Sugi Variant

Sugi Variant/DHCR24

DHCR24 — 358 ClinVar variants

All ClinVar germline DHCR24 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 112 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 16 Conflicting · 40 Benign · 5 Benign/Likely benign · 144 Likely benign · 147 Uncertain significance

Full DHCR24 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 112

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 4

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

Predictors lean, ClinVar uncertain 59

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

Predictors split 49

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

All DHCR24 variants

Pathogenic 1

Pathogenic/Likely pathogenic 1

  • c.1218+1G>A Multiple submitters non-immune hydrops fetalis

Likely pathogenic 4

Conflicting classifications of pathogenicity 16

Benign 40

Benign/Likely benign 5

Likely benign 144

Uncertain significance 147