Sugi Variant

Sugi Variant/PAPPA2

PAPPA2 — 293 ClinVar variants

All ClinVar germline PAPPA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 225 flagged for review →

9 Pathogenic · 3 Likely pathogenic · 4 Conflicting · 5 Benign · 12 Benign/Likely benign · 32 Likely benign · 228 Uncertain significance

Full PAPPA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 225

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 4

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

Predictors lean, ClinVar uncertain 191

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 191

Predictors split 30

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

All PAPPA2 variants

Pathogenic 9

Likely pathogenic 3

Conflicting classifications of pathogenicity 4

Benign 5

Benign/Likely benign 12

Likely benign 32

Uncertain significance 228