Sugi Variant

Sugi Variant/IL17RA

IL17RA — 971 ClinVar variants

All ClinVar germline IL17RA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 389 flagged for review →

15 Pathogenic · 1 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 43 Conflicting · 59 Benign · 17 Benign/Likely benign · 321 Likely benign · 499 Uncertain significance

Full IL17RA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 389

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 22

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

Predictors lean, ClinVar uncertain 317

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 317

Predictors split 50

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

All IL17RA variants

Pathogenic 15

  • p.Arg218fs Single submitter immunodeficiency 51
  • p.Arg263Ter Single submitter immunodeficiency 51
  • p.Cys57fs Single submitter immunodeficiency 51
  • p.Ile78fs Single submitter immunodeficiency 51
  • p.Leu18fs Single submitter immunodeficiency 51
  • p.Ser236fs Single submitter immunodeficiency 51
  • p.Ser72fs Single submitter immunodeficiency 51
  • p.Thr228fs Single submitter immunodeficiency 51
  • p.Thr69fs Single submitter immunodeficiency 51
  • p.Trp62Ter Single submitter immunodeficiency 51
  • p.Asn440fs No assertion criteria immunodeficiency 51
  • p.Asp387Asn No assertion criteria immunodeficiency 51
  • p.Gln284Ter No assertion criteria immunodeficiency 51
  • p.Leu90fs No assertion criteria immunodeficiency 51
  • p.Pro257fs No assertion criteria immunodeficiency 51

Pathogenic/Likely pathogenic 1

  • p.Arg66Ter Multiple submitters immunodeficiency 51

Likely pathogenic 16

Conflicting classifications of pathogenicity 43

Benign 59

Benign/Likely benign 17

  • c.138+12C>T Multiple submitters immunodeficiency 51
  • c.424-12C>T Multiple submitters immunodeficiency 51
  • c.551-9G>T Multiple submitters immunodeficiency 51
  • c.762+20C>T Multiple submitters immunodeficiency 51
  • c.931+7del Multiple submitters immunodeficiency 51
  • c.944-16G>A Multiple submitters immunodeficiency 51
  • c.-8G>C Multiple submitters immunodeficiency 51
  • p.Arg278His Multiple submitters immunodeficiency 51
  • p.Asp510= Multiple submitters immunodeficiency 51
  • p.Asp583His Multiple submitters immunodeficiency 51
  • p.Gly563= Multiple submitters immunodeficiency 51
  • p.His297Tyr Multiple submitters immunodeficiency 51
  • p.Pro255= Multiple submitters immunodeficiency 51
  • p.Pro285= Multiple submitters immunodeficiency 51
  • p.Pro372= Multiple submitters immunodeficiency 51
  • p.Pro802= Multiple submitters immunodeficiency 51
  • p.Pro830= Multiple submitters immunodeficiency 51

Likely benign 321

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 499

Showing the top 300 by review status; the full set is in the sitemap.