Sugi Variant

Sugi Variant/MYOF

MYOF — 395 ClinVar variants

All ClinVar germline MYOF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 307 flagged for review →

1 Pathogenic · 6 Conflicting · 15 Benign · 1 Benign/Likely benign · 55 Likely benign · 317 Uncertain significance

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

⚑ Evidence disagreements 307

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 3

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

Predictors lean, ClinVar uncertain 216

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 216

Predictors split 87

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

All MYOF variants

Pathogenic 1

Conflicting classifications of pathogenicity 6

Benign 15

Benign/Likely benign 1

Likely benign 55

Uncertain significance 317

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