Sugi Variant

Sugi Variant/PLOD2

PLOD2 — 509 ClinVar variants

All ClinVar germline PLOD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 178 flagged for review →

17 Pathogenic · 5 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 20 Conflicting · 60 Benign · 14 Benign/Likely benign · 159 Likely benign · 219 Uncertain significance

Full PLOD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 178

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 14

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

Predictors lean, ClinVar uncertain 136

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

Predictors split 28

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

All PLOD2 variants

Pathogenic 17

Pathogenic/Likely pathogenic 5

Likely pathogenic 15

Conflicting classifications of pathogenicity 20

Benign 60

Benign/Likely benign 14

Likely benign 159

Uncertain significance 219