Sugi Variant

Sugi Variant/HUWE1

HUWE1 — 2090 ClinVar variants

All ClinVar germline HUWE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 642 flagged for review →

9 Pathogenic · 5 Pathogenic/Likely pathogenic · 68 Likely pathogenic · 85 Conflicting · 227 Benign · 101 Benign/Likely benign · 580 Likely benign · 1015 Uncertain significance

Full HUWE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 642

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 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 42

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

Predictors lean, ClinVar uncertain 442

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 442

Predictors split 155

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 155

All HUWE1 variants

Pathogenic 9

  • c.567+1G>C Multiple submitters intellectual disability, X-linked syndromic, Turner type
  • p.Arg110Gln Multiple submitters Inborn genetic diseases
  • p.Arg3070His Multiple submitters intellectual disability, X-linked syndromic, Turner type
  • c.646-1G>A Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Gly987fs Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.His4135Pro Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Ile4136Met Single submitter Global developmental delay
  • p.Leu4227Ser Single submitter
  • p.Tyr4031His Single submitter intellectual disability, X-linked syndromic, Turner type

Pathogenic/Likely pathogenic 5

  • p.Arg2981His Multiple submitters intellectual disability, X-linked syndromic, Turner type
  • p.Arg3070Cys Multiple submitters HUWE1-related disorder
  • p.Arg4013Trp Multiple submitters HUWE1-related disorder
  • p.Gly4310Arg Multiple submitters intellectual disability, X-linked syndromic, Turner type
  • p.Tyr4231His Multiple submitters intellectual disability, X-linked syndromic, Turner type

Likely pathogenic 68

  • p.Gly4217Ala Multiple submitters intellectual disability, X-linked syndromic, Turner type
  • p.Leu4157Val Multiple submitters intellectual disability
  • p.Met1328Val Multiple submitters intellectual disability, X-linked syndromic, Turner type
  • p.Pro4076Arg Multiple submitters intellectual disability, X-linked syndromic, Turner type
  • p.Ser115Phe Multiple submitters intellectual disability, X-linked syndromic, Turner type
  • p.Thr216Ile Multiple submitters intellectual disability ⚠
  • c.145-2A>G Single submitter trigonocephaly-short stature-developmental delay syndrome
  • c.2320-19A>G Single submitter intellectual disability, X-linked syndromic, Turner type
  • c.6098-20_6109del Single submitter intellectual disability, X-linked syndromic, Turner type
  • c.693+1G>A Single submitter
  • p.Ala1338Val Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Ala3024Thr Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Arg1992Trp Single submitter HUWE1-related disorder ⚠
  • p.Arg2981Leu Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Arg3071His Single submitter
  • p.Arg4063Gln Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Arg4187His Single submitter
  • p.Arg4187Ser Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Arg4330Ser Single submitter
  • p.Asn4075Ile Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Asn4075Lys Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Asp2588Val Single submitter HUWE1-related disorder
  • p.Asp2969Asn Single submitter
  • p.Asp4171Tyr Single submitter
  • p.Gln1385Lys Single submitter
  • p.Gln164del Single submitter intellectual disability
  • p.Glu105Val Single submitter
  • p.Glu1671Lys Single submitter ⚠
  • p.Glu2104Gly Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Glu2466Lys Single submitter HUWE1-related disorder ⚠
  • p.Glu4244Asp Single submitter intellectual disability, X-linked syndromic, Turner type ⚠
  • p.Gly3295Ser Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Gly4193Arg Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Gly4302Ser Single submitter Inborn genetic diseases
  • p.Gly4316Arg Single submitter
  • p.Gly660Arg Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.His669Gln Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Ile2089Met Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Ile4069Phe Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Ile4136Thr Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Leu2356Phe Single submitter ⚠
  • p.Leu611Pro Single submitter
  • p.Lys2218Glu Single submitter HUWE1-related disorder
  • p.Lys3345Met Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Lys4236Asn Single submitter
  • p.Lys517Glu Single submitter HUWE1-related disorder
  • p.Met1376del Single submitter
  • p.Met1381Val Single submitter ⚠
  • p.Met2180Leu Single submitter intellectual disability, X-linked syndromic, Turner type ⚠
  • p.Phe3194Ser Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Phe4230Leu Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Pro377Ser Single submitter HUWE1-related disorder ⚠
  • p.Pro4076Ser Single submitter
  • p.Ser142Asn Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Ser3258Arg Single submitter ⚠
  • p.Ser4240Phe Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Ser510Pro Single submitter
  • p.Ser661Cys Single submitter
  • p.Thr3131Ile Single submitter ⚠
  • p.Tyr4106Cys Single submitter intellectual disability, X-linked syndromic, Turner type
  • p.Val2222Phe Single submitter
  • p.Val4207Ile Single submitter intellectual disability, X-linked syndromic, Turner type ⚠
  • p.Val663Ile Single submitter
  • p.Val777Met Single submitter HUWE1-related disorder ⚠
  • p.Arg1080His No assertion criteria intellectual disability, X-linked syndromic, Turner type
  • p.Asp4164del No assertion criteria HUWE1-related disorder
  • p.Gly4229Arg No assertion criteria intellectual disability, X-linked syndromic, Turner type
  • p.Ser990Ter No assertion criteria intellectual disability, X-linked syndromic, Turner type

Conflicting classifications of pathogenicity 85

Benign 227

Benign/Likely benign 101

Likely benign 580

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

Uncertain significance 1015

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