Sugi Variant

Sugi Variant/TELO2

TELO2 — 646 ClinVar variants

All ClinVar germline TELO2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 249 flagged for review →

11 Pathogenic · 3 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 27 Conflicting · 43 Benign · 15 Benign/Likely benign · 277 Likely benign · 254 Uncertain significance

Full TELO2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 249

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 21

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

Predictors lean, ClinVar uncertain 171

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 171

Predictors split 57

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

All TELO2 variants

Pathogenic 11

  • p.Glu551fs Multiple submitters
  • p.Val267fs Multiple submitters TELO2-related intellectual disability-neurodevelopmental disorder
  • p.Arg609Cys Single submitter TELO2-related intellectual disability-neurodevelopmental disorder
  • p.Asn641fs Single submitter
  • p.Asp708Ter Single submitter
  • p.Gln140Ter Single submitter
  • p.Glu154fs Single submitter
  • p.Glu190fs Single submitter
  • p.Leu541delinsProTer Single submitter TELO2-related intellectual disability-neurodevelopmental disorder
  • p.Leu731fs Single submitter TELO2-related intellectual disability-neurodevelopmental disorder
  • p.Thr145fs Single submitter TELO2-related intellectual disability-neurodevelopmental disorder

Pathogenic/Likely pathogenic 3

  • p.Arg403Ter Multiple submitters TELO2-related intellectual disability-neurodevelopmental disorder
  • p.Arg609His Multiple submitters TELO2-related intellectual disability-neurodevelopmental disorder
  • p.Cys367Phe Multiple submitters TELO2-related intellectual disability-neurodevelopmental disorder

Likely pathogenic 16

  • c.2034+2T>C Multiple submitters TELO2-related intellectual disability-neurodevelopmental disorder
  • c.2291+1G>C Multiple submitters TELO2-related disorder
  • c.1282-1G>T Single submitter
  • c.2226+1G>C Single submitter TELO2-related intellectual disability-neurodevelopmental disorder
  • c.2227-1G>A Single submitter
  • c.335+1G>C Single submitter
  • c.682+1G>A Single submitter TELO2-related intellectual disability-neurodevelopmental disorder
  • c.742_830+600del Single submitter
  • p.Gln146Ter Single submitter TELO2-related intellectual disability-neurodevelopmental disorder
  • p.Gln307fs Single submitter
  • p.Gln316Ter Single submitter TELO2-related intellectual disability-neurodevelopmental disorder
  • p.Gln370fs Single submitter
  • p.Gln598fs Single submitter TELO2-related intellectual disability-neurodevelopmental disorder
  • p.Gln634Ter Single submitter
  • p.Leu188fs Single submitter
  • p.Met1Leu Single submitter

Conflicting classifications of pathogenicity 27

Benign 43

Benign/Likely benign 15

Likely benign 277

Uncertain significance 254