Total 346 pathogenic variants reported for Familial hypokalemia-hypomagnesemia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) SNV
Germline
Chr16:56894558 Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
SLC12A3-related disorder
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA250046 rs_121909379

13 SubmittersRCV000009115RCV000805008RCV003421914RCV002512930

NM_001126108.2(SLC12A3):c.1261T>C (p.Cys421Arg) SNV
Germline
Chr16:56879153 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Single Submitter
CA119766 rs_28936387

3 SubmittersRCV001224839RCV000009116

NM_001126108.2(SLC12A3):c.625C>T (p.Arg209Trp) SNV
Germline
Chr16:56870119 Pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA119768 rs_28936388

5 SubmittersRCV000009117RCV001381397

NM_001126108.2(SLC12A3):c.1926-1G>T SNV
Germline
Chr16:56886363 Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8069666 rs_755560627

5 SubmittersRCV000009118RCV001061253

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

13 SubmittersRCV000009119RCV000518052RCV001328221

NM_001126108.2(SLC12A3):c.1964G>T (p.Arg655Leu) SNV
Germline
Chr16:56886402 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA119772 rs_121909380

2 SubmittersRCV000009120

NM_001126108.2(SLC12A3):c.2720+1G>T SNV
Germline
Chr16:56899617 Pathogenic Familial hypokalemia-hypomagnesemia No Assertion Criteria Provided
CA395999424 rs_1347239469

1 SubmittersRCV000009121

NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val) SNV
Germline
Chr16:56884142 Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA119774 rs_121909382

7 SubmittersRCV000009122RCV001046660

NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu) SNV
Germline
Chr16:56872737 Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Renal tubular acidosis
Criteria Provided
Multiple Submitters
No Conflicts
CA119776 rs_121909383

5 SubmittersRCV000009123RCV000820759RCV005624681

NM_001126108.2(SLC12A3):c.1889G>T (p.Gly630Val) SNV
Germline
Chr16:56885328 Pathogenic Familial hypokalemia-hypomagnesemia No Assertion Criteria Provided
CA119778 rs_121909384

1 SubmittersRCV000009125

NM_001126108.2(SLC12A3):c.1868T>C (p.Leu623Pro) SNV
Germline
Chr16:56885307 Pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA119780 rs_121909385

7 SubmittersRCV000009126RCV001210434

NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met) SNV
Germline
Chr16:56868355 Pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA031919 rs_267607050

8 SubmittersRCV001807148RCV001221896

NM_001126108.2(SLC12A3):c.2585G>A (p.Arg862His) SNV
Germline
Chr16:56894594 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA032037 rs_267607051

4 SubmittersRCV004796127RCV005431570RCV002518412

NM_001126108.2(SLC12A3):c.1189G>A (p.Val397Met) SNV
Germline
Chr16:56879081 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA216088 rs_387907472

4 SubmittersRCV000054600RCV002504952RCV002515739

NM_001126108.2(SLC12A3):c.2310C>T (p.Gly770=) SNV
Germline
Chr16:56890298 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA216096 rs_375542454

5 SubmittersRCV000054604RCV000388724

NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met) SNV
Germline
Chr16:56865414 Pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA150734 rs_371443644

14 SubmittersRCV000087747RCV000489628

NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) SNV
Germline
Chr6:73621883 Conflicting classifications of pathogenicity Condition: not provided
Salla disease
Sialic acid storage disease, severe infantile type
Salla disease
Familial hypokalemia-hypomagnesemia
Inborn genetic diseases
Sialic acid storage disease, severe infantile type
Enhanced S-cone syndrome
Criteria Provided
Conflicting Classifications
CA236266 rs_142553916

14 SubmittersRCV000171400RCV001082286RCV000764656RCV002284193RCV002515239RCV001162237RCV004813072

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

26 SubmittersRCV000190624RCV000255367RCV000626663RCV001328096RCV003401040RCV004017477

NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro) SNV
Germline
Chr16:56870699 Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA250393 rs_568513106

7 SubmittersRCV000191129RCV000681951

NM_001126108.2(SLC12A3):c.1216A>C (p.Asn406His) SNV
Germline
Chr16:56879108 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069403 rs_759532318

3 SubmittersRCV000490283RCV002515599

NM_001126108.2(SLC12A3):c.1732G>A (p.Val578Met) SNV
Germline
Chr16:56884111 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
SLC12A3-related disorder
Criteria Provided
Conflicting Classifications
CA8069592 rs_139329616

6 SubmittersRCV000279337RCV000901287RCV003417765

NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His) SNV
Germline
Chr16:56894555 Pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8069962 rs_185927948

10 SubmittersRCV000490297RCV000713330

NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=) SNV
Germline
Chr16:56865484 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8068943 rs_76750525

6 SubmittersRCV000341271RCV000250431RCV000891297

NM_001126108.2(SLC12A3):c.1919A>G (p.Asn640Ser) SNV
Germline
Chr16:56885358 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA281505366 rs_886039754

5 SubmittersRCV000576776RCV003556306

NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg) SNV
Germline
Chr16:56865316 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8068907 rs_201850644

4 SubmittersRCV000328265RCV000963131

NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp) SNV
Germline
Chr16:56865482 Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8068941 rs_201255508

8 SubmittersRCV000380828RCV000809022

NM_001126108.2(SLC12A3):c.1125C>A (p.Thr375=) SNV
Germline
Chr16:56878106 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10638058 rs_761193208

2 SubmittersRCV000313622RCV002521053

NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg) SNV
Germline
Chr16:56879593 Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8069451 rs_374163823

8 SubmittersRCV000286818RCV000414425

NM_001126108.2(SLC12A3):c.1825+5G>A SNV
Germline
Chr16:56884209 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8069614 rs_368509876

6 SubmittersRCV000405772RCV000896914RCV002521055

NM_001126108.2(SLC12A3):c.1926-10C>G SNV
Germline
Chr16:56886354 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069663 rs_375828467

3 SubmittersRCV000310027RCV001514389

NM_001126108.2(SLC12A3):c.741+8C>T SNV
Germline
Chr16:56870243 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069167 rs_200257610

4 SubmittersRCV000298248RCV001498922

NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=) SNV
Germline
Chr16:56879176 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
SLC12A3-related disorder
Criteria Provided
Conflicting Classifications
CA8069411 rs_34216426

6 SubmittersRCV000269299RCV000898595RCV004745337

NM_001126108.2(SLC12A3):c.1774G>A (p.Ala592Thr) SNV
Germline
Chr16:56884153 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069600 rs_149644636

3 SubmittersRCV000350646RCV001486238

NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=) SNV
Germline
Chr16:56886418 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069679 rs_201519016

4 SubmittersRCV000305993RCV000932948

NM_001126108.2(SLC12A3):c.2160C>T (p.Gly720=) SNV
Germline
Chr16:56887075 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069752 rs_147984554

3 SubmittersRCV000265886RCV001492657

NM_001126108.2(SLC12A3):c.2244G>A (p.Ser748=) SNV
Germline
Chr16:56887990 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069798 rs_150633177

3 SubmittersRCV000259802RCV001463707

NM_001126108.2(SLC12A3):c.2578A>G (p.Lys860Glu) SNV
Germline
Chr16:56894587 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069970 rs_200253241

2 SubmittersRCV000349367RCV002061202

NM_001126108.2(SLC12A3):c.2987C>A (p.Thr996Asn) SNV
Germline
Chr16:56913326 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8070182 rs_201058248

2 SubmittersRCV000261759RCV002522874

NM_001126108.2(SLC12A3):c.422G>C (p.Gly141Ala) SNV
Germline
Chr16:56867209 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069010 rs_146854174

3 SubmittersRCV000390731RCV004694281

NM_001126108.2(SLC12A3):c.1176C>A (p.Thr392=) SNV
Germline
Chr16:56878157 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069367 rs_117440321

3 SubmittersRCV000368345RCV001490630

NM_001126108.2(SLC12A3):c.1314C>T (p.Tyr438=) SNV
Germline
Chr16:56879206 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069418 rs_776210036

3 SubmittersRCV000326577RCV001405196

NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=) SNV
Germline
Chr16:56879592 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069450 rs_142199602

6 SubmittersRCV000378908RCV000917794

NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=) SNV
Germline
Chr16:56902445 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8070059 rs_13306666

5 SubmittersRCV000308439RCV000926245

NM_001126108.2(SLC12A3):c.*576C>G SNV
Germline
Chr16:56913981 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10647828 rs_139828223

3 SubmittersRCV000299747RCV003418007

NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=) SNV
Germline
Chr16:56865271 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA8068894 rs_117987946

7 SubmittersRCV000291919RCV000885797RCV001701851

NM_001126108.2(SLC12A3):c.1249G>A (p.Glu417Lys) SNV
Germline
Chr16:56879141 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069407 rs_368455032

4 SubmittersRCV000366193RCV001401125

NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His) SNV
Germline
Chr16:56885364 Pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8069652 rs_147901432

9 SubmittersRCV000362354RCV000993002

NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=) SNV
Germline
Chr16:56886406 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069676 rs_150378634

5 SubmittersRCV000267192RCV000924763

NM_001126108.2(SLC12A3):c.2490C>T (p.Thr830=) SNV
Germline
Chr16:56893023 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069928 rs_539069621

3 SubmittersRCV000296678RCV001500964

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/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Bartter syndrome
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8070077 rs_199974259

19 SubmittersRCV000412851RCV001271445RCV001328169

NM_001126108.2(SLC12A3):c.1196G>T (p.Arg399Leu) SNV
Germline
Chr16:56879088 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069399 rs_13306668

4 SubmittersRCV000439274RCV000762973

NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly) SNV
Germline
Chr16:56885363 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069650 rs_200697179

10 SubmittersRCV001239291RCV000449562

NM_001126108.2(SLC12A3):c.1276A>T (p.Asn426Tyr) SNV
Germline
Chr16:56879168 Pathogenic Familial hypokalemia-hypomagnesemia No Assertion Criteria Provided
CA16609823 rs_200817545

1 SubmittersRCV000454555

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

21 SubmittersRCV000477915RCV000681948RCV001328101RCV004023099

NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) SNV
Germline
Chr16:56904402 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA8070132 rs_202114767

13 SubmittersRCV000681947RCV000477802RCV002525742

NM_001126108.2(SLC12A3):c.460A>T (p.Ile154Phe) SNV
Germline
Chr16:56868327 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8069045 rs_748547209

3 SubmittersRCV000493117RCV002506193

NM_001126108.2(SLC12A3):c.1180+1G>T SNV
Germline
Chr16:56878162 Pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8069368 rs_749098014

16 SubmittersRCV000501643RCV000681791

NM_001126108.2(SLC12A3):c.2554C>T (p.Arg852Cys) SNV
Germline
Chr16:56894563 Pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8069966 rs_373899077

11 SubmittersRCV000504824RCV000823519

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_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) SNV
Germline
Chr16:56872436 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
SLC12A3-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA8069267 rs_140551719

8 SubmittersRCV000516845RCV001274377RCV003409740

NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys) SNV
Germline
Chr16:56879087 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069396 rs_775931992

10 SubmittersRCV000517680RCV000762972

NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr) SNV
Germline
Chr16:56913293 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8070172 rs_199849117

12 SubmittersRCV000517299RCV001271446

NM_001126108.2(SLC12A3):c.2495A>G (p.Asp832Gly) SNV
Germline
Chr16:56893028 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395996336 rs_1555501437

2 SubmittersRCV000576426RCV002526929

NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) SNV
Germline
Chr16:56872656 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
not specified
Inborn genetic diseases
SLC12A3-related disorder
Criteria Provided
Conflicting Classifications
CA8069291 rs_142679083

13 SubmittersRCV000591358RCV000989608RCV003488715RCV004024751RCV003935605

NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) SNV
Germline
Chr16:56867150 Conflicting classifications of pathogenicity not specified
Condition: not provided
Familial hypokalemia-hypomagnesemia
Inborn genetic diseases
SLC12A3-related disorder
Criteria Provided
Conflicting Classifications
CA8068995 rs_146632606

14 SubmittersRCV000607947RCV000681735RCV000778470RCV002529351RCV003424170

NM_001126108.2(SLC12A3):c.271T>C (p.Ser91Pro) SNV
Germline
Chr16:56865506 Likely pathogenic Familial hypokalemia-hypomagnesemia No Assertion Criteria Provided
CA395977818 rs_1555499151

1 SubmittersRCV000625612

NM_001126108.2(SLC12A3):c.457G>A (p.Val153Met) SNV
Germline
Chr16:56868324 Conflicting classifications of pathogenicity Muscle weakness
Myalgia
Hypokalemia
Hypermagnesemia
Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8069044 rs_779074538

4 SubmittersRCV000626664RCV001860477RCV002289914

NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu) SNV
Germline
Chr16:56885283 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069642 rs_779160677

8 SubmittersRCV000681800RCV001807314

NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg) SNV
Germline
Chr16:56887937 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069791 rs_752101663

7 SubmittersRCV000681801RCV000762974

NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro) SNV
Germline
Chr16:56865272 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8068895 rs_147200024

10 SubmittersRCV000681930RCV001119951RCV004026174

NM_001126108.2(SLC12A3):c.557G>A (p.Gly186Asp) SNV
Germline
Chr16:56869780 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA281496657 rs_759426055

3 SubmittersRCV000681931RCV002245585

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
Familial aortopathy
SLC12A3-related disorder
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA8069419 rs_759377924

19 SubmittersRCV000713326RCV000760979RCV001328223RCV004544962RCV004745564RCV004026826

NM_001126108.2(SLC12A3):c.2505G>A (p.Trp835Ter) SNV
Germline
Chr16:56893038 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA395996381 rs_1366655422

4 SubmittersRCV000713328RCV005021116

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

14 SubmittersRCV000713331RCV000762975RCV001328220RCV004026827

NM_001126108.2(SLC12A3):c.3026G>A (p.Arg1009Gln) SNV
Germline
Chr16:56913365 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8070191 rs_370175770

5 SubmittersRCV000729474RCV001807339

NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln) SNV
Germline
Chr16:56865483 Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8068942 rs_768527231

9 SubmittersRCV000779192RCV001040338

NM_001126108.2(SLC12A3):c.404G>A (p.Arg135His) SNV
Germline
Chr16:56867191 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069007 rs_769047841

3 SubmittersRCV000778908RCV002535643

NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His) SNV
Germline
Chr16:56868301 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8069035 rs_374324018

7 SubmittersRCV000778471RCV001379908RCV002536732

NM_001126108.2(SLC12A3):c.1390G>A (p.Ala464Thr) SNV
Germline
Chr16:56879596 Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8069452 rs_201945662

5 SubmittersRCV000778472RCV001224209

NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met) SNV
Germline
Chr16:56886384 Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
SLC12A3-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA8069670 rs_145337602

8 SubmittersRCV000779193RCV000993003RCV004745583

NM_001126108.2(SLC12A3):c.509T>C (p.Leu170Pro) SNV
Germline
Chr16:56869732 Likely pathogenic Familial hypokalemia-hypomagnesemia No Assertion Criteria Provided
CA395980724 rs_1596890176

1 SubmittersRCV000786876

NM_001126108.2(SLC12A3):c.1406C>A (p.Ala469Asp) SNV
Germline
Chr16:56879612 Likely pathogenic Familial hypokalemia-hypomagnesemia No Assertion Criteria Provided
CA395987648 rs_139743444

1 SubmittersRCV000786873

NM_001126108.2(SLC12A3):c.268C>T (p.His90Tyr) SNV
Germline
Chr16:56865503 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Single Submitter
CA395977799 rs_1596883431

2 SubmittersRCV000809019RCV001825611

NM_001126108.2(SLC12A3):c.438C>A (p.Cys146Ter) SNV
Germline
Chr16:56868305 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069036 rs_751409326

2 SubmittersRCV000807657RCV002501092

NM_001126108.2(SLC12A3):c.473G>A (p.Arg158Gln) SNV
Germline
Chr16:56868340 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA395979550 rs_1274973729

8 SubmittersRCV000802180RCV001251514

NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys) SNV
Germline
Chr16:56869762 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069091 rs_146158333

6 SubmittersRCV000803323RCV001115368

NM_001126108.2(SLC12A3):c.1188C>A (p.Cys396Ter) SNV
Germline
Chr16:56879080 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069391 rs_747139582

3 SubmittersRCV000800647RCV002282370

NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn) SNV
Germline
Chr16:56880142 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069494 rs_753523115

6 SubmittersRCV000795994RCV001276374

NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) SNV
Germline
Chr16:56882492 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Inborn genetic diseases
SLC12A3-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA8069554 rs_148038173

15 SubmittersRCV000796506RCV001276376RCV002537028RCV004745590

NM_001126108.2(SLC12A3):c.283-2A>C SNV
Germline
Chr16:56867068 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA281492942 rs_377456965

2 SubmittersRCV000807034RCV005012339

NM_001126108.2(SLC12A3):c.1670-191C>T SNV
Germline
Chr16:56883858 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
SLC12A3-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA281504280 rs_374182921

13 SubmittersRCV000823626RCV001251115RCV003928288

NM_001126108.2(SLC12A3):c.2721-1G>A SNV
Germline
Chr16:56902372 Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA8070047 rs_761242621

5 SubmittersRCV000806887RCV001276383RCV002537234

NM_001126108.2(SLC12A3):c.966G>A (p.Ala322=) SNV
Germline
Chr16:56872657 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
not specified
Criteria Provided
Conflicting Classifications
CA8069292 rs_149172580

3 SubmittersRCV000972904RCV001274423RCV004782616

NM_001126108.2(SLC12A3):c.928G>A (p.Glu310Lys) SNV
Germline
Chr16:56872426 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
SLC12A3-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA8069264 rs_146834675

8 SubmittersRCV000885798RCV001118512RCV004746129RCV004997465

NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val) SNV
Germline
Chr16:56880247 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
SLC12A3-related disorder
Criteria Provided
Conflicting Classifications
CA8069517 rs_147046379

6 SubmittersRCV000884094RCV001274425RCV004746127

NM_001126108.2(SLC12A3):c.2028C>T (p.His676=) SNV
Germline
Chr16:56886466 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8069687 rs_35070204

4 SubmittersRCV000900444RCV001120156

NM_001126108.2(SLC12A3):c.2082C>T (p.Asn694=) SNV
Germline
Chr16:56886997 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8069732 rs_370145822

4 SubmittersRCV000897625RCV001120157

NM_001126108.2(SLC12A3):c.1833T>C (p.Asn611=) SNV
Germline
Chr16:56885272 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8069640 rs_368198835

3 SubmittersRCV000919438RCV001274427

NM_001126108.2(SLC12A3):c.1568-4G>A SNV
Germline
Chr16:56882392 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8069537 rs_374303576

3 SubmittersRCV000917750RCV002540930RCV005012394

NM_001126108.2(SLC12A3):c.1698C>A (p.Asn566Lys) SNV
Germline
Chr16:56884077 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8069579 rs_757776621

3 SubmittersRCV000942075RCV001826995

NM_001126108.2(SLC12A3):c.1180+10C>T SNV
Germline
Chr16:56878171 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8069369 rs_368574873

4 SubmittersRCV000966344RCV001120041

NM_001126108.2(SLC12A3):c.2857-7C>T SNV
Germline
Chr16:56904388 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8070127 rs_745327566

3 SubmittersRCV000982261RCV001120240

NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp) SNV
Germline
Chr16:56868339 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA395979548 rs_1041531529

4 SubmittersRCV000993006RCV001832310

NM_001126108.2(SLC12A3):c.626G>A (p.Arg209Gln) SNV
Germline
Chr16:56870120 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Inborn genetic diseases
SLC12A3-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA8069131 rs_758035631

8 SubmittersRCV000993007RCV001807374RCV002549824RCV003413782

NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu) SNV
Germline
Chr16:56872740 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8069307 rs_778585043

5 SubmittersRCV000993001RCV001832309

NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln) SNV
Germline
Chr16:56899556 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8070010 rs_369360334

8 SubmittersRCV000993004RCV001276382

NM_001126108.2(SLC12A3):c.55C>T (p.Arg19Cys) SNV
Germline
Chr16:56865290 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA8068902 rs_374055486

1 SubmittersRCV001004939

NM_001126108.2(SLC12A3):c.184G>A (p.Asp62Asn) SNV
Germline
Chr16:56865419 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA395977137 rs_757490496

4 SubmittersRCV001046841RCV001807378

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

2 SubmittersRCV001035507RCV001328171

NM_001126108.2(SLC12A3):c.1489A>T (p.Lys497Ter) SNV
Germline
Chr16:56880175 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069500 rs_746818109

3 SubmittersRCV001056876RCV001276375

NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys) SNV
Germline
Chr16:56886401 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069673 rs_747249619

7 SubmittersRCV001042994RCV001281278

NM_001126108.2(SLC12A3):c.2029G>A (p.Val677Met) SNV
Germline
Chr16:56886467 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069689 rs_771326058

4 SubmittersRCV001067249RCV001827438

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

7 SubmittersRCV001036419RCV001328173RCV001813809

NM_001126108.2(SLC12A3):c.308T>C (p.Leu103Pro) SNV
Germline
Chr16:56867095 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8068982 rs_747197324

3 SubmittersRCV001121942RCV001445380

NM_001126108.2(SLC12A3):c.975T>C (p.Phe325=) SNV
Germline
Chr16:56872666 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA495603334 rs_1335054266

2 SubmittersRCV001118513RCV002069917

NM_001126108.2(SLC12A3):c.1017C>T (p.Thr339=) SNV
Germline
Chr16:56872708 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA495603443 rs_1159677951

2 SubmittersRCV001118514RCV002069918

NM_001126108.2(SLC12A3):c.1075A>G (p.Asn359Asp) SNV
Germline
Chr16:56872766 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069313 rs_781030242

5 SubmittersRCV001118516RCV001776118

NM_001126108.2(SLC12A3):c.1545C>T (p.Ile515=) SNV
Germline
Chr16:56880231 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069513 rs_764801122

3 SubmittersRCV001115449RCV001483463

NM_001126108.2(SLC12A3):c.2253G>A (p.Pro751=) SNV
Germline
Chr16:56887999 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069801 rs_776382586

4 SubmittersRCV001115545RCV001414065

NM_001126108.2(SLC12A3):c.2413G>A (p.Ala805Thr) SNV
Germline
Chr16:56892127 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069882 rs_758304056

5 SubmittersRCV001115547RCV004671225RCV001503745

NM_001126108.2(SLC12A3):c.2563A>C (p.Arg855=) SNV
Germline
Chr16:56894572 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA495612757 rs_191194366

3 SubmittersRCV001116971RCV001406118

NM_001126108.2(SLC12A3):c.430-13C>T SNV
Germline
Chr16:56868284 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069028 rs_773727087

2 SubmittersRCV001115366RCV003574830

NM_001126108.2(SLC12A3):c.430-12C>T SNV
Germline
Chr16:56868285 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069029 rs_759198908

2 SubmittersRCV001115367RCV003574831

NM_001126108.2(SLC12A3):c.853-12C>T SNV
Germline
Chr16:56872339 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069249 rs_376908568

2 SubmittersRCV001118511RCV002556519

NM_001126108.2(SLC12A3):c.1567+7C>T SNV
Germline
Chr16:56880260 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069522 rs_376819753

3 SubmittersRCV001115450RCV001517360

NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met) SNV
Germline
Chr16:56878126 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8069360 rs_187885782

6 SubmittersRCV001223584RCV001536124

NM_001126108.2(SLC12A3):c.1924C>T (p.Arg642Cys) SNV
Germline
Chr16:56885363 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069651 rs_200697179

6 SubmittersRCV001215299RCV001833878

NM_001126108.2(SLC12A3):c.482G>A (p.Trp161Ter) SNV
Germline
Chr16:56868349 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069055 rs_201190064

5 SubmittersRCV001208463RCV001807392

NM_001126108.2(SLC12A3):c.644T>C (p.Leu215Pro) SNV
Germline
Chr16:56870138 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069135 rs_780594361

5 SubmittersRCV001206570RCV001828656

NM_001126108.2(SLC12A3):c.1077C>G (p.Asn359Lys) SNV
Germline
Chr16:56872768 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA281498273 rs_181865675

3 SubmittersRCV001213207RCV001833866

NM_001126108.2(SLC12A3):c.2842A>T (p.Lys948Ter) SNV
Germline
Chr16:56902494 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA396001534 rs_1244866304

5 SubmittersRCV001201916RCV001807391

NM_001126108.2(SLC12A3):c.2633+1G>A SNV
Germline
Chr16:56894643 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069988 rs_778455414

6 SubmittersRCV001204837RCV001833800

NM_001126108.2(SLC12A3):c.2037+1G>A SNV
Germline
Chr16:56886476 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069693 rs_775799617

5 SubmittersRCV001222819RCV001833931

NM_001126108.2(SLC12A3):c.741+1G>A SNV
Germline
Chr16:56870236 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA395982098 rs_1187506921

4 SubmittersRCV001231978RCV001828849

NM_001126108.2(SLC12A3):c.964+1G>T SNV
Germline
Chr16:56872463 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA395983513 rs_1596895536

2 SubmittersRCV001233053RCV002245892

NM_001126108.2(SLC12A3):c.1096-2A>G SNV
Germline
Chr16:56878075 Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Single Submitter
CA395984651 rs_2055189357

2 SubmittersRCV001228340RCV001833973

NM_001126108.2(SLC12A3):c.852+1G>A SNV
Germline
Chr16:56870737 Pathogenic/Likely pathogenic Inborn genetic diseases
Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA395982331 rs_2055084531

5 SubmittersRCV001267119RCV001880133RCV001830070

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_001126108.2(SLC12A3):c.1180G>A (p.Gly394Ser) SNV
Germline
Chr16:56878161 Likely pathogenic Familial hypokalemia-hypomagnesemia No Assertion Criteria Provided
CA395985241 rs_2055190908

1 SubmittersRCV001280859

NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val) SNV
Germline
Chr16:56887932 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069788 rs_373901523

9 SubmittersRCV001288429RCV001807395

NM_001126108.2(SLC12A3):c.2817G>A (p.Trp939Ter) SNV
Germline
Chr16:56902469 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA396001427 rs_760134110

4 SubmittersRCV001288431RCV001807396

NM_001126108.2(SLC12A3):c.2516A>T (p.Asp839Val) SNV
Germline
Chr16:56893049 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395996459 rs_1467657889

3 SubmittersRCV001310259RCV003770625

NM_001126108.2(SLC12A3):c.1181G>A (p.Gly394Asp) SNV
Germline
Chr16:56879073 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA8069390 rs_777815715

4 SubmittersRCV001310329RCV002286834RCV002545034

NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu) SNV
Germline
Chr16:56869756 Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8069089 rs_772589653

6 SubmittersRCV001329194RCV001388993

NM_001126108.2(SLC12A3):c.1925+1G>A SNV
Germline
Chr16:56885365 Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA395991744 rs_1401379546

4 SubmittersRCV001329193RCV001863199

NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys) SNV
Germline
Chr16:56867190 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8069005 rs_749742102

5 SubmittersRCV001379907RCV002550965RCV002499787

NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp) SNV
Germline
Chr16:56872459 Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
SLC12A3-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA8069270 rs_150046661

6 SubmittersRCV001379116RCV001831367RCV003918895

NM_001126108.2(SLC12A3):c.1567G>A (p.Ala523Thr) SNV
Germline
Chr16:56880253 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069519 rs_781137708

3 SubmittersRCV001378475RCV002504631

NM_001126108.2(SLC12A3):c.334G>T (p.Glu112Ter) SNV
Germline
Chr16:56867121 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA281493028 rs_200219778

4 SubmittersRCV001388991RCV001542489

NM_001126108.2(SLC12A3):c.911C>T (p.Thr304Met) SNV
Germline
Chr16:56872409 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069260 rs_755069436

4 SubmittersRCV001381398RCV001826158

NM_001126108.2(SLC12A3):c.1175C>T (p.Thr392Ile) SNV
Germline
Chr16:56878156 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069364 rs_748575829

3 SubmittersRCV001381399RCV002243171

NM_001126108.2(SLC12A3):c.2866C>T (p.Gln956Ter) SNV
Germline
Chr16:56904404 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8070133 rs_761692493

3 SubmittersRCV001389306RCV002493932

NM_001126108.2(SLC12A3):c.2902C>T (p.Arg968Ter) SNV
Germline
Chr16:56904440 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Single Submitter
CA8070141 rs_765609579

2 SubmittersRCV001389307RCV001826181

NM_001126108.2(SLC12A3):c.1361C>T (p.Ala454Val) SNV
Germline
Chr16:56879567 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8069443 rs_368783800

3 SubmittersRCV001469734RCV002561950RCV005014572

NM_001126108.2(SLC12A3):c.429+8G>A SNV
Germline
Chr16:56867224 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8069012 rs_764783539

2 SubmittersRCV001497629RCV005005941

NM_001126108.2(SLC12A3):c.1485C>A (p.Phe495Leu) SNV
Unknown
Chr16:56880171 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA395988096 rs_1297766065

1 SubmittersRCV001535886

NM_001126108.2(SLC12A3):c.505+5G>A SNV
Germline
Chr16:56868377 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA281493596 rs_751112698

2 SubmittersRCV001542490

NM_001126108.2(SLC12A3):c.1261T>G (p.Cys421Gly) SNV
Unknown
Chr16:56879153 Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA395985927 rs_28936387

2 SubmittersRCV001663810RCV002502009

NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg) SNV
Germline
Chr16:56869737 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069086 rs_757792232

5 SubmittersRCV001702309RCV002243433

NM_001126108.2(SLC12A3):c.2585G>C (p.Arg862Pro) SNV
Germline
Chr16:56894594 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Multiple Submitters
No Conflicts
CA395997540 rs_267607051

2 SubmittersRCV001730038

NM_001126108.2(SLC12A3):c.1967C>T (p.Pro656Leu) SNV
Germline
Chr16:56886405 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8069675 rs_140363569

5 SubmittersRCV001756535RCV002539875RCV004813182

NM_001126108.2(SLC12A3):c.2599G>A (p.Gly867Ser) SNV
Germline
Chr16:56894608 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8069978 rs_370301695

4 SubmittersRCV001756536RCV002243457

NM_001126108.2(SLC12A3):c.1844C>G (p.Ser615Trp) SNV
Germline
Chr16:56885283 Likely pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA281505305 rs_779160677

3 SubmittersRCV001801295RCV002541347

NM_001126108.2(SLC12A3):c.719A>G (p.Glu240Gly) SNV
Unknown
Chr16:56870213 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA395982059 rs_2144689801

1 SubmittersRCV001801303

NM_001126108.2(SLC12A3):c.2911G>A (p.Ala971Thr) SNV
Germline
Chr16:56904449 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA396002528 rs_2144772485

1 SubmittersRCV001804220

NM_001126108.2(SLC12A3):c.1465T>C (p.Tyr489His) SNV
Germline
Chr16:56880151 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA395988006 rs_2144714194

1 SubmittersRCV001805746

NM_001126108.2(SLC12A3):c.2659C>T (p.Arg887Ter) SNV
Germline
Chr16:56899555 Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Multiple Submitters
No Conflicts
CA281516341 rs_747383768

2 SubmittersRCV001823449

NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro) SNV
Germline
Chr4:1004299 Pathogenic/Likely pathogenic Hurler syndrome
Mucopolysaccharidosis type 1
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA355965948 rs_2153023287

4 SubmittersRCV001824223RCV001869832RCV004542135

NM_001126108.2(SLC12A3):c.2420-2A>G SNV
Germline
Chr16:56892951 Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069914 rs_776181500

2 SubmittersRCV001993549RCV005008327

NM_001126108.2(SLC12A3):c.910A>C (p.Thr304Pro) SNV
Germline
Chr16:56872408 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069259 rs_753840283

2 SubmittersRCV001941711RCV005006314

NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala) SNV
Germline
Chr16:56872445 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA395983440 rs_748920885

6 SubmittersRCV001941712RCV002497870

NM_001126108.2(SLC12A3):c.947G>T (p.Gly316Val) SNV
Germline
Chr16:56872445 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069269 rs_748920885

3 SubmittersRCV001939411RCV002290814

NM_001126108.2(SLC12A3):c.88G>T (p.Glu30Ter) SNV
Germline
Chr16:56865323 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8068909 rs_751675724

2 SubmittersRCV001888736RCV002503482

NM_001126108.2(SLC12A3):c.1742T>C (p.Met581Thr) SNV
Germline
Chr16:56884121 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8069593 rs_146191537

2 SubmittersRCV001963929RCV005016980

NM_001126108.2(SLC12A3):c.2515G>A (p.Asp839Asn) SNV
Germline
Chr16:56893048 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA395996447 rs_1298687889

3 SubmittersRCV002010744RCV002243505

NM_001126108.2(SLC12A3):c.1568-1G>A SNV
Germline
Chr16:56882395 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069538 rs_199511487

2 SubmittersRCV001927180RCV002243480

NM_001126108.2(SLC12A3):c.1288T>G (p.Cys430Gly) SNV
Germline
Chr16:56879180 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA395986127 rs_2144711663

3 SubmittersRCV001949662RCV004690200

NM_001126108.2(SLC12A3):c.1619A>G (p.Tyr540Cys) SNV
Germline
Chr16:56882447 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA395989085 rs_2144719500

3 SubmittersRCV001975147RCV005008308

NM_001126108.2(SLC12A3):c.2720+1G>C SNV
Germline
Chr16:56899617 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA395999417 rs_1347239469

2 SubmittersRCV001975151RCV002484810

NM_001126108.2(SLC12A3):c.626G>C (p.Arg209Pro) SNV
Germline
Chr16:56870120 Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069132 rs_758035631

2 SubmittersRCV002020283RCV002498026

NM_001126108.2(SLC12A3):c.1388G>A (p.Gly463Glu) SNV
Germline
Chr16:56879594 Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA395987546 rs_1375515522

3 SubmittersRCV001980278RCV002243499

NM_001126108.2(SLC12A3):c.602G>T (p.Gly201Val) SNV
Germline
Chr16:56870096 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA395981416 rs_2144689378

2 SubmittersRCV001938033RCV002243481

NM_001126108.2(SLC12A3):c.1620T>A (p.Tyr540Ter) SNV
Germline
Chr16:56882448 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA395989091 rs_2144719508

2 SubmittersRCV001993326RCV005016935

NM_001126108.2(SLC12A3):c.1601A>G (p.Asn534Ser) SNV
Germline
Chr16:56882429 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA281503336 rs_780433336

2 SubmittersRCV001976704RCV002492218

NM_001126108.2(SLC12A3):c.1335+1G>C SNV
Germline
Chr16:56879228 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069426 rs_757471117

2 SubmittersRCV002005817RCV005017010

NM_001126108.2(SLC12A3):c.1674G>A (p.Trp558Ter) SNV
Germline
Chr16:56884053 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA395990254 rs_2144723074

2 SubmittersRCV001970037RCV002507700

NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr) SNV
Germline
Chr16:56879154 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
SLC12A3-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA8069409 rs_781342495

4 SubmittersRCV001972830RCV003331251RCV003893019

NM_001126108.2(SLC12A3):c.2555G>A (p.Arg852His) SNV
Germline
Chr16:56894564 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069967 rs_751929135

3 SubmittersRCV001956268RCV003230719

NM_001126108.2(SLC12A3):c.3050C>T (p.Thr1017Ile) SNV
Germline
Chr16:56913389 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8070195 rs_769248531

2 SubmittersRCV001972834RCV005016957

NM_001126108.2(SLC12A3):c.1326C>G (p.Asn442Lys) SNV
Germline
Chr16:56879218 Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069421 rs_775232139

2 SubmittersRCV002019805RCV005017044

NM_001126108.2(SLC12A3):c.2213T>G (p.Leu738Arg) SNV
Germline
Chr16:56887959 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA395994675 rs_2144733006

3 SubmittersRCV001886034RCV002243478

NM_001126108.2(SLC12A3):c.2900C>T (p.Ser967Phe) SNV
Germline
Chr16:56904438 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8070139 rs_755475785

2 SubmittersRCV001959148RCV003314029

NM_001126108.2(SLC12A3):c.1196G>A (p.Arg399His) SNV
Germline
Chr16:56879088 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8069397 rs_13306668

2 SubmittersRCV002001456RCV003333198

NM_001126108.2(SLC12A3):c.964+1G>A SNV
Germline
Chr16:56872463 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA395983510 rs_1596895536

2 SubmittersRCV001890526RCV003323942

NM_001126108.2(SLC12A3):c.323G>A (p.Arg108Gln) SNV
Germline
Chr16:56867110 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8068986 rs_768537535

3 SubmittersRCV002123714RCV004046544RCV005017147

NM_001126108.2(SLC12A3):c.1A>G (p.Met1Val) SNV
Germline
Chr16:56865236 Pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA395975940 rs_1319085522

1 SubmittersRCV002245154

NM_001126108.2(SLC12A3):c.671C>A (p.Ala224Asp) SNV
Germline
Chr16:56870165 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia Criteria Provided
Conflicting Classifications
CA395981927 rs_1437937060

2 SubmittersRCV002245155

NM_001126108.2(SLC12A3):c.71C>T (p.Thr24Ile) SNV
Germline
Chr16:56865306 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA8068904 rs_759549058

1 SubmittersRCV002245158

NM_001126108.2(SLC12A3):c.1687C>T (p.Gln563Ter) SNV
Germline
Chr16:56884066 Pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA395990319 rs_2144723125

1 SubmittersRCV002245161

NM_001126108.2(SLC12A3):c.160C>T (p.Arg54Cys) SNV
Germline
Chr16:56865395 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia Criteria Provided
Conflicting Classifications
CA8068926 rs_774753302

2 SubmittersRCV002245162

NM_001126108.2(SLC12A3):c.2521G>C (p.Gly841Arg) SNV
Germline
Chr16:56893054 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA395996479 rs_769412145

1 SubmittersRCV002245163

NM_001126108.2(SLC12A3):c.2856G>A (p.Lys952=) SNV
Germline
Chr16:56902508 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA495613412 rs_2144767166

1 SubmittersRCV002245164

NM_001126108.2(SLC12A3):c.2872A>T (p.Arg958Trp) SNV
Germline
Chr16:56904410 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA396002276 rs_773428143

3 SubmittersRCV002245165RCV003365715

NM_001126108.2(SLC12A3):c.201T>A (p.Tyr67Ter) SNV
Germline
Chr16:56865436 Pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA395977255 rs_1227599828

1 SubmittersRCV002245168

NM_001126108.2(SLC12A3):c.2037+87A>G SNV
Germline
Chr16:56886562 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Multiple Submitters
No Conflicts
CA2224357289 rs_1456555803

2 SubmittersRCV002245169

NM_001126108.2(SLC12A3):c.2521+255G>A SNV
Germline
Chr16:56893309 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
SLC12A3-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA281513360 rs_1037430183

4 SubmittersRCV002245171RCV003933708RCV004587331

NM_001126108.2(SLC12A3):c.2721-2A>T SNV
Germline
Chr16:56902371 Pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA396000923 rs_2144766556

1 SubmittersRCV002245172

NM_001126108.2(SLC12A3):c.602-16G>A SNV
Germline
Chr16:56870080 Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8069127 rs_750901478

5 SubmittersRCV002245174RCV003560880

NM_001126108.2(SLC12A3):c.852+243C>T SNV
Germline
Chr16:56870979 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA722005958 rs_1384167696

1 SubmittersRCV002245175

NM_001126108.2(SLC12A3):c.2663T>C (p.Leu888Pro) SNV
Germline
Chr16:56899559 Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA281516346 rs_764833797

4 SubmittersRCV002245178RCV003560881

NM_001126108.2(SLC12A3):c.1095+4A>G SNV
Germline
Chr16:56872790 Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Multiple Submitters
No Conflicts
CA2573152453 rs_2144695925

2 SubmittersRCV002245181

NM_001126108.2(SLC12A3):c.602-11T>A SNV
Germline
Chr16:56870085 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA2224349257 rs_2055071198

1 SubmittersRCV002245187

NM_001126108.2(SLC12A3):c.2238G>A (p.Trp746Ter) SNV
Germline
Chr16:56887984 Pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA395994783 rs_2055341698

1 SubmittersRCV002283819

NM_001126108.2(SLC12A3):c.1452C>A (p.Cys484Ter) SNV
Germline
Chr16:56880138 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA395987942 rs_1028685823

1 SubmittersRCV002288428

NM_001126108.2(SLC12A3):c.185A>G (p.Asp62Gly) SNV
Germline
Chr16:56865420 Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA395977146 rs_1251732657

2 SubmittersRCV004796762RCV003064338

NM_001126108.2(SLC12A3):c.433C>T (p.Arg145Cys) SNV
Germline
Chr16:56868300 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069034 rs_148945966

2 SubmittersRCV003064339RCV005019587

NM_001126108.2(SLC12A3):c.1424C>G (p.Ser475Cys) SNV
Germline
Chr16:56879630 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069462 rs_373017321

3 SubmittersRCV003064344RCV005019588

NM_001126108.2(SLC12A3):c.1763C>A (p.Ala588Glu) SNV
Germline
Chr16:56884142 Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069597 rs_121909382

2 SubmittersRCV003064345RCV005010906

NM_001126108.2(SLC12A3):c.2129C>A (p.Ser710Ter) SNV
Germline
Chr16:56887044 Pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA8069742 rs_546999572

2 SubmittersRCV004796763RCV003041260

NM_001126108.2(SLC12A3):c.1764G>A (p.Ala588=) SNV
Germline
Chr16:56884143 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069598 rs_758685493

2 SubmittersRCV005010911RCV003066657

NM_001126108.2(SLC12A3):c.1400C>T (p.Ser467Phe) SNV
Germline
Chr16:56879606 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8069457 rs_142912565

2 SubmittersRCV003076401RCV005010926

NM_001126108.2(SLC12A3):c.2800C>T (p.Arg934Trp) SNV
Germline
Chr16:56902452 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8070062 rs_201721269

3 SubmittersRCV002654662RCV003988065

NM_001126108.2(SLC12A3):c.2369-2A>G SNV
Germline
Chr16:56892081 Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA281512363 rs_770038566

2 SubmittersRCV002675775RCV003324041

NM_001126108.2(SLC12A3):c.1000C>T (p.Arg334Trp) SNV
Germline
Chr16:56872691 Pathogenic/Likely pathogenic Condition: not provided
SLC12A3-related disorder
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8069295 rs_770702194

3 SubmittersRCV002933698RCV003403969RCV005019482

NM_001126108.2(SLC12A3):c.2522-18G>A SNV
Germline
Chr16:56894513 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8069955 rs_774278391

3 SubmittersRCV003441151RCV004779516

NM_001126108.2(SLC12A3):c.1067C>T (p.Ala356Val) SNV
Germline
Chr16:56872758 Pathogenic Familial hypokalemia-hypomagnesemia
SLC12A3-related disorder
Criteria Provided
Single Submitter
CA395983883 rs_1280772093

2 SubmittersRCV003322725RCV003966315

NM_001126108.2(SLC12A3):c.1837G>A (p.Gly613Ser) SNV
Germline
Chr16:56885276 Conflicting classifications of pathogenicity Condition: not provided
SLC12A3-related disorder
not specified
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA395991337 rs_1222807128

4 SubmittersRCV003325719RCV004723266RCV004765800RCV005012873

NM_001126108.2(SLC12A3):c.1443+1G>A SNV
Germline
Chr16:56879650 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA395987886 rs_2055211978

1 SubmittersRCV003388755

NM_001126108.2(SLC12A3):c.1782C>T (p.Gly594=) SNV
Germline
Chr16:56884161 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA495604576 rs_1412751721

2 SubmittersRCV003411357RCV005012954

NM_001126108.2(SLC12A3):c.3043G>A (p.Val1015Met) SNV
Germline
Chr16:56913382 Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA8070193 rs_775765261

2 SubmittersRCV003561846RCV005013024

NM_001126108.2(SLC12A3):c.1670-1G>T SNV
Germline
Chr16:56884048 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA395990236 rs_2055276585

2 SubmittersRCV003559916RCV005014775

NM_001126108.2(SLC12A3):c.676G>T (p.Ala226Ser) SNV
Germline
Chr16:56870170 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA395981948 rs_774753202

2 SubmittersRCV003563353RCV005014795

NM_001126108.2(SLC12A3):c.2721-6C>A SNV
Germline
Chr16:56902367 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8070046 rs_774002083

2 SubmittersRCV003670435RCV005013080

NM_001126108.2(SLC12A3):c.2864G>C (p.Arg955Pro) SNV
Germline
Chr16:56904402 Likely pathogenic Familial hypokalemia-hypomagnesemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA396002234 rs_202114767

2 SubmittersRCV005014835RCV003679658

NM_001126108.2(SLC12A3):c.2978G>A (p.Trp993Ter) SNV
Germline
Chr16:56913317 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA396005872 rs_1272158837

2 SubmittersRCV003683873RCV005014847

NM_001126108.2(SLC12A3):c.1703G>A (p.Trp568Ter) SNV
Germline
Chr16:56884082 Pathogenic/Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA395990396 rs_2543515354

2 SubmittersRCV003723891RCV005014858

NM_001126108.2(SLC12A3):c.2178+1G>A SNV
Germline
Chr16:56887094 Likely pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Multiple Submitters
No Conflicts
CA395994049 rs_2144730439

2 SubmittersRCV003692830RCV005013099

NM_001126108.2(SLC12A3):c.1095+1G>C SNV
Germline
Chr16:56872787 Pathogenic Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Single Submitter
CA395983941 rs_1310654829

2 SubmittersRCV003867818RCV005616830

NM_001126108.2(SLC12A3):c.1825+1G>C SNV
Germline
Chr16:56884205 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA395991133 rs_2543515886

1 SubmittersRCV003992088

NM_001126108.2(SLC12A3):c.689G>A (p.Gly230Asp) SNV
Germline
Chr16:56870183 Conflicting classifications of pathogenicity Inborn genetic diseases
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications
CA8069149 rs_375990084

2 SubmittersRCV004456243RCV005006402

NM_001126108.2(SLC12A3):c.2099T>C (p.Leu700Pro) SNV
Germline
Chr16:56887014 Pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Multiple Submitters
No Conflicts
CA395993782 rs_2543523215

2 SubmittersRCV004527202

NM_001126108.2(SLC12A3):c.2925-1G>A SNV
Germline
Chr16:56913263 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
CA396005504 rs_2543584461

1 SubmittersRCV004555441

NM_001126108.2(SLC12A3):c.1316G>T (p.Gly439Val) SNV
Germline
Chr16:56879208 Likely pathogenic Familial hypokalemia-hypomagnesemia No Assertion Criteria Provided
CA395986336 rs_1246053601

1 SubmittersRCV004556172

NM_001126108.2(SLC12A3):c.421G>A (p.Gly141Arg) SNV
Germline
Chr16:56867208 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
rs_1596886086

1 SubmittersRCV004577936

NM_001126108.2(SLC12A3):c.599C>G (p.Ser200Ter) SNV
Germline
Chr16:56869822 Pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter
rs_2543480089

1 SubmittersRCV004595091

NM_001126108.2(SLC12A3):c.1850A>G (p.Gln617Arg) SNV
Germline
Chr16:56885289 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004689521

NM_001126108.2(SLC12A3):c.2186G>C (p.Gly729Ala) SNV
Germline
Chr16:56887932 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004689526

NM_001126108.2(SLC12A3):c.1519C>T (p.Arg507Cys) SNV
Germline
Chr16:56880205 Conflicting classifications of pathogenicity Condition: not provided
Familial hypokalemia-hypomagnesemia
Criteria Provided
Conflicting Classifications

4 SubmittersRCV004698090RCV005006496

NM_001126108.2(SLC12A3):c.1406C>T (p.Ala469Val) SNV
Germline
Chr16:56879612 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia Criteria Provided
Conflicting Classifications

2 SubmittersRCV004764458

NM_001126108.2(SLC12A3):c.209A>G (p.Tyr70Cys) SNV
Germline
Chr16:56865444 Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia Criteria Provided
Conflicting Classifications

2 SubmittersRCV004797002

NM_001126108.2(SLC12A3):c.739C>T (p.Gln247Ter) SNV
Germline
Chr16:56870233 Pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV004813476

NM_001126108.2(SLC12A3):c.202G>T (p.Glu68Ter) SNV
Germline
Chr16:56865437 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV005015663

NM_001126108.2(SLC12A3):c.430-1G>A SNV
Germline
Chr16:56868296 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV005009869

NM_001126108.2(SLC12A3):c.658G>A (p.Gly220Ser) SNV
Germline
Chr16:56870152 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV005015671

NM_001126108.2(SLC12A3):c.1079T>C (p.Ile360Thr) SNV
Germline
Chr16:56872770 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV005009891

NM_001126108.2(SLC12A3):c.1124C>A (p.Thr375Asn) SNV
Germline
Chr16:56878105 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV005009893

NM_001126108.2(SLC12A3):c.1335G>C (p.Gln445His) SNV
Germline
Chr16:56879227 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV005015685

NM_001126108.2(SLC12A3):c.1573C>T (p.Leu525Phe) SNV
Germline
Chr16:56882401 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV005009907

NM_001126108.2(SLC12A3):c.1679C>A (p.Pro560His) SNV
Germline
Chr16:56884058 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV005009909

NM_001126108.2(SLC12A3):c.1836G>A (p.Trp612Ter) SNV
Germline
Chr16:56885275 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV005009913

NM_001126108.2(SLC12A3):c.2368+2T>C SNV
Germline
Chr16:56890358 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV005009931

NM_001126108.2(SLC12A3):c.2419+13C>G SNV
Germline
Chr16:56892146 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV005015701

NM_001126108.2(SLC12A3):c.2555G>T (p.Arg852Leu) SNV
Germline
Chr16:56894564 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005002112

NM_001126108.2(SLC12A3):c.2633+1G>C SNV
Germline
Chr16:56894643 Pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV005009936

NM_001126108.2(SLC12A3):c.2847C>G (p.Asn949Lys) SNV
Germline
Chr16:56902499 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV005015706

NM_001126108.2(SLC12A3):c.2872A>G (p.Arg958Gly) SNV
Germline
Chr16:56904410 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV005009944

NM_001126108.2(SLC12A3):c.2924+1G>T SNV
Germline
Chr16:56904463 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV005009946

NM_001126108.2(SLC12A3):c.2925-2A>G SNV
Germline
Chr16:56913262 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV005009948

NM_001126108.2(SLC12A3):c.1142G>A (p.Trp381Ter) SNV
Germline
Chr16:56878123 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV005229682

NM_001126108.2(SLC12A3):c.643C>T (p.Leu215Phe) SNV
Germline
Chr16:56870137 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV005238262

NM_001126108.2(SLC12A3):c.1527C>A (p.Tyr509Ter) SNV
Germline
Chr16:56880213 Likely pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV005252255

NM_001126108.2(SLC12A3):c.1946C>G (p.Thr649Arg) SNV
Germline
Chr16:56886384 Pathogenic Familial hypokalemia-hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV005408374

NM_001126108.2(SLC12A3):c.1085G>A (p.Gly362Asp) SNV
Germline
Chr16:56872776 Likely pathogenic Familial hypokalemia-hypomagnesemia No Assertion Criteria Provided

1 SubmittersRCV005612778

NM_001126108.2(SLC12A3):c.1670-1G>A SNV
Germline
Chr16:56884048 Pathogenic Familial hypokalemia-hypomagnesemia No Assertion Criteria Provided

1 SubmittersRCV005609977