ClinVar for MedGen (Select 355430) - ClinVar

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Items: 80

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16959981.	NM_057176.3(BSND):c.467C>A (p.Ala156Asp) GRCh37: Chr1:55472864 GRCh38: Chr1:55007191	BSND	A156D	Bartter disease type 4A, not specified	Uncertain significance (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16957702.	NM_057176.3(BSND):c.514G>A (p.Glu172Lys) GRCh37: Chr1:55472911 GRCh38: Chr1:55007238	BSND	E172K	Bartter disease type 4A, not provided	Uncertain significance (May 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16933573.	NM_057176.3(BSND):c.670C>A (p.Pro224Thr) GRCh37: Chr1:55474008 GRCh38: Chr1:55008335	BSND	P224T	Bartter disease type 4A, not provided	Uncertain significance (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14166034.	NM_057176.3(BSND):c.737C>T (p.Ala246Val) GRCh37: Chr1:55474075 GRCh38: Chr1:55008402	BSND	A246V	not provided, Bartter disease type 4A	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13290515.	NM_057176.3(BSND):c.673C>T (p.Gln225Ter) GRCh37: Chr1:55474011 GRCh38: Chr1:55008338	BSND	Q225*	not specified, not provided, Bartter disease type 4A	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13239856.	NM_057176.3(BSND):c.97G>C (p.Val33Leu) GRCh37: Chr1:55464956 GRCh38: Chr1:54999283	BSND	V33L	Bartter syndrome, Bartter disease type 4A	Pathogenic/Likely pathogenic (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13118337.	NM_057176.3(BSND):c.868A>G (p.Lys290Glu) GRCh37: Chr1:55474206 GRCh38: Chr1:55008533	BSND	K290E	not provided, Bartter disease type 4A	Uncertain significance (Jul 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12563278.	NM_057176.3(BSND):c.763G>C (p.Glu255Gln) GRCh37: Chr1:55474101 GRCh38: Chr1:55008428	BSND	E255Q	Bartter disease type 4A, not provided	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11791159.	GRCh37/hg19 1p32.3(chr1:55464606-55482845) GRCh37: Chr1:55464606-55482845	BSND		Bartter disease type 4A	Pathogenic	no assertion criteria provided
Select item 115119210.	NM_057176.3(BSND):c.501C>T (p.Gly167=) GRCh37: Chr1:55472898 GRCh38: Chr1:55007225	BSND		not provided, Bartter disease type 4A	Likely benign (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111489911.	NM_057176.3(BSND):c.831G>A (p.Glu277=) GRCh37: Chr1:55474169 GRCh38: Chr1:55008496	BSND		not provided, Bartter disease type 4A	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110632312.	NM_057176.3(BSND):c.411G>A (p.Gly137=) GRCh37: Chr1:55472808 GRCh38: Chr1:55007135	BSND		Bartter disease type 4A, not provided	Likely benign (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110044913.	NM_057176.3(BSND):c.288G>A (p.Pro96=) GRCh37: Chr1:55472685 GRCh38: Chr1:55007012	BSND		not provided, Bartter disease type 4A	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108615314.	NM_057176.3(BSND):c.546C>T (p.Pro182=) GRCh37: Chr1:55472943 GRCh38: Chr1:55007270	BSND		not provided, Bartter disease type 4A	Likely benign (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106456515.	NM_057176.3(BSND):c.64G>A (p.Gly22Ser) GRCh37: Chr1:55464923 GRCh38: Chr1:54999250	BSND	G22S	Bartter disease type 4A	Uncertain significance (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99242616.	NM_057176.3(BSND):c.64G>C (p.Gly22Arg) GRCh37: Chr1:55464923 GRCh38: Chr1:54999250	BSND	G22R	Bartter disease type 4A	Uncertain significance (Feb 6, 2020)	no assertion criteria provided
Select item 92999317.	NM_057176.3(BSND):c.287C>T (p.Pro96Leu) GRCh37: Chr1:55472684 GRCh38: Chr1:55007011	BSND	P96L	Bartter disease type 4A, not specified	Uncertain significance (Feb 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87631718.	NM_057176.3(BSND):c.294T>C (p.Tyr98=) GRCh37: Chr1:55472691 GRCh38: Chr1:55007018	BSND		not provided, Bartter disease type 4A	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 87631619.	NM_057176.3(BSND):c.261C>T (p.Ala87=) GRCh37: Chr1:55470778 GRCh38: Chr1:55005105	BSND		not provided, Bartter disease type 4A	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 87622720.	NM_057176.3(BSND):c.*56T>C GRCh37: Chr1:55474357 GRCh38: Chr1:55008684	BSND		Bartter disease type 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87527121.	NM_057176.3(BSND):c.*15G>A GRCh37: Chr1:55474316 GRCh38: Chr1:55008643	BSND		Bartter disease type 4A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87527022.	NM_057176.3(BSND):c.*6T>C GRCh37: Chr1:55474307 GRCh38: Chr1:55008634	BSND		Bartter disease type 4A	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 87526923.	NM_057176.3(BSND):c.758C>T (p.Pro253Leu) GRCh37: Chr1:55474096 GRCh38: Chr1:55008423	BSND	P253L	Bartter disease type 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87526824.	NM_057176.3(BSND):c.635A>G (p.Asn212Ser) GRCh37: Chr1:55473973 GRCh38: Chr1:55008300	BSND	N212S	not provided, Bartter disease type 4A	Uncertain significance (Dec 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87434425.	NM_057176.3(BSND):c.393G>T (p.Leu131Phe) GRCh37: Chr1:55472790 GRCh38: Chr1:55007117	BSND	L131F	not provided, Bartter disease type 4A, not specified	Uncertain significance (Aug 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87434326.	NM_057176.3(BSND):c.306G>T (p.Trp102Cys) GRCh37: Chr1:55472703 GRCh38: Chr1:55007030	BSND	W102C	Bartter disease type 4A	Uncertain significance (Apr 20, 2018)	criteria provided, single submitter
Select item 83772027.	NM_057176.3(BSND):c.272+1G>T GRCh37: Chr1:55470790 GRCh38: Chr1:55005117	BSND		Bartter disease type 4A, not provided	Likely pathogenic (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 79503928.	NM_057176.3(BSND):c.282C>T (p.Pro94=) GRCh37: Chr1:55472679 GRCh38: Chr1:55007006	BSND		not provided, Bartter disease type 4A	Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76546529.	NM_057176.3(BSND):c.9C>T (p.Asp3=) GRCh37: Chr1:55464868 GRCh38: Chr1:54999195	BSND		not provided, Bartter disease type 4A	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74028630.	NM_057176.3(BSND):c.547G>A (p.Gly183Ser) GRCh37: Chr1:55472944 GRCh38: Chr1:55007271	BSND	G183S	not provided, Bartter disease type 4A	Conflicting interpretations of pathogenicity (Oct 6, 2022)	criteria provided, conflicting interpretations
Select item 70954731.	NM_057176.3(BSND):c.548+10T>C GRCh37: Chr1:55472955 GRCh38: Chr1:55007282	BSND		not provided, Bartter disease type 4A	Likely benign (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66719732.	NM_057176.3(BSND):c.10G>A (p.Glu4Lys) GRCh37: Chr1:55464869 GRCh38: Chr1:54999196	BSND	E4K	not provided, not specified, Bartter disease type 4A	Uncertain significance (Feb 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 66707233.	NM_057176.3(BSND):c.225A>G (p.Pro75=) GRCh37: Chr1:55470742 GRCh38: Chr1:55005069	BSND		not provided, not specified, Bartter disease type 4A	Likely benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63481034.	NM_057176.3(BSND):c.52C>G (p.Leu18Val) GRCh37: Chr1:55464911 GRCh38: Chr1:54999238	BSND	L18V	Bartter disease type 4A	Uncertain significance	criteria provided, single submitter
Select item 63160935.	NM_057176.3(BSND):c.402del (p.Glu135fs) GRCh37: Chr1:55472799 GRCh38: Chr1:55007126	BSND	E135fs	Bartter disease type 4A	Uncertain significance (Oct 11, 2018)	criteria provided, single submitter
Select item 62014436.	NM_057176.3(BSND):c.262G>T (p.Glu88Ter) GRCh37: Chr1:55470779 GRCh38: Chr1:55005106	BSND	E88*	Bartter disease type 4A, not provided	Pathogenic (Jul 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 59085137.	NM_057176.3(BSND):c.452del (p.Pro151fs) GRCh37: Chr1:55472847 GRCh38: Chr1:55007174	BSND	P151fs	not provided, Bartter disease type 4A	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations
Select item 51748838.	NM_057176.3(BSND):c.770A>G (p.Gln257Arg) GRCh37: Chr1:55474108 GRCh38: Chr1:55008435	BSND	Q257R	not specified, Bartter disease type 4A, not provided	Uncertain significance (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50582739.	NM_057176.3(BSND):c.810C>T (p.Tyr270=) GRCh37: Chr1:55474148 GRCh38: Chr1:55008475	BSND		not specified, not provided, Bartter disease type 4A	Likely benign (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50517140.	NM_057176.3(BSND):c.859G>T (p.Glu287Ter) GRCh37: Chr1:55474197 GRCh38: Chr1:55008524	BSND	E287*	not specified, Inborn genetic diseases, not provided, Bartter disease type 4A	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29768241.	NM_057176.3(BSND):c.*94A>G GRCh37: Chr1:55474395 GRCh38: Chr1:55008722	BSND		not provided, Bartter disease type 4A	Benign (Jun 16, 2018)	criteria provided, multiple submitters, no conflicts
Select item 29768142.	NM_057176.3(BSND):c.*24A>C GRCh37: Chr1:55474325 GRCh38: Chr1:55008652	BSND		not provided, Bartter disease type 4A	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29768043.	NM_057176.3(BSND):c.713T>A (p.Phe238Tyr) GRCh37: Chr1:55474051 GRCh38: Chr1:55008378	BSND	F238Y	Bartter disease type 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29767944.	NM_057176.3(BSND):c.696G>A (p.Arg232=) GRCh37: Chr1:55474034 GRCh38: Chr1:55008361	BSND		not provided, Bartter disease type 4A	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 29767845.	NM_057176.3(BSND):c.604G>A (p.Asp202Asn) GRCh37: Chr1:55473942 GRCh38: Chr1:55008269	BSND	D202N	Bartter disease type 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29767746.	NM_057176.3(BSND):c.216C>A (p.Ile72=) GRCh37: Chr1:55470733 GRCh38: Chr1:55005060	BSND		not provided, Bartter disease type 4A	Conflicting interpretations of pathogenicity (Oct 16, 2022)	criteria provided, conflicting interpretations
Select item 29767647.	NM_057176.3(BSND):c.-25C>T GRCh37: Chr1:55464835 GRCh38: Chr1:54999162	BSND		not specified, Bartter disease type 4A	Benign/Likely benign (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 29767548.	NM_057176.3(BSND):c.-34G>A GRCh37: Chr1:55464826 GRCh38: Chr1:54999153	BSND		Bartter disease type 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29767449.	NM_057176.3(BSND):c.-70C>G GRCh37: Chr1:55464790 GRCh38: Chr1:54999117	BSND		not provided, Bartter disease type 4A	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29767350.	NM_057176.3(BSND):c.-117T>C GRCh37: Chr1:55464743 GRCh38: Chr1:54999070	BSND		not provided, Bartter disease type 4A	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29767251.	NM_057176.3(BSND):c.-156G>C GRCh37: Chr1:55464704 GRCh38: Chr1:54999031	BSND		Bartter disease type 4A	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29767152.	NM_057176.3(BSND):c.-175C>T GRCh37: Chr1:55464685 GRCh38: Chr1:54999012	BSND		Bartter disease type 4A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29767053.	NM_057176.3(BSND):c.-241G>A GRCh37: Chr1:55464619 GRCh38: Chr1:54998946	BSND		not provided, Bartter disease type 4A	Benign (Nov 10, 2018)	criteria provided, multiple submitters, no conflicts
Select item 29080854.	NM_057176.3(BSND):c.16A>G (p.Thr6Ala) GRCh37: Chr1:55464875 GRCh38: Chr1:54999202	BSND	T6A	not provided, Bartter disease type 4A	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 22846355.	NM_057176.3(BSND):c.482C>T (p.Ala161Val) GRCh37: Chr1:55472879 GRCh38: Chr1:55007206	BSND	A161V	Bartter disease type 4A, not specified	Uncertain significance (Aug 23, 2019)	criteria provided, multiple submitters, no conflicts
Select item 22719156.	NM_057176.3(BSND):c.309G>C (p.Glu103Asp) GRCh37: Chr1:55472706 GRCh38: Chr1:55007033	BSND	E103D	Inborn genetic diseases, not specified, Bartter disease type 4A, not provided	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 22718957.	NM_057176.3(BSND):c.183C>T (p.Thr61=) GRCh37: Chr1:55470700 GRCh38: Chr1:55005027	BSND		not specified, Bartter disease type 4A, not provided	Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22718858.	NM_057176.3(BSND):c.102C>T (p.Tyr34=) GRCh37: Chr1:55464961 GRCh38: Chr1:54999288	BSND		not specified, not provided, Bartter disease type 4A	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 22646659.	NM_057176.3(BSND):c.597T>C (p.Asp199=) GRCh37: Chr1:55473935 GRCh38: Chr1:55008262	BSND		not specified, not provided, Bartter disease type 4A	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22646560.	NM_057176.3(BSND):c.459C>T (p.Asp153=) GRCh37: Chr1:55472856 GRCh38: Chr1:55007183	BSND		not specified, not provided, Bartter disease type 4A	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22530761.	NM_057176.3(BSND):c.893G>A (p.Gly298Glu) GRCh37: Chr1:55474231 GRCh38: Chr1:55008558	BSND	G298E	not provided, Bartter disease type 4A	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 17829162.	NM_057176.3(BSND):c.457G>A (p.Asp153Asn) GRCh37: Chr1:55472854 GRCh38: Chr1:55007181	BSND	D153N	Inborn genetic diseases, not specified, Bartter disease type 4A, not provided	Conflicting interpretations of pathogenicity (Feb 27, 2023)	criteria provided, conflicting interpretations
Select item 16280763.	NM_057176.3(BSND):c.872A>G (p.Glu291Gly) GRCh37: Chr1:55474210 GRCh38: Chr1:55008537	BSND	E291G	not specified, not provided, Bartter disease type 4A	Uncertain significance (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4655364.	NM_057176.3(BSND):c.924G>A (p.Pro308=) GRCh37: Chr1:55474262 GRCh38: Chr1:55008589	BSND		not specified, not provided, Bartter disease type 4A	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4655265.	NM_057176.3(BSND):c.917T>C (p.Leu306Pro) GRCh37: Chr1:55474255 GRCh38: Chr1:55008582	BSND	L306P	not specified, not provided, Bartter disease type 4A	Conflicting interpretations of pathogenicity (Dec 23, 2022)	criteria provided, conflicting interpretations
Select item 4655066.	NM_057176.3(BSND):c.63C>T (p.Leu21=) GRCh37: Chr1:55464922 GRCh38: Chr1:54999249	BSND		not specified, not provided, Bartter disease type 4A	Benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4654967.	NM_057176.3(BSND):c.189C>T (p.Val63=) GRCh37: Chr1:55470706 GRCh38: Chr1:55005033	BSND		not specified, not provided, Bartter disease type 4A	Benign/Likely benign (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4654768.	NM_057176.3(BSND):c.177+15G>C GRCh37: Chr1:55465051 GRCh38: Chr1:54999378	BSND		not specified, not provided, Bartter disease type 4A	Benign/Likely benign (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4654669.	NM_057176.3(BSND):c.177+11G>A GRCh37: Chr1:55465047 GRCh38: Chr1:54999374	BSND		not specified, not provided, Bartter disease type 4A	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4654570.	NM_057176.3(BSND):c.127G>A (p.Val43Ile) GRCh37: Chr1:55464986 GRCh38: Chr1:54999313	BSND	V43I	not specified, not provided, Bartter disease type 4A	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 438971.	NM_057176.3(BSND):c.10G>T (p.Glu4Ter) GRCh37: Chr1:55464869 GRCh38: Chr1:54999196	BSND	E4*	not provided, Bartter disease type 4A, Hearing impairment	Pathogenic (Apr 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 438872.	NM_057176.3(BSND):c.35T>C (p.Ile12Thr) GRCh37: Chr1:55464894 GRCh38: Chr1:54999221	BSND	I12T	Bartter syndrome, not provided, Bartter disease type 4A	Conflicting interpretations of pathogenicity (Aug 15, 2022)	criteria provided, conflicting interpretations
Select item 438773.	NM_057176.3(BSND):c.139G>A (p.Gly47Arg) GRCh37: Chr1:55464998 GRCh38: Chr1:54999325	BSND	G47R	not provided, Bartter disease type 4A	Pathogenic (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 438674.	NM_057176.3(BSND):c.23G>T (p.Arg8Leu) GRCh37: Chr1:55464882 GRCh38: Chr1:54999209	BSND	R8L	Bartter disease type 4A	Pathogenic (Nov 1, 2001)	no assertion criteria provided
Select item 438575.	NM_057176.3(BSND):c.28G>A (p.Gly10Ser) GRCh37: Chr1:55464887 GRCh38: Chr1:54999214	BSND	G10S	Bartter syndrome	Pathogenic (Jun 27, 2023)	criteria provided, single submitter
Select item 438476.	NM_057176.3(BSND):c.3G>A (p.Met1Ile) GRCh37: Chr1:55464862 GRCh38: Chr1:54999189	BSND	M1I	not provided, Bartter disease type 4A	Pathogenic/Likely pathogenic (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 438377.	NM_057176.3(BSND):c.273-887_*576del GRCh37: Chr1:55471779-55474873 GRCh38: Chr1:55006106-55009200	BSND		Bartter disease type 4A	Pathogenic (Nov 1, 2001)	no assertion criteria provided
Select item 438278.	NM_057176.3(BSND):c.157_177+20del GRCh37: Chr1:55465016-55465056 GRCh38: Chr1:54999343-54999383	BSND		Bartter disease type 4A	Pathogenic (Nov 1, 2001)	no assertion criteria provided
Select item 438179.	NM_057176.3(BSND):c.22C>T (p.Arg8Trp) GRCh37: Chr1:55464881 GRCh38: Chr1:54999208	BSND	R8W	Bartter syndrome, not provided	Pathogenic/Likely pathogenic (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 438080.	NM_057176.3(BSND):c.1A>T (p.Met1Leu) GRCh37: Chr1:55464860 GRCh38: Chr1:54999187	BSND	M1L	not provided, Bartter disease type 4A	Pathogenic (Sep 5, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 80