Sugi Variant

Sugi Variant/GJB2

GJB2 — 610 ClinVar variants

All ClinVar germline GJB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 210 flagged for review →

100 Pathogenic · 54 Pathogenic/Likely pathogenic · 86 Likely pathogenic · 55 Conflicting · 13 Benign · 12 Benign/Likely benign · 109 Likely benign · 181 Uncertain significance

Full GJB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 210

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 12

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 26

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

Predictors lean, ClinVar uncertain 83

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

Predictors split 89

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

All GJB2 variants

Pathogenic 100

  • p.Gly12fs Expert panel nonsyndromic genetic hearing loss
  • p.Leu56fs Expert panel nonsyndromic genetic hearing loss
  • p.Leu79fs Expert panel nonsyndromic genetic hearing loss
  • p.Met195Val Expert panel nonsyndromic genetic hearing loss
  • p.Met1Arg Expert panel nonsyndromic genetic hearing loss
  • p.Met1Ile Expert panel nonsyndromic genetic hearing loss
  • p.Met1Thr Expert panel nonsyndromic genetic hearing loss
  • p.Met1Val Expert panel nonsyndromic genetic hearing loss
  • p.Met34Thr Expert panel nonsyndromic genetic hearing loss ⚠
  • p.Ser19Thr Expert panel nonsyndromic genetic hearing loss ⚠
  • p.Trp172Cys Expert panel nonsyndromic genetic hearing loss
  • p.Trp24Ter Expert panel nonsyndromic genetic hearing loss
  • p.Val37Ile Expert panel nonsyndromic genetic hearing loss ⚠
  • p.Ala171fs Multiple submitters autosomal dominant keratitis-ichthyosis-hearing loss syndrome
  • p.Ala78Thr Multiple submitters autosomal recessive nonsyndromic hearing loss 1A ⚠
  • p.Ala88Val Multiple submitters autosomal dominant keratitis-ichthyosis-hearing loss syndrome ⚠
  • p.Arg184Pro Multiple submitters GJB2-related disorder
  • p.Arg32Cys Multiple submitters Rare genetic deafness
  • p.Arg32His Multiple submitters Monogenic hearing loss
  • p.Arg32Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Arg75Gln Multiple submitters GJB2-related disorder
  • p.Arg75Trp Multiple submitters nonsyndromic genetic hearing loss
  • p.Asn176Asp Multiple submitters IFAP syndrome 1, with or without BRESHECK syndrome
  • p.Asp50Asn Multiple submitters autosomal dominant keratitis-ichthyosis-hearing loss syndrome ⚠
  • p.Cys169Tyr Multiple submitters Rare genetic deafness
  • p.Gln124Ter Multiple submitters Rare genetic deafness
  • p.Gln57Ter Multiple submitters GJB2-related disorder
  • p.Glu120del Multiple submitters GJB2-related disorder
  • p.Glu129Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Glu147Lys Multiple submitters Rare genetic deafness
  • p.Glu47Ter Multiple submitters GJB2-related disorder
  • p.Gly11fs Multiple submitters GJB2-related disorder
  • p.Gly130Val Multiple submitters Inborn genetic diseases
  • p.Gly200Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Gly45Glu Multiple submitters Bart-Pumphrey syndrome
  • p.Gly59fs Multiple submitters GJB2-related disorder
  • p.His100fs Multiple submitters CREBBP-related disorder
  • p.Ile20Thr Multiple submitters nonsyndromic genetic hearing loss ⚠
  • p.Leu90Pro Multiple submitters Ichthyosis and erythrokeratoderma
  • p.Lys112fs Multiple submitters Rare genetic deafness
  • p.Ser17Phe Multiple submitters GJB2-related disorder
  • p.Ser199Phe Multiple submitters Rare genetic deafness
  • p.Thr86Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Trp133Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Trp44Ter Multiple submitters GJB2-related disorder
  • p.Trp77Ter Multiple submitters GJB2-related disorder
  • p.Tyr136Ter Multiple submitters
  • p.Tyr155Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Tyr65Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Tyr97Ter Multiple submitters Inborn genetic diseases
  • p.Val84Leu Multiple submitters GJB2-related disorder
  • p.Val84Met Multiple submitters GJB2-related disorder
  • p.Val91fs Multiple submitters Rare genetic deafness
  • p.? Single submitter
  • p.Ala149fs Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Ala40Gly Single submitter autosomal recessive nonsyndromic hearing loss 1A ⚠
  • p.Ala49fs Single submitter
  • p.Asn14Tyr Single submitter autosomal recessive nonsyndromic hearing loss 1A ⚠
  • p.Asn54fs Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Asp179Asn Single submitter autosomal dominant nonsyndromic hearing loss 3A
  • p.Asp66His Single submitter GJB2-related disorder
  • p.Cys53Tyr Single submitter hearing loss disorder
  • p.Cys60Gly Single submitter
  • p.Cys64Ter Single submitter
  • p.Gln164Ter Single submitter
  • p.Glu110fs Single submitter
  • p.Glu119fs Single submitter
  • p.Glu209fs Single submitter
  • p.His67fs Single submitter
  • p.Ile201fs Single submitter
  • p.Ile30Phe Single submitter ⚠
  • p.Ile82Val Single submitter autosomal recessive nonsyndromic hearing loss 1A ⚠
  • p.Leu166fs Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Leu204fs Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Leu81fs Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Leu89_Leu90insTer Single submitter
  • p.Lys105fs Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Lys116Ter Single submitter
  • p.Met151fs Single submitter
  • p.Met157fs Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Phe142Leu Single submitter Rare genetic deafness ⚠
  • p.Ser72fs Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Thr123fs Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Thr18fs Single submitter
  • p.Thr26fs Single submitter
  • p.Trp133_Trp134insTer Single submitter
  • p.Trp134Ter Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Trp172fs Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Trp3Ter Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Tyr158Ter Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Val190fs Single submitter
  • p.Val198Met Single submitter
  • p.Val27fs Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Val37fs Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Asn54Lys No assertion criteria Bart-Pumphrey syndrome
  • p.Asp46fs No assertion criteria autosomal recessive nonsyndromic hearing loss 1A
  • p.Cys53Ser No assertion criteria autosomal recessive nonsyndromic hearing loss 1A
  • p.His73Arg No assertion criteria palmoplantar keratoderma-deafness syndrome
  • p.Lys22Asn No assertion criteria palmoplantar keratoderma-deafness syndrome
  • p.Phe150fs No assertion criteria nonsyndromic genetic hearing loss

Pathogenic/Likely pathogenic 54

  • c.-23+1G>A Multiple submitters Monogenic hearing loss
  • p.Ala40Glu Multiple submitters Rare genetic deafness ⚠
  • p.Ala78fs Multiple submitters nonsyndromic genetic hearing loss
  • p.Arg127Cys Multiple submitters Rare genetic deafness ⚠
  • p.Arg143Gln Multiple submitters GJB2-related disorder
  • p.Arg143Trp Multiple submitters GJB2-related disorder
  • p.Arg184Gln Multiple submitters Monogenic hearing loss ⚠
  • p.Arg184Trp Multiple submitters GJB2-related disorder
  • p.Arg216fs Multiple submitters Inborn genetic diseases
  • p.Arg32fs Multiple submitters
  • p.Arg32Leu Multiple submitters GJB2-related disorder
  • p.Asn14Asp Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Asn14fs Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Asn206Ser Multiple submitters GJB2-related disorder ⚠
  • p.Asp46Asn Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Cys202Ter Multiple submitters autosomal dominant nonsyndromic hearing loss 3A
  • p.Cys211fs Multiple submitters GJB2-related disorder
  • p.Gln7Ter Multiple submitters Rare genetic deafness
  • p.Gln80Pro Multiple submitters Rare genetic deafness
  • p.Gln80Ter Multiple submitters ichthyosis, hystrix-like, with hearing loss
  • p.Glu42del Multiple submitters nonsyndromic genetic hearing loss
  • p.Gly12Val Multiple submitters Rare genetic deafness ⚠
  • p.Gly200Ter Multiple submitters GJB2-related disorder
  • p.Gly4fs Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Gly59Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Gly59Val Multiple submitters
  • p.His100Leu Multiple submitters nonsyndromic genetic hearing loss ⚠
  • p.His100Tyr Multiple submitters Monogenic hearing loss ⚠
  • p.Ile20Met Multiple submitters ichthyosis, hystrix-like, with hearing loss ⚠
  • p.Ile33Thr Multiple submitters Monogenic hearing loss ⚠
  • p.Ile35Ser Multiple submitters nonsyndromic genetic hearing loss
  • p.Ile82Met Multiple submitters GJB2-related disorder ⚠
  • p.Leu10fs Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Leu205Pro Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Lys122Ile Multiple submitters GJB2-related disorder ⚠
  • p.Lys15Thr Multiple submitters GJB2-related disorder ⚠
  • p.Met93Ile Multiple submitters Rare genetic deafness ⚠
  • p.Pro175fs Multiple submitters Rare genetic deafness
  • p.Pro70Ala Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Ser139Asn Multiple submitters GJB2-related disorder ⚠
  • p.Thr192fs Multiple submitters GJB2-related disorder
  • p.Trp172Arg Multiple submitters keratoderma hereditarium mutilans
  • p.Trp172Ter Multiple submitters autosomal dominant keratitis-ichthyosis-hearing loss syndrome
  • p.Trp77Arg Multiple submitters GJB2-related disorder
  • p.Tyr152Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Val13fs Multiple submitters GJB2-related disorder
  • p.Val178Ala Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Val193fs Multiple submitters nonsyndromic genetic hearing loss
  • p.Val198_Gly200delinsGlnCysSerTer Multiple submitters Rare genetic deafness
  • p.Val37Phe Multiple submitters Rare genetic deafness ⚠
  • p.Val43Ala Multiple submitters Bart-Pumphrey syndrome ⚠
  • p.Val52fs Multiple submitters autosomal dominant keratitis-ichthyosis-hearing loss syndrome
  • p.Val95Met Multiple submitters GJB2-related disorder
  • p.Glu119Ter No assertion criteria hearing loss, autosomal recessive

Likely pathogenic 86

  • c.-22-2A>C Expert panel nonsyndromic genetic hearing loss
  • p.Gly12Cys Expert panel nonsyndromic genetic hearing loss ⚠
  • p.Leu76Pro Expert panel nonsyndromic genetic hearing loss
  • p.Lys188Arg Expert panel nonsyndromic genetic hearing loss
  • p.Met195Thr Expert panel nonsyndromic genetic hearing loss
  • p.Met1Leu Expert panel nonsyndromic genetic hearing loss
  • p.Val37Ala Expert panel nonsyndromic genetic hearing loss ⚠
  • p.Cys169Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Gln80Lys Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Gly109Val Multiple submitters nonsyndromic genetic hearing loss
  • p.Gly11Glu Multiple submitters GJB2-related disorder ⚠
  • p.Gly130Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Pro173Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Thr186Ala Multiple submitters GJB2-related disorder
  • p.Val63Met Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • c.-22-1G>A Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • c.-23+2T>G Single submitter autosomal dominant keratitis-ichthyosis-hearing loss syndrome
  • p.Ala40Thr Single submitter ⚠
  • p.Ala78Asp Single submitter
  • p.Ala88Gly Single submitter nonsyndromic genetic hearing loss ⚠
  • p.Ala96fs Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Arg143Leu Single submitter nonsyndromic genetic hearing loss
  • p.Arg143Pro Single submitter keratoderma hereditarium mutilans
  • p.Arg165fs Single submitter autosomal dominant keratitis-ichthyosis-hearing loss syndrome
  • p.Arg184Gly Single submitter nonsyndromic genetic hearing loss
  • p.Asn14Ile Single submitter ⚠
  • p.Asn14Lys Single submitter autosomal recessive nonsyndromic hearing loss 1A ⚠
  • p.Asn14Ser Single submitter ⚠
  • p.Asn54Asp Single submitter
  • p.Asp46His Single submitter
  • p.Asp50Tyr Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Cys174Tyr Single submitter nonsyndromic genetic hearing loss
  • p.Cys202Phe Single submitter autosomal dominant nonsyndromic hearing loss 3A
  • p.Cys53Phe Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Gln80His Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Glu209Ala Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Gly12Arg Single submitter autosomal recessive nonsyndromic hearing loss 1A ⚠
  • p.Gly130Asp Single submitter GJB2-related disorder
  • p.Gly45fs Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Gly59Ala Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Gly59Asp Single submitter Rare genetic deafness
  • p.His73Tyr Single submitter
  • p.Ile140Met Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Ile30Thr Single submitter ⚠
  • p.Leu214Arg Single submitter
  • p.Leu28Val Single submitter ⚠
  • p.Leu79Gln Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Leu89Pro Single submitter
  • p.Met195Leu Single submitter ⚠
  • p.Met93Leu Single submitter ⚠
  • p.Met93Val Single submitter
  • p.Phe194Leu Single submitter autosomal dominant nonsyndromic hearing loss 3A ⚠
  • p.Phe29del Single submitter
  • p.Phe69Leu Single submitter
  • p.Phe69Ser Single submitter
  • p.Phe83fs Single submitter nonsyndromic genetic hearing loss
  • p.Pro173Arg Single submitter
  • p.Pro175Arg Single submitter autosomal dominant keratitis-ichthyosis-hearing loss syndrome ⚠
  • p.Pro58fs Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Pro58Ser Single submitter autosomal dominant nonsyndromic hearing loss 3A
  • p.Ser139Cys Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Ser183Phe Single submitter
  • p.Ser199Ala Single submitter ⚠
  • p.Ser199fs Single submitter GJB2-related disorder
  • p.Ser199Pro Single submitter
  • p.Ser19Ile Single submitter ⚠
  • p.Ser85Pro Single submitter autosomal dominant keratitis-ichthyosis-hearing loss syndrome
  • p.Thr18Ile Single submitter autosomal dominant nonsyndromic hearing loss 3A
  • p.Thr86Ala Single submitter ⚠
  • p.Trp24Cys Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Trp44Cys Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Trp44fs Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Trp44Ser Single submitter Inborn genetic diseases
  • p.Tyr158_Asp159insValPheTyrValMetTyr Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Val167fs Single submitter autosomal dominant keratitis-ichthyosis-hearing loss syndrome
  • p.Val198fs Single submitter GJB2-related disorder
  • p.Val38Glu Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Val43Gly Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Val63Leu Single submitter
  • p.Val84Ala Single submitter
  • p.Arg75Gly No assertion criteria Hearing loss
  • p.Glu114_Phe115insTer No assertion criteria autosomal recessive nonsyndromic hearing loss 1A
  • p.Lys223fs No assertion criteria autosomal recessive nonsyndromic hearing loss 1A
  • p.Ser17fs No assertion criteria autosomal recessive nonsyndromic hearing loss 1A
  • p.Thr137Pro No assertion criteria autosomal recessive nonsyndromic hearing loss 1A
  • p.Thr86fs No assertion criteria autosomal recessive nonsyndromic hearing loss 1A

Conflicting classifications of pathogenicity 55

  • c.-22-2A>G Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • c.-22-6T>C Single submitter ichthyosis, hystrix-like, with hearing loss
  • c.-23G>T Single submitter Rare genetic deafness
  • c.-30C>T Single submitter
  • c.-6T>A Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • c.*1016A>G Single submitter ichthyosis, hystrix-like, with hearing loss
  • c.*1033G>A Single submitter ichthyosis, hystrix-like, with hearing loss
  • c.*1C>T Single submitter nonsyndromic genetic hearing loss
  • c.*786G>A Single submitter ichthyosis, hystrix-like, with hearing loss
  • p.Ala171Thr Single submitter autosomal recessive nonsyndromic hearing loss 1A ⚠
  • p.Ala40= Single submitter ichthyosis, hystrix-like, with hearing loss
  • p.Ala49Val Single submitter autosomal recessive nonsyndromic hearing loss 1A ⚠
  • p.Ala78Ser Single submitter nonsyndromic genetic hearing loss ⚠
  • p.Arg127Leu Single submitter autosomal recessive nonsyndromic hearing loss 1A ⚠
  • p.Arg165Trp Single submitter autosomal dominant nonsyndromic hearing loss 3A ⚠
  • p.Arg32Pro Single submitter ⚠
  • p.Asn170= Single submitter autosomal dominant nonsyndromic hearing loss 3A
  • p.Asn176Ser Single submitter autosomal recessive nonsyndromic hearing loss 1A ⚠
  • p.Asn54Ser Single submitter ichthyosis, hystrix-like, with hearing loss ⚠
  • p.Asp179His Single submitter autosomal recessive nonsyndromic hearing loss 1A ⚠
  • p.Asp66Asn Single submitter autosomal recessive nonsyndromic hearing loss 1A ⚠
  • p.Asp66Tyr Single submitter sensorineural hearing loss disorder ⚠
  • p.Cys202Arg Single submitter ⚠
  • p.Cys211Tyr Single submitter nonsyndromic genetic hearing loss ⚠
  • p.Glu119Lys Single submitter ichthyosis, hystrix-like, with hearing loss ⚠
  • p.Glu147Gly Single submitter ⚠
  • p.Glu187Gly Single submitter GJB2-related disorder ⚠
  • p.Glu42Asp Single submitter autosomal recessive nonsyndromic hearing loss 1A ⚠
  • p.Glu47Lys Single submitter ⚠
  • p.Gly12Asp Single submitter autosomal recessive nonsyndromic hearing loss 1A ⚠
  • p.Gly130Ala Single submitter Rare genetic deafness ⚠
  • p.Gly160Ser Single submitter Nonsyndromic Deafness ⚠
  • p.Gly45Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly4Asp Single submitter ichthyosis, hystrix-like, with hearing loss ⚠
  • p.Gly59Ser Single submitter autosomal recessive nonsyndromic hearing loss 1A ⚠
  • p.Ile128Val Single submitter nonsyndromic genetic hearing loss
  • p.Leu210= Single submitter
  • p.Leu81Val Single submitter ichthyosis, hystrix-like, with hearing loss ⚠
  • p.Leu89Phe Single submitter Nonsyndromic Deafness ⚠
  • p.Lys168Arg Single submitter nonsyndromic genetic hearing loss ⚠
  • p.Lys188fs Single submitter Rare genetic deafness
  • p.Met163Val Single submitter X-linked mixed hearing loss with perilymphatic gusher ⚠
  • p.Met34Arg Single submitter GJB2-related disorder ⚠
  • p.Phe83del Single submitter autosomal recessive nonsyndromic hearing loss 1A
  • p.Thr86Met Single submitter autosomal recessive nonsyndromic hearing loss 1A ⚠
  • p.Trp24Ser Single submitter GJB2-related disorder ⚠
  • p.Tyr155Cys Single submitter autosomal recessive nonsyndromic hearing loss 1A ⚠
  • p.Tyr65Cys Single submitter GJB2-related disorder ⚠
  • p.Tyr65His Single submitter keratoderma hereditarium mutilans ⚠
  • p.Val13Met Single submitter ichthyosis, hystrix-like, with hearing loss ⚠
  • p.Val167Ala Single submitter ⚠
  • p.Val167Met Single submitter keratoderma hereditarium mutilans ⚠
  • p.Val178Leu Single submitter ⚠
  • p.Val63Ala Single submitter autosomal dominant keratitis-ichthyosis-hearing loss syndrome ⚠
  • p.Val95Ala Single submitter autosomal recessive nonsyndromic hearing loss 1A ⚠

Benign 13

  • c.-22-12C>T Multiple submitters nonsyndromic genetic hearing loss
  • c.*104A>T Multiple submitters ichthyosis, hystrix-like, with hearing loss
  • c.*1067G>T Multiple submitters ichthyosis, hystrix-like, with hearing loss
  • c.*111C>T Multiple submitters autosomal dominant keratitis-ichthyosis-hearing loss syndrome
  • c.*1152G>A Multiple submitters ichthyosis, hystrix-like, with hearing loss
  • c.*1277T>C Multiple submitters ichthyosis, hystrix-like, with hearing loss
  • c.*168A>G Multiple submitters ichthyosis, hystrix-like, with hearing loss
  • c.*84T>C Multiple submitters ichthyosis, hystrix-like, with hearing loss
  • c.*931C>T Multiple submitters ichthyosis, hystrix-like, with hearing loss
  • p.Ile203Thr Multiple submitters autosomal dominant keratitis-ichthyosis-hearing loss syndrome ⚠
  • p.Val27Ile Multiple submitters nonsyndromic genetic hearing loss
  • c.-22-332C>A Single submitter
  • c.-23+792C>T Single submitter

Benign/Likely benign 12

  • c.-15C>T Multiple submitters ichthyosis, hystrix-like, with hearing loss
  • c.-216T>G Multiple submitters autosomal dominant keratitis-ichthyosis-hearing loss syndrome
  • c.-23+12G>A Multiple submitters
  • c.-45C>A Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • c.*1197T>A Multiple submitters ichthyosis, hystrix-like, with hearing loss
  • c.*3C>A Multiple submitters ichthyosis, hystrix-like, with hearing loss
  • p.Arg127His Multiple submitters nonsyndromic genetic hearing loss
  • p.Glu114Gly Multiple submitters autosomal dominant keratitis-ichthyosis-hearing loss syndrome ⚠
  • p.Phe83Leu Multiple submitters keratoderma hereditarium mutilans ⚠
  • p.Ser138Gly Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
  • p.Thr123Asn Multiple submitters keratoderma hereditarium mutilans
  • p.Val153Ile Multiple submitters autosomal dominant keratitis-ichthyosis-hearing loss syndrome

Likely benign 109

Uncertain significance 181