Sugi Variant

Sugi Variant/MRTFA

MRTFA — 906 ClinVar variants

All ClinVar germline MRTFA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 480 flagged for review →

1 Pathogenic · 29 Conflicting · 11 Benign · 22 Benign/Likely benign · 323 Likely benign · 520 Uncertain significance

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

⚑ Evidence disagreements 480

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 24

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

Predictors lean, ClinVar uncertain 400

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 400

Predictors split 56

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

All MRTFA variants

Pathogenic 1

  • p.Lys823Ter No assertion criteria immunodeficiency 66

Conflicting classifications of pathogenicity 29

Benign 11

Benign/Likely benign 22

Likely benign 323

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

Uncertain significance 520

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