ClinVar for MedGen (Select 355727) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25716671.	NM_000338.3(SLC12A1):c.[1154_1157dup];[2770C>T]			Bartter disease type 1	Pathogenic (Jul 12, 2023)	criteria provided, single submitter
Select item 25006972.	NM_000338.3(SLC12A1):c.1966C>T (p.Gln656Ter) GRCh37: Chr15:48548031 GRCh38: Chr15:48255834	SLC12A1	Q656*	Bartter disease type 1	Pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 24443783.	NM_000338.3(SLC12A1):c.1757G>A (p.Cys586Tyr) GRCh37: Chr15:48541844 GRCh38: Chr15:48249647	SLC12A1	C586Y	Bartter disease type 1	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24440974.	NM_000338.3(SLC12A1):c.1610G>C (p.Gly537Ala) GRCh37: Chr15:48539583 GRCh38: Chr15:48247386	SLC12A1	G537A	Bartter disease type 1	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24440905.	NM_000338.3(SLC12A1):c.1307G>A (p.Cys436Tyr) GRCh37: Chr15:48536956 GRCh38: Chr15:48244759	SLC12A1	C436Y	Bartter disease type 1	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24420976.	NM_000338.3(SLC12A1):c.2066G>A (p.Gly689Glu) GRCh37: Chr15:48551420 GRCh38: Chr15:48259223	SLC12A1	G689E	Bartter disease type 1	Uncertain significance (Feb 6, 2021)	criteria provided, single submitter
Select item 24359647.	NM_000338.3(SLC12A1):c.3003T>A (p.His1001Gln) GRCh37: Chr15:48591379 GRCh38: Chr15:48299182	SLC12A1	H1001Q	Bartter disease type 1	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 18060748.	NM_000338.3(SLC12A1):c.1511C>T (p.Thr504Ile) GRCh37: Chr15:48539164 GRCh38: Chr15:48246967	SLC12A1	T504I	Bartter disease type 1	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 17081299.	NM_000338.3(SLC12A1):c.595C>G (p.Arg199Gly) GRCh37: Chr15:48513160 GRCh38: Chr15:48220963	CTXN2-AS1, SLC12A1	R199G	not provided, Bartter disease type 1	Conflicting interpretations of pathogenicity (Jan 17, 2022)	criteria provided, conflicting interpretations
Select item 170812810.	NM_000338.3(SLC12A1):c.572T>A (p.Ile191Asn) GRCh37: Chr15:48513137 GRCh38: Chr15:48220940	CTXN2-AS1, SLC12A1	I191N	Bartter disease type 1	Likely pathogenic (Dec 12, 2021)	criteria provided, single submitter
Select item 168755311.	NM_000338.3(SLC12A1):c.1652C>T (p.Thr551Ile) GRCh37: Chr15:48539625 GRCh38: Chr15:48247428	SLC12A1	T551I	Bartter disease type 1	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 163570512.	NM_000338.3(SLC12A1):c.1653T>G (p.Thr551=) GRCh37: Chr15:48539626 GRCh38: Chr15:48247429	SLC12A1		not provided, Bartter disease type 1	Likely benign (Jul 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 159981113.	NM_000338.3(SLC12A1):c.2095G>A (p.Asp699Asn) GRCh37: Chr15:48551449 GRCh38: Chr15:48259252	SLC12A1	D699N	not provided, Bartter disease type 1	Benign/Likely benign (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153893214.	NM_000338.3(SLC12A1):c.1786+18C>T GRCh37: Chr15:48541891 GRCh38: Chr15:48249694	SLC12A1		not provided, Bartter disease type 1	Likely benign (Dec 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 149144215.	NM_000338.3(SLC12A1):c.2206C>A (p.Gln736Lys) GRCh37: Chr15:48559809 GRCh38: Chr15:48267612	SLC12A1	Q736K	Bartter disease type 1, not provided	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148299316.	NM_000338.3(SLC12A1):c.2953A>G (p.Lys985Glu) GRCh37: Chr15:48584054 GRCh38: Chr15:48291857	SLC12A1	K985E	not provided, Bartter disease type 1	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 147537717.	NM_000338.3(SLC12A1):c.394C>T (p.Leu132Phe) GRCh37: Chr15:48500310 GRCh38: Chr15:48208113	CTXN2-AS1, SLC12A1	L132F	Bartter disease type 1, not provided	Uncertain significance (Feb 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144607718.	NM_000338.3(SLC12A1):c.3053C>T (p.Pro1018Leu) GRCh37: Chr15:48591429 GRCh38: Chr15:48299232	SLC12A1	P1018L	not provided, Bartter disease type 1	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144018519.	NM_000338.3(SLC12A1):c.2654C>T (p.Ser885Leu) GRCh37: Chr15:48580264 GRCh38: Chr15:48288067	SLC12A1	S885L	Bartter disease type 1, not provided	Uncertain significance (Apr 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140797320.	NM_000338.3(SLC12A1):c.1432G>A (p.Gly478Arg) GRCh37: Chr15:48537081 GRCh38: Chr15:48244884	SLC12A1	G478R	not provided, Bartter disease type 1	Conflicting interpretations of pathogenicity (Sep 2, 2022)	criteria provided, conflicting interpretations
Select item 140797221.	NM_000338.3(SLC12A1):c.1103A>G (p.Glu368Gly) GRCh37: Chr15:48527089 GRCh38: Chr15:48234892	SLC12A1	E368G	not provided, Bartter disease type 1	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 140023822.	NM_000338.3(SLC12A1):c.2507A>T (p.Gln836Leu) GRCh37: Chr15:48577324 GRCh38: Chr15:48285127	SLC12A1	Q836L	not provided, Bartter disease type 1	Uncertain significance (Mar 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137599823.	NM_000338.3(SLC12A1):c.118A>G (p.Thr40Ala) GRCh37: Chr15:48500034 GRCh38: Chr15:48207837	CTXN2-AS1, SLC12A1	T40A	not provided, Bartter disease type 1	Uncertain significance (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137410424.	NM_000338.3(SLC12A1):c.2852G>A (p.Arg951His) GRCh37: Chr15:48580692 GRCh38: Chr15:48288495	SLC12A1	R951H	Bartter disease type 1, not provided	Uncertain significance (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135719625.	NM_000338.3(SLC12A1):c.3256C>A (p.Leu1086Ile) GRCh37: Chr15:48595038 GRCh38: Chr15:48302841	SLC12A1	L1086I	Bartter disease type 1, not provided	Uncertain significance (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134324926.	NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln) GRCh37: Chr15:48536965 GRCh38: Chr15:48244768	SLC12A1	R439Q	not provided, Bartter disease type 1	Pathogenic/Likely pathogenic (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134202027.	NM_000338.3(SLC12A1):c.223C>T (p.Gln75Ter) GRCh37: Chr15:48500139 GRCh38: Chr15:48207942	CTXN2-AS1, SLC12A1	Q75*	not provided, Bartter disease type 1	Pathogenic (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133360128.	NM_000338.3(SLC12A1):c.1927del (p.Thr643fs) GRCh37: Chr15:48543952 GRCh38: Chr15:48251755	LOC126862123, SLC12A1	T643fs	Bartter disease type 1	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 132359829.	NM_000338.3(SLC12A1):c.2042+2T>A GRCh37: Chr15:48548109 GRCh38: Chr15:48255912	SLC12A1		Bartter disease type 1	Pathogenic (Oct 5, 2019)	criteria provided, single submitter
Select item 132025830.	NM_000338.3(SLC12A1):c.382C>T (p.Arg128Ter) GRCh37: Chr15:48500298 GRCh38: Chr15:48208101	CTXN2-AS1, SLC12A1	R128*	not provided, Bartter disease type 1	Pathogenic (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132025231.	NM_000338.3(SLC12A1):c.1679T>C (p.Leu560Pro) GRCh37: Chr15:48539652 GRCh38: Chr15:48247455	SLC12A1	L560P	Bartter disease type 1	Likely pathogenic (Oct 2, 2021)	criteria provided, single submitter
Select item 129970132.	NM_000338.3(SLC12A1):c.2805dup (p.Trp936fs) GRCh37: Chr15:48580638-48580639 GRCh38: Chr15:48288441-48288442	SLC12A1	W936fs	Bartter disease type 1	Likely pathogenic (Sep 15, 2020)	criteria provided, single submitter
Select item 129939533.	NM_000338.3(SLC12A1):c.2653T>C (p.Ser885Pro) GRCh37: Chr15:48580263 GRCh38: Chr15:48288066	SLC12A1	S885P	Bartter disease type 1	Uncertain significance (Feb 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 127193534.	NM_000338.3(SLC12A1):c.2296-21A>G GRCh37: Chr15:48561834 GRCh38: Chr15:48269637	SLC12A1		not provided, Bartter disease type 1	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 113291735.	NM_000338.3(SLC12A1):c.2223G>A (p.Lys741=) GRCh37: Chr15:48559826 GRCh38: Chr15:48267629	SLC12A1		not provided, Bartter disease type 1	Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106780036.	NM_000338.3(SLC12A1):c.3164+1G>A GRCh37: Chr15:48593580 GRCh38: Chr15:48301383	SLC12A1		not provided, Bartter disease type 1	Pathogenic/Likely pathogenic (May 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103976137.	NM_000338.3(SLC12A1):c.1355G>C (p.Gly452Ala) GRCh37: Chr15:48537004 GRCh38: Chr15:48244807	SLC12A1	G452A	Bartter disease type 1, not provided	Uncertain significance (Dec 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103416738.	NM_000338.3(SLC12A1):c.2282G>A (p.Arg761Gln) GRCh37: Chr15:48559885 GRCh38: Chr15:48267688	SLC12A1	R761Q	Bartter disease type 1	Uncertain significance (Sep 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102820339.	NM_000338.3(SLC12A1):c.1834G>A (p.Gly612Arg) GRCh37: Chr15:48543859 GRCh38: Chr15:48251662	LOC126862123, SLC12A1	G612R	Bartter disease type 1	Likely pathogenic (Sep 27, 2019)	criteria provided, single submitter
Select item 102820240.	NM_000338.3(SLC12A1):c.1300+5G>A GRCh37: Chr15:48533801 GRCh38: Chr15:48241604	SLC12A1		Bartter disease type 1	Uncertain significance (Jul 27, 2019)	criteria provided, single submitter
Select item 100855341.	NM_000338.3(SLC12A1):c.1981G>A (p.Val661Met) GRCh37: Chr15:48548046 GRCh38: Chr15:48255849	SLC12A1	V661M	not provided, Bartter disease type 1	Uncertain significance (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99476942.	NM_000338.3(SLC12A1):c.513A>C (p.Gln171His) GRCh37: Chr15:48512923 GRCh38: Chr15:48220726	SLC12A1	Q171H	Inborn genetic diseases, not provided, Bartter disease type 1	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 97592743.	NM_000338.3(SLC12A1):c.1832_1833del (p.Phe611fs) GRCh37: Chr15:48543854-48543855 GRCh38: Chr15:48251657-48251658	LOC126862123, SLC12A1	F611fs	Bartter disease type 1	Uncertain significance (Sep 27, 2017)	criteria provided, single submitter
Select item 97099444.	NM_000338.3(SLC12A1):c.2573G>T (p.Arg858Leu) GRCh37: Chr15:48577390 GRCh38: Chr15:48285193	SLC12A1	R858L	not provided, Bartter disease type 1	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95392745.	NM_000338.3(SLC12A1):c.2342A>G (p.Tyr781Cys) GRCh37: Chr15:48561901 GRCh38: Chr15:48269704	SLC12A1	Y781C	not provided, Bartter disease type 1	Uncertain significance (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93088446.	NM_000338.3(SLC12A1):c.1468T>G (p.Ser490Ala) GRCh37: Chr15:48539121 GRCh38: Chr15:48246924	SLC12A1	S490A	Bartter disease type 1	Uncertain significance (Oct 12, 2018)	criteria provided, single submitter
Select item 88852747.	NM_000338.3(SLC12A1):c.1117C>T (p.Arg373Cys) GRCh37: Chr15:48527103 GRCh38: Chr15:48234906	SLC12A1	R373C	Bartter disease type 1	Uncertain significance (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88852648.	NM_000338.3(SLC12A1):c.807A>G (p.Ala269=) GRCh37: Chr15:48521468 GRCh38: Chr15:48229271	SLC12A1		not provided, Bartter disease type 1	Conflicting interpretations of pathogenicity (Dec 18, 2021)	criteria provided, conflicting interpretations
Select item 88852549.	NM_000338.3(SLC12A1):c.760C>G (p.Pro254Ala) GRCh37: Chr15:48521421 GRCh38: Chr15:48229224	SLC12A1	P254A	not provided, Bartter disease type 1	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88852450.	NM_000338.3(SLC12A1):c.724+15A>T GRCh37: Chr15:48518783 GRCh38: Chr15:48226586	SLC12A1		Bartter disease type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88852351.	NM_000338.3(SLC12A1):c.716T>C (p.Val239Ala) GRCh37: Chr15:48518760 GRCh38: Chr15:48226563	SLC12A1	V239A	Bartter disease type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88758252.	NM_000338.3(SLC12A1):c.*216A>C GRCh37: Chr15:48595298 GRCh38: Chr15:48303101	SLC12A1		Bartter disease type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88752353.	NM_000338.3(SLC12A1):c.2546A>G (p.Glu849Gly) GRCh37: Chr15:48577363 GRCh38: Chr15:48285166	SLC12A1	E849G	Bartter disease type 1	Uncertain significance (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88752254.	NM_000338.3(SLC12A1):c.2528C>T (p.Ala843Val) GRCh37: Chr15:48577345 GRCh38: Chr15:48285148	SLC12A1	A843V	Bartter disease type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88752155.	NM_000338.3(SLC12A1):c.2468A>C (p.Gln823Pro) GRCh37: Chr15:48566833 GRCh38: Chr15:48274636	SLC12A1	Q823P	Bartter disease type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88752056.	NM_000338.3(SLC12A1):c.2405A>G (p.Asp802Gly) GRCh37: Chr15:48566770 GRCh38: Chr15:48274573	SLC12A1	D802G	not provided, Bartter disease type 1, Inborn genetic diseases	Uncertain significance (Apr 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88751957.	NM_000338.3(SLC12A1):c.2272G>C (p.Asp758His) GRCh37: Chr15:48559875 GRCh38: Chr15:48267678	SLC12A1	D758H	Bartter disease type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88739658.	NM_000338.3(SLC12A1):c.*40C>T GRCh37: Chr15:48595122 GRCh38: Chr15:48302925	SLC12A1		Bartter disease type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88739559.	NM_000338.3(SLC12A1):c.3206T>G (p.Leu1069Trp) GRCh37: Chr15:48594988 GRCh38: Chr15:48302791	SLC12A1	L1069W	Bartter disease type 1	Uncertain significance (Jul 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88739460.	NM_000338.3(SLC12A1):c.3165-5A>T GRCh37: Chr15:48594942 GRCh38: Chr15:48302745	SLC12A1		Bartter disease type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88733261.	NM_000338.3(SLC12A1):c.2209G>A (p.Ala737Thr) GRCh37: Chr15:48559812 GRCh38: Chr15:48267615	SLC12A1	A737T	Bartter disease type 1, not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Sep 26, 2022)	criteria provided, conflicting interpretations
Select item 88733162.	NM_000338.3(SLC12A1):c.2195T>A (p.Met732Lys) GRCh37: Chr15:48559798 GRCh38: Chr15:48267601	SLC12A1	M732K	Bartter disease type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88733063.	NM_000338.3(SLC12A1):c.2155-10T>A GRCh37: Chr15:48559748 GRCh38: Chr15:48267551	SLC12A1		Bartter disease type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88727164.	NM_000338.3(SLC12A1):c.463G>A (p.Gly155Ser) GRCh37: Chr15:48512873 GRCh38: Chr15:48220676	SLC12A1	G155S	Bartter disease type 1, not provided	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88727065.	NM_000338.3(SLC12A1):c.462C>T (p.Asn154=) GRCh37: Chr15:48512872 GRCh38: Chr15:48220675	SLC12A1		Bartter disease type 1, not provided	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 88726966.	NM_000338.3(SLC12A1):c.434C>A (p.Thr145Asn) GRCh37: Chr15:48512844 GRCh38: Chr15:48220647	SLC12A1	T145N	Bartter disease type 1	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88639567.	NM_000338.3(SLC12A1):c.3103C>A (p.Arg1035Ser) GRCh37: Chr15:48593518 GRCh38: Chr15:48301321	SLC12A1	R1035S	Bartter disease type 1	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88639468.	NM_000338.3(SLC12A1):c.2919C>G (p.Ile973Met) GRCh37: Chr15:48584020 GRCh38: Chr15:48291823	SLC12A1	I973M	Bartter disease type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88633669.	NM_000338.3(SLC12A1):c.1903G>A (p.Glu635Lys) GRCh37: Chr15:48543928 GRCh38: Chr15:48251731	LOC126862123, SLC12A1	E635K	Bartter disease type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88627470.	NM_000338.3(SLC12A1):c.59G>A (p.Arg20His) GRCh37: Chr15:48499975 GRCh38: Chr15:48207778	SLC12A1	R20H	Bartter disease type 1, not provided	Conflicting interpretations of pathogenicity (Jun 18, 2022)	criteria provided, conflicting interpretations
Select item 88627371.	NM_000338.3(SLC12A1):c.-68G>T GRCh37: Chr15:48499849 GRCh38: Chr15:48207652	SLC12A1		Bartter disease type 1	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88536672.	NM_000338.3(SLC12A1):c.*1042C>T GRCh37: Chr15:48596124 GRCh38: Chr15:48303927	SLC12A1		Bartter disease type 1	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88443873.	NM_000338.3(SLC12A1):c.*862A>G GRCh37: Chr15:48595944 GRCh38: Chr15:48303747	SLC12A1		Bartter disease type 1	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88443774.	NM_000338.3(SLC12A1):c.*629G>A GRCh37: Chr15:48595711 GRCh38: Chr15:48303514	SLC12A1		Bartter disease type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88443675.	NM_000338.3(SLC12A1):c.*593A>G GRCh37: Chr15:48595675 GRCh38: Chr15:48303478	SLC12A1		Bartter disease type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88443576.	NM_000338.3(SLC12A1):c.*496C>T GRCh37: Chr15:48595578 GRCh38: Chr15:48303381	SLC12A1		Bartter disease type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88443477.	NM_000338.3(SLC12A1):c.*436C>G GRCh37: Chr15:48595518 GRCh38: Chr15:48303321	SLC12A1		Bartter disease type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88437078.	NM_000338.3(SLC12A1):c.2825G>C (p.Arg942Thr) GRCh37: Chr15:48580665 GRCh38: Chr15:48288468	SLC12A1	R942T	Inborn genetic diseases, Bartter disease type 1	Uncertain significance (Dec 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88436979.	NM_000338.3(SLC12A1):c.2785A>G (p.Ile929Val) GRCh37: Chr15:48580625 GRCh38: Chr15:48288428	SLC12A1	I929V	Bartter disease type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88436880.	NM_000338.3(SLC12A1):c.2676C>T (p.Asn892=) GRCh37: Chr15:48580286 GRCh38: Chr15:48288089	SLC12A1		Bartter disease type 1	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 88431381.	NM_000338.3(SLC12A1):c.1686G>A (p.Ala562=) GRCh37: Chr15:48541773 GRCh38: Chr15:48249576	SLC12A1		not provided, Bartter disease type 1	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88431282.	NM_000338.3(SLC12A1):c.1536T>C (p.Leu512=) GRCh37: Chr15:48539189 GRCh38: Chr15:48246992	SLC12A1		not provided, Bartter disease type 1	Conflicting interpretations of pathogenicity (May 8, 2021)	criteria provided, conflicting interpretations
Select item 88431183.	NM_000338.3(SLC12A1):c.1494G>A (p.Ala498=) GRCh37: Chr15:48539147 GRCh38: Chr15:48246950	SLC12A1		Bartter disease type 1	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88431084.	NM_000338.3(SLC12A1):c.1300+12G>A GRCh37: Chr15:48533808 GRCh38: Chr15:48241611	SLC12A1		not provided, Bartter disease type 1	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88430985.	NM_000338.3(SLC12A1):c.1216-13T>A GRCh37: Chr15:48533699 GRCh38: Chr15:48241502	SLC12A1		not provided, Bartter disease type 1	Benign/Likely benign (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87270886.	NM_000338.3(SLC12A1):c.2242del (p.Tyr748fs) GRCh37: Chr15:48559841 GRCh38: Chr15:48267644	SLC12A1	Y748fs	not provided, Bartter disease type 1	Pathogenic (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80546787.	NM_000338.3(SLC12A1):c.816T>C (p.Val272=) GRCh37: Chr15:48521477 GRCh38: Chr15:48229280	CTXN2-AS1, SLC12A1		not provided, Bartter disease type 1	Likely benign (Aug 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 78548788.	NM_000338.3(SLC12A1):c.415G>A (p.Ala139Thr) GRCh37: Chr15:48500331 GRCh38: Chr15:48208134	SLC12A1	A139T	not provided, Bartter disease type 1	Benign (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 78461689.	NM_000338.3(SLC12A1):c.695C>T (p.Ala232Val) GRCh37: Chr15:48518739 GRCh38: Chr15:48226542	SLC12A1	A232V	Bartter disease type 1, not provided	Benign/Likely benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77855090.	NM_000338.3(SLC12A1):c.189G>A (p.Arg63=) GRCh37: Chr15:48500105 GRCh38: Chr15:48207908	CTXN2-AS1, SLC12A1		Bartter disease type 1, not provided	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77809891.	NM_000338.3(SLC12A1):c.2067G>A (p.Gly689=) GRCh37: Chr15:48551421 GRCh38: Chr15:48259224	SLC12A1		not provided, Bartter disease type 1	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 75597892.	NM_000338.3(SLC12A1):c.2281C>A (p.Arg761=) GRCh37: Chr15:48559884 GRCh38: Chr15:48267687	SLC12A1		not provided, Bartter disease type 1	Likely benign (Nov 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 75394993.	NM_000338.3(SLC12A1):c.3054G>A (p.Pro1018=) GRCh37: Chr15:48591430 GRCh38: Chr15:48299233	SLC12A1		Bartter disease type 1, not provided	Conflicting interpretations of pathogenicity (Sep 29, 2022)	criteria provided, conflicting interpretations
Select item 75157594.	NM_000338.3(SLC12A1):c.1561-8T>G GRCh37: Chr15:48539526 GRCh38: Chr15:48247329	SLC12A1		Bartter disease type 1, not provided	Likely benign (Jun 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73046295.	NM_000338.3(SLC12A1):c.1161T>C (p.Phe387=) GRCh37: Chr15:48527147 GRCh38: Chr15:48234950	SLC12A1		not provided, Bartter disease type 1	Conflicting interpretations of pathogenicity (Feb 7, 2018)	criteria provided, conflicting interpretations
Select item 71465396.	NM_000338.3(SLC12A1):c.2160G>A (p.Pro720=) GRCh37: Chr15:48559763 GRCh38: Chr15:48267566	SLC12A1		not provided, Bartter disease type 1	Benign/Likely benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62322997.	NM_000338.3(SLC12A1):c.2834_2873+12del GRCh37: Chr15:48580672-48580723 GRCh38: Chr15:48288475-48288526	SLC12A1		Bartter disease type 1	Likely pathogenic (Apr 2, 2018)	criteria provided, single submitter
Select item 58659998.	NM_000338.3(SLC12A1):c.2435T>G (p.Ile812Arg) GRCh37: Chr15:48566800 GRCh38: Chr15:48274603	SLC12A1	I812R	not provided, Bartter disease type 1	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 58659799.	NM_000338.3(SLC12A1):c.206G>A (p.Cys69Tyr) GRCh37: Chr15:48500122 GRCh38: Chr15:48207925	CTXN2-AS1, SLC12A1	C69Y	not provided, Bartter disease type 1	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 522964100.	NM_000338.3(SLC12A1):c.724+547C>T GRCh37: Chr15:48519315 GRCh38: Chr15:48227118	CTXN2-AS1, SLC12A1	T223M	Bartter disease type 1	Uncertain significance (May 3, 2020)	criteria provided, single submitter

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