Sugi Variant

Sugi Variant/TONSL

TONSL — 1284 ClinVar variants

All ClinVar germline TONSL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 511 flagged for review →

42 Pathogenic · 9 Pathogenic/Likely pathogenic · 30 Likely pathogenic · 35 Conflicting · 34 Benign · 24 Benign/Likely benign · 554 Likely benign · 556 Uncertain significance

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

⚑ Evidence disagreements 511

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 2

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 406

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 406

Predictors split 74

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

All TONSL variants

Pathogenic 42

Pathogenic/Likely pathogenic 9

  • c.1891-1G>C Multiple submitters spondyloepimetaphyseal dysplasia, sponastrime type
  • p.Arg875Ter Multiple submitters TONSL-related disorder
  • p.Gln177Ter Multiple submitters TONSL-related disorder
  • p.Gln511Ter Multiple submitters spondyloepimetaphyseal dysplasia, sponastrime type
  • p.Glu487Lys Multiple submitters spondyloepimetaphyseal dysplasia, sponastrime type ⚠
  • p.Leu225fs Multiple submitters spondyloepimetaphyseal dysplasia, sponastrime type
  • p.Ala536fs No assertion criteria spondyloepimetaphyseal dysplasia, sponastrime type
  • p.Arg880fs No assertion criteria spondyloepimetaphyseal dysplasia, sponastrime type
  • p.Ser1197Pro No assertion criteria spondyloepimetaphyseal dysplasia, sponastrime type ⚠

Likely pathogenic 30

  • c.1290+2T>C Single submitter
  • c.1564-2A>G Single submitter
  • c.1890+2T>G Single submitter spondyloepimetaphyseal dysplasia, sponastrime type
  • c.25+1G>C Single submitter
  • c.2776-2A>G Single submitter spondyloepimetaphyseal dysplasia, sponastrime type
  • c.3006_3006+1del Single submitter spondyloepimetaphyseal dysplasia, sponastrime type
  • c.3007-2A>C Single submitter TONSL-related disorder
  • c.3387+1_3387+19del Single submitter
  • c.3387+1G>A Single submitter
  • c.3735+1G>A Single submitter
  • c.740_750+17del Single submitter
  • c.750+1G>A Single submitter
  • c.750+2T>C Single submitter
  • c.751-2A>C Single submitter
  • p.Ala221fs Single submitter TONSL-related disorder
  • p.Ala985fs Single submitter spondyloepimetaphyseal dysplasia, sponastrime type
  • p.Asn182fs Single submitter spondyloepimetaphyseal dysplasia, sponastrime type
  • p.Cys762fs Single submitter TONSL-related disorder
  • p.Gln1032Ter Single submitter spondyloepimetaphyseal dysplasia, sponastrime type
  • p.Gln1056Ter Single submitter spondyloepimetaphyseal dysplasia, sponastrime type
  • p.Gln88Ter Single submitter Susceptibility to severe COVID-19
  • p.Glu479fs Single submitter spondyloepimetaphyseal dysplasia, sponastrime type
  • p.Leu1324fs Single submitter spondyloepimetaphyseal dysplasia, sponastrime type
  • p.Pro826fs Single submitter spondyloepimetaphyseal dysplasia, sponastrime type
  • c.122-5C>G No assertion criteria spondyloepimetaphyseal dysplasia, sponastrime type
  • c.449-2A>C No assertion criteria TONSL-related disorder
  • p.Arg1266fs No assertion criteria spondyloepimetaphyseal dysplasia, sponastrime type
  • p.Gln1033fs No assertion criteria spondyloepimetaphyseal dysplasia, sponastrime type
  • p.Gln154Ter No assertion criteria spondyloepimetaphyseal dysplasia, sponastrime type
  • p.Gln713Ter No assertion criteria Skeletal dysplaisia with extra-skeletal manifestations

Conflicting classifications of pathogenicity 35

Benign 34

Benign/Likely benign 24

Likely benign 554

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

Uncertain significance 556

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