Sugi Variant

Sugi Variant/IFT81

IFT81 — 527 ClinVar variants

All ClinVar germline IFT81 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 216 flagged for review →

23 Pathogenic · 12 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 11 Conflicting · 19 Benign · 10 Benign/Likely benign · 188 Likely benign · 247 Uncertain significance

Full IFT81 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 216

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 agree, ClinVar conflicts 8

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

Predictors lean, ClinVar uncertain 183

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 183

Predictors split 23

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

All IFT81 variants

Pathogenic 23

Pathogenic/Likely pathogenic 12

  • c.1717-2A>G Multiple submitters short-rib thoracic dysplasia 19 with or without polydactyly
  • c.249-1G>A Multiple submitters IFT81-related disorders
  • p.Ala116fs Multiple submitters IFT81-related disorders
  • p.Arg213Ter Multiple submitters IFT81-related disorders
  • p.Arg218fs Multiple submitters IFT81-related disorders
  • p.Arg399Ter Multiple submitters IFT81-related disorders
  • p.Arg481Ter Multiple submitters IFT81-related disorders
  • p.Arg512Ter Multiple submitters short-rib thoracic dysplasia 19 with or without polydactyly
  • p.Glu301fs Multiple submitters IFT81-related disorders
  • p.Leu122Ter Multiple submitters IFT81-related disorders
  • p.Leu29Phe Multiple submitters short-rib thoracic dysplasia 19 with or without polydactyly ⚠
  • p.Lys403fs Multiple submitters IFT81-related disorders

Likely pathogenic 17

Conflicting classifications of pathogenicity 11

Benign 19

Benign/Likely benign 10

Likely benign 188

Uncertain significance 247