Sugi Variant

Sugi Variant/ATF6

ATF6 — 488 ClinVar variants

All ClinVar germline ATF6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 223 flagged for review →

27 Pathogenic · 18 Likely pathogenic · 4 Conflicting · 24 Benign · 3 Benign/Likely benign · 165 Likely benign · 247 Uncertain significance

Full ATF6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 223

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 2

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

Predictors lean, ClinVar uncertain 157

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 157

Predictors split 63

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

All ATF6 variants

Pathogenic 27

Likely pathogenic 18

Conflicting classifications of pathogenicity 4

Benign 24

Benign/Likely benign 3

Likely benign 165

Uncertain significance 247