Sugi Variant

Sugi Variant/EPHB4

EPHB4 — 1060 ClinVar variants

All ClinVar germline EPHB4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 513 flagged for review →

63 Pathogenic · 12 Pathogenic/Likely pathogenic · 51 Likely pathogenic · 60 Conflicting · 54 Benign · 29 Benign/Likely benign · 354 Likely benign · 437 Uncertain significance

Full EPHB4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 513

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 34

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

Predictors lean, ClinVar uncertain 248

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 248

Predictors split 231

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 231

All EPHB4 variants

Pathogenic 63

Pathogenic/Likely pathogenic 12

  • c.1423-6G>A Multiple submitters lymphatic malformation 1
  • c.2484+1G>A Multiple submitters capillary malformation-arteriovenous malformation 2
  • p.Arg269Ter Multiple submitters
  • p.Arg365Ter Multiple submitters lymphatic malformation 7
  • p.Arg763Ter Multiple submitters Cardiovascular phenotype
  • p.Arg785Ter Multiple submitters EPHB4-related disorder
  • p.Gln537Ter Multiple submitters EPHB4-related disorder
  • p.Gln580Ter Multiple submitters capillary malformation-arteriovenous malformation 2
  • p.Glu664Lys Multiple submitters capillary malformation-arteriovenous malformation 2
  • p.Ser280Ter Multiple submitters lymphatic malformation 7
  • p.Ser299Ter Multiple submitters
  • p.Tyr906Ter Multiple submitters

Likely pathogenic 51

Conflicting classifications of pathogenicity 60

Benign 54

Benign/Likely benign 29

  • c.2484+11C>T Multiple submitters
  • c.808+3G>A Multiple submitters Cardiovascular phenotype
  • p.Ala14Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala371Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala955Val Multiple submitters Cardiovascular phenotype
  • p.Arg360His Multiple submitters Cardiovascular phenotype
  • p.Glu890Asp Multiple submitters Cardiovascular phenotype
  • p.Gly374Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly462Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu25= Multiple submitters Cardiovascular phenotype
  • p.Leu339= Multiple submitters Cardiovascular phenotype
  • p.Leu45Val Multiple submitters Cardiovascular phenotype
  • p.Leu839= Multiple submitters Cardiovascular phenotype
  • p.Phe759= Multiple submitters Cardiovascular phenotype
  • p.Phe928= Multiple submitters Cardiovascular phenotype
  • p.Pro229= Multiple submitters Cardiovascular phenotype
  • p.Pro231Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro67= Multiple submitters Cardiovascular phenotype
  • p.Pro977= Multiple submitters Cardiovascular phenotype
  • p.Pro983= Multiple submitters Cardiovascular phenotype
  • p.Pro985= Multiple submitters Cardiovascular phenotype
  • p.Ser531= Multiple submitters Cardiovascular phenotype
  • p.Ser799= Multiple submitters Cardiovascular phenotype
  • p.Ser825Asn Multiple submitters Cardiovascular phenotype
  • p.Thr122= Multiple submitters Cardiovascular phenotype
  • p.Thr417= Multiple submitters Cardiovascular phenotype
  • p.Thr544= Multiple submitters Cardiovascular phenotype
  • p.Tyr581= Multiple submitters Cardiovascular phenotype
  • p.Val306= Multiple submitters Cardiovascular phenotype

Likely benign 354

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

Uncertain significance 437

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