Sugi Variant

Sugi Variant/TBCE

TBCE — 646 ClinVar variants

All ClinVar germline TBCE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →

36 Pathogenic · 9 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 31 Conflicting · 72 Benign · 10 Benign/Likely benign · 301 Likely benign · 171 Uncertain significance

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

⚑ Evidence disagreements 133

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 7

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

Predictors lean, ClinVar uncertain 94

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

Predictors split 32

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

All TBCE variants

Pathogenic 36

Pathogenic/Likely pathogenic 9

  • c.100+1G>A Multiple submitters hypoparathyroidism-retardation-dysmorphism syndrome
  • p.Asn212fs Multiple submitters
  • p.Gln123Ter Multiple submitters TBCE-related disorder
  • p.Ile119fs Multiple submitters hypoparathyroidism-retardation-dysmorphism syndrome
  • p.Ile155Asn Multiple submitters TBCE-related disorder
  • p.Leu234fs Multiple submitters TBCE-related disorder
  • p.Lys145Ter Multiple submitters autosomal recessive Kenny-Caffey syndrome
  • p.Lys48fs Multiple submitters TBCE-related disorder
  • p.Ser52_Gly55del Multiple submitters TBCE-related disorder

Likely pathogenic 16

  • p.Arg12Ter Multiple submitters encephalopathy, progressive, with amyotrophy and optic atrophy
  • p.Glu347fs Multiple submitters encephalopathy, progressive, with amyotrophy and optic atrophy
  • c.101-1G>C Single submitter hypoparathyroidism-retardation-dysmorphism syndrome
  • c.1116+1G>T Single submitter hypoparathyroidism-retardation-dysmorphism syndrome
  • c.185+1G>C Single submitter hypoparathyroidism-retardation-dysmorphism syndrome
  • c.186-2A>G Single submitter
  • c.371+1G>A Single submitter
  • c.371+2T>A Single submitter
  • c.561-2A>G Single submitter hypoparathyroidism-retardation-dysmorphism syndrome
  • c.737+1G>A Single submitter encephalopathy, progressive, with amyotrophy and optic atrophy
  • c.899-2A>G Single submitter
  • p.Arg246fs Single submitter hypoparathyroidism-retardation-dysmorphism syndrome
  • p.Gln395Ter Single submitter
  • p.Gly34Ala Single submitter Inborn genetic diseases ⚠
  • p.Lys510fs Single submitter
  • p.Val111Gly Single submitter encephalopathy, progressive, with amyotrophy and optic atrophy

Conflicting classifications of pathogenicity 31

  • c.100+15T>G Single submitter hypoparathyroidism-retardation-dysmorphism syndrome
  • c.100+6C>T Single submitter
  • c.101-2A>G Single submitter Inborn genetic diseases
  • c.1270+9G>A Single submitter hypoparathyroidism-retardation-dysmorphism syndrome
  • c.1491_1491+4dup Single submitter Inborn genetic diseases
  • c.371+2_371+8dup Single submitter encephalopathy, progressive, with amyotrophy and optic atrophy
  • c.460+14C>T Single submitter hypoparathyroidism-retardation-dysmorphism syndrome
  • c.660+9_660+10del Single submitter
  • c.737+11C>T Single submitter hypoparathyroidism-retardation-dysmorphism syndrome
  • c.738-12T>A Single submitter hypoparathyroidism-retardation-dysmorphism syndrome
  • c.833+8G>T Single submitter
  • c.898+5A>T Single submitter
  • c.963+8C>G Single submitter hypoparathyroidism-retardation-dysmorphism syndrome
  • p.Ala226= Single submitter
  • p.Arg526Gln Single submitter hypoparathyroidism-retardation-dysmorphism syndrome ⚠
  • p.Asn315= Single submitter hypoparathyroidism-retardation-dysmorphism syndrome
  • p.Asn405fs Single submitter
  • p.Glu45Lys Single submitter ⚠
  • p.His53= Single submitter hypoparathyroidism-retardation-dysmorphism syndrome
  • p.Ile283Phe Single submitter encephalopathy, progressive, with amyotrophy and optic atrophy ⚠
  • p.Ile85Val Single submitter hypoparathyroidism-retardation-dysmorphism syndrome ⚠
  • p.Leu236= Single submitter
  • p.Leu270= Single submitter hypoparathyroidism-retardation-dysmorphism syndrome
  • p.Leu421= Single submitter hypoparathyroidism-retardation-dysmorphism syndrome
  • p.Leu489Ile Single submitter encephalopathy, progressive, with amyotrophy and optic atrophy ⚠
  • p.Pro375= Single submitter hypoparathyroidism-retardation-dysmorphism syndrome
  • p.Pro466= Single submitter
  • p.Ser195= Single submitter hypoparathyroidism-retardation-dysmorphism syndrome
  • p.Thr303= Single submitter hypoparathyroidism-retardation-dysmorphism syndrome
  • p.Thr65Lys Single submitter ⚠
  • p.Val132Ile Single submitter ⚠

Benign 72

Benign/Likely benign 10

  • c.100+13T>G Multiple submitters hypoparathyroidism-retardation-dysmorphism syndrome
  • c.100+13TG[14] Multiple submitters
  • c.100+13TG[17] Multiple submitters
  • c.100+13TG[25] Multiple submitters
  • c.101-5G>A Multiple submitters hypoparathyroidism-retardation-dysmorphism syndrome
  • c.1400-14T>C Multiple submitters hypoparathyroidism-retardation-dysmorphism syndrome
  • c.1492-14C>T Multiple submitters hypoparathyroidism-retardation-dysmorphism syndrome
  • c.661-1263del Multiple submitters
  • p.Pro72Ser Multiple submitters hypoparathyroidism-retardation-dysmorphism syndrome
  • p.Ser333Thr Multiple submitters hypoparathyroidism-retardation-dysmorphism syndrome

Likely benign 301

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

Uncertain significance 171