Sugi Variant

Sugi Variant/DCHS1

DCHS1 — 2576 ClinVar variants

All ClinVar germline DCHS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1193 flagged for review →

30 Pathogenic · 2 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 86 Conflicting · 68 Benign · 34 Benign/Likely benign · 780 Likely benign · 1568 Uncertain significance

Full DCHS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1193

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 67

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

Predictors lean, ClinVar uncertain 1072

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 1072

Predictors split 53

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

All DCHS1 variants

Pathogenic 30

Pathogenic/Likely pathogenic 2

Likely pathogenic 8

Conflicting classifications of pathogenicity 86

Benign 68

Benign/Likely benign 34

Likely benign 780

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

Uncertain significance 1568

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