| - GRCh37:
- Chr11:128709667
- GRCh38:
- Chr11:128839772
| KCNJ1 | A158T, A175T, A177T | Bartter syndrome | Likely pathogenic
(May 9, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:48580329
- GRCh38:
- Chr15:48288132
| SLC12A1 | E907fs | Bartter syndrome | Likely pathogenic
(Mar 3, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:128710084-128710133
- GRCh38:
- Chr11:128840189-128840238
| KCNJ1 | F19fs, F21fs, F2fs | Bartter syndrome | Likely pathogenic
(Feb 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:16378220
- GRCh38:
- Chr1:16051725
| CLCNKB, LOC106501713 | R269H, R438H | Bartter syndrome, not provided | Pathogenic
(Jun 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:48580351
- GRCh38:
- Chr15:48288154
| SLC12A1 | W914* | Bartter syndrome | Likely pathogenic
(Dec 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:48512830
- GRCh38:
- Chr15:48220633
| SLC12A1 | | Bartter syndrome | Likely pathogenic
(Nov 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:128709265
- GRCh38:
- Chr11:128839370
| KCNJ1 | R292W, R309W, R311W | Bartter syndrome | Pathogenic
(Nov 3, 2022) | criteria provided, single submitter |
| | | | Familial hypokalemia-hypomagnesemia | Pathogenic
(Dec 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:48541770
- GRCh38:
- Chr15:48249573
| SLC12A1 | | Inborn genetic diseases, Bartter syndrome | Conflicting interpretations of pathogenicity
(May 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:128709252
- GRCh38:
- Chr11:128839357
| KCNJ1 | V296G, V313G, V315G | Bartter syndrome | Pathogenic
(Apr 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464956
- GRCh38:
- Chr1:54999283
| BSND | V33L | Bartter syndrome, Bartter disease type 4A | Pathogenic/Likely pathogenic
(Feb 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55474101
- GRCh38:
- Chr1:55008428
| BSND | E255Q | Bartter disease type 4A, not provided | Uncertain significance
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55472808
- GRCh38:
- Chr1:55007135
| BSND | | Bartter disease type 4A, not provided | Likely benign
(Apr 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55472943
- GRCh38:
- Chr1:55007270
| BSND | | not provided, Bartter disease type 4A | Likely benign
(Sep 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55474253
- GRCh38:
- Chr1:55008580
| BSND | D305E | Bartter syndrome | Uncertain significance
(Aug 13, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr1:55470731
- GRCh38:
- Chr1:55005058
| BSND | I72F | Bartter syndrome | Uncertain significance
(Aug 14, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr1:55464886
- GRCh38:
- Chr1:54999213
| BSND | | not provided | Likely benign
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:56914084
- GRCh38:
- Chr16:56880172
| SLC12A3 | G495C, G496C | not provided | Uncertain significance
(Nov 25, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:56913496
- GRCh38:
- Chr16:56879584
| SLC12A3 | G459S, G460S | Bartter syndrome, Familial hypokalemia-hypomagnesemia | Uncertain significance
(Jan 8, 2019) | no assertion criteria provided |
| | SLC12A3 | | Bartter syndrome, Familial hypokalemia-hypomagnesemia | Pathogenic
(Oct 27, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr16:56921865
- GRCh38:
- Chr16:56887953
| SLC12A3 | N735I, N736I | Bartter syndrome, Familial hypokalemia-hypomagnesemia | Uncertain significance
(May 29, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr16:56916376
- GRCh38:
- Chr16:56882464
| SLC12A3 | S545G, S546G | not provided | Pathogenic
(Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:56901126
- GRCh38:
- Chr16:56867214
| SLC12A3 | M142V, M143V | Bartter syndrome, Familial hypokalemia-hypomagnesemia | Uncertain significance
(Jan 25, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr15:48548035
- GRCh38:
- Chr15:48255838
| SLC12A1 | A657V | Bartter syndrome, Familial hypokalemia-hypomagnesemia | Uncertain significance
(May 29, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr3:122003511
- GRCh38:
- Chr3:122284664
| CASR | G904R, G914R | Bartter syndrome, Familial hypokalemia-hypomagnesemia | Uncertain significance
(May 29, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr15:48513175
- GRCh38:
- Chr15:48220978
| SLC12A1, CTXN2-AS1 | V204F | Bartter syndrome, Familial hypokalemia-hypomagnesemia | Uncertain significance
(Nov 15, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr1:55472684
- GRCh38:
- Chr1:55007011
| BSND | P96L | Bartter disease type 4A, not specified | Uncertain significance
(Feb 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55472790
- GRCh38:
- Chr1:55007117
| BSND | L131F | not provided, Bartter disease type 4A, not specified
| Uncertain significance
(Aug 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:128709538
- GRCh38:
- Chr11:128839643
| KCNJ1 | L218F, L220F, L201F | Bartter syndrome, not provided, Bartter disease type 2
| Conflicting interpretations of pathogenicity
(Oct 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:55470790
- GRCh38:
- Chr1:55005117
| BSND | | Bartter disease type 4A, not provided | Likely pathogenic
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:56947276
- GRCh38:
- Chr16:56913364
| LOC126862361, SLC12A3 | R1009*, R1017*, R1018* | not provided, Familial hypokalemia-hypomagnesemia | Pathogenic
(Jul 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:56913118
- GRCh38:
- Chr16:56879206
| SLC12A3 | Y437*, Y438* | not provided | Pathogenic
(Nov 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:56899166-56899167
- GRCh38:
- Chr16:56865254-56865255
| SLC12A3 | T7fs | Familial hypokalemia-hypomagnesemia, not provided | Pathogenic/Likely pathogenic
(May 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55470754
- GRCh38:
- Chr1:55005081
| BSND | | not provided | Benign
(Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464868
- GRCh38:
- Chr1:54999195
| BSND | | not provided, Bartter disease type 4A | Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55472814
- GRCh38:
- Chr1:55007141
| BSND | | not provided | Likely benign
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55474181
- GRCh38:
- Chr1:55008508
| BSND | | not provided | Likely benign
(Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464985
- GRCh38:
- Chr1:54999312
| BSND | | not provided | Likely benign
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55472790
- GRCh38:
- Chr1:55007117
| BSND | | not provided | Likely benign
(Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55472944
- GRCh38:
- Chr1:55007271
| BSND | G183S | not provided, Bartter disease type 4A | Conflicting interpretations of pathogenicity
(Oct 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:55464928
- GRCh38:
- Chr1:54999255
| BSND | | not provided | Likely benign
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55465000
- GRCh38:
- Chr1:54999327
| BSND | | not provided | Benign
(Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55474247
- GRCh38:
- Chr1:55008574
| BSND | | not provided | Likely benign
(Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464869
- GRCh38:
- Chr1:54999196
| BSND | E4K | not provided, not specified, Bartter disease type 4A
| Uncertain significance
(Feb 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55470742
- GRCh38:
- Chr1:55005069
| BSND | | not provided, not specified, Bartter disease type 4A
| Likely benign
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55474180
- GRCh38:
- Chr1:55008507
| BSND | S281L | Inborn genetic diseases, not specified | Conflicting interpretations of pathogenicity
(Jun 11, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:128709984
- GRCh38:
- Chr11:128840089
| KCNJ1 | T52M, T71M, T69M | not provided, Bartter syndrome, Bartter disease type 2
| Conflicting interpretations of pathogenicity
(Mar 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:55472924
- GRCh38:
- Chr1:55007251
| BSND | R176H | Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:55474053
- GRCh38:
- Chr1:55008380
| BSND | Q239* | not provided, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Sep 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:56947189
- GRCh38:
- Chr16:56913277
| LOC126862361, SLC12A3 | G989R, G988R, G980R | not provided, Familial hypokalemia-hypomagnesemia | Pathogenic/Likely pathogenic
(Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:56913119
- GRCh38:
- Chr16:56879207
| SLC12A3 | G439S, G438S | not provided, Familial hypokalemia-hypomagnesemia | Pathogenic
(Aug 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55474108
- GRCh38:
- Chr1:55008435
| BSND | Q257R | not specified, Bartter disease type 4A, not provided
| Uncertain significance
(Aug 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55474197
- GRCh38:
- Chr1:55008524
| BSND | E287* | not specified, Inborn genetic diseases, not provided,
Bartter disease type 4A | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:56903640
- GRCh38:
- Chr16:56869728
| SLC12A3 | | not provided, Familial hypokalemia-hypomagnesemia | Pathogenic
(Apr 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55473910
- GRCh38:
- Chr1:55008237
| BSND | P191L | not provided | Uncertain significance
(Jun 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:56920278
- GRCh38:
- Chr16:56886366
| SLC12A3 | P643L, P642L | not provided, Familial hypokalemia-hypomagnesemia | Pathogenic/Likely pathogenic
(May 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:56936421
- GRCh38:
- Chr16:56902509
| SLC12A3 | | not provided, Familial hypokalemia-hypomagnesemia | Pathogenic/Likely pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55474476
- GRCh38:
- Chr1:55008803
| BSND | | Bartter syndrome, not provided | Benign
(Nov 10, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:56938313
- GRCh38:
- Chr16:56904401
| SLC12A3 | R964W, R955W, R963W | not provided, Familial hypokalemia-hypomagnesemia | Conflicting interpretations of pathogenicity
(Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:55474034
- GRCh38:
- Chr1:55008361
| BSND | | not provided, Bartter disease type 4A | Conflicting interpretations of pathogenicity
(Sep 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:55470733
- GRCh38:
- Chr1:55005060
| BSND | | not provided, Bartter disease type 4A | Conflicting interpretations of pathogenicity
(Oct 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:55464875
- GRCh38:
- Chr1:54999202
| BSND | T6A | not provided, Bartter disease type 4A | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:48522630
- GRCh38:
- Chr15:48230433
| SLC12A1 | R302Q | Bartter syndrome, not provided, Bartter disease type 1
| Conflicting interpretations of pathogenicity
(Dec 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:55472879
- GRCh38:
- Chr1:55007206
| BSND | A161V | Bartter disease type 4A, not specified | Uncertain significance
(Aug 23, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55472806
- GRCh38:
- Chr1:55007133
| BSND | G137R | not specified | Uncertain significance
(May 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55472706
- GRCh38:
- Chr1:55007033
| BSND | E103D | Inborn genetic diseases, not specified, Bartter disease type 4A,
not provided | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:55464961
- GRCh38:
- Chr1:54999288
| BSND | | not specified, not provided, Bartter disease type 4A
| Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:55474231
- GRCh38:
- Chr1:55008558
| BSND | G298E | not provided, Bartter disease type 4A | Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:56921879
- GRCh38:
- Chr16:56887967
| SLC12A3 | G741R, G740R | Muscle weakness, Myalgia, Hypokalemia,
Hypermagnesemia, SLC12A3-related condition, not provided,
Familial hypokalemia-hypomagnesemia | Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:55474082
- GRCh38:
- Chr1:55008409
| BSND | | not provided | Conflicting interpretations of pathogenicity
(Aug 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:55474210
- GRCh38:
- Chr1:55008537
| BSND | E291G | not specified, not provided, Bartter disease type 4A
| Uncertain significance
(May 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55474262
- GRCh38:
- Chr1:55008589
| BSND | | not specified, not provided, Bartter disease type 4A
| Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55464922
- GRCh38:
- Chr1:54999249
| BSND | | not specified, not provided, Bartter disease type 4A
| Benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55470706
- GRCh38:
- Chr1:55005033
| BSND | | not specified, not provided, Bartter disease type 4A
| Benign/Likely benign
(Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55464986
- GRCh38:
- Chr1:54999313
| BSND | V43I | not specified, not provided, Bartter disease type 4A
| Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:48543967
- GRCh38:
- Chr15:48251770
| LOC126862123, SLC12A1 | D648N | Bartter syndrome, Familial hypokalemia-hypomagnesemia, Bartter disease type 1
| Conflicting interpretations of pathogenicity
(Nov 15, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr16:56920314
- GRCh38:
- Chr16:56886402
| SLC12A3 | R655H, R654H | not provided, Familial hypokalemia-hypomagnesemia | Pathogenic/Likely pathogenic
(Oct 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55464894
- GRCh38:
- Chr1:54999221
| BSND | I12T | Bartter syndrome, not provided, Bartter disease type 4A
| Conflicting interpretations of pathogenicity
(Aug 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:55464998
- GRCh38:
- Chr1:54999325
| BSND | G47R | not provided, Bartter disease type 4A | Pathogenic
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55464887
- GRCh38:
- Chr1:54999214
| BSND | G10S | Bartter syndrome | Pathogenic
(Jun 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55464862
- GRCh38:
- Chr1:54999189
| BSND | M1I | not provided, Bartter disease type 4A | Pathogenic/Likely pathogenic
(Apr 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55464881
- GRCh38:
- Chr1:54999208
| BSND | R8W | Bartter syndrome, not provided | Pathogenic/Likely pathogenic
(Nov 7, 2022) | criteria provided, multiple submitters, no conflicts |