Sugi Variant

Sugi Variant/SEC24D

SEC24D — 614 ClinVar variants

All ClinVar germline SEC24D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 232 flagged for review →

25 Pathogenic · 2 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 9 Conflicting · 61 Benign · 18 Benign/Likely benign · 237 Likely benign · 244 Uncertain significance

Full SEC24D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 232

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 5

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

Predictors lean, ClinVar uncertain 182

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 182

Predictors split 45

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

All SEC24D variants

Pathogenic 25

Pathogenic/Likely pathogenic 2

  • p.Arg993Ter Multiple submitters SEC24D-related disorder
  • p.Val90fs Multiple submitters Cole-Carpenter syndrome 2

Likely pathogenic 18

Conflicting classifications of pathogenicity 9

Benign 61

Benign/Likely benign 18

Likely benign 237

Uncertain significance 244