Sugi Variant

Sugi Variant/TAF1

TAF1 — 795 ClinVar variants

All ClinVar germline TAF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 250 flagged for review →

10 Pathogenic · 5 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 27 Conflicting · 60 Benign · 43 Benign/Likely benign · 212 Likely benign · 416 Uncertain significance

Full TAF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 250

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 10

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

Predictors lean, ClinVar uncertain 170

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 170

Predictors split 68

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

All TAF1 variants

Pathogenic 10

  • p.Arg1432His Multiple submitters intellectual disability, X-linked, syndromic 33
  • p.Ile1317Thr Multiple submitters intellectual disability, X-linked, syndromic 33
  • c.1943_1947+1del Single submitter
  • p.Arg1170Cys Single submitter intellectual disability, X-linked, syndromic 33
  • p.Arg870His Single submitter
  • p.Asp956His Single submitter intellectual disability, X-linked, syndromic 33
  • p.Ile485Asn Single submitter intellectual disability, X-linked, syndromic 33
  • p.Thr1032Ile Single submitter ⚠
  • p.Thr992Ile Single submitter intellectual disability, X-linked, syndromic 33
  • p.Arg707Leu No assertion criteria Speech and developmental delays

Pathogenic/Likely pathogenic 5

  • p.Arg1234Gln Multiple submitters intellectual disability, X-linked, syndromic 33
  • p.Arg870Cys Multiple submitters TAF1-related syndromic intellectual disability
  • p.Asn1497His Multiple submitters Marfanoid habitus and intellectual disability
  • p.Phe403Val Multiple submitters intellectual disability, X-linked, syndromic 33
  • p.Ala1507Val No assertion criteria TAF1-related disorder

Likely pathogenic 22

  • p.Arg1062Cys Multiple submitters intellectual disability ⚠
  • c.3407-1G>A Single submitter intellectual disability, X-linked, syndromic 33
  • p.Ala955Val Single submitter
  • p.Arg1424Trp Single submitter ⚠
  • p.Arg775Leu Single submitter intellectual disability, X-linked, syndromic 33
  • p.Arg805Gln Single submitter intellectual disability, X-linked, syndromic 33
  • p.Cys787Arg Single submitter intellectual disability, X-linked, syndromic 33
  • p.Gln1429Pro Single submitter intellectual disability, X-linked, syndromic 33
  • p.His1465Arg Single submitter intellectual disability, X-linked, syndromic 33
  • p.Leu1439Pro Single submitter ⚠
  • p.Met1426Val Single submitter
  • p.Pro1409Leu Single submitter intellectual disability, X-linked, syndromic 33
  • p.Ser965Phe Single submitter intellectual disability, X-linked, syndromic 33
  • p.Thr62Arg Single submitter TAF1-related disorder ⚠
  • p.Thr728fs Single submitter Inborn genetic diseases
  • p.Thr958Met Single submitter
  • p.Tyr904Cys Single submitter
  • p.Val1325Ile Single submitter intellectual disability, X-linked, syndromic 33 ⚠
  • p.Val239Met Single submitter intellectual disability
  • p.Asp507Gly No assertion criteria intellectual disability, X-linked, syndromic 33
  • p.Gly905Asp No assertion criteria intellectual disability
  • p.Tyr1583Cys No assertion criteria intellectual disability, X-linked, syndromic 33

Conflicting classifications of pathogenicity 27

Benign 60

Benign/Likely benign 43

Likely benign 212

Uncertain significance 416

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