Sugi Variant

Sugi Variant/ILDR1

ILDR1 — 346 ClinVar variants

All ClinVar germline ILDR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 186 flagged for review →

17 Pathogenic · 10 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 18 Conflicting · 17 Benign · 9 Benign/Likely benign · 76 Likely benign · 189 Uncertain significance

Full ILDR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 186

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 8

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

Predictors lean, ClinVar uncertain 144

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

Predictors split 34

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

All ILDR1 variants

Pathogenic 17

  • p.Gln274Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 42
  • p.Arg106fs Single submitter
  • p.Arg33_Tyr34insTer Single submitter autosomal recessive nonsyndromic hearing loss 42
  • p.Asn93fs Single submitter
  • p.Gln269Ter Single submitter
  • p.Gln381Ter Single submitter autosomal recessive nonsyndromic hearing loss 42
  • p.Glu394fs Single submitter autosomal recessive nonsyndromic hearing loss 42
  • p.Met1Thr Single submitter
  • p.Ser359fs Single submitter
  • p.Ser83fs Single submitter autosomal recessive nonsyndromic hearing loss 42
  • p.Trp10fs Single submitter autosomal recessive nonsyndromic hearing loss 42
  • p.Trp240Ter Single submitter
  • p.Trp3Ter Single submitter Childhood onset hearing loss
  • p.Tyr144Ter Single submitter
  • p.Val99fs Single submitter autosomal recessive nonsyndromic hearing loss 42
  • p.Glu215Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 42
  • p.Glu379Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 42

Pathogenic/Likely pathogenic 10

  • p.Arg259Ter Multiple submitters ILDR1-related disorder
  • p.Arg462Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 42
  • p.Asp305fs Multiple submitters autosomal recessive nonsyndromic hearing loss 42
  • p.Cys314Ter Multiple submitters ILDR1-related disorders
  • p.Gln195Ter Multiple submitters ILDR1-related disorders
  • p.Gly141Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 42
  • p.Ser249fs Multiple submitters autosomal recessive nonsyndromic hearing loss 42
  • p.Met1Ile No assertion criteria autosomal recessive nonsyndromic hearing loss 42
  • p.Thr345fs No assertion criteria hearing loss, autosomal recessive
  • p.Trp388fs No assertion criteria hearing loss, autosomal recessive

Likely pathogenic 10

  • p.Arg120fs Single submitter autosomal recessive nonsyndromic hearing loss 42
  • p.Arg33fs Single submitter ILDR1-related disorders
  • p.Asn126fs Single submitter nonsyndromic genetic hearing loss
  • p.His403fs Single submitter ILDR1-related disorders
  • p.Met270fs Single submitter autosomal recessive nonsyndromic hearing loss 42
  • p.Tyr34fs Single submitter autosomal recessive nonsyndromic hearing loss 42
  • p.Tyr78Ter Single submitter
  • p.Arg127Ter No assertion criteria ILDR1-related disorder
  • p.Glu379fs No assertion criteria hearing loss, autosomal recessive
  • p.Pro252fs No assertion criteria ILDR1-related disorder

Conflicting classifications of pathogenicity 18

Benign 17

Benign/Likely benign 9

Likely benign 76

Uncertain significance 189