Sugi Variant

Sugi Variant/MYO7A

MYO7A — 4913 ClinVar variants

All ClinVar germline MYO7A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1551 flagged for review →

348 Pathogenic · 165 Pathogenic/Likely pathogenic · 351 Likely pathogenic · 368 Conflicting · 159 Benign · 45 Benign/Likely benign · 1850 Likely benign · 1627 Uncertain significance

Full MYO7A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1551

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 4

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 142

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

Predictors lean, ClinVar uncertain 919

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 919

Predictors split 486

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 486

All MYO7A variants

Pathogenic 348

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

Pathogenic/Likely pathogenic 165

Likely pathogenic 351

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

Conflicting classifications of pathogenicity 368

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

Benign 159

Benign/Likely benign 45

Likely benign 1850

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

Uncertain significance 1627

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