Sugi Variant

Sugi Variant/ALAS2

ALAS2 — 371 ClinVar variants

All ClinVar germline ALAS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 161 flagged for review →

29 Pathogenic · 2 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 35 Conflicting · 31 Benign · 12 Benign/Likely benign · 104 Likely benign · 140 Uncertain significance

Full ALAS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 161

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 8

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 71

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

Predictors split 71

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

All ALAS2 variants

Pathogenic 29

Pathogenic/Likely pathogenic 2

Likely pathogenic 18

Conflicting classifications of pathogenicity 35

Benign 31

Benign/Likely benign 12

Likely benign 104

Uncertain significance 140