Sugi Variant

Sugi Variant/HIVEP2

HIVEP2 — 1482 ClinVar variants

All ClinVar germline HIVEP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 703 flagged for review →

54 Pathogenic · 29 Likely pathogenic · 76 Conflicting · 145 Benign · 51 Benign/Likely benign · 462 Likely benign · 665 Uncertain significance

Full HIVEP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 703

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 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 68

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 496

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 496

Predictors split 136

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

All HIVEP2 variants

Pathogenic 54

Likely pathogenic 29

  • p.Thr1928fs Multiple submitters HIVEP2-related disorder
  • c.5188-1del Single submitter intellectual disability, autosomal dominant 43
  • c.6516+1G>C Single submitter Inborn genetic diseases
  • p.Ala1064fs Single submitter
  • p.Ala1952fs Single submitter intellectual disability, autosomal dominant 43
  • p.Asp2189fs Single submitter intellectual disability, autosomal dominant 43
  • p.Asp632Asn Single submitter ⚠
  • p.Cys1855fs Single submitter intellectual disability, autosomal dominant 43
  • p.Gln1164Ter Single submitter intellectual disability, autosomal dominant 43
  • p.Gln1227fs Single submitter intellectual disability, autosomal dominant 43
  • p.Gln172Ter Single submitter intellectual disability, autosomal dominant 43
  • p.Glu408Lys Single submitter HIVEP2-related disorder ⚠
  • p.Gly1346Ter Single submitter intellectual disability
  • p.Gly1793fs Single submitter HIVEP2-related disorder
  • p.Gly791fs Single submitter intellectual disability, autosomal dominant 43
  • p.His1821Asn Single submitter Inborn genetic diseases
  • p.His975fs Single submitter intellectual disability, autosomal dominant 43
  • p.Ile2226fs Single submitter intellectual disability, autosomal dominant 43
  • p.Leu1151fs Single submitter intellectual disability, autosomal dominant 43
  • p.Lys2394Ter Single submitter intellectual disability, autosomal dominant 43
  • p.Phe39fs Single submitter intellectual disability, autosomal dominant 43
  • p.Pro1552fs Single submitter intellectual disability, autosomal dominant 43
  • p.Pro1929fs Single submitter HIVEP2-related disorder
  • p.Pro2206fs Single submitter intellectual disability
  • p.Ser1148Ter Single submitter intellectual disability, autosomal dominant 43
  • p.Tyr1279Ter Single submitter HIVEP2-related disorder
  • p.Tyr1705fs Single submitter intellectual disability, autosomal dominant 43
  • c.5620+1GT[2] No assertion criteria intellectual disability, autosomal dominant 43
  • p.Thr555fs No assertion criteria HP:0000750; HP:0001263

Conflicting classifications of pathogenicity 76

Benign 145

Benign/Likely benign 51

Likely benign 462

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

Uncertain significance 665

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