Sugi Variant

Sugi Variant/EHHADH

EHHADH — 278 ClinVar variants

All ClinVar germline EHHADH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 159 flagged for review →

1 Likely pathogenic · 23 Conflicting · 31 Benign · 6 Benign/Likely benign · 39 Likely benign · 178 Uncertain significance

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

⚑ Evidence disagreements 159

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 11

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

Predictors lean, ClinVar uncertain 104

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

Predictors split 43

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

All EHHADH variants

Likely pathogenic 1

Conflicting classifications of pathogenicity 23

Benign 31

Benign/Likely benign 6

Likely benign 39

Uncertain significance 178