Sugi Variant

Sugi Variant/NEBL

NEBL — 1398 ClinVar variants

All ClinVar germline NEBL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 632 flagged for review →

1 Likely pathogenic · 44 Conflicting · 95 Benign · 42 Benign/Likely benign · 441 Likely benign · 775 Uncertain significance

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

⚑ Evidence disagreements 632

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 27

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

Predictors lean, ClinVar uncertain 490

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 490

Predictors split 115

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

All NEBL variants

Likely pathogenic 1

  • p.Asn418fs Single submitter dilated cardiomyopathy

Conflicting classifications of pathogenicity 44

Benign 95

Benign/Likely benign 42

  • c.1008+14C>T Multiple submitters dilated cardiomyopathy
  • c.1008+4_1008+5inv Multiple submitters dilated cardiomyopathy
  • c.1008+8C>G Multiple submitters dilated cardiomyopathy
  • c.1449+14G>A Multiple submitters dilated cardiomyopathy
  • c.153+15T>G Multiple submitters dilated cardiomyopathy
  • c.154-11C>A Multiple submitters dilated cardiomyopathy
  • c.1776+15C>G Multiple submitters dilated cardiomyopathy
  • c.1869+8C>G Multiple submitters dilated cardiomyopathy
  • c.1962+7A>G Multiple submitters dilated cardiomyopathy
  • c.2612-11C>T Multiple submitters dilated cardiomyopathy
  • c.2868+20G>A Multiple submitters dilated cardiomyopathy
  • c.480+11G>A Multiple submitters dilated cardiomyopathy
  • p.Ala1007= Multiple submitters dilated cardiomyopathy
  • p.Ala219Asp Multiple submitters Cardiovascular phenotype
  • p.Ala331= Multiple submitters dilated cardiomyopathy
  • p.Ala685= Multiple submitters dilated cardiomyopathy
  • p.Ala685Val Multiple submitters dilated cardiomyopathy
  • p.Ala769= Multiple submitters dilated cardiomyopathy
  • p.Arg613= Multiple submitters dilated cardiomyopathy
  • p.Asn119= Multiple submitters
  • p.Asn654Lys Multiple submitters dilated cardiomyopathy
  • p.Asp378His Multiple submitters Cardiovascular phenotype
  • p.Asp576= Multiple submitters dilated cardiomyopathy
  • p.Asp895= Multiple submitters dilated cardiomyopathy
  • p.Asp971= Multiple submitters dilated cardiomyopathy
  • p.Glu40= Multiple submitters dilated cardiomyopathy
  • p.Gly424= Multiple submitters dilated cardiomyopathy
  • p.His940= Multiple submitters dilated cardiomyopathy
  • p.Ile621Val Multiple submitters dilated cardiomyopathy
  • p.Ile80= Multiple submitters dilated cardiomyopathy
  • p.Ile828Val Multiple submitters dilated cardiomyopathy
  • p.Ile9= Multiple submitters dilated cardiomyopathy
  • p.Leu307= Multiple submitters dilated cardiomyopathy
  • p.Leu37= Multiple submitters dilated cardiomyopathy
  • p.Lys64Arg Multiple submitters dilated cardiomyopathy
  • p.Met351Val Multiple submitters Cardiovascular phenotype
  • p.Pro208= Multiple submitters dilated cardiomyopathy
  • p.Pro4Leu Multiple submitters dilated cardiomyopathy
  • p.Ser885Phe Multiple submitters dilated cardiomyopathy
  • p.Thr728Ala Multiple submitters Cardiovascular phenotype
  • p.Thr891= Multiple submitters dilated cardiomyopathy
  • p.Thr999= Multiple submitters dilated cardiomyopathy

Likely benign 441

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

Uncertain significance 775

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