Sugi Variant

Sugi Variant/EYS

EYS — 5106 ClinVar variants

All ClinVar germline EYS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1165 flagged for review →

429 Pathogenic · 248 Pathogenic/Likely pathogenic · 356 Likely pathogenic · 214 Conflicting · 130 Benign · 64 Benign/Likely benign · 1743 Likely benign · 1922 Uncertain significance

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

⚑ Evidence disagreements 1165

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 7

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

Predictors agree, ClinVar conflicts 82

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

Predictors lean, ClinVar uncertain 1042

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 1042

Predictors split 34

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

All EYS variants

Pathogenic 429

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

Pathogenic/Likely pathogenic 248

Likely pathogenic 356

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

Conflicting classifications of pathogenicity 214

Benign 130

Benign/Likely benign 64

Likely benign 1743

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

Uncertain significance 1922

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