Sugi Variant

Sugi Variant/UBE3A

UBE3A — 1044 ClinVar variants

All ClinVar germline UBE3A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 377 flagged for review →

183 Pathogenic · 8 Pathogenic/Likely pathogenic · 94 Likely pathogenic · 20 Conflicting · 44 Benign · 6 Benign/Likely benign · 269 Likely benign · 420 Uncertain significance

Full UBE3A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 377

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 6

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

Predictors agree, ClinVar conflicts 11

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

Predictors lean, ClinVar uncertain 270

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 270

Predictors split 90

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

All UBE3A variants

Pathogenic 183

Pathogenic/Likely pathogenic 8

Likely pathogenic 94

Conflicting classifications of pathogenicity 20

Benign 44

Benign/Likely benign 6

Likely benign 269

Uncertain significance 420

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