Sugi Variant

Sugi Variant/PISD

PISD — 206 ClinVar variants

All ClinVar germline PISD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →

4 Pathogenic · 2 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 5 Conflicting · 4 Benign · 9 Benign/Likely benign · 81 Likely benign · 99 Uncertain significance

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

⚑ Evidence disagreements 95

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 69

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

Predictors split 22

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

All PISD variants

Pathogenic 4

Pathogenic/Likely pathogenic 2

Likely pathogenic 2

Conflicting classifications of pathogenicity 5

Benign 4

Benign/Likely benign 9

Likely benign 81

Uncertain significance 99