Sugi Variant

Sugi Variant/JPH3

JPH3 — 272 ClinVar variants

All ClinVar germline JPH3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 177 flagged for review →

1 Pathogenic · 4 Conflicting · 20 Benign · 10 Benign/Likely benign · 55 Likely benign · 182 Uncertain significance

Full JPH3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 177

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 4

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

Predictors lean, ClinVar uncertain 147

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 26

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

All JPH3 variants

Pathogenic 1

Conflicting classifications of pathogenicity 4

Benign 20

Benign/Likely benign 10

Likely benign 55

Uncertain significance 182