SLC4A11 — 1220 ClinVar variants
All ClinVar germline SLC4A11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →
72 Pathogenic · 31 Pathogenic/Likely pathogenic · 70 Likely pathogenic · 56 Conflicting · 38 Benign · 6 Benign/Likely benign · 671 Likely benign · 276 Uncertain significance
Full SLC4A11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 157
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.
- SLC4A11 p.Arg193Trp Pathogenic Single submitter
-
SLC4A11 p.Arg472Lys
Pathogenic
No assertion criteria
corneal dystrophy-perceptive deafness syndrome
Predictors agree, ClinVar conflicts 16
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SLC4A11 c.44-73C>T
Conflicting
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Ala298Val
Conflicting
Single submitter
corneal dystrophy
-
SLC4A11 p.Ala603Thr
Conflicting
Single submitter
corneal dystrophy
-
SLC4A11 p.Arg172Gln
Conflicting
Single submitter
corneal dystrophy
-
SLC4A11 p.Arg331Gln
Conflicting
Single submitter
corneal dystrophy
-
SLC4A11 p.Arg331Trp
Conflicting
Single submitter
corneal dystrophy
-
SLC4A11 p.Arg613Gln
Conflicting
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Asn150Ser
Conflicting
Single submitter
corneal dystrophy
-
SLC4A11 p.Gly116Ser
Conflicting
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Gly378Arg
Conflicting
Single submitter
corneal dystrophy-perceptive deafness syndrome
-
SLC4A11 p.Gly567Asp
Conflicting
Single submitter
corneal dystrophy
-
SLC4A11 p.Ile108Val
Conflicting
Single submitter
corneal dystrophy
-
SLC4A11 p.Ser197Pro
Conflicting
Single submitter
corneal dystrophy-perceptive deafness syndrome
-
SLC4A11 p.Thr301Met
Conflicting
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Thr306Ala
Conflicting
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Val124Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 121
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SLC4A11 c.44-24G>C
Uncertain significance
Multiple submitters
corneal dystrophy
-
SLC4A11 c.44-7C>T
Uncertain significance
Multiple submitters
corneal dystrophy
-
SLC4A11 p.Ala84Val
Uncertain significance
Multiple submitters
corneal dystrophy
-
SLC4A11 p.Arg142His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC4A11 p.Arg211Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC4A11 p.Arg621His
Uncertain significance
Multiple submitters
corneal dystrophy
-
SLC4A11 p.Asn70Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC4A11 p.Gly295Ser
Uncertain significance
Multiple submitters
corneal dystrophy
-
SLC4A11 p.Gly329Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC4A11 p.Gly726Arg
Uncertain significance
Multiple submitters
corneal dystrophy
-
SLC4A11 p.Gly87Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC4A11 p.Ile350Thr
Uncertain significance
Multiple submitters
corneal dystrophy
-
SLC4A11 p.Met162Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC4A11 p.Met654Val
Uncertain significance
Multiple submitters
corneal dystrophy
-
SLC4A11 p.Pro317Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC4A11 p.Ser30Ile
Uncertain significance
Multiple submitters
corneal dystrophy
-
SLC4A11 p.Thr545Met
Uncertain significance
Multiple submitters
corneal dystrophy
-
SLC4A11 p.Trp224Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SLC4A11 p.Val231Phe Uncertain significance Multiple submitters
-
SLC4A11 c.44-19C>A
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 c.44-34C>T
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 c.44-72G>T
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 c.44-78G>T
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 c.44-79G>A
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 c.44-79G>C
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 c.44-9C>G
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Ala596Thr
Uncertain significance
Single submitter
corneal dystrophy-perceptive deafness syndrome
-
SLC4A11 p.Ala776Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Ala848Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC4A11 p.Arg109His Uncertain significance Single submitter
-
SLC4A11 p.Arg145Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC4A11 p.Arg172Leu Uncertain significance Single submitter
- SLC4A11 p.Arg193Gln Uncertain significance Single submitter
-
SLC4A11 p.Arg254Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Arg254His
Uncertain significance
Single submitter
SLC4A11-related disorder
- SLC4A11 p.Arg266Pro Uncertain significance Single submitter
-
SLC4A11 p.Arg273His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Arg304Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Arg337Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Arg430His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Arg722His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Arg739Leu
Uncertain significance
Single submitter
corneal dystrophy
- SLC4A11 p.Arg788Cys Uncertain significance Single submitter
- SLC4A11 p.Arg859Gln Uncertain significance Single submitter
- SLC4A11 p.Asn153Ser Uncertain significance Single submitter
-
SLC4A11 p.Asn72Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Asn79Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Asp28Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC4A11 p.Asp386Glu Uncertain significance Single submitter
- SLC4A11 p.Asp508Asn Uncertain significance Single submitter
- SLC4A11 p.Gln660His Uncertain significance Single submitter
- SLC4A11 p.Glu316Asp Uncertain significance Single submitter
-
SLC4A11 p.Glu41Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC4A11 p.Glu616Lys Uncertain significance Single submitter
-
SLC4A11 p.Glu626Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Glu63Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC4A11 p.Glu83Lys Uncertain significance Single submitter
- SLC4A11 p.Gly348Val Uncertain significance Single submitter
-
SLC4A11 p.Gly726Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.His212Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.His505Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.His511Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.His533Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.His703Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC4A11 p.His708Asn Uncertain significance Single submitter
-
SLC4A11 p.Ile201Asn
Uncertain significance
Single submitter
congenital hereditary endothelial dystrophy of cornea
-
SLC4A11 p.Ile334Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC4A11 p.Ile432Thr Uncertain significance Single submitter
-
SLC4A11 p.Ile607Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Ile689Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Ile841Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Ile852Val
Uncertain significance
Single submitter
corneal dystrophy
- SLC4A11 p.Leu372Pro Uncertain significance Single submitter
- SLC4A11 p.Leu422Arg Uncertain significance Single submitter
-
SLC4A11 p.Leu547Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Leu547Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Leu606Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC4A11 p.Leu824Pro Uncertain significance Single submitter
-
SLC4A11 p.Met162Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Met205Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Met20Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Met617Leu
Uncertain significance
Single submitter
corneal dystrophy-perceptive deafness syndrome
- SLC4A11 p.Met617Thr Uncertain significance Single submitter
-
SLC4A11 p.Phe365Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC4A11 p.Phe486Ser Uncertain significance Single submitter
- SLC4A11 p.Pro147Ser Uncertain significance Single submitter
-
SLC4A11 p.Pro296Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Pro296Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Pro317Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC4A11 p.Pro325Ser Uncertain significance Single submitter
-
SLC4A11 p.Pro809Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Pro843Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Ser464Ile
Uncertain significance
Single submitter
congenital hereditary endothelial dystrophy of cornea
-
SLC4A11 p.Ser527Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Ser531Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Ser625Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC4A11 p.Ser636Leu Uncertain significance Single submitter
- SLC4A11 p.Ser86Phe Uncertain significance Single submitter
-
SLC4A11 p.Thr130Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC4A11 p.Thr19Ile Uncertain significance Single submitter
- SLC4A11 p.Thr817Lys Uncertain significance Single submitter
- SLC4A11 p.Trp224Cys Uncertain significance Single submitter
- SLC4A11 p.Tyr194Asn Uncertain significance Single submitter
-
SLC4A11 p.Tyr341Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC4A11 p.Val307Ile Uncertain significance Single submitter
- SLC4A11 p.Val747Ile Uncertain significance Single submitter
-
SLC4A11 p.Val789Met
Uncertain significance
Single submitter
corneal dystrophy
- SLC4A11 p.Val868Ile Uncertain significance Single submitter
-
SLC4A11 c.44-24G>T
Uncertain significance
No assertion criteria
corneal dystrophy-perceptive deafness syndrome
-
SLC4A11 c.44-76G>T
Uncertain significance
No assertion criteria
corneal dystrophy-perceptive deafness syndrome
-
SLC4A11 c.44-88A>C
Uncertain significance
No assertion criteria
corneal dystrophy-perceptive deafness syndrome
-
SLC4A11 p.Ala355Ser
Uncertain significance
No assertion criteria
corneal dystrophy-perceptive deafness syndrome
-
SLC4A11 p.Ala445Pro
Uncertain significance
No assertion criteria
corneal dystrophy-perceptive deafness syndrome
-
SLC4A11 p.His312Arg
Uncertain significance
No assertion criteria
corneal dystrophy-perceptive deafness syndrome
-
SLC4A11 p.Ile46Met
Uncertain significance
No assertion criteria
corneal dystrophy-perceptive deafness syndrome
-
SLC4A11 p.Leu413Ser
Uncertain significance
No assertion criteria
corneal dystrophy-perceptive deafness syndrome
-
SLC4A11 p.Leu756Pro
Uncertain significance
No assertion criteria
corneal dystrophy-perceptive deafness syndrome
-
SLC4A11 p.Met259Thr
Uncertain significance
No assertion criteria
corneal dystrophy-perceptive deafness syndrome
-
SLC4A11 p.Pro310Ser
Uncertain significance
No assertion criteria
corneal dystrophy-perceptive deafness syndrome
-
SLC4A11 p.Ser605Phe
Uncertain significance
No assertion criteria
corneal dystrophy-perceptive deafness syndrome
-
SLC4A11 p.Thr39Ile
Uncertain significance
No assertion criteria
corneal dystrophy-perceptive deafness syndrome
Predictors split 18
The independent predictors disagree with each other — read with care.
-
SLC4A11 p.Arg621Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC4A11 p.Glu383Lys
Uncertain significance
Multiple submitters
corneal dystrophy, Fuchs endothelial, 4
-
SLC4A11 p.Ala369Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Ala479Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Ala596Ser
Uncertain significance
Single submitter
corneal dystrophy-perceptive deafness syndrome
-
SLC4A11 p.Arg336Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Gly402Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC4A11 p.Ile591Ser Uncertain significance Single submitter
-
SLC4A11 p.Leu407Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Leu449Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Leu560Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC4A11 p.Leu563Phe Uncertain significance Single submitter
-
SLC4A11 p.Lys358Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Met565Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC4A11 p.Met565Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC4A11 p.Tyr436Cys Uncertain significance Single submitter
- SLC4A11 p.Val491Ile Likely benign Single submitter
- SLC4A11 p.Val71Gly Uncertain significance Single submitter
All SLC4A11 variants
Pathogenic 72
- p.Arg142fs Multiple submitters corneal dystrophy
- p.Arg589Ter Multiple submitters SLC4A11-related disorder
- p.Arg714Ter Multiple submitters Inborn genetic diseases
- p.Arg96Ter Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Cys370Ter Multiple submitters corneal dystrophy, Fuchs endothelial, 4
- p.Gln784Ter Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Ile732fs Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Ser21Ter Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Thr255Met Multiple submitters corneal dystrophy, Fuchs endothelial, 4
- p.Trp224Ter Multiple submitters corneal dystrophy-perceptive deafness syndrome
- c.1282+1G>T Single submitter
- c.1849_1849+1del Single submitter
- c.2012_2018+1del Single submitter corneal dystrophy-perceptive deafness syndrome
- c.2018+2_2018+4del Single submitter corneal dystrophy-perceptive deafness syndrome
- c.2192+1G>T Single submitter
- c.2192+55_2232del Single submitter
- c.2193-2A>T Single submitter
- c.44-73_44-70dup Single submitter
- c.44-81_44-74del Single submitter
- c.44-85C>T Single submitter
- p.Ala169fs Single submitter
- p.Ala790fs Single submitter congenital hereditary endothelial dystrophy of cornea
- p.Arg193Trp Single submitter ⚠
- p.Arg331fs Single submitter
- p.Arg739Gln Single submitter congenital hereditary endothelial dystrophy of cornea
- p.Asn82fs Single submitter
- p.Asp683fs Single submitter
- p.Cys370Arg Single submitter
- p.Gln267Ter Single submitter
- p.Gln411Ter Single submitter
- p.Gln796Ter Single submitter
- p.Glu616Ter Single submitter
- p.Glu63Ter Single submitter
- p.Gly402fs Single submitter
- p.Gly448Asp Single submitter corneal dystrophy
- p.His511fs Single submitter
- p.His552fs Single submitter
- p.Ile599fs Single submitter
- p.Ile847fs Single submitter
- p.Leu218fs Single submitter
- p.Leu47fs Single submitter
- p.Leu773fs Single submitter
- p.Lys500fs Single submitter
- p.Lys513Ter Single submitter
- p.Phe233fs Single submitter
- p.Pro318fs Single submitter
- p.Pro801fs Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Ser131fs Single submitter
- p.Ser305fs Single submitter
- p.Ser473Trp Single submitter congenital hereditary endothelial dystrophy of cornea
- p.Ser553Ter Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Ser638_Leu639insTer Single submitter
- p.Thr188fs Single submitter
- p.Thr290fs Single submitter
- p.Thr385fs Single submitter
- p.Thr545fs Single submitter
- p.Thr802fs Single submitter
- p.Trp224fs Single submitter
- p.Trp446fs Single submitter
- p.Trp450Ter Single submitter
- p.Trp682Ter Single submitter
- p.Tyr194Ter Single submitter
- p.Tyr25Ter Single submitter
- p.Tyr503Ter Single submitter
- p.Tyr573fs Single submitter
- p.Tyr583Ter Single submitter
- p.Tyr799fs Single submitter corneal dystrophy, Fuchs endothelial, 4
- c.2019-16_2019-6delinsGGCCGGCCGG No assertion criteria congenital hereditary endothelial dystrophy of cornea
- c.2423_2454del No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Arg472Lys No assertion criteria corneal dystrophy-perceptive deafness syndrome ⚠
- p.Lys102fs No assertion criteria congenital hereditary endothelial dystrophy of cornea
- p.Tyr444_Ala445delinsThr No assertion criteria corneal dystrophy-perceptive deafness syndrome
Pathogenic/Likely pathogenic 31
- c.1282+1G>A Multiple submitters congenital hereditary endothelial dystrophy of cornea
- c.2192+1G>A Multiple submitters SLC4A11-related disorder
- c.2389-1G>A Multiple submitters corneal dystrophy-perceptive deafness syndrome
- c.2558+1G>A Multiple submitters SLC4A11-related disorder
- c.44-69del Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Arg145fs Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Arg286fs Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Arg43Ter Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Arg714fs Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Arg739Trp Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Arg853Cys Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Arg853His Multiple submitters corneal dystrophy, Fuchs endothelial, 4
- p.Gln209Ter Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Gln285Ter Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Gln577Ter Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Glu127Ter Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Glu720Ter Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Gly397Arg Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Leu371fs Multiple submitters SLC4A11-related disorder
- p.Leu827Pro Multiple submitters SLC4A11-related disorder
- p.Met171fs Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Phe68fs Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Phe697fs Multiple submitters SLC4A11-related disorder
- p.Pro18fs Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Pro757Leu Multiple submitters SLC4A11-related disorder
- p.Ser197Leu Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Ser473Leu Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Thr306fs Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Tyr769fs Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Val192fs Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Val808Met Multiple submitters corneal dystrophy-perceptive deafness syndrome
Likely pathogenic 70
- c.1168+1G>A Multiple submitters corneal dystrophy-perceptive deafness syndrome
- c.1490-2A>G Multiple submitters corneal dystrophy-perceptive deafness syndrome
- c.1849+1G>A Multiple submitters corneal dystrophy-perceptive deafness syndrome
- c.2018+1G>A Multiple submitters congenital hereditary endothelial dystrophy of cornea
- c.2192+1del Multiple submitters corneal dystrophy-perceptive deafness syndrome
- c.2193-12_2201del Multiple submitters SLC4A11-related disorder
- c.291+1G>T Multiple submitters corneal dystrophy, Fuchs endothelial, 4
- c.730-2A>C Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Ala253Val Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Arg788His Multiple submitters corneal dystrophy, Fuchs endothelial, 4
- p.Gly401Arg Multiple submitters congenital hereditary endothelial dystrophy of cornea
- p.Leu532fs Multiple submitters SLC4A11-related disorder
- p.Met840Val Multiple submitters corneal dystrophy, Fuchs endothelial, 4
- p.Phe657del Multiple submitters corneal dystrophy-perceptive deafness syndrome
- c.1042+1G>A Single submitter
- c.1042+1G>C Single submitter
- c.1043-2A>G Single submitter
- c.1169-2A>G Single submitter
- c.1282+2T>G Single submitter corneal dystrophy-perceptive deafness syndrome
- c.1283-1G>C Single submitter
- c.1415+1G>T Single submitter
- c.1416-1G>A Single submitter
- c.1416-1G>C Single submitter corneal dystrophy-perceptive deafness syndrome
- c.1742+1G>A Single submitter corneal dystrophy-perceptive deafness syndrome
- c.1742+24_1757del Single submitter corneal dystrophy-perceptive deafness syndrome
- c.1743-1G>A Single submitter
- c.2192+2T>C Single submitter corneal dystrophy-perceptive deafness syndrome
- c.2375_2388+18del Single submitter
- c.2389-1_2389delinsTT Single submitter corneal dystrophy-perceptive deafness syndrome
- c.241+1G>C Single submitter
- c.2559-2A>G Single submitter congenital hereditary endothelial dystrophy of cornea
- c.44-91A>G Single submitter corneal dystrophy-perceptive deafness syndrome
- c.523+1G>C Single submitter
- c.730-649_941del Single submitter
- c.89-2A>G Single submitter
- c.949-2A>C Single submitter
- c.949-2A>T Single submitter
- p.Ala264fs Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Ala420fs Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Ala717fs Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Arg220fs Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Arg859Ter Single submitter
- p.Asn155fs Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Asp49fs Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Gln633Ter Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Gln761Ter Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Glu303fs Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Glu383Ter Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Glu41Ter Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Gly402Asp Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Gly693Glu Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Ile564fs Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Leu340fs Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Leu403fs Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Leu606fs Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Leu827del Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Phe26fs Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Phe454fs Single submitter SLC4A11-related disorder
- p.Ser216Asn Single submitter
- p.Ser752fs Single submitter
- p.Thr418Ile Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Thr817Met Single submitter congenital hereditary endothelial dystrophy of cornea
- p.Trp224Ser Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Trp446Ter Single submitter congenital hereditary endothelial dystrophy of cornea
- p.Tyr31Ter Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Tyr367Ter Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Tyr622fs Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Tyr815fs Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Val519fs Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Val60fs Single submitter corneal dystrophy-perceptive deafness syndrome
Conflicting classifications of pathogenicity 56
- c.1043-10C>T Single submitter corneal dystrophy
- c.1169-12G>A Single submitter corneal dystrophy
- c.1169-13C>T Single submitter corneal dystrophy
- c.1489+8C>T Single submitter corneal dystrophy
- c.1490-5C>T Single submitter
- c.1742+8G>A Single submitter corneal dystrophy
- c.2193-13C>T Single submitter corneal dystrophy
- c.2388+7G>A Single submitter corneal dystrophy
- c.242-6C>T Single submitter corneal dystrophy
- c.2558+12T>A Single submitter corneal dystrophy
- c.44-73C>T Single submitter Inborn genetic diseases ⚠
- c.44-74dup Single submitter corneal dystrophy, Fuchs endothelial, 4
- c.523+9G>A Single submitter corneal dystrophy
- c.606-15C>T Single submitter corneal dystrophy
- p.Ala298Val Single submitter corneal dystrophy ⚠
- p.Ala456= Single submitter corneal dystrophy
- p.Ala603Thr Single submitter corneal dystrophy ⚠
- p.Ala688Thr Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Arg142= Single submitter corneal dystrophy
- p.Arg145= Single submitter corneal dystrophy
- p.Arg172Gln Single submitter corneal dystrophy ⚠
- p.Arg217Cys Single submitter congenital hereditary endothelial dystrophy of cornea
- p.Arg331Gln Single submitter corneal dystrophy ⚠
- p.Arg331Trp Single submitter corneal dystrophy ⚠
- p.Arg613Gln Single submitter Inborn genetic diseases ⚠
- p.Asn150Ser Single submitter corneal dystrophy ⚠
- p.Asp347= Single submitter
- p.Glu127Lys Single submitter congenital hereditary endothelial dystrophy of cornea
- p.Gly116Ser Single submitter Inborn genetic diseases ⚠
- p.Gly378Arg Single submitter corneal dystrophy-perceptive deafness syndrome ⚠
- p.Gly402= Single submitter
- p.Gly567Asp Single submitter corneal dystrophy ⚠
- p.Ile108Val Single submitter corneal dystrophy ⚠
- p.Ile263= Single submitter corneal dystrophy
- p.Ile389= Single submitter corneal dystrophy
- p.Leu340= Single submitter corneal dystrophy
- p.Leu449= Single submitter corneal dystrophy
- p.Leu524= Single submitter corneal dystrophy
- p.Leu648= Single submitter corneal dystrophy
- p.Leu686= Single submitter corneal dystrophy
- p.Leu687= Single submitter corneal dystrophy
- p.Leu785= Single submitter corneal dystrophy
- p.Met832Ile Single submitter posterior polymorphous corneal dystrophy 1
- p.Phe377= Single submitter corneal dystrophy
- p.Phe40= Single submitter corneal dystrophy
- p.Ser197Pro Single submitter corneal dystrophy-perceptive deafness syndrome ⚠
- p.Ser473= Single submitter corneal dystrophy
- p.Ser593= Single submitter corneal dystrophy
- p.Ser643= Single submitter corneal dystrophy
- p.Thr301Met Single submitter Inborn genetic diseases ⚠
- p.Thr306Ala Single submitter Inborn genetic diseases ⚠
- p.Thr731= Single submitter corneal dystrophy
- p.Thr738Met Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Thr797= Single submitter corneal dystrophy
- p.Tyr729Cys Single submitter Inborn genetic diseases
- p.Val124Ile Single submitter Inborn genetic diseases ⚠
Benign 38
- c.1043-15A>C Multiple submitters corneal dystrophy
- c.1043-19T>C Multiple submitters
- c.1043-23TC[2] Multiple submitters
- c.1283-11C>T Multiple submitters corneal dystrophy
- c.1415+97T>G Multiple submitters corneal dystrophy-perceptive deafness syndrome
- c.1489+141T>C Multiple submitters congenital hereditary endothelial dystrophy of cornea
- c.2193-18C>T Multiple submitters corneal dystrophy-perceptive deafness syndrome
- c.2193-4G>A Multiple submitters corneal dystrophy
- c.2389-9C>T Multiple submitters corneal dystrophy
- c.2558+17A>T Multiple submitters
- c.292-86G>C Multiple submitters corneal dystrophy-perceptive deafness syndrome
- c.44-121G>C Multiple submitters corneal dystrophy
- c.44-400C>G Multiple submitters corneal dystrophy-perceptive deafness syndrome
- c.729+140C>A Multiple submitters corneal dystrophy-perceptive deafness syndrome
- c.729+34G>A Multiple submitters corneal dystrophy-perceptive deafness syndrome
- c.730-29T>A Multiple submitters corneal dystrophy-perceptive deafness syndrome
- c.730-31T>C Multiple submitters corneal dystrophy-perceptive deafness syndrome
- c.89-8G>T Multiple submitters corneal dystrophy
- c.-111T>C Multiple submitters congenital hereditary endothelial dystrophy of cornea
- c.*34C>T Multiple submitters corneal dystrophy
- p.Asn134Ser Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Asn537= Multiple submitters corneal dystrophy
- p.Asp870= Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Ser197= Multiple submitters corneal dystrophy
- p.Thr447= Multiple submitters corneal dystrophy
- c.1043-9del Single submitter
- c.1169-5dup Single submitter
- c.2193-17G>A Single submitter
- c.2559-5del Single submitter
- c.291+126G>A Single submitter corneal dystrophy-perceptive deafness syndrome
- c.44-8C>G Single submitter corneal dystrophy-perceptive deafness syndrome
- c.523+16C>T Single submitter
- c.730-29_730-28insC Single submitter corneal dystrophy-perceptive deafness syndrome
- c.88+189G>A Single submitter corneal dystrophy-perceptive deafness syndrome
- c.88+201A>C Single submitter corneal dystrophy-perceptive deafness syndrome
- c.89-15C>T Single submitter
- p.Ser553= Single submitter
- c.44-329A>G No assertion criteria SLC4A11-related disorder
Benign/Likely benign 6
- c.1168+20C>T Multiple submitters
- c.1169-17C>T Multiple submitters
- c.2388+19G>A Multiple submitters
- p.Ala420= Multiple submitters
- p.Cys595= Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Thr817= Multiple submitters corneal dystrophy
Likely benign 671
Showing the top 300 by review status; the full set is in the sitemap.
- c.1043-15del Multiple submitters
- c.1168+10T>G Multiple submitters corneal dystrophy-perceptive deafness syndrome
- c.1282+9G>A Multiple submitters
- c.1489+17G>T Multiple submitters
- c.1489+9G>A Multiple submitters
- c.2192+15G>T Multiple submitters
- c.2389-19C>T Multiple submitters
- c.2389-20C>G Multiple submitters
- c.2389-8G>A Multiple submitters corneal dystrophy-perceptive deafness syndrome
- c.242-15G>A Multiple submitters
- c.44-321C>A Multiple submitters
- c.729+10T>C Multiple submitters corneal dystrophy-perceptive deafness syndrome
- c.730-15A>G Multiple submitters
- c.88+14G>C Multiple submitters
- c.89-10G>T Multiple submitters
- c.948+16C>T Multiple submitters
- c.948+17G>A Multiple submitters
- c.*225C>T Multiple submitters corneal dystrophy
- p.Ala167= Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Ala406= Multiple submitters
- p.Ala630= Multiple submitters corneal dystrophy
- p.Ala664= Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Ala704= Multiple submitters
- p.Ala798= Multiple submitters
- p.Arg141His Multiple submitters
- p.Arg788= Multiple submitters
- p.Gly225= Multiple submitters
- p.His294= Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Ile400= Multiple submitters
- p.Ile59= Multiple submitters
- p.Ile702= Multiple submitters
- p.Ile847= Multiple submitters
- p.Leu827= Multiple submitters
- p.Phe26= Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Phe830= Multiple submitters
- p.Pro299= Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Ser305= Multiple submitters
- p.Ser752= Multiple submitters
- p.Thr165= Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Thr419= Multiple submitters
- p.Thr557= Multiple submitters corneal dystrophy-perceptive deafness syndrome
- p.Val559Met Multiple submitters
- p.Val642= Multiple submitters corneal dystrophy-perceptive deafness syndrome
- c.1042+10C>T Single submitter
- c.1042+12C>T Single submitter
- c.1042+9C>T Single submitter
- c.1043-13C>G Single submitter
- c.1043-16_1043-15del Single submitter
- c.1043-16C>G Single submitter
- c.1043-16C>T Single submitter
- c.1043-16dup Single submitter
- c.1043-17_1043-16dup Single submitter
- c.1043-18C>T Single submitter
- c.1043-19del Single submitter
- c.1043-20C>A Single submitter
- c.1043-4C>T Single submitter
- c.1043-8A>G Single submitter
- c.1043-9C>G Single submitter
- c.1043-9C>T Single submitter
- c.1168+10T>C Single submitter
- c.1168+11G>C Single submitter
- c.1168+13C>G Single submitter
- c.1168+13C>T Single submitter
- c.1168+14G>A Single submitter
- c.1168+8G>A Single submitter
- c.1168+8G>T Single submitter
- c.1168+9C>G Single submitter
- c.1169-10A>G Single submitter
- c.1169-11C>T Single submitter
- c.1169-14C>T Single submitter
- c.1169-19G>C Single submitter
- c.1169-4A>C Single submitter
- c.1169-9C>T Single submitter
- c.1282+10G>A Single submitter
- c.1282+10G>C Single submitter
- c.1282+12G>A Single submitter
- c.1282+17G>C Single submitter
- c.1282+18G>A Single submitter
- c.1282+20G>A Single submitter
- c.1282+8G>A Single submitter
- c.1282+8G>C Single submitter
- c.1282+8G>T Single submitter
- c.1283-10del Single submitter
- c.1283-11C>A Single submitter
- c.1283-11C>G Single submitter
- c.1283-14C>T Single submitter
- c.1283-16T>C Single submitter
- c.1283-20_1283-11dup Single submitter
- c.1283-20G>A Single submitter
- c.1283-20G>C Single submitter
- c.1283-5T>C Single submitter
- c.1283-7C>T Single submitter
- c.1283-9T>C Single submitter
- c.1415+11C>A Single submitter
- c.1415+15C>T Single submitter
- c.1415+16G>A Single submitter
- c.1415+16G>T Single submitter
- c.1415+8G>A Single submitter
- c.1415+8G>C Single submitter
- c.1415+9C>A Single submitter
- c.1415+9C>T Single submitter
- c.1416-19G>A Single submitter
- c.1416-19G>T Single submitter
- c.1416-20G>A Single submitter
- c.1416-4G>A Single submitter
- c.1489+10G>A Single submitter
- c.1489+14G>A Single submitter
- c.1489+16G>A Single submitter
- c.1489+17G>A Single submitter
- c.1489+19C>T Single submitter
- c.1489+7G>A Single submitter
- c.1490-10G>A Single submitter
- c.1490-12G>A Single submitter
- c.1490-14G>A Single submitter
- c.1490-14G>C Single submitter
- c.1490-18G>A Single submitter
- c.1490-19T>C Single submitter
- c.1742+19A>G Single submitter
- c.1742+20G>A Single submitter
- c.1742+9C>G Single submitter
- c.1743-16C>T Single submitter
- c.1743-17G>C Single submitter
- c.1743-18T>C Single submitter
- c.1743-19A>G Single submitter
- c.1743-4C>G Single submitter
- c.1743-8G>T Single submitter
- c.1743-9T>C Single submitter
- c.1849+11G>A Single submitter
- c.1849+12C>T Single submitter
- c.1849+13C>T Single submitter
- c.1849+14G>A Single submitter
- c.1849+14G>T Single submitter
- c.1849+17C>T Single submitter
- c.1849+18G>A Single submitter
- c.1849+19G>A Single submitter
- c.1849+19G>C Single submitter
- c.1850-10C>T Single submitter
- c.1850-12C>A Single submitter
- c.1850-12C>G Single submitter
- c.1850-14G>C Single submitter
- c.1850-17C>G Single submitter
- c.1850-5T>C Single submitter
- c.1850-7A>G Single submitter
- c.2018+17A>G Single submitter
- c.2018+19G>A Single submitter
- c.2018+7A>G Single submitter corneal dystrophy-perceptive deafness syndrome
- c.2018+8G>A Single submitter
- c.2018+9G>A Single submitter
- c.2019-11G>A Single submitter
- c.2019-11G>C Single submitter
- c.2019-12C>G Single submitter
- c.2019-12C>T Single submitter
- c.2019-14C>T Single submitter
- c.2019-15G>T Single submitter
- c.2019-16T>C Single submitter
- c.2019-17G>A Single submitter
- c.2019-17G>T Single submitter
- c.2019-19G>A Single submitter
- c.2019-20C>T Single submitter
- c.2019-4G>A Single submitter
- c.2019-4G>T Single submitter
- c.2019-7G>A Single submitter
- c.2019-9C>G Single submitter
- c.2192+10A>C Single submitter
- c.2192+11G>A Single submitter
- c.2192+17C>A Single submitter
- c.2192+9G>C Single submitter
- c.2192+9G>T Single submitter
- c.2193-13C>G Single submitter
- c.2193-16G>C Single submitter
- c.2193-19G>A Single submitter
- c.2193-20_2193-19insTGCG Single submitter
- c.2193-20C>T Single submitter
- c.2193-4G>C Single submitter
- c.2193-5C>G Single submitter
- c.2193-5C>T Single submitter
- c.2193-6C>T Single submitter
- c.2193-7A>G Single submitter
- c.2193-8C>T Single submitter
- c.2193-9C>T Single submitter
- c.2388+11G>A Single submitter
- c.2388+11G>T Single submitter
- c.2388+14C>G Single submitter
- c.2388+15C>T Single submitter
- c.2388+18C>T Single submitter
- c.2389-10C>G Single submitter
- c.2389-15C>T Single submitter
- c.2389-17G>A Single submitter
- c.2389-18G>A Single submitter
- c.2389-18G>T Single submitter
- c.2389-19C>G Single submitter
- c.2389-19del Single submitter
- c.2389-8G>C Single submitter
- c.241+10C>T Single submitter
- c.241+12G>A Single submitter
- c.241+20G>C Single submitter
- c.242-16C>G Single submitter
- c.242-16C>T Single submitter
- c.242-17C>A Single submitter
- c.242-17C>T Single submitter
- c.242-19C>G Single submitter
- c.242-5G>A Single submitter corneal dystrophy-perceptive deafness syndrome
- c.242-5G>C Single submitter
- c.242-7C>T Single submitter
- c.242-8T>G Single submitter
- c.2558+12_2558+13insTG Single submitter
- c.2558+16C>A Single submitter
- c.2558+8C>A Single submitter
- c.2559-10C>T Single submitter
- c.2559-12C>G Single submitter
- c.2559-16C>G Single submitter
- c.2559-16C>T Single submitter
- c.2559-17TCCC[4] Single submitter
- c.2559-18G>C Single submitter
- c.2559-20C>T Single submitter
- c.2559-20del Single submitter
- c.2559-4A>G Single submitter
- c.2559-5C>T Single submitter corneal dystrophy-perceptive deafness syndrome
- c.291+15C>A Single submitter
- c.291+19A>T Single submitter
- c.291+20G>A Single submitter
- c.291+9C>A Single submitter
- c.292-10G>A Single submitter
- c.292-16C>T Single submitter
- c.292-18T>C Single submitter
- c.292-22_292-20del Single submitter
- c.292-8C>G Single submitter
- c.44-20C>T Single submitter
- c.44-23T>A Single submitter
- c.44-29G>A Single submitter
- c.44-2A>G Single submitter Inborn genetic diseases
- c.44-35C>T Single submitter corneal dystrophy-perceptive deafness syndrome
- c.44-368C>T Single submitter
- c.44-414C>T Single submitter
- c.44-56A>G Single submitter
- c.44-64A>C Single submitter
- c.44-71G>A Single submitter
- c.44-73C>A Single submitter
- c.44-77G>A Single submitter
- c.44-80C>G Single submitter
- c.44-80C>T Single submitter
- c.523+10G>A Single submitter
- c.523+10G>T Single submitter
- c.523+17G>A Single submitter
- c.523+17G>C Single submitter
- c.523+17G>T Single submitter
- c.523+8C>A Single submitter
- c.523+8C>T Single submitter
- c.523+9G>C Single submitter
- c.523+9G>T Single submitter
- c.524-12C>T Single submitter
- c.524-13A>T Single submitter
- c.524-14C>G Single submitter
- c.524-14C>T Single submitter
- c.524-16C>A Single submitter
- c.524-17C>G Single submitter
- c.524-18C>T Single submitter
- c.524-20C>G Single submitter
- c.524-6C>T Single submitter
- c.524-7T>C Single submitter corneal dystrophy-perceptive deafness syndrome
- c.605+13G>C Single submitter
- c.605+14C>G Single submitter
- c.605+15C>T Single submitter
- c.605+7T>G Single submitter
- c.605+8G>A Single submitter
- c.606-10C>T Single submitter
- c.606-11G>A Single submitter
- c.606-12C>G Single submitter
- c.606-12C>T Single submitter
- c.606-19T>G Single submitter
- c.606-20_606-18del Single submitter
- c.606-20G>A Single submitter
- c.606-7_606-6del Single submitter
- c.606-8C>T Single submitter
- c.729+16C>T Single submitter
- c.729+17G>A Single submitter
- c.729+17G>C Single submitter
- c.729+18T>G Single submitter
- c.729+8G>C Single submitter
- c.729+9G>A Single submitter
- c.730-10C>T Single submitter
- c.730-16del Single submitter
- c.730-18C>G Single submitter
- c.730-18C>T Single submitter
- c.730-20C>T Single submitter
- c.730-4C>G Single submitter
- c.730-7C>T Single submitter
- c.88+10TC[3] Single submitter
- c.88+12_88+13del Single submitter
- c.88+13C>T Single submitter
- c.88+14G>A Single submitter
- c.88+15G>A Single submitter
- c.88+17G>A Single submitter
- c.88+17G>T Single submitter
- c.88+8C>A Single submitter
- c.88+9C>T Single submitter
- c.89-14T>C Single submitter
- c.89-9_89-8delinsTT Single submitter
- c.948+19C>T Single submitter
- c.948+20G>A Single submitter
Uncertain significance 276
- c.44-24G>C Multiple submitters corneal dystrophy ⚠
- c.44-7C>T Multiple submitters corneal dystrophy ⚠
- p.Ala121Ser Multiple submitters Inborn genetic diseases
- p.Ala144Thr Multiple submitters congenital hereditary endothelial dystrophy of cornea
- p.Ala249Val Multiple submitters Inborn genetic diseases
- p.Ala420Thr Multiple submitters Inborn genetic diseases
- p.Ala84Val Multiple submitters corneal dystrophy ⚠
- p.Arg142His Multiple submitters Inborn genetic diseases ⚠
- p.Arg211Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg220His Multiple submitters Inborn genetic diseases
- p.Arg273Cys Multiple submitters Inborn genetic diseases
- p.Arg621Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg621His Multiple submitters corneal dystrophy ⚠
- p.Arg66Leu Multiple submitters Inborn genetic diseases
- p.Asn70Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp434Gly Multiple submitters Inborn genetic diseases
- p.Glu151Asp Multiple submitters corneal dystrophy
- p.Glu383Lys Multiple submitters corneal dystrophy, Fuchs endothelial, 4 ⚠
- p.Gly295Ser Multiple submitters corneal dystrophy ⚠
- p.Gly329Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly387Arg Multiple submitters corneal dystrophy
- p.Gly726Arg Multiple submitters corneal dystrophy ⚠
- p.Gly87Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile350Thr Multiple submitters corneal dystrophy ⚠
- p.Lys206Arg Multiple submitters Inborn genetic diseases
- p.Met162Val Multiple submitters Inborn genetic diseases ⚠
- p.Met654Val Multiple submitters corneal dystrophy ⚠
- p.Met838Val Multiple submitters Inborn genetic diseases
- p.Pro317Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro598Leu Multiple submitters Inborn genetic diseases
- p.Ser21Pro Multiple submitters Inborn genetic diseases
- p.Ser30Ile Multiple submitters corneal dystrophy ⚠
- p.Ser452Thr Multiple submitters Inborn genetic diseases
- p.Ser527Arg Multiple submitters Inborn genetic diseases
- p.Thr545Met Multiple submitters corneal dystrophy ⚠
- p.Thr568Met Multiple submitters Inborn genetic diseases
- p.Trp224Leu Multiple submitters Inborn genetic diseases ⚠
- p.Trp224Phe Multiple submitters congenital hereditary endothelial dystrophy of cornea
- p.Tyr503Cys Multiple submitters Inborn genetic diseases
- p.Val231Phe Multiple submitters ⚠
- c.1042+3A>G Single submitter
- c.1042+4C>T Single submitter
- c.1043-15_1043-10delinsCTCCCT Single submitter corneal dystrophy-perceptive deafness syndrome
- c.1168+3G>A Single submitter
- c.1282+19C>T Single submitter
- c.1416-3C>T Single submitter
- c.1489+6T>C Single submitter
- c.2192+2dup Single submitter
- c.2193-12G>A Single submitter corneal dystrophy-perceptive deafness syndrome
- c.2389-9C>G Single submitter
- c.291+3G>A Single submitter corneal dystrophy
- c.44-19C>A Single submitter Inborn genetic diseases ⚠
- c.44-34C>T Single submitter Inborn genetic diseases ⚠
- c.44-353G>A Single submitter
- c.44-358C>T Single submitter corneal dystrophy-perceptive deafness syndrome
- c.44-72G>T Single submitter Inborn genetic diseases ⚠
- c.44-78G>T Single submitter Inborn genetic diseases ⚠
- c.44-79G>A Single submitter Inborn genetic diseases ⚠
- c.44-79G>C Single submitter Inborn genetic diseases ⚠
- c.44-9C>G Single submitter Inborn genetic diseases ⚠
- c.523+6G>A Single submitter
- c.*109C>T Single submitter corneal dystrophy
- c.*27C>T Single submitter corneal dystrophy
- c.*323C>T Single submitter corneal dystrophy
- c.*351C>T Single submitter corneal dystrophy
- p.Ala369Thr Single submitter Inborn genetic diseases ⚠
- p.Ala376Thr Single submitter Inborn genetic diseases
- p.Ala406Thr Single submitter Inborn genetic diseases
- p.Ala406Val Single submitter Inborn genetic diseases
- p.Ala420Val Single submitter
- p.Ala445Thr Single submitter Inborn genetic diseases
- p.Ala479Thr Single submitter Inborn genetic diseases ⚠
- p.Ala596Ser Single submitter corneal dystrophy-perceptive deafness syndrome ⚠
- p.Ala596Thr Single submitter corneal dystrophy-perceptive deafness syndrome ⚠
- p.Ala600Val Single submitter congenital hereditary endothelial dystrophy of cornea
- p.Ala665Thr Single submitter Inborn genetic diseases
- p.Ala669Val Single submitter Inborn genetic diseases
- p.Ala745Thr Single submitter
- p.Ala776Val Single submitter Inborn genetic diseases ⚠
- p.Ala848Thr Single submitter Inborn genetic diseases ⚠
- p.Ala863Pro Single submitter
- p.Ala871Thr Single submitter Inborn genetic diseases
- p.Arg109His Single submitter ⚠
- p.Arg112Cys Single submitter
- p.Arg137Trp Single submitter corneal dystrophy
- p.Arg145Lys Single submitter Inborn genetic diseases ⚠
- p.Arg172Leu Single submitter ⚠
- p.Arg193Gln Single submitter ⚠
- p.Arg254Cys Single submitter Inborn genetic diseases ⚠
- p.Arg254His Single submitter SLC4A11-related disorder ⚠
- p.Arg266Pro Single submitter ⚠
- p.Arg273His Single submitter Inborn genetic diseases ⚠
- p.Arg304Cys Single submitter Inborn genetic diseases ⚠
- p.Arg336Leu Single submitter Inborn genetic diseases ⚠
- p.Arg337Ser Single submitter Inborn genetic diseases ⚠
- p.Arg430His Single submitter Inborn genetic diseases ⚠
- p.Arg589Gln Single submitter
- p.Arg613Pro Single submitter Inborn genetic diseases
- p.Arg66His Single submitter Inborn genetic diseases
- p.Arg714Gln Single submitter Inborn genetic diseases
- p.Arg722Cys Single submitter Inborn genetic diseases
- p.Arg722His Single submitter Inborn genetic diseases ⚠
- p.Arg739Leu Single submitter corneal dystrophy ⚠
- p.Arg788Cys Single submitter ⚠
- p.Arg859Gln Single submitter ⚠
- p.Arg96Gln Single submitter Inborn genetic diseases
- p.Asn153Ser Single submitter ⚠
- p.Asn381Ser Single submitter Inborn genetic diseases
- p.Asn462Ser Single submitter Inborn genetic diseases
- p.Asn72Ser Single submitter Inborn genetic diseases ⚠
- p.Asn79Ser Single submitter Inborn genetic diseases ⚠
- p.Asp113Asn Single submitter
- p.Asp115Val Single submitter Inborn genetic diseases
- p.Asp157Gly Single submitter corneal dystrophy
- p.Asp28Glu Single submitter Inborn genetic diseases ⚠
- p.Asp386Glu Single submitter ⚠
- p.Asp508Asn Single submitter ⚠
- p.Gln660His Single submitter ⚠
- p.Gln761Arg Single submitter Inborn genetic diseases
- p.Glu316Asp Single submitter ⚠
- p.Glu41Lys Single submitter Inborn genetic diseases ⚠
- p.Glu44Asp Single submitter Inborn genetic diseases
- p.Glu475Lys Single submitter
- p.Glu476del Single submitter corneal dystrophy-perceptive deafness syndrome
- p.Glu616Lys Single submitter ⚠
- p.Glu626Lys Single submitter Inborn genetic diseases ⚠
- p.Glu63Asp Single submitter Inborn genetic diseases ⚠
- p.Glu671Lys Single submitter corneal dystrophy
- p.Glu795Ala Single submitter Inborn genetic diseases
- p.Glu83Lys Single submitter ⚠
- p.Gly348Val Single submitter ⚠
- p.Gly402Ala Single submitter Inborn genetic diseases ⚠
- p.Gly726Val Single submitter Inborn genetic diseases ⚠
- p.Gly818Ser Single submitter
- p.Gly88Ser Single submitter Inborn genetic diseases
- p.His212Gln Single submitter Inborn genetic diseases
- p.His212Pro Single submitter Inborn genetic diseases ⚠
- p.His505Asn Single submitter Inborn genetic diseases ⚠
- p.His511Asp Single submitter Inborn genetic diseases ⚠
- p.His533Gln Single submitter Inborn genetic diseases ⚠
- p.His703Arg Single submitter Inborn genetic diseases ⚠
- p.His708Asn Single submitter ⚠
- p.Ile182Val Single submitter Inborn genetic diseases
- p.Ile201Asn Single submitter congenital hereditary endothelial dystrophy of cornea ⚠
- p.Ile334Val Single submitter Inborn genetic diseases ⚠
- p.Ile432Thr Single submitter ⚠
- p.Ile591Ser Single submitter ⚠
- p.Ile607Val Single submitter Inborn genetic diseases ⚠
- p.Ile658Val Single submitter
- p.Ile689Val Single submitter Inborn genetic diseases ⚠
- p.Ile841Val Single submitter Inborn genetic diseases ⚠
- p.Ile852Val Single submitter corneal dystrophy ⚠
- p.Leu372Pro Single submitter ⚠
- p.Leu407Phe Single submitter Inborn genetic diseases ⚠
- p.Leu422Arg Single submitter ⚠
- p.Leu449Val Single submitter Inborn genetic diseases ⚠
- p.Leu547Arg Single submitter Inborn genetic diseases ⚠
- p.Leu547Pro Single submitter Inborn genetic diseases ⚠
- p.Leu560Phe Single submitter Inborn genetic diseases ⚠
- p.Leu563del Single submitter
- p.Leu563Phe Single submitter ⚠
- p.Leu563Val Single submitter Inborn genetic diseases
- p.Leu606Val Single submitter Inborn genetic diseases ⚠
- p.Leu777Phe Single submitter Inborn genetic diseases
- p.Leu824Pro Single submitter ⚠
- p.Lys319Met Single submitter Inborn genetic diseases
- p.Lys33Glu Single submitter Inborn genetic diseases
- p.Lys358Arg Single submitter Inborn genetic diseases ⚠
- p.Lys471Arg Single submitter Inborn genetic diseases
- p.Lys619= Single submitter corneal dystrophy
- p.Met160Val Single submitter
- p.Met162Ile Single submitter Inborn genetic diseases ⚠
- p.Met205Val Single submitter Inborn genetic diseases ⚠
- p.Met20Val Single submitter Inborn genetic diseases ⚠
- p.Met243Thr Single submitter
- p.Met565Thr Single submitter Inborn genetic diseases ⚠
- p.Met565Val Single submitter Inborn genetic diseases ⚠
- p.Met617Leu Single submitter corneal dystrophy-perceptive deafness syndrome ⚠
- p.Met617Thr Single submitter ⚠
- p.Met646Val Single submitter
- p.Met838Leu Single submitter Inborn genetic diseases
- p.Phe326Leu Single submitter Inborn genetic diseases
- p.Phe365Leu Single submitter Inborn genetic diseases ⚠
- p.Phe486Ser Single submitter ⚠
- p.Phe650Val Single submitter
- p.Pro147Ser Single submitter ⚠
- p.Pro296Leu Single submitter Inborn genetic diseases ⚠
- p.Pro296Ser Single submitter Inborn genetic diseases ⚠
- p.Pro317Ser Single submitter Inborn genetic diseases ⚠
- p.Pro325Ser Single submitter ⚠
- p.Pro809Ser Single submitter Inborn genetic diseases ⚠
- p.Pro843Leu Single submitter Inborn genetic diseases ⚠
- p.Ser464Ile Single submitter congenital hereditary endothelial dystrophy of cornea ⚠
- p.Ser527Gly Single submitter Inborn genetic diseases ⚠
- p.Ser531Thr Single submitter Inborn genetic diseases ⚠
- p.Ser539Ile Single submitter
- p.Ser57Phe Single submitter Inborn genetic diseases
- p.Ser618Arg Single submitter Inborn genetic diseases
- p.Ser625Gly Single submitter Inborn genetic diseases ⚠
- p.Ser636Leu Single submitter ⚠
- p.Ser86Phe Single submitter ⚠
- p.Thr128Met Single submitter Inborn genetic diseases
- p.Thr130Ala Single submitter Inborn genetic diseases ⚠
- p.Thr19Ile Single submitter ⚠
- p.Thr204Ile Single submitter corneal dystrophy
- p.Thr474Arg Single submitter
- p.Thr474Met Single submitter corneal dystrophy
- p.Thr485Met Single submitter
- p.Thr817Lys Single submitter ⚠
- p.Trp224Cys Single submitter ⚠
- p.Trp762Cys Single submitter corneal dystrophy
- p.Tyr194Asn Single submitter ⚠
- p.Tyr341Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr436Cys Single submitter ⚠
- p.Tyr458Cys Single submitter Inborn genetic diseases
- p.Tyr774Cys Single submitter Inborn genetic diseases
- p.Val175Ile Single submitter
- p.Val185Ile Single submitter Inborn genetic diseases
- p.Val231Ile Single submitter corneal dystrophy
- p.Val234Ile Single submitter Inborn genetic diseases
- p.Val307Ile Single submitter ⚠
- p.Val391Met Single submitter
- p.Val713Met Single submitter
- p.Val71Gly Single submitter ⚠
- p.Val747Ile Single submitter ⚠
- p.Val789Met Single submitter corneal dystrophy ⚠
- p.Val868Ile Single submitter ⚠
- c.1042+4dup No assertion criteria corneal dystrophy-perceptive deafness syndrome
- c.241+8G>A No assertion criteria corneal dystrophy-perceptive deafness syndrome
- c.292-6C>G No assertion criteria corneal dystrophy-perceptive deafness syndrome
- c.292-8C>T No assertion criteria corneal dystrophy-perceptive deafness syndrome
- c.44-24G>T No assertion criteria corneal dystrophy-perceptive deafness syndrome ⚠
- c.44-76G>T No assertion criteria corneal dystrophy-perceptive deafness syndrome ⚠
- c.44-88A>C No assertion criteria corneal dystrophy-perceptive deafness syndrome ⚠
- c.524-5C>T No assertion criteria corneal dystrophy-perceptive deafness syndrome
- c.605+6T>A No assertion criteria corneal dystrophy-perceptive deafness syndrome
- c.949-43A>G No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Ala355Ser No assertion criteria corneal dystrophy-perceptive deafness syndrome ⚠
- p.Ala445Pro No assertion criteria corneal dystrophy-perceptive deafness syndrome ⚠
- p.Ala558Pro No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Ala596= No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Asn668= No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Asn79= No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Asp180Glu No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Asp594= No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Glu226Gln No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.His312Arg No assertion criteria corneal dystrophy-perceptive deafness syndrome ⚠
- p.His93Arg No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Ile235Val No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Ile46Met No assertion criteria corneal dystrophy-perceptive deafness syndrome ⚠
- p.Ile478Thr No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Ile607Phe No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Ile65Thr No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Ile690Met No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Ile850= No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Leu288Pro No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Leu413Ser No assertion criteria corneal dystrophy-perceptive deafness syndrome ⚠
- p.Leu639= No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Leu696= No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Leu756Pro No assertion criteria corneal dystrophy-perceptive deafness syndrome ⚠
- p.Lys279Arg No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Met259Thr No assertion criteria corneal dystrophy-perceptive deafness syndrome ⚠
- p.Phe408Leu No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Phe620= No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Pro170Thr No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Pro241His No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Pro310Ser No assertion criteria corneal dystrophy-perceptive deafness syndrome ⚠
- p.Pro412= No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Ser21Ala No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Ser409Cys No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Ser561= No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Ser605Phe No assertion criteria corneal dystrophy-perceptive deafness syndrome ⚠
- p.Thr39Ile No assertion criteria corneal dystrophy-perceptive deafness syndrome ⚠
- p.Thr447Met No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Val667_Asn668insAlaAlaLeuVal No assertion criteria corneal dystrophy-perceptive deafness syndrome
- p.Val71Ala No assertion criteria corneal dystrophy-perceptive deafness syndrome