KCNE1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
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

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