Sugi Variant

Sugi Variant/CASZ1

CASZ1 — 645 ClinVar variants

All ClinVar germline CASZ1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 348 flagged for review →

3 Pathogenic · 3 Likely pathogenic · 13 Conflicting · 76 Benign · 15 Benign/Likely benign · 175 Likely benign · 360 Uncertain significance

Full CASZ1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 348

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 agree, ClinVar conflicts 6

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

Predictors lean, ClinVar uncertain 193

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 193

Predictors split 148

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

All CASZ1 variants

Pathogenic 3

Likely pathogenic 3

Conflicting classifications of pathogenicity 13

Benign 76

Benign/Likely benign 15

Likely benign 175

Uncertain significance 360

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