Sugi Variant

Sugi Variant/U2AF2

U2AF2 — 94 ClinVar variants

All ClinVar germline U2AF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →

4 Pathogenic · 3 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 1 Conflicting · 3 Benign · 16 Likely benign · 61 Uncertain significance

Full U2AF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 55

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 lean, ClinVar uncertain 30

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

Predictors split 25

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

All U2AF2 variants

Pathogenic 4

Pathogenic/Likely pathogenic 3

  • p.Arg149Gln Multiple submitters U2AF2-related disorders
  • p.Arg150Cys Multiple submitters developmental delay, dysmorphic facies, and brain anomalies
  • p.Arg150His Multiple submitters developmental delay, dysmorphic facies, and brain anomalies

Likely pathogenic 6

  • p.Gly265Asp Single submitter developmental delay, dysmorphic facies, and brain anomalies
  • p.Pro123Leu Single submitter ⚠
  • p.Thr145Ile Single submitter developmental delay, dysmorphic facies, and brain anomalies ⚠
  • p.Tyr232His Single submitter developmental delay, dysmorphic facies, and brain anomalies
  • p.Val249Asp Single submitter neurodevelopmental disorder
  • p.Pro157Leu No assertion criteria leukodystrophy ⚠

Conflicting classifications of pathogenicity 1

Benign 3

Likely benign 16

Uncertain significance 61