SLC26A5 — 319 ClinVar variants
All ClinVar germline SLC26A5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 131 flagged for review →
14 Pathogenic · 8 Likely pathogenic · 16 Conflicting · 40 Benign · 12 Benign/Likely benign · 83 Likely benign · 146 Uncertain significance
Full SLC26A5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 131
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SLC26A5 p.Ala216Thr
Conflicting
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Ala726Val
Conflicting
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Cys415Phe
Conflicting
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Glu30Gly
Conflicting
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Glu610Lys
Conflicting
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Glu723Gly
Conflicting
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Ile567Val
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 61
- SLC26A5 p.Pro617Ser Conflicting Single submitter
Predictors lean, ClinVar uncertain 100
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SLC26A5 p.Ala173Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A5 p.Ala709Pro
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 61
-
SLC26A5 p.Arg31Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A5 p.Arg689Gln
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 61
-
SLC26A5 p.Gln368His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A5 p.Gly371Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A5 p.Gly636Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A5 p.Ile384Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A5 p.Ile467Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A5 p.Leu496Pro
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 61
-
SLC26A5 p.Lys513Asn
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 61
-
SLC26A5 p.Lys622Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SLC26A5 p.Ser553Asn Uncertain significance Multiple submitters
-
SLC26A5 p.Thr354Asn
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 61
-
SLC26A5 p.Val259Met
Uncertain significance
Multiple submitters
hearing loss disorder
- SLC26A5 p.Val264Ile Uncertain significance Multiple submitters
-
SLC26A5 p.Val298Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A5 p.Val349Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A5 p.Val519Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A5 p.Ala173Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Ala288Ser Uncertain significance Single submitter
- SLC26A5 p.Ala288Val Uncertain significance Single submitter
-
SLC26A5 p.Ala296Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Ala377Val Uncertain significance Single submitter
- SLC26A5 p.Ala442Thr Uncertain significance Single submitter
-
SLC26A5 p.Ala590Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Ala595Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Ala597Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Arg211Cys Uncertain significance Single submitter
-
SLC26A5 p.Arg211His
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Arg236Gln Uncertain significance Single submitter
- SLC26A5 p.Arg236Trp Uncertain significance Single submitter
-
SLC26A5 p.Arg58Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Arg689Trp Uncertain significance Single submitter
- SLC26A5 p.Asn166Ser Uncertain significance Single submitter
-
SLC26A5 p.Asn253His
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Asn736His Uncertain significance Single submitter
-
SLC26A5 p.Asn736Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Asp2Tyr Uncertain significance Single submitter
-
SLC26A5 p.Asp600Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Gln14Lys Uncertain significance Single submitter
-
SLC26A5 p.Gln29Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Glu433Asp Uncertain significance Single submitter
- SLC26A5 p.Glu5Gln Uncertain significance Single submitter
- SLC26A5 p.Glu721Lys Uncertain significance Single submitter
-
SLC26A5 p.Gly127Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Gly127Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Gly135Ser Uncertain significance Single submitter
-
SLC26A5 p.Gly212Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Gly270Asp
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 61
- SLC26A5 p.Gly274Arg Uncertain significance Single submitter
-
SLC26A5 p.Gly274Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Gly275Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Gly371Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Gly407Ser Uncertain significance Single submitter
- SLC26A5 p.Gly414Asp Uncertain significance Single submitter
- SLC26A5 p.Gly450Glu Uncertain significance Single submitter
-
SLC26A5 p.His704Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Ile156Thr Uncertain significance Single submitter
-
SLC26A5 p.Ile425Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Ile663Met Uncertain significance Single submitter
-
SLC26A5 p.Ile706Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Ile9Met Uncertain significance Single submitter
-
SLC26A5 p.Ile9Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Leu10Phe Uncertain significance Single submitter
- SLC26A5 p.Leu435Phe Uncertain significance Single submitter
-
SLC26A5 p.Lys310Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Lys35Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Met180Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Met299Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Met357Thr Uncertain significance Single submitter
-
SLC26A5 p.Met63Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Phe452Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Phe481Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Pro153Gln Uncertain significance Single submitter
-
SLC26A5 p.Pro159Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Pro21Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Pro327Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Pro54Ala Uncertain significance Single submitter
- SLC26A5 p.Pro72Ser Uncertain significance Single submitter
-
SLC26A5 p.Pro742Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Ser400Arg Uncertain significance Single submitter
- SLC26A5 p.Ser441Leu Uncertain significance Single submitter
-
SLC26A5 p.Ser478Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Ser680Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Ser729Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Thr223Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Thr624Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Thr624Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Thr647Ala Uncertain significance Single submitter
- SLC26A5 p.Thr738Ser Uncertain significance Single submitter
-
SLC26A5 p.Thr741Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Tyr667Cys Uncertain significance Single submitter
-
SLC26A5 p.Val162Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Val259Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Val318Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Val353Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Val670Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Val674Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Ala347Asp
Uncertain significance
No assertion criteria
SLC26A5-related disorder
Predictors split 23
The independent predictors disagree with each other — read with care.
-
SLC26A5 p.Ala345Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A5 p.Ile445Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A5 p.Phe632Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SLC26A5 p.Ala579Thr Uncertain significance Single submitter
- SLC26A5 p.Ala579Val Uncertain significance Single submitter
-
SLC26A5 p.Arg571Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Asn59Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Cys192Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Gln389Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Glu666Gln Uncertain significance Single submitter
-
SLC26A5 p.Gly561Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Gly98Ala Likely pathogenic Single submitter
- SLC26A5 p.Ile22Thr Uncertain significance Single submitter
-
SLC26A5 p.Ile443Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Ile88Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Leu378Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Phe646Leu
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 61
- SLC26A5 p.Pro287Leu Uncertain significance Single submitter
-
SLC26A5 p.Pro287Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A5 p.Pro459Arg Uncertain significance Single submitter
-
SLC26A5 p.Ser680Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Val147Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A5 p.Arg130Ser
Pathogenic
No assertion criteria
autosomal recessive nonsyndromic hearing loss 61
All SLC26A5 variants
Pathogenic 14
- p.Val317fs Multiple submitters autosomal recessive nonsyndromic hearing loss 61
- p.Ala413fs Single submitter
- p.Arg150Ter Single submitter
- p.Asp36fs Single submitter
- p.Glu374Ter Single submitter
- p.Gly636fs Single submitter
- p.Leu273Ter Single submitter
- p.Lys285fs Single submitter
- p.Phe111fs Single submitter
- p.Pro66_Ile67insTer Single submitter
- p.Tyr17Ter Single submitter
- p.Val499fs Single submitter
- p.Arg130Ser No assertion criteria autosomal recessive nonsyndromic hearing loss 61 ⚠
- p.Trp70Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 61
Likely pathogenic 8
- c.1120-2A>G Single submitter
- c.1311+1G>T Single submitter
- c.1312-1G>A Single submitter
- c.1515-1G>A Single submitter
- c.1986+1G>A Single submitter
- c.404-1G>C Single submitter
- p.Gly98Ala Single submitter ⚠
- p.Ser680fs Single submitter
Conflicting classifications of pathogenicity 16
- c.2042-5A>G Single submitter
- c.571-12dup Single submitter
- p.Ala216Thr Single submitter Inborn genetic diseases ⚠
- p.Ala726Val Single submitter Inborn genetic diseases ⚠
- p.Arg716fs Single submitter autosomal recessive nonsyndromic hearing loss 61
- p.Cys415Phe Single submitter Inborn genetic diseases ⚠
- p.Gln648His Single submitter Inborn genetic diseases
- p.Glu30Gly Single submitter Inborn genetic diseases ⚠
- p.Glu610Lys Single submitter Inborn genetic diseases ⚠
- p.Glu723Gly Single submitter Inborn genetic diseases ⚠
- p.Gly212= Single submitter
- p.Ile567Val Single submitter autosomal recessive nonsyndromic hearing loss 61 ⚠
- p.Phe693= Single submitter
- p.Pro39= Single submitter
- p.Pro617Ser Single submitter ⚠
- p.Val195= Single submitter
Benign 40
- c.1233+143G>A Multiple submitters
- c.1312-44T>C Multiple submitters
- c.1312-49C>T Multiple submitters
- c.1312-76G>A Multiple submitters
- c.1514+187A>G Multiple submitters
- c.1515-44C>T Multiple submitters
- c.1677+77T>C Multiple submitters
- c.1986+30T>C Multiple submitters autosomal recessive nonsyndromic hearing loss 61
- c.2041+107T>C Multiple submitters
- c.2041+2675T>C Multiple submitters
- c.403+14T>C Multiple submitters autosomal recessive nonsyndromic hearing loss 61
- c.570+6G>A Multiple submitters
- c.570+86C>T Multiple submitters
- c.889-85C>G Multiple submitters
- c.972-60A>G Multiple submitters
- p.Asn330Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 61
- p.Lys530= Multiple submitters
- c.1120-257G>A Single submitter
- c.1233+292A>G Single submitter
- c.1234-218A>G Single submitter
- c.1311+212G>C Single submitter
- c.1311+295G>A Single submitter
- c.1585-163dup Single submitter
- c.1678-323G>C Single submitter
- c.2041+120_2041+122del Single submitter
- c.2041+232G>A Single submitter
- c.2042-85del Single submitter
- c.2042-95dup Single submitter
- c.293-318G>A Single submitter
- c.403+151C>T Single submitter
- c.571-283A>G Single submitter
- c.571-321A>G Single submitter
- c.735+303A>G Single submitter
- c.736-273G>C Single submitter
- c.888+217_888+218del Single submitter
- c.971+179_971+180del Single submitter
- c.971+200_971+202dup Single submitter
- c.971+200dup Single submitter
- c.971+215del Single submitter
- c.972-244C>T Single submitter
Benign/Likely benign 12
- c.1233+14A>G Multiple submitters
- c.153-10G>A Multiple submitters
- c.292+8_292+9dup Multiple submitters
- c.-13A>C Multiple submitters
- c.-53-2A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 61
- p.Asp524= Multiple submitters
- p.Ile445= Multiple submitters
- p.Leu46Pro Multiple submitters autosomal recessive nonsyndromic hearing loss 61
- p.Pro26= Multiple submitters
- p.Pro728= Multiple submitters
- p.Ser434= Multiple submitters
- p.Thr605Ala Multiple submitters
Likely benign 83
- c.1312-17G>T Multiple submitters
- c.2042-13C>T Multiple submitters
- p.Ala288= Multiple submitters
- p.Asn166= Multiple submitters
- p.Tyr673= Multiple submitters
- c.1119+13A>G Single submitter
- c.1119+15T>G Single submitter
- c.1119+198C>T Single submitter
- c.1119+272C>T Single submitter
- c.1120-11A>G Single submitter
- c.1234-10T>C Single submitter
- c.1234-14del Single submitter
- c.1234-7C>A Single submitter
- c.1311+13T>C Single submitter
- c.1311+20G>A Single submitter
- c.1408-13G>A Single submitter
- c.1514+11A>G Single submitter
- c.1515-252G>A Single submitter
- c.1515-43G>A Single submitter
- c.152+11T>C Single submitter
- c.152+20G>T Single submitter
- c.1584+16A>G Single submitter
- c.1678-12T>G Single submitter
- c.1785+10C>G Single submitter
- c.1785+9T>C Single submitter
- c.1786-232A>G Single submitter
- c.2041+15A>G Single submitter
- c.2041+19T>A Single submitter
- c.2041+2628G>T Single submitter
- c.2041+7A>G Single submitter
- c.2042-10423T>C Single submitter
- c.2042-125dup Single submitter
- c.293-5C>T Single submitter
- c.404-131A>G Single submitter
- c.404-25G>T Single submitter
- c.404-45A>G Single submitter
- c.571-16C>T Single submitter
- c.571-18G>T Single submitter
- c.735+13C>T Single submitter
- c.736-16A>G Single submitter
- c.888+14G>T Single submitter
- c.888+17del Single submitter
- c.889-5T>C Single submitter
- c.971+283C>T Single submitter
- c.971+29G>T Single submitter
- c.972-326G>A Single submitter
- c.*28A>G Single submitter
- c.*2T>A Single submitter
- p.Ala555= Single submitter
- p.Ala597= Single submitter
- p.Ala604= Single submitter
- p.Asn589= Single submitter
- p.Asp370= Single submitter
- p.Asp550= Single submitter
- p.Gln403= Single submitter
- p.His707= Single submitter
- p.Ile348= Single submitter
- p.Ile489= Single submitter
- p.Leu292= Single submitter
- p.Phe241= Single submitter
- p.Pro287= Single submitter
- p.Pro331= Single submitter
- p.Pro635= Single submitter
- p.Ser133= Single submitter
- p.Ser224= Single submitter
- p.Ser242= Single submitter
- p.Ser725= Single submitter
- p.Thr214= Single submitter
- p.Thr247= Single submitter
- p.Thr320= Single submitter
- p.Thr390= Single submitter
- p.Thr406= Single submitter
- p.Thr410= Single submitter
- p.Thr90= Single submitter
- p.Tyr228= Single submitter
- p.Tyr578= Single submitter
- p.Val157= Single submitter
- p.Val297= Single submitter
- p.Val582= Single submitter
- p.Val639Ile Single submitter
- p.Val670= Single submitter
- c.571-4del No assertion criteria SLC26A5-related disorder
- p.Gly405Glu No assertion criteria SLC26A5-related disorder
Uncertain significance 146
- p.Ala173Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala345Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala709Pro Multiple submitters autosomal recessive nonsyndromic hearing loss 61 ⚠
- p.Arg31Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg689Gln Multiple submitters autosomal recessive nonsyndromic hearing loss 61 ⚠
- p.Gln368His Multiple submitters Inborn genetic diseases ⚠
- p.Gly371Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly636Glu Multiple submitters Inborn genetic diseases ⚠
- p.Ile384Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ile445Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile467Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu496Pro Multiple submitters autosomal recessive nonsyndromic hearing loss 61 ⚠
- p.Leu551Phe Multiple submitters Inborn genetic diseases
- p.Lys513Asn Multiple submitters autosomal recessive nonsyndromic hearing loss 61 ⚠
- p.Lys622Arg Multiple submitters Inborn genetic diseases ⚠
- p.Phe632Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser553Asn Multiple submitters ⚠
- p.Thr354Asn Multiple submitters autosomal recessive nonsyndromic hearing loss 61 ⚠
- p.Thr470Asn Multiple submitters
- p.Val259Met Multiple submitters hearing loss disorder ⚠
- p.Val264Ile Multiple submitters ⚠
- p.Val298Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val349Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val519Met Multiple submitters Inborn genetic diseases ⚠
- c.1119+1G>A Single submitter
- c.1311+3G>T Single submitter
- c.1312-13T>A Single submitter
- c.1514+15T>C Single submitter
- c.1986+3A>T Single submitter
- c.2042-3T>G Single submitter
- c.2042-9101dup Single submitter
- c.735+6dup Single submitter
- c.735+6T>C Single submitter
- c.888+8A>G Single submitter
- p.Ala173Gly Single submitter Inborn genetic diseases ⚠
- p.Ala288Ser Single submitter ⚠
- p.Ala288Val Single submitter ⚠
- p.Ala296Val Single submitter Inborn genetic diseases ⚠
- p.Ala377Val Single submitter ⚠
- p.Ala442Thr Single submitter ⚠
- p.Ala579Thr Single submitter ⚠
- p.Ala579Val Single submitter ⚠
- p.Ala590Thr Single submitter Inborn genetic diseases ⚠
- p.Ala595Glu Single submitter Inborn genetic diseases ⚠
- p.Ala597Thr Single submitter Inborn genetic diseases ⚠
- p.Arg211Cys Single submitter ⚠
- p.Arg211His Single submitter Inborn genetic diseases ⚠
- p.Arg236Gln Single submitter ⚠
- p.Arg236Trp Single submitter ⚠
- p.Arg558Ter Single submitter
- p.Arg571Thr Single submitter Inborn genetic diseases ⚠
- p.Arg58Lys Single submitter Inborn genetic diseases ⚠
- p.Arg689= Single submitter
- p.Arg689Trp Single submitter ⚠
- p.Asn166Ser Single submitter ⚠
- p.Asn253His Single submitter Inborn genetic diseases ⚠
- p.Asn59Ile Single submitter Inborn genetic diseases ⚠
- p.Asn736His Single submitter ⚠
- p.Asn736Ser Single submitter Inborn genetic diseases ⚠
- p.Asp2Tyr Single submitter ⚠
- p.Asp524_Tyr526del Single submitter
- p.Asp600Gly Single submitter Inborn genetic diseases ⚠
- p.Asp708fs Single submitter
- p.Cys192Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys415Tyr Single submitter Inborn genetic diseases
- p.Gln14Lys Single submitter ⚠
- p.Gln29Leu Single submitter Inborn genetic diseases ⚠
- p.Gln389Glu Single submitter Inborn genetic diseases ⚠
- p.Gln539Arg Single submitter Inborn genetic diseases
- p.Glu433Asp Single submitter ⚠
- p.Glu5Gln Single submitter ⚠
- p.Glu666Gln Single submitter ⚠
- p.Glu721Lys Single submitter ⚠
- p.Gly127Arg Single submitter Inborn genetic diseases ⚠
- p.Gly127Glu Single submitter Inborn genetic diseases ⚠
- p.Gly135Ser Single submitter ⚠
- p.Gly212Glu Single submitter Inborn genetic diseases ⚠
- p.Gly270Asp Single submitter autosomal recessive nonsyndromic hearing loss 61 ⚠
- p.Gly274Arg Single submitter ⚠
- p.Gly274Asp Single submitter Inborn genetic diseases ⚠
- p.Gly275Asp Single submitter Inborn genetic diseases ⚠
- p.Gly371Ser Single submitter Inborn genetic diseases ⚠
- p.Gly407Ser Single submitter ⚠
- p.Gly414Asp Single submitter ⚠
- p.Gly450Glu Single submitter ⚠
- p.Gly561Glu Single submitter Inborn genetic diseases ⚠
- p.Gly583Arg Single submitter Inborn genetic diseases
- p.His704Arg Single submitter
- p.His704Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile156Thr Single submitter ⚠
- p.Ile22Thr Single submitter ⚠
- p.Ile425Val Single submitter Inborn genetic diseases ⚠
- p.Ile443Val Single submitter Inborn genetic diseases ⚠
- p.Ile663Met Single submitter ⚠
- p.Ile706Val Single submitter Inborn genetic diseases ⚠
- p.Ile88Met Single submitter Inborn genetic diseases ⚠
- p.Ile9Met Single submitter ⚠
- p.Ile9Val Single submitter Inborn genetic diseases ⚠
- p.Leu10Phe Single submitter ⚠
- p.Leu378Val Single submitter Inborn genetic diseases ⚠
- p.Leu435Phe Single submitter ⚠
- p.Lys235_Arg236delinsAsnTrp Single submitter
- p.Lys310Asn Single submitter Inborn genetic diseases ⚠
- p.Lys35Arg Single submitter Inborn genetic diseases ⚠
- p.Met180Val Single submitter Inborn genetic diseases ⚠
- p.Met299Leu Single submitter Inborn genetic diseases ⚠
- p.Met357Thr Single submitter ⚠
- p.Met63Val Single submitter Inborn genetic diseases ⚠
- p.Phe278Leu Single submitter
- p.Phe452Cys Single submitter Inborn genetic diseases ⚠
- p.Phe481Ile Single submitter Inborn genetic diseases ⚠
- p.Phe481Leu Single submitter Inborn genetic diseases
- p.Phe646Leu Single submitter autosomal recessive nonsyndromic hearing loss 61 ⚠
- p.Pro153Gln Single submitter ⚠
- p.Pro159Ser Single submitter Inborn genetic diseases ⚠
- p.Pro21Leu Single submitter Inborn genetic diseases ⚠
- p.Pro287Leu Single submitter ⚠
- p.Pro287Ser Single submitter Inborn genetic diseases ⚠
- p.Pro327Ser Single submitter Inborn genetic diseases ⚠
- p.Pro459Arg Single submitter ⚠
- p.Pro54Ala Single submitter ⚠
- p.Pro72Ser Single submitter ⚠
- p.Pro742Leu Single submitter Inborn genetic diseases ⚠
- p.Ser400Arg Single submitter ⚠
- p.Ser441Leu Single submitter ⚠
- p.Ser478Phe Single submitter Inborn genetic diseases ⚠
- p.Ser680Asn Single submitter Inborn genetic diseases ⚠
- p.Ser680Gly Single submitter Inborn genetic diseases ⚠
- p.Ser729Tyr Single submitter Inborn genetic diseases ⚠
- p.Thr223Ala Single submitter Inborn genetic diseases ⚠
- p.Thr624Arg Single submitter Inborn genetic diseases ⚠
- p.Thr624Ile Single submitter Inborn genetic diseases ⚠
- p.Thr647Ala Single submitter ⚠
- p.Thr738Ser Single submitter ⚠
- p.Thr741Ala Single submitter Inborn genetic diseases ⚠
- p.Tyr667Cys Single submitter ⚠
- p.Val147Ile Single submitter Inborn genetic diseases ⚠
- p.Val162Ile Single submitter Inborn genetic diseases ⚠
- p.Val18Met Single submitter Inborn genetic diseases
- p.Val259Leu Single submitter Inborn genetic diseases ⚠
- p.Val318Ile Single submitter Inborn genetic diseases ⚠
- p.Val353Met Single submitter Inborn genetic diseases ⚠
- p.Val655Ile Single submitter Inborn genetic diseases
- p.Val670Ile Single submitter Inborn genetic diseases ⚠
- p.Val674Ala Single submitter Inborn genetic diseases ⚠
- p.Ala347Asp No assertion criteria SLC26A5-related disorder ⚠