GJB3 — 250 ClinVar variants
All ClinVar germline GJB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 134 flagged for review →
6 Pathogenic · 5 Likely pathogenic · 24 Conflicting · 18 Benign · 8 Benign/Likely benign · 33 Likely benign · 156 Uncertain significance
Full GJB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 134
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 16
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GJB3 p.Ala114Thr
Conflicting
Single submitter
erythrokeratodermia variabilis et progressiva 1
-
GJB3 p.Ala120Thr
Conflicting
Single submitter
Inborn genetic diseases
-
GJB3 p.Arg101Gln
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 2B
-
GJB3 p.Arg106Cys
Conflicting
Single submitter
Inborn genetic diseases
-
GJB3 p.Arg106His
Conflicting
Single submitter
erythrokeratodermia variabilis et progressiva 1
-
GJB3 p.Arg160His
Conflicting
Single submitter
erythrokeratodermia variabilis et progressiva 1
-
GJB3 p.Arg216Gln
Conflicting
Single submitter
Inborn genetic diseases
-
GJB3 p.Arg75Cys
Conflicting
Single submitter
Inborn genetic diseases
-
GJB3 p.Arg98His
Conflicting
Single submitter
Inborn genetic diseases
-
GJB3 p.Gln112Lys
Conflicting
Single submitter
Inborn genetic diseases
-
GJB3 p.Glu183Lys
Conflicting
Single submitter
erythrokeratodermia variabilis et progressiva 1
-
GJB3 p.Gly21Arg
Conflicting
Single submitter
Inborn genetic diseases
-
GJB3 p.His105Asn
Conflicting
Single submitter
Inborn genetic diseases
-
GJB3 p.Pro223Thr
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 1A
-
GJB3 p.Val167Met
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 1A
- GJB3 p.Val197Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 80
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GJB3 p.Ala114Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GJB3 p.Ala194Asp Uncertain significance Multiple submitters
-
GJB3 p.Ala196Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GJB3 p.Arg104Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GJB3 p.Arg224Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GJB3 p.Arg224Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GJB3 p.Arg240Cys Uncertain significance Multiple submitters
-
GJB3 p.Arg240His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GJB3 p.Asn54Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GJB3 p.Asp118Asn Uncertain significance Multiple submitters
- GJB3 p.Asp66Asn Uncertain significance Multiple submitters
-
GJB3 p.Asp66Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GJB3 p.Glu47Lys Uncertain significance Multiple submitters
-
GJB3 p.Gly125Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GJB3 p.His242Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GJB3 p.His243Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GJB3 p.Leu215Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GJB3 p.Met191Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GJB3 p.Pro169Leu Uncertain significance Multiple submitters
- GJB3 p.Thr130Ser Uncertain significance Multiple submitters
- GJB3 p.Thr18Ile Uncertain significance Multiple submitters
-
GJB3 p.Trp44Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GJB3 p.Trp44Ser Uncertain significance Multiple submitters
-
GJB3 p.Val27Met
Uncertain significance
Multiple submitters
erythrokeratodermia variabilis et progressiva 1
-
GJB3 p.Val35Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GJB3 p.Ala114Asp Uncertain significance Single submitter
-
GJB3 p.Ala165Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- GJB3 p.Ala168Asp Uncertain significance Single submitter
-
GJB3 p.Ala19Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GJB3 p.Ala233Thr Uncertain significance Single submitter
- GJB3 p.Ala264Thr Uncertain significance Single submitter
-
GJB3 p.Ala264Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GJB3 p.Ala40Glu Uncertain significance Single submitter
- GJB3 p.Ala78Asp Uncertain significance Single submitter
-
GJB3 p.Arg101Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- GJB3 p.Arg101Trp Uncertain significance Single submitter
-
GJB3 p.Arg103His
Uncertain significance
Single submitter
Inborn genetic diseases
- GJB3 p.Arg32Gln Uncertain significance Single submitter
- GJB3 p.Arg75His Uncertain significance Single submitter
- GJB3 p.Arg98Cys Uncertain significance Single submitter
- GJB3 p.Arg98Ser Uncertain significance Single submitter
-
GJB3 p.Asn166Ser
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 2B
- GJB3 p.Asp252Gly Uncertain significance Single submitter
-
GJB3 p.Cys164Tyr
Uncertain significance
Single submitter
erythrokeratodermia variabilis et progressiva 1
-
GJB3 p.Cys227Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- GJB3 p.Gln107His Uncertain significance Single submitter
- GJB3 p.Gln112Arg Uncertain significance Single submitter
- GJB3 p.Gln261His Uncertain significance Single submitter
-
GJB3 p.Gln80Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- GJB3 p.Glu99Lys Uncertain significance Single submitter
-
GJB3 p.Gly225Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- GJB3 p.Gly59Ser Uncertain significance Single submitter
-
GJB3 p.His124Arg
Uncertain significance
Single submitter
erythrokeratodermia variabilis et progressiva 1
-
GJB3 p.His219Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- GJB3 p.Ile199Val Uncertain significance Single submitter
- GJB3 p.Leu161Val Uncertain significance Single submitter
- GJB3 p.Leu206Phe Uncertain significance Single submitter
- GJB3 p.Lys115Thr Uncertain significance Single submitter
- GJB3 p.Lys184Arg Uncertain significance Single submitter
- GJB3 p.Lys259Arg Uncertain significance Single submitter
- GJB3 p.Lys56Gln Uncertain significance Single submitter
- GJB3 p.Met191Thr Uncertain significance Single submitter
-
GJB3 p.Phe51Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- GJB3 p.Phe51Val Uncertain significance Single submitter
-
GJB3 p.Pro159Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GJB3 p.Pro181Arg Uncertain significance Single submitter
- GJB3 p.Pro181Thr Uncertain significance Single submitter
-
GJB3 p.Pro223His
Uncertain significance
Single submitter
Inborn genetic diseases
- GJB3 p.Pro265Ser Uncertain significance Single submitter
- GJB3 p.Pro265Thr Uncertain significance Single submitter
- GJB3 p.Pro58Thr Uncertain significance Single submitter
- GJB3 p.Ser17Phe Uncertain significance Single submitter
-
GJB3 p.Ser17Tyr
Uncertain significance
Single submitter
erythrokeratodermia variabilis et progressiva 1
- GJB3 p.Ser228Asn Uncertain significance Single submitter
- GJB3 p.Ser230Leu Uncertain significance Single submitter
- GJB3 p.Trp44Leu Uncertain significance Single submitter
- GJB3 p.Val162Gly Uncertain significance Single submitter
- GJB3 p.Val246Leu Uncertain significance Single submitter
- GJB3 p.His109Asn Uncertain significance No assertion criteria
-
GJB3 p.Ile141Val
Uncertain significance
No assertion criteria
hearing loss, autosomal recessive
Predictors split 38
The independent predictors disagree with each other — read with care.
- GJB3 p.Arg22Cys Uncertain significance Multiple submitters
-
GJB3 p.Arg22His
Uncertain significance
Multiple submitters
erythrokeratodermia variabilis et progressiva 1
- GJB3 p.Asn73Lys Uncertain significance Multiple submitters
-
GJB3 p.Glu41Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GJB3 p.Gly110Arg Uncertain significance Multiple submitters
-
GJB3 p.Pro159Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GJB3 p.Val37Leu Uncertain significance Multiple submitters
- GJB3 p.Val37Met Benign/Likely benign Multiple submitters
-
GJB3 p.Val84Ile
Benign/Likely benign
Multiple submitters
erythrokeratodermia variabilis et progressiva 1
- GJB3 p.Val95Met Uncertain significance Multiple submitters
-
GJB3 p.Ala194Thr
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 2B
-
GJB3 p.Ala40Gly
Uncertain significance
Single submitter
erythrokeratodermia variabilis et progressiva 1
-
GJB3 p.Arg104Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- GJB3 p.Arg160Leu Uncertain significance Single submitter
- GJB3 p.Arg160Pro Uncertain significance Single submitter
-
GJB3 p.Arg22Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- GJB3 p.Cys204Tyr Uncertain significance Single submitter
- GJB3 p.Glu100Lys Likely pathogenic Single submitter
-
GJB3 p.Gly12Asp
Pathogenic
Single submitter
erythrokeratodermia variabilis et progressiva 1
- GJB3 p.Gly12Ser Likely pathogenic Single submitter
- GJB3 p.Ile141Asn Uncertain significance Single submitter
-
GJB3 p.Ile141Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GJB3 p.Ile178Thr Uncertain significance Single submitter
-
GJB3 p.Ile82Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GJB3 p.Leu116Arg
Uncertain significance
Single submitter
erythrokeratodermia variabilis et progressiva 1
- GJB3 p.Leu81Val Uncertain significance Single submitter
-
GJB3 p.Phe20Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- GJB3 p.Phe83Leu Uncertain significance Single submitter
- GJB3 p.Ser232Phe Uncertain significance Single submitter
-
GJB3 p.Thr188Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- GJB3 p.Tyr147His Uncertain significance Single submitter
-
GJB3 p.Tyr97Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- GJB3 p.Val28Leu Uncertain significance Single submitter
- GJB3 p.Val43Ala Uncertain significance Single submitter
- GJB3 p.Val63Ile Conflicting Single submitter
-
GJB3 p.Arg42Pro
Pathogenic
No assertion criteria
erythrokeratodermia variabilis et progressiva 1
-
GJB3 p.Cys86Ser
Pathogenic
No assertion criteria
erythrokeratodermia variabilis et progressiva 1
-
GJB3 p.Gly12Arg
Pathogenic
No assertion criteria
erythrokeratodermia variabilis et progressiva 1
All GJB3 variants
Pathogenic 6
- p.Gly12Asp Single submitter erythrokeratodermia variabilis et progressiva 1 ⚠
- p.Leu34Pro Single submitter autosomal dominant nonsyndromic hearing loss 2B
- p.Arg42Pro No assertion criteria erythrokeratodermia variabilis et progressiva 1 ⚠
- p.Cys86Ser No assertion criteria erythrokeratodermia variabilis et progressiva 1 ⚠
- p.Gly12Arg No assertion criteria erythrokeratodermia variabilis et progressiva 1 ⚠
- p.Trp3Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 1A
Likely pathogenic 5
- p.Glu100Lys Single submitter ⚠
- p.Gly12Ser Single submitter ⚠
- p.Gly45Ala Single submitter
- p.Gly45Glu Single submitter Ichthyosis and erythrokeratoderma
- p.Val37Glu Single submitter
Conflicting classifications of pathogenicity 24
- c.-3G>A Single submitter erythrokeratodermia variabilis et progressiva 1
- c.-4C>T Single submitter
- p.Ala114Thr Single submitter erythrokeratodermia variabilis et progressiva 1 ⚠
- p.Ala120Thr Single submitter Inborn genetic diseases ⚠
- p.Ala194Thr Single submitter autosomal dominant nonsyndromic hearing loss 2B ⚠
- p.Arg101Gln Single submitter autosomal dominant nonsyndromic hearing loss 2B ⚠
- p.Arg106Cys Single submitter Inborn genetic diseases ⚠
- p.Arg106His Single submitter erythrokeratodermia variabilis et progressiva 1 ⚠
- p.Arg160His Single submitter erythrokeratodermia variabilis et progressiva 1 ⚠
- p.Arg216Gln Single submitter Inborn genetic diseases ⚠
- p.Arg235Ter Single submitter Nonsyndromic Deafness
- p.Arg42= Single submitter erythrokeratodermia variabilis et progressiva 1
- p.Arg75Cys Single submitter Inborn genetic diseases ⚠
- p.Arg98His Single submitter Inborn genetic diseases ⚠
- p.Asp66del Single submitter hearing loss disorder
- p.Gln112Lys Single submitter Inborn genetic diseases ⚠
- p.Glu183Lys Single submitter erythrokeratodermia variabilis et progressiva 1 ⚠
- p.Gly21Arg Single submitter Inborn genetic diseases ⚠
- p.His105Asn Single submitter Inborn genetic diseases ⚠
- p.Leu218_Asp221del Single submitter autosomal recessive nonsyndromic hearing loss 1A
- p.Pro223Thr Single submitter autosomal recessive nonsyndromic hearing loss 1A ⚠
- p.Val167Met Single submitter autosomal recessive nonsyndromic hearing loss 1A ⚠
- p.Val197Ile Single submitter ⚠
- p.Val63Ile Single submitter ⚠
Benign 18
- c.-141C>G Multiple submitters erythrokeratodermia variabilis et progressiva 1
- c.-25-46A>G Multiple submitters
- c.*218C>A Multiple submitters erythrokeratodermia variabilis et progressiva 1
- c.*369G>C Multiple submitters erythrokeratodermia variabilis et progressiva 1
- c.*434G>A Multiple submitters erythrokeratodermia variabilis et progressiva 1
- c.*43C>A Multiple submitters erythrokeratodermia variabilis et progressiva 1
- c.*493C>T Multiple submitters erythrokeratodermia variabilis et progressiva 1
- c.*53G>A Multiple submitters erythrokeratodermia variabilis et progressiva 1
- c.*559G>C Multiple submitters erythrokeratodermia variabilis et progressiva 1
- p.Arg32Trp Multiple submitters erythrokeratodermia variabilis et progressiva 1
- p.Asn119= Multiple submitters erythrokeratodermia variabilis et progressiva 1
- p.Pro159= Multiple submitters erythrokeratodermia variabilis et progressiva 1
- p.Tyr189= Multiple submitters erythrokeratodermia variabilis et progressiva 1
- p.Val200Ile Multiple submitters erythrokeratodermia variabilis et progressiva 1
- c.-407C>T Single submitter erythrokeratodermia variabilis et progressiva 1
- c.-40G>A Single submitter erythrokeratodermia variabilis et progressiva 1
- c.*13G>A Single submitter erythrokeratodermia variabilis et progressiva 1
- c.*626C>G Single submitter erythrokeratodermia variabilis et progressiva 1
Benign/Likely benign 8
- p.Asn266= Multiple submitters erythrokeratodermia variabilis et progressiva 1
- p.Asn62= Multiple submitters erythrokeratodermia variabilis et progressiva 1
- p.Gly193= Multiple submitters autosomal dominant nonsyndromic hearing loss 2B
- p.His124= Multiple submitters erythrokeratodermia variabilis et progressiva 1
- p.Ser88= Multiple submitters erythrokeratodermia variabilis et progressiva 1
- p.Tyr177Asp Multiple submitters erythrokeratodermia variabilis et progressiva 1
- p.Val37Met Multiple submitters ⚠
- p.Val84Ile Multiple submitters erythrokeratodermia variabilis et progressiva 1 ⚠
Likely benign 33
- c.*231G>A Multiple submitters erythrokeratodermia variabilis et progressiva 1
- p.Ala19= Multiple submitters
- p.Asn166= Multiple submitters
- p.Cys113= Multiple submitters
- p.Gly59= Multiple submitters
- p.Leu245= Multiple submitters
- p.Lys220= Multiple submitters erythrokeratodermia variabilis et progressiva 1
- p.Ser11= Multiple submitters
- p.Thr182= Multiple submitters
- p.Val214= Multiple submitters
- p.Val33= Multiple submitters
- c.-18C>T Single submitter erythrokeratodermia variabilis et progressiva 1
- p.Glu99= Single submitter
- p.Gly126= Single submitter
- p.His154= Single submitter
- p.His242= Single submitter
- p.His94= Single submitter
- p.Ile140= Single submitter
- p.Leu127= Single submitter
- p.Leu215= Single submitter
- p.Leu79= Single submitter
- p.Leu81= Single submitter
- p.Lys259= Single submitter
- p.Phe29= Single submitter
- p.Pro58= Single submitter
- p.Ser228= Single submitter
- p.Ser230= Single submitter
- p.Ser232= Single submitter
- p.Ser234= Single submitter
- p.Thr55= Single submitter erythrokeratodermia variabilis et progressiva 1
- p.Thr85= Single submitter
- p.Tyr36= Single submitter
- p.Tyr65= Single submitter
Uncertain significance 156
- p.Ala114Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala194Asp Multiple submitters ⚠
- p.Ala196Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg104Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg180Ter Multiple submitters GJB3-related disorder
- p.Arg224Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg224Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg224Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 1A
- p.Arg22Cys Multiple submitters ⚠
- p.Arg22His Multiple submitters erythrokeratodermia variabilis et progressiva 1 ⚠
- p.Arg240Cys Multiple submitters ⚠
- p.Arg240His Multiple submitters Inborn genetic diseases ⚠
- p.Asn54Thr Multiple submitters Inborn genetic diseases ⚠
- p.Asn73Lys Multiple submitters ⚠
- p.Asp118Asn Multiple submitters ⚠
- p.Asp66Asn Multiple submitters ⚠
- p.Asp66Gly Multiple submitters Inborn genetic diseases ⚠
- p.Cys113Arg Multiple submitters Inborn genetic diseases
- p.Glu41Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu47Lys Multiple submitters ⚠
- p.Gly110Arg Multiple submitters ⚠
- p.Gly125Arg Multiple submitters Inborn genetic diseases ⚠
- p.His242Gln Multiple submitters Inborn genetic diseases ⚠
- p.His243Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Leu215Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys115fs Multiple submitters erythrokeratodermia variabilis
- p.Met191Lys Multiple submitters Inborn genetic diseases ⚠
- p.Pro159Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro169Leu Multiple submitters ⚠
- p.Ser88Ala Multiple submitters
- p.Thr130Ser Multiple submitters ⚠
- p.Thr18Ile Multiple submitters ⚠
- p.Trp44Arg Multiple submitters Inborn genetic diseases ⚠
- p.Trp44Ser Multiple submitters ⚠
- p.Val27Met Multiple submitters erythrokeratodermia variabilis et progressiva 1 ⚠
- p.Val35Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val37Leu Multiple submitters ⚠
- p.Val95Met Multiple submitters ⚠
- c.-150C>T Single submitter erythrokeratodermia variabilis et progressiva 1
- c.-159T>C Single submitter erythrokeratodermia variabilis et progressiva 1
- c.-177G>A Single submitter erythrokeratodermia variabilis et progressiva 1
- c.-231G>A Single submitter erythrokeratodermia variabilis et progressiva 1
- c.-285C>A Single submitter erythrokeratodermia variabilis et progressiva 1
- c.-293C>G Single submitter erythrokeratodermia variabilis et progressiva 1
- c.-307T>C Single submitter erythrokeratodermia variabilis et progressiva 1
- c.-383G>A Single submitter erythrokeratodermia variabilis et progressiva 1
- c.-398C>G Single submitter erythrokeratodermia variabilis et progressiva 1
- c.-399G>A Single submitter erythrokeratodermia variabilis et progressiva 1
- c.-477T>C Single submitter erythrokeratodermia variabilis et progressiva 1
- c.-480G>C Single submitter erythrokeratodermia variabilis et progressiva 1
- c.-70C>T Single submitter erythrokeratodermia variabilis et progressiva 1
- c.-93C>T Single submitter erythrokeratodermia variabilis et progressiva 1
- c.*172G>A Single submitter erythrokeratodermia variabilis et progressiva 1
- c.*191C>T Single submitter erythrokeratodermia variabilis et progressiva 1
- c.*306C>T Single submitter erythrokeratodermia variabilis et progressiva 1
- c.*370C>A Single submitter erythrokeratodermia variabilis et progressiva 1
- c.*429G>A Single submitter erythrokeratodermia variabilis et progressiva 1
- c.*481C>T Single submitter erythrokeratodermia variabilis et progressiva 1
- c.*541G>A Single submitter erythrokeratodermia variabilis et progressiva 1
- c.*670C>A Single submitter erythrokeratodermia variabilis et progressiva 1
- c.*80G>C Single submitter erythrokeratodermia variabilis et progressiva 1
- p.Ala114Asp Single submitter ⚠
- p.Ala165Asp Single submitter Inborn genetic diseases ⚠
- p.Ala168Asp Single submitter ⚠
- p.Ala194Val Single submitter
- p.Ala19Val Single submitter Inborn genetic diseases ⚠
- p.Ala233Thr Single submitter ⚠
- p.Ala264Thr Single submitter ⚠
- p.Ala264Val Single submitter Inborn genetic diseases ⚠
- p.Ala40Glu Single submitter ⚠
- p.Ala40Gly Single submitter erythrokeratodermia variabilis et progressiva 1 ⚠
- p.Ala78Asp Single submitter ⚠
- p.Arg101Gly Single submitter Inborn genetic diseases ⚠
- p.Arg101Trp Single submitter ⚠
- p.Arg103His Single submitter Inborn genetic diseases ⚠
- p.Arg104Trp Single submitter Inborn genetic diseases ⚠
- p.Arg160Leu Single submitter ⚠
- p.Arg160Pro Single submitter ⚠
- p.Arg216Ter Single submitter
- p.Arg22Leu Single submitter Inborn genetic diseases ⚠
- p.Arg32Gln Single submitter ⚠
- p.Arg75His Single submitter ⚠
- p.Arg98Cys Single submitter ⚠
- p.Arg98Ser Single submitter ⚠
- p.Asn166Ser Single submitter autosomal dominant nonsyndromic hearing loss 2B ⚠
- p.Asp252Gly Single submitter ⚠
- p.Asp52Glu Single submitter Inborn genetic diseases
- p.Cys164Tyr Single submitter erythrokeratodermia variabilis et progressiva 1 ⚠
- p.Cys204Tyr Single submitter ⚠
- p.Cys227Phe Single submitter Inborn genetic diseases ⚠
- p.Cys241Ser Single submitter
- p.Cys53fs Single submitter
- p.Cys86Ter Single submitter
- p.Gln107His Single submitter ⚠
- p.Gln112Arg Single submitter ⚠
- p.Gln261His Single submitter ⚠
- p.Gln261Ter Single submitter
- p.Gln80Arg Single submitter Inborn genetic diseases ⚠
- p.Glu99Lys Single submitter ⚠
- p.Gly225Arg Single submitter Inborn genetic diseases ⚠
- p.Gly59Ser Single submitter ⚠
- p.His124Arg Single submitter erythrokeratodermia variabilis et progressiva 1 ⚠
- p.His219Asn Single submitter Inborn genetic diseases ⚠
- p.His243del Single submitter
- p.Ile141Asn Single submitter ⚠
- p.Ile141Thr Single submitter Inborn genetic diseases ⚠
- p.Ile178Thr Single submitter ⚠
- p.Ile199Val Single submitter ⚠
- p.Ile270Asn Single submitter Inborn genetic diseases
- p.Ile82Phe Single submitter Inborn genetic diseases ⚠
- p.Leu116Arg Single submitter erythrokeratodermia variabilis et progressiva 1 ⚠
- p.Leu127fs Single submitter
- p.Leu161Val Single submitter ⚠
- p.Leu206Phe Single submitter ⚠
- p.Leu218fs Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Leu81Val Single submitter ⚠
- p.Lys115Thr Single submitter ⚠
- p.Lys184Arg Single submitter ⚠
- p.Lys259Arg Single submitter ⚠
- p.Lys56Gln Single submitter ⚠
- p.Met191Thr Single submitter ⚠
- p.Met1Val Single submitter
- p.Phe20Ile Single submitter Inborn genetic diseases ⚠
- p.Phe51Cys Single submitter Inborn genetic diseases ⚠
- p.Phe51Val Single submitter ⚠
- p.Phe83= Single submitter erythrokeratodermia variabilis et progressiva 1
- p.Phe83Leu Single submitter ⚠
- p.Pro159Thr Single submitter Inborn genetic diseases ⚠
- p.Pro181Arg Single submitter ⚠
- p.Pro181Thr Single submitter ⚠
- p.Pro223His Single submitter Inborn genetic diseases ⚠
- p.Pro265Ser Single submitter ⚠
- p.Pro265Thr Single submitter ⚠
- p.Pro58Thr Single submitter ⚠
- p.Ser17Phe Single submitter ⚠
- p.Ser17Tyr Single submitter erythrokeratodermia variabilis et progressiva 1 ⚠
- p.Ser228Asn Single submitter ⚠
- p.Ser230fs Single submitter autosomal dominant nonsyndromic hearing loss 2B
- p.Ser230Leu Single submitter ⚠
- p.Ser232Phe Single submitter ⚠
- p.Ter271Arg Single submitter
- p.Thr188Ile Single submitter Inborn genetic diseases ⚠
- p.Trp129Ter Single submitter
- p.Trp44fs Single submitter
- p.Trp44Leu Single submitter ⚠
- p.Trp44Ter Single submitter
- p.Tyr117Ter Single submitter erythrokeratodermia variabilis et progressiva 1
- p.Tyr147His Single submitter ⚠
- p.Tyr97Cys Single submitter Inborn genetic diseases ⚠
- p.Val162Gly Single submitter ⚠
- p.Val246Leu Single submitter ⚠
- p.Val28Leu Single submitter ⚠
- p.Val43Ala Single submitter ⚠
- p.His109Asn No assertion criteria ⚠
- p.Ile141del No assertion criteria hearing loss, autosomal recessive
- p.Ile141Val No assertion criteria hearing loss, autosomal recessive ⚠