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	12 SubmittersRCV000009115 RCV000805008 RCV003421914 RCV002512930
NM_001126108.2(SLC12A3):c.1261T>C (p.Cys421Arg)	SNV Germline	Chr16:56879153	Pathogenic	Familial hypokalemia-hypomagnesemia Condition: not provided	Criteria Provided Single Submitter	CA119766	rs_28936387	3 SubmittersRCV000009116 RCV001224839
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	4 SubmittersRCV000009117 RCV001381397
NM_001126108.2(SLC12A3):c.1926-1G>T	SNV Germline	Chr16:56886363	Pathogenic	Familial hypokalemia-hypomagnesemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_755560627	3 SubmittersRCV000009118 RCV001061253
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	12 SubmittersRCV000009119 RCV000518052 RCV001328221
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		rs_1347239469	1 SubmittersRCV000009121
NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val)	SNV Germline	Chr16:56884142	Pathogenic	Familial hypokalemia-hypomagnesemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA119774	rs_121909382	5 SubmittersRCV000009122 RCV001046660
NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu)	SNV Germline	Chr16:56872737	Pathogenic/Likely pathogenic	Familial hypokalemia-hypomagnesemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA119776	rs_121909383	4 SubmittersRCV000009123 RCV000820759
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	4 SubmittersRCV000009126 RCV001210434
NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met)	SNV Germline	Chr16:56868355	Pathogenic	Condition: not provided Familial hypokalemia-hypomagnesemia	Criteria Provided Multiple Submitters No Conflicts		rs_267607050	6 SubmittersRCV001221896 RCV001807148
NM_000338.3(SLC12A1):c.1942G>A (p.Asp648Asn)	SNV Germline	Chr15:48251770	Conflicting classifications of pathogenicity	Bartter disease type 1 Bartter syndrome Familial hypokalemia-hypomagnesemia	No Assertion Criteria Provided	CA119888	rs_137853157	2 SubmittersRCV000009295 RCV001328098
NM_001126108.2(SLC12A3):c.1189G>A (p.Val397Met)	SNV Germline	Chr16:56879081	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Familial hypokalemia-hypomagnesemia	Criteria Provided Conflicting Classifications	CA216088	rs_387907472	4 SubmittersRCV000054600 RCV002515739 RCV002504952
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 SubmittersRCV000054604 RCV000388724
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	13 SubmittersRCV000087747 RCV000489628
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 Sialic acid storage disease, severe infantile type Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA236266	rs_142553916	13 SubmittersRCV000171400 RCV000764656 RCV001082286 RCV002284193 RCV001162237 RCV002515239
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)	SNV Germline	Chr16:56887967	Pathogenic/Likely pathogenic	Familial hypokalemia-hypomagnesemia Condition: not provided Familial hypokalemia-hypomagnesemia Bartter syndrome Hypokalemia Hypermagnesemia Myalgia Muscle weakness Inherited renal tubular disease SLC12A3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA204579	rs_138977195	23 SubmittersRCV000190624 RCV000255367 RCV001328096 RCV000626663 RCV004017477 RCV003401040
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 SubmittersRCV000191129 RCV000681951
NM_001126108.2(SLC12A3):c.1216A>C (p.Asn406His)	SNV Germline	Chr16:56879108	Conflicting classifications of pathogenicity	Condition: not provided Familial hypokalemia-hypomagnesemia	Criteria Provided Conflicting Classifications	CA8069403	rs_759532318	2 SubmittersRCV002515599 RCV000490283
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	5 SubmittersRCV000279337 RCV000901287 RCV003417765
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	8 SubmittersRCV000490297 RCV000713330
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=)	SNV Germline	Chr16:56865484	Conflicting classifications of pathogenicity	not specified Familial hypokalemia-hypomagnesemia Condition: not provided	Criteria Provided Conflicting Classifications	CA8068943	rs_76750525	6 SubmittersRCV000250431 RCV000341271 RCV000891297
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	3 SubmittersRCV000576776 RCV003556306
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 SubmittersRCV000328265 RCV000963131
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 SubmittersRCV000380828 RCV000809022
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 SubmittersRCV000313622 RCV002521053
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 SubmittersRCV000286818 RCV000414425
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 SubmittersRCV000405772 RCV000896914 RCV002521055
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 SubmittersRCV000310027 RCV001514389
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	3 SubmittersRCV000298248 RCV001498922
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=)	SNV Germline	Chr16:56879176	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia Condition: not provided	Criteria Provided Conflicting Classifications	CA8069411	rs_34216426	5 SubmittersRCV000269299 RCV000898595
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 SubmittersRCV000350646 RCV001486238
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 SubmittersRCV000305993 RCV000932948
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 SubmittersRCV000265886 RCV001492657
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 SubmittersRCV000259802 RCV001463707
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 SubmittersRCV000349367 RCV002061202
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 SubmittersRCV000261759 RCV002522874
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 SubmittersRCV000368345 RCV001490630
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 SubmittersRCV000326577 RCV001405196
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 SubmittersRCV000378908 RCV000917794
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 SubmittersRCV000308439 RCV000926245
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	2 SubmittersRCV000299747 RCV003418007
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 SubmittersRCV000291919 RCV000885797 RCV001701851
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	3 SubmittersRCV000366193 RCV001401125
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	8 SubmittersRCV000362354 RCV000993002
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 SubmittersRCV000267192 RCV000924763
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 SubmittersRCV000296678 RCV001500964
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp)	SNV Germline	Chr16:56904401	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia Familial hypokalemia-hypomagnesemia Bartter syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8070131	rs_559626481	5 SubmittersRCV000341379 RCV001328102 RCV001389305
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	16 SubmittersRCV000412851 RCV001271445 RCV001328169
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 SubmittersRCV000439274 RCV000762973
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly)	SNV Germline	Chr16:56885363	Pathogenic/Likely pathogenic	Familial hypokalemia-hypomagnesemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8069650	rs_200697179	8 SubmittersRCV000449562 RCV001239291
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 Familial hypokalemia-hypomagnesemia Bartter syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA8069667	rs_140012781	16 SubmittersRCV000477915 RCV000681948 RCV001328101 RCV004023099
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)	SNV Germline	Chr16:56904402	Pathogenic/Likely pathogenic	Familial hypokalemia-hypomagnesemia Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8070132	rs_202114767	10 SubmittersRCV000477802 RCV002525742 RCV000681947
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 SubmittersRCV000493117 RCV002506193
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 SubmittersRCV000501643 RCV000681791
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	10 SubmittersRCV000504824 RCV000823519
NM_001126108.2(SLC12A3):c.506-1G>A	SNV Germline	Chr16:56869728	Pathogenic	Condition: not provided Familial hypokalemia-hypomagnesemia Bartter syndrome Familial hypokalemia-hypomagnesemia SLC12A3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA8069085	rs_201555148	9 SubmittersRCV000517374 RCV000762971 RCV001328170 RCV003925548
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 SubmittersRCV000516845 RCV001274377 RCV003409740
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys)	SNV Germline	Chr16:56879087	Pathogenic	Condition: not provided Familial hypokalemia-hypomagnesemia	Criteria Provided Multiple Submitters No Conflicts	CA8069396	rs_775931992	8 SubmittersRCV000517680 RCV000762972
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr)	SNV Germline	Chr16:56913293	Conflicting classifications of pathogenicity	Condition: not provided Familial hypokalemia-hypomagnesemia	Criteria Provided Conflicting Classifications	CA8070172	rs_199849117	11 SubmittersRCV000517299 RCV001271446
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 SubmittersRCV000576426 RCV002526929
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 SubmittersRCV000591358 RCV000989608 RCV003488715 RCV004024751 RCV003935605
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	13 SubmittersRCV000607947 RCV000681735 RCV000778470 RCV002529351 RCV003424170
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 Hypokalemia Hypermagnesemia Myalgia Condition: not provided Familial hypokalemia-hypomagnesemia	Criteria Provided Conflicting Classifications	CA8069044	rs_779074538	3 SubmittersRCV000626664 RCV001860477 RCV002289914
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		rs_779160677	7 SubmittersRCV000681800 RCV001807314
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		rs_752101663	7 SubmittersRCV000681801 RCV000762974
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		rs_147200024	9 SubmittersRCV000681930 RCV001119951 RCV004026174
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		rs_759426055	3 SubmittersRCV000681931 RCV002245585
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 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_759377924	16 SubmittersRCV000713326 RCV000760979 RCV001328223 RCV004544962 RCV004026826
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)	SNV Germline	Chr16:56913277	Pathogenic/Likely pathogenic	Condition: not provided Familial hypokalemia-hypomagnesemia Bartter syndrome Familial hypokalemia-hypomagnesemia Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_34803727	12 SubmittersRCV000713331 RCV000762975 RCV001328220 RCV004026827
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		rs_370175770	4 SubmittersRCV000729474 RCV001807339
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		rs_768527231	6 SubmittersRCV000779192 RCV001040338
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		rs_769047841	3 SubmittersRCV000778908 RCV002535643
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		rs_374324018	6 SubmittersRCV000778471 RCV001379908 RCV002536732
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		rs_201945662	5 SubmittersRCV000778472 RCV001224209
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met)	SNV Germline	Chr16:56886384	Pathogenic/Likely pathogenic	Familial hypokalemia-hypomagnesemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_145337602	6 SubmittersRCV000779193 RCV000993003
NM_001126108.2(SLC12A3):c.509T>C (p.Leu170Pro)	SNV Germline	Chr16:56869732	Likely pathogenic	Familial hypokalemia-hypomagnesemia	No Assertion Criteria Provided		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		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		rs_1596883431	2 SubmittersRCV000809019 RCV001825611
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		rs_751409326	2 SubmittersRCV000807657 RCV002501092
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		rs_1274973729	6 SubmittersRCV000802180 RCV001251514
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys)	SNV Germline	Chr16:56869762	Conflicting classifications of pathogenicity	Condition: not provided Familial hypokalemia-hypomagnesemia	Criteria Provided Conflicting Classifications		rs_146158333	5 SubmittersRCV000803323 RCV001115368
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		rs_747139582	2 SubmittersRCV000800647 RCV002282370
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		rs_753523115	3 SubmittersRCV000795994 RCV001276374
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	Criteria Provided Multiple Submitters No Conflicts		rs_148038173	12 SubmittersRCV000796506 RCV001276376 RCV002537028
NM_001126108.2(SLC12A3):c.1670-191C>T	SNV Germline	Chr16:56883858	Conflicting classifications of pathogenicity	Condition: not provided Familial hypokalemia-hypomagnesemia SLC12A3-related disorder	Criteria Provided Conflicting Classifications		rs_374182921	10 SubmittersRCV000823626 RCV001251115 RCV003928288
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		rs_761242621	5 SubmittersRCV000806887 RCV001276383 RCV002537234
NM_001126108.2(SLC12A3):c.928G>A (p.Glu310Lys)	SNV Germline	Chr16:56872426	Conflicting classifications of pathogenicity	Condition: not provided Familial hypokalemia-hypomagnesemia	Criteria Provided Conflicting Classifications		rs_146834675	6 SubmittersRCV000885798 RCV001118512
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val)	SNV Germline	Chr16:56880247	Conflicting classifications of pathogenicity	Condition: not provided Familial hypokalemia-hypomagnesemia	Criteria Provided Conflicting Classifications		rs_147046379	5 SubmittersRCV000884094 RCV001274425
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		rs_35070204	4 SubmittersRCV000900444 RCV001120156
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		rs_370145822	4 SubmittersRCV000897625 RCV001120157
NM_001126108.2(SLC12A3):c.2285+8G>A	SNV Germline	Chr16:56888039	Conflicting classifications of pathogenicity	Condition: not provided Familial hypokalemia-hypomagnesemia not specified	Criteria Provided Conflicting Classifications		rs_199854613	4 SubmittersRCV000910569 RCV002505333 RCV003489965
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		rs_368574873	4 SubmittersRCV000966344 RCV001120041
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		rs_745327566	3 SubmittersRCV000982261 RCV001120240
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		rs_1041531529	3 SubmittersRCV000993006 RCV001832310
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		rs_758035631	6 SubmittersRCV000993007 RCV001807374 RCV002549824 RCV003413782
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		rs_778585043	4 SubmittersRCV000993001 RCV001832309
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		rs_369360334	6 SubmittersRCV000993004 RCV001276382
NM_001126108.2(SLC12A3):c.55C>T (p.Arg19Cys)	SNV Germline	Chr16:56865290	Likely pathogenic	Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter		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		rs_757490496	3 SubmittersRCV001046841 RCV001807378
NM_001126108.2(SLC12A3):c.1314C>G (p.Tyr438Ter)	SNV Germline	Chr16:56879206	Pathogenic	Condition: not provided Familial hypokalemia-hypomagnesemia Bartter syndrome	Criteria Provided Single Submitter		rs_776210036	2 SubmittersRCV001035507 RCV001328171
NM_001126108.2(SLC12A3):c.1489A>T (p.Lys497Ter)	SNV Germline	Chr16:56880175	Pathogenic	Condition: not provided Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter		rs_746818109	2 SubmittersRCV001056876 RCV001276375
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		rs_747249619	6 SubmittersRCV001042994 RCV001281278
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		rs_771326058	3 SubmittersRCV001067249 RCV001827438
NM_001126108.2(SLC12A3):c.3025C>T (p.Arg1009Ter)	SNV Germline	Chr16:56913364	Pathogenic	Condition: not provided Familial hypokalemia-hypomagnesemia Familial hypokalemia-hypomagnesemia Bartter syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_781209989	5 SubmittersRCV001036419 RCV001813809 RCV001328173
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		rs_747197324	3 SubmittersRCV001121942 RCV001445380
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		rs_1335054266	2 SubmittersRCV001118513 RCV002069917
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		rs_1159677951	2 SubmittersRCV001118514 RCV002069918
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		rs_781030242	4 SubmittersRCV001118516 RCV001776118
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		rs_764801122	3 SubmittersRCV001115449 RCV001483463
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		rs_776382586	3 SubmittersRCV001115545 RCV001414065
NM_001126108.2(SLC12A3):c.2413G>A (p.Ala805Thr)	SNV Germline	Chr16:56892127	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_758304056	3 SubmittersRCV001115547 RCV001503745
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		rs_191194366	3 SubmittersRCV001116971 RCV001406118
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		rs_773727087	2 SubmittersRCV001115366 RCV003574830
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		rs_759198908	2 SubmittersRCV001115367 RCV003574831
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		rs_376908568	2 SubmittersRCV001118511 RCV002556519
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		rs_376819753	3 SubmittersRCV001115450 RCV001517360
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		rs_187885782	5 SubmittersRCV001223584 RCV001536124
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		rs_200697179	5 SubmittersRCV001215299 RCV001833878
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		rs_201190064	4 SubmittersRCV001208463 RCV001807392
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		rs_780594361	4 SubmittersRCV001206570 RCV001828656
NM_001126108.2(SLC12A3):c.1077C>G (p.Asn359Lys)	SNV Germline	Chr16:56872768	Pathogenic	Condition: not provided Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter		rs_181865675	2 SubmittersRCV001213207 RCV001833866
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		rs_1244866304	4 SubmittersRCV001201916 RCV001807391
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		rs_778455414	5 SubmittersRCV001204837 RCV001833800
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		rs_775799617	5 SubmittersRCV001222819 RCV001833931
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		rs_1187506921	4 SubmittersRCV001231978 RCV001828849
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		rs_1596895536	2 SubmittersRCV001233053 RCV002245892
NM_001126108.2(SLC12A3):c.1096-2A>G	SNV Germline	Chr16:56878075	Likely pathogenic	Condition: not provided Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter		rs_2055189357	2 SubmittersRCV001228340 RCV001833973
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		rs_2055084531	5 SubmittersRCV001267119 RCV001880133 RCV001830070
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		rs_1451284628	2 SubmittersRCV001328166 RCV001880185
NM_001126108.2(SLC12A3):c.1180G>A (p.Gly394Ser)	SNV Germline	Chr16:56878161	Likely pathogenic	Familial hypokalemia-hypomagnesemia	No Assertion Criteria Provided		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		rs_373901523	7 SubmittersRCV001288429 RCV001807395
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		rs_760134110	4 SubmittersRCV001288431 RCV001807396
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		rs_1467657889	3 SubmittersRCV001310259 RCV003770625
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		rs_777815715	4 SubmittersRCV001310329 RCV002286834 RCV002545034
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu)	SNV Germline	Chr16:56869756	Pathogenic/Likely pathogenic	Familial hypokalemia-hypomagnesemia Condition: not provided Malignant tumor of breast	Criteria Provided Multiple Submitters No Conflicts		rs_772589653	5 SubmittersRCV001329194 RCV001388993 RCV004526111
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		rs_1401379546	4 SubmittersRCV001329193 RCV001863199
NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys)	SNV Germline	Chr16:56867190	Pathogenic/Likely pathogenic	Condition: not provided Familial hypokalemia-hypomagnesemia Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_749742102	3 SubmittersRCV001379907 RCV002499787 RCV002550965
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp)	SNV Germline	Chr16:56872459	Pathogenic/Likely pathogenic	Condition: not provided Familial hypokalemia-hypomagnesemia SLC12A3-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_150046661	6 SubmittersRCV001379116 RCV001831367 RCV003918895
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		rs_781137708	3 SubmittersRCV001378475 RCV002504631
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		rs_200219778	4 SubmittersRCV001388991 RCV001542489
NM_001126108.2(SLC12A3):c.911C>T (p.Thr304Met)	SNV Germline	Chr16:56872409	Pathogenic	Condition: not provided Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter		rs_755069436	2 SubmittersRCV001381398 RCV001826158
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		rs_748575829	3 SubmittersRCV001381399 RCV002243171
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		rs_761692493	3 SubmittersRCV001389306 RCV002493932
NM_001126108.2(SLC12A3):c.2902C>T (p.Arg968Ter)	SNV Germline	Chr16:56904440	Pathogenic	Condition: not provided Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter		rs_765609579	2 SubmittersRCV001389307 RCV001826181
NM_001126108.2(SLC12A3):c.1485C>A (p.Phe495Leu)	SNV Unknown	Chr16:56880171	Likely pathogenic	Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter		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		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		rs_28936387	2 SubmittersRCV001663810 RCV002502009
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		rs_757792232	5 SubmittersRCV001702309 RCV002243433
NM_001126108.2(SLC12A3):c.2585G>C (p.Arg862Pro)	SNV Unknown	Chr16:56894594	Likely pathogenic	Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter		rs_267607051	1 SubmittersRCV001730038
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		rs_370301695	3 SubmittersRCV001756536 RCV002243457
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		rs_779160677	2 SubmittersRCV001801295 RCV002541347
NM_001126108.2(SLC12A3):c.719A>G (p.Glu240Gly)	SNV Unknown	Chr16:56870213	Likely pathogenic	Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter		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		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		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		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		rs_2153023287	4 SubmittersRCV001824223 RCV001869832 RCV004542135
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		rs_748920885	5 SubmittersRCV001941712 RCV002497870
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		rs_748920885	2 SubmittersRCV001939411 RCV002290814
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		rs_751675724	2 SubmittersRCV001888736 RCV002503482
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		rs_1298687889	2 SubmittersRCV002010744 RCV002243505
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		rs_199511487	2 SubmittersRCV001927180 RCV002243480
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		rs_1347239469	2 SubmittersRCV001975151 RCV002484810
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		rs_758035631	2 SubmittersRCV002020283 RCV002498026
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		rs_1375515522	3 SubmittersRCV001980278 RCV002243499
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		rs_2144689378	2 SubmittersRCV001938033 RCV002243481
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		rs_2144723074	2 SubmittersRCV001970037 RCV002507700
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		rs_781342495	3 SubmittersRCV001972830 RCV003331251 RCV003893019
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		rs_751929135	2 SubmittersRCV001956268 RCV003230719
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		rs_2144733006	3 SubmittersRCV001886034 RCV002243478
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		rs_755475785	2 SubmittersRCV001959148 RCV003314029
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		rs_13306668	2 SubmittersRCV002001456 RCV003333198
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		rs_1596895536	2 SubmittersRCV001890526 RCV003323942
NM_001126108.2(SLC12A3):c.1A>G (p.Met1Val)	SNV Germline	Chr16:56865236	Pathogenic	Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter		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		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		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		rs_2144723125	1 SubmittersRCV002245161
NM_001126108.2(SLC12A3):c.160C>T (p.Arg54Cys)	SNV Germline	Chr16:56865395	Likely pathogenic	Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter		rs_774753302	1 SubmittersRCV002245162
NM_001126108.2(SLC12A3):c.2521G>C (p.Gly841Arg)	SNV Germline	Chr16:56893054	Likely pathogenic	Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter		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		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		rs_773428143	3 SubmittersRCV002245165 RCV003365715
NM_001126108.2(SLC12A3):c.201T>A (p.Tyr67Ter)	SNV Germline	Chr16:56865436	Pathogenic	Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter		rs_1227599828	1 SubmittersRCV002245168
NM_001126108.2(SLC12A3):c.2037+87A>G	SNV Germline	Chr16:56886562	Likely pathogenic	Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter		rs_1456555803	1 SubmittersRCV002245169
NM_001126108.2(SLC12A3):c.2521+255G>A	SNV Germline	Chr16:56893309	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia SLC12A3-related disorder	Criteria Provided Conflicting Classifications		rs_1037430183	2 SubmittersRCV002245171 RCV003933708
NM_001126108.2(SLC12A3):c.2721-2A>T	SNV Germline	Chr16:56902371	Pathogenic	Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter		rs_2144766556	1 SubmittersRCV002245172
NM_001126108.2(SLC12A3):c.602-16G>A	SNV Germline	Chr16:56870080	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_750901478	4 SubmittersRCV002245174 RCV003560880
NM_001126108.2(SLC12A3):c.852+243C>T	SNV Germline	Chr16:56870979	Likely pathogenic	Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter		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		rs_764833797	2 SubmittersRCV002245178 RCV003560881
NM_001126108.2(SLC12A3):c.1095+4A>G	SNV Germline	Chr16:56872790	Pathogenic	Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter		rs_2144695925	1 SubmittersRCV002245181
NM_001126108.2(SLC12A3):c.602-11T>A	SNV Germline	Chr16:56870085	Likely pathogenic	Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter		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			1 SubmittersRCV002283819
NM_001126108.2(SLC12A3):c.1452C>A (p.Cys484Ter)	SNV Germline	Chr16:56880138	Likely pathogenic	Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter			1 SubmittersRCV002288428
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			2 SubmittersRCV002654662 RCV003988065
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			2 SubmittersRCV002675775 RCV003324041
NM_001126108.2(SLC12A3):c.2522-18G>A	SNV Germline	Chr16:56894513	Likely pathogenic	Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter			1 SubmittersRCV003441151
NM_001126108.2(SLC12A3):c.1067C>T (p.Ala356Val)	SNV Germline	Chr16:56872758	Pathogenic/Likely pathogenic	Familial hypokalemia-hypomagnesemia SLC12A3-related disorder	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003322725 RCV003966315
NM_001126108.2(SLC12A3):c.1443+1G>A	SNV Germline	Chr16:56879650	Likely pathogenic	Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter			1 SubmittersRCV003388755
NM_001126108.2(SLC12A3):c.1825+1G>C	SNV Germline	Chr16:56884205	Likely pathogenic	Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter			1 SubmittersRCV003992088
NM_001126108.2(SLC12A3):c.2099T>C (p.Leu700Pro)	SNV Germline	Chr16:56887014	Pathogenic	Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter			1 SubmittersRCV004527202
NM_001126108.2(SLC12A3):c.2925-1G>A	SNV Germline	Chr16:56913263	Likely pathogenic	Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter			1 SubmittersRCV004555441
NM_001126108.2(SLC12A3):c.1316G>T (p.Gly439Val)	SNV Germline	Chr16:56879208	Likely pathogenic	Familial hypokalemia-hypomagnesemia	No Assertion Criteria Provided			1 SubmittersRCV004556172
NM_001126108.2(SLC12A3):c.421G>A (p.Gly141Arg)	SNV Germline	Chr16:56867208	Likely pathogenic	Familial hypokalemia-hypomagnesemia	Criteria Provided Single Submitter			1 SubmittersRCV004577936

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

12 SubmittersRCV000009115 RCV000805008 RCV003421914 RCV002512930

NM_001126108.2(SLC12A3):c.1261T>C (p.Cys421Arg)

SNV
Germline

Chr16:56879153

Pathogenic

Familial hypokalemia-hypomagnesemia
Condition: not provided

Criteria Provided
Single Submitter

CA119766

rs_28936387

3 SubmittersRCV000009116 RCV001224839

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

4 SubmittersRCV000009117 RCV001381397

NM_001126108.2(SLC12A3):c.1926-1G>T

SNV
Germline

Chr16:56886363

Pathogenic

Familial hypokalemia-hypomagnesemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_755560627

3 SubmittersRCV000009118 RCV001061253

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

12 SubmittersRCV000009119 RCV000518052 RCV001328221

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

rs_1347239469

1 SubmittersRCV000009121

NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val)

SNV
Germline

Chr16:56884142

Pathogenic

Familial hypokalemia-hypomagnesemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA119774

rs_121909382

5 SubmittersRCV000009122 RCV001046660

NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu)

SNV
Germline

Chr16:56872737

Pathogenic/Likely pathogenic

Familial hypokalemia-hypomagnesemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA119776

rs_121909383

4 SubmittersRCV000009123 RCV000820759

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

4 SubmittersRCV000009126 RCV001210434

NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met)

SNV
Germline

Chr16:56868355

Pathogenic

Condition: not provided
Familial hypokalemia-hypomagnesemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_267607050

6 SubmittersRCV001221896 RCV001807148

NM_000338.3(SLC12A1):c.1942G>A (p.Asp648Asn)

SNV
Germline

Chr15:48251770

Conflicting classifications of pathogenicity

Bartter disease type 1
Bartter syndrome
Familial hypokalemia-hypomagnesemia

No Assertion Criteria Provided

CA119888

rs_137853157

2 SubmittersRCV000009295 RCV001328098

NM_001126108.2(SLC12A3):c.1189G>A (p.Val397Met)

SNV
Germline

Chr16:56879081

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Familial hypokalemia-hypomagnesemia

Criteria Provided
Conflicting Classifications

CA216088

rs_387907472

4 SubmittersRCV000054600 RCV002515739 RCV002504952

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 SubmittersRCV000054604 RCV000388724

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

13 SubmittersRCV000087747 RCV000489628

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
Sialic acid storage disease, severe infantile type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA236266

rs_142553916

13 SubmittersRCV000171400 RCV000764656 RCV001082286 RCV002284193 RCV001162237 RCV002515239

NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)

SNV
Germline

Chr16:56887967

Pathogenic/Likely pathogenic

Familial hypokalemia-hypomagnesemia
Condition: not provided
Familial hypokalemia-hypomagnesemia
Bartter syndrome
Hypokalemia
Hypermagnesemia
Myalgia
Muscle weakness
Inherited renal tubular disease
SLC12A3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA204579

rs_138977195

23 SubmittersRCV000190624 RCV000255367 RCV001328096 RCV000626663 RCV004017477 RCV003401040

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 SubmittersRCV000191129 RCV000681951

NM_001126108.2(SLC12A3):c.1216A>C (p.Asn406His)

SNV
Germline

Chr16:56879108

Conflicting classifications of pathogenicity

Condition: not provided
Familial hypokalemia-hypomagnesemia

Criteria Provided
Conflicting Classifications

CA8069403

rs_759532318

2 SubmittersRCV002515599 RCV000490283

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

5 SubmittersRCV000279337 RCV000901287 RCV003417765

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

8 SubmittersRCV000490297 RCV000713330

NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=)

SNV
Germline

Chr16:56865484

Conflicting classifications of pathogenicity

not specified
Familial hypokalemia-hypomagnesemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8068943

rs_76750525

6 SubmittersRCV000250431 RCV000341271 RCV000891297

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

3 SubmittersRCV000576776 RCV003556306

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 SubmittersRCV000328265 RCV000963131

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 SubmittersRCV000380828 RCV000809022

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 SubmittersRCV000313622 RCV002521053

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 SubmittersRCV000286818 RCV000414425

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 SubmittersRCV000405772 RCV000896914 RCV002521055

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 SubmittersRCV000310027 RCV001514389

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

3 SubmittersRCV000298248 RCV001498922

NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=)

SNV
Germline

Chr16:56879176

Conflicting classifications of pathogenicity

Familial hypokalemia-hypomagnesemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8069411

rs_34216426

5 SubmittersRCV000269299 RCV000898595

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 SubmittersRCV000350646 RCV001486238

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 SubmittersRCV000305993 RCV000932948

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 SubmittersRCV000265886 RCV001492657

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 SubmittersRCV000259802 RCV001463707

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 SubmittersRCV000349367 RCV002061202

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 SubmittersRCV000261759 RCV002522874

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 SubmittersRCV000368345 RCV001490630

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 SubmittersRCV000326577 RCV001405196

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 SubmittersRCV000378908 RCV000917794

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 SubmittersRCV000308439 RCV000926245

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

2 SubmittersRCV000299747 RCV003418007

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 SubmittersRCV000291919 RCV000885797 RCV001701851

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

3 SubmittersRCV000366193 RCV001401125

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

8 SubmittersRCV000362354 RCV000993002

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 SubmittersRCV000267192 RCV000924763

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 SubmittersRCV000296678 RCV001500964

NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp)

SNV
Germline

Chr16:56904401

Conflicting classifications of pathogenicity

Familial hypokalemia-hypomagnesemia
Familial hypokalemia-hypomagnesemia
Bartter syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8070131

rs_559626481

5 SubmittersRCV000341379 RCV001328102 RCV001389305

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

16 SubmittersRCV000412851 RCV001271445 RCV001328169

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 SubmittersRCV000439274 RCV000762973

NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly)

SNV
Germline

Chr16:56885363

Pathogenic/Likely pathogenic

Familial hypokalemia-hypomagnesemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8069650

rs_200697179

8 SubmittersRCV000449562 RCV001239291

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
Familial hypokalemia-hypomagnesemia
Bartter syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA8069667

rs_140012781

16 SubmittersRCV000477915 RCV000681948 RCV001328101 RCV004023099

NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)

SNV
Germline

Chr16:56904402

Pathogenic/Likely pathogenic

Familial hypokalemia-hypomagnesemia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8070132

rs_202114767

10 SubmittersRCV000477802 RCV002525742 RCV000681947

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 SubmittersRCV000493117 RCV002506193

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 SubmittersRCV000501643 RCV000681791

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

10 SubmittersRCV000504824 RCV000823519

NM_001126108.2(SLC12A3):c.506-1G>A

SNV
Germline

Chr16:56869728

Pathogenic

Condition: not provided
Familial hypokalemia-hypomagnesemia
Bartter syndrome
Familial hypokalemia-hypomagnesemia
SLC12A3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8069085

rs_201555148

9 SubmittersRCV000517374 RCV000762971 RCV001328170 RCV003925548

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 SubmittersRCV000516845 RCV001274377 RCV003409740

NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys)

SNV
Germline

Chr16:56879087

Pathogenic

Condition: not provided
Familial hypokalemia-hypomagnesemia

Criteria Provided
Multiple Submitters
No Conflicts

CA8069396

rs_775931992

8 SubmittersRCV000517680 RCV000762972

NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr)

SNV
Germline

Chr16:56913293

Conflicting classifications of pathogenicity

Condition: not provided
Familial hypokalemia-hypomagnesemia

Criteria Provided
Conflicting Classifications

CA8070172

rs_199849117

11 SubmittersRCV000517299 RCV001271446

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 SubmittersRCV000576426 RCV002526929

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 SubmittersRCV000591358 RCV000989608 RCV003488715 RCV004024751 RCV003935605

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

13 SubmittersRCV000607947 RCV000681735 RCV000778470 RCV002529351 RCV003424170

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
Hypokalemia
Hypermagnesemia
Myalgia
Condition: not provided
Familial hypokalemia-hypomagnesemia

Criteria Provided
Conflicting Classifications

CA8069044

rs_779074538

3 SubmittersRCV000626664 RCV001860477 RCV002289914

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

rs_779160677

7 SubmittersRCV000681800 RCV001807314

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

rs_752101663

7 SubmittersRCV000681801 RCV000762974

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

rs_147200024

9 SubmittersRCV000681930 RCV001119951 RCV004026174

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

rs_759426055

3 SubmittersRCV000681931 RCV002245585

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
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_759377924

16 SubmittersRCV000713326 RCV000760979 RCV001328223 RCV004544962 RCV004026826

NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)

SNV
Germline

Chr16:56913277

Pathogenic/Likely pathogenic

Condition: not provided
Familial hypokalemia-hypomagnesemia
Bartter syndrome
Familial hypokalemia-hypomagnesemia
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_34803727

12 SubmittersRCV000713331 RCV000762975 RCV001328220 RCV004026827

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

rs_370175770

4 SubmittersRCV000729474 RCV001807339

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

rs_768527231

6 SubmittersRCV000779192 RCV001040338

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

rs_769047841

3 SubmittersRCV000778908 RCV002535643

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

rs_374324018

6 SubmittersRCV000778471 RCV001379908 RCV002536732

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

rs_201945662

5 SubmittersRCV000778472 RCV001224209

NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met)

SNV
Germline

Chr16:56886384

Pathogenic/Likely pathogenic

Familial hypokalemia-hypomagnesemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_145337602

6 SubmittersRCV000779193 RCV000993003

NM_001126108.2(SLC12A3):c.509T>C (p.Leu170Pro)

SNV
Germline

Chr16:56869732

Likely pathogenic

Familial hypokalemia-hypomagnesemia

No Assertion Criteria Provided

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

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

rs_1596883431

2 SubmittersRCV000809019 RCV001825611

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

rs_751409326

2 SubmittersRCV000807657 RCV002501092

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

rs_1274973729

6 SubmittersRCV000802180 RCV001251514

NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys)

SNV
Germline

Chr16:56869762

Conflicting classifications of pathogenicity

Condition: not provided
Familial hypokalemia-hypomagnesemia

Criteria Provided
Conflicting Classifications

rs_146158333

5 SubmittersRCV000803323 RCV001115368

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

rs_747139582

2 SubmittersRCV000800647 RCV002282370

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

rs_753523115

3 SubmittersRCV000795994 RCV001276374

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_148038173

12 SubmittersRCV000796506 RCV001276376 RCV002537028

NM_001126108.2(SLC12A3):c.1670-191C>T

SNV
Germline

Chr16:56883858

Conflicting classifications of pathogenicity

Condition: not provided
Familial hypokalemia-hypomagnesemia
SLC12A3-related disorder

Criteria Provided
Conflicting Classifications

rs_374182921

10 SubmittersRCV000823626 RCV001251115 RCV003928288

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

rs_761242621

5 SubmittersRCV000806887 RCV001276383 RCV002537234

NM_001126108.2(SLC12A3):c.928G>A (p.Glu310Lys)

SNV
Germline

Chr16:56872426

Conflicting classifications of pathogenicity

Condition: not provided
Familial hypokalemia-hypomagnesemia

Criteria Provided
Conflicting Classifications

rs_146834675

6 SubmittersRCV000885798 RCV001118512

NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val)

SNV
Germline

Chr16:56880247

Conflicting classifications of pathogenicity

Condition: not provided
Familial hypokalemia-hypomagnesemia

Criteria Provided
Conflicting Classifications

rs_147046379

5 SubmittersRCV000884094 RCV001274425

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

rs_35070204

4 SubmittersRCV000900444 RCV001120156

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

rs_370145822

4 SubmittersRCV000897625 RCV001120157

NM_001126108.2(SLC12A3):c.2285+8G>A

SNV
Germline

Chr16:56888039

Conflicting classifications of pathogenicity

Condition: not provided
Familial hypokalemia-hypomagnesemia
not specified

Criteria Provided
Conflicting Classifications

rs_199854613

4 SubmittersRCV000910569 RCV002505333 RCV003489965

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

rs_368574873

4 SubmittersRCV000966344 RCV001120041

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

rs_745327566

3 SubmittersRCV000982261 RCV001120240

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

rs_1041531529

3 SubmittersRCV000993006 RCV001832310

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

rs_758035631

6 SubmittersRCV000993007 RCV001807374 RCV002549824 RCV003413782

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

rs_778585043

4 SubmittersRCV000993001 RCV001832309

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

rs_369360334

6 SubmittersRCV000993004 RCV001276382

NM_001126108.2(SLC12A3):c.55C>T (p.Arg19Cys)

SNV
Germline

Chr16:56865290

Likely pathogenic

Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

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

rs_757490496

3 SubmittersRCV001046841 RCV001807378

NM_001126108.2(SLC12A3):c.1314C>G (p.Tyr438Ter)

SNV
Germline

Chr16:56879206

Pathogenic

Condition: not provided
Familial hypokalemia-hypomagnesemia
Bartter syndrome

Criteria Provided
Single Submitter

rs_776210036

2 SubmittersRCV001035507 RCV001328171

NM_001126108.2(SLC12A3):c.1489A>T (p.Lys497Ter)

SNV
Germline

Chr16:56880175

Pathogenic

Condition: not provided
Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

rs_746818109

2 SubmittersRCV001056876 RCV001276375

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

rs_747249619

6 SubmittersRCV001042994 RCV001281278

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

rs_771326058

3 SubmittersRCV001067249 RCV001827438

NM_001126108.2(SLC12A3):c.3025C>T (p.Arg1009Ter)

SNV
Germline

Chr16:56913364

Pathogenic

Condition: not provided
Familial hypokalemia-hypomagnesemia
Familial hypokalemia-hypomagnesemia
Bartter syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_781209989

5 SubmittersRCV001036419 RCV001813809 RCV001328173

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

rs_747197324

3 SubmittersRCV001121942 RCV001445380

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

rs_1335054266

2 SubmittersRCV001118513 RCV002069917

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

rs_1159677951

2 SubmittersRCV001118514 RCV002069918

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

rs_781030242

4 SubmittersRCV001118516 RCV001776118

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

rs_764801122

3 SubmittersRCV001115449 RCV001483463

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

rs_776382586

3 SubmittersRCV001115545 RCV001414065

NM_001126108.2(SLC12A3):c.2413G>A (p.Ala805Thr)

SNV
Germline

Chr16:56892127

Conflicting classifications of pathogenicity

Familial hypokalemia-hypomagnesemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_758304056

3 SubmittersRCV001115547 RCV001503745

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

rs_191194366

3 SubmittersRCV001116971 RCV001406118

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

rs_773727087

2 SubmittersRCV001115366 RCV003574830

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

rs_759198908

2 SubmittersRCV001115367 RCV003574831

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

rs_376908568

2 SubmittersRCV001118511 RCV002556519

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

rs_376819753

3 SubmittersRCV001115450 RCV001517360

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

rs_187885782

5 SubmittersRCV001223584 RCV001536124

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

rs_200697179

5 SubmittersRCV001215299 RCV001833878

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

rs_201190064

4 SubmittersRCV001208463 RCV001807392

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

rs_780594361

4 SubmittersRCV001206570 RCV001828656

NM_001126108.2(SLC12A3):c.1077C>G (p.Asn359Lys)

SNV
Germline

Chr16:56872768

Pathogenic

Condition: not provided
Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

rs_181865675

2 SubmittersRCV001213207 RCV001833866

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

rs_1244866304

4 SubmittersRCV001201916 RCV001807391

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

rs_778455414

5 SubmittersRCV001204837 RCV001833800

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

rs_775799617

5 SubmittersRCV001222819 RCV001833931

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

rs_1187506921

4 SubmittersRCV001231978 RCV001828849

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

rs_1596895536

2 SubmittersRCV001233053 RCV002245892

NM_001126108.2(SLC12A3):c.1096-2A>G

SNV
Germline

Chr16:56878075

Likely pathogenic

Condition: not provided
Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

rs_2055189357

2 SubmittersRCV001228340 RCV001833973

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

rs_2055084531

5 SubmittersRCV001267119 RCV001880133 RCV001830070

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

rs_1451284628

2 SubmittersRCV001328166 RCV001880185

NM_001126108.2(SLC12A3):c.1180G>A (p.Gly394Ser)

SNV
Germline

Chr16:56878161

Likely pathogenic

Familial hypokalemia-hypomagnesemia

No Assertion Criteria Provided

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

rs_373901523

7 SubmittersRCV001288429 RCV001807395

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

rs_760134110

4 SubmittersRCV001288431 RCV001807396

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

rs_1467657889

3 SubmittersRCV001310259 RCV003770625

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

rs_777815715

4 SubmittersRCV001310329 RCV002286834 RCV002545034

NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu)

SNV
Germline

Chr16:56869756

Pathogenic/Likely pathogenic

Familial hypokalemia-hypomagnesemia
Condition: not provided
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_772589653

5 SubmittersRCV001329194 RCV001388993 RCV004526111

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

rs_1401379546

4 SubmittersRCV001329193 RCV001863199

NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys)

SNV
Germline

Chr16:56867190

Pathogenic/Likely pathogenic

Condition: not provided
Familial hypokalemia-hypomagnesemia
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_749742102

3 SubmittersRCV001379907 RCV002499787 RCV002550965

NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp)

SNV
Germline

Chr16:56872459

Pathogenic/Likely pathogenic

Condition: not provided
Familial hypokalemia-hypomagnesemia
SLC12A3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_150046661

6 SubmittersRCV001379116 RCV001831367 RCV003918895

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

rs_781137708

3 SubmittersRCV001378475 RCV002504631

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

rs_200219778

4 SubmittersRCV001388991 RCV001542489

NM_001126108.2(SLC12A3):c.911C>T (p.Thr304Met)

SNV
Germline

Chr16:56872409

Pathogenic

Condition: not provided
Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

rs_755069436

2 SubmittersRCV001381398 RCV001826158

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

rs_748575829

3 SubmittersRCV001381399 RCV002243171

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

rs_761692493

3 SubmittersRCV001389306 RCV002493932

NM_001126108.2(SLC12A3):c.2902C>T (p.Arg968Ter)

SNV
Germline

Chr16:56904440

Pathogenic

Condition: not provided
Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

rs_765609579

2 SubmittersRCV001389307 RCV001826181

NM_001126108.2(SLC12A3):c.1485C>A (p.Phe495Leu)

SNV
Unknown

Chr16:56880171

Likely pathogenic

Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

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

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

rs_28936387

2 SubmittersRCV001663810 RCV002502009

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

rs_757792232

5 SubmittersRCV001702309 RCV002243433

NM_001126108.2(SLC12A3):c.2585G>C (p.Arg862Pro)

SNV
Unknown

Chr16:56894594

Likely pathogenic

Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

rs_267607051

1 SubmittersRCV001730038

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

rs_370301695

3 SubmittersRCV001756536 RCV002243457

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

rs_779160677

2 SubmittersRCV001801295 RCV002541347

NM_001126108.2(SLC12A3):c.719A>G (p.Glu240Gly)

SNV
Unknown

Chr16:56870213

Likely pathogenic

Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

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

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

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

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

rs_2153023287

4 SubmittersRCV001824223 RCV001869832 RCV004542135

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

rs_748920885

5 SubmittersRCV001941712 RCV002497870

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

rs_748920885

2 SubmittersRCV001939411 RCV002290814

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

rs_751675724

2 SubmittersRCV001888736 RCV002503482

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

rs_1298687889

2 SubmittersRCV002010744 RCV002243505

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

rs_199511487

2 SubmittersRCV001927180 RCV002243480

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

rs_1347239469

2 SubmittersRCV001975151 RCV002484810

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

rs_758035631

2 SubmittersRCV002020283 RCV002498026

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

rs_1375515522

3 SubmittersRCV001980278 RCV002243499

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

rs_2144689378

2 SubmittersRCV001938033 RCV002243481

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

rs_2144723074

2 SubmittersRCV001970037 RCV002507700

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

rs_781342495

3 SubmittersRCV001972830 RCV003331251 RCV003893019

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

rs_751929135

2 SubmittersRCV001956268 RCV003230719

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

rs_2144733006

3 SubmittersRCV001886034 RCV002243478

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

rs_755475785

2 SubmittersRCV001959148 RCV003314029

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

rs_13306668

2 SubmittersRCV002001456 RCV003333198

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

rs_1596895536

2 SubmittersRCV001890526 RCV003323942

NM_001126108.2(SLC12A3):c.1A>G (p.Met1Val)

SNV
Germline

Chr16:56865236

Pathogenic

Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

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

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

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

rs_2144723125

1 SubmittersRCV002245161

NM_001126108.2(SLC12A3):c.160C>T (p.Arg54Cys)

SNV
Germline

Chr16:56865395

Likely pathogenic

Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

rs_774753302

1 SubmittersRCV002245162

NM_001126108.2(SLC12A3):c.2521G>C (p.Gly841Arg)

SNV
Germline

Chr16:56893054

Likely pathogenic

Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

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

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

rs_773428143

3 SubmittersRCV002245165 RCV003365715

NM_001126108.2(SLC12A3):c.201T>A (p.Tyr67Ter)

SNV
Germline

Chr16:56865436

Pathogenic

Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

rs_1227599828

1 SubmittersRCV002245168

NM_001126108.2(SLC12A3):c.2037+87A>G

SNV
Germline

Chr16:56886562

Likely pathogenic

Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

rs_1456555803

1 SubmittersRCV002245169

NM_001126108.2(SLC12A3):c.2521+255G>A

SNV
Germline

Chr16:56893309

Conflicting classifications of pathogenicity

Familial hypokalemia-hypomagnesemia
SLC12A3-related disorder

Criteria Provided
Conflicting Classifications

rs_1037430183

2 SubmittersRCV002245171 RCV003933708

NM_001126108.2(SLC12A3):c.2721-2A>T

SNV
Germline

Chr16:56902371

Pathogenic

Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

rs_2144766556

1 SubmittersRCV002245172

NM_001126108.2(SLC12A3):c.602-16G>A

SNV
Germline

Chr16:56870080

Conflicting classifications of pathogenicity

Familial hypokalemia-hypomagnesemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_750901478

4 SubmittersRCV002245174 RCV003560880

NM_001126108.2(SLC12A3):c.852+243C>T

SNV
Germline

Chr16:56870979

Likely pathogenic

Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

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

rs_764833797

2 SubmittersRCV002245178 RCV003560881

NM_001126108.2(SLC12A3):c.1095+4A>G

SNV
Germline

Chr16:56872790

Pathogenic

Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

rs_2144695925

1 SubmittersRCV002245181

NM_001126108.2(SLC12A3):c.602-11T>A

SNV
Germline

Chr16:56870085

Likely pathogenic

Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

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

1 SubmittersRCV002283819

NM_001126108.2(SLC12A3):c.1452C>A (p.Cys484Ter)

SNV
Germline

Chr16:56880138

Likely pathogenic

Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

1 SubmittersRCV002288428

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

2 SubmittersRCV002654662 RCV003988065

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

2 SubmittersRCV002675775 RCV003324041

NM_001126108.2(SLC12A3):c.2522-18G>A

SNV
Germline

Chr16:56894513

Likely pathogenic

Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

1 SubmittersRCV003441151

NM_001126108.2(SLC12A3):c.1067C>T (p.Ala356Val)

SNV
Germline

Chr16:56872758

Pathogenic/Likely pathogenic

Familial hypokalemia-hypomagnesemia
SLC12A3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003322725 RCV003966315

NM_001126108.2(SLC12A3):c.1443+1G>A

SNV
Germline

Chr16:56879650

Likely pathogenic

Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

1 SubmittersRCV003388755

NM_001126108.2(SLC12A3):c.1825+1G>C

SNV
Germline

Chr16:56884205

Likely pathogenic

Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

1 SubmittersRCV003992088

NM_001126108.2(SLC12A3):c.2099T>C (p.Leu700Pro)

SNV
Germline

Chr16:56887014

Pathogenic

Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

1 SubmittersRCV004527202

NM_001126108.2(SLC12A3):c.2925-1G>A

SNV
Germline

Chr16:56913263

Likely pathogenic

Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

1 SubmittersRCV004555441

NM_001126108.2(SLC12A3):c.1316G>T (p.Gly439Val)

SNV
Germline

Chr16:56879208

Likely pathogenic

Familial hypokalemia-hypomagnesemia

No Assertion Criteria Provided

1 SubmittersRCV004556172

NM_001126108.2(SLC12A3):c.421G>A (p.Gly141Arg)

SNV
Germline

Chr16:56867208

Likely pathogenic

Familial hypokalemia-hypomagnesemia

Criteria Provided
Single Submitter

1 SubmittersRCV004577936