Sugi Variant

Sugi Variant/MYSM1

MYSM1 — 509 ClinVar variants

All ClinVar germline MYSM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 203 flagged for review →

26 Pathogenic · 8 Likely pathogenic · 12 Conflicting · 26 Benign · 6 Benign/Likely benign · 218 Likely benign · 213 Uncertain significance

Full MYSM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 203

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 9

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

Predictors lean, ClinVar uncertain 164

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 164

Predictors split 30

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

All MYSM1 variants

Pathogenic 26

Likely pathogenic 8

Conflicting classifications of pathogenicity 12

Benign 26

Benign/Likely benign 6

Likely benign 218

Uncertain significance 213