SLC26A3 — 858 ClinVar variants
All ClinVar germline SLC26A3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 222 flagged for review →
59 Pathogenic · 13 Pathogenic/Likely pathogenic · 56 Likely pathogenic · 18 Conflicting · 43 Benign · 16 Benign/Likely benign · 405 Likely benign · 248 Uncertain significance
Full SLC26A3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 222
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
SLC26A3 p.Ala347Thr
Pathogenic/Likely pathogenic
Multiple submitters
SLC26A3-related disorder
Predictors agree, ClinVar conflicts 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- SLC26A3 p.Ala178Val Conflicting Single submitter
- SLC26A3 p.Asp688His Conflicting Single submitter
- SLC26A3 p.Asp715Asn Conflicting Single submitter
-
SLC26A3 p.Asp99Asn
Conflicting
Single submitter
Inborn genetic diseases
-
SLC26A3 p.Cys596Gly
Conflicting
Single submitter
congenital secretory chloride diarrhea 1
-
SLC26A3 p.His237Gln
Conflicting
Single submitter
congenital secretory chloride diarrhea 1
-
SLC26A3 p.Ile499Val
Conflicting
Single submitter
Inborn genetic diseases
- SLC26A3 p.Ser394Ile Conflicting Single submitter
-
SLC26A3 p.Tyr520Cys
Conflicting
Single submitter
congenital secretory chloride diarrhea 1
Predictors lean, ClinVar uncertain 153
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 153
-
SLC26A3 p.Ala144Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Ala144Val
Uncertain significance
Multiple submitters
congenital secretory chloride diarrhea 1
-
SLC26A3 p.Ala177Thr
Uncertain significance
Multiple submitters
congenital secretory chloride diarrhea 1
-
SLC26A3 p.Ala20Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Arg152Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Arg152His
Uncertain significance
Multiple submitters
congenital secretory chloride diarrhea 1
-
SLC26A3 p.Arg463Gln
Uncertain significance
Multiple submitters
congenital secretory chloride diarrhea 1
-
SLC26A3 p.Asp320Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Asp558Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Asp687Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Gln582Glu
Uncertain significance
Multiple submitters
congenital secretory chloride diarrhea 1
-
SLC26A3 p.Gly306Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Gly379Ala
Uncertain significance
Multiple submitters
congenital secretory chloride diarrhea 1
-
SLC26A3 p.Gly550Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Ile10Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Ile292Val
Uncertain significance
Multiple submitters
congenital secretory chloride diarrhea 1
-
SLC26A3 p.Ile480Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Ile613Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Leu568Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Lys283Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Lys314Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Lys49Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Lys730Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Met135Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Met296Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Phe674Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Pro289Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Pro323Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Pro541Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Ser252Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SLC26A3 p.Ser398Phe Uncertain significance Multiple submitters
-
SLC26A3 p.Ser56Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Thr155Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Thr183Ile
Uncertain significance
Multiple submitters
congenital secretory chloride diarrhea 1
-
SLC26A3 p.Thr622Ile
Uncertain significance
Multiple submitters
congenital secretory chloride diarrhea 1
-
SLC26A3 p.Thr744Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Tyr104Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Tyr527Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Val182Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Val275Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Val684Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Val684Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Val704Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Ala144Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A3 p.Ala20Thr
Uncertain significance
Single submitter
congenital secretory chloride diarrhea 1
- SLC26A3 p.Ala216Val Uncertain significance Single submitter
- SLC26A3 p.Ala218Val Uncertain significance Single submitter
-
SLC26A3 p.Ala433Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A3 p.Ala559Pro
Uncertain significance
Single submitter
congenital secretory chloride diarrhea 1
- SLC26A3 p.Ala559Val Uncertain significance Single submitter
- SLC26A3 p.Ala574Thr Uncertain significance Single submitter
-
SLC26A3 p.Ala574Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Ala66Ser Uncertain significance Single submitter
- SLC26A3 p.Arg566Gln Uncertain significance Single submitter
-
SLC26A3 p.Arg569His
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Arg571Cys Uncertain significance Single submitter
- SLC26A3 p.Arg571His Uncertain significance Single submitter
- SLC26A3 p.Arg571Ser Uncertain significance Single submitter
- SLC26A3 p.Arg579Gln Uncertain significance Single submitter
- SLC26A3 p.Arg752His Uncertain significance Single submitter
- SLC26A3 p.Asn610Asp Uncertain significance Single submitter
- SLC26A3 p.Asn611Ser Uncertain significance Single submitter
-
SLC26A3 p.Asp170Glu
Uncertain significance
Single submitter
congenital secretory chloride diarrhea 1
- SLC26A3 p.Asp171Glu Uncertain significance Single submitter
- SLC26A3 p.Asp332Glu Uncertain significance Single submitter
- SLC26A3 p.Asp332Gly Uncertain significance Single submitter
- SLC26A3 p.Asp366Asn Uncertain significance Single submitter
-
SLC26A3 p.Asp468Asn
Uncertain significance
Single submitter
congenital secretory chloride diarrhea 1
-
SLC26A3 p.Asp528His
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Asp558Ala Uncertain significance Single submitter
-
SLC26A3 p.Asp617Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Asp680Glu Uncertain significance Single submitter
- SLC26A3 p.Asp99Ala Uncertain significance Single submitter
- SLC26A3 p.Cys343Arg Uncertain significance Single submitter
- SLC26A3 p.Cys43Tyr Uncertain significance Single submitter
- SLC26A3 p.Cys596Arg Uncertain significance Single submitter
-
SLC26A3 p.Gln411Leu
Uncertain significance
Single submitter
congenital secretory chloride diarrhea 1
- SLC26A3 p.Gln48Glu Uncertain significance Single submitter
-
SLC26A3 p.Gln504Pro
Uncertain significance
Single submitter
congenital secretory chloride diarrhea 1
- SLC26A3 p.Gln612His Uncertain significance Single submitter
-
SLC26A3 p.Gln8Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A3 p.Glu374Gln
Uncertain significance
Single submitter
congenital secretory chloride diarrhea 1
- SLC26A3 p.Glu607Asp Uncertain significance Single submitter
-
SLC26A3 p.Glu607Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Gly105Ala Uncertain significance Single submitter
- SLC26A3 p.Gly143Arg Uncertain significance Single submitter
- SLC26A3 p.Gly324Val Uncertain significance Single submitter
- SLC26A3 p.Gly390Arg Uncertain significance Single submitter
-
SLC26A3 p.Gly407Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A3 p.Gly561Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Gly750Arg Uncertain significance Single submitter
-
SLC26A3 p.Ile100Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Ile274Val Uncertain significance Single submitter
- SLC26A3 p.Ile329Val Uncertain significance Single submitter
- SLC26A3 p.Ile416Val Uncertain significance Single submitter
-
SLC26A3 p.Ile420Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Ile458Val Uncertain significance Single submitter
- SLC26A3 p.Ile53Phe Uncertain significance Single submitter
- SLC26A3 p.Ile549Val Uncertain significance Single submitter
- SLC26A3 p.Ile557Thr Uncertain significance Single submitter
- SLC26A3 p.Ile60Arg Uncertain significance Single submitter
- SLC26A3 p.Ile620Val Uncertain significance Single submitter
- SLC26A3 p.Ile629Leu Uncertain significance Single submitter
- SLC26A3 p.Ile675Phe Uncertain significance Single submitter
-
SLC26A3 p.Ile691Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A3 p.Ile713Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Ile741Thr Uncertain significance Single submitter
- SLC26A3 p.Ile745Val Uncertain significance Single submitter
- SLC26A3 p.Ile85Thr Uncertain significance Single submitter
-
SLC26A3 p.Leu117Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A3 p.Leu397Arg
Uncertain significance
Single submitter
SLC26A3-related disorder
- SLC26A3 p.Leu461Ser Uncertain significance Single submitter
-
SLC26A3 p.Leu671Phe
Uncertain significance
Single submitter
congenital secretory chloride diarrhea 1
-
SLC26A3 p.Lys26Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Lys26Thr Uncertain significance Single submitter
- SLC26A3 p.Lys33Arg Uncertain significance Single submitter
-
SLC26A3 p.Lys507Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Lys723Asn Uncertain significance Single submitter
- SLC26A3 p.Met296Val Uncertain significance Single submitter
-
SLC26A3 p.Met474Arg
Uncertain significance
Single submitter
congenital secretory chloride diarrhea 1
- SLC26A3 p.Met474Ile Uncertain significance Single submitter
-
SLC26A3 p.Phe494Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Phe700Ser Uncertain significance Single submitter
-
SLC26A3 p.Phe709Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Pro102Ser Uncertain significance Single submitter
-
SLC26A3 p.Pro733Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Pro759Leu Uncertain significance Single submitter
- SLC26A3 p.Pro759Ser Uncertain significance Single submitter
-
SLC26A3 p.Ser186Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A3 p.Ser208Tyr
Uncertain significance
Single submitter
congenital secretory chloride diarrhea 1
-
SLC26A3 p.Ser46Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Ser669Leu Uncertain significance Single submitter
- SLC26A3 p.Ser706Asn Uncertain significance Single submitter
-
SLC26A3 p.Thr238Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Trp462Arg Uncertain significance Single submitter
-
SLC26A3 p.Trp472Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A3 p.Tyr204Asp
Uncertain significance
Single submitter
congenital secretory chloride diarrhea 1
-
SLC26A3 p.Tyr305Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A3 p.Tyr361Cys
Uncertain significance
Single submitter
congenital secretory chloride diarrhea 1
- SLC26A3 p.Tyr726Asn Uncertain significance Single submitter
-
SLC26A3 p.Val149Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Val201Leu Uncertain significance Single submitter
- SLC26A3 p.Val333Ala Uncertain significance Single submitter
- SLC26A3 p.Val333Met Uncertain significance Single submitter
- SLC26A3 p.Val340Ile Uncertain significance Single submitter
- SLC26A3 p.Val360Ile Uncertain significance Single submitter
-
SLC26A3 p.Val535Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Val598Asp Uncertain significance Single submitter
-
SLC26A3 p.Val615Ile
Uncertain significance
Single submitter
congenital secretory chloride diarrhea 1
- SLC26A3 p.Val684Leu Uncertain significance Single submitter
Predictors split 59
The independent predictors disagree with each other — read with care.
-
SLC26A3 p.Ala93Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Arg281His
Uncertain significance
Multiple submitters
congenital secretory chloride diarrhea 1
-
SLC26A3 p.Arg554Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Asn153Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Gly393Trp
Likely pathogenic
Multiple submitters
congenital secretory chloride diarrhea 1
-
SLC26A3 p.Gly485Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Ile514Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Pro101Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Ser46Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Ser707Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Val298Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A3 p.Val439Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SLC26A3 p.Ala300Thr Uncertain significance Single submitter
-
SLC26A3 p.Ala347Ser
Uncertain significance
Single submitter
congenital secretory chloride diarrhea 1
- SLC26A3 p.Ala655Val Uncertain significance Single submitter
- SLC26A3 p.Arg13Ser Uncertain significance Single submitter
-
SLC26A3 p.Arg281Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Arg752Cys Uncertain significance Single submitter
- SLC26A3 p.Arg754Trp Uncertain significance Single submitter
- SLC26A3 p.Gln231Pro Uncertain significance Single submitter
- SLC26A3 p.Glu207Lys Uncertain significance Single submitter
-
SLC26A3 p.Glu703Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A3 p.Gly128Ser
Likely pathogenic
Single submitter
congenital secretory chloride diarrhea 1
- SLC26A3 p.Gly212Ser Uncertain significance Single submitter
-
SLC26A3 p.Gly485Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A3 p.Gly585Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A3 p.Gly585Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A3 p.His124Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A3 p.His719Tyr
Uncertain significance
Single submitter
congenital secretory chloride diarrhea 1
-
SLC26A3 p.Ile549Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Ile629Thr Uncertain significance Single submitter
-
SLC26A3 p.Ile639Asn
Uncertain significance
Single submitter
congenital secretory chloride diarrhea 1
-
SLC26A3 p.Leu226Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A3 p.Leu286Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Leu55Arg Uncertain significance Single submitter
- SLC26A3 p.Leu57Ser Uncertain significance Single submitter
- SLC26A3 p.Lys409Glu Uncertain significance Single submitter
- SLC26A3 p.Lys40Asn Uncertain significance Single submitter
-
SLC26A3 p.Lys51Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A3 p.Lys51Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A3 p.Lys723Met Uncertain significance Single submitter
- SLC26A3 p.Phe336Leu Uncertain significance Single submitter
- SLC26A3 p.Phe562Val Uncertain significance Single submitter
- SLC26A3 p.Pro101Thr Uncertain significance Single submitter
- SLC26A3 p.Pro129Arg Uncertain significance Single submitter
-
SLC26A3 p.Pro129Leu
Conflicting
Single submitter
congenital secretory chloride diarrhea 1
- SLC26A3 p.Pro131Ser Uncertain significance Single submitter
- SLC26A3 p.Pro240Thr Uncertain significance Single submitter
- SLC26A3 p.Pro65Ala Uncertain significance Single submitter
- SLC26A3 p.Thr517Ala Uncertain significance Single submitter
- SLC26A3 p.Tyr682Cys Uncertain significance Single submitter
- SLC26A3 p.Tyr9His Uncertain significance Single submitter
- SLC26A3 p.Val202Ala Uncertain significance Single submitter
- SLC26A3 p.Val318Ala Uncertain significance Single submitter
- SLC26A3 p.Val421Met Uncertain significance Single submitter
- SLC26A3 p.Val641Asp Uncertain significance Single submitter
-
SLC26A3 p.Val681Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A3 p.Arg68Trp
Uncertain significance
No assertion criteria
congenital secretory chloride diarrhea 1
-
SLC26A3 p.Lys521Asn
Likely pathogenic
No assertion criteria
congenital secretory chloride diarrhea 1
All SLC26A3 variants
Pathogenic 59
- c.1514+1G>A Multiple submitters congenital secretory chloride diarrhea 1
- c.2063-1G>T Multiple submitters congenital secretory chloride diarrhea 1
- c.571-1G>T Multiple submitters congenital secretory chloride diarrhea 1
- c.735+4_735+7del Multiple submitters congenital secretory chloride diarrhea 1
- p.Arg566Ter Multiple submitters congenital secretory chloride diarrhea 1
- p.Arg579Ter Multiple submitters congenital secretory chloride diarrhea 1
- p.Gly187Ter Multiple submitters SLC26A3-related disorder
- p.Gly91fs Multiple submitters SLC26A3-related disorder
- p.Ile383fs Multiple submitters SLC26A3-related disorder
- p.Ile60fs Multiple submitters congenital secretory chloride diarrhea 1
- p.Leu205fs Multiple submitters SLC26A3-related disorder
- p.Tyr305Ter Multiple submitters congenital secretory chloride diarrhea 1
- p.Val318del Multiple submitters congenital secretory chloride diarrhea 1
- c.1514+2T>C Single submitter
- c.1677+1G>A Single submitter
- c.2063-1G>C Single submitter
- p.Ala113fs Single submitter
- p.Arg463Ter Single submitter congenital secretory chloride diarrhea 1
- p.Asn518fs Single submitter
- p.Asp320fs Single submitter
- p.Cys469Ter Single submitter
- p.Gln231fs Single submitter
- p.Gln280_Arg281insHisTyrValGluTer Single submitter
- p.Gln337Ter Single submitter
- p.Gln436Ter Single submitter congenital secretory chloride diarrhea 1
- p.Gln495Ter Single submitter
- p.Gln582Ter Single submitter
- p.Gln8fs Single submitter
- p.Glu23fs Single submitter
- p.Glu334Ter Single submitter intestinal obstruction
- p.Glu457Ter Single submitter
- p.Glu673Ter Single submitter
- p.Glu698Ter Single submitter
- p.Gly341Ter Single submitter
- p.Ile114fs Single submitter
- p.Ile115fs Single submitter congenital secretory chloride diarrhea 1
- p.Ile198fs Single submitter
- p.Ile295_Met296insTer Single submitter
- p.Ile428fs Single submitter
- p.Ile537fs Single submitter congenital secretory chloride diarrhea 1
- p.Ile81fs Single submitter
- p.Leu581fs Single submitter
- p.Lys26Ter Single submitter
- p.Lys40Ter Single submitter
- p.Lys521fs Single submitter
- p.Lys573fs Single submitter
- p.Pro131Arg Single submitter congenital secretory chloride diarrhea 1
- p.Ser356fs Single submitter
- p.Ser669Ter Single submitter Gastrointestinal obstruction
- p.Ser706fs Single submitter
- p.Thr475Ter Single submitter
- p.Trp472fs Single submitter
- p.Tyr104fs Single submitter
- p.Tyr367Ter Single submitter
- p.Val360fs Single submitter
- c.735+708_971+1514del No assertion criteria congenital secretory chloride diarrhea 1
- p.His124Leu No assertion criteria congenital secretory chloride diarrhea 1
- p.Trp462Ter No assertion criteria congenital secretory chloride diarrhea 1
- p.Val560Asp No assertion criteria congenital secretory chloride diarrhea 1
Pathogenic/Likely pathogenic 13
- c.1312-1G>T Multiple submitters congenital secretory chloride diarrhea 1
- c.1515-2del Multiple submitters SLC26A3-related disorder
- c.571-2A>G Multiple submitters congenital secretory chloride diarrhea 1
- p.Ala347Thr Multiple submitters SLC26A3-related disorder ⚠
- p.Asp308_Phe309insTer Multiple submitters congenital secretory chloride diarrhea 1
- p.Asp558fs Multiple submitters congenital secretory chloride diarrhea 1
- p.Gln584Ter Multiple submitters
- p.Gly120Ser Multiple submitters SLC26A3-related disorder
- p.Ile544Asn Multiple submitters congenital secretory chloride diarrhea 1
- p.Ile675dup Multiple submitters SLC26A3-related disorder
- p.Met1fs Multiple submitters congenital secretory chloride diarrhea 1
- p.Pro131Leu Multiple submitters congenital secretory chloride diarrhea 1
- p.Lys49fs No assertion criteria congenital secretory chloride diarrhea 1
Likely pathogenic 56
- p.Gly393Trp Multiple submitters congenital secretory chloride diarrhea 1 ⚠
- c.1120-1G>A Single submitter
- c.1120-2A>G Single submitter congenital secretory chloride diarrhea 1
- c.1234-1G>A Single submitter
- c.1407+6T>C Single submitter SLC26A3-related disorder
- c.1514+1G>T Single submitter congenital secretory chloride diarrhea 1
- c.2007+2T>G Single submitter
- c.2205+1G>T Single submitter congenital secretory chloride diarrhea 1
- c.2206-2A>G Single submitter
- c.271+2T>C Single submitter
- c.382+1G>A Single submitter
- c.383-1G>A Single submitter
- c.570+1G>T Single submitter
- c.736-2del Single submitter
- c.889-2A>G Single submitter
- c.971+3_971+4del Single submitter congenital secretory chloride diarrhea 1
- c.972-1G>A Single submitter
- p.Ala192fs Single submitter congenital secretory chloride diarrhea 1
- p.Ala512fs Single submitter congenital secretory chloride diarrhea 1
- p.Asp701Ter Single submitter congenital secretory chloride diarrhea 1
- p.Gln436Arg Single submitter congenital secretory chloride diarrhea 1
- p.Glu293Lys Single submitter congenital secretory chloride diarrhea 1
- p.Glu374Ter Single submitter congenital secretory chloride diarrhea 1
- p.Gly128Ser Single submitter congenital secretory chloride diarrhea 1 ⚠
- p.Leu470Ter Single submitter congenital secretory chloride diarrhea 1
- p.Met136Val Single submitter congenital secretory chloride diarrhea 1
- p.Phe551fs Single submitter congenital secretory chloride diarrhea 1
- p.Ser224fs Single submitter congenital secretory chloride diarrhea 1
- p.Ser438Pro Single submitter congenital secretory chloride diarrhea 1
- p.Trp472Ter Single submitter SLC26A3-related disorder
- p.Tyr16Ter Single submitter congenital secretory chloride diarrhea 1
- p.Val176fs Single submitter congenital secretory chloride diarrhea 1
- p.Val421fs Single submitter congenital secretory chloride diarrhea 1
- c.1312-1G>A No assertion criteria congenital secretory chloride diarrhea 1
- c.1408-1G>A No assertion criteria congenital secretory chloride diarrhea 1
- c.2205+3A>G No assertion criteria congenital secretory chloride diarrhea 1
- p.Arg175Ser No assertion criteria congenital secretory chloride diarrhea 1
- p.Asp468Val No assertion criteria congenital secretory chloride diarrhea 1
- p.Cys343Tyr No assertion criteria congenital secretory chloride diarrhea 1
- p.Gln454fs No assertion criteria congenital secretory chloride diarrhea 1
- p.Gln454Ter No assertion criteria congenital secretory chloride diarrhea 1
- p.Gly702delinsThrGlyPheGluValLysIleGlnAsnPhe No assertion criteria congenital secretory chloride diarrhea 1
- p.His220Pro No assertion criteria congenital secretory chloride diarrhea 1
- p.Leu448fs No assertion criteria congenital secretory chloride diarrhea 1
- p.Leu496Arg No assertion criteria congenital secretory chloride diarrhea 1
- p.Leu711Ter No assertion criteria congenital secretory chloride diarrhea 1
- p.Lys521Asn No assertion criteria congenital secretory chloride diarrhea 1 ⚠
- p.Met136Ile No assertion criteria congenital secretory chloride diarrhea 1
- p.Phe111fs No assertion criteria congenital secretory chloride diarrhea 1
- p.Phe344_Val349delinsAspAla No assertion criteria congenital secretory chloride diarrhea 1
- p.Pro131fs No assertion criteria congenital secretory chloride diarrhea 1
- p.Pro506fs No assertion criteria congenital secretory chloride diarrhea 1
- p.Ser206Pro No assertion criteria congenital secretory chloride diarrhea 1
- p.Ser509fs No assertion criteria congenital secretory chloride diarrhea 1
- p.Ser542fs No assertion criteria congenital secretory chloride diarrhea 1
- p.Ser663_Val664insTer No assertion criteria congenital secretory chloride diarrhea 1
Conflicting classifications of pathogenicity 18
- c.1234-9T>A Single submitter congenital secretory chloride diarrhea 1
- c.1677+10G>A Single submitter congenital secretory chloride diarrhea 1
- c.271+7T>A Single submitter congenital secretory chloride diarrhea 1
- c.571-9T>C Single submitter congenital secretory chloride diarrhea 1
- c.736-9T>C Single submitter congenital secretory chloride diarrhea 1
- p.Ala178Val Single submitter ⚠
- p.Asp652Asn Single submitter congenital secretory chloride diarrhea 1
- p.Asp688His Single submitter ⚠
- p.Asp715Asn Single submitter ⚠
- p.Asp99Asn Single submitter Inborn genetic diseases ⚠
- p.Cys596Gly Single submitter congenital secretory chloride diarrhea 1 ⚠
- p.His237Gln Single submitter congenital secretory chloride diarrhea 1 ⚠
- p.Ile499Val Single submitter Inborn genetic diseases ⚠
- p.Leu247= Single submitter congenital secretory chloride diarrhea 1
- p.Pro129Leu Single submitter congenital secretory chloride diarrhea 1 ⚠
- p.Ser394Ile Single submitter ⚠
- p.Tyr305= Single submitter congenital secretory chloride diarrhea 1
- p.Tyr520Cys Single submitter congenital secretory chloride diarrhea 1 ⚠
Benign 43
- c.1234-17dup Multiple submitters
- c.132-65A>G Multiple submitters
- c.2007+51A>C Multiple submitters
- c.2062+174A>T Multiple submitters
- c.272-84A>G Multiple submitters
- c.383-32A>G Multiple submitters
- c.383-96C>G Multiple submitters
- c.570+79C>G Multiple submitters
- c.735+37A>T Multiple submitters
- c.972-110A>G Multiple submitters
- c.-88-145G>A Multiple submitters
- p.Ala433= Multiple submitters congenital secretory chloride diarrhea 1
- p.Arg554Gln Multiple submitters congenital secretory chloride diarrhea 1
- p.Cys307Trp Multiple submitters congenital secretory chloride diarrhea 1
- p.Glu698Gln Multiple submitters congenital secretory chloride diarrhea 1
- c.1408-96_1408-84dup Single submitter
- c.1408-96_1408-86dup Single submitter
- c.1408-96_1408-88dup Single submitter
- c.1408-96_1408-91dup Single submitter
- c.1408-96_1408-92dup Single submitter
- c.1677+41dup Single submitter
- c.1678-147A>G Single submitter
- c.2008-6del Single submitter
- c.2062+18dup Single submitter
- c.2063-10_2063-9dup Single submitter
- c.2063-9dup Single submitter
- c.2206-8T>C Single submitter
- c.271+14dup Single submitter
- c.271+235A>G Single submitter
- c.271+272C>T Single submitter
- c.382+177ATTT[6] Single submitter
- c.570+19A>G Single submitter
- c.570+206T>C Single submitter
- c.570+248_570+251del Single submitter
- c.570+80C>A Single submitter
- c.571-255C>A Single submitter
- c.735+218C>T Single submitter
- c.971+176A>C Single submitter
- c.971+199dup Single submitter
- c.971+213del Single submitter
- c.*386G>A Single submitter congenital secretory chloride diarrhea 1
- p.Ala177= Single submitter
- p.Phe119Leu Single submitter
Benign/Likely benign 16
- c.271+14del Multiple submitters
- c.889-6T>C Multiple submitters congenital secretory chloride diarrhea 1
- c.972-14A>C Multiple submitters congenital secretory chloride diarrhea 1
- p.Arg197Gln Multiple submitters congenital secretory chloride diarrhea 1
- p.Arg68Gln Multiple submitters congenital secretory chloride diarrhea 1
- p.Asn753Ser Multiple submitters congenital secretory chloride diarrhea 1
- p.Asp332= Multiple submitters congenital secretory chloride diarrhea 1
- p.Ile601Thr Multiple submitters congenital secretory chloride diarrhea 1
- p.Ile81Val Multiple submitters congenital secretory chloride diarrhea 1
- p.Leu616= Multiple submitters
- p.Leu651= Multiple submitters congenital secretory chloride diarrhea 1
- p.Phe119= Multiple submitters congenital secretory chloride diarrhea 1
- p.Ser126= Multiple submitters congenital secretory chloride diarrhea 1
- p.Ser438= Multiple submitters congenital secretory chloride diarrhea 1
- p.Thr395= Multiple submitters
- p.Thr510Met Multiple submitters congenital secretory chloride diarrhea 1
Likely benign 405
Showing the top 300 by review status; the full set is in the sitemap.
- c.1408-14C>A Multiple submitters
- c.1408-56G>A Multiple submitters
- c.971+145C>T Multiple submitters
- p.Ala179= Multiple submitters
- p.Ile419= Multiple submitters
- p.Ile473= Multiple submitters
- p.Ile557= Multiple submitters
- p.Ile683= Multiple submitters
- p.Leu608= Multiple submitters
- p.Pro235= Multiple submitters
- p.Ser400= Multiple submitters
- p.Ser604= Multiple submitters
- p.Val425Ile Multiple submitters congenital secretory chloride diarrhea 1
- c.1119+11_1119+14del Single submitter
- c.1119+12A>G Single submitter
- c.1119+13del Single submitter
- c.1119+15T>C Single submitter
- c.1119+16A>G Single submitter
- c.1119+19C>T Single submitter
- c.1119+20T>A Single submitter
- c.1119+20T>G Single submitter
- c.1119+9A>G Single submitter
- c.1120-16C>T Single submitter
- c.1120-18T>C Single submitter
- c.1120-19A>G Single submitter
- c.1120-19A>T Single submitter
- c.1120-20C>T Single submitter
- c.1120-6T>C Single submitter
- c.1233+13del Single submitter
- c.1233+17G>C Single submitter
- c.1233+7C>G Single submitter
- c.1233+8A>T Single submitter
- c.1233+9A>T Single submitter
- c.1234-16T>C Single submitter
- c.1234-17T>C Single submitter
- c.1234-22_1234-20del Single submitter
- c.1234-4A>G Single submitter
- c.1234-8C>T Single submitter
- c.131+18G>A Single submitter
- c.131+20A>G Single submitter
- c.131+7T>C Single submitter
- c.131+8A>C Single submitter
- c.1311+10T>C Single submitter
- c.1311+11C>A Single submitter
- c.1311+15G>A Single submitter
- c.1311+20G>A Single submitter
- c.1311+7C>G Single submitter
- c.1312-12T>G Single submitter
- c.1312-14T>C Single submitter
- c.1312-4A>G Single submitter
- c.1312-5C>T Single submitter
- c.132-17G>T Single submitter
- c.132-9T>C Single submitter
- c.1407+11G>A Single submitter
- c.1407+12C>T Single submitter
- c.1407+13_1407+16del Single submitter
- c.1407+15T>C Single submitter
- c.1407+16A>C Single submitter
- c.1407+17G>A Single submitter
- c.1407+18T>C Single submitter
- c.1408-14C>T Single submitter
- c.1408-18G>A Single submitter
- c.1408-20G>A Single submitter
- c.1408-20G>C Single submitter
- c.1408-5C>T Single submitter
- c.1408-6T>C Single submitter
- c.1514+10C>G Single submitter
- c.1514+12A>G Single submitter
- c.1514+12A>T Single submitter
- c.1514+8C>T Single submitter
- c.1514+9_1514+10dup Single submitter
- c.1515-16G>A Single submitter
- c.1515-17T>C Single submitter
- c.1515-18_1515-16del Single submitter
- c.1515-20T>C Single submitter
- c.1515-23_1515-20del Single submitter
- c.1515-7C>T Single submitter
- c.1584+12T>C Single submitter
- c.1584+14A>C Single submitter
- c.1584+9G>A Single submitter
- c.1585-13C>A Single submitter
- c.1585-15T>C Single submitter
- c.1585-16C>G Single submitter
- c.1585-5T>A Single submitter
- c.1585-7C>T Single submitter
- c.1585-8C>A Single submitter
- c.1585-8C>T Single submitter
- c.1585-9G>A Single submitter
- c.1677+13G>A Single submitter
- c.1677+13G>C Single submitter
- c.1677+16A>T Single submitter
- c.1677+17_1677+20del Single submitter
- c.1677+18T>G Single submitter
- c.1677+20A>C Single submitter
- c.1677+20A>T Single submitter
- c.1677+8T>G Single submitter
- c.1678-12T>C Single submitter
- c.1678-17A>T Single submitter
- c.1678-18C>T Single submitter
- c.1678-5C>T Single submitter
- c.1678-6T>C Single submitter
- c.1773+10T>C Single submitter
- c.1773+11T>C Single submitter
- c.1773+11T>G Single submitter
- c.1773+17del Single submitter
- c.1774-10T>C Single submitter
- c.1774-11C>T Single submitter
- c.1774-12C>G Single submitter
- c.1774-12C>T Single submitter
- c.1774-13T>A Single submitter
- c.1774-16T>C Single submitter
- c.1774-19T>C Single submitter
- c.1774-215T>C Single submitter
- c.1774-4G>A Single submitter
- c.1774-9C>T Single submitter
- c.2007+180C>T Single submitter
- c.2007+183C>T Single submitter
- c.2007+8C>T Single submitter
- c.2007+9T>C Single submitter
- c.2008-16C>A Single submitter
- c.2008-16C>T Single submitter
- c.2008-17A>G Single submitter
- c.2008-18T>C Single submitter
- c.2008-19del Single submitter
- c.2008-20T>C Single submitter
- c.2008-9T>G Single submitter
- c.2062+12T>C Single submitter
- c.2062+13_2062+16del Single submitter
- c.2062+19_2062+23del Single submitter
- c.2062+8G>A Single submitter
- c.2063-10T>C Single submitter
- c.2063-10T>G Single submitter
- c.2063-15T>C Single submitter
- c.2063-17T>C Single submitter
- c.2063-18_2063-17del Single submitter
- c.2063-21T>G Single submitter
- c.2063-4T>C Single submitter
- c.2063-5T>C Single submitter
- c.2063-9T>C Single submitter
- c.2205+10C>T Single submitter
- c.2205+11T>C Single submitter
- c.2205+12T>C Single submitter
- c.2205+13T>C Single submitter
- c.2206-11C>G Single submitter
- c.2206-15T>C Single submitter
- c.2206-20T>C Single submitter
- c.2206-9T>C Single submitter
- c.2271+13A>C Single submitter
- c.2271+14A>G Single submitter
- c.2271+17G>A Single submitter
- c.2271+17G>C Single submitter
- c.2271+19T>C Single submitter
- c.2272-12_2272-9del Single submitter
- c.2272-14_2272-13del Single submitter
- c.2272-19A>G Single submitter
- c.2272-3del Single submitter
- c.2272-4C>T Single submitter
- c.2272-6T>C Single submitter
- c.271+11T>C Single submitter
- c.271+14T>A Single submitter
- c.271+14T>C Single submitter
- c.271+17G>A Single submitter
- c.271+18T>C Single submitter
- c.271+19A>G Single submitter
- c.271+20T>C Single submitter
- c.272-10G>A Single submitter
- c.272-11T>C Single submitter
- c.272-12G>T Single submitter
- c.272-15C>T Single submitter
- c.272-16G>A Single submitter
- c.272-18C>T Single submitter
- c.382+14T>C Single submitter
- c.382+16A>G Single submitter
- c.382+16A>T Single submitter
- c.383-12A>G Single submitter
- c.383-16A>G Single submitter
- c.383-17C>T Single submitter
- c.383-19T>C Single submitter
- c.383-9G>A Single submitter
- c.570+10_570+11insCC Single submitter
- c.570+10T>C Single submitter
- c.570+14del Single submitter
- c.570+16T>A Single submitter
- c.570+17G>A Single submitter
- c.571-19G>T Single submitter
- c.571-20G>A Single submitter
- c.571-20G>T Single submitter
- c.571-7T>A Single submitter
- c.571-8C>T Single submitter
- c.735+11C>G Single submitter
- c.735+12T>C Single submitter
- c.735+17C>T Single submitter
- c.735+18C>G Single submitter
- c.735+18C>T Single submitter
- c.736-10A>G Single submitter
- c.736-12T>C Single submitter
- c.736-18T>C Single submitter
- c.736-8A>G Single submitter
- c.888+16C>G Single submitter
- c.888+17A>G Single submitter
- c.888+7G>C Single submitter
- c.889-10A>G Single submitter
- c.889-11C>A Single submitter
- c.889-16A>C Single submitter
- c.889-20G>A Single submitter
- c.889-20G>C Single submitter
- c.971+10T>C Single submitter
- c.971+13T>G Single submitter
- c.971+14C>T Single submitter
- c.971+15G>A Single submitter
- c.971+17T>C Single submitter
- c.971+18del Single submitter
- c.971+199_971+200dup Single submitter
- c.971+19A>G Single submitter
- c.971+20T>C Single submitter
- c.971+7G>A Single submitter
- c.972-10dup Single submitter
- c.972-19T>G Single submitter
- c.-88-205A>G Single submitter
- c.*113T>C Single submitter congenital secretory chloride diarrhea 1
- p.Ala108= Single submitter
- p.Ala177Val Single submitter
- p.Ala178= Single submitter
- p.Ala301= Single submitter
- p.Ala316= Single submitter
- p.Ala358= Single submitter
- p.Ala377= Single submitter
- p.Ala392= Single submitter
- p.Ala396= Single submitter
- p.Ala427= Single submitter
- p.Ala442= Single submitter
- p.Ala444= Single submitter
- p.Ala61= Single submitter
- p.Ala66= Single submitter
- p.Ala87= Single submitter
- p.Ala93= Single submitter
- p.Arg173= Single submitter
- p.Arg197= Single submitter
- p.Arg312= Single submitter
- p.Arg389= Single submitter
- p.Arg553= Single submitter
- p.Arg566= Single submitter
- p.Arg579= Single submitter
- p.Asn153Ser Single submitter Inborn genetic diseases
- p.Asn162Ser Single submitter Inborn genetic diseases
- p.Asn322= Single submitter
- p.Asn522= Single submitter
- p.Asn572= Single submitter
- p.Asn632= Single submitter
- p.Asn638= Single submitter
- p.Asp171= Single submitter
- p.Asp239= Single submitter
- p.Asp342= Single submitter
- p.Asp370= Single submitter
- p.Asp599= Single submitter
- p.Asp605= Single submitter
- p.Asp624= Single submitter
- p.Asp633= Single submitter
- p.Asp634= Single submitter
- p.Asp715= Single submitter
- p.Asp725= Single submitter
- p.Cys385= Single submitter
- p.Cys45= Single submitter
- p.Gln326= Single submitter
- p.Gln48= Single submitter
- p.Glu531= Single submitter
- p.Glu606Lys Single submitter
- p.Glu640= Single submitter
- p.Glu673= Single submitter
- p.Glu692= Single submitter
- p.Gly105= Single submitter
- p.Gly138= Single submitter
- p.Gly199= Single submitter
- p.Gly212= Single submitter
- p.Gly319= Single submitter
- p.Gly371= Single submitter
- p.Gly390= Single submitter
- p.Gly429= Single submitter
- p.Gly485= Single submitter
- p.Gly561= Single submitter
- p.His220= Single submitter
- p.His31= Single submitter
- p.His38= Single submitter
- p.Ile115= Single submitter
- p.Ile195Val Single submitter Inborn genetic diseases
- p.Ile292= Single submitter
- p.Ile299= Single submitter
- p.Ile346= Single submitter
- p.Ile420= Single submitter
- p.Ile480= Single submitter
- p.Ile514= Single submitter
- p.Leu133= Single submitter
- p.Leu139= Single submitter
- p.Leu159= Single submitter
- p.Leu185= Single submitter
- p.Leu205= Single submitter
- p.Leu222= Single submitter
- p.Leu266= Single submitter
- p.Leu380= Single submitter
- p.Leu426= Single submitter
Uncertain significance 248
- p.Ala144Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala144Val Multiple submitters congenital secretory chloride diarrhea 1 ⚠
- p.Ala177Thr Multiple submitters congenital secretory chloride diarrhea 1 ⚠
- p.Ala20Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala93Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg152Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg152His Multiple submitters congenital secretory chloride diarrhea 1 ⚠
- p.Arg281His Multiple submitters congenital secretory chloride diarrhea 1 ⚠
- p.Arg463Gln Multiple submitters congenital secretory chloride diarrhea 1 ⚠
- p.Arg554Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg576Ser Multiple submitters Inborn genetic diseases
- p.Asn153Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asp320Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp558Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp687Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln582Glu Multiple submitters congenital secretory chloride diarrhea 1 ⚠
- p.Gly306Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly379Ala Multiple submitters congenital secretory chloride diarrhea 1 ⚠
- p.Gly485Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly550Ala Multiple submitters Inborn genetic diseases ⚠
- p.Ile10Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile292Val Multiple submitters congenital secretory chloride diarrhea 1 ⚠
- p.Ile480Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile514Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile613Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu568Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys283Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys314Gln Multiple submitters Inborn genetic diseases ⚠
- p.Lys49Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys730Asn Multiple submitters Inborn genetic diseases ⚠
- p.Met135Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met296Thr Multiple submitters Inborn genetic diseases ⚠
- p.Phe674Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Pro101Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro289Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro323Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro541Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser252Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser398Phe Multiple submitters ⚠
- p.Ser46Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ser56Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser707Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr155Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr183Ile Multiple submitters congenital secretory chloride diarrhea 1 ⚠
- p.Thr622Ile Multiple submitters congenital secretory chloride diarrhea 1 ⚠
- p.Thr744Ile Multiple submitters Inborn genetic diseases ⚠
- p.Tyr104Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr527Asp Multiple submitters Inborn genetic diseases ⚠
- p.Val182Phe Multiple submitters Inborn genetic diseases ⚠
- p.Val275Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val298Met Multiple submitters Inborn genetic diseases ⚠
- p.Val439Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val684Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val684Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val704Met Multiple submitters Inborn genetic diseases ⚠
- c.1119+5G>C Single submitter
- c.1514+6T>C Single submitter
- c.1584+6G>A Single submitter
- c.1678-13A>G Single submitter
- c.2007+5T>C Single submitter
- c.2063-4_2063-3delinsAA Single submitter
- c.570+3G>A Single submitter
- c.570+8C>T Single submitter congenital secretory chloride diarrhea 1
- c.888+5T>C Single submitter congenital secretory chloride diarrhea 1
- c.971+3_971+6del Single submitter
- c.971+5G>C Single submitter
- c.-169C>T Single submitter congenital secretory chloride diarrhea 1
- c.-40C>T Single submitter congenital secretory chloride diarrhea 1
- c.-88-9T>G Single submitter congenital secretory chloride diarrhea 1
- c.-89+12A>G Single submitter congenital secretory chloride diarrhea 1
- c.-90A>G Single submitter congenital secretory chloride diarrhea 1
- c.*130C>T Single submitter congenital secretory chloride diarrhea 1
- c.*196T>C Single submitter congenital secretory chloride diarrhea 1
- c.*205G>C Single submitter congenital secretory chloride diarrhea 1
- c.*227A>G Single submitter congenital secretory chloride diarrhea 1
- p.Ala144Glu Single submitter Inborn genetic diseases ⚠
- p.Ala179Val Single submitter
- p.Ala20Thr Single submitter congenital secretory chloride diarrhea 1 ⚠
- p.Ala216Val Single submitter ⚠
- p.Ala218Val Single submitter ⚠
- p.Ala300Thr Single submitter ⚠
- p.Ala347Ser Single submitter congenital secretory chloride diarrhea 1 ⚠
- p.Ala433Val Single submitter Inborn genetic diseases ⚠
- p.Ala559Pro Single submitter congenital secretory chloride diarrhea 1 ⚠
- p.Ala559Val Single submitter ⚠
- p.Ala574Thr Single submitter ⚠
- p.Ala574Val Single submitter Inborn genetic diseases ⚠
- p.Ala655Val Single submitter ⚠
- p.Ala66Ser Single submitter ⚠
- p.Arg13Ser Single submitter ⚠
- p.Arg281Cys Single submitter Inborn genetic diseases ⚠
- p.Arg312Gly Single submitter
- p.Arg566Gln Single submitter ⚠
- p.Arg569His Single submitter Inborn genetic diseases ⚠
- p.Arg571Cys Single submitter ⚠
- p.Arg571His Single submitter ⚠
- p.Arg571Ser Single submitter ⚠
- p.Arg579Gln Single submitter ⚠
- p.Arg68= Single submitter
- p.Arg752Cys Single submitter ⚠
- p.Arg752His Single submitter ⚠
- p.Arg754Trp Single submitter ⚠
- p.Asn610Asp Single submitter ⚠
- p.Asn611Ser Single submitter ⚠
- p.Asp170Glu Single submitter congenital secretory chloride diarrhea 1 ⚠
- p.Asp171Glu Single submitter ⚠
- p.Asp332Glu Single submitter ⚠
- p.Asp332Gly Single submitter ⚠
- p.Asp366Asn Single submitter ⚠
- p.Asp468Asn Single submitter congenital secretory chloride diarrhea 1 ⚠
- p.Asp528His Single submitter Inborn genetic diseases ⚠
- p.Asp558Ala Single submitter ⚠
- p.Asp617Asn Single submitter Inborn genetic diseases ⚠
- p.Asp652Tyr Single submitter
- p.Asp680Glu Single submitter ⚠
- p.Asp738fs Single submitter
- p.Asp99Ala Single submitter ⚠
- p.Cys343Arg Single submitter ⚠
- p.Cys43Tyr Single submitter ⚠
- p.Cys540Phe Single submitter
- p.Cys596Arg Single submitter ⚠
- p.Gln231Pro Single submitter ⚠
- p.Gln411Leu Single submitter congenital secretory chloride diarrhea 1 ⚠
- p.Gln48Glu Single submitter ⚠
- p.Gln504Pro Single submitter congenital secretory chloride diarrhea 1 ⚠
- p.Gln612His Single submitter ⚠
- p.Gln8Glu Single submitter Inborn genetic diseases ⚠
- p.Gln90= Single submitter
- p.Glu207Lys Single submitter ⚠
- p.Glu374Gln Single submitter congenital secretory chloride diarrhea 1 ⚠
- p.Glu607Asp Single submitter ⚠
- p.Glu607Gln Single submitter Inborn genetic diseases ⚠
- p.Glu703Lys Single submitter Inborn genetic diseases ⚠
- p.Gly105Ala Single submitter ⚠
- p.Gly143Arg Single submitter ⚠
- p.Gly212Ser Single submitter ⚠
- p.Gly324Val Single submitter ⚠
- p.Gly341Arg Single submitter
- p.Gly390Arg Single submitter ⚠
- p.Gly407Glu Single submitter Inborn genetic diseases ⚠
- p.Gly485Arg Single submitter Inborn genetic diseases ⚠
- p.Gly561Cys Single submitter Inborn genetic diseases ⚠
- p.Gly585= Single submitter
- p.Gly585Asp Single submitter Inborn genetic diseases ⚠
- p.Gly585Ser Single submitter Inborn genetic diseases ⚠
- p.Gly750Arg Single submitter ⚠
- p.His124Asn Single submitter Inborn genetic diseases ⚠
- p.His719Tyr Single submitter congenital secretory chloride diarrhea 1 ⚠
- p.Ile100Val Single submitter Inborn genetic diseases ⚠
- p.Ile229Phe Single submitter
- p.Ile274Val Single submitter ⚠
- p.Ile329Val Single submitter ⚠
- p.Ile416Val Single submitter ⚠
- p.Ile420Val Single submitter Inborn genetic diseases ⚠
- p.Ile458Val Single submitter ⚠
- p.Ile53Phe Single submitter ⚠
- p.Ile549Asn Single submitter Inborn genetic diseases ⚠
- p.Ile549Val Single submitter ⚠
- p.Ile557Thr Single submitter ⚠
- p.Ile60Arg Single submitter ⚠
- p.Ile620Val Single submitter ⚠
- p.Ile629Leu Single submitter ⚠
- p.Ile629Thr Single submitter ⚠
- p.Ile639Asn Single submitter congenital secretory chloride diarrhea 1 ⚠
- p.Ile675Phe Single submitter ⚠
- p.Ile691Phe Single submitter Inborn genetic diseases ⚠
- p.Ile713Val Single submitter Inborn genetic diseases ⚠
- p.Ile741Thr Single submitter ⚠
- p.Ile745Val Single submitter ⚠
- p.Ile85Thr Single submitter ⚠
- p.Leu117Ile Single submitter Inborn genetic diseases ⚠
- p.Leu226Phe Single submitter Inborn genetic diseases ⚠
- p.Leu286Phe Single submitter Inborn genetic diseases ⚠
- p.Leu397Arg Single submitter SLC26A3-related disorder ⚠
- p.Leu461Ser Single submitter ⚠
- p.Leu55Arg Single submitter ⚠
- p.Leu57Ser Single submitter ⚠
- p.Leu671Phe Single submitter congenital secretory chloride diarrhea 1 ⚠
- p.Lys26Glu Single submitter Inborn genetic diseases ⚠
- p.Lys26Thr Single submitter ⚠
- p.Lys33Arg Single submitter ⚠
- p.Lys409Glu Single submitter ⚠
- p.Lys40Asn Single submitter ⚠
- p.Lys507Asn Single submitter Inborn genetic diseases ⚠
- p.Lys51Arg Single submitter Inborn genetic diseases ⚠
- p.Lys51Glu Single submitter Inborn genetic diseases ⚠
- p.Lys723Asn Single submitter ⚠
- p.Lys723Met Single submitter ⚠
- p.Met296Ile Single submitter
- p.Met296Val Single submitter ⚠
- p.Met474Arg Single submitter congenital secretory chloride diarrhea 1 ⚠
- p.Met474Ile Single submitter ⚠
- p.Phe336Leu Single submitter ⚠
- p.Phe494= Single submitter congenital secretory chloride diarrhea 1
- p.Phe494Leu Single submitter Inborn genetic diseases ⚠
- p.Phe562Val Single submitter ⚠
- p.Phe700Ser Single submitter ⚠
- p.Phe709Ile Single submitter Inborn genetic diseases ⚠
- p.Pro101Thr Single submitter ⚠
- p.Pro102Ser Single submitter ⚠
- p.Pro129Arg Single submitter ⚠
- p.Pro131Ser Single submitter ⚠
- p.Pro240Thr Single submitter ⚠
- p.Pro532Ser Single submitter Inborn genetic diseases
- p.Pro65Ala Single submitter ⚠
- p.Pro733Leu Single submitter Inborn genetic diseases ⚠
- p.Pro759Leu Single submitter ⚠
- p.Pro759Ser Single submitter ⚠
- p.Ser186Thr Single submitter Inborn genetic diseases ⚠
- p.Ser208Tyr Single submitter congenital secretory chloride diarrhea 1 ⚠
- p.Ser46Phe Single submitter Inborn genetic diseases ⚠
- p.Ser669Leu Single submitter ⚠
- p.Ser706Asn Single submitter ⚠
- p.Thr238Ile Single submitter Inborn genetic diseases ⚠
- p.Thr297= Single submitter
- p.Thr517Ala Single submitter ⚠
- p.Trp462Arg Single submitter ⚠
- p.Trp472Leu Single submitter Inborn genetic diseases ⚠
- p.Tyr204Asp Single submitter congenital secretory chloride diarrhea 1 ⚠
- p.Tyr305Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr361Cys Single submitter congenital secretory chloride diarrhea 1 ⚠
- p.Tyr527del Single submitter congenital secretory chloride diarrhea 1
- p.Tyr682Cys Single submitter ⚠
- p.Tyr726Asn Single submitter ⚠
- p.Tyr9His Single submitter ⚠
- p.Val149Asp Single submitter Inborn genetic diseases ⚠
- p.Val176Glu Single submitter Inborn genetic diseases
- p.Val201Leu Single submitter ⚠
- p.Val202Ala Single submitter ⚠
- p.Val246= Single submitter congenital secretory chloride diarrhea 1
- p.Val272Leu Single submitter
- p.Val318Ala Single submitter ⚠
- p.Val333Ala Single submitter ⚠
- p.Val333Met Single submitter ⚠
- p.Val340Ile Single submitter ⚠
- p.Val360Ile Single submitter ⚠
- p.Val421Met Single submitter ⚠
- p.Val500Met Single submitter
- p.Val535Ala Single submitter Inborn genetic diseases ⚠
- p.Val598Asp Single submitter ⚠
- p.Val615Ile Single submitter congenital secretory chloride diarrhea 1 ⚠
- p.Val641Asp Single submitter ⚠
- p.Val681Met Single submitter Inborn genetic diseases ⚠
- p.Val684Leu Single submitter ⚠
- p.Val755Ile Single submitter Inborn genetic diseases ⚠
- p.Val760Gly Single submitter ⚠
- p.Val88Ile Single submitter Inborn genetic diseases ⚠
- p.Arg68Trp No assertion criteria congenital secretory chloride diarrhea 1 ⚠