Sugi Variant

Sugi Variant/GP9

GP9 — 160 ClinVar variants

All ClinVar germline GP9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →

9 Pathogenic · 18 Likely pathogenic · 9 Conflicting · 8 Benign · 3 Benign/Likely benign · 55 Likely benign · 58 Uncertain significance

Full GP9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 58

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 4

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

Predictors lean, ClinVar uncertain 40

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

Predictors split 13

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

All GP9 variants

Pathogenic 9

Likely pathogenic 18

Conflicting classifications of pathogenicity 9

Benign 8

  • c.-124C>T Expert panel Bernard-Soulier syndrome
  • c.*38C>T Expert panel Bernard-Soulier syndrome
  • p.Ala156Thr Expert panel Bernard-Soulier syndrome
  • p.Ala6= Expert panel Bernard-Soulier syndrome
  • p.Pro123Leu Expert panel Bernard-Soulier syndrome
  • p.Thr79Ile Expert panel Bernard-Soulier syndrome
  • c.-87T>C Multiple submitters Bernard-Soulier syndrome
  • p.Leu149= Multiple submitters Bernard-Soulier syndrome

Benign/Likely benign 3

  • c.*7C>T Multiple submitters Bernard-Soulier syndrome
  • p.His41= Multiple submitters Bernard-Soulier syndrome
  • p.Thr44= Multiple submitters Bernard-Soulier syndrome

Likely benign 55

Uncertain significance 58