Sugi Variant

Sugi Variant/HARS2

HARS2 — 292 ClinVar variants

All ClinVar germline HARS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →

7 Pathogenic · 4 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 17 Conflicting · 10 Benign · 4 Benign/Likely benign · 83 Likely benign · 150 Uncertain significance

Full HARS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 139

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 4

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

Predictors agree, ClinVar conflicts 5

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

Predictors lean, ClinVar uncertain 93

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

Predictors split 37

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

All HARS2 variants

Pathogenic 7

Pathogenic/Likely pathogenic 4

Likely pathogenic 17

Conflicting classifications of pathogenicity 17

Benign 10

Benign/Likely benign 4

Likely benign 83

Uncertain significance 150