ClinVar for MedGen (Select 343428) - ClinVar

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Items: 79

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25725811.	NM_153766.3(KCNJ1):c.361G>A (p.Val121Met) GRCh37: Chr11:128709778 GRCh38: Chr11:128839883	KCNJ1	V121M, V138M, V140M	Bartter disease type 2	Uncertain significance	criteria provided, single submitter
Select item 24329992.	NM_153766.3(KCNJ1):c.-9A>G GRCh37: Chr11:128710147 GRCh38: Chr11:128840252	KCNJ1	T15A, T17A	Bartter disease type 2	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 24329983.	NM_153766.3(KCNJ1):c.80A>G (p.Asp27Gly) GRCh37: Chr11:128710059 GRCh38: Chr11:128840164	KCNJ1	D27G, D44G, D46G	Bartter disease type 2	Uncertain significance (Jun 17, 2021)	criteria provided, single submitter
Select item 18096784.	NM_153766.3(KCNJ1):c.*1C>G GRCh37: Chr11:128709019 GRCh38: Chr11:128839124	KCNJ1		Bartter disease type 2	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 18061505.	NM_153766.3(KCNJ1):c.513G>T (p.Lys171Asn) GRCh37: Chr11:128709626 GRCh38: Chr11:128839731	KCNJ1	K171N, K188N, K190N	Bartter disease type 2	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 18061476.	NM_153766.3(KCNJ1):c.302C>T (p.Pro101Leu) GRCh37: Chr11:128709837 GRCh38: Chr11:128839942	KCNJ1	P101L, P118L, P120L	Bartter disease type 2	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 18039857.	NM_153766.3(KCNJ1):c.251C>T (p.Ala84Val) GRCh37: Chr11:128709888 GRCh38: Chr11:128839993	KCNJ1	A101V, A103V, A84V	Bartter disease type 2	Likely pathogenic (Jun 7, 2022)	criteria provided, single submitter
Select item 15199568.	NM_153766.3(KCNJ1):c.-21-2122C>T GRCh37: Chr11:128712281 GRCh38: Chr11:128842386	KCNJ1	T11M	not provided, Bartter disease type 2	Uncertain significance (Mar 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14509549.	NM_153766.3(KCNJ1):c.1019T>G (p.Leu340Arg) GRCh37: Chr11:128709120 GRCh38: Chr11:128839225	KCNJ1	L359R, L357R, L340R	Inborn genetic diseases, not provided, Bartter disease type 2	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141823010.	NM_153766.3(KCNJ1):c.298A>G (p.Thr100Ala) GRCh37: Chr11:128709841 GRCh38: Chr11:128839946	KCNJ1	T119A, T117A, T100A	Inborn genetic diseases, not provided, Bartter disease type 2	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139039711.	NM_153766.3(KCNJ1):c.34C>T (p.Arg12Cys) GRCh37: Chr11:128710105 GRCh38: Chr11:128840210	KCNJ1	R12C, R31C, R29C	not provided, Bartter disease type 2	Uncertain significance (Oct 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 136290612.	NM_153766.3(KCNJ1):c.506G>A (p.Arg169His) GRCh37: Chr11:128709633 GRCh38: Chr11:128839738	KCNJ1	R169H, R186H, R188H	not provided, Bartter disease type 2	Uncertain significance (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134176713.	NM_153766.3(KCNJ1):c.1001del (p.Pro334fs) GRCh37: Chr11:128709138 GRCh38: Chr11:128839243	KCNJ1	P334fs, P351fs, P353fs	Bartter disease type 2	Uncertain significance (Jan 22, 2021)	criteria provided, single submitter
Select item 133362114.	NM_153766.3(KCNJ1):c.550C>T (p.Arg184Trp) GRCh37: Chr11:128709589 GRCh38: Chr11:128839694	KCNJ1	R184W, R201W, R203W	Bartter disease type 2	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 101189315.	NM_153766.3(KCNJ1):c.505C>A (p.Arg169Ser) GRCh37: Chr11:128709634 GRCh38: Chr11:128839739	KCNJ1	R169S, R186S, R188S	not provided, Bartter disease type 2	Uncertain significance (Jan 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 98859716.	NM_153766.3(KCNJ1):c.842C>G (p.Thr281Arg) GRCh37: Chr11:128709297 GRCh38: Chr11:128839402	KCNJ1	T281R, T298R, T300R	Bartter disease type 2	Uncertain significance (Jun 26, 2020)	criteria provided, single submitter
Select item 98153217.	NM_153766.3(KCNJ1):c.272C>T (p.Pro91Leu) GRCh37: Chr11:128709867 GRCh38: Chr11:128839972	KCNJ1	P108L, P110L, P91L	Bartter disease type 2	Likely pathogenic (Jul 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93561818.	NM_153766.3(KCNJ1):c.1116G>A (p.Met372Ile) GRCh37: Chr11:128709023 GRCh38: Chr11:128839128	KCNJ1	M389I, M372I, M391I	Bartter disease type 2, not provided	Uncertain significance (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87997819.	NM_153766.3(KCNJ1):c.87G>A (p.Arg29=) GRCh37: Chr11:128710052 GRCh38: Chr11:128840157	KCNJ1		Bartter disease type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87997720.	NM_153766.3(KCNJ1):c.156G>C (p.Thr52=) GRCh37: Chr11:128709983 GRCh38: Chr11:128840088	KCNJ1		Bartter disease type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87961821.	NM_153766.3(KCNJ1):c.521C>T (p.Thr174Met) GRCh37: Chr11:128709618 GRCh38: Chr11:128839723	KCNJ1	T193M, T191M, T174M	Bartter disease type 2, not provided	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 87961722.	NM_153766.3(KCNJ1):c.706G>A (p.Ala236Thr) GRCh37: Chr11:128709433 GRCh38: Chr11:128839538	KCNJ1	A236T, A253T, A255T	Bartter disease type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87956923.	NM_153766.3(KCNJ1):c.*737T>C GRCh37: Chr11:128708283 GRCh38: Chr11:128838388	KCNJ1		Bartter disease type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87956824.	NM_153766.3(KCNJ1):c.*801C>T GRCh37: Chr11:128708219 GRCh38: Chr11:128838324	KCNJ1		Bartter disease type 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87956725.	NM_153766.3(KCNJ1):c.*864G>T GRCh37: Chr11:128708156 GRCh38: Chr11:128838261	KCNJ1		Bartter disease type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87956626.	NM_153766.3(KCNJ1):c.*968T>A GRCh37: Chr11:128708052 GRCh38: Chr11:128838157	KCNJ1		Bartter disease type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87815727.	NM_153766.3(KCNJ1):c.798C>T (p.Thr266=) GRCh37: Chr11:128709341 GRCh38: Chr11:128839446	KCNJ1		Bartter disease type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87815628.	NM_153766.3(KCNJ1):c.842C>T (p.Thr281Ile) GRCh37: Chr11:128709297 GRCh38: Chr11:128839402	KCNJ1	T300I, T298I, T281I	Bartter disease type 2, not provided	Uncertain significance (Jul 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87815529.	NM_153766.3(KCNJ1):c.946G>A (p.Gly316Arg) GRCh37: Chr11:128709193 GRCh38: Chr11:128839298	KCNJ1	G333R, G335R, G316R	Bartter disease type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87718430.	NM_153766.3(KCNJ1):c.27C>T (p.Val9=) GRCh37: Chr11:128710112 GRCh38: Chr11:128840217	KCNJ1		Bartter disease type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87712331.	NM_153766.3(KCNJ1):c.*83G>A GRCh37: Chr11:128708937 GRCh38: Chr11:128839042	KCNJ1		Bartter disease type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87204332.	NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) GRCh37: Chr11:128709538 GRCh38: Chr11:128839643	KCNJ1	L218F, L220F, L201F	Bartter syndrome, not provided, Bartter disease type 2	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 87037533.	NM_153766.3(KCNJ1):c.602T>G (p.Leu201Arg) GRCh37: Chr11:128709537 GRCh38: Chr11:128839642	KCNJ1	L220R, L201R, L218R	Bartter disease type 2	Likely pathogenic (Jul 1, 2018)	criteria provided, single submitter
Select item 87037434.	NM_153766.3(KCNJ1):c.551G>A (p.Arg184Gln) GRCh37: Chr11:128709588 GRCh38: Chr11:128839693	KCNJ1	R201Q, R203Q, R184Q	Bartter disease type 2	Likely pathogenic (Jul 1, 2018)	criteria provided, single submitter
Select item 84543335.	NM_153766.3(KCNJ1):c.578G>C (p.Arg193Pro) GRCh37: Chr11:128709561 GRCh38: Chr11:128839666	KCNJ1	R193P, R212P, R210P	Bartter disease type 2, not provided	Uncertain significance (Mar 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83432236.	NM_153766.3(KCNJ1):c.-21-2138C>T GRCh37: Chr11:128712297 GRCh38: Chr11:128842402	KCNJ1	R6W	not provided, Bartter disease type 2	Uncertain significance (Apr 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 79036637.	NM_153766.3(KCNJ1):c.252G>A (p.Ala84=) GRCh37: Chr11:128709887 GRCh38: Chr11:128839992	KCNJ1		not provided, Bartter disease type 2	Benign/Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73541738.	NM_153766.3(KCNJ1):c.798C>A (p.Thr266=) GRCh37: Chr11:128709341 GRCh38: Chr11:128839446	KCNJ1		Bartter disease type 2, not provided	Conflicting interpretations of pathogenicity (Aug 26, 2022)	criteria provided, conflicting interpretations
Select item 69439339.	NM_153766.3(KCNJ1):c.504del (p.Lys168fs) GRCh37: Chr11:128709635 GRCh38: Chr11:128839740	KCNJ1	K168fs, K185fs, K187fs	Bartter disease type 2	Likely pathogenic (Sep 19, 2019)	criteria provided, single submitter
Select item 63165540.	NM_153766.3(KCNJ1):c.155C>T (p.Thr52Met) GRCh37: Chr11:128709984 GRCh38: Chr11:128840089	KCNJ1	T52M, T71M, T69M	not provided, Bartter syndrome, Bartter disease type 2	Conflicting interpretations of pathogenicity (Mar 24, 2023)	criteria provided, conflicting interpretations
Select item 63165441.	NM_153766.3(KCNJ1):c.626G>A (p.Gly209Glu) GRCh37: Chr11:128709513 GRCh38: Chr11:128839618	KCNJ1	G209E, G228E, G226E	Bartter disease type 2	Uncertain significance (Sep 7, 2017)	criteria provided, single submitter
Select item 58607642.	NM_153766.3(KCNJ1):c.867C>A (p.Cys289Ter) GRCh37: Chr11:128709272 GRCh38: Chr11:128839377	KCNJ1	C289, C308, C306*	Bartter disease type 2, not provided	Pathogenic/Likely pathogenic (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52379443.	NM_153766.3(KCNJ1):c.955C>T (p.Arg319Ter) GRCh37: Chr11:128709184 GRCh38: Chr11:128839289	KCNJ1	R319, R338, R336*	not provided, Bartter disease type 2	Likely pathogenic (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 44763244.	NM_153766.3(KCNJ1):c.705C>T (p.Asp235=) GRCh37: Chr11:128709434 GRCh38: Chr11:128839539	KCNJ1		not specified, not provided, Bartter disease type 2	Conflicting interpretations of pathogenicity (Oct 10, 2022)	criteria provided, conflicting interpretations
Select item 44763145.	NM_153766.3(KCNJ1):c.-21-2121G>A GRCh37: Chr11:128712280 GRCh38: Chr11:128842385	KCNJ1		not specified, not provided, Bartter disease type 2	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 37389746.	NM_153766.3(KCNJ1):c.262A>T (p.Lys88Ter) GRCh37: Chr11:128709877 GRCh38: Chr11:128839982	KCNJ1	K88, K107, K105*	Bartter disease type 2	Pathogenic	no assertion criteria provided
Select item 30358047.	NM_153766.3(KCNJ1):c.-21-2258G>A GRCh37: Chr11:128712417 GRCh38: Chr11:128842522	KCNJ1		Bartter disease type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30357948.	NM_153766.3(KCNJ1):c.-21-2197T>A GRCh37: Chr11:128712356 GRCh38: Chr11:128842461	KCNJ1		Bartter disease type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30357849.	NM_153766.3(KCNJ1):c.-21-2167T>C GRCh37: Chr11:128712326 GRCh38: Chr11:128842431	KCNJ1		Bartter disease type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30357750.	NM_153766.3(KCNJ1):c.17G>A (p.Arg6Gln) GRCh37: Chr11:128710122 GRCh38: Chr11:128840227	KCNJ1	R25Q, R6Q, R23Q	Bartter disease type 2, not provided	Conflicting interpretations of pathogenicity (Sep 29, 2022)	criteria provided, conflicting interpretations
Select item 30357651.	NM_153766.3(KCNJ1):c.35G>A (p.Arg12His) GRCh37: Chr11:128710104 GRCh38: Chr11:128840209	KCNJ1	R12H, R31H, R29H	Bartter disease type 2, not provided	Conflicting interpretations of pathogenicity (Jul 6, 2022)	criteria provided, conflicting interpretations
Select item 30357452.	NM_153766.3(KCNJ1):c.568C>T (p.Leu190Phe) GRCh37: Chr11:128709571 GRCh38: Chr11:128839676	KCNJ1	L190F, L209F, L207F	Bartter disease type 2, not provided	Likely benign (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30357353.	NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter) GRCh37: Chr11:128709562 GRCh38: Chr11:128839667	KCNJ1	R193, R212, R210*	Bartter disease type 2	Conflicting interpretations of pathogenicity (Sep 9, 2020)	criteria provided, conflicting interpretations
Select item 30357254.	NM_153766.3(KCNJ1):c.732C>T (p.Ile244=) GRCh37: Chr11:128709407 GRCh38: Chr11:128839512	KCNJ1		Bartter disease type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30357155.	NM_153766.3(KCNJ1):c.792G>A (p.Ala264=) GRCh37: Chr11:128709347 GRCh38: Chr11:128839452	KCNJ1		Bartter disease type 2, not provided	Benign/Likely benign (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30357056.	NM_153766.3(KCNJ1):c.837T>C (p.Asp279=) GRCh37: Chr11:128709302 GRCh38: Chr11:128839407	KCNJ1		Bartter disease type 2, not provided	Conflicting interpretations of pathogenicity (Jul 9, 2022)	criteria provided, conflicting interpretations
Select item 30356957.	NM_153766.3(KCNJ1):c.923C>T (p.Pro308Leu) GRCh37: Chr11:128709216 GRCh38: Chr11:128839321	KCNJ1	P308L, P327L, P325L	Bartter disease type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30356858.	NM_153766.3(KCNJ1):c.*16G>A GRCh37: Chr11:128709004 GRCh38: Chr11:128839109	KCNJ1		Bartter disease type 2, not provided	Likely benign (Feb 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30356659.	NM_153766.3(KCNJ1):c.*88G>A GRCh37: Chr11:128708932 GRCh38: Chr11:128839037	KCNJ1		Bartter disease type 2	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30356460.	NM_153766.3(KCNJ1):c.*348C>T GRCh37: Chr11:128708672 GRCh38: Chr11:128838777	KCNJ1		Bartter disease type 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30356361.	NM_153766.3(KCNJ1):c.*382G>A GRCh37: Chr11:128708638 GRCh38: Chr11:128838743	KCNJ1		Bartter disease type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30356262.	NM_153766.3(KCNJ1):c.*452G>A GRCh37: Chr11:128708568 GRCh38: Chr11:128838673	KCNJ1		Bartter disease type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30356063.	NM_153766.3(KCNJ1):c.*507C>T GRCh37: Chr11:128708513 GRCh38: Chr11:128838618	KCNJ1		Bartter disease type 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30355964.	NM_153766.3(KCNJ1):c.*553C>T GRCh37: Chr11:128708467 GRCh38: Chr11:128838572	KCNJ1		Bartter disease type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30355565.	NM_153766.3(KCNJ1):c.*964A>G GRCh37: Chr11:128708056 GRCh38: Chr11:128838161	KCNJ1		Bartter disease type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 23561566.	NM_153766.3(KCNJ1):c.1034A>G (p.Asp345Gly) GRCh37: Chr11:128709105 GRCh38: Chr11:128839210	KCNJ1	D345G, D362G, D364G	Inborn genetic diseases, not provided, Bartter disease type 2	Uncertain significance (May 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22539867.	NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys) GRCh37: Chr11:128709634 GRCh38: Chr11:128839739	KCNJ1	R169C, R188C, R186C	not specified, Bartter disease type 2, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 6439268.	NM_153766.3(KCNJ1):c.262A>G (p.Lys88Glu) GRCh37: Chr11:128709877 GRCh38: Chr11:128839982	KCNJ1	K88E, K107E, K105E	Bartter disease type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 6439169.	NM_153766.3(KCNJ1):c.242A>G (p.Tyr81Cys) GRCh37: Chr11:128709897 GRCh38: Chr11:128840002	KCNJ1	Y81C, Y100C, Y98C	not provided, Bartter disease type 2	Uncertain significance (Apr 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 916270.	NM_153766.3(KCNJ1):c.315T>A (p.Asn105Lys) GRCh37: Chr11:128709824 GRCh38: Chr11:128839929	KCNJ1	N105K, N124K, N122K	Bartter disease type 2	Pathogenic (Sep 11, 1998)	no assertion criteria provided
Select item 916171.	NM_153766.3(KCNJ1):c.265G>C (p.Asp89His) GRCh37: Chr11:128709874 GRCh38: Chr11:128839979	KCNJ1	D108H, D89H, D106H	Bartter disease type 2	Pathogenic (Jan 23, 1997)	no assertion criteria provided
Select item 916072.	NM_153766.3(KCNJ1):c.443G>A (p.Gly148Glu) GRCh37: Chr11:128709696 GRCh38: Chr11:128839801	KCNJ1	G167E, G148E, G165E	Bartter disease type 2	Pathogenic (Jan 1, 1997)	no assertion criteria provided
Select item 915973.	NM_153766.3(KCNJ1):c.535G>A (p.Ala179Thr) GRCh37: Chr11:128709604 GRCh38: Chr11:128839709	KCNJ1	A198T, A179T, A196T	Bartter disease type 2	Pathogenic (Jan 1, 1997)	no assertion criteria provided
Select item 915874.	NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr) GRCh37: Chr11:128709126 GRCh38: Chr11:128839231	KCNJ1	M338T, M355T, M357T	not specified, not provided	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 915775.	NM_153766.3(KCNJ1):c.584C>T (p.Ala195Val) GRCh37: Chr11:128709555 GRCh38: Chr11:128839660	KCNJ1	A195V, A212V, A214V	Bartter disease type 2	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 915676.	KCNJ1, TRP58TER	KCNJ1		Bartter disease type 2	Pathogenic (Oct 1, 1996)	no assertion criteria provided
Select item 915577.	NM_153766.3(KCNJ1):c.600C>G (p.Ser200Arg) GRCh37: Chr11:128709539 GRCh38: Chr11:128839644	KCNJ1	S200R, S219R, S217R	Bartter disease type 2	Pathogenic (Jun 1, 1998)	no assertion criteria provided
Select item 915478.	NM_153766.3(KCNJ1):c.42dup (p.Gly15fs) GRCh37: Chr11:128710096-128710097 GRCh38: Chr11:128840201-128840202	KCNJ1	G15fs, G32fs, G34fs	Bartter disease type 2	Pathogenic (Oct 1, 1996)	no assertion criteria provided
Select item 915379.	NM_153766.3(KCNJ1):c.180C>G (p.Tyr60Ter) GRCh37: Chr11:128709959 GRCh38: Chr11:128840064	KCNJ1	Y60, Y77, Y79*	Bartter disease type 2	Pathogenic (Oct 1, 1996)	no assertion criteria provided

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Items: 79