CLCNKB — 564 ClinVar variants
All ClinVar germline CLCNKB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 185 flagged for review →
27 Pathogenic · 9 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 17 Conflicting · 128 Benign · 8 Benign/Likely benign · 166 Likely benign · 185 Uncertain significance
Full CLCNKB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 185
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.
Predictors agree, ClinVar conflicts 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CLCNKB p.Arg595Gln
Conflicting
Single submitter
Inborn genetic diseases
-
CLCNKB p.Gln385Arg
Conflicting
Single submitter
Inborn genetic diseases
-
CLCNKB p.Glu3Asp
Conflicting
Single submitter
Inborn genetic diseases
-
CLCNKB p.Gly541Ser
Conflicting
Single submitter
Inborn genetic diseases
- CLCNKB p.Trp38Arg Conflicting Single submitter
-
CLCNKB p.Val149Glu
Conflicting
Single submitter
Bartter disease type 3
-
CLCNKB p.Val491Leu
Conflicting
Single submitter
Bartter disease type 3
-
CLCNKB p.Val58Leu
Conflicting
Single submitter
Inborn genetic diseases
-
CLCNKB p.Val668Leu
Conflicting
Single submitter
Bartter disease type 4B
Predictors lean, ClinVar uncertain 89
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CLCNKB p.Ala177Ser
Uncertain significance
Multiple submitters
Bartter disease type 3
-
CLCNKB p.Ala488Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CLCNKB p.Ala70Asp
Uncertain significance
Multiple submitters
Bartter disease type 3
-
CLCNKB p.Ala77Val
Uncertain significance
Multiple submitters
Bartter disease type 4B
-
CLCNKB p.Arg30Gln
Uncertain significance
Multiple submitters
Bartter disease type 3
-
CLCNKB p.Arg33Gln
Uncertain significance
Multiple submitters
Bartter disease type 3
-
CLCNKB p.Arg544Cys
Uncertain significance
Multiple submitters
Bartter disease type 4B
-
CLCNKB p.Glu583Asp
Uncertain significance
Multiple submitters
Bartter disease type 3
-
CLCNKB p.Gly345Ser
Uncertain significance
Multiple submitters
Bartter disease type 3
-
CLCNKB p.Ile525Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CLCNKB p.Leu43Val
Uncertain significance
Multiple submitters
Bartter disease type 3
-
CLCNKB p.Phe44Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CLCNKB p.Ser113Thr
Uncertain significance
Multiple submitters
Bartter disease type 3
-
CLCNKB p.Thr371Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CLCNKB p.Val453Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CLCNKB p.Ala344Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Ala368Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.Ala77Glu Uncertain significance Single submitter
- CLCNKB p.Arg184Leu Uncertain significance Single submitter
-
CLCNKB p.Arg27Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Arg29Leu
Uncertain significance
Single submitter
Bartter disease type 3
-
CLCNKB p.Arg346His
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.Arg45His Uncertain significance Single submitter
- CLCNKB p.Arg661Gln Uncertain significance Single submitter
-
CLCNKB p.Arg661Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Arg8His
Uncertain significance
Single submitter
Bartter disease type 4B
-
CLCNKB p.Arg8Ser
Uncertain significance
Single submitter
Bartter disease type 3
-
CLCNKB p.Asn198Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Asn646Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.Gln616Leu Uncertain significance Single submitter
-
CLCNKB p.Gln79Arg
Uncertain significance
Single submitter
Bartter disease type 3
-
CLCNKB p.Glu37Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Glu649Lys
Uncertain significance
Single submitter
Bartter disease type 3
- CLCNKB p.Glu84Gln Uncertain significance Single submitter
-
CLCNKB p.Glu9Lys
Uncertain significance
Single submitter
Bartter disease type 3
-
CLCNKB p.Gly189Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.Gly219Cys Uncertain significance Single submitter
- CLCNKB p.Gly34Asp Uncertain significance Single submitter
- CLCNKB p.Gly465Arg Uncertain significance Single submitter
-
CLCNKB p.His171Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.His386Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.His553Asn Uncertain significance Single submitter
-
CLCNKB p.Ile310Val
Uncertain significance
Single submitter
Bartter disease type 3
- CLCNKB p.Ile436Phe Uncertain significance Single submitter
-
CLCNKB p.Ile495Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.Ile495Met Uncertain significance Single submitter
- CLCNKB p.Ile589Thr Uncertain significance Single submitter
- CLCNKB p.Leu155Pro Uncertain significance Single submitter
-
CLCNKB p.Leu155Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Leu647Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.Met176Ile Uncertain significance Single submitter
-
CLCNKB p.Met176Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Met176Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.Met370Lys Uncertain significance Single submitter
- CLCNKB p.Met54Val Uncertain significance Single submitter
-
CLCNKB p.Met673Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.Phe144Ser Uncertain significance Single submitter
- CLCNKB p.Phe307Ile Uncertain significance Single submitter
-
CLCNKB p.Phe648Leu
Uncertain significance
Single submitter
Bartter disease type 4B
- CLCNKB p.Pro124Arg Uncertain significance Single submitter
-
CLCNKB p.Pro216Ala
Uncertain significance
Single submitter
Bartter disease type 3
- CLCNKB p.Pro341Ser Uncertain significance Single submitter
-
CLCNKB p.Pro460Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Pro500Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.Ser107Phe Uncertain significance Single submitter
-
CLCNKB p.Ser121Phe
Uncertain significance
Single submitter
Bartter disease type 3
-
CLCNKB p.Ser218Arg
Uncertain significance
Single submitter
Bartter disease type 3
- CLCNKB p.Ser258Arg Uncertain significance Single submitter
- CLCNKB p.Ser297Arg Uncertain significance Single submitter
-
CLCNKB p.Ser343Arg
Uncertain significance
Single submitter
Bartter disease type 3
-
CLCNKB p.Ser360Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Ser360Pro
Uncertain significance
Single submitter
Bartter disease type 3
-
CLCNKB p.Ser374Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Thr185Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.Thr244Ile Uncertain significance Single submitter
- CLCNKB p.Thr269Ile Uncertain significance Single submitter
-
CLCNKB p.Thr523Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.Thr556Ile Uncertain significance Single submitter
-
CLCNKB p.Thr628Ile
Uncertain significance
Single submitter
Bartter disease type 3
-
CLCNKB p.Thr97Ile
Uncertain significance
Single submitter
Bartter disease type 3
- CLCNKB p.Trp391Arg Uncertain significance Single submitter
- CLCNKB p.Tyr432Phe Uncertain significance Single submitter
- CLCNKB p.Val491Met Uncertain significance Single submitter
-
CLCNKB p.Val496Ala
Uncertain significance
Single submitter
Bartter disease type 3
- CLCNKB p.Val545Leu Uncertain significance Single submitter
-
CLCNKB p.Val568Ile
Uncertain significance
Single submitter
Bartter disease type 3
- CLCNKB p.Ala559Thr Uncertain significance No assertion criteria
- CLCNKB p.Gly289Arg Uncertain significance No assertion criteria
- CLCNKB p.Pro24Leu Uncertain significance No assertion criteria
Predictors split 86
The independent predictors disagree with each other — read with care.
-
CLCNKB p.Ala131Val
Likely benign
Multiple submitters
Bartter disease type 4B
-
CLCNKB p.Ala178Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CLCNKB p.Ala298Thr
Uncertain significance
Multiple submitters
Bartter disease type 3
-
CLCNKB p.Arg27Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CLCNKB p.Arg27Leu
Benign
Multiple submitters
Bartter disease type 3
-
CLCNKB p.Arg29His
Uncertain significance
Multiple submitters
Bartter disease type 3
- CLCNKB p.Arg395Trp Benign Multiple submitters
-
CLCNKB p.Arg45Cys
Uncertain significance
Multiple submitters
Bartter disease type 3
-
CLCNKB p.Asp363Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CLCNKB p.Cys617Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CLCNKB p.Gly493Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CLCNKB p.Gly625Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CLCNKB p.Leu94Ile Likely benign Multiple submitters
-
CLCNKB p.Pro530Ser
Uncertain significance
Multiple submitters
Bartter disease type 3
- CLCNKB p.Pro627Thr Uncertain significance Multiple submitters
- CLCNKB p.Ser88Arg Benign Multiple submitters
- CLCNKB p.Thr481Ser Benign/Likely benign Multiple submitters
-
CLCNKB p.Thr659Met
Uncertain significance
Multiple submitters
Bartter disease type 3
-
CLCNKB p.Val104Ile
Benign/Likely benign
Multiple submitters
Bartter disease type 3
-
CLCNKB p.Val170Met
Pathogenic/Likely pathogenic
Multiple submitters
Bartter disease type 3
-
CLCNKB p.Val501Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CLCNKB p.Ala206Ser
Uncertain significance
Single submitter
Bartter disease type 4B
-
CLCNKB p.Ala242Val
Uncertain significance
Single submitter
Bartter disease type 3
-
CLCNKB p.Ala287Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.Ala321Asp Uncertain significance Single submitter
-
CLCNKB p.Ala469Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Ala469Thr
Conflicting
Single submitter
Inborn genetic diseases
-
CLCNKB p.Ala477Thr
Conflicting
Single submitter
Inborn genetic diseases
- CLCNKB p.Arg182Cys Uncertain significance Single submitter
-
CLCNKB p.Arg182Pro
Uncertain significance
Single submitter
Bartter disease type 3
-
CLCNKB p.Arg251Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Arg272Gln
Uncertain significance
Single submitter
Bartter disease type 3
-
CLCNKB p.Arg272Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Arg29Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Arg346Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.Arg351Pro Uncertain significance Single submitter
- CLCNKB p.Arg395Leu Uncertain significance Single submitter
-
CLCNKB p.Asn143Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Asn313Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Asp137Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Asp274Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.Asp278Asn Uncertain significance Single submitter
-
CLCNKB p.Asp363His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Asp383Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Cys302Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Gln372Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.Glu199Lys Uncertain significance Single submitter
-
CLCNKB p.Glu48Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Gly10Val
Uncertain significance
Single submitter
Bartter disease type 3
-
CLCNKB p.His497Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.His78Tyr Uncertain significance Single submitter
-
CLCNKB p.Ile263Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Ile414Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Leu155Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Leu201Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Leu53Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Leu603Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Leu641Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Leu656His
Uncertain significance
Single submitter
Bartter disease type 3
-
CLCNKB p.Leu7Pro
Uncertain significance
Single submitter
Bartter disease type 3
-
CLCNKB p.Met412Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Met60Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Phe217Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Phe315Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.Phe489Val Uncertain significance Single submitter
-
CLCNKB p.Phe519Tyr
Uncertain significance
Single submitter
Bartter disease type 3
-
CLCNKB p.Phe648Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Pro15Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Pro26Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Pro449Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.Pro683Leu Uncertain significance Single submitter
-
CLCNKB p.Ser11Phe
Uncertain significance
Single submitter
Bartter disease type 3
-
CLCNKB p.Ser343Asn
Uncertain significance
Single submitter
Bartter disease type 3
- CLCNKB p.Ser518Ala Uncertain significance Single submitter
-
CLCNKB p.Ser640Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.Thr269Ser Uncertain significance Single submitter
-
CLCNKB p.Thr417Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.Thr659Arg Uncertain significance Single submitter
- CLCNKB p.Val126Ala Uncertain significance Single submitter
-
CLCNKB p.Val148Met
Uncertain significance
Single submitter
Inborn genetic diseases
- CLCNKB p.Val275Ala Uncertain significance Single submitter
-
CLCNKB p.Val526Ala
Uncertain significance
Single submitter
Bartter disease type 3
-
CLCNKB p.Val567Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLCNKB p.Val63Ile
Uncertain significance
Single submitter
Bartter disease type 3
- CLCNKB p.Gly464Ala Uncertain significance No assertion criteria
-
CLCNKB p.Tyr432His
Pathogenic
No assertion criteria
Bartter disease type 3
All CLCNKB variants
Pathogenic 27
- p.Arg438His Multiple submitters Bartter syndrome
- p.Arg595Ter Multiple submitters Bartter disease type 3
- p.Arg76Ter Multiple submitters Bartter disease type 3
- p.Cys25fs Multiple submitters Bartter disease type 3
- p.Glu225Ter Multiple submitters Bartter disease type 3
- p.Leu7fs Multiple submitters Bartter disease type 3
- p.Trp391Ter Multiple submitters
- p.Trp610Ter Multiple submitters Bartter disease type 4B
- p.Tyr236Ter Multiple submitters Bartter disease type 3
- p.Tyr466fs Multiple submitters Bartter disease type 3
- p.Val207fs Multiple submitters Bartter disease type 3
- c.498+1G>C Single submitter
- c.498+2T>G Single submitter
- c.867-2del Single submitter
- c.(?_-1 Single submitter Bartter disease type 3
- p.Ala508fs Single submitter
- p.Cys245Ter Single submitter
- p.Gln356Ter Single submitter Bartter syndrome
- p.His480fs Single submitter
- p.His645fs Single submitter
- p.Ile282fs Single submitter
- p.Phe396fs Single submitter
- p.Ser229fs Single submitter
- p.Thr211fs Single submitter
- p.Trp389Ter Single submitter
- p.Val183fs Single submitter
- p.Tyr432His No assertion criteria Bartter disease type 3 ⚠
Pathogenic/Likely pathogenic 9
- c.968+1G>A Multiple submitters Bartter disease type 4B
- p.Ala77Pro Multiple submitters Bartter syndrome
- p.Arg304Ter Multiple submitters Bartter disease type 3
- p.Arg314delinsLysTer Multiple submitters Hematuria
- p.Asn14fs Multiple submitters Bartter disease type 4B
- p.Glu125_Val126insTer Multiple submitters
- p.Gly437Arg Multiple submitters Bartter disease type 3
- p.Gly493fs Multiple submitters Bartter disease type 3
- p.Val170Met Multiple submitters Bartter disease type 3 ⚠
Likely pathogenic 24
- c.656-140CCCTC[3] Multiple submitters Bartter disease type 3
- p.Gly424Arg Multiple submitters Bartter disease type 3
- c.1053+2T>A Single submitter Bartter disease type 3
- c.1227+1G>A Single submitter
- c.1757-74_1872delinsGT Single submitter
- c.1845+1G>C Single submitter
- c.1846-1G>A Single submitter Bartter disease type 3
- c.1929+1G>A Single submitter
- c.1930-1G>A Single submitter
- c.869del Single submitter Bartter disease type 3
- p.Ala254Val Single submitter ⚠
- p.Ala467Val Single submitter Bartter disease type 3
- p.Cys302fs Single submitter Bartter disease type 3
- p.Glu261Ter Single submitter Bartter disease type 3
- p.Gly120Val Single submitter
- p.Gly164Trp Single submitter Bartter syndrome
- p.Gly167Cys Single submitter Bartter disease type 3
- p.Gly246Arg Single submitter
- p.Gly470Arg Single submitter Bartter disease type 3
- p.Leu406Pro Single submitter Bartter disease type 3
- p.Met412fs Single submitter Bartter disease type 3
- p.Phe285del Single submitter Bartter disease type 3
- p.Ser343fs Single submitter Bartter disease type 3
- p.Trp388Ter Single submitter
Conflicting classifications of pathogenicity 17
- c.1297+5G>T Single submitter
- c.577-6C>T Single submitter
- c.656-9C>T Single submitter
- p.Ala469Thr Single submitter Inborn genetic diseases ⚠
- p.Ala477Thr Single submitter Inborn genetic diseases ⚠
- p.Ala504= Single submitter Bartter disease type 3
- p.Arg595Gln Single submitter Inborn genetic diseases ⚠
- p.Gln385Arg Single submitter Inborn genetic diseases ⚠
- p.Glu3Asp Single submitter Inborn genetic diseases ⚠
- p.Gly541= Single submitter Inborn genetic diseases
- p.Gly541Ser Single submitter Inborn genetic diseases ⚠
- p.Thr484= Single submitter Bartter disease type 3
- p.Trp38Arg Single submitter ⚠
- p.Val149Glu Single submitter Bartter disease type 3 ⚠
- p.Val491Leu Single submitter Bartter disease type 3 ⚠
- p.Val58Leu Single submitter Inborn genetic diseases ⚠
- p.Val668Leu Single submitter Bartter disease type 4B ⚠
Benign 128
- c.101-121A>C Multiple submitters
- c.101-181C>G Multiple submitters
- c.1053+13G>C Multiple submitters
- c.1054-7G>A Multiple submitters
- c.1227+55T>G Multiple submitters
- c.1228-103C>T Multiple submitters
- c.1228-38A>G Multiple submitters
- c.1297+51A>G Multiple submitters
- c.1297+57G>C Multiple submitters
- c.1297+58C>A Multiple submitters
- c.1408+16G>C Multiple submitters
- c.1408+24C>G Multiple submitters
- c.1409-44C>G Multiple submitters
- c.1622+100C>T Multiple submitters
- c.1622+102C>T Multiple submitters
- c.1622+110G>A Multiple submitters
- c.1622+146C>G Multiple submitters
- c.1622+25A>G Multiple submitters
- c.1622+32G>A Multiple submitters
- c.1622+39C>T Multiple submitters
- c.1622+45T>C Multiple submitters
- c.1622+48G>A Multiple submitters
- c.1622+74G>C Multiple submitters
- c.1622+85G>A Multiple submitters
- c.1622+92T>C Multiple submitters
- c.1756+70G>A Multiple submitters
- c.1757-114C>T Multiple submitters
- c.1757-138T>A Multiple submitters
- c.1757-208C>T Multiple submitters
- c.1757-212T>C Multiple submitters
- c.1845+68C>T Multiple submitters
- c.1930-126G>C Multiple submitters
- c.1930-37T>A Multiple submitters Bartter disease type 3
- c.1930-40A>G Multiple submitters Bartter disease type 3
- c.1930-86T>A Multiple submitters
- c.2016+81G>A Multiple submitters
- c.2017-104A>G Multiple submitters
- c.2017-16C>T Multiple submitters Bartter disease type 4B
- c.2017-28G>C Multiple submitters Bartter disease type 3
- c.2017-97A>G Multiple submitters
- c.229+102T>G Multiple submitters
- c.230-59G>A Multiple submitters Bartter disease type 3
- c.358+124A>G Multiple submitters
- c.498+117A>G Multiple submitters
- c.498+51C>T Multiple submitters
- c.577-27T>G Multiple submitters
- c.655+133G>A Multiple submitters
- c.655+55C>T Multiple submitters
- c.656-105G>A Multiple submitters
- c.656-14A>T Multiple submitters
- c.656-261C>T Multiple submitters
- c.781+133C>T Multiple submitters
- c.781+98C>G Multiple submitters
- c.782-75G>C Multiple submitters
- c.866+35A>T Multiple submitters Bartter disease type 3
- c.866+47del Multiple submitters Bartter disease type 3
- c.968+36G>A Multiple submitters
- c.968+47T>C Multiple submitters Bartter disease type 3
- c.968+83C>G Multiple submitters
- c.969-58C>T Multiple submitters
- c.-7-190C>G Multiple submitters
- c.-7-82G>A Multiple submitters
- c.*104C>T Multiple submitters
- c.*271G>C Multiple submitters
- p.Ala214= Multiple submitters Bartter disease type 4B
- p.Ala214Gly Multiple submitters Bartter disease type 3
- p.Ala485= Multiple submitters
- p.Ala577Thr Multiple submitters Bartter disease type 3
- p.Arg27Leu Multiple submitters Bartter disease type 3 ⚠
- p.Arg395Trp Multiple submitters ⚠
- p.Asn509= Multiple submitters
- p.Cys292= Multiple submitters Bartter disease type 4B
- p.Ile436= Multiple submitters
- p.Met562Thr Multiple submitters Bartter disease type 3
- p.Phe4Leu Multiple submitters
- p.Ser88Arg Multiple submitters ⚠
- p.Thr418= Multiple submitters
- p.Val170= Multiple submitters
- p.Val275Ile Multiple submitters
- c.1227+10del Single submitter
- c.1227+61dup Single submitter
- c.1408+180G>A Single submitter
- c.1408+188_1409-186dup Single submitter
- c.1622+229G>A Single submitter
- c.1622+267C>T Single submitter
- c.1622+35del Single submitter
- c.1623-311G>A Single submitter
- c.1756+126G>A Single submitter
- c.1756+136A>T Single submitter
- c.1756+293G>A Single submitter
- c.1756+315C>T Single submitter
- c.1929+252T>C Single submitter
- c.1929+5C>T Single submitter
- c.1930-199T>C Single submitter
- c.1930-239C>G Single submitter
- c.1930-268T>C Single submitter
- c.1930-87_1930-85del Single submitter
- c.2016+18del Single submitter
- c.2016+34A>G Single submitter
- c.2017-29dup Single submitter
- c.229+102del Single submitter
- c.229+99_229+100insC Single submitter
- c.230-119G>A Single submitter
- c.230-222G>A Single submitter
- c.358+44_358+46del Single submitter
- c.359-215G>A Single submitter
- c.359-232G>A Single submitter
- c.576+16del Single submitter
- c.577-19del Single submitter
- c.655+10dup Single submitter
- c.782-147G>A Single submitter
- c.866+33_866+34insT Single submitter
- c.968+148A>G Single submitter
- c.969-180C>T Single submitter
- c.969-195C>G Single submitter
- c.969-219C>G Single submitter
- c.969-292A>G Single submitter
- c.-7-108_-7-107insACACACACACACAT Single submitter
- c.-7-108_-7-107insACACACACAT Single submitter
- c.-7-108_-7-107insACACAT Single submitter
- c.-7-240C>T Single submitter
- c.-7-247_-7-246del Single submitter
- c.-7-269T>C Single submitter
- c.-8+289T>G Single submitter
- c.-8+302G>C Single submitter
- p.Ile419Val Single submitter
- p.Val183= Single submitter
- p.Val334Leu Single submitter
Benign/Likely benign 8
- c.782-18A>G Multiple submitters Bartter disease type 3
- p.Ala77= Multiple submitters
- p.Cys626Tyr Multiple submitters mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
- p.Gly57= Multiple submitters
- p.Gly86= Multiple submitters
- p.Thr481Ser Multiple submitters ⚠
- p.Val104Ile Multiple submitters Bartter disease type 3 ⚠
- p.Val524Ile Multiple submitters Bartter disease type 3
Likely benign 166
- c.1227+11T>C Multiple submitters Bartter disease type 3
- c.1227+23G>A Multiple submitters
- c.1623-101C>T Multiple submitters
- c.1623-90G>A Multiple submitters
- c.1757-31G>A Multiple submitters
- c.1929+117T>C Multiple submitters
- c.655+146C>A Multiple submitters
- c.968+8C>G Multiple submitters
- c.*25G>A Multiple submitters
- p.Ala131Val Multiple submitters Bartter disease type 4B ⚠
- p.Arg544= Multiple submitters
- p.Asn364= Multiple submitters Bartter disease type 4B
- p.Asp274= Multiple submitters
- p.Gly465= Multiple submitters
- p.Ile419= Multiple submitters
- p.Leu18= Multiple submitters Bartter disease type 3
- p.Leu599= Multiple submitters Bartter disease type 3
- p.Leu94Ile Multiple submitters ⚠
- p.Pro280= Multiple submitters Bartter disease type 3
- p.Pro517= Multiple submitters
- p.Ser360= Multiple submitters Bartter disease type 4B
- p.Thr523= Multiple submitters Bartter disease type 3
- p.Val547= Multiple submitters
- c.100+15C>G Single submitter
- c.100+195G>A Single submitter
- c.100+3GA[3] Single submitter
- c.1053+7G>A Single submitter
- c.1053+9C>A Single submitter
- c.1054-13T>G Single submitter
- c.1054-9C>T Single submitter
- c.1227+13_1227+14inv Single submitter
- c.1227+13G>A Single submitter
- c.1228-10_1228-9delinsCT Single submitter
- c.1228-5_1228-4inv Single submitter
- c.1297+14C>T Single submitter
- c.1297+17G>A Single submitter
- c.1298-15T>C Single submitter
- c.1298-17C>G Single submitter
- c.1298-7_1298-6del Single submitter
- c.1408+13G>T Single submitter
- c.1409-18C>G Single submitter
- c.1622+13del Single submitter
- c.1756+10C>T Single submitter
- c.1756+11G>A Single submitter
- c.1756+19G>T Single submitter
- c.1757-17G>T Single submitter
- c.1845+16G>A Single submitter
- c.1845+17G>C Single submitter
- c.1846-5C>G Single submitter
- c.1929+11G>T Single submitter
- c.1929+17G>A Single submitter
- c.1929+293C>T Single submitter
- c.2016+109G>A Single submitter
- c.2016+13C>T Single submitter
- c.2016+14G>A Single submitter
- c.2016+19C>A Single submitter
- c.2016+20A>G Single submitter
- c.2017-12T>G Single submitter
- c.229+101dup Single submitter
- c.229+10C>T Single submitter
- c.229+20T>G Single submitter
- c.230-10C>G Single submitter
- c.230-14C>G Single submitter
- c.358+14C>T Single submitter
- c.358+15G>C Single submitter
- c.358+15G>T Single submitter
- c.358+19C>T Single submitter
- c.358+8C>T Single submitter
- c.498+15G>T Single submitter
- c.498+7G>T Single submitter
- c.499-13C>A Single submitter
- c.499-16A>G Single submitter
- c.499-17_499-16insTGG Single submitter
- c.499-18C>G Single submitter
- c.499-4G>T Single submitter
- c.576+12G>A Single submitter
- c.576+13G>C Single submitter
- c.577-12del Single submitter
- c.655+11T>C Single submitter
- c.655+152del Single submitter
- c.655+17C>T Single submitter
- c.655+19C>A Single submitter
- c.656-131C>T Single submitter
- c.656-20G>C Single submitter
- c.781+13G>A Single submitter
- c.781+14G>A Single submitter
- c.782-20C>G Single submitter
- c.782-8T>G Single submitter
- c.866+15T>C Single submitter
- c.866+18G>A Single submitter
- c.867-7del Single submitter
- c.968+107_968+108insGCCATTATTTTTT Single submitter
- c.968+13C>T Single submitter
- c.968+7T>C Single submitter
- c.969-16_969-11dup Single submitter
- c.-7-108_-7-107insACACACACACAT Single submitter
- c.*181G>A Single submitter
- p.Ala131= Single submitter
- p.Ala156= Single submitter
- p.Ala205= Single submitter
- p.Ala254= Single submitter
- p.Ala344= Single submitter
- p.Ala368= Single submitter
- p.Arg272= Single submitter
- p.Arg304= Single submitter
- p.Arg534= Single submitter
- p.Arg534Trp Single submitter Inborn genetic diseases
- p.Arg544His Single submitter
- p.Asn14Asp Single submitter Inborn genetic diseases
- p.Asn198= Single submitter
- p.Asp87= Single submitter
- p.Cys157Ser Single submitter Inborn genetic diseases
- p.Cys667= Single submitter
- p.Gln41= Single submitter
- p.Glu190= Single submitter
- p.Glu566= Single submitter
- p.Gly145= Single submitter
- p.Gly290Val Single submitter
- p.Gly293= Single submitter
- p.Gly47= Single submitter
- p.Gly592= Single submitter
- p.Ile224= Single submitter
- p.Ile540= Single submitter
- p.Leu163= Single submitter
- p.Leu21= Single submitter
- p.Leu291= Single submitter
- p.Leu358= Single submitter
- p.Leu387= Single submitter
- p.Leu39= Single submitter
- p.Leu56= Single submitter
- p.Leu618= Single submitter
- p.Leu622= Single submitter
- p.Leu641= Single submitter
- p.Leu650= Single submitter
- p.Leu94= Single submitter
- p.Lys578Glu Single submitter
- p.Phe144= Single submitter
- p.Phe169= Single submitter
- p.Phe362= Single submitter
- p.Phe489= Single submitter
- p.Pro116= Single submitter
- p.Pro124= Single submitter
- p.Pro26= Single submitter
- p.Pro379= Single submitter
- p.Pro394= Single submitter
- p.Pro463= Single submitter
- p.Pro500= Single submitter
- p.Pro683= Single submitter
- p.Ser121= Single submitter
- p.Ser159= Single submitter
- p.Ser328= Single submitter
- p.Ser343= Single submitter
- p.Thr244= Single submitter
- p.Thr401= Single submitter
- p.Thr417= Single submitter
- p.Thr659= Single submitter
- p.Thr681= Single submitter
- p.Tyr236= Single submitter
- p.Tyr392= Single submitter
- p.Val174= Single submitter
- p.Val567= Single submitter
- p.Val58= Single submitter
- p.Val582= Single submitter
- p.Val668= Single submitter
- p.Val74= Single submitter
- p.Val75= Single submitter
Uncertain significance 185
- p.Ala177Ser Multiple submitters Bartter disease type 3 ⚠
- p.Ala178Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala298Thr Multiple submitters Bartter disease type 3 ⚠
- p.Ala488Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala70Asp Multiple submitters Bartter disease type 3 ⚠
- p.Ala77Val Multiple submitters Bartter disease type 4B ⚠
- p.Arg27Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg29His Multiple submitters Bartter disease type 3 ⚠
- p.Arg30Gln Multiple submitters Bartter disease type 3 ⚠
- p.Arg33Gln Multiple submitters Bartter disease type 3 ⚠
- p.Arg45Cys Multiple submitters Bartter disease type 3 ⚠
- p.Arg544Cys Multiple submitters Bartter disease type 4B ⚠
- p.Asp363Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys617Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Glu583Asp Multiple submitters Bartter disease type 3 ⚠
- p.Gly345Ser Multiple submitters Bartter disease type 3 ⚠
- p.Gly493Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly625Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile525Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu43Val Multiple submitters Bartter disease type 3 ⚠
- p.Phe44Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Pro530Ser Multiple submitters Bartter disease type 3 ⚠
- p.Pro627Thr Multiple submitters ⚠
- p.Ser113Thr Multiple submitters Bartter disease type 3 ⚠
- p.Thr371Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr659Met Multiple submitters Bartter disease type 3 ⚠
- p.Val453Met Multiple submitters Inborn genetic diseases ⚠
- p.Val501Met Multiple submitters Inborn genetic diseases ⚠
- c.1227+3G>A Single submitter Bartter disease type 3
- c.1227+8C>T Single submitter Bartter disease type 3
- c.1408+8G>A Single submitter Bartter disease type 3
- c.1622+14A>T Single submitter Bartter disease type 3
- c.1929+6G>A Single submitter
- c.1930-3C>A Single submitter Bartter disease type 3
- c.229+5C>A Single submitter
- c.498+12G>T Single submitter
- c.577-12C>A Single submitter
- c.577-3C>G Single submitter
- c.968+5G>A Single submitter
- p.Ala206Ser Single submitter Bartter disease type 4B ⚠
- p.Ala242Val Single submitter Bartter disease type 3 ⚠
- p.Ala287Met Single submitter Bartter disease type 3
- p.Ala287Thr Single submitter Inborn genetic diseases ⚠
- p.Ala321Asp Single submitter ⚠
- p.Ala331_Thr332insLeuAla Single submitter
- p.Ala344Thr Single submitter Inborn genetic diseases ⚠
- p.Ala368Val Single submitter Inborn genetic diseases ⚠
- p.Ala469Gly Single submitter Inborn genetic diseases ⚠
- p.Ala77Glu Single submitter ⚠
- p.Arg182Cys Single submitter ⚠
- p.Arg182Pro Single submitter Bartter disease type 3 ⚠
- p.Arg184Leu Single submitter ⚠
- p.Arg251Trp Single submitter Inborn genetic diseases ⚠
- p.Arg272Gln Single submitter Bartter disease type 3 ⚠
- p.Arg272Trp Single submitter Inborn genetic diseases ⚠
- p.Arg27Gly Single submitter Inborn genetic diseases ⚠
- p.Arg29Cys Single submitter Inborn genetic diseases ⚠
- p.Arg29Leu Single submitter Bartter disease type 3 ⚠
- p.Arg346Cys Single submitter Inborn genetic diseases ⚠
- p.Arg346His Single submitter Inborn genetic diseases ⚠
- p.Arg351Pro Single submitter ⚠
- p.Arg395Leu Single submitter ⚠
- p.Arg45His Single submitter ⚠
- p.Arg661Gln Single submitter ⚠
- p.Arg661Trp Single submitter Inborn genetic diseases ⚠
- p.Arg8His Single submitter Bartter disease type 4B ⚠
- p.Arg8Ser Single submitter Bartter disease type 3 ⚠
- p.Asn143Lys Single submitter Inborn genetic diseases ⚠
- p.Asn198Ser Single submitter Inborn genetic diseases ⚠
- p.Asn313Asp Single submitter Inborn genetic diseases ⚠
- p.Asn646Lys Single submitter Inborn genetic diseases ⚠
- p.Asp137Val Single submitter Inborn genetic diseases ⚠
- p.Asp274Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp278Asn Single submitter ⚠
- p.Asp363His Single submitter Inborn genetic diseases ⚠
- p.Asp383Gly Single submitter Inborn genetic diseases ⚠
- p.Cys302Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln372Glu Single submitter Inborn genetic diseases ⚠
- p.Gln616Leu Single submitter ⚠
- p.Gln79Arg Single submitter Bartter disease type 3 ⚠
- p.Glu199Lys Single submitter ⚠
- p.Glu37Gly Single submitter Inborn genetic diseases ⚠
- p.Glu48Lys Single submitter Inborn genetic diseases ⚠
- p.Glu643= Single submitter
- p.Glu649Lys Single submitter Bartter disease type 3 ⚠
- p.Glu84Gln Single submitter ⚠
- p.Glu9= Single submitter Bartter disease type 3
- p.Glu9Lys Single submitter Bartter disease type 3 ⚠
- p.Gly10Val Single submitter Bartter disease type 3 ⚠
- p.Gly164Asp Single submitter
- p.Gly189Arg Single submitter Inborn genetic diseases ⚠
- p.Gly219Cys Single submitter ⚠
- p.Gly34Asp Single submitter ⚠
- p.Gly465Arg Single submitter ⚠
- p.His171Pro Single submitter Inborn genetic diseases ⚠
- p.His386Tyr Single submitter Inborn genetic diseases ⚠
- p.His497Pro Single submitter Inborn genetic diseases ⚠
- p.His553Asn Single submitter ⚠
- p.His78Tyr Single submitter ⚠
- p.Ile263Val Single submitter Inborn genetic diseases ⚠
- p.Ile310Val Single submitter Bartter disease type 3 ⚠
- p.Ile398_Thr401del Single submitter
- p.Ile414Thr Single submitter Inborn genetic diseases ⚠
- p.Ile436Phe Single submitter ⚠
- p.Ile495Arg Single submitter Inborn genetic diseases ⚠
- p.Ile495Met Single submitter ⚠
- p.Ile589Thr Single submitter ⚠
- p.Leu103= Single submitter
- p.Leu155Arg Single submitter Inborn genetic diseases ⚠
- p.Leu155Pro Single submitter ⚠
- p.Leu155Val Single submitter Inborn genetic diseases ⚠
- p.Leu201Arg Single submitter Inborn genetic diseases ⚠
- p.Leu253= Single submitter
- p.Leu53Val Single submitter Inborn genetic diseases ⚠
- p.Leu603Val Single submitter Inborn genetic diseases ⚠
- p.Leu641Val Single submitter Inborn genetic diseases ⚠
- p.Leu647Pro Single submitter Inborn genetic diseases ⚠
- p.Leu656His Single submitter Bartter disease type 3 ⚠
- p.Leu7Pro Single submitter Bartter disease type 3 ⚠
- p.Lys578_Tyr579insValValThrSerThrAspValAlaLys Single submitter
- p.Met176Ile Single submitter ⚠
- p.Met176Leu Single submitter Inborn genetic diseases ⚠
- p.Met176Val Single submitter Inborn genetic diseases ⚠
- p.Met370Lys Single submitter ⚠
- p.Met412Val Single submitter Inborn genetic diseases ⚠
- p.Met54Val Single submitter ⚠
- p.Met60Thr Single submitter Inborn genetic diseases ⚠
- p.Met673Val Single submitter Inborn genetic diseases ⚠
- p.Phe144Ser Single submitter ⚠
- p.Phe217Leu Single submitter Inborn genetic diseases ⚠
- p.Phe307Ile Single submitter ⚠
- p.Phe315Cys Single submitter Inborn genetic diseases ⚠
- p.Phe489Val Single submitter ⚠
- p.Phe519Tyr Single submitter Bartter disease type 3 ⚠
- p.Phe648Leu Single submitter Bartter disease type 4B ⚠
- p.Phe648Tyr Single submitter Inborn genetic diseases ⚠
- p.Pro124Arg Single submitter ⚠
- p.Pro15Arg Single submitter Inborn genetic diseases ⚠
- p.Pro216Ala Single submitter Bartter disease type 3 ⚠
- p.Pro26Leu Single submitter Inborn genetic diseases ⚠
- p.Pro341Ser Single submitter ⚠
- p.Pro449Arg Single submitter Inborn genetic diseases ⚠
- p.Pro460Ala Single submitter Inborn genetic diseases ⚠
- p.Pro500Ser Single submitter Inborn genetic diseases ⚠
- p.Pro683Leu Single submitter ⚠
- p.Ser105= Single submitter
- p.Ser107Phe Single submitter ⚠
- p.Ser11Phe Single submitter Bartter disease type 3 ⚠
- p.Ser121Phe Single submitter Bartter disease type 3 ⚠
- p.Ser218Arg Single submitter Bartter disease type 3 ⚠
- p.Ser258Arg Single submitter ⚠
- p.Ser297Arg Single submitter ⚠
- p.Ser343Arg Single submitter Bartter disease type 3 ⚠
- p.Ser343Asn Single submitter Bartter disease type 3 ⚠
- p.Ser360Leu Single submitter Inborn genetic diseases ⚠
- p.Ser360Pro Single submitter Bartter disease type 3 ⚠
- p.Ser374Phe Single submitter Inborn genetic diseases ⚠
- p.Ser518Ala Single submitter ⚠
- p.Ser640Tyr Single submitter Inborn genetic diseases ⚠
- p.Thr185Asn Single submitter Inborn genetic diseases ⚠
- p.Thr244Ile Single submitter ⚠
- p.Thr269Ile Single submitter ⚠
- p.Thr269Ser Single submitter ⚠
- p.Thr417Ala Single submitter Inborn genetic diseases ⚠
- p.Thr523Ile Single submitter Inborn genetic diseases ⚠
- p.Thr556Ile Single submitter ⚠
- p.Thr628Ile Single submitter Bartter disease type 3 ⚠
- p.Thr659Arg Single submitter ⚠
- p.Thr97Ile Single submitter Bartter disease type 3 ⚠
- p.Trp391Arg Single submitter ⚠
- p.Tyr432Phe Single submitter ⚠
- p.Val126Ala Single submitter ⚠
- p.Val148Met Single submitter Inborn genetic diseases ⚠
- p.Val275Ala Single submitter ⚠
- p.Val491Met Single submitter ⚠
- p.Val496Ala Single submitter Bartter disease type 3 ⚠
- p.Val526Ala Single submitter Bartter disease type 3 ⚠
- p.Val545Leu Single submitter ⚠
- p.Val567Met Single submitter Inborn genetic diseases ⚠
- p.Val568Ile Single submitter Bartter disease type 3 ⚠
- p.Val63Ile Single submitter Bartter disease type 3 ⚠
- p.Ala559Thr No assertion criteria ⚠
- p.Gly289Arg No assertion criteria ⚠
- p.Gly464Ala No assertion criteria ⚠
- p.Pro24Leu No assertion criteria ⚠