ClinVar for MedGen (Select 358092) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25021851.	NM_000219.6(KCNE1):c.-376-8A>T GRCh37: Chr21:35883621 GRCh38: Chr21:34511323	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 17056962.	NM_000219.6(KCNE1):c.106dup (p.Arg36fs) GRCh37: Chr21:35821826-35821827 GRCh38: Chr21:34449528-34449529	KCNE1	R36fs	Long QT syndrome 5	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 15892783.	NM_000219.6(KCNE1):c.246C>T (p.Ile82=) GRCh37: Chr21:35821687 GRCh38: Chr21:34449389	KCNE1		Long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Likely benign (Jun 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14625254.	NM_000219.6(KCNE1):c.236A>G (p.Asn79Ser) GRCh37: Chr21:35821697 GRCh38: Chr21:34449399	KCNE1	N79S	Long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14278945.	NM_000219.6(KCNE1):c.191G>T (p.Ser64Ile) GRCh37: Chr21:35821742 GRCh38: Chr21:34449444	KCNE1	S64I	Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Cardiovascular phenotype, Long QT syndrome	Uncertain significance (Feb 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 12026206.	NM_000219.6(KCNE1):c.31_118del (p.Pro11fs) GRCh37: Chr21:35821815-35821902 GRCh38: Chr21:34449517-34449604	KCNE1	P11fs	Long QT syndrome 5	Likely pathogenic (Jul 16, 2021)	criteria provided, single submitter
Select item 11936187.	NM_000219.6(KCNE1):c.199C>A (p.Arg67Ser) GRCh37: Chr21:35821734 GRCh38: Chr21:34449436	KCNE1	R67S	Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, not provided, Long QT syndrome	Uncertain significance (Mar 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10600408.	NM_000219.6(KCNE1):c.142C>T (p.Leu48Phe) GRCh37: Chr21:35821791 GRCh38: Chr21:34449493	KCNE1	L48F	Cardiovascular phenotype, Long QT syndrome, not provided, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Uncertain significance (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10567639.	NM_000219.6(KCNE1):c.80T>C (p.Met27Thr) GRCh37: Chr21:35821853 GRCh38: Chr21:34449555	KCNE1	M27T	Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96359110.	NM_000219.6(KCNE1):c.120C>T (p.Gly40=) GRCh37: Chr21:35821813 GRCh38: Chr21:34449515	KCNE1		Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Cardiovascular phenotype, Long QT syndrome	Conflicting interpretations of pathogenicity (Nov 4, 2022)	criteria provided, conflicting interpretations
Select item 89866311.	NM_000219.6(KCNE1):c.-531C>T GRCh37: Chr21:35884479 GRCh38: Chr21:34512181	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 89860612.	NM_000219.6(KCNE1):c.-198C>T GRCh37: Chr21:35883435 GRCh38: Chr21:34511137	KCNE1		not provided, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Benign (Apr 28, 2017)	criteria provided, multiple submitters, no conflicts
Select item 89860513.	NM_000219.6(KCNE1):c.-170C>T GRCh37: Chr21:35883407 GRCh38: Chr21:34511109	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89853414.	NM_000219.6(KCNE1):c.347A>C (p.Glu116Ala) GRCh37: Chr21:35821586 GRCh38: Chr21:34449288	KCNE1	E116A	Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Cardiovascular phenotype	Uncertain significance (Jun 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 89840015.	NM_000219.6(KCNE1):c.*1539C>A GRCh37: Chr21:35820004 GRCh38: Chr21:34447706	KCNE1		Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89839916.	NM_000219.6(KCNE1):c.*1542G>A GRCh37: Chr21:35820001 GRCh38: Chr21:34447703	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Uncertain significance (Aug 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89831417.	NM_000219.6(KCNE1):c.*2123G>A GRCh37: Chr21:35819420 GRCh38: Chr21:34447122	KCNE1		not provided, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Benign/Likely benign (May 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89750318.	NM_000219.6(KCNE1):c.-521G>A GRCh37: Chr21:35884469 GRCh38: Chr21:34512171	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89743719.	NM_000219.6(KCNE1):c.-24A>G GRCh37: Chr21:35821956 GRCh38: Chr21:34449658	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89729620.	NM_000219.6(KCNE1):c.*960C>T GRCh37: Chr21:35820583 GRCh38: Chr21:34448285	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Oct 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89714721.	NM_000219.6(KCNE1):c.*2206G>A GRCh37: Chr21:35819337 GRCh38: Chr21:34447039	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89714622.	NM_000219.6(KCNE1):c.*2298C>G GRCh37: Chr21:35819245 GRCh38: Chr21:34446947	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Sep 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89702723.	NM_000219.6(KCNE1):c.-334G>A GRCh37: Chr21:35883571 GRCh38: Chr21:34511273	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Aug 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89687724.	NM_000219.6(KCNE1):c.*278A>T GRCh37: Chr21:35821265 GRCh38: Chr21:34448967	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89687625.	NM_000219.6(KCNE1):c.*366A>C GRCh37: Chr21:35821177 GRCh38: Chr21:34448879	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89680826.	NM_000219.6(KCNE1):c.*1078G>A GRCh37: Chr21:35820465 GRCh38: Chr21:34448167	KCNE1		Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89675127.	NM_000219.6(KCNE1):c.*1857G>A GRCh37: Chr21:35819686 GRCh38: Chr21:34447388	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89669628.	NM_000219.6(KCNE1):c.*2393C>T GRCh37: Chr21:35819150 GRCh38: Chr21:34446852	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89547229.	NM_000219.6(KCNE1):c.*375C>T GRCh37: Chr21:35821168 GRCh38: Chr21:34448870	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89541130.	NM_000219.6(KCNE1):c.*1290G>A GRCh37: Chr21:35820253 GRCh38: Chr21:34447955	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89525831.	NM_000219.6(KCNE1):c.*2475A>G GRCh37: Chr21:35819068 GRCh38: Chr21:34446770	KCNE1		Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 85463832.	NM_000219.6(KCNE1):c.179G>A (p.Gly60Asp) GRCh37: Chr21:35821754 GRCh38: Chr21:34449456	KCNE1	G60D	not provided, Long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Uncertain significance (Dec 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 69224933.	NM_000219.6(KCNE1):c.335A>G (p.His112Arg) GRCh37: Chr21:35821598 GRCh38: Chr21:34449300	KCNE1	H112R	Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 5	Uncertain significance (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64436934.	NM_000219.6(KCNE1):c.199C>G (p.Arg67Gly) GRCh37: Chr21:35821734 GRCh38: Chr21:34449436	KCNE1	R67G	Long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59878135.	NM_000219.6(KCNE1):c.166_180del (p.Phe56_Gly60del) GRCh37: Chr21:35821753-35821767 GRCh38: Chr21:34449455-34449469	KCNE1		Long QT syndrome 5	Likely pathogenic (Sep 6, 2018)	criteria provided, single submitter
Select item 56850936.	NM_000219.6(KCNE1):c.208A>C (p.Lys70Gln) GRCh37: Chr21:35821725 GRCh38: Chr21:34449427	KCNE1	K70Q	Cardiovascular phenotype, Long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Uncertain significance (Apr 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 50639537.	NM_000219.6(KCNE1):c.111C>T (p.Ser37=) GRCh37: Chr21:35821822 GRCh38: Chr21:34449524	KCNE1		not specified, Cardiovascular phenotype, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 50474538.	NM_000219.6(KCNE1):c.-5C>A GRCh37: Chr21:35821937 GRCh38: Chr21:34449639	KCNE1		not provided, Long QT syndrome 5, Cardiovascular phenotype, not specified, Jervell and Lange-Nielsen syndrome 2	Conflicting interpretations of pathogenicity (May 22, 2023)	criteria provided, conflicting interpretations
Select item 45687439.	NM_000219.6(KCNE1):c.111_112inv (p.Ser38Gly) GRCh37: Chr21:35821821-35821822 GRCh38: Chr21:34449523-34449524	KCNE1	S38G	not provided, Long QT syndrome, Cardiovascular phenotype, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Benign/Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43006040.	NM_000219.6(KCNE1):c.12dup (p.Asn5Ter) GRCh37: Chr21:35821920-35821921 GRCh38: Chr21:34449622-34449623	KCNE1	N5*	Cardiovascular phenotype, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, not provided, Long QT syndrome	Pathogenic (Jun 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 33978841.	NM_000219.6(KCNE1):c.-530G>A GRCh37: Chr21:35884478 GRCh38: Chr21:34512180	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33978742.	NM_000219.6(KCNE1):c.-522C>T GRCh37: Chr21:35884470 GRCh38: Chr21:34512172	KCNE1		Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33978643.	NM_000219.6(KCNE1):c.-467A>T GRCh37: Chr21:35884415 GRCh38: Chr21:34512117	KCNE1		Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33978544.	NM_000219.6(KCNE1):c.-464G>A GRCh37: Chr21:35884412 GRCh38: Chr21:34512114	KCNE1		Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33978445.	NM_000219.6(KCNE1):c.-432G>A GRCh37: Chr21:35884380 GRCh38: Chr21:34512082	KCNE1		Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 33978346.	NM_000219.6(KCNE1):c.-377+13G>A GRCh37: Chr21:35884312 GRCh38: Chr21:34512014	KCNE1		Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 33978247.	NM_000219.6(KCNE1):c.-375A>G GRCh37: Chr21:35883612 GRCh38: Chr21:34511314	KCNE1		Congenital long QT syndrome, not provided, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Benign/Likely benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 33978148.	NM_000219.6(KCNE1):c.-298C>T GRCh37: Chr21:35883535 GRCh38: Chr21:34511237	KCNE1		Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33978049.	NM_000219.6(KCNE1):c.-253A>G GRCh37: Chr21:35883490 GRCh38: Chr21:34511192	KCNE1		Congenital long QT syndrome, not provided, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Benign/Likely benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 33977950.	NM_000219.6(KCNE1):c.-252G>A GRCh37: Chr21:35883489 GRCh38: Chr21:34511191	KCNE1		Congenital long QT syndrome, not provided, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 33977851.	NM_000219.6(KCNE1):c.-225G>C GRCh37: Chr21:35883462 GRCh38: Chr21:34511164	KCNE1		Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33977752.	NM_000219.6(KCNE1):c.-101A>T GRCh37: Chr21:35831002 GRCh38: Chr21:34458704	KCNE1		Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33977653.	NM_000219.6(KCNE1):c.-100T>C GRCh37: Chr21:35831001 GRCh38: Chr21:34458703	KCNE1		not specified, Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2	Benign/Likely benign (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 33977554.	NM_000219.6(KCNE1):c.-82T>G GRCh37: Chr21:35830983 GRCh38: Chr21:34458685	KCNE1		Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 33977455.	NM_000219.6(KCNE1):c.-57T>C GRCh37: Chr21:35830958 GRCh38: Chr21:34458660	KCNE1		Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33977356.	NM_000219.6(KCNE1):c.-13C>T GRCh37: Chr21:35821945 GRCh38: Chr21:34449647	KCNE1		not specified, Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 33977257.	NM_000219.6(KCNE1):c.54G>A (p.Gln18=) GRCh37: Chr21:35821879 GRCh38: Chr21:34449581	KCNE1		Cardiovascular phenotype, Long QT syndrome, Congenital long QT syndrome, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2	Conflicting interpretations of pathogenicity (Jun 27, 2022)	criteria provided, conflicting interpretations
Select item 33977158.	NM_000219.6(KCNE1):c.*30C>G GRCh37: Chr21:35821513 GRCh38: Chr21:34449215	KCNE1		Long QT syndrome 5, Congenital long QT syndrome, not provided, Jervell and Lange-Nielsen syndrome 2	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 33976959.	NM_000219.6(KCNE1):c.*124A>G GRCh37: Chr21:35821419 GRCh38: Chr21:34449121	KCNE1		Long QT syndrome 5, Congenital long QT syndrome, not provided, Jervell and Lange-Nielsen syndrome 2	Benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 33976860.	NM_000219.6(KCNE1):c.*132A>G GRCh37: Chr21:35821411 GRCh38: Chr21:34449113	KCNE1		Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Congenital long QT syndrome, not provided	Benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 33976761.	NM_000219.6(KCNE1):c.*196C>G GRCh37: Chr21:35821347 GRCh38: Chr21:34449049	KCNE1		Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Congenital long QT syndrome, not provided	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 33976662.	NM_000219.6(KCNE1):c.*268C>T GRCh37: Chr21:35821275 GRCh38: Chr21:34448977	KCNE1		Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome, Long QT syndrome 5, not provided	Benign/Likely benign (Jul 6, 2018)	criteria provided, multiple submitters, no conflicts
Select item 33976563.	NM_000219.6(KCNE1):c.*373A>G GRCh37: Chr21:35821170 GRCh38: Chr21:34448872	KCNE1		Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome, Long QT syndrome 5	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 33976464.	NM_000219.6(KCNE1):c.*456C>T GRCh37: Chr21:35821087 GRCh38: Chr21:34448789	KCNE1		Congenital long QT syndrome, Long QT syndrome 5, not provided, Jervell and Lange-Nielsen syndrome 2	Benign (Jun 13, 2019)	criteria provided, multiple submitters, no conflicts
Select item 33976365.	NM_000219.6(KCNE1):c.*457G>A GRCh37: Chr21:35821086 GRCh38: Chr21:34448788	KCNE1		Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Long QT syndrome, Jervell and Lange-Nielsen syndrome, Congenital long QT syndrome	Uncertain significance (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33976266.	NM_000219.6(KCNE1):c.*490G>C GRCh37: Chr21:35821053 GRCh38: Chr21:34448755	KCNE1		Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome, Long QT syndrome 5, not provided	Benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33976167.	NM_000219.6(KCNE1):c.*493C>T GRCh37: Chr21:35821050 GRCh38: Chr21:34448752	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 33976068.	NM_000219.6(KCNE1):c.*553A>G GRCh37: Chr21:35820990 GRCh38: Chr21:34448692	KCNE1		Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Congenital long QT syndrome	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 33975969.	NM_000219.6(KCNE1):c.*578T>C GRCh37: Chr21:35820965 GRCh38: Chr21:34448667	KCNE1		Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Congenital long QT syndrome, not provided	Benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33975870.	NM_000219.6(KCNE1):c.*817A>G GRCh37: Chr21:35820726 GRCh38: Chr21:34448428	KCNE1		Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome, Long QT syndrome 5	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33975771.	NM_000219.6(KCNE1):c.*923G>A GRCh37: Chr21:35820620 GRCh38: Chr21:34448322	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33975572.	NM_000219.6(KCNE1):c.*995G>C GRCh37: Chr21:35820548 GRCh38: Chr21:34448250	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33975473.	NM_000219.6(KCNE1):c.*1043T>C GRCh37: Chr21:35820500 GRCh38: Chr21:34448202	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33975374.	NM_000219.6(KCNE1):c.*1068A>C GRCh37: Chr21:35820475 GRCh38: Chr21:34448177	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33975275.	NM_000219.6(KCNE1):c.*1192A>G GRCh37: Chr21:35820351 GRCh38: Chr21:34448053	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33975176.	NM_000219.6(KCNE1):c.*1219A>G GRCh37: Chr21:35820324 GRCh38: Chr21:34448026	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome, Congenital long QT syndrome, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33974977.	NM_000219.6(KCNE1):c.*1322A>G GRCh37: Chr21:35820221 GRCh38: Chr21:34447923	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome, not provided	Benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33974878.	NM_000219.6(KCNE1):c.*1338C>T GRCh37: Chr21:35820205 GRCh38: Chr21:34447907	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 33974779.	NM_000219.6(KCNE1):c.*1447C>G GRCh37: Chr21:35820096 GRCh38: Chr21:34447798	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Sep 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33974580.	NM_000219.6(KCNE1):c.*1556G>A GRCh37: Chr21:35819987 GRCh38: Chr21:34447689	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33974481.	NM_000219.6(KCNE1):c.*1574C>T GRCh37: Chr21:35819969 GRCh38: Chr21:34447671	KCNE1		Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 33974382.	NM_000219.6(KCNE1):c.*1583A>C GRCh37: Chr21:35819960 GRCh38: Chr21:34447662	KCNE1		Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Long QT syndrome, Jervell and Lange-Nielsen syndrome, Congenital long QT syndrome	Uncertain significance (Sep 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33974283.	NM_000219.6(KCNE1):c.*1666G>A GRCh37: Chr21:35819877 GRCh38: Chr21:34447579	KCNE1		Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33974184.	NM_000219.6(KCNE1):c.*1701A>G GRCh37: Chr21:35819842 GRCh38: Chr21:34447544	KCNE1		Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Uncertain significance (Sep 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33974085.	NM_000219.6(KCNE1):c.*1815A>G GRCh37: Chr21:35819728 GRCh38: Chr21:34447430	KCNE1		Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, not provided, Long QT syndrome 5	Benign/Likely benign (May 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33973986.	NM_000219.6(KCNE1):c.*1831C>T GRCh37: Chr21:35819712 GRCh38: Chr21:34447414	KCNE1		Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33973887.	NM_000219.6(KCNE1):c.*1832C>T GRCh37: Chr21:35819711 GRCh38: Chr21:34447413	KCNE1		Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33973788.	NM_000219.6(KCNE1):c.*1838T>A GRCh37: Chr21:35819705 GRCh38: Chr21:34447407	KCNE1		Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33973689.	NM_000219.6(KCNE1):c.*1859G>A GRCh37: Chr21:35819684 GRCh38: Chr21:34447386	KCNE1		Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Uncertain significance (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33973590.	NM_000219.6(KCNE1):c.*1928T>C GRCh37: Chr21:35819615 GRCh38: Chr21:34447317	KCNE1		Long QT syndrome 5, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33973491.	NM_000219.6(KCNE1):c.*2000C>T GRCh37: Chr21:35819543 GRCh38: Chr21:34447245	KCNE1		Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33973392.	NM_000219.6(KCNE1):c.*2001G>A GRCh37: Chr21:35819542 GRCh38: Chr21:34447244	KCNE1		Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 33973293.	NM_000219.6(KCNE1):c.*2007= GRCh37: Chr21:35819536 GRCh38: Chr21:34447238	KCNE1		Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, not provided, Long QT syndrome 5	Benign (May 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33973194.	NM_000219.6(KCNE1):c.*2008G>A GRCh37: Chr21:35819535 GRCh38: Chr21:34447237	KCNE1		Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33973095.	NM_000219.6(KCNE1):c.*2098T>C GRCh37: Chr21:35819445 GRCh38: Chr21:34447147	KCNE1		Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, not provided, Long QT syndrome 5	Benign/Likely benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33972996.	NM_000219.6(KCNE1):c.*2103C>T GRCh37: Chr21:35819440 GRCh38: Chr21:34447142	KCNE1		Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, not provided, Long QT syndrome 5	Benign/Likely benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33972897.	NM_000219.6(KCNE1):c.*2150G>A GRCh37: Chr21:35819393 GRCh38: Chr21:34447095	KCNE1		Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33972798.	NM_000219.6(KCNE1):c.*2194T>C GRCh37: Chr21:35819349 GRCh38: Chr21:34447051	KCNE1		Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33972699.	NM_000219.6(KCNE1):c.*2320G>T GRCh37: Chr21:35819223 GRCh38: Chr21:34446925	KCNE1		Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Uncertain significance (Oct 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 339725100.	NM_000219.6(KCNE1):c.*2329C>A GRCh37: Chr21:35819214 GRCh38: Chr21:34446916	KCNE1		Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter

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