Sugi Variant

Sugi Variant/HNRNPR

HNRNPR — 97 ClinVar variants

All ClinVar germline HNRNPR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →

4 Pathogenic · 3 Likely pathogenic · 12 Likely benign · 78 Uncertain significance

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

⚑ Evidence disagreements 71

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 45

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 HNRNPR variants

Pathogenic 4

  • p.Ala534fs Single submitter neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
  • p.Gln111fs Single submitter
  • p.Arg585His No assertion criteria neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities ⚠
  • p.Pro549fs No assertion criteria neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities

Likely pathogenic 3

Likely benign 12

Uncertain significance 78