Sugi Variant

Sugi Variant/AP4E1

AP4E1 — 656 ClinVar variants

All ClinVar germline AP4E1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 317 flagged for review →

13 Pathogenic · 4 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 24 Conflicting · 49 Benign · 12 Benign/Likely benign · 199 Likely benign · 339 Uncertain significance

Full AP4E1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 317

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 252

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 252

Predictors split 51

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

All AP4E1 variants

Pathogenic 13

Pathogenic/Likely pathogenic 4

Likely pathogenic 16

Conflicting classifications of pathogenicity 24

Benign 49

Benign/Likely benign 12

Likely benign 199

Uncertain significance 339

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