ClinVar for MedGen (Select 394108) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2502185	NM_000219.6(KCNE1):c.-376-8A>T	KCNE1	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 5 +1 more	GUncertain significance
Select item 1589278	NM_000219.6(KCNE1):c.246C>T (p.Ile82=)	KCNE1	Single nucleotide variant (synonymous variant)	Jervell and Lange-Nielsen syndrome 2 +2 more	GLikely benign
Select item 1462525	NM_000219.6(KCNE1):c.236A>G (p.Asn79Ser)	KCNE1 (N79S)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 1427894	NM_000219.6(KCNE1):c.191G>T (p.Ser64Ile)	KCNE1 (S64I)	Single nucleotide variant (missense variant)	Long QT syndrome 5 +3 more	GUncertain significance
Select item 1193618	NM_000219.6(KCNE1):c.199C>A (p.Arg67Ser)	KCNE1 (R67S)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2 +3 more	GUncertain significance
Select item 1060040	NM_000219.6(KCNE1):c.142C>T (p.Leu48Phe)	KCNE1 (L48F)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1056763	NM_000219.6(KCNE1):c.80T>C (p.Met27Thr)	KCNE1 (M27T)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 963591	NM_000219.6(KCNE1):c.120C>T (p.Gly40=)	KCNE1	Single nucleotide variant (synonymous variant)	Jervell and Lange-Nielsen syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 898663	NM_000219.6(KCNE1):c.-531C>T	KCNE1	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 5 +1 more	GLikely benign
Select item 898606	NM_000219.6(KCNE1):c.-198C>T	KCNE1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 898605	NM_000219.6(KCNE1):c.-170C>T	KCNE1	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 5 +1 more	GUncertain significance
Select item 898534	NM_000219.6(KCNE1):c.347A>C (p.Glu116Ala)	KCNE1 (E116A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 898400	NM_000219.6(KCNE1):c.*1539C>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +1 more	GUncertain significance
Select item 898399	NM_000219.6(KCNE1):c.*1542G>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +1 more	GUncertain significance
Select item 898314	NM_000219.6(KCNE1):c.*2123G>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 897503	NM_000219.6(KCNE1):c.-521G>A	KCNE1	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 5 +1 more	GUncertain significance
Select item 897437	NM_000219.6(KCNE1):c.-24A>G	KCNE1	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 5 +1 more	GUncertain significance
Select item 897296	NM_000219.6(KCNE1):c.*960C>T	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +1 more	GUncertain significance
Select item 897147	NM_000219.6(KCNE1):c.*2206G>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +1 more	GUncertain significance
Select item 897146	NM_000219.6(KCNE1):c.*2298C>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +1 more	GUncertain significance
Select item 897027	NM_000219.6(KCNE1):c.-334G>A	KCNE1	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 5 +1 more	GUncertain significance
Select item 896877	NM_000219.6(KCNE1):c.*278A>T	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +1 more	GUncertain significance
Select item 896876	NM_000219.6(KCNE1):c.*366A>C	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +1 more	GUncertain significance
Select item 896808	NM_000219.6(KCNE1):c.*1078G>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +1 more	GUncertain significance
Select item 896751	NM_000219.6(KCNE1):c.*1857G>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +1 more	GUncertain significance
Select item 896696	NM_000219.6(KCNE1):c.*2393C>T	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +1 more	GUncertain significance
Select item 895472	NM_000219.6(KCNE1):c.*375C>T	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +1 more	GUncertain significance
Select item 895411	NM_000219.6(KCNE1):c.*1290G>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +1 more	GUncertain significance
Select item 895258	NM_000219.6(KCNE1):c.*2475A>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +1 more	GUncertain significance
Select item 854638	NM_000219.6(KCNE1):c.179G>A (p.Gly60Asp)	KCNE1 (G60D)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 644369	NM_000219.6(KCNE1):c.199C>G (p.Arg67Gly)	KCNE1 (R67G)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 583062	NM_000219.6(KCNE1):c.334_342dup (p.His112_Ala114dup)	KCNE1	Duplication (inframe_insertion)	Jervell and Lange-Nielsen syndrome 2 +1 more	GUncertain significance
Select item 568509	NM_000219.6(KCNE1):c.208A>C (p.Lys70Gln)	KCNE1 (K70Q)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2 +4 more	GUncertain significance
Select item 547164	NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter)	KCNE1 (W17*)	Single nucleotide variant (nonsense)	Long QT syndrome	GPathogenic
Select item 547163	NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter)	KCNE1 (W17*)	Single nucleotide variant (nonsense)	Jervell and Lange-Nielsen syndrome 2	GPathogenic
Select item 547162	NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter)	KCNE1 (Y46*)	Single nucleotide variant (nonsense)	Jervell and Lange-Nielsen syndrome 2	GPathogenic
Select item 506395	NM_000219.6(KCNE1):c.111C>T (p.Ser37=)	KCNE1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 504745	NM_000219.6(KCNE1):c.-5C>A	KCNE1	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 456874	NM_000219.6(KCNE1):c.111_112inv (p.Ser38Gly)	KCNE1 (S38G)	Inversion (missense variant)	Long QT syndrome 5 +4 more	GBenign/Likely benign
Select item 430060	NM_000219.6(KCNE1):c.12dup (p.Asn5Ter)	KCNE1 (N5*)	Duplication (nonsense)	Jervell and Lange-Nielsen syndrome 2 +4 more	GPathogenic
Select item 339788	NM_000219.6(KCNE1):c.-530G>A	KCNE1	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 5 +2 more	GUncertain significance
Select item 339787	NM_000219.6(KCNE1):c.-522C>T	KCNE1	Single nucleotide variant (5 prime UTR variant)	Congenital long QT syndrome +2 more	GUncertain significance
Select item 339786	NM_000219.6(KCNE1):c.-467A>T	KCNE1	Single nucleotide variant (5 prime UTR variant)	Congenital long QT syndrome +2 more	GUncertain significance
Select item 339785	NM_000219.6(KCNE1):c.-464G>A	KCNE1	Single nucleotide variant (5 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +3 more	GBenign
Select item 339784	NM_000219.6(KCNE1):c.-432G>A	KCNE1	Single nucleotide variant (5 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 339783	NM_000219.6(KCNE1):c.-377+13G>A	KCNE1	Single nucleotide variant (intron variant)	Long QT syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 339782	NM_000219.6(KCNE1):c.-375A>G	KCNE1	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 339781	NM_000219.6(KCNE1):c.-298C>T	KCNE1	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 5 +2 more	GUncertain significance
Select item 339780	NM_000219.6(KCNE1):c.-253A>G	KCNE1	Single nucleotide variant (5 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +3 more	GBenign/Likely benign
Select item 339779	NM_000219.6(KCNE1):c.-252G>A	KCNE1	Single nucleotide variant (5 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +3 more	GBenign
Select item 339778	NM_000219.6(KCNE1):c.-225G>C	KCNE1	Single nucleotide variant (5 prime UTR variant)	Congenital long QT syndrome +2 more	GUncertain significance
Select item 339777	NM_000219.6(KCNE1):c.-101A>T	KCNE1	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 5 +2 more	GUncertain significance
Select item 339776	NM_000219.6(KCNE1):c.-100T>C	KCNE1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 339775	NM_000219.6(KCNE1):c.-82T>G	KCNE1	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 339774	NM_000219.6(KCNE1):c.-57T>C	KCNE1	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 5 +2 more	GUncertain significance
Select item 339773	NM_000219.6(KCNE1):c.-13C>T	KCNE1	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GUncertain significance
Select item 339772	NM_000219.6(KCNE1):c.54G>A (p.Gln18=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 339771	NM_000219.6(KCNE1):c.*30C>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 339769	NM_000219.6(KCNE1):c.*124A>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +3 more	GBenign
Select item 339768	NM_000219.6(KCNE1):c.*132A>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +3 more	GBenign
Select item 339767	NM_000219.6(KCNE1):c.*196C>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 339766	NM_000219.6(KCNE1):c.*268C>T	KCNE1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +3 more	GBenign/Likely benign
Select item 339765	NM_000219.6(KCNE1):c.*373A>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 339764	NM_000219.6(KCNE1):c.*456C>T	KCNE1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +3 more	GBenign
Select item 339763	NM_000219.6(KCNE1):c.*457G>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +4 more	GUncertain significance
Select item 339762	NM_000219.6(KCNE1):c.*490G>C	KCNE1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 339761	NM_000219.6(KCNE1):c.*493C>T	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 339760	NM_000219.6(KCNE1):c.*553A>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 339759	NM_000219.6(KCNE1):c.*578T>C	KCNE1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +3 more	GBenign
Select item 339758	NM_000219.6(KCNE1):c.*817A>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +2 more	GLikely benign
Select item 339757	NM_000219.6(KCNE1):c.*923G>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +2 more	GLikely benign
Select item 339755	NM_000219.6(KCNE1):c.*995G>C	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +2 more	GUncertain significance
Select item 339754	NM_000219.6(KCNE1):c.*1043T>C	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +2 more	GUncertain significance
Select item 339753	NM_000219.6(KCNE1):c.*1068A>C	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +2 more	GBenign
Select item 339752	NM_000219.6(KCNE1):c.*1192A>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +2 more	GUncertain significance
Select item 339751	NM_000219.6(KCNE1):c.*1219A>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome +4 more	GBenign
Select item 339749	NM_000219.6(KCNE1):c.*1322A>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +3 more	GBenign
Select item 339748	NM_000219.6(KCNE1):c.*1338C>T	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 339747	NM_000219.6(KCNE1):c.*1447C>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +2 more	GUncertain significance
Select item 339745	NM_000219.6(KCNE1):c.*1556G>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +2 more	GUncertain significance
Select item 339744	NM_000219.6(KCNE1):c.*1574C>T	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 339743	NM_000219.6(KCNE1):c.*1583A>C	KCNE1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +4 more	GUncertain significance
Select item 339742	NM_000219.6(KCNE1):c.*1666G>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +2 more	GLikely benign
Select item 339741	NM_000219.6(KCNE1):c.*1701A>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +2 more	GUncertain significance
Select item 339740	NM_000219.6(KCNE1):c.*1815A>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +3 more	GBenign/Likely benign
Select item 339739	NM_000219.6(KCNE1):c.*1831C>T	KCNE1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GUncertain significance
Select item 339738	NM_000219.6(KCNE1):c.*1832C>T	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +2 more	GUncertain significance
Select item 339737	NM_000219.6(KCNE1):c.*1838T>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +2 more	GLikely benign
Select item 339736	NM_000219.6(KCNE1):c.*1859G>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GUncertain significance
Select item 339735	NM_000219.6(KCNE1):c.*1928T>C	KCNE1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 5 +2 more	GUncertain significance
Select item 339734	NM_000219.6(KCNE1):c.*2000C>T	KCNE1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GLikely benign
Select item 339733	NM_000219.6(KCNE1):c.*2001G>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 339732	NM_000219.6(KCNE1):c.*2007=	KCNE1	Single nucleotide variant (no sequence alteration)	Jervell and Lange-Nielsen syndrome 2 +3 more	GBenign
Select item 339731	NM_000219.6(KCNE1):c.*2008G>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GUncertain significance
Select item 339730	NM_000219.6(KCNE1):c.*2098T>C	KCNE1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +3 more	GBenign/Likely benign
Select item 339729	NM_000219.6(KCNE1):c.*2103C>T	KCNE1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +3 more	GBenign/Likely benign
Select item 339728	NM_000219.6(KCNE1):c.*2150G>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GLikely benign
Select item 339727	NM_000219.6(KCNE1):c.*2194T>C	KCNE1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GLikely benign
Select item 339726	NM_000219.6(KCNE1):c.*2320G>T	KCNE1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GUncertain significance
Select item 339725	NM_000219.6(KCNE1):c.*2329C>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GUncertain significance

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