TMPRSS3 — 639 ClinVar variants
All ClinVar germline TMPRSS3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 140 flagged for review →
45 Pathogenic · 24 Pathogenic/Likely pathogenic · 47 Likely pathogenic · 49 Conflicting · 43 Benign · 11 Benign/Likely benign · 259 Likely benign · 161 Uncertain significance
Full TMPRSS3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 140
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 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
TMPRSS3 p.Arg216His
Likely pathogenic
Multiple submitters
Rare genetic deafness
-
TMPRSS3 p.Thr248Met
Pathogenic/Likely pathogenic
Multiple submitters
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Val116Met
Pathogenic/Likely pathogenic
Multiple submitters
TMPRSS3-related disorder
-
TMPRSS3 p.Arg191Lys
Pathogenic
Single submitter
autosomal recessive nonsyndromic hearing loss 8
Predictors agree, ClinVar conflicts 22
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TMPRSS3 p.Ala138Thr
Conflicting
Single submitter
TMPRSS3-related disorder
- TMPRSS3 p.Ala386Val Conflicting Single submitter
-
TMPRSS3 p.Arg109Gln
Conflicting
Single submitter
TMPRSS3-related disorder
-
TMPRSS3 p.Arg166Leu
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Arg166Trp
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Arg435Cys
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Arg80His
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Asp348Asn
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Asp399Glu
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Glu445Lys
Conflicting
Single submitter
TMPRSS3-related disorder
-
TMPRSS3 p.His257Gln
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Met319Ile
Conflicting
Single submitter
Inborn genetic diseases
-
TMPRSS3 p.Met383Ile
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Met383Lys
Conflicting
Single submitter
TMPRSS3-related disorder
-
TMPRSS3 p.Pro430Ser
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Ser160Leu
Conflicting
Single submitter
Inborn genetic diseases
-
TMPRSS3 p.Ser96Leu
Conflicting
Single submitter
Inborn genetic diseases
- TMPRSS3 p.Trp343Leu Conflicting Single submitter
-
TMPRSS3 p.Tyr239His
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Val116Ala
Conflicting
Single submitter
Inborn genetic diseases
-
TMPRSS3 p.Val291Leu
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Val436Ile
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 8
Predictors lean, ClinVar uncertain 94
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TMPRSS3 p.Ala195Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMPRSS3 p.Ala255Val
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Ala352Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMPRSS3 p.Ala359Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TMPRSS3 p.Ala417Val Uncertain significance Multiple submitters
-
TMPRSS3 p.Arg106His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TMPRSS3 p.Arg16Gln Uncertain significance Multiple submitters
- TMPRSS3 p.Arg435Gly Uncertain significance Multiple submitters
- TMPRSS3 p.Asp100His Uncertain significance Multiple submitters
-
TMPRSS3 p.Asp103Asn
Uncertain significance
Multiple submitters
hearing loss disorder
-
TMPRSS3 p.Asp131Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMPRSS3 p.Asp132Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMPRSS3 p.Cys396Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TMPRSS3 p.Gly244Val Uncertain significance Multiple submitters
-
TMPRSS3 p.Gly376Ser
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Ile54Thr
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Leu286Met
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Met128Thr
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Pro6Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TMPRSS3 p.Ser124Leu Uncertain significance Multiple submitters
- TMPRSS3 p.Ser226Leu Uncertain significance Multiple submitters
-
TMPRSS3 p.Thr390Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMPRSS3 p.Tyr189Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMPRSS3 p.Tyr213Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMPRSS3 p.Val181Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMPRSS3 p.Val393Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TMPRSS3 p.Ala115Thr Uncertain significance Single submitter
- TMPRSS3 p.Ala11Asp Uncertain significance Single submitter
- TMPRSS3 p.Ala123Ser Uncertain significance Single submitter
- TMPRSS3 p.Ala123Val Uncertain significance Single submitter
-
TMPRSS3 p.Ala206Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TMPRSS3 p.Ala255Ser Uncertain significance Single submitter
-
TMPRSS3 p.Ala306Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TMPRSS3 p.Ala38Val Uncertain significance Single submitter
-
TMPRSS3 p.Ala64Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TMPRSS3 p.Arg16Leu Uncertain significance Single submitter
- TMPRSS3 p.Arg91Gln Uncertain significance Single submitter
- TMPRSS3 p.Asn114Ser Uncertain significance Single submitter
-
TMPRSS3 p.Asn327Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TMPRSS3 p.Asp23Asn Uncertain significance Single submitter
-
TMPRSS3 p.Asp304Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- TMPRSS3 p.Asp334Asn Uncertain significance Single submitter
- TMPRSS3 p.Asp334His Uncertain significance Single submitter
- TMPRSS3 p.Asp373Glu Uncertain significance Single submitter
-
TMPRSS3 p.Cys107Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- TMPRSS3 p.Cys194Tyr Uncertain significance Single submitter
-
TMPRSS3 p.Cys207Tyr
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Gln446Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMPRSS3 p.Glu408Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMPRSS3 p.Glu448Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMPRSS3 p.Gly163Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TMPRSS3 p.Gly312Arg Uncertain significance Single submitter
-
TMPRSS3 p.Gly342Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMPRSS3 p.Gly398Arg
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Gly398Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMPRSS3 p.Gly421Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMPRSS3 p.His174Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMPRSS3 p.His185Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- TMPRSS3 p.His257Leu Uncertain significance Single submitter
-
TMPRSS3 p.Ile217Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- TMPRSS3 p.Ile253Thr Uncertain significance Single submitter
-
TMPRSS3 p.Ile378Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TMPRSS3 p.Ile51Val Uncertain significance Single submitter
-
TMPRSS3 p.Ile65Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TMPRSS3 p.Ile86Asn Uncertain significance Single submitter
- TMPRSS3 p.Leu175His Uncertain significance Single submitter
- TMPRSS3 p.Leu184Val Uncertain significance Single submitter
- TMPRSS3 p.Leu286Trp Uncertain significance Single submitter
- TMPRSS3 p.Leu310Pro Uncertain significance Single submitter
- TMPRSS3 p.Leu363Val Uncertain significance Single submitter
-
TMPRSS3 p.Leu88Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- TMPRSS3 p.Lys47Arg Uncertain significance Single submitter
-
TMPRSS3 p.Lys47Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- TMPRSS3 p.Lys99Arg Uncertain significance Single submitter
-
TMPRSS3 p.Phe13Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMPRSS3 p.Pro12Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMPRSS3 p.Pro229Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMPRSS3 p.Pro265His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMPRSS3 p.Pro333Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMPRSS3 p.Pro45Thr
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Ser214Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TMPRSS3 p.Ser82Ala Uncertain significance Single submitter
- TMPRSS3 p.Thr205Pro Uncertain significance Single submitter
-
TMPRSS3 p.Thr315Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMPRSS3 p.Thr340Met
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Thr390Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMPRSS3 p.Thr390Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMPRSS3 p.Trp125Arg
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 8
- TMPRSS3 p.Tyr137His Uncertain significance Single submitter
-
TMPRSS3 p.Tyr189His
Uncertain significance
Single submitter
Inborn genetic diseases
- TMPRSS3 p.Tyr239Cys Uncertain significance Single submitter
-
TMPRSS3 p.Tyr263Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- TMPRSS3 p.Val181Leu Uncertain significance Single submitter
-
TMPRSS3 p.Val218Met
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 20
The independent predictors disagree with each other — read with care.
-
TMPRSS3 p.Arg106Cys
Pathogenic/Likely pathogenic
Multiple submitters
autosomal recessive nonsyndromic hearing loss 8
- TMPRSS3 p.Asn428Ser Uncertain significance Multiple submitters
-
TMPRSS3 p.Gly112Val
Uncertain significance
Multiple submitters
hearing loss disorder
-
TMPRSS3 p.Gly335Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMPRSS3 p.Gly94Arg
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Phe13Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TMPRSS3 p.Arg78Ser Uncertain significance Single submitter
- TMPRSS3 p.Arg80Cys Conflicting Single submitter
- TMPRSS3 p.Asp394Asn Likely pathogenic Single submitter
-
TMPRSS3 p.Asp394His
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 8
-
TMPRSS3 p.Gly101Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMPRSS3 p.Gly238Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- TMPRSS3 p.Gly350Ser Uncertain significance Single submitter
- TMPRSS3 p.Gly423Ser Uncertain significance Single submitter
- TMPRSS3 p.Ile172Thr Uncertain significance Single submitter
- TMPRSS3 p.Ile252Met Uncertain significance Single submitter
-
TMPRSS3 p.Ile443Thr
Likely pathogenic
Single submitter
autosomal recessive nonsyndromic hearing loss 8
- TMPRSS3 p.Phe316Leu Uncertain significance Single submitter
-
TMPRSS3 p.Ser438Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMPRSS3 p.Val199Met
Conflicting
Single submitter
TMPRSS3-related disorder
All TMPRSS3 variants
Pathogenic 45
- p.Ala386Thr Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Arg216Cys Multiple submitters hearing loss, autosomal recessive
- p.Arg91Ter Multiple submitters TMPRSS3-related disorder
- p.Gln144fs Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Gln397Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Leu184Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Trp251Cys Multiple submitters hearing loss disorder
- p.Tyr239Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- c.1345-2A>G Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.572+2T>C Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.783-1G>A Single submitter
- c.953-5A>G Single submitter
- p.Ala33fs Single submitter
- p.Ala345fs Single submitter
- p.Arg191Lys Single submitter autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Arg435Pro Single submitter
- p.Asp23_Leu24insTer Single submitter
- p.Asp399Asn Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Gln235Ter Single submitter
- p.Gln39Ter Single submitter
- p.Gly244Asp Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Leu250fs Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Leu404fs Single submitter
- p.Lys266Ter Single submitter
- p.Lys336fs Single submitter
- p.Met1Ile Single submitter
- p.Met1Val Single submitter
- p.Met447fs Single submitter
- p.Pro50fs Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Ser14fs Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Ser81Ter Single submitter nonsyndromic genetic hearing loss
- p.Trp133Ter Single submitter
- p.Trp230Ter Single submitter
- p.Trp339Ter Single submitter
- p.Trp442Ter Single submitter
- p.Tyr189Ter Single submitter
- p.Tyr292Ter Single submitter
- p.Val119fs Single submitter
- p.Val259fs Single submitter
- c.1048+1G>A No assertion criteria autosomal recessive nonsyndromic hearing loss 8
- c.1180_1187delinsN1234 No assertion criteria autosomal recessive nonsyndromic hearing loss 8
- c.1192-1G>C No assertion criteria autosomal recessive nonsyndromic hearing loss 8
- p.Arg216Leu No assertion criteria autosomal recessive nonsyndromic hearing loss 8
- p.Asp103Gly No assertion criteria autosomal recessive nonsyndromic hearing loss 8
- p.Cys194Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 8
Pathogenic/Likely pathogenic 24
- c.323-6G>A Multiple submitters TMPRSS3-related disorder
- p.Ala138Glu Multiple submitters TMPRSS3-related disorder
- p.Ala306Thr Multiple submitters TMPRSS3-related disorder
- p.Ala425Thr Multiple submitters TMPRSS3-related disorder
- p.Arg106Cys Multiple submitters autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Arg109Trp Multiple submitters TMPRSS3-related disorder
- p.Arg16Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Asp334fs Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Cys194fs Multiple submitters Rare genetic deafness
- p.Cys406Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Glu104Lys Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Gly243Arg Multiple submitters Rare genetic deafness
- p.Gly401Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.His70fs Multiple submitters TMPRSS3-related disorder
- p.Lys134Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Met447Thr Multiple submitters Rare genetic deafness
- p.Pro403Leu Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Ser153Ter Multiple submitters TMPRSS3-related disorder
- p.Ser215fs Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Thr248Met Multiple submitters autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Trp343Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Val116Met Multiple submitters TMPRSS3-related disorder ⚠
- p.Val337fs Multiple submitters TMPRSS3-related disorder
- c.783-1G>T No assertion criteria autosomal recessive nonsyndromic hearing loss 8
Likely pathogenic 47
- c.1049-4G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- c.206-2A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- c.446+1G>T Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- c.573-1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Ala306Val Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Arg216His Multiple submitters Rare genetic deafness ⚠
- p.Cys92Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Trp343Cys Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- c.1191+1G>A Single submitter
- c.205+5G>C Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.447-1G>A Single submitter
- c.447-1G>C Single submitter
- c.616+1G>T Single submitter
- c.616+2T>C Single submitter TMPRSS3-related disorder
- c.95-2A>C Single submitter
- c.952+1G>T Single submitter
- c.953-1G>A Single submitter
- c.953-2A>G Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Ala306Asp Single submitter
- p.Ala386Pro Single submitter
- p.Arg435Leu Single submitter
- p.Asp394Asn Single submitter ⚠
- p.Asp399Val Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Cys142Ser Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Cys142Tyr Single submitter
- p.Cys194Phe Single submitter Monogenic hearing loss
- p.Cys385Arg Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Cys424Ter Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Glu104Gly Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Gly146Ser Single submitter
- p.Gly273Val Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Gly342Glu Single submitter Rare genetic deafness
- p.Gly401Trp Single submitter
- p.Ile443Thr Single submitter autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Leu63Arg Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Pro322His Single submitter hearing loss disorder
- p.Pro403Ala Single submitter
- p.Pro403fs Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Pro430Thr Single submitter
- p.Ser14Ter Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Ser341Ter Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Thr340Arg Single submitter
- p.Trp251Ter Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Trp343Ser Single submitter
- c.572+2T>G No assertion criteria autosomal recessive nonsyndromic hearing loss 8
- p.Ala256Val No assertion criteria hearing loss, autosomal recessive
- p.Asp100fs No assertion criteria autosomal recessive nonsyndromic hearing loss 8
Conflicting classifications of pathogenicity 49
- c.1191+10C>T Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.1344+8C>T Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.1344+9G>A Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.573-8C>T Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.783-13C>A Single submitter
- c.-131G>C Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.-36G>C Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*53G>A Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*815A>G Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Ala138Thr Single submitter TMPRSS3-related disorder ⚠
- p.Ala359= Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Ala386Val Single submitter ⚠
- p.Arg109Gln Single submitter TMPRSS3-related disorder ⚠
- p.Arg166Leu Single submitter autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Arg166Trp Single submitter autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Arg435Cys Single submitter autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Arg435His Single submitter Inborn genetic diseases
- p.Arg80Cys Single submitter ⚠
- p.Arg80His Single submitter autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Asp348Asn Single submitter autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Asp373= Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Asp394His Single submitter autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Asp399Glu Single submitter autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Cys424= Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Gln227= Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Glu408fs Single submitter hearing loss disorder
- p.Glu445Lys Single submitter TMPRSS3-related disorder ⚠
- p.His257Gln Single submitter autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.His444= Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Ile422= Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Met319Ile Single submitter Inborn genetic diseases ⚠
- p.Met383Ile Single submitter autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Met383Lys Single submitter TMPRSS3-related disorder ⚠
- p.Phe71= Single submitter Inborn genetic diseases
- p.Phe71Ser Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Pro333= Single submitter
- p.Pro430Ser Single submitter autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Ser160Leu Single submitter Inborn genetic diseases ⚠
- p.Ser96Leu Single submitter Inborn genetic diseases ⚠
- p.Ter454Arg Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Trp343Leu Single submitter ⚠
- p.Tyr137= Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Tyr239His Single submitter autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Tyr263= Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Tyr375= Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Val116Ala Single submitter Inborn genetic diseases ⚠
- p.Val199Met Single submitter TMPRSS3-related disorder ⚠
- p.Val291Leu Single submitter autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Val436Ile Single submitter autosomal recessive nonsyndromic hearing loss 8 ⚠
Benign 43
- c.1049-121A>T Multiple submitters
- c.1049-62G>A Multiple submitters
- c.1191+156C>G Multiple submitters
- c.1344+116C>T Multiple submitters
- c.1344+128C>T Multiple submitters
- c.1344+37G>C Multiple submitters
- c.205+210A>G Multiple submitters
- c.322+74A>T Multiple submitters
- c.572+136T>C Multiple submitters
- c.617-105A>G Multiple submitters
- c.617-18C>T Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- c.617-217C>T Multiple submitters
- c.617-3_617-2dup Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- c.783-290A>G Multiple submitters
- c.952+17A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- c.952+216A>T Multiple submitters
- c.-51-196T>C Multiple submitters
- c.-51-7G>C Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- c.-51-84A>G Multiple submitters
- c.-52+175C>T Multiple submitters
- c.-52+222G>A Multiple submitters
- c.*206A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- c.1049-131del Single submitter
- c.1049-19del Single submitter
- c.1049-20C>G Single submitter
- c.1049-230T>C Single submitter
- c.1049-231C>G Single submitter
- c.1345-204C>G Single submitter
- c.1345-244C>T Single submitter
- c.206-264G>C Single submitter
- c.206-340C>G Single submitter
- c.322+111T>C Single submitter
- c.322+161del Single submitter
- c.322+171G>A Single submitter
- c.323-174G>C Single submitter
- c.446+297A>C Single submitter
- c.447-322C>T Single submitter
- c.573-144del Single submitter
- c.573-157_573-156dup Single submitter
- c.573-157dup Single submitter
- c.573-291T>C Single submitter
- c.952+371A>G Single submitter
- c.953-217G>C Single submitter
Benign/Likely benign 11
- c.323-8T>C Multiple submitters
- c.447-13A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- c.-34G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- c.*246G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- c.*2G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Ala90Thr Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Gln144= Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Gly111Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Tyr77= Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Val151= Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Val53Ile Multiple submitters autosomal recessive nonsyndromic hearing loss 8
Likely benign 259
- c.1049-16A>G Multiple submitters
- c.1191+11G>A Multiple submitters
- c.1192-12C>T Multiple submitters
- c.1192-218G>C Multiple submitters
- c.205+66G>A Multiple submitters
- c.206-124C>T Multiple submitters
- c.206-142A>G Multiple submitters
- c.206-22C>T Multiple submitters
- c.572+98A>C Multiple submitters
- c.783-13C>T Multiple submitters
- c.783-19C>T Multiple submitters
- c.952+198T>C Multiple submitters
- c.*189T>C Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- c.*191T>C Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- c.*409C>T Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Arg166Gln Multiple submitters Inborn genetic diseases
- p.Asn331= Multiple submitters
- p.Asp100= Multiple submitters
- p.Asp103= Multiple submitters
- p.Asp261= Multiple submitters
- p.Asp351= Multiple submitters
- p.Asp93= Multiple submitters
- p.Cys385= Multiple submitters
- p.Glu347= Multiple submitters
- p.Gly111= Multiple submitters
- p.Gly342= Multiple submitters
- p.Gly431= Multiple submitters
- p.Gly94= Multiple submitters
- p.Ile172= Multiple submitters
- p.Ile86= Multiple submitters
- p.Leu277= Multiple submitters
- p.Leu325= Multiple submitters
- p.Ser130= Multiple submitters
- p.Ser226= Multiple submitters
- p.Ser267= Multiple submitters
- p.Ser96= Multiple submitters
- p.Thr390= Multiple submitters
- c.1048+15G>A Single submitter
- c.1048+20G>A Single submitter
- c.1048+8G>C Single submitter
- c.1048+9del Single submitter
- c.1049-12A>T Single submitter
- c.1049-19C>G Single submitter
- c.1049-20C>T Single submitter
- c.1049-44C>T Single submitter
- c.1049-8T>G Single submitter
- c.1049-9T>C Single submitter
- c.1191+12C>T Single submitter
- c.1191+14G>A Single submitter
- c.1191+14G>T Single submitter
- c.1191+15C>A Single submitter
- c.1191+15C>T Single submitter
- c.1191+16G>A Single submitter
- c.1191+16G>C Single submitter
- c.1191+293G>A Single submitter
- c.1191+8G>T Single submitter
- c.1192-11C>T Single submitter
- c.1192-16C>G Single submitter
- c.1192-16C>T Single submitter
- c.1192-4C>A Single submitter
- c.1192-4C>G Single submitter
- c.1192-8T>C Single submitter
- c.1344+11C>T Single submitter
- c.1344+12G>A Single submitter
- c.1344+17C>T Single submitter
- c.1345-19C>G Single submitter
- c.1345-19C>T Single submitter
- c.1345-20G>A Single submitter
- c.1345-8A>C Single submitter
- c.1345-8A>G Single submitter
- c.205+10A>C Single submitter
- c.205+10A>G Single submitter
- c.205+11T>G Single submitter
- c.205+14A>C Single submitter
- c.205+14A>G Single submitter
- c.205+14A>T Single submitter
- c.205+20T>C Single submitter
- c.205+303G>A Single submitter
- c.205+8C>A Single submitter
- c.205+8C>T Single submitter
- c.206-14C>T Single submitter
- c.206-17T>C Single submitter
- c.206-18C>T Single submitter
- c.206-19C>T Single submitter
- c.206-20G>A Single submitter
- c.206-5C>G Single submitter
- c.206-7T>C Single submitter
- c.322+10T>C Single submitter
- c.322+12G>A Single submitter
- c.322+13C>A Single submitter
- c.322+13C>T Single submitter
- c.322+18C>A Single submitter
- c.322+9A>G Single submitter
- c.323-11A>G Single submitter
- c.323-19C>G Single submitter
- c.323-20T>C Single submitter
- c.323-7C>T Single submitter
- c.323-9A>G Single submitter
- c.446+11G>A Single submitter
- c.446+13G>A Single submitter
- c.446+287G>T Single submitter
- c.446+9A>G Single submitter
- c.447-10G>A Single submitter
- c.447-16T>C Single submitter
- c.447-19C>G Single submitter
- c.447-339C>A Single submitter
- c.447-7C>T Single submitter
- c.572+11A>G Single submitter
- c.572+14C>T Single submitter
- c.572+15G>A Single submitter
- c.572+8G>A Single submitter
- c.573-11C>T Single submitter
- c.573-17C>A Single submitter
- c.573-184A>G Single submitter
- c.573-7G>A Single submitter
- c.616+12A>T Single submitter
- c.616+17G>C Single submitter
- c.616+18G>A Single submitter
- c.616+19C>T Single submitter
- c.617-10C>G Single submitter
- c.617-10C>T Single submitter
- c.617-16T>G Single submitter
- c.617-19C>G Single submitter
- c.617-19C>T Single submitter
- c.617-4A>T Single submitter
- c.617-5C>T Single submitter
- c.617-6C>T Single submitter
- c.782+15C>T Single submitter
- c.782+16C>T Single submitter
- c.782+17A>G Single submitter
- c.782+18T>A Single submitter
- c.783-16G>A Single submitter
- c.783-17T>C Single submitter
- c.783-68T>C Single submitter
- c.783-8C>T Single submitter
- c.95-18C>T Single submitter
- c.95-288G>A Single submitter
- c.952+11G>T Single submitter
- c.952+18T>C Single submitter
- c.952+19G>A Single submitter
- c.952+388C>T Single submitter
- c.953-11C>T Single submitter
- c.953-16G>A Single submitter
- c.953-16G>T Single submitter
- c.953-19A>G Single submitter
- c.953-4G>A Single submitter
- c.953-6A>G Single submitter
- c.953-9T>C Single submitter
- p.Ala11= Single submitter
- p.Ala115= Single submitter
- p.Ala143= Single submitter
- p.Ala195= Single submitter
- p.Ala306= Single submitter
- p.Ala311= Single submitter
- p.Ala360= Single submitter
- p.Ala386= Single submitter
- p.Ala417= Single submitter
- p.Arg106= Single submitter
- p.Arg109= Single submitter
- p.Arg16= Single submitter
- p.Arg216= Single submitter
- p.Arg300= Single submitter
- p.Arg372= Single submitter
- p.Asn155= Single submitter
- p.Asn370= Single submitter
- p.Asp154= Single submitter
- p.Asp178= Single submitter
- p.Asp22= Single submitter
- p.Asp334= Single submitter
- p.Asp450= Single submitter
- p.Cys204= Single submitter
- p.Cys242= Single submitter
- p.Cys258= Single submitter
- p.Cys369= Single submitter
- p.Cys79= Single submitter
- p.Cys92= Single submitter
- p.Gln113Arg Single submitter Inborn genetic diseases
- p.Gln118= Single submitter
- p.Gln203Lys Single submitter Inborn genetic diseases
- p.Glu104= Single submitter
- p.Glu162= Single submitter
- p.Glu426= Single submitter
- p.Glu426Asp Single submitter Inborn genetic diseases
- p.Gly101= Single submitter
- p.Gly197= Single submitter
- p.Gly392= Single submitter
- p.Gly398= Single submitter
- p.Gly401= Single submitter
- p.Gly402= Single submitter
- p.Gly421= Single submitter
- p.His185= Single submitter
- p.His198= Single submitter
- p.His209= Single submitter
- p.His240= Single submitter
- p.His358= Single submitter
- p.His371= Single submitter
- p.Ile217= Single submitter
- p.Ile253= Single submitter
- p.Ile253Val Single submitter
- p.Ile270= Single submitter
- p.Ile305= Single submitter
- p.Ile320= Single submitter
- p.Ile40= Single submitter
- p.Ile52= Single submitter
- p.Leu145= Single submitter
- p.Leu161= Single submitter
- p.Leu21= Single submitter
- p.Leu250= Single submitter
- p.Leu274= Single submitter
- p.Leu286= Single submitter
- p.Leu356= Single submitter
- p.Leu384= Single submitter
- p.Leu389= Single submitter
- p.Leu411= Single submitter
- p.Leu414= Single submitter
- p.Leu46= Single submitter
- p.Leu59= Single submitter
- p.Leu61= Single submitter
- p.Leu88= Single submitter
- p.Lys413= Single submitter
- p.Phe236= Single submitter
- p.Pro12= Single submitter
- p.Pro229= Single submitter
- p.Pro298= Single submitter
- p.Pro326= Single submitter
- p.Pro354= Single submitter
- p.Pro381= Single submitter
- p.Pro430= Single submitter
- p.Pro45= Single submitter
- p.Pro6= Single submitter
- p.Pro7= Single submitter
- p.Ser124= Single submitter
- p.Ser14= Single submitter
- p.Ser160= Single submitter
- p.Ser17= Single submitter
- p.Ser187= Single submitter
- p.Ser214= Single submitter
- p.Ser215= Single submitter
- p.Ser353= Single submitter
- p.Ser380= Single submitter
- p.Ser382= Single submitter
- p.Ser400= Single submitter
- p.Thr182= Single submitter
- p.Thr248= Single submitter
- p.Thr315= Single submitter
- p.Thr340= Single submitter
- p.Thr346= Single submitter
- p.Thr418= Single submitter
- p.Thr434= Single submitter
- p.Tyr296= Single submitter
- p.Tyr388= Single submitter
- p.Val119= Single submitter
- p.Val170= Single submitter
- p.Val190= Single submitter
- p.Val323= Single submitter
- p.Val393= Single submitter
- p.Val415= Single submitter
- p.Val436= Single submitter
- p.Ser14Leu No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 161
- c.446+4A>T Multiple submitters
- c.616+5G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- c.-182G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- c.-198G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- c.*287C>T Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- c.*492C>T Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- c.*755G>T Multiple submitters autosomal recessive nonsyndromic hearing loss 8
- p.Ala195Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala255Val Multiple submitters autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Ala352Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala359Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala417Val Multiple submitters ⚠
- p.Arg106His Multiple submitters Inborn genetic diseases ⚠
- p.Arg16Gln Multiple submitters ⚠
- p.Arg435Gly Multiple submitters ⚠
- p.Asn428Ser Multiple submitters ⚠
- p.Asp100His Multiple submitters ⚠
- p.Asp103Asn Multiple submitters hearing loss disorder ⚠
- p.Asp131Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp132Gly Multiple submitters Inborn genetic diseases ⚠
- p.Cys396Phe Multiple submitters Inborn genetic diseases ⚠
- p.Gly112Val Multiple submitters hearing loss disorder ⚠
- p.Gly244Val Multiple submitters ⚠
- p.Gly335Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly376Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Gly94Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Ile54Thr Multiple submitters autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Leu286Met Multiple submitters autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Leu301Val Multiple submitters Inborn genetic diseases
- p.Met128Thr Multiple submitters autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Phe13Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro6Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser124Leu Multiple submitters ⚠
- p.Ser226Leu Multiple submitters ⚠
- p.Thr390Met Multiple submitters Inborn genetic diseases ⚠
- p.Tyr189Phe Multiple submitters Inborn genetic diseases ⚠
- p.Tyr213Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val181Met Multiple submitters Inborn genetic diseases ⚠
- p.Val374Met Multiple submitters Inborn genetic diseases
- p.Val393Met Multiple submitters Inborn genetic diseases ⚠
- c.1048+5G>A Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.1344+3G>A Single submitter
- c.1345-6T>G Single submitter
- c.205+5G>A Single submitter
- c.205+6T>A Single submitter hearing loss, autosomal recessive
- c.446+41_446+44del Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.782+5G>A Single submitter
- c.782+5G>C Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.783-6T>C Single submitter
- c.952+42T>C Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.-178A>C Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.-51-12T>C Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.-51-7G>A Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.-78T>A Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.-79A>G Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*177A>C Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*245C>T Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*334G>A Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*397C>A Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*402C>T Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*407A>T Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*411C>A Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*429C>A Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*476C>T Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*477G>A Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*493C>T Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*539C>T Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*540G>A Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*573C>T Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*576G>A Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*664C>T Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*692G>A Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*750C>A Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*777G>T Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*782G>A Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*805T>C Single submitter autosomal recessive nonsyndromic hearing loss 8
- c.*81C>T Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Ala115Thr Single submitter ⚠
- p.Ala11Asp Single submitter ⚠
- p.Ala123Ser Single submitter ⚠
- p.Ala123Val Single submitter ⚠
- p.Ala206Val Single submitter Inborn genetic diseases ⚠
- p.Ala255Ser Single submitter ⚠
- p.Ala306Gly Single submitter Inborn genetic diseases ⚠
- p.Ala38Val Single submitter ⚠
- p.Ala64Val Single submitter Inborn genetic diseases ⚠
- p.Arg16Leu Single submitter ⚠
- p.Arg78Ser Single submitter ⚠
- p.Arg91Gln Single submitter ⚠
- p.Asn114Ser Single submitter ⚠
- p.Asn327Ser Single submitter Inborn genetic diseases ⚠
- p.Asp23Asn Single submitter ⚠
- p.Asp304Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp334Asn Single submitter ⚠
- p.Asp334His Single submitter ⚠
- p.Asp373Glu Single submitter ⚠
- p.Cys107Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys194Tyr Single submitter ⚠
- p.Cys207Tyr Single submitter autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Gln446Lys Single submitter Inborn genetic diseases ⚠
- p.Glu408Asp Single submitter Inborn genetic diseases ⚠
- p.Glu448Gln Single submitter Inborn genetic diseases ⚠
- p.Gly101Arg Single submitter Inborn genetic diseases ⚠
- p.Gly112Arg Single submitter Inborn genetic diseases
- p.Gly163Arg Single submitter Inborn genetic diseases ⚠
- p.Gly238Cys Single submitter Inborn genetic diseases ⚠
- p.Gly312Arg Single submitter ⚠
- p.Gly342Arg Single submitter Inborn genetic diseases ⚠
- p.Gly350Ser Single submitter ⚠
- p.Gly398Arg Single submitter autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Gly398Glu Single submitter Inborn genetic diseases ⚠
- p.Gly421Asp Single submitter Inborn genetic diseases ⚠
- p.Gly423Ser Single submitter ⚠
- p.Gly68= Single submitter
- p.His174Pro Single submitter Inborn genetic diseases ⚠
- p.His185Tyr Single submitter Inborn genetic diseases ⚠
- p.His257= Single submitter
- p.His257Leu Single submitter ⚠
- p.Ile172Thr Single submitter ⚠
- p.Ile217Asn Single submitter Inborn genetic diseases ⚠
- p.Ile252Met Single submitter ⚠
- p.Ile253Thr Single submitter ⚠
- p.Ile378Val Single submitter Inborn genetic diseases ⚠
- p.Ile51Val Single submitter ⚠
- p.Ile65Val Single submitter Inborn genetic diseases ⚠
- p.Ile86Asn Single submitter ⚠
- p.Leu175His Single submitter ⚠
- p.Leu184Val Single submitter ⚠
- p.Leu286Trp Single submitter ⚠
- p.Leu310Pro Single submitter ⚠
- p.Leu363Val Single submitter ⚠
- p.Leu88Pro Single submitter Inborn genetic diseases ⚠
- p.Lys47Arg Single submitter ⚠
- p.Lys47Glu Single submitter Inborn genetic diseases ⚠
- p.Lys99Arg Single submitter ⚠
- p.Met1Thr Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Phe13Val Single submitter Inborn genetic diseases ⚠
- p.Phe316Leu Single submitter ⚠
- p.Pro12Leu Single submitter Inborn genetic diseases ⚠
- p.Pro229Ser Single submitter Inborn genetic diseases ⚠
- p.Pro265His Single submitter Inborn genetic diseases ⚠
- p.Pro333Leu Single submitter Inborn genetic diseases ⚠
- p.Pro45Thr Single submitter autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Ser214Gly Single submitter Inborn genetic diseases ⚠
- p.Ser223= Single submitter
- p.Ser438Pro Single submitter Inborn genetic diseases ⚠
- p.Ser82Ala Single submitter ⚠
- p.Thr205Pro Single submitter ⚠
- p.Thr315Met Single submitter Inborn genetic diseases ⚠
- p.Thr340Met Single submitter autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Thr390Ala Single submitter Inborn genetic diseases ⚠
- p.Thr390Arg Single submitter Inborn genetic diseases ⚠
- p.Trp125Arg Single submitter autosomal recessive nonsyndromic hearing loss 8 ⚠
- p.Tyr137His Single submitter ⚠
- p.Tyr150= Single submitter autosomal recessive nonsyndromic hearing loss 8
- p.Tyr189His Single submitter Inborn genetic diseases ⚠
- p.Tyr239Cys Single submitter ⚠
- p.Tyr263Phe Single submitter Inborn genetic diseases ⚠
- p.Val181Leu Single submitter ⚠
- p.Val218Met Single submitter Inborn genetic diseases ⚠
- p.Val323Met Single submitter Inborn genetic diseases