Sugi Variant

Sugi Variant/ZNF292

ZNF292 — 893 ClinVar variants

All ClinVar germline ZNF292 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 400 flagged for review →

37 Pathogenic · 9 Pathogenic/Likely pathogenic · 64 Likely pathogenic · 20 Conflicting · 21 Benign · 8 Benign/Likely benign · 228 Likely benign · 506 Uncertain significance

Full ZNF292 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 400

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 9

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

Predicted LoF vs a conflicting call 7

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 338

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 338

Predictors split 46

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

All ZNF292 variants

Pathogenic 37

  • p.Arg2001Ter Multiple submitters Inborn genetic diseases
  • p.Arg2094fs Multiple submitters intellectual developmental disorder, autosomal dominant 64
  • p.Glu1022fs Multiple submitters intellectual developmental disorder, autosomal dominant 64
  • p.Ile1984fs Multiple submitters Inborn genetic diseases
  • p.Arg2080fs Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Arg2094Ter Single submitter
  • p.Arg2115Ter Single submitter neurodevelopmental disorder
  • p.Arg2173Ter Single submitter
  • p.Arg2181Ter Single submitter neurodevelopmental disorder
  • p.Arg869fs Single submitter Inborn genetic diseases
  • p.Arg989fs Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Asn1306Ter Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Asn1477fs Single submitter
  • p.Asn1614fs Single submitter neurodevelopmental disorder
  • p.Asn1792fs Single submitter neurodevelopmental disorder
  • p.Gln1242fs Single submitter Inborn genetic diseases
  • p.Gln1484Ter Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Gln1597Ter Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Gln1613Ter Single submitter Inborn genetic diseases
  • p.Gln1745Ter Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Glu472Ter Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Ile573fs Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Leu108fs Single submitter ZNF292-related disorder
  • p.Leu1204fs Single submitter
  • p.Lys179_Val180insTer Single submitter
  • p.Lys2089fs Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Phe1330fs Single submitter Inborn genetic diseases
  • p.Phe1920fs Single submitter
  • p.Ser1088fs Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Ser1428fs Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Ser145fs Single submitter Inborn genetic diseases
  • p.Ser1604fs Single submitter Inborn genetic diseases
  • p.Thr2075fs Single submitter
  • p.Thr958fs Single submitter
  • p.Trp1366Ter Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Tyr764Ter Single submitter Neurodevelopmental delay
  • p.Val336fs Single submitter Inborn genetic diseases

Pathogenic/Likely pathogenic 9

  • p.Arg1107Ter Multiple submitters intellectual developmental disorder, autosomal dominant 64
  • p.Arg89Ter Multiple submitters intellectual disability
  • p.Asn1144fs Multiple submitters intellectual developmental disorder, autosomal dominant 64
  • p.Asn1705fs Multiple submitters ZNF292-related disorder
  • p.Lys1633Ter Multiple submitters Inborn genetic diseases
  • p.Ser2049fs Multiple submitters intellectual developmental disorder, autosomal dominant 64
  • p.Val1154fs Multiple submitters intellectual developmental disorder, autosomal dominant 64
  • p.Ser1473fs No assertion criteria intellectual developmental disorder, autosomal dominant 64
  • p.Ser832fs No assertion criteria intellectual developmental disorder, autosomal dominant 64

Likely pathogenic 64

  • p.Arg558Ter Multiple submitters
  • p.Arg633Ter Multiple submitters ZNF292-related disorder
  • p.Asn1790fs Multiple submitters intellectual developmental disorder, autosomal dominant 64
  • p.Leu1005Ter Multiple submitters ZNF292-related disorder
  • p.Lys2095fs Multiple submitters ZNF292-related disorder
  • c.742-3T>G Single submitter
  • p.Ala1129fs Single submitter
  • p.Arg1397Ter Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Arg1630fs Single submitter
  • p.Arg527fs Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Asn2074fs Single submitter
  • p.Asn708fs Single submitter
  • p.Asp1346fs Single submitter
  • p.Cys1677Ter Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Cys571fs Single submitter
  • p.Gln1019fs Single submitter intellectual disability
  • p.Gln1113fs Single submitter ZNF292-related disorder
  • p.Gln156fs Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Gln1827Ter Single submitter ZNF292-related disorder
  • p.Gln1884Ter Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Gln1941Ter Single submitter
  • p.Gln1969fs Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Gln2058Ter Single submitter ZNF292-related disorder
  • p.Gln283fs Single submitter ZNF292-related disorder
  • p.Gln802Ter Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Glu1507Ter Single submitter
  • p.Glu1839fs Single submitter Inborn genetic diseases
  • p.Glu2054fs Single submitter
  • p.Glu2164fs Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Glu680fs Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Glu863Ter Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.His774Asp Single submitter
  • p.Ile1658fs Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Ile2039fs Single submitter ZNF292-related disorder
  • p.Leu1536fs Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Leu273Pro Single submitter
  • p.Leu284fs Single submitter ZNF292-related disorder
  • p.Lys1660fs Single submitter
  • p.Lys1805fs Single submitter ZNF292-related disorder
  • p.Lys2006fs Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Pro1075fs Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Ser1083Ter Single submitter Paediatric disorders
  • p.Ser1164Ter Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Ser1288fs Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Ser1322Ter Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Ser2000fs Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Ser596fs Single submitter intellectual disability
  • p.Thr1305fs Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Tyr1399Ter Single submitter autosomal dominant non-syndromic intellectual disability
  • p.Tyr2193Ser Single submitter ZNF292-related neurodevelopmental condition
  • p.Tyr290Ter Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Val1801fs Single submitter
  • p.Val2038fs Single submitter Inborn genetic diseases
  • p.Arg387fs No assertion criteria neurodevelopmental disorder
  • p.Asn1621fs No assertion criteria intellectual developmental disorder, autosomal dominant 64
  • p.Cys724fs No assertion criteria neurodevelopmental disorder
  • p.Cys994Ter No assertion criteria ZNF292-related disorder
  • p.Gln1729Ter No assertion criteria neurodevelopmental disorder
  • p.Gln523Ter No assertion criteria neurodevelopmental disorder
  • p.Gly1989fs No assertion criteria neurodevelopmental disorder
  • p.Lys2048fs No assertion criteria neurodevelopmental disorder
  • p.Ser1271Ter No assertion criteria neurodevelopmental disorder
  • p.Thr1237fs No assertion criteria neurodevelopmental disorder
  • p.Val941fs No assertion criteria neurodevelopmental disorder

Conflicting classifications of pathogenicity 20

Benign 21

Benign/Likely benign 8

Likely benign 228

Uncertain significance 506

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