Sugi Variant

Sugi Variant/AUTS2

AUTS2 — 1269 ClinVar variants

All ClinVar germline AUTS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 596 flagged for review →

56 Pathogenic · 6 Pathogenic/Likely pathogenic · 41 Likely pathogenic · 70 Conflicting · 144 Benign · 48 Benign/Likely benign · 343 Likely benign · 561 Uncertain significance

Full AUTS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 596

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 4

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 29

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

Predictors lean, ClinVar uncertain 274

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 274

Predictors split 289

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 289

All AUTS2 variants

Pathogenic 56

Pathogenic/Likely pathogenic 6

  • p.Arg126Ter Multiple submitters autism spectrum disorder due to AUTS2 deficiency
  • p.Arg152Ter Multiple submitters Inborn genetic diseases
  • p.Arg316Ter Multiple submitters autism spectrum disorder due to AUTS2 deficiency
  • p.Gln314Ter Multiple submitters AUTS2-related disorder
  • p.Gln340Ter Multiple submitters autism spectrum disorder due to AUTS2 deficiency
  • p.Thr487_Tyr488insTer Multiple submitters autism spectrum disorder due to AUTS2 deficiency

Likely pathogenic 41

  • c.2005-1G>C Multiple submitters autism spectrum disorder due to AUTS2 deficiency
  • p.Gln262Ter Multiple submitters autism spectrum disorder due to AUTS2 deficiency
  • c.1214+1G>T Single submitter autism spectrum disorder due to AUTS2 deficiency
  • c.1215-1G>A Single submitter autism spectrum disorder due to AUTS2 deficiency
  • c.2005-1G>A Single submitter autism spectrum disorder due to AUTS2 deficiency
  • c.2224+1G>T Single submitter autism spectrum disorder due to AUTS2 deficiency
  • c.2308+1G>C Single submitter
  • c.742+2T>G Single submitter autism spectrum disorder due to AUTS2 deficiency
  • p.Ala45Glu Single submitter ⚠
  • p.Ala480fs Single submitter AUTS2-related disorder
  • p.Arg27fs Single submitter
  • p.Arg69fs Single submitter autism spectrum disorder due to AUTS2 deficiency
  • p.Arg870Gly Single submitter ⚠
  • p.Arg877fs Single submitter
  • p.Asp829Ter Single submitter autism spectrum disorder due to AUTS2 deficiency
  • p.Asp920fs Single submitter autism spectrum disorder due to AUTS2 deficiency
  • p.Gln160Ter Single submitter autism spectrum disorder due to AUTS2 deficiency
  • p.Gln308Ter Single submitter autism spectrum disorder due to AUTS2 deficiency
  • p.Gln496fs Single submitter autism spectrum disorder due to AUTS2 deficiency
  • p.Gln536Ter Single submitter autism spectrum disorder due to AUTS2 deficiency
  • p.Glu894Lys Single submitter ⚠
  • p.His529Gln Single submitter ⚠
  • p.His531Arg Single submitter AUTS2-related disorder
  • p.His535Pro Single submitter autism spectrum disorder due to AUTS2 deficiency
  • p.His535Tyr Single submitter autism spectrum disorder due to AUTS2 deficiency
  • p.Ile550fs Single submitter autism spectrum disorder due to AUTS2 deficiency
  • p.Met1Arg Single submitter
  • p.Ser383fs Single submitter autism spectrum disorder due to AUTS2 deficiency
  • p.Ser507fs Single submitter autism spectrum disorder due to AUTS2 deficiency
  • p.Thr328fs Single submitter autism spectrum disorder
  • p.Thr368fs Single submitter
  • p.Thr999_Glu1004del Single submitter
  • p.Tyr488fs Single submitter autism spectrum disorder due to AUTS2 deficiency
  • p.Tyr519Ter Single submitter autism spectrum disorder due to AUTS2 deficiency
  • p.Val949fs Single submitter
  • p.Arg938Trp No assertion criteria ⚠
  • p.Gln416fs No assertion criteria intellectual disability
  • p.His535Gln No assertion criteria Pierre Robin-like syndrome
  • p.His537Gln No assertion criteria autism spectrum disorder due to AUTS2 deficiency ⚠
  • p.Pro592fs No assertion criteria autism spectrum disorder due to AUTS2 deficiency
  • p.Thr534Pro No assertion criteria isolated cerebellar hypoplasia/agenesis ⚠

Conflicting classifications of pathogenicity 70

Benign 144

Benign/Likely benign 48

Likely benign 343

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

Uncertain significance 561

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