Sugi Variant

Sugi Variant/CDIN1

CDIN1 — 125 ClinVar variants

All ClinVar germline CDIN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →

3 Likely pathogenic · 2 Conflicting · 34 Benign · 1 Benign/Likely benign · 48 Likely benign · 37 Uncertain significance

Full CDIN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 36

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 22

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

Predictors split 12

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

All CDIN1 variants

Likely pathogenic 3

  • p.His230Pro Single submitter congenital dyserythropoietic anemia type type 1B ⚠
  • p.Leu178Gln Single submitter congenital dyserythropoietic anemia type type 1B
  • p.Tyr94Cys Single submitter congenital dyserythropoietic anemia type type 1B ⚠

Conflicting classifications of pathogenicity 2

Benign 34

Benign/Likely benign 1

Likely benign 48

Uncertain significance 37