KCNE1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 339721	NM_000219.6(KCNE1):c.*2529C>T	KCNE1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 339722	NM_000219.6(KCNE1):c.*2480A>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +3 more	GBenign
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 339723	NM_000219.6(KCNE1):c.*2461A>G	KCNE1	Single nucleotide variant (3 prime UTR variant)	Jervell and Lange-Nielsen syndrome 2 +2 more	GBenign/Likely benign
Select item 339724	NM_000219.6(KCNE1):c.*2413T>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 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 339725	NM_000219.6(KCNE1):c.*2329C>A	KCNE1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GUncertain significance
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 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 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 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 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 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 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 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 1326545	NM_000219.6(KCNE1):c.*2077GA[5]	KCNE1	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 339746	NM_000219.6(KCNE1):c.*1547dup	KCNE1	Duplication (3 prime UTR variant)	not provided +3 more	GBenign
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 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 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 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 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 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 339750	NM_000219.6(KCNE1):c.1226_1229del	KCNE1	Deletion (3 prime UTR variant)	not provided +3 more	GLikely benign
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 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 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 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 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 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 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 339756	NM_000219.6(KCNE1):c.*946del	KCNE1	Deletion (3 prime UTR variant)	Long QT syndrome +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 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 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 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 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 339762	NM_000219.6(KCNE1):c.*490G>C	KCNE1	Single nucleotide variant (3 prime UTR variant)	not provided +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 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 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 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 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 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 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 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 227456	NM_000219.3(KCNE1):c.(?_-50-60)_(*181_?)dup	KCNE1	Duplication	not specified	GLikely benign
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 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 339770	NM_000219.6(KCNE1):c.*91del	KCNE1	Deletion (3 prime UTR variant)	Long QT syndrome +2 more	GUncertain significance
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 179570	NM_000219.3(KCNE1):c.(?_1)_(390_?)dup	KCNE1	Duplication	not specified	GUncertain significance
Select item 1471991	NM_000219.6(KCNE1):c.388T>C (p.Ter130Arg)	KCNE1	Single nucleotide variant (stop lost)	Long QT syndrome	GUncertain significance
Select item 1056662	NM_000219.6(KCNE1):c.370_385del (p.Glu124fs)	KCNE1 (E124fs)	Deletion (frameshift variant)	Long QT syndrome	GUncertain significance
Select item 3373878	NM_000219.6(KCNE1):c.384C>T (p.Ser128=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome 5	Gnot provided
Select item 3373877	NM_000219.6(KCNE1):c.384C>G (p.Ser128=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome 5	Gnot provided
Select item 2155519	NM_000219.6(KCNE1):c.384C>A (p.Ser128=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 3373876	NM_000219.6(KCNE1):c.383C>G (p.Ser128Cys)	KCNE1 (S128C)	Single nucleotide variant (missense variant)	Long QT syndrome 5	Gnot provided
Select item 3373875	NM_000219.6(KCNE1):c.382T>G (p.Ser128Ala)	KCNE1 (S128A)	Single nucleotide variant (missense variant)	Long QT syndrome 5	Gnot provided
Select item 3373874	NM_000219.6(KCNE1):c.382T>C (p.Ser128Pro)	KCNE1 (S128P)	Single nucleotide variant (missense variant)	Long QT syndrome 5	Gnot provided
Select item 3373873	NM_000219.6(KCNE1):c.382T>A (p.Ser128Thr)	KCNE1 (S128T)	Single nucleotide variant (missense variant)	Long QT syndrome 5	Gnot provided
Select item 3373871	NM_000219.6(KCNE1):c.381T>G (p.Pro127=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome 5	Gnot provided
Select item 3373870	NM_000219.6(KCNE1):c.381T>C (p.Pro127=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome 5	Gnot provided
Select item 3373869	NM_000219.6(KCNE1):c.381T>A (p.Pro127=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome 5	Gnot provided
Select item 3373868	NM_000219.6(KCNE1):c.380C>G (p.Pro127Arg)	KCNE1 (P127R)	Single nucleotide variant (missense variant)	Long QT syndrome 5	Gnot provided
Select item 3373867	NM_000219.6(KCNE1):c.380C>A (p.Pro127His)	KCNE1 (P127H)	Single nucleotide variant (missense variant)	Long QT syndrome 5	Gnot provided
Select item 1020080	NM_000219.6(KCNE1):c.380C>T (p.Pro127Leu)	KCNE1 (P127L)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3373866	NM_000219.6(KCNE1):c.379C>G (p.Pro127Ala)	KCNE1 (P127A)	Single nucleotide variant (missense variant)	Long QT syndrome 5	Gnot provided
Select item 2824451	NM_000219.6(KCNE1):c.379C>T (p.Pro127Ser)	KCNE1 (P127S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 132680	NM_000219.6(KCNE1):c.379C>A (p.Pro127Thr)	KCNE1 (P127T)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +1 more	Gnot provided
Select item 3373865	NM_000219.6(KCNE1):c.378G>T (p.Lys126Asn)	KCNE1 (K126N)	Single nucleotide variant (missense variant)	Long QT syndrome 5	Gnot provided
Select item 3373863	NM_000219.6(KCNE1):c.378G>C (p.Lys126Asn)	KCNE1 (K126N)	Single nucleotide variant (missense variant)	Long QT syndrome 5	Gnot provided
Select item 3373862	NM_000219.6(KCNE1):c.377A>T (p.Lys126Met)	KCNE1 (K126M)	Single nucleotide variant (missense variant)	Long QT syndrome 5	Gnot provided
Select item 3373861	NM_000219.6(KCNE1):c.377A>G (p.Lys126Arg)	KCNE1 (K126R)	Single nucleotide variant (missense variant)	Long QT syndrome 5	Gnot provided
Select item 3373860	NM_000219.6(KCNE1):c.377A>C (p.Lys126Thr)	KCNE1 (K126T)	Single nucleotide variant (missense variant)	Long QT syndrome 5	Gnot provided
Select item 3373859	NM_000219.6(KCNE1):c.376A>T (p.Lys126Ter)	KCNE1 (K126*)	Single nucleotide variant (nonsense)	Long QT syndrome 5	Gnot provided
Select item 3373858	NM_000219.6(KCNE1):c.376A>G (p.Lys126Glu)	KCNE1 (K126E)	Single nucleotide variant (missense variant)	Long QT syndrome 5	Gnot provided
Select item 3373857	NM_000219.6(KCNE1):c.376A>C (p.Lys126Gln)	KCNE1 (K126Q)	Single nucleotide variant (missense variant)	Long QT syndrome 5	Gnot provided
Select item 3373856	NM_000219.6(KCNE1):c.375G>T (p.Thr125=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome 5	Gnot provided
Select item 3373855	NM_000219.6(KCNE1):c.375G>C (p.Thr125=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome 5	Gnot provided
Select item 1648075	NM_000219.6(KCNE1):c.375G>A (p.Thr125=)	KCNE1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3373853	NM_000219.6(KCNE1):c.374C>G (p.Thr125Arg)	KCNE1 (T125R)	Single nucleotide variant (missense variant)	Long QT syndrome 5	Gnot provided
Select item 3373852	NM_000219.6(KCNE1):c.374C>A (p.Thr125Lys)	KCNE1 (T125K)	Single nucleotide variant (missense variant)	Long QT syndrome 5	Gnot provided
Select item 132679	NM_000219.6(KCNE1):c.374C>T (p.Thr125Met)	KCNE1 (T125M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity

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