Sugi Variant

Sugi Variant/CACHD1

CACHD1 — 167 ClinVar variants

All ClinVar germline CACHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 156 flagged for review →

7 Pathogenic · 4 Likely benign · 156 Uncertain significance

Full CACHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 156

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 lean, ClinVar uncertain 114

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

Predictors split 42

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

All CACHD1 variants

Pathogenic 7

  • c.1783-1G>A No assertion criteria DAVIS-WELLS SYNDROME
  • c.2387+1G>A No assertion criteria DAVIS-WELLS SYNDROME
  • c.261+2T>C No assertion criteria DAVIS-WELLS SYNDROME
  • p.Arg154Ter No assertion criteria DAVIS-WELLS SYNDROME
  • p.Arg93Ter No assertion criteria DAVIS-WELLS SYNDROME
  • p.Ile217fs No assertion criteria DAVIS-WELLS SYNDROME
  • p.Ile92fs No assertion criteria DAVIS-WELLS SYNDROME

Likely benign 4

Uncertain significance 156