Sugi Variant

Sugi Variant/ATAD1

ATAD1 — 207 ClinVar variants

All ClinVar germline ATAD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →

1 Pathogenic · 2 Pathogenic/Likely pathogenic · 3 Benign · 1 Benign/Likely benign · 108 Likely benign · 92 Uncertain significance

Full ATAD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 71

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 lean, ClinVar uncertain 49

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

Predictors split 22

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

All ATAD1 variants

Pathogenic 1

Pathogenic/Likely pathogenic 2

Benign 3

Benign/Likely benign 1

  • p.Leu219= Multiple submitters hyperekplexia 4

Likely benign 108

Uncertain significance 92