Sugi Variant

Sugi Variant/A2ML1

A2ML1 — 1922 ClinVar variants

All ClinVar germline A2ML1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 916 flagged for review →

1 Likely pathogenic · 85 Conflicting · 192 Benign · 54 Benign/Likely benign · 573 Likely benign · 1017 Uncertain significance

Full A2ML1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 916

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 agree, ClinVar conflicts 42

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

Predictors lean, ClinVar uncertain 381

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 381

Predictors split 493

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 493

All A2ML1 variants

Likely pathogenic 1

  • p.Gln4Ter Single submitter otitis media, susceptibility to

Conflicting classifications of pathogenicity 85

Benign 192

Benign/Likely benign 54

Likely benign 573

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 1017

Showing the top 300 by review status; the full set is in the sitemap.