Sugi Variant

Sugi Variant/LRP2

LRP2 — 5051 ClinVar variants

All ClinVar germline LRP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1069 flagged for review →

99 Pathogenic · 12 Pathogenic/Likely pathogenic · 103 Likely pathogenic · 261 Conflicting · 243 Benign · 106 Benign/Likely benign · 2257 Likely benign · 1970 Uncertain significance

Full LRP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1069

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 75

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

Predicted LoF vs a conflicting call 3

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 741

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 741

Predictors split 249

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 249

All LRP2 variants

Pathogenic 99

Pathogenic/Likely pathogenic 12

Likely pathogenic 103

Conflicting classifications of pathogenicity 261

Benign 243

Benign/Likely benign 106

Likely benign 2257

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

Uncertain significance 1970

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