Sugi Variant

Sugi Variant/IFT27

IFT27 — 192 ClinVar variants

All ClinVar germline IFT27 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →

6 Pathogenic · 4 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 11 Conflicting · 6 Benign · 2 Benign/Likely benign · 84 Likely benign · 78 Uncertain significance

Full IFT27 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 71

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 53

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 IFT27 variants

Pathogenic 6

Pathogenic/Likely pathogenic 4

  • c.352+1G>T Multiple submitters IFT27-related disorder
  • p.Arg131Ter Multiple submitters IFT27-related disorders
  • p.Lys68fs Multiple submitters IFT27-related disorders
  • p.Met42fs Multiple submitters IFT27-related disorders

Likely pathogenic 1

Conflicting classifications of pathogenicity 11

Benign 6

Benign/Likely benign 2

Likely benign 84

Uncertain significance 78