ClinVar for MedGen (Select 400041) - ClinVar

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Items: 30

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 14758631.	NM_172201.2(KCNE2):c.144dup (p.Val49fs) GRCh37: Chr21:35742920-35742921 GRCh38: Chr21:34370621-34370622	KCNE2, LOC105372791	V49fs	Long QT syndrome 6, Atrial fibrillation, familial, 4, Long QT syndrome 6	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13901312.	NM_172201.2(KCNE2):c.346G>A (p.Ala116Thr) GRCh37: Chr21:35743123 GRCh38: Chr21:34370824	KCNE2, LOC105372791	A116T	Cardiovascular phenotype, Atrial fibrillation, familial, 4, Long QT syndrome 6, Long QT syndrome 6	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12173003.	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 11073144.	NM_172201.2(KCNE2):c.228A>G (p.Arg76=) GRCh37: Chr21:35743005 GRCh38: Chr21:34370706	KCNE2, LOC105372791		Atrial fibrillation, familial, 4, Long QT syndrome 6, Long QT syndrome 6, Cardiovascular phenotype	Likely benign (Oct 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9560205.	NM_172201.2(KCNE2):c.242A>G (p.Asn81Ser) GRCh37: Chr21:35743019 GRCh38: Chr21:34370720	KCNE2, LOC105372791	N81S	Long QT syndrome 6, Atrial fibrillation, familial, 4, Cardiovascular phenotype, Long QT syndrome 6	Uncertain significance (May 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8993576.	NM_172201.2(KCNE2):c.*234G>A GRCh37: Chr21:35743383 GRCh38: Chr21:34371084	KCNE2, LOC105372791		Atrial fibrillation, familial, 4, Long QT syndrome 6, Long QT syndrome 6, Atrial fibrillation, familial, 4	Uncertain significance (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 8982507.	NM_172201.2(KCNE2):c.*61C>T GRCh37: Chr21:35743210 GRCh38: Chr21:34370911	KCNE2, LOC105372791		Atrial fibrillation, familial, 4, Long QT syndrome 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8982498.	NM_172201.2(KCNE2):c.*11A>C GRCh37: Chr21:35743160 GRCh38: Chr21:34370861	KCNE2, LOC105372791		Long QT syndrome 6, Atrial fibrillation, familial, 4	Conflicting interpretations of pathogenicity (Dec 12, 2021)	criteria provided, conflicting interpretations
Select item 8982489.	NM_172201.2(KCNE2):c.178T>A (p.Phe60Ile) GRCh37: Chr21:35742955 GRCh38: Chr21:34370656	KCNE2, LOC105372791	F60I	Long QT syndrome 6, Atrial fibrillation, familial, 4	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 89520410.	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 65916111.	NM_172201.2(KCNE2):c.2T>C (p.Met1Thr) GRCh37: Chr21:35742779 GRCh38: Chr21:34370480	KCNE2	M1T	Long QT syndrome 6, Atrial fibrillation, familial, 4, Long QT syndrome 6	Uncertain significance (Aug 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 56069712.	NM_172201.2(KCNE2):c.67A>T (p.Met23Leu) GRCh37: Chr21:35742844 GRCh38: Chr21:34370545	KCNE2, LOC105372791	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 53887613.	NM_172201.2(KCNE2):c.204G>A (p.Leu68=) GRCh37: Chr21:35742981 GRCh38: Chr21:34370682	LOC105372791, KCNE2		Atrial fibrillation, familial, 4, Long QT syndrome 6, Cardiovascular phenotype, Long QT syndrome 6	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 33972014.	NM_172201.2(KCNE2):c.*240G>C GRCh37: Chr21:35743389 GRCh38: Chr21:34371090	KCNE2, LOC105372791		Long QT syndrome 6, Congenital long QT syndrome, Atrial fibrillation, familial, 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33971915.	NM_172201.2(KCNE2):c.*62G>A GRCh37: Chr21:35743211 GRCh38: Chr21:34370912	KCNE2, LOC105372791		not provided, Atrial fibrillation, familial, 4, Long QT syndrome 6, Congenital long QT syndrome	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 33971816.	NM_172201.2(KCNE2):c.153G>T (p.Leu51=) GRCh37: Chr21:35742930 GRCh38: Chr21:34370631	KCNE2, LOC105372791		Long QT syndrome 6, Congenital long QT syndrome, Cardiovascular phenotype, Atrial fibrillation, familial, 4	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 33971717.	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 33971618.	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 33971519.	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 33971420.	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 33971321.	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 19079722.	NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?) GRCh37: Chr21:35743146-35743147 GRCh38: Chr21:34370847-34370848	KCNE2, LOC105372791		Cardiovascular phenotype, KCNE2-Related Disorders, Atrial fibrillation, familial, 4, Long QT syndrome 6, not provided, Long QT syndrome 6	Conflicting interpretations of pathogenicity (Jun 7, 2022)	criteria provided, conflicting interpretations
Select item 19079323.	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 19079224.	NM_172201.2(KCNE2):c.354G>A (p.Gly118=) GRCh37: Chr21:35743131 GRCh38: Chr21:34370832	KCNE2, LOC105372791		Cardiovascular phenotype, not specified, not provided, Long QT syndrome 6, Atrial fibrillation, familial, 4	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 6762325.	NM_172201.2(KCNE2):c.80G>A (p.Arg27His) GRCh37: Chr21:35742857 GRCh38: Chr21:34370558	KCNE2, LOC105372791	R27H	Cardiovascular phenotype, Long QT syndrome 6, Atrial fibrillation, familial, 4, Long QT syndrome 6	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 6761426.	NM_172201.2(KCNE2):c.229C>T (p.Arg77Trp) GRCh37: Chr21:35743006 GRCh38: Chr21:34370707	KCNE2, LOC105372791	R77W	Cardiovascular phenotype, Long QT syndrome 6, not specified, not provided, Atrial fibrillation, familial, 4, Long QT syndrome 6	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 6761227.	NM_172201.2(KCNE2):c.193G>C (p.Val65Leu) GRCh37: Chr21:35742970 GRCh38: Chr21:34370671	KCNE2, LOC105372791	V65L	Long QT syndrome 6, Atrial fibrillation, familial, 4, Long QT syndrome 6	Uncertain significance (Nov 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 605528.	NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys) GRCh37: Chr21:35742856 GRCh38: Chr21:34370557	KCNE2, LOC105372791	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 605429.	NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) GRCh37: Chr21:35742947 GRCh38: Chr21:34370648	KCNE2, LOC105372791	I57T	Cardiac arrhythmia, not provided, Long QT syndrome 6, Atrial fibrillation, familial, 4, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Oct 29, 2022)	criteria provided, conflicting interpretations
Select item 605230.	NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu) GRCh37: Chr21:35742802 GRCh38: Chr21:34370503	KCNE2	Q9E	not provided, not specified, Long QT syndrome 6, Atrial fibrillation, familial, 4, Cardiovascular phenotype	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 30