Sugi Variant

Sugi Variant/NTNG2

NTNG2 — 93 ClinVar variants

All ClinVar germline NTNG2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →

2 Pathogenic · 4 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 1 Conflicting · 4 Benign · 2 Benign/Likely benign · 19 Likely benign · 59 Uncertain significance

Full NTNG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 53

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 lean, ClinVar uncertain 45

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

Predictors split 8

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

All NTNG2 variants

Pathogenic 2

  • p.Trp161Ter Single submitter neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
  • p.Ser126fs No assertion criteria Stereotypical hand wringing

Pathogenic/Likely pathogenic 4

  • p.Cys355Trp No assertion criteria neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
  • p.Cys456Tyr No assertion criteria neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
  • p.Cys81Tyr No assertion criteria neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
  • p.Trp107Gly No assertion criteria neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia

Likely pathogenic 2

  • p.Phe141Ser Single submitter congenital nervous system disorder
  • p.Ser200Leu No assertion criteria neurodevelopmental disorder

Conflicting classifications of pathogenicity 1

  • c.858-13G>A Single submitter neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia

Benign 4

  • c.858-3C>T Multiple submitters
  • p.His292= Multiple submitters neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
  • p.Phe246= Multiple submitters neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
  • p.Thr346Ala Multiple submitters neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia

Benign/Likely benign 2

Likely benign 19

Uncertain significance 59