Sugi Variant

Sugi Variant/OTOGL

OTOGL — 1278 ClinVar variants

All ClinVar germline OTOGL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

39 Pathogenic · 23 Pathogenic/Likely pathogenic · 49 Likely pathogenic · 59 Conflicting · 161 Benign · 46 Benign/Likely benign · 325 Likely benign · 576 Uncertain significance

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

All OTOGL variants

Pathogenic 39

Pathogenic/Likely pathogenic 23

  • c.1441+2T>C Multiple submitters autosomal recessive nonsyndromic hearing loss 84B
  • p.Ala2055fs Multiple submitters autosomal recessive nonsyndromic hearing loss 84B
  • p.Arg1425Ter Multiple submitters OTOGL-related disorder
  • p.Arg1515Ter Multiple submitters Inborn genetic diseases
  • p.Arg1672Ter Multiple submitters Rare genetic deafness
  • p.Arg1817Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 84B
  • p.Arg1915Ter Multiple submitters
  • p.Arg2263Ter Multiple submitters OTOGL-related disorder
  • p.Arg497Ter Multiple submitters OTOGL-related disorder
  • p.Arg954Ter Multiple submitters OTOGL-related disorder
  • p.Cys1167Ter Multiple submitters
  • p.Cys1383fs Multiple submitters OTOGL-related disorder
  • p.Gln529Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 84B
  • p.Leu1028fs Multiple submitters OTOGL-related disorder
  • p.Leu22fs Multiple submitters autosomal recessive nonsyndromic hearing loss 84B
  • p.Leu325fs Multiple submitters Rare genetic deafness
  • p.Leu450Ter Multiple submitters OTOGL-related disorder
  • p.Met10Val Multiple submitters autosomal recessive nonsyndromic hearing loss 84B
  • p.Met1447fs Multiple submitters Rare genetic deafness
  • p.Met281fs Multiple submitters Rare genetic deafness
  • p.Ser2165Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 84B
  • p.Trp2210fs Multiple submitters autosomal recessive nonsyndromic hearing loss 84B
  • p.Trp647Ter Multiple submitters Inborn genetic diseases

Likely pathogenic 49

  • c.1890-1G>T Multiple submitters autosomal recessive nonsyndromic hearing loss 84B
  • c.3213+1G>A Multiple submitters Inborn genetic diseases
  • c.3635-2A>G Multiple submitters
  • c.1159+2T>C Single submitter OTOGL-related disorder
  • c.119+1G>A Single submitter Rare genetic deafness
  • c.168+1G>A Single submitter autosomal recessive nonsyndromic hearing loss 84B
  • c.1711+1G>A Single submitter
  • c.2789+1G>A Single submitter
  • c.3334-1G>C Single submitter autosomal recessive nonsyndromic hearing loss 84B
  • c.334+1G>C Single submitter
  • c.4082-1G>C Single submitter Rare genetic deafness
  • c.4600+1G>T Single submitter autosomal recessive nonsyndromic hearing loss 84B
  • c.4601-2A>G Single submitter Rare genetic deafness
  • c.612-2A>G Single submitter
  • c.6736-2A>G Single submitter
  • c.817+1G>T Single submitter
  • p.Asn1674fs Single submitter Rare genetic deafness
  • p.Asn284fs Single submitter autosomal recessive nonsyndromic hearing loss 84B
  • p.Asn442fs Single submitter autosomal recessive nonsyndromic hearing loss 84B
  • p.Asp1057fs Single submitter autosomal recessive nonsyndromic hearing loss 84B
  • p.Asp2114fs Single submitter OTOGL-related disorder
  • p.Asp663fs Single submitter autosomal recessive nonsyndromic hearing loss 84B
  • p.Cys1512fs Single submitter autosomal recessive nonsyndromic hearing loss 84B
  • p.Cys1737Ter Single submitter autosomal recessive nonsyndromic hearing loss 84B
  • p.Cys2047fs Single submitter OTOGL-related disorder
  • p.Cys505Ter Single submitter OTOGL-related disorder
  • p.Cys944Ter Single submitter OTOGL-related disorder
  • p.Gln128fs Single submitter OTOGL-related disorder
  • p.Gln1495fs Single submitter nonsyndromic genetic hearing loss
  • p.Gln523Ter Single submitter Rare genetic deafness
  • p.Glu788_Asp789insTer Single submitter Rare genetic deafness
  • p.Gly1076Ter Single submitter OTOGL-related disorder
  • p.Gly1883fs Single submitter autosomal recessive nonsyndromic hearing loss 84B
  • p.Gly616Asp Single submitter autosomal recessive nonsyndromic hearing loss 84B
  • p.Met2196fs Single submitter autosomal recessive nonsyndromic hearing loss 84B
  • p.Ser1006Ter Single submitter autosomal recessive nonsyndromic hearing loss 84B
  • p.Ser1114fs Single submitter OTOGL-related disorder
  • p.Ser1268Ter Single submitter OTOGL-related disorder
  • p.Ser1633fs Single submitter autosomal recessive nonsyndromic hearing loss 84B
  • p.Ser1676Ter Single submitter autosomal recessive nonsyndromic hearing loss 84B
  • p.Trp1056Ter Single submitter Rare genetic deafness
  • p.Trp13Ter Single submitter Rare genetic deafness
  • p.Trp1494Ter Single submitter autosomal recessive nonsyndromic hearing loss 84B
  • p.Trp1715Ter Single submitter OTOGL-related disorder
  • p.Tyr1254fs Single submitter
  • p.Tyr951Ter Single submitter
  • c.4279+1G>A No assertion criteria autosomal recessive nonsyndromic hearing loss 84B
  • c.6267+1G>T No assertion criteria OTOGL-related disorder
  • p.Arg933Ter No assertion criteria OTOGL-related disorder

Conflicting classifications of pathogenicity 59

Benign 161

Benign/Likely benign 46

Likely benign 325

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 576

Showing the top 300 by review status; the full set is in the sitemap.