Sugi Variant

Sugi Variant/ZNF142

ZNF142 — 473 ClinVar variants

All ClinVar germline ZNF142 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 301 flagged for review →

22 Pathogenic · 6 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 8 Conflicting · 22 Benign · 1 Benign/Likely benign · 89 Likely benign · 306 Uncertain significance

Full ZNF142 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 301

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 5

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

Predictors lean, ClinVar uncertain 232

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 232

Predictors split 64

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

All ZNF142 variants

Pathogenic 22

  • p.Arg1544Ter Multiple submitters neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Arg618Ter Multiple submitters neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Arg836Ter Multiple submitters neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Glu1316fs Multiple submitters neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Leu1535fs Multiple submitters neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • c.1874-2A>G Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • c.5089-1G>A Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Ala1302fs Single submitter Inborn genetic diseases
  • p.Arg1664Ter Single submitter
  • p.Cys631fs Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Gln1621Ter Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Gln588Ter Single submitter
  • p.Glu1151fs Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Gly1257fs Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.His1084fs Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Leu1445fs Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Leu1445Ter Single submitter
  • p.Lys473fs Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Pro844fs Single submitter Inborn genetic diseases
  • p.Ser1104Ter Single submitter Inborn genetic diseases
  • p.Thr1348fs Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Thr376fs Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements

Pathogenic/Likely pathogenic 6

  • p.Arg1259Ter Multiple submitters neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Arg677Ter Multiple submitters neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Asp589fs Multiple submitters neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Gln1372Ter Multiple submitters ZNF142-related disorder
  • p.Gly1252fs Multiple submitters neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Pro837fs Multiple submitters neurodevelopmental disorder with impaired speech and hyperkinetic movements

Likely pathogenic 19

  • p.Gln1263fs Multiple submitters neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • c.280+1G>A Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • c.5194+1G>C Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Arg1253fs Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Arg1421Ter Single submitter
  • p.Arg1508Ter Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Arg1700Trp Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Arg639Ter Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Cys1433Phe Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Cys1823fs Single submitter
  • p.Gln1078Ter Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Glu1677fs Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Glu898fs Single submitter
  • p.His1451fs Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Leu1137fs Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Lys328fs Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Met1026_Val1027insTer Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Phe1495Leu Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements ⚠
  • p.Val1159fs Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements

Conflicting classifications of pathogenicity 8

  • p.Arg1390Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1752Cys Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements ⚠
  • p.Gln306Ter Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Gln9Ter Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Glu1214Lys Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements ⚠
  • p.Pro1564Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro1679fs Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements
  • p.Val1840Ile Single submitter neurodevelopmental disorder with impaired speech and hyperkinetic movements ⚠

Benign 22

Benign/Likely benign 1

  • p.Arg519His Multiple submitters neurodevelopmental disorder with impaired speech and hyperkinetic movements

Likely benign 89

Uncertain significance 306

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