FOXI1 — 229 ClinVar variants
All ClinVar germline FOXI1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 135 flagged for review →
1 Pathogenic · 4 Likely pathogenic · 18 Conflicting · 8 Benign · 3 Benign/Likely benign · 47 Likely benign · 148 Uncertain significance
Full FOXI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 135
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
FOXI1 p.Ser293Arg
Likely pathogenic
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Tyr31Cys
Likely pathogenic
Single submitter
hearing loss disorder
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
FOXI1 p.Asp106Glu
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Gly103Ala
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Pro239Leu
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Pro243Thr
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Pro340Ala
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Thr226Ile
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Val364Ile
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
Predictors lean, ClinVar uncertain 96
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
FOXI1 p.Ala255Thr
Uncertain significance
Multiple submitters
Pendred syndrome
-
FOXI1 p.Ala338Val
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Arg213Cys
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Arg213His Uncertain significance Multiple submitters
-
FOXI1 p.Arg267Gln
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Arg267Trp Uncertain significance Multiple submitters
-
FOXI1 p.Asn344Asp
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Gly258Glu
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Gly259Asp
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Gly303Glu Uncertain significance Multiple submitters
-
FOXI1 p.Gly313Arg
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Gly333Ser
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Gly78Ser Uncertain significance Multiple submitters
- FOXI1 p.Lys142Arg Uncertain significance Multiple submitters
- FOXI1 p.Pro26His Uncertain significance Multiple submitters
-
FOXI1 p.Pro358Ser
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Ser224Phe
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Ser296Ile Uncertain significance Multiple submitters
-
FOXI1 p.Ser309Asn
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Ser363Ile
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Ser3Phe
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Ser82Asn
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Thr295Met
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Ala165Thr
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Ala227Pro Uncertain significance Single submitter
-
FOXI1 p.Ala287Thr
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Arg123Gln Uncertain significance Single submitter
- FOXI1 p.Arg143Gly Uncertain significance Single submitter
- FOXI1 p.Arg186His Uncertain significance Single submitter
- FOXI1 p.Arg216Gly Uncertain significance Single submitter
-
FOXI1 p.Asn169Asp
Uncertain significance
Single submitter
sensorineural hearing loss disorder
-
FOXI1 p.Asn195Lys
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Asn29Lys Uncertain significance Single submitter
- FOXI1 p.Asn339Lys Uncertain significance Single submitter
- FOXI1 p.Asn66Ser Uncertain significance Single submitter
- FOXI1 p.Asn80Ser Uncertain significance Single submitter
- FOXI1 p.Asp106Asn Uncertain significance Single submitter
- FOXI1 p.Asp179Val Uncertain significance Single submitter
- FOXI1 p.Asp189Asn Uncertain significance Single submitter
- FOXI1 p.Asp241Val Uncertain significance Single submitter
- FOXI1 p.Asp253Gly Uncertain significance Single submitter
- FOXI1 p.Asp5Tyr Uncertain significance Single submitter
- FOXI1 p.Glu24Asp Uncertain significance Single submitter
-
FOXI1 p.Glu50Asp
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Glu54Gly
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Gly254Arg
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Gly258Ala
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Gly258Trp
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Gly291Arg Uncertain significance Single submitter
-
FOXI1 p.Gly313Glu
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Gly335Asp
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Gly335Cys
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Gly51Arg Uncertain significance Single submitter
- FOXI1 p.Gly90Val Uncertain significance Single submitter
- FOXI1 p.His173Gln Uncertain significance Single submitter
- FOXI1 p.Leu238Phe Uncertain significance Single submitter
- FOXI1 p.Leu282Ile Uncertain significance Single submitter
-
FOXI1 p.Leu282Phe
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Leu282Pro Uncertain significance Single submitter
- FOXI1 p.Leu346Ile Uncertain significance Single submitter
- FOXI1 p.Leu6Val Uncertain significance Single submitter
-
FOXI1 p.Met341Thr
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Met345Val Uncertain significance Single submitter
- FOXI1 p.Phe4Tyr Uncertain significance Single submitter
- FOXI1 p.Pro111Ser Uncertain significance Single submitter
- FOXI1 p.Pro158Thr Uncertain significance Single submitter
- FOXI1 p.Pro16Ser Uncertain significance Single submitter
- FOXI1 p.Pro268Ser Uncertain significance Single submitter
-
FOXI1 p.Pro268Thr
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Pro26Arg Uncertain significance Single submitter
-
FOXI1 p.Pro270Leu
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Pro298Leu Uncertain significance Single submitter
- FOXI1 p.Pro306Arg Uncertain significance Single submitter
- FOXI1 p.Pro324Leu Uncertain significance Single submitter
- FOXI1 p.Pro68Ser Uncertain significance Single submitter
-
FOXI1 p.Pro79Ala
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Pro79Arg Uncertain significance Single submitter
-
FOXI1 p.Pro79Ser
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Pro83Leu Uncertain significance Single submitter
- FOXI1 p.Ser129Leu Uncertain significance Single submitter
- FOXI1 p.Ser176Leu Uncertain significance Single submitter
-
FOXI1 p.Ser224Pro
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Ser228Phe Uncertain significance Single submitter
- FOXI1 p.Ser262Gly Uncertain significance Single submitter
-
FOXI1 p.Ser290Asn
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Ser316Pro Uncertain significance Single submitter
- FOXI1 p.Ser323Tyr Uncertain significance Single submitter
- FOXI1 p.Ser363Asn Uncertain significance Single submitter
- FOXI1 p.Ser48Phe Uncertain significance Single submitter
- FOXI1 p.Thr245Asn Uncertain significance Single submitter
-
FOXI1 p.Thr246Met
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Thr261Ala
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Thr261Asn
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Thr261Ser
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Thr301Ile Uncertain significance Single submitter
-
FOXI1 p.Val41Met
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
Predictors split 30
The independent predictors disagree with each other — read with care.
-
FOXI1 p.Asp190His
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Glu27Ala
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Gly103Trp
Uncertain significance
Multiple submitters
Pendred syndrome
-
FOXI1 p.Gly67Glu
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Lys182Arg
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Val378Leu
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Arg213Leu
Likely pathogenic
Single submitter
sensorineural hearing loss disorder
- FOXI1 p.Asp141His Uncertain significance Single submitter
-
FOXI1 p.Gln148Glu
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Glu116Lys Uncertain significance Single submitter
-
FOXI1 p.Glu117Lys
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Glu188Lys Uncertain significance Single submitter
- FOXI1 p.Gly101Val Uncertain significance Single submitter
-
FOXI1 p.Gly103Arg
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Gly103Glu Uncertain significance Single submitter
- FOXI1 p.Gly103Val Uncertain significance Single submitter
-
FOXI1 p.Gly138Arg
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Gly90Glu
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.His359Arg
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Ile171Val
Uncertain significance
Single submitter
sensorineural hearing loss disorder
- FOXI1 p.Leu63Phe Uncertain significance Single submitter
- FOXI1 p.Leu96Pro Uncertain significance Single submitter
- FOXI1 p.Lys182Gln Uncertain significance Single submitter
-
FOXI1 p.Pro113Leu
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
FOXI1 p.Pro12Leu
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Pro7Arg Uncertain significance Single submitter
-
FOXI1 p.Pro7Thr
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- FOXI1 p.Ser15Arg Uncertain significance Single submitter
- FOXI1 p.Tyr371Ser Uncertain significance Single submitter
-
FOXI1 p.Tyr75Cys
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
All FOXI1 variants
Pathogenic 1
- p.Asp250fs Single submitter autosomal recessive nonsyndromic hearing loss 4
Likely pathogenic 4
- p.Arg213Leu Single submitter sensorineural hearing loss disorder ⚠
- p.Ser293Arg Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Tyr126Asn Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Tyr31Cys Single submitter hearing loss disorder ⚠
Conflicting classifications of pathogenicity 18
- c.*176G>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ala275= Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ala287= Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Arg123= Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Asp106Glu Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gln148Glu Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly103Ala Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly274= Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ile21= Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Pro239Leu Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Pro243Thr Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Pro324= Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Pro340Ala Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ser10= Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ser163= Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ser242= Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Thr226Ile Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Val364Ile Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
Benign 8
- c.*119C>A Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Arg93= Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Tyr348= Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.574+254C>G Single submitter
- c.574+71T>C Single submitter
- c.575-59G>A Single submitter
- c.*440G>A Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*535A>G Single submitter autosomal recessive nonsyndromic hearing loss 4
Benign/Likely benign 3
Likely benign 47
- c.574+155G>T Multiple submitters
- c.*331G>C Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.*924C>T Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Ala275Thr Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Pro77= Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Ser176= Multiple submitters
- p.Ser3= Multiple submitters
- c.574+20G>A Single submitter
- c.574+6G>A Single submitter
- c.575-19C>T Single submitter
- c.575-5A>G Single submitter
- c.*556A>G Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ala154= Single submitter
- p.Arg46= Single submitter
- p.Asn156= Single submitter
- p.Asn362Ser Single submitter
- p.Asn80= Single submitter
- p.Gln23= Single submitter
- p.Gly103= Single submitter
- p.Gly333= Single submitter
- p.Gly67= Single submitter
- p.Gly78= Single submitter
- p.Ile132= Single submitter
- p.Leu346= Single submitter
- p.Leu353= Single submitter
- p.Phe207= Single submitter
- p.Pro124= Single submitter
- p.Pro140= Single submitter
- p.Pro239= Single submitter
- p.Pro26= Single submitter
- p.Pro44Leu Single submitter
- p.Pro47= Single submitter
- p.Pro59= Single submitter
- p.Pro72= Single submitter
- p.Pro86= Single submitter
- p.Ser290= Single submitter
- p.Ser332= Single submitter
- p.Thr198= Single submitter
- p.Thr260= Single submitter
- p.Thr295= Single submitter
- p.Thr301= Single submitter
- p.Thr312= Single submitter
- p.Thr343= Single submitter
- p.Thr376= Single submitter
- p.Tyr371= Single submitter
- p.Tyr75= Single submitter
- p.Val289= Single submitter
Uncertain significance 148
- c.-18G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Ala255Thr Multiple submitters Pendred syndrome ⚠
- p.Ala338Val Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Arg213Cys Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Arg213His Multiple submitters ⚠
- p.Arg267Gln Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Arg267Trp Multiple submitters ⚠
- p.Asn344Asp Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Asn66Lys Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Asp190His Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Glu27Ala Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly103Trp Multiple submitters Pendred syndrome ⚠
- p.Gly258Glu Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly259Asp Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly303Glu Multiple submitters ⚠
- p.Gly313Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly333Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly67Glu Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly78Ser Multiple submitters ⚠
- p.Lys142Arg Multiple submitters ⚠
- p.Lys182Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Pro26His Multiple submitters ⚠
- p.Pro358Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ser224Phe Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ser296Ile Multiple submitters ⚠
- p.Ser309Asn Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ser363Ile Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ser3Phe Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ser82Asn Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Thr295Met Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Val378Leu Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- c.*1094T>C Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*248G>A Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*285A>G Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*397A>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*418T>C Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*486C>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*576T>A Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*679C>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*707C>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*74G>A Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*815C>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*840G>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*986G>C Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ala165Thr Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ala227Pro Single submitter ⚠
- p.Ala287Thr Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Arg123Gln Single submitter ⚠
- p.Arg143Gly Single submitter ⚠
- p.Arg186His Single submitter ⚠
- p.Arg216Gly Single submitter ⚠
- p.Arg93del Single submitter
- p.Asn169Asp Single submitter sensorineural hearing loss disorder ⚠
- p.Asn195Lys Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Asn29Lys Single submitter ⚠
- p.Asn339Lys Single submitter ⚠
- p.Asn66Ser Single submitter ⚠
- p.Asn80_Pro83del Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Asn80Ser Single submitter ⚠
- p.Asp106Asn Single submitter ⚠
- p.Asp141His Single submitter ⚠
- p.Asp179Val Single submitter ⚠
- p.Asp189Asn Single submitter ⚠
- p.Asp241Val Single submitter ⚠
- p.Asp253Gly Single submitter ⚠
- p.Asp5Tyr Single submitter ⚠
- p.Glu116Lys Single submitter ⚠
- p.Glu117Lys Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Glu188Lys Single submitter ⚠
- p.Glu24Asp Single submitter ⚠
- p.Glu265Ter Single submitter
- p.Glu50Asp Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Glu54Gly Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly101Val Single submitter ⚠
- p.Gly103Arg Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly103Glu Single submitter ⚠
- p.Gly103Val Single submitter ⚠
- p.Gly138Arg Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly254= Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Gly254Arg Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly258Ala Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly258Trp Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly291Arg Single submitter ⚠
- p.Gly313Glu Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly335Asp Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly335Cys Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly51Arg Single submitter ⚠
- p.Gly53= Single submitter
- p.Gly78Arg Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Gly90Glu Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly90Val Single submitter ⚠
- p.His173Gln Single submitter ⚠
- p.His359Arg Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ile171Val Single submitter sensorineural hearing loss disorder ⚠
- p.Leu238Phe Single submitter ⚠
- p.Leu282Ile Single submitter ⚠
- p.Leu282Phe Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Leu282Pro Single submitter ⚠
- p.Leu346Ile Single submitter ⚠
- p.Leu63Phe Single submitter ⚠
- p.Leu6Val Single submitter ⚠
- p.Leu96Pro Single submitter ⚠
- p.Lys182Gln Single submitter ⚠
- p.Met341Thr Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Met345Val Single submitter ⚠
- p.Phe4Tyr Single submitter ⚠
- p.Pro111Ser Single submitter ⚠
- p.Pro113Leu Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Pro12Leu Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Pro158Thr Single submitter ⚠
- p.Pro16Ser Single submitter ⚠
- p.Pro191= Single submitter
- p.Pro268Ser Single submitter ⚠
- p.Pro268Thr Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Pro26Arg Single submitter ⚠
- p.Pro270Leu Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Pro298Leu Single submitter ⚠
- p.Pro306Arg Single submitter ⚠
- p.Pro324Leu Single submitter ⚠
- p.Pro68Ser Single submitter ⚠
- p.Pro79Ala Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Pro79Arg Single submitter ⚠
- p.Pro79Ser Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Pro7Arg Single submitter ⚠
- p.Pro7Thr Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Pro83Leu Single submitter ⚠
- p.Ser129Leu Single submitter ⚠
- p.Ser15Arg Single submitter ⚠
- p.Ser176Leu Single submitter ⚠
- p.Ser224Pro Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ser228Phe Single submitter ⚠
- p.Ser262Gly Single submitter ⚠
- p.Ser290Asn Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ser316Pro Single submitter ⚠
- p.Ser323Tyr Single submitter ⚠
- p.Ser363Asn Single submitter ⚠
- p.Ser48Phe Single submitter ⚠
- p.Thr245Asn Single submitter ⚠
- p.Thr246Met Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Thr261Ala Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Thr261Asn Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Thr261Ser Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Thr301Ile Single submitter ⚠
- p.Trp337Arg Single submitter
- p.Tyr160del Single submitter
- p.Tyr371Ser Single submitter ⚠
- p.Tyr75Cys Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Val41Met Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠