Sugi Variant

Sugi Variant/IFT43

IFT43 — 317 ClinVar variants

All ClinVar germline IFT43 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 87 flagged for review →

15 Pathogenic · 22 Likely pathogenic · 16 Conflicting · 20 Benign · 3 Benign/Likely benign · 131 Likely benign · 110 Uncertain significance

Full IFT43 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 87

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 6

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

Predictors lean, ClinVar uncertain 68

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

Predictors split 13

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

All IFT43 variants

Pathogenic 15

Likely pathogenic 22

Conflicting classifications of pathogenicity 16

Benign 20

Benign/Likely benign 3

  • c.147+18dup Multiple submitters cranioectodermal dysplasia 3
  • c.369-8del Multiple submitters cranioectodermal dysplasia 3
  • p.Ala162= Multiple submitters cranioectodermal dysplasia 3

Likely benign 131

Uncertain significance 110