Sugi Variant

Sugi Variant/EGLN1

EGLN1 — 1178 ClinVar variants

All ClinVar germline EGLN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 620 flagged for review →

12 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 45 Conflicting · 54 Benign · 12 Benign/Likely benign · 358 Likely benign · 693 Uncertain significance

Full EGLN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 620

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 35

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

Predictors lean, ClinVar uncertain 472

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 472

Predictors split 113

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

All EGLN1 variants

Pathogenic 12

  • p.Cys58Ter Single submitter erythrocytosis, familial, 3
  • p.Gln221Ter Single submitter EGLN1-related disorder
  • p.Gly349fs Single submitter erythrocytosis, familial, 3
  • p.Pro165fs Single submitter erythrocytosis, familial, 3
  • p.Pro378fs Single submitter erythrocytosis, familial, 3
  • p.Ser125fs Single submitter erythrocytosis, familial, 3
  • p.Ser154Ter Single submitter erythrocytosis, familial, 3
  • p.Trp258Ter Single submitter erythrocytosis, familial, 3
  • p.Tyr380fs Single submitter erythrocytosis, familial, 3
  • p.Val338fs Single submitter erythrocytosis, familial, 3
  • p.Arg371His No assertion criteria erythrocytosis, familial, 3
  • p.His374Arg No assertion criteria erythrocytosis, familial, 3

Pathogenic/Likely pathogenic 1

  • p.Ser39fs Multiple submitters erythrocytosis, familial, 3

Likely pathogenic 3

Conflicting classifications of pathogenicity 45

Benign 54

Benign/Likely benign 12

  • c.1217-10del Multiple submitters
  • c.891+17G>C Multiple submitters erythrocytosis, familial, 3
  • p.Arg371= Multiple submitters erythrocytosis, familial, 3
  • p.Arg94Gly Multiple submitters erythrocytosis, familial, 3
  • p.Asp106= Multiple submitters erythrocytosis, familial, 3
  • p.Asp424= Multiple submitters erythrocytosis, familial, 3
  • p.Asp4Glu Multiple submitters erythrocytosis, familial, 3
  • p.Cys127Ser Multiple submitters erythrocytosis, familial, 3
  • p.Gln157His Multiple submitters erythrocytosis, familial, 3
  • p.Lys159= Multiple submitters erythrocytosis, familial, 3
  • p.Phe40= Multiple submitters erythrocytosis, familial, 3
  • p.Thr308= Multiple submitters erythrocytosis, familial, 3

Likely benign 358

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

Uncertain significance 693

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