Sugi Variant

Sugi Variant/CSDE1

CSDE1 — 177 ClinVar variants

All ClinVar germline CSDE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 112 flagged for review →

9 Pathogenic · 9 Likely pathogenic · 4 Benign · 2 Benign/Likely benign · 23 Likely benign · 130 Uncertain significance

Full CSDE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 112

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 79

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

Predictors split 32

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

All CSDE1 variants

Pathogenic 9

Likely pathogenic 9

Benign 4

Benign/Likely benign 2

Likely benign 23

Uncertain significance 130