Sugi Variant

Sugi Variant/EDNRB

EDNRB — 394 ClinVar variants

All ClinVar germline EDNRB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 179 flagged for review →

16 Pathogenic · 5 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 21 Conflicting · 13 Benign · 5 Benign/Likely benign · 74 Likely benign · 240 Uncertain significance

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

⚑ Evidence disagreements 179

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 8

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

Predictors lean, ClinVar uncertain 141

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 29

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

All EDNRB variants

Pathogenic 16

Pathogenic/Likely pathogenic 5

  • c.596+1G>A Multiple submitters Hirschsprung disease, susceptibility to, 2
  • p.Arg201Ter Multiple submitters EDNRB-related disorder
  • p.Asn382Ter Multiple submitters Waardenburg syndrome type 4A
  • p.Met300_Leu301insTer Multiple submitters Waardenburg syndrome type 4A
  • p.Cys19Ter No assertion criteria Waardenburg syndrome type 4A

Likely pathogenic 20

Conflicting classifications of pathogenicity 21

  • c.1194+15C>T Single submitter Hirschsprung disease, susceptibility to, 2
  • c.483+15C>T Single submitter Hirschsprung disease, susceptibility to, 2
  • c.-26G>A Single submitter Waardenburg syndrome type 4A
  • c.*1310C>T Single submitter Hirschsprung disease, susceptibility to, 2
  • c.*1662T>C Single submitter Hirschsprung disease, susceptibility to, 2
  • c.*296A>G Single submitter Hirschsprung disease, susceptibility to, 2
  • p.Arg76Met Single submitter ⚠
  • p.Cys6Ter Single submitter Waardenburg syndrome
  • p.Gly57Ser Single submitter Hirschsprung disease, susceptibility to, 2 ⚠
  • p.Ile117_Ser120del Single submitter
  • p.Leu17Phe Single submitter Hirschsprung disease, susceptibility to, 2 ⚠
  • p.Leu62= Single submitter
  • p.Lys422Glu Single submitter
  • p.Pro259= Single submitter Hirschsprung disease, susceptibility to, 2
  • p.Pro33= Single submitter Hirschsprung disease, susceptibility to, 2
  • p.Pro338Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser305Asn Single submitter mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant ⚠
  • p.Ser413= Single submitter Hirschsprung disease, susceptibility to, 2
  • p.Thr244Met Single submitter Hirschsprung disease, susceptibility to, 2 ⚠
  • p.Trp276Cys Single submitter EDNRB-related disorder ⚠
  • p.Val260Ile Single submitter Hirschsprung disease, susceptibility to, 2 ⚠

Benign 13

Benign/Likely benign 5

  • c.951+16T>C Multiple submitters
  • c.*1546A>G Multiple submitters Hirschsprung disease, susceptibility to, 2
  • c.*1767C>T Multiple submitters Hirschsprung disease, susceptibility to, 2
  • p.Ile187= Multiple submitters Hirschsprung disease, susceptibility to, 2
  • p.Val260Phe Multiple submitters Waardenburg syndrome type 4A

Likely benign 74

Uncertain significance 240