Sugi Variant

Sugi Variant/GFER

GFER — 172 ClinVar variants

All ClinVar germline GFER variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →

3 Pathogenic · 4 Likely pathogenic · 8 Conflicting · 14 Benign · 1 Benign/Likely benign · 70 Likely benign · 72 Uncertain significance

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

⚑ Evidence disagreements 68

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 3

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

Predictors lean, ClinVar uncertain 54

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

Predictors split 11

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

All GFER variants

Pathogenic 3

  • p.Arg194His Multiple submitters congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
  • p.Ser189Ter Multiple submitters Inborn genetic diseases
  • p.Asp192Gly No assertion criteria congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Likely pathogenic 4

  • c.259-25_259-24del Single submitter congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
  • p.Asp187Tyr Single submitter
  • p.Asp76Tyr Single submitter congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
  • p.Gln168Ter Single submitter

Conflicting classifications of pathogenicity 8

  • p.Arg179His Single submitter Inborn genetic diseases ⚠
  • p.Arg194Cys Single submitter congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome ⚠
  • p.Arg196His Single submitter Inborn genetic diseases ⚠
  • p.Arg67fs Single submitter congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
  • p.Asp197Glu Single submitter ⚠
  • p.Gln125Ter Single submitter congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
  • p.Glu63Asp Single submitter Inborn genetic diseases ⚠
  • p.Pro184Thr Single submitter Inborn genetic diseases ⚠

Benign 14

Benign/Likely benign 1

Likely benign 70

Uncertain significance 72