Sugi Variant

Sugi Variant/ERMARD

ERMARD — 371 ClinVar variants

All ClinVar germline ERMARD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 173 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 16 Conflicting · 50 Benign · 9 Benign/Likely benign · 102 Likely benign · 191 Uncertain significance

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

⚑ Evidence disagreements 173

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 7

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

Predictors lean, ClinVar uncertain 108

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 57

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

All ERMARD variants

Pathogenic 1

  • p.Ile377Asn No assertion criteria periventricular nodular heterotopia 6 ⚠

Likely pathogenic 2

  • c.605+1G>A Single submitter periventricular nodular heterotopia 6
  • p.Arg93Ter Single submitter periventricular nodular heterotopia 6

Conflicting classifications of pathogenicity 16

Benign 50

Benign/Likely benign 9

Likely benign 102

Uncertain significance 191