Total 61 pathogenic variants reported for Bartter disease type 2 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_153766.3(KCNJ1):c.180C>G (p.Tyr60Ter) SNV
Germline		 Chr11:128840064 Pathogenic Bartter disease type 2 No Assertion Criteria Provided
 CA120150 rs_104894244

1 SubmittersRCV000009723
NM_153766.3(KCNJ1):c.600C>G (p.Ser200Arg) SNV
Germline		 Chr11:128839644 Pathogenic Bartter disease type 2
Condition: not provided		 Criteria Provided
Single Submitter
 CA120152 rs_104894245

2 SubmittersRCV000009725RCV003555990
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

3 SubmittersRCV000009730RCV004585994
NM_153766.3(KCNJ1):c.265G>C (p.Asp89His) SNV
Germline		 Chr11:128839979 Pathogenic Bartter disease type 2 No Assertion Criteria Provided
 CA120162 rs_104894250

1 SubmittersRCV000009731
NM_153766.3(KCNJ1):c.315T>A (p.Asn105Lys) SNV
Germline		 Chr11:128839929 Pathogenic Bartter disease type 2 No Assertion Criteria Provided
 CA120164 rs_104894251

1 SubmittersRCV000009732
NM_153766.3(KCNJ1):c.262A>G (p.Lys88Glu) SNV
Germline		 Chr11:128839982 Conflicting classifications of pathogenicity Condition: not provided
Bartter disease type 2		 Criteria Provided
Conflicting Classifications
 CA216044 rs_185212943

3 SubmittersRCV000054579RCV000356282
NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys) SNV
Germline		 Chr11:128839739 Conflicting classifications of pathogenicity Bartter disease type 2
not specified
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6357505 rs_138120505

5 SubmittersRCV000490394RCV000517253RCV001853388RCV002515597
NM_153766.3(KCNJ1):c.837T>C (p.Asp279=) SNV
Germline		 Chr11:128839407 Conflicting classifications of pathogenicity Bartter disease type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6357445 rs_147861417

2 SubmittersRCV000392977RCV002056177
NM_153766.3(KCNJ1):c.17G>A (p.Arg6Gln) SNV
Germline		 Chr11:128840227 Conflicting classifications of pathogenicity Bartter disease type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6357590 rs_139185738

2 SubmittersRCV000276591RCV000891022
NM_153766.3(KCNJ1):c.732C>T (p.Ile244=) SNV
Germline		 Chr11:128839512 Conflicting classifications of pathogenicity Bartter disease type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10638456 rs_886047985

2 SubmittersRCV000343049RCV003765790
NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter) SNV
Germline		 Chr11:128839667 Pathogenic/Likely pathogenic Bartter disease type 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6357493 rs_201707868

5 SubmittersRCV000406974RCV003565401
NM_153766.3(KCNJ1):c.35G>A (p.Arg12His) SNV
Germline		 Chr11:128840209 Conflicting classifications of pathogenicity Bartter disease type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6357584 rs_566704910

2 SubmittersRCV000355136RCV000936543
NM_153766.3(KCNJ1):c.262A>T (p.Lys88Ter) SNV
Germline		 Chr11:128839982 Pathogenic Bartter disease type 2 No Assertion Criteria Provided
 CA16043357 rs_185212943

1 SubmittersRCV000414946
NM_153766.3(KCNJ1):c.705C>T (p.Asp235=) SNV
Germline		 Chr11:128839539 Conflicting classifications of pathogenicity not specified
Bartter disease type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6357470 rs_142030262

3 SubmittersRCV000518303RCV001107278RCV000895805
NM_153766.3(KCNJ1):c.-21-2121G>A SNV
Germline		 Chr11:128842385 Conflicting classifications of pathogenicity not specified
Bartter disease type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6357616 rs_147611594

4 SubmittersRCV000516495RCV001102693RCV000923639
NM_153766.3(KCNJ1):c.955C>T (p.Arg319Ter) SNV
Germline		 Chr11:128839289 Pathogenic/Likely pathogenic Condition: not provided
Bartter disease type 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6357411 rs_377205432

3 SubmittersRCV000627258RCV000763228
NM_153766.3(KCNJ1):c.867C>A (p.Cys289Ter) SNV
Germline		 Chr11:128839377 Pathogenic/Likely pathogenic Condition: not provided
Bartter disease type 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6357436 rs_746509804

5 SubmittersRCV000712086RCV001784350
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_153766.3(KCNJ1):c.798C>A (p.Thr266=) SNV
Germline		 Chr11:128839446 Conflicting classifications of pathogenicity Condition: not provided
Bartter disease type 2		 Criteria Provided
Conflicting Classifications
 CA6357448 rs_139777470

2 SubmittersRCV000910958RCV001107276
NM_153766.3(KCNJ1):c.602T>G (p.Leu201Arg) SNV
Germline		 Chr11:128839642 Likely pathogenic Bartter disease type 2 Criteria Provided
Single Submitter
 CA383244672 rs_1411280373

1 SubmittersRCV001089940
NM_153766.3(KCNJ1):c.551G>A (p.Arg184Gln) SNV
Germline		 Chr11:128839693 Likely pathogenic Bartter disease type 2 Criteria Provided
Multiple Submitters
No Conflicts
 CA383244774 rs_1380025163

2 SubmittersRCV001089939
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

13 SubmittersRCV001092303RCV001251500RCV002282455
NM_153766.3(KCNJ1):c.521C>T (p.Thr174Met) SNV
Germline		 Chr11:128839723 Conflicting classifications of pathogenicity Bartter disease type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6357503 rs_117535913

4 SubmittersRCV001107279RCV002067791
NM_153766.3(KCNJ1):c.87G>A (p.Arg29=) SNV
Germline		 Chr11:128840157 Conflicting classifications of pathogenicity Bartter disease type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA230629220 rs_909572402

2 SubmittersRCV001107927RCV003769107
NM_153766.3(KCNJ1):c.27C>T (p.Val9=) SNV
Germline		 Chr11:128840217 Conflicting classifications of pathogenicity Bartter disease type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6357589 rs_759301135

2 SubmittersRCV001102692RCV003769076
NM_153766.3(KCNJ1):c.89G>A (p.Cys30Tyr) SNV
Germline		 Chr11:128840155 Conflicting classifications of pathogenicity Condition: not provided
Bartter syndrome
Bartter disease type 2		 Criteria Provided
Conflicting Classifications
 CA6357574 rs_764078087

5 SubmittersRCV001879954RCV004798898RCV004799424
NM_153766.3(KCNJ1):c.272C>T (p.Pro91Leu) SNV
Germline		 Chr11:128839972 Pathogenic/Likely pathogenic Bartter disease type 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6357543 rs_373745258

3 SubmittersRCV001261008RCV003558774
NM_153766.3(KCNJ1):c.505C>A (p.Arg169Ser) SNV
Germline		 Chr11:128839739 Conflicting classifications of pathogenicity Condition: not provided
Bartter disease type 2		 Criteria Provided
Conflicting Classifications
 CA6357506 rs_138120505

3 SubmittersRCV001309765RCV003130257
NM_153766.3(KCNJ1):c.550C>T (p.Arg184Trp) SNV
Germline		 Chr11:128839694 Likely pathogenic Bartter disease type 2 Criteria Provided
Single Submitter
 CA6357497 rs_779864905

1 SubmittersRCV001808837
NM_153766.3(KCNJ1):c.875G>A (p.Arg292Gln) SNV
Germline		 Chr11:128839369 Pathogenic/Likely pathogenic Condition: not provided
Bartter disease type 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6357434 rs_373198476

3 SubmittersRCV002002896RCV005042640
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_153766.3(KCNJ1):c.251C>T (p.Ala84Val) SNV
Germline		 Chr11:128839993 Pathogenic/Likely pathogenic Bartter disease type 2
Bartter syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6357549 rs_764778741

4 SubmittersRCV002468723RCV004765526RCV003561051
NM_153766.3(KCNJ1):c.76A>G (p.Lys26Glu) SNV
Germline		 Chr11:128840168 Likely pathogenic Condition: not provided
Bartter disease type 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6357579 rs_755164642

2 SubmittersRCV002511718RCV005042858
NM_153766.3(KCNJ1):c.514A>C (p.Thr172Pro) SNV
Germline		 Chr11:128839730 Pathogenic Bartter disease type 2 Criteria Provided
Single Submitter
 CA383244853 rs_1049368346

1 SubmittersRCV003388812
NM_153766.3(KCNJ1):c.118C>T (p.Gln40Ter) SNV
Germline		 Chr11:128840126 Likely pathogenic Bartter disease type 2 Criteria Provided
Single Submitter
 CA230629123 rs_935108422

1 SubmittersRCV003447741
NM_153766.3(KCNJ1):c.240G>T (p.Trp80Cys) SNV
Germline		 Chr11:128840004 Likely pathogenic Condition: not provided
Bartter disease type 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA383246548 rs_1213764655

2 SubmittersRCV003557692RCV005047691
NM_153766.3(KCNJ1):c.240G>A (p.Trp80Ter) SNV
Germline		 Chr11:128840004 Likely pathogenic Bartter disease type 2 Criteria Provided
Single Submitter
 CA383246545 rs_1213764655

1 SubmittersRCV003989966
NM_153766.3(KCNJ1):c.770G>T (p.Ser257Ile) SNV
Germline		 Chr11:128839474 Likely pathogenic Bartter disease type 2 Criteria Provided
Single Submitter

2 SubmittersRCV004759732
NM_153766.3(KCNJ1):c.388G>T (p.Val130Leu) SNV
Germline		 Chr11:128839856 Likely pathogenic Bartter disease type 2 Criteria Provided
Single Submitter

2 SubmittersRCV004759733
NM_153766.3(KCNJ1):c.770G>A (p.Ser257Asn) SNV
Germline		 Chr11:128839474 Likely pathogenic Bartter disease type 2 Criteria Provided
Single Submitter

1 SubmittersRCV004787557
NM_153766.3(KCNJ1):c.731T>G (p.Ile244Ser) SNV
Germline		 Chr11:128839513 Likely pathogenic Bartter disease type 2 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005046412
NM_153766.3(KCNJ1):c.624T>A (p.Tyr208Ter) SNV
Germline		 Chr11:128839620 Likely pathogenic Bartter disease type 2 Criteria Provided
Single Submitter

1 SubmittersRCV005046418
NM_153766.3(KCNJ1):c.535G>T (p.Ala179Ser) SNV
Germline		 Chr11:128839709 Likely pathogenic Bartter disease type 2 Criteria Provided
Single Submitter

1 SubmittersRCV005046420
NM_153766.3(KCNJ1):c.499A>G (p.Lys167Glu) SNV
Germline		 Chr11:128839745 Likely pathogenic Bartter disease type 2 Criteria Provided
Single Submitter

1 SubmittersRCV005046422
NM_153766.3(KCNJ1):c.308T>A (p.Val103Glu) SNV
Germline		 Chr11:128839936 Likely pathogenic Bartter disease type 2 Criteria Provided
Single Submitter

1 SubmittersRCV005050034
NM_153766.3(KCNJ1):c.227T>C (p.Phe76Ser) SNV
Germline		 Chr11:128840017 Likely pathogenic Bartter disease type 2 Criteria Provided
Single Submitter

1 SubmittersRCV005050036
NM_153766.3(KCNJ1):c.219G>A (p.Trp73Ter) SNV
Germline		 Chr11:128840025 Likely pathogenic Bartter disease type 2 Criteria Provided
Single Submitter

1 SubmittersRCV005046430