Sugi Variant

Sugi Variant/NONO

NONO — 230 ClinVar variants

All ClinVar germline NONO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →

24 Pathogenic · 12 Likely pathogenic · 5 Conflicting · 13 Benign · 11 Benign/Likely benign · 60 Likely benign · 105 Uncertain significance

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

⚑ Evidence disagreements 86

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 1

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

Predictors lean, ClinVar uncertain 50

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

Predictors split 35

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

All NONO variants

Pathogenic 24

  • p.Ala377= Multiple submitters syndromic X-linked intellectual disability 34
  • p.Arg184Ter Multiple submitters syndromic X-linked intellectual disability 34
  • c.1131+1G>A Single submitter
  • c.348+2_348+15del Single submitter Non-ossifying fibromas with pathologic factures and X-linked intellectual disability
  • p.Ala100fs Single submitter syndromic X-linked intellectual disability 34
  • p.Arg153Ter Single submitter syndromic X-linked intellectual disability 34
  • p.Arg337Ter Single submitter
  • p.Arg73Ter Single submitter
  • p.Asn244fs Single submitter syndromic X-linked intellectual disability 34
  • p.Asn466fs Single submitter syndromic X-linked intellectual disability 34
  • p.Gln358fs Single submitter
  • p.Gln35Ter Single submitter
  • p.Lys68fs Single submitter syndromic X-linked intellectual disability 34
  • p.Phe77fs Single submitter
  • p.Phe94fs Single submitter syndromic X-linked intellectual disability 34
  • p.Pro237fs Single submitter Neurodevelopmental delay
  • p.Pro36fs Single submitter syndromic X-linked intellectual disability 34
  • p.Pro430fs Single submitter
  • p.Pro82fs Single submitter
  • p.Thr69fs Single submitter syndromic X-linked intellectual disability 34
  • c.1171+1G>T No assertion criteria syndromic X-linked intellectual disability 34
  • c.154+1GT[2] No assertion criteria syndromic X-linked intellectual disability 34
  • p.Arg365Ter No assertion criteria syndromic X-linked intellectual disability 34
  • p.Gly391Cys No assertion criteria syndromic X-linked intellectual disability 34

Likely pathogenic 12

  • c.651-1G>C Multiple submitters syndromic X-linked intellectual disability 34
  • c.1131+1G>T Single submitter NONO-related disorder
  • c.1132-1G>A Single submitter syndromic X-linked intellectual disability 34
  • c.322_348+280del Single submitter syndromic X-linked intellectual disability 34
  • c.332_348+280del Single submitter syndromic X-linked intellectual disability 34
  • c.650+1G>A Single submitter syndromic X-linked intellectual disability 34
  • p.Asn397fs Single submitter syndromic X-linked intellectual disability 34
  • p.Gly372Ter Single submitter NONO-related disorder
  • p.Gly415fs Single submitter syndromic X-linked intellectual disability 34
  • p.His106fs Single submitter syndromic X-linked intellectual disability 34
  • p.Lys92fs Single submitter syndromic X-linked intellectual disability 34
  • p.Pro83fs Single submitter Abnormal heart morphology

Conflicting classifications of pathogenicity 5

Benign 13

Benign/Likely benign 11

Likely benign 60

Uncertain significance 105