Sugi Variant

Sugi Variant/GP6

GP6 — 342 ClinVar variants

All ClinVar germline GP6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →

12 Pathogenic · 2 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 8 Conflicting · 46 Benign · 9 Benign/Likely benign · 116 Likely benign · 144 Uncertain significance

Full GP6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 68

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 3

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

Predictors lean, ClinVar uncertain 49

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

Predictors split 16

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

All GP6 variants

Pathogenic 12

Pathogenic/Likely pathogenic 2

  • p.Asn236fs Multiple submitters platelet-type bleeding disorder 11
  • p.Gln119fs Multiple submitters platelet-type bleeding disorder 11

Likely pathogenic 5

Conflicting classifications of pathogenicity 8

Benign 46

Benign/Likely benign 9

Likely benign 116

Uncertain significance 144