Sugi Variant

Sugi Variant/UBE2A

UBE2A — 86 ClinVar variants

All ClinVar germline UBE2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →

8 Pathogenic · 15 Likely pathogenic · 1 Conflicting · 1 Benign · 3 Benign/Likely benign · 22 Likely benign · 36 Uncertain significance

Full UBE2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 26

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 1

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

Predictors lean, ClinVar uncertain 20

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 5

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

All UBE2A variants

Pathogenic 8

  • c.125+2T>C Single submitter
  • c.126-1G>A Single submitter
  • c.126-2A>G Single submitter syndromic X-linked intellectual disability Nascimento type
  • p.Gln110Glu Single submitter
  • p.Gly23Arg Single submitter syndromic X-linked intellectual disability Nascimento type
  • p.Trp36Ter Single submitter Inborn genetic diseases
  • p.Arg11Gln No assertion criteria syndromic X-linked intellectual disability Nascimento type
  • p.Gln128Ter No assertion criteria syndromic X-linked intellectual disability Nascimento type

Likely pathogenic 15

  • p.Asp101del Multiple submitters syndromic X-linked intellectual disability Nascimento type
  • c.125+1G>T Single submitter syndromic X-linked intellectual disability Nascimento type
  • c.242-3_244del Single submitter syndromic X-linked intellectual disability Nascimento type
  • c.330+1del Single submitter syndromic X-linked intellectual disability Nascimento type
  • c.330+1G>A Single submitter UBE2A-related disorder
  • c.330+1G>C Single submitter syndromic X-linked intellectual disability Nascimento type
  • c.331-1G>A Single submitter UBE2A-related disorder
  • p.Asp12_Arg15del Single submitter syndromic X-linked intellectual disability Nascimento type
  • p.Gln147Ter Single submitter syndromic X-linked intellectual disability Nascimento type
  • p.Met10Leu Single submitter Neurodevelopmental delay ⚠
  • p.Met1Arg Single submitter Inborn genetic diseases
  • p.Met1Val Single submitter Inborn genetic diseases
  • p.Val141fs Single submitter syndromic X-linked intellectual disability Nascimento type
  • p.Cys88fs No assertion criteria syndromic X-linked intellectual disability Nascimento type
  • p.Gln125fs No assertion criteria syndromic X-linked intellectual disability Nascimento type

Conflicting classifications of pathogenicity 1

Benign 1

Benign/Likely benign 3

Likely benign 22

Uncertain significance 36