Sugi Variant

Sugi Variant/CISD2

CISD2 — 80 ClinVar variants

All ClinVar germline CISD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →

3 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 3 Benign · 3 Benign/Likely benign · 37 Likely benign · 32 Uncertain significance

Full CISD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 29

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 1

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

Predictors lean, ClinVar uncertain 11

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

Predictors split 17

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

All CISD2 variants

Pathogenic 3

Likely pathogenic 1

Conflicting classifications of pathogenicity 1

Benign 3

Benign/Likely benign 3

Likely benign 37

Uncertain significance 32