Sugi Variant

Sugi Variant/TAF4

TAF4 — 330 ClinVar variants

All ClinVar germline TAF4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 228 flagged for review →

12 Pathogenic · 1 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 1 Conflicting · 5 Benign · 1 Benign/Likely benign · 51 Likely benign · 243 Uncertain significance

Full TAF4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 228

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 194

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 194

Predictors split 33

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

All TAF4 variants

Pathogenic 12

  • p.Ala212fs Single submitter intellectual developmental disorder, autosomal dominant 73
  • p.Gln450Ter Single submitter neurodevelopmental disorder
  • p.Gln507Ter Single submitter Inborn genetic diseases
  • p.Gln907Ter Single submitter Inborn genetic diseases
  • p.Gly100fs Single submitter
  • p.Ile675fs Single submitter TAF4-related disorders
  • p.Pro300fs Single submitter
  • p.Ser809fs Single submitter intellectual developmental disorder, autosomal dominant 73
  • p.Asn818fs No assertion criteria intellectual developmental disorder, autosomal dominant 73
  • p.Gln729Ter No assertion criteria intellectual developmental disorder, autosomal dominant 73
  • p.Gln949Ter No assertion criteria intellectual developmental disorder, autosomal dominant 73
  • p.Lys888fs No assertion criteria intellectual developmental disorder, autosomal dominant 73

Pathogenic/Likely pathogenic 1

  • p.Gln328fs Multiple submitters TAF4-related disorders

Likely pathogenic 16

  • p.Gly171fs Multiple submitters intellectual developmental disorder, autosomal dominant 73
  • p.Gly321fs Multiple submitters intellectual developmental disorder, autosomal dominant 73
  • p.Ala253fs Single submitter intellectual developmental disorder, autosomal dominant 73
  • p.Arg1054fs Single submitter intellectual developmental disorder, autosomal dominant 73
  • p.Arg829Gln Single submitter TAF4-related disorders ⚠
  • p.Gln239Ter Single submitter intellectual developmental disorder, autosomal dominant 73
  • p.Gln735Ter Single submitter intellectual developmental disorder, autosomal dominant 73
  • p.Glu919fs Single submitter intellectual developmental disorder, autosomal dominant 73
  • p.Gly285fs Single submitter intellectual developmental disorder, autosomal dominant 73
  • p.Gly510fs Single submitter intellectual developmental disorder, autosomal dominant 73
  • p.Gly72fs Single submitter intellectual developmental disorder, autosomal dominant 73
  • p.Pro270fs Single submitter intellectual developmental disorder, autosomal dominant 73
  • p.Pro453fs Single submitter intellectual developmental disorder, autosomal dominant 73
  • p.Pro684fs Single submitter TAF4-related disorders
  • p.Pro87fs Single submitter
  • p.Val431fs Single submitter intellectual developmental disorder, autosomal dominant 73

Conflicting classifications of pathogenicity 1

  • p.Gly99fs Single submitter intellectual developmental disorder, autosomal dominant 73 ⚠

Benign 5

Benign/Likely benign 1

Likely benign 51

Uncertain significance 243