants

All ClinVar germline SEPTIN9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 270 flagged for review →

3 Pathogenic · 38 Conflicting · 108 Benign · 40 Benign/Likely benign · 235 Likely benign · 326 Uncertain significance

Full SEPTIN9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 270

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 23

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

Predictors lean, ClinVar uncertain 194

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 194

Predictors split 53

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

All SEPTIN9 variants

Pathogenic 3

Conflicting classifications of pathogenicity 38

Benign 108

Benign/Likely benign 40

Likely benign 235

Uncertain significance 326

Showing the top 300 by review status; the full set is in the sitemap.