Sugi Variant

Sugi Variant/INPP5E

INPP5E — 940 ClinVar variants

All ClinVar germline INPP5E variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 395 flagged for review →

28 Pathogenic · 15 Pathogenic/Likely pathogenic · 36 Likely pathogenic · 64 Conflicting · 43 Benign · 22 Benign/Likely benign · 317 Likely benign · 415 Uncertain significance

Full INPP5E gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 395

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 24

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

Predictors lean, ClinVar uncertain 293

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 293

Predictors split 76

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

All INPP5E variants

Pathogenic 28

Pathogenic/Likely pathogenic 15

  • c.937-2A>G Multiple submitters Fetal anomalies with a likely genetic cause
  • p.Arg378Cys Multiple submitters Vertebral segmentation defect
  • p.Arg435Gln Multiple submitters INPP5E-related disorder
  • p.Arg435Trp Multiple submitters INPP5E-related disorder
  • p.Arg557His Multiple submitters INPP5E-related disorder
  • p.Arg585Cys Multiple submitters Joubert syndrome and related disorders
  • p.Arg621Gln Multiple submitters Joubert syndrome and related disorders ⚠
  • p.Arg621Trp Multiple submitters Joubert syndrome 1
  • p.Cys385Tyr Multiple submitters Joubert syndrome and related disorders
  • p.Gly158_Asn159insTer Multiple submitters Joubert syndrome
  • p.Gly158fs Multiple submitters INPP5E-related disorder
  • p.Gly522Ala Multiple submitters Joubert syndrome and related disorders ⚠
  • p.Met1_Ser3del Multiple submitters Joubert syndrome
  • p.Val303Met Multiple submitters INPP5E-related disorder
  • p.Val587fs Multiple submitters INPP5E-related disorder

Likely pathogenic 36

Conflicting classifications of pathogenicity 64

Benign 43

Benign/Likely benign 22

Likely benign 317

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

Uncertain significance 415

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