Sugi Variant

Sugi Variant/EPPK1

EPPK1 — 592 ClinVar variants

All ClinVar germline EPPK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 241 flagged for review →

62 Benign · 1 Benign/Likely benign · 176 Likely benign · 353 Uncertain significance

Full EPPK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 241

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 lean, ClinVar uncertain 231

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 231

Predictors split 10

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

All EPPK1 variants

Benign 62

Benign/Likely benign 1

Likely benign 176

Uncertain significance 353

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