Sugi Variant

Sugi Variant/RNF213

RNF213 — 1084 ClinVar variants

All ClinVar germline RNF213 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 297 flagged for review →

8 Pathogenic · 12 Likely pathogenic · 44 Conflicting · 142 Benign · 86 Benign/Likely benign · 397 Likely benign · 395 Uncertain significance

Full RNF213 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 297

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 5

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

Predictors agree, ClinVar conflicts 33

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

Predictors lean, ClinVar uncertain 251

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 251

Predictors split 8

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

All RNF213 variants

Pathogenic 8

Likely pathogenic 12

Conflicting classifications of pathogenicity 44

Benign 142

Benign/Likely benign 86

Likely benign 397

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

Uncertain significance 395

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