ClinVar for MedGen (Select 462303) - ClinVar

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Items: 92

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 21884791.	NM_172201.2(KCNE2):c.354G>C (p.Gly118=) GRCh37: Chr21:35743131 GRCh38: Chr21:34370832	KCNE2		Long QT syndrome 6	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 21630022.	NM_172201.2(KCNE2):c.301T>C (p.Leu101=) GRCh37: Chr21:35743078 GRCh38: Chr21:34370779	KCNE2		Long QT syndrome 6	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 21473753.	NM_172201.2(KCNE2):c.119A>C (p.Lys40Thr) GRCh37: Chr21:35742896 GRCh38: Chr21:34370597	KCNE2	K40T	Long QT syndrome 6	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 21278894.	NM_172201.2(KCNE2):c.31C>G (p.Leu11Val) GRCh37: Chr21:35742808 GRCh38: Chr21:34370509	KCNE2	L11V	Long QT syndrome 6	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 20820915.	NM_172201.2(KCNE2):c.116C>G (p.Ala39Gly) GRCh37: Chr21:35742893 GRCh38: Chr21:34370594	KCNE2	A39G	Long QT syndrome 6	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 20382566.	NM_172201.2(KCNE2):c.163_165dup (p.Val55_Met56insVal) GRCh37: Chr21:35742937-35742938 GRCh38: Chr21:34370638-34370639	KCNE2		Long QT syndrome 6	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 20114077.	NM_172201.2(KCNE2):c.243T>A (p.Asn81Lys) GRCh37: Chr21:35743020 GRCh38: Chr21:34370721	KCNE2	N81K	Long QT syndrome 6	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 19939568.	NM_172201.2(KCNE2):c.330C>A (p.Ile110=) GRCh37: Chr21:35743107 GRCh38: Chr21:34370808	KCNE2		Long QT syndrome 6	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 17984839.	NM_172201.2(KCNE2):c.298A>C (p.Ile100Leu) GRCh37: Chr21:35743075 GRCh38: Chr21:34370776	KCNE2	I100L	Cardiovascular phenotype, Long QT syndrome 6	Uncertain significance (Nov 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179026210.	NM_172201.2(KCNE2):c.236A>G (p.His79Arg) GRCh37: Chr21:35743013 GRCh38: Chr21:34370714	KCNE2	H79R	Cardiovascular phenotype, Long QT syndrome 6	Uncertain significance (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178340411.	NM_172201.2(KCNE2):c.195G>T (p.Val65=) GRCh37: Chr21:35742972 GRCh38: Chr21:34370673	KCNE2		Long QT syndrome 6, Cardiovascular phenotype	Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172122612.	NM_172201.2(KCNE2):c.86A>T (p.Asn29Ile) GRCh37: Chr21:35742863 GRCh38: Chr21:34370564	KCNE2	N29I	Long QT syndrome 6	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 168462013.	NM_172201.2(KCNE2):c.247C>G (p.Pro83Ala) GRCh37: Chr21:35743024 GRCh38: Chr21:34370725	KCNE2	P83A	Long QT syndrome 6	Uncertain significance (Nov 5, 2021)	criteria provided, single submitter
Select item 164183614.	NM_172201.2(KCNE2):c.369C>T (p.Pro123=) GRCh37: Chr21:35743146 GRCh38: Chr21:34370847	KCNE2		Long QT syndrome 6	Likely benign (May 11, 2021)	criteria provided, single submitter
Select item 160718515.	NM_172201.2(KCNE2):c.207G>A (p.Val69=) GRCh37: Chr21:35742984 GRCh38: Chr21:34370685	KCNE2		Long QT syndrome 6	Likely benign (Aug 20, 2021)	criteria provided, single submitter
Select item 155690316.	NM_172201.2(KCNE2):c.42C>A (p.Val14=) GRCh37: Chr21:35742819 GRCh38: Chr21:34370520	KCNE2		Long QT syndrome 6	Likely benign (Nov 14, 2021)	criteria provided, single submitter
Select item 148501517.	NM_172201.2(KCNE2):c.89C>T (p.Thr30Ile) GRCh37: Chr21:35742866 GRCh38: Chr21:34370567	KCNE2	T30I	Long QT syndrome 6	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 147586318.	NM_172201.2(KCNE2):c.144dup (p.Val49fs) GRCh37: Chr21:35742920-35742921 GRCh38: Chr21:34370621-34370622	KCNE2	V49fs	Atrial fibrillation, familial, 4, Long QT syndrome 6, Long QT syndrome 6	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147061019.	NM_172201.2(KCNE2):c.250T>C (p.Tyr84His) GRCh37: Chr21:35743027 GRCh38: Chr21:34370728	KCNE2	Y84H	Long QT syndrome 6	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 146998920.	NM_172201.2(KCNE2):c.238T>C (p.Ser80Pro) GRCh37: Chr21:35743015 GRCh38: Chr21:34370716	KCNE2	S80P	Long QT syndrome 6	Uncertain significance (Oct 11, 2021)	criteria provided, single submitter
Select item 142002921.	NC_000021.8:g.(?_35742778)_(35821932_?)dup GRCh37: Chr21:35742778-35821932	KCNE1, KCNE2, SMIM11		Long QT syndrome, Long QT syndrome 6	Uncertain significance (Nov 3, 2022)	criteria provided, single submitter
Select item 139013122.	NM_172201.2(KCNE2):c.346G>A (p.Ala116Thr) GRCh37: Chr21:35743123 GRCh38: Chr21:34370824	KCNE2	A116T	Cardiovascular phenotype, Long QT syndrome 6, Atrial fibrillation, familial, 4, Long QT syndrome 6	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135559723.	NM_172201.2(KCNE2):c.345_346dup (p.Ala116fs) GRCh37: Chr21:35743120-35743121 GRCh38: Chr21:34370821-34370822	KCNE2	A116fs	Long QT syndrome 6	Uncertain significance (Dec 11, 2020)	criteria provided, single submitter
Select item 121730024.	NM_172201.2(KCNE2):c.13T>C (p.Ser5Pro) GRCh37: Chr21:35742790 GRCh38: Chr21:34370491	KCNE2	S5P	Long QT syndrome 6, Atrial fibrillation, familial, 4, not specified, Long QT syndrome 6	Uncertain significance (Oct 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117286525.	NM_172201.2(KCNE2):c.79C>A (p.Arg27Ser) GRCh37: Chr21:35742856 GRCh38: Chr21:34370557	KCNE2	R27S	not specified, Long QT syndrome 6	Uncertain significance (Mar 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 114037126.	NM_172201.2(KCNE2):c.246C>T (p.Asp82=) GRCh37: Chr21:35743023 GRCh38: Chr21:34370724	KCNE2		Long QT syndrome 6	Likely benign (May 8, 2019)	criteria provided, single submitter
Select item 110731427.	NM_172201.2(KCNE2):c.228A>G (p.Arg76=) GRCh37: Chr21:35743005 GRCh38: Chr21:34370706	KCNE2		Long QT syndrome 6, Cardiovascular phenotype, Atrial fibrillation, familial, 4, Long QT syndrome 6	Likely benign (Oct 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 110064828.	NM_172201.2(KCNE2):c.87C>T (p.Asn29=) GRCh37: Chr21:35742864 GRCh38: Chr21:34370565	KCNE2		Cardiovascular phenotype, Long QT syndrome 6	Likely benign (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102011629.	NM_172201.2(KCNE2):c.293G>A (p.Ser98Asn) GRCh37: Chr21:35743070 GRCh38: Chr21:34370771	KCNE2	S98N	Long QT syndrome 6	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 101774130.	NC_000021.8:g.(?_35742768)_(35743160_?)del GRCh37: Chr21:35742768-35743160	KCNE2		Long QT syndrome 6	Uncertain significance (Sep 3, 2020)	criteria provided, single submitter
Select item 101486231.	NM_172201.2(KCNE2):c.46C>T (p.Arg16Ter) GRCh37: Chr21:35742823 GRCh38: Chr21:34370524	KCNE2	R16*	Cardiovascular phenotype, not provided, Long QT syndrome 6	Uncertain significance (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101005032.	NM_172201.2(KCNE2):c.367C>T (p.Pro123Ser) GRCh37: Chr21:35743144 GRCh38: Chr21:34370845	KCNE2	P123S	Long QT syndrome 6	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 100883233.	NM_172201.2(KCNE2):c.365C>T (p.Ser122Phe) GRCh37: Chr21:35743142 GRCh38: Chr21:34370843	KCNE2	S122F	Long QT syndrome 6	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 100530034.	NM_172201.2(KCNE2):c.221C>A (p.Ser74Tyr) GRCh37: Chr21:35742998 GRCh38: Chr21:34370699	KCNE2	S74Y	Long QT syndrome 6	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 100309035.	NM_172201.2(KCNE2):c.344G>T (p.Gly115Val) GRCh37: Chr21:35743121 GRCh38: Chr21:34370822	KCNE2	G115V	Long QT syndrome 6	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 95602036.	NM_172201.2(KCNE2):c.242A>G (p.Asn81Ser) GRCh37: Chr21:35743019 GRCh38: Chr21:34370720	KCNE2	N81S	Cardiovascular phenotype, Long QT syndrome 6, Atrial fibrillation, familial, 4, Long QT syndrome 6	Uncertain significance (May 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95564637.	NM_172201.2(KCNE2):c.372A>G (p.Ter124Trp) GRCh37: Chr21:35743149 GRCh38: Chr21:34370850	KCNE2		Cardiovascular phenotype, Long QT syndrome 6	Uncertain significance (Mar 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93894738.	NM_172201.2(KCNE2):c.160A>G (p.Met54Val) GRCh37: Chr21:35742937 GRCh38: Chr21:34370638	KCNE2	M54V	Long QT syndrome 6	Uncertain significance (Jun 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89935739.	NM_172201.2(KCNE2):c.*234G>A GRCh37: Chr21:35743383 GRCh38: Chr21:34371084	KCNE2		Long QT syndrome 6, Atrial fibrillation, familial, 4, Atrial fibrillation, familial, 4, Long QT syndrome 6	Uncertain significance (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89825040.	NM_172201.2(KCNE2):c.*61C>T GRCh37: Chr21:35743210 GRCh38: Chr21:34370911	KCNE2		Long QT syndrome 6, Atrial fibrillation, familial, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89824941.	NM_172201.2(KCNE2):c.*11A>C GRCh37: Chr21:35743160 GRCh38: Chr21:34370861	KCNE2		Atrial fibrillation, familial, 4, Long QT syndrome 6	Conflicting interpretations of pathogenicity (Dec 12, 2021)	criteria provided, conflicting interpretations
Select item 89824842.	NM_172201.2(KCNE2):c.178T>A (p.Phe60Ile) GRCh37: Chr21:35742955 GRCh38: Chr21:34370656	KCNE2	F60I	Atrial fibrillation, familial, 4, Long QT syndrome 6	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 89520443.	NM_172201.2(KCNE2):c.17A>G (p.Asn6Ser) GRCh37: Chr21:35742794 GRCh38: Chr21:34370495	KCNE2	N6S	Cardiovascular phenotype, Long QT syndrome 6, Atrial fibrillation, familial, 4, Long QT syndrome 6, Atrial fibrillation, familial, 4	Uncertain significance (Jul 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 84691144.	NM_172201.2(KCNE2):c.171T>G (p.Ile57Met) GRCh37: Chr21:35742948 GRCh38: Chr21:34370649	KCNE2	I57M	Long QT syndrome 6	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 70514545.	NM_172201.2(KCNE2):c.75T>C (p.Asn25=) GRCh37: Chr21:35742852 GRCh38: Chr21:34370553	KCNE2		Long QT syndrome 6, Cardiovascular phenotype	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70130746.	NM_172201.2(KCNE2):c.318G>A (p.Ser106=) GRCh37: Chr21:35743095 GRCh38: Chr21:34370796	KCNE2		Cardiovascular phenotype, Long QT syndrome 6	Likely benign (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 70096847.	NM_172201.2(KCNE2):c.348G>A (p.Ala116=) GRCh37: Chr21:35743125 GRCh38: Chr21:34370826	KCNE2		Long QT syndrome 6	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 69871848.	NM_172201.2(KCNE2):c.351T>G (p.Ala117=) GRCh37: Chr21:35743128 GRCh38: Chr21:34370829	KCNE2		Long QT syndrome 6	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 69768849.	NM_172201.2(KCNE2):c.309A>G (p.Leu103=) GRCh37: Chr21:35743086 GRCh38: Chr21:34370787	KCNE2		Long QT syndrome 6	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 69225450.	NM_172201.2(KCNE2):c.294C>G (p.Ser98Arg) GRCh37: Chr21:35743071 GRCh38: Chr21:34370772	KCNE2	S98R	Long QT syndrome 6	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67116251.	NM_172201.2(KCNE2):c.30G>A (p.Thr10=) GRCh37: Chr21:35742807 GRCh38: Chr21:34370508	KCNE2		Cardiovascular phenotype, not provided, Long QT syndrome 6	Likely benign (Jan 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66621852.	NC_000021.8:g.(?_35736455)_(35821942_?)dup GRCh37: Chr21:35736455-35821942	KCNE1, KCNE2, SMIM11		Long QT syndrome, Long QT syndrome 6	Uncertain significance (Oct 29, 2020)	criteria provided, single submitter
Select item 65916153.	NM_172201.2(KCNE2):c.2T>C (p.Met1Thr) GRCh37: Chr21:35742779 GRCh38: Chr21:34370480	KCNE2	M1T	Long QT syndrome 6, Long QT syndrome 6, Atrial fibrillation, familial, 4	Uncertain significance (Aug 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 58441354.	NC_000021.8:g.(?_35742772)_(36421202_?)del GRCh37: Chr21:35742772-36421202	CLIC6, KCNE2, KCNE1, RCAN1, RUNX1, SMIM11		Long QT syndrome 6	Uncertain significance (Apr 25, 2018)	criteria provided, single submitter
Select item 57739955.	NM_172201.2(KCNE2):c.122T>C (p.Val41Ala) GRCh37: Chr21:35742899 GRCh38: Chr21:34370600	KCNE2	V41A	Long QT syndrome 6	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 56069756.	NM_172201.2(KCNE2):c.67A>T (p.Met23Leu) GRCh37: Chr21:35742844 GRCh38: Chr21:34370545	KCNE2	M23L	Cardiovascular phenotype, Long QT syndrome 6, Atrial fibrillation, familial, 4, Long QT syndrome 6	Uncertain significance (Oct 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 53887657.	NM_172201.2(KCNE2):c.204G>A (p.Leu68=) GRCh37: Chr21:35742981 GRCh38: Chr21:34370682	KCNE2		Long QT syndrome 6, Cardiovascular phenotype, Atrial fibrillation, familial, 4, Long QT syndrome 6	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 51954258.	NM_172201.2(KCNE2):c.252C>T (p.Tyr84=) GRCh37: Chr21:35743029 GRCh38: Chr21:34370730	KCNE2		Cardiovascular phenotype, Long QT syndrome 6, not provided	Benign/Likely benign (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51925359.	NM_172201.2(KCNE2):c.39C>T (p.Asp13=) GRCh37: Chr21:35742816 GRCh38: Chr21:34370517	KCNE2		Long QT syndrome 6, Cardiovascular phenotype	Likely benign (Aug 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 51411760.	NM_172201.2(KCNE2):c.60T>C (p.Ile20=) GRCh37: Chr21:35742837 GRCh38: Chr21:34370538	KCNE2		not provided, Long QT syndrome 6	Likely benign (Jan 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 47150061.	NM_172201.2(KCNE2):c.339C>T (p.Asn113=) GRCh37: Chr21:35743116 GRCh38: Chr21:34370817	KCNE2		Long QT syndrome 6, Cardiovascular phenotype	Likely benign (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47149962.	NM_172201.2(KCNE2):c.190A>G (p.Ile64Val) GRCh37: Chr21:35742967 GRCh38: Chr21:34370668	KCNE2	I64V	Long QT syndrome 6, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 37922663.	NM_172201.2(KCNE2):c.317C>T (p.Ser106Leu) GRCh37: Chr21:35743094 GRCh38: Chr21:34370795	KCNE2	S106L	Long QT syndrome 6, not provided, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Jun 13, 2022)	criteria provided, conflicting interpretations
Select item 37799964.	NM_172201.2(KCNE2):c.222C>T (p.Ser74=) GRCh37: Chr21:35742999 GRCh38: Chr21:34370700	KCNE2		Cardiovascular phenotype, not provided, Long QT syndrome 6	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33972065.	NM_172201.2(KCNE2):c.*240G>C GRCh37: Chr21:35743389 GRCh38: Chr21:34371090	KCNE2		Congenital long QT syndrome, Long QT syndrome 6, Atrial fibrillation, familial, 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33971966.	NM_172201.2(KCNE2):c.*62G>A GRCh37: Chr21:35743211 GRCh38: Chr21:34370912	KCNE2		Congenital long QT syndrome, Long QT syndrome 6, Atrial fibrillation, familial, 4, not provided	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 33971867.	NM_172201.2(KCNE2):c.153G>T (p.Leu51=) GRCh37: Chr21:35742930 GRCh38: Chr21:34370631	KCNE2		Cardiovascular phenotype, Congenital long QT syndrome, Atrial fibrillation, familial, 4, Long QT syndrome 6	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 33971768.	NM_172201.2(KCNE2):c.-52G>A GRCh37: Chr21:35736411 GRCh38: Chr21:34364112	KCNE2		Congenital long QT syndrome, Atrial fibrillation, familial, 4, Long QT syndrome 6, not provided	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 33971669.	NM_172201.2(KCNE2):c.-79G>A GRCh37: Chr21:35736384 GRCh38: Chr21:34364085	KCNE2		not provided, Congenital long QT syndrome, Atrial fibrillation, familial, 4, Long QT syndrome 6	Benign/Likely benign (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 33971570.	NM_172201.2(KCNE2):c.-80C>T GRCh37: Chr21:35736383 GRCh38: Chr21:34364084	KCNE2		Congenital long QT syndrome, Atrial fibrillation, familial, 4, Long QT syndrome 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33971471.	NM_172201.2(KCNE2):c.-85G>A GRCh37: Chr21:35736378 GRCh38: Chr21:34364079	KCNE2		Congenital long QT syndrome, Long QT syndrome 6, Atrial fibrillation, familial, 4, not provided	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 33971372.	NM_172201.2(KCNE2):c.-121C>T GRCh37: Chr21:35736342 GRCh38: Chr21:34364043	KCNE2		Atrial fibrillation, familial, 4, Long QT syndrome 6, Congenital long QT syndrome, Long QT syndrome, Familial atrial fibrillation	Uncertain significance (Oct 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 19146773.	NM_172201.2(KCNE2):c.357C>A (p.Phe119Leu) GRCh37: Chr21:35743134 GRCh38: Chr21:34370835	KCNE2	F119L	Cardiovascular phenotype, not provided, Long QT syndrome 6	Uncertain significance (Feb 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 19116474.	NM_172201.2(KCNE2):c.209G>A (p.Ser70Asn) GRCh37: Chr21:35742986 GRCh38: Chr21:34370687	KCNE2	S70N	not provided, Long QT syndrome 6	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19079775.	NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?) GRCh37: Chr21:35743146-35743147 GRCh38: Chr21:34370847-34370848	KCNE2		Cardiovascular phenotype, not provided, Long QT syndrome 6, KCNE2-Related Disorders, Atrial fibrillation, familial, 4, Long QT syndrome 6	Conflicting interpretations of pathogenicity (Jun 7, 2022)	criteria provided, conflicting interpretations
Select item 19079376.	NM_172201.2(KCNE2):c.-13+5G>A GRCh37: Chr21:35736455 GRCh38: Chr21:34364156	KCNE2		Congenital long QT syndrome, Atrial fibrillation, familial, 4, Long QT syndrome 6, not provided, Atrial fibrillation, familial, 4, Long QT syndrome 6	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19079277.	NM_172201.2(KCNE2):c.354G>A (p.Gly118=) GRCh37: Chr21:35743131 GRCh38: Chr21:34370832	KCNE2		Cardiovascular phenotype, not specified, not provided, Atrial fibrillation, familial, 4, Long QT syndrome 6	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 13797878.	NM_172201.2(KCNE2):c.261C>T (p.Tyr87=) GRCh37: Chr21:35743038 GRCh38: Chr21:34370739	KCNE2		Cardiovascular phenotype, not specified, Long QT syndrome 6	Benign/Likely benign (Mar 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 6762379.	NM_172201.2(KCNE2):c.80G>A (p.Arg27His) GRCh37: Chr21:35742857 GRCh38: Chr21:34370558	KCNE2	R27H	Long QT syndrome 6, Cardiovascular phenotype, Atrial fibrillation, familial, 4, Long QT syndrome 6	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 6762180.	NM_172201.2(KCNE2):c.40G>A (p.Val14Ile) GRCh37: Chr21:35742817 GRCh38: Chr21:34370518	KCNE2	V14I	Cardiovascular phenotype, not provided, Long QT syndrome 6	Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6762081.	NM_172201.2(KCNE2):c.347C>T (p.Ala116Val) GRCh37: Chr21:35743124 GRCh38: Chr21:34370825	KCNE2	A116V	not provided, Long QT syndrome 6	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 6761982.	NM_172201.2(KCNE2):c.29C>T (p.Thr10Met) GRCh37: Chr21:35742806 GRCh38: Chr21:34370507	KCNE2	T10M	Hypertrophic cardiomyopathy, Long QT syndrome, not specified, not provided, Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 6	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 6761883.	NM_172201.2(KCNE2):c.281A>G (p.Glu94Gly) GRCh37: Chr21:35743058 GRCh38: Chr21:34370759	KCNE2	E94G	Long QT syndrome 6, Cardiovascular phenotype	Uncertain significance (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6761584.	NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala) GRCh37: Chr21:35742799 GRCh38: Chr21:34370500	KCNE2	T8A	Long QT syndrome, drug-associated, Cardiovascular phenotype, not specified, not provided, Long QT syndrome, Long QT syndrome 6	Conflicting interpretations of pathogenicity (Nov 4, 2022)	criteria provided, conflicting interpretations
Select item 6761485.	NM_172201.2(KCNE2):c.229C>T (p.Arg77Trp) GRCh37: Chr21:35743006 GRCh38: Chr21:34370707	KCNE2	R77W	not specified, Long QT syndrome 6, Cardiovascular phenotype, Atrial fibrillation, familial, 4, Long QT syndrome 6, not provided	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 6761386.	NM_172201.2(KCNE2):c.197C>T (p.Ala66Val) GRCh37: Chr21:35742974 GRCh38: Chr21:34370675	KCNE2	A66V	not provided, Long QT syndrome 6	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6761287.	NM_172201.2(KCNE2):c.193G>C (p.Val65Leu) GRCh37: Chr21:35742970 GRCh38: Chr21:34370671	KCNE2	V65L	Atrial fibrillation, familial, 4, Long QT syndrome 6, Long QT syndrome 6	Uncertain significance (Nov 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 6761188.	NM_172201.2(KCNE2):c.193G>A (p.Val65Met) GRCh37: Chr21:35742970 GRCh38: Chr21:34370671	KCNE2	V65M	Long QT syndrome 6	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 605589.	NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys) GRCh37: Chr21:35742856 GRCh38: Chr21:34370557	KCNE2	R27C	Long QT syndrome 6, Atrial fibrillation, familial, 4, not provided, Atrial fibrillation, familial, 4, Long QT syndrome 6	Conflicting interpretations of pathogenicity (Aug 21, 2022)	criteria provided, conflicting interpretations
Select item 605490.	NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) GRCh37: Chr21:35742947 GRCh38: Chr21:34370648	KCNE2	I57T	Cardiac arrhythmia, Cardiovascular phenotype, not provided, Long QT syndrome 6, Atrial fibrillation, familial, 4	Conflicting interpretations of pathogenicity (Oct 29, 2022)	criteria provided, conflicting interpretations
Select item 605391.	NM_172201.2(KCNE2):c.161T>C (p.Met54Thr) GRCh37: Chr21:35742938 GRCh38: Chr21:34370639	KCNE2	M54T	KCNE2-Related Disorders, Cardiovascular phenotype, not provided, Long QT syndrome 6	Conflicting interpretations of pathogenicity; risk factor (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 605292.	NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu) GRCh37: Chr21:35742802 GRCh38: Chr21:34370503	KCNE2	Q9E	Cardiovascular phenotype, not provided, not specified, Long QT syndrome 6, Atrial fibrillation, familial, 4	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 92