Sugi Variant

Sugi Variant/KIF23

KIF23 — 417 ClinVar variants

All ClinVar germline KIF23 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 212 flagged for review →

1 Pathogenic · 3 Likely pathogenic · 16 Conflicting · 20 Benign · 18 Benign/Likely benign · 130 Likely benign · 229 Uncertain significance

Full KIF23 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 212

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 11

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

Predictors lean, ClinVar uncertain 161

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 161

Predictors split 39

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

All KIF23 variants

Pathogenic 1

  • p.Leu959fs No assertion criteria congenital dyserythropoietic anemia type 3

Likely pathogenic 3

  • p.Gly956Arg Single submitter congenital dyserythropoietic anemia type 3 ⚠
  • p.Leu266His Single submitter microcephaly
  • p.Pro930Arg Single submitter congenital dyserythropoietic anemia type 3 ⚠

Conflicting classifications of pathogenicity 16

Benign 20

Benign/Likely benign 18

Likely benign 130

Uncertain significance 229