Total 50 pathogenic variants reported for Bartter syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr) SNV
Germline		 Chr1:16048537 Pathogenic/Likely pathogenic Bartter disease type 3
Condition: not provided
Bartter disease type 4B
Bartter disease type 3
Bartter syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118913 rs_121909132

11 SubmittersRCV000008030RCV001280721RCV001535912RCV006263622
NM_000085.5(CLCNKB):c.1830G>A (p.Trp610Ter) SNV
Germline		 Chr1:16055508 Pathogenic Bartter syndrome, type 3, with hypocalciuria
Condition: not provided
Bartter disease type 4B
Bartter disease type 3
Bartter disease type 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118917 rs_121909136

6 SubmittersRCV000008037RCV000413605RCV001536025RCV005252667
NM_000085.5(CLCNKB):c.230-1G>C SNV
Germline		 Chr1:16046534 Pathogenic Bartter syndrome, type 3, with hypocalciuria No Assertion Criteria Provided
 CA338631597 rs_554794449

1 SubmittersRCV000008038
NM_000085.5(CLCNKB):c.1929+1G>A SNV
Germline		 Chr1:16055759 Pathogenic BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS No Assertion Criteria Provided
 CA338645790 rs_1191726071

1 SubmittersRCV000008039
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu) SNV
Germline		 Chr3:122284482 Likely pathogenic Bartter syndrome with hypocalcemia
Autosomal dominant hypocalcemia 1		 Criteria Provided
Single Submitter
 CA119519 rs_104893706

2 SubmittersRCV000008847RCV000054480
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) SNV
Germline		 Chr3:122257269 Pathogenic/Likely pathogenic Autosomal dominant hypocalcemia 1
Bartter syndrome with hypocalcemia
Condition: not provided
Epilepsy, idiopathic generalized, susceptibility to, 8
Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119525 rs_104893708

5 SubmittersRCV000008851RCV000190877RCV001781207RCV002482843RCV003764538
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) SNV
Germline		 Chr16:56886402 Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Bartter syndrome
Familial hypokalemia-hypomagnesemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119770 rs_121909380

15 SubmittersRCV000009119RCV000518052RCV001328221
NM_153766.3(KCNJ1):c.584C>T (p.Ala195Val) SNV
Germline		 Chr11:128839660 Conflicting classifications of pathogenicity Bartter disease type 2
Condition: not provided
Bartter syndrome		 Criteria Provided
Conflicting Classifications
 CA120154 rs_104894246

5 SubmittersRCV000009727RCV003555991RCV005406735
NM_153766.3(KCNJ1):c.535G>A (p.Ala179Thr) SNV
Germline		 Chr11:128839709 Likely pathogenic Bartter disease type 2
Condition: not provided
Bartter syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120158 rs_104894253

4 SubmittersRCV000009729RCV003555992RCV004579516
NM_153766.3(KCNJ1):c.443G>A (p.Gly148Glu) SNV
Germline		 Chr11:128839801 Likely pathogenic Bartter disease type 2
Bartter syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120160 rs_104894254

4 SubmittersRCV000009730RCV004585994
NM_000388.4(CASR):c.85A>G (p.Lys29Glu) SNV
Germline		 Chr3:122254274 Pathogenic Bartter syndrome with hypocalcemia No Assertion Criteria Provided
 CA144613 rs_397514729

1 SubmittersRCV000054483
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) SNV
Germline		 Chr16:56887967 Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Hypokalemia
Hypermagnesemia
Myalgia
Muscle weakness
Bartter syndrome
Familial hypokalemia-hypomagnesemia
SLC12A3-related disorder
Inherited renal tubular disease
Renal tubulopathies		 Criteria Provided
Multiple Submitters
No Conflicts
 CA204579 rs_138977195

29 SubmittersRCV000190624RCV000255367RCV000626663RCV001328096RCV003401040RCV004017477RCV006250219
NM_000338.3(SLC12A1):c.905G>A (p.Arg302Gln) SNV
Germline		 Chr15:48230433 Conflicting classifications of pathogenicity Condition: not provided
Bartter disease type 1
Bartter syndrome		 Criteria Provided
Conflicting Classifications
 CA7546932 rs_747229048

5 SubmittersRCV000348606RCV002248509RCV002509348
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp) SNV
Germline		 Chr16:56904401 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Familial hypokalemia-hypomagnesemia
Bartter syndrome		 Criteria Provided
Conflicting Classifications
 CA8070131 rs_559626481

6 SubmittersRCV000341379RCV001389305RCV001328102
NM_001126108.2(SLC12A3):c.2856+1G>T SNV
Germline		 Chr16:56902509 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Bartter syndrome
Familial hypokalemia-hypomagnesemia
Renal tubulopathies		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8070077 rs_199974259

20 SubmittersRCV000412851RCV001328169RCV001271445RCV006250221
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) SNV
Germline		 Chr16:56886366 Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Bartter syndrome
Familial hypokalemia-hypomagnesemia
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8069667 rs_140012781

23 SubmittersRCV000477915RCV000681948RCV001328101RCV004023099
NM_001126108.2(SLC12A3):c.506-1G>A SNV
Germline		 Chr16:56869728 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Familial hypokalemia-hypomagnesemia
Bartter syndrome
SLC12A3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8069085 rs_201555148

11 SubmittersRCV000517374RCV000762971RCV001328170RCV003925548
NM_000388.4(CASR):c.494T>G (p.Val165Gly) SNV
Germline		 Chr3:122261529 Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Neonatal severe primary hyperparathyroidism
Autosomal dominant hypocalcemia 1
Bartter syndrome with hypocalcemia
not specified
Nephrolithiasis/nephrocalcinosis		 Criteria Provided
Conflicting Classifications
 CA354150710 rs_1559958757

4 SubmittersRCV000686284RCV003483704RCV003387911RCV004026232
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) SNV
Germline		 Chr16:56879207 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Familial hypokalemia-hypomagnesemia
Bartter syndrome
Inborn genetic diseases
Familial aortopathy
SLC12A3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8069419 rs_759377924

19 SubmittersRCV000713326RCV000760979RCV001328223RCV004026826RCV004544962RCV004745564
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) SNV
Germline		 Chr16:56913277 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Bartter syndrome
Familial hypokalemia-hypomagnesemia
Inborn genetic diseases
Renal tubulopathies		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8070170 rs_34803727

15 SubmittersRCV000713331RCV000762975RCV001328220RCV004026827RCV006634308
NM_153766.3(KCNJ1):c.155C>T (p.Thr52Met) SNV
Germline		 Chr11:128840089 Pathogenic Bartter disease type 2
Condition: not provided
Bartter syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6357563 rs_373367600

3 SubmittersRCV000778314RCV001856155RCV003226388
NM_000388.4(CASR):c.2278A>T (p.Ile760Phe) SNV
Germline		 Chr3:122284232 Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Bartter syndrome with hypocalcemia
not specified		 Criteria Provided
Conflicting Classifications
 CA354159289 rs_1453953571

3 SubmittersRCV000808149RCV003483733RCV004702437
NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg) SNV
Germline		 Chr1:16051721 Pathogenic/Likely pathogenic Bartter disease type 3
Bartter disease type 3
Bartter disease type 4B
Condition: not provided
Bartter syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA623810 rs_755714542

7 SubmittersRCV000986255RCV001328286RCV002549662RCV006269267
NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly) SNV
Germline		 Chr1:16051737 Pathogenic/Likely pathogenic Condition: not provided
Bartter disease type 3
Bartter disease type 3
Bartter disease type 4B
Bartter syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA338641371 rs_1180658535

5 SubmittersRCV000991835RCV001195134RCV005047169RCV004689946
NM_001126108.2(SLC12A3):c.1314C>G (p.Tyr438Ter) SNV
Germline		 Chr16:56879206 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Bartter syndrome		 Criteria Provided
Single Submitter
 CA395986317 rs_776210036

2 SubmittersRCV001035507RCV001328171
NM_001126108.2(SLC12A3):c.3025C>T (p.Arg1009Ter) SNV
Germline		 Chr16:56913364 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Bartter syndrome
Familial hypokalemia-hypomagnesemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8070190 rs_781209989

7 SubmittersRCV001036419RCV001328173RCV001813809
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) SNV
Germline		 Chr11:128839643 Conflicting classifications of pathogenicity Condition: not provided
Bartter disease type 2
Bartter syndrome		 Criteria Provided
Conflicting Classifications
 CA6357488 rs_200320892

14 SubmittersRCV001092303RCV001251500RCV002282455
NM_153766.3(KCNJ1):c.89G>A (p.Cys30Tyr) SNV
Germline		 Chr11:128840155 Pathogenic/Likely pathogenic Condition: not provided
Bartter syndrome
Bartter disease type 2
Renal tubulopathies		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6357574 rs_764078087

6 SubmittersRCV001879954RCV004798898RCV004799424RCV006250224
NM_001126108.2(SLC12A3):c.1636A>G (p.Ser546Gly) SNV
Germline		 Chr16:56882464 Pathogenic Bartter syndrome
Familial hypokalemia-hypomagnesemia
Condition: not provided		 Criteria Provided
Single Submitter
 CA395989204 rs_1451284628

2 SubmittersRCV001328166RCV001880185
NM_000388.4(CASR):c.209G>A (p.Trp70Ter) SNV
Germline		 Chr3:122257104 Pathogenic Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Bartter syndrome with hypocalcemia
Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA354362387 rs_2107627458

3 SubmittersRCV001535770RCV001873792RCV003399331
NM_153766.3(KCNJ1):c.887T>G (p.Val296Gly) SNV
Germline		 Chr11:128839357 Pathogenic/Likely pathogenic Bartter syndrome
Condition: not provided
Bartter disease type 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6357430 rs_753949204

3 SubmittersRCV002240079RCV003560878RCV005042751
NM_000338.3(SLC12A1):c.1685-2A>G SNV
Germline		 Chr15:48249573 Conflicting classifications of pathogenicity Bartter syndrome
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA392313146 rs_1465842300

3 SubmittersRCV002282821RCV003289497RCV003698899
NM_153766.3(KCNJ1):c.251C>T (p.Ala84Val) SNV
Germline		 Chr11:128839993 Pathogenic/Likely pathogenic Bartter disease type 2
Condition: not provided
Bartter syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6357549 rs_764778741

4 SubmittersRCV002468723RCV003561051RCV004765526
NM_153766.3(KCNJ1):c.874C>T (p.Arg292Trp) SNV
Germline		 Chr11:128839370 Pathogenic Bartter syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6357435 rs_779747435

2 SubmittersRCV002469957RCV003561053
NM_000338.3(SLC12A1):c.421-1G>A SNV
Germline		 Chr15:48220633 Likely pathogenic Bartter syndrome Criteria Provided
Single Submitter
 CA392303763 rs_2041199779

1 SubmittersRCV002469972
NM_000338.3(SLC12A1):c.1493C>T (p.Ala498Val) SNV
Germline		 Chr15:48246949 Likely pathogenic Condition: not provided
Bartter syndrome
Bartter disease type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA392311814 rs_1366101480

3 SubmittersRCV003064255RCV004765639RCV005002930
NM_000338.3(SLC12A1):c.2741G>A (p.Trp914Ter) SNV
Germline		 Chr15:48288154 Pathogenic/Likely pathogenic Bartter syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA392317970 rs_2042079691

2 SubmittersRCV002510404RCV003689021
NM_000338.3(SLC12A1):c.975+1G>A SNV
Germline		 Chr15:48230504 Likely pathogenic Condition: not provided
Bartter disease type 1
Bartter syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7546939 rs_770400317

4 SubmittersRCV002635503RCV003340526RCV003994449
NM_000085.5(CLCNKB):c.1313G>A (p.Arg438His) SNV
Germline		 Chr1:16051725 Pathogenic Condition: not provided
Bartter syndrome
Bartter disease type 3
Bartter disease type 4B		 Criteria Provided
Multiple Submitters
No Conflicts
 CA623812 rs_201540273

5 SubmittersRCV002938123RCV003317629RCV005045069
NM_000338.3(SLC12A1):c.2281C>T (p.Arg761Ter) SNV
Germline		 Chr15:48267687 Pathogenic Condition: not provided
Bartter syndrome
Bartter disease type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA269490021 rs_199877869

4 SubmittersRCV003120427RCV004765754RCV005003019
NM_153766.3(KCNJ1):c.472G>A (p.Ala158Thr) SNV
Germline		 Chr11:128839772 Likely pathogenic Bartter syndrome Criteria Provided
Single Submitter
 CA383244941 rs_758128834

1 SubmittersRCV003236387
NM_000338.3(SLC12A1):c.1663G>A (p.Ala555Thr) SNV
Germline		 Chr15:48247439 Likely pathogenic Bartter syndrome
Bartter disease type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2505087791

2 SubmittersRCV004586296RCV005006450
NM_000085.5(CLCNKB):c.229G>C (p.Ala77Pro) SNV
Germline		 Chr1:16045686 Pathogenic/Likely pathogenic Condition: not provided
Bartter syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004719417RCV006269965
NM_000085.5(CLCNKB):c.490G>T (p.Gly164Trp) SNV
Germline		 Chr1:16048036 Likely pathogenic Bartter syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004799023
NM_000085.5(CLCNKB):c.1066C>T (p.Gln356Ter) SNV
Germline		 Chr1:16050887 Pathogenic Bartter syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006457684
NM_000338.3(SLC12A1):c.2485+2T>C SNV
Germline		 Chr15:48274655 Likely pathogenic Bartter syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006457880