"Ambry Genetics"[submitter] AND "KCNE1"[gene] - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1648075	NM_000219.6(KCNE1):c.375G>A (p.Thr125=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 132679	NM_000219.6(KCNE1):c.374C>T (p.Thr125Met)	KCNE1 (T125M)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
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 2453431	NM_000219.6(KCNE1):c.343A>G (p.Ile115Val)	KCNE1 (I115V)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2453430	NM_000219.6(KCNE1):c.341C>T (p.Ala114Val)	KCNE1 (A114V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230644	NM_000219.6(KCNE1):c.340G>T (p.Ala114Ser)	KCNE1 (A114S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230643	NM_000219.6(KCNE1):c.340G>A (p.Ala114Thr)	KCNE1 (A114T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2189532	NM_000219.6(KCNE1):c.339G>A (p.Leu113=)	KCNE1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 692249	NM_000219.6(KCNE1):c.335A>G (p.His112Arg)	KCNE1 (H112R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 132678	NM_000219.6(KCNE1):c.325G>A (p.Val109Ile)	KCNE1 (V109I)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1728290	NM_000219.6(KCNE1):c.315G>C (p.Ser105=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 505155	NM_000219.6(KCNE1):c.315G>A (p.Ser105=)	KCNE1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 847523	NM_000219.6(KCNE1):c.314C>T (p.Ser105Leu)	KCNE1 (S105L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 227457	NM_000219.6(KCNE1):c.297C>G (p.Val99=)	KCNE1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 228764	NM_000219.6(KCNE1):c.293G>A (p.Arg98Gln)	KCNE1 (R98Q)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 132676	NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp)	KCNE1 (R98W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1410427	NM_000219.6(KCNE1):c.287A>G (p.Gln96Arg)	KCNE1 (Q96R)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2453429	NM_000219.6(KCNE1):c.280T>C (p.Tyr94His)	KCNE1 (Y94H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 427969	NM_000219.6(KCNE1):c.273C>G (p.Asp91Glu)	KCNE1 (D91E)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 2481301	NM_000219.6(KCNE1):c.268A>G (p.Lys90Glu)	KCNE1 (K90E)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1794434	NM_000219.6(KCNE1):c.265G>A (p.Glu89Lys)	KCNE1 (E89K)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1793098	NM_000219.6(KCNE1):c.255T>C (p.Asp85=)	KCNE1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 13479	NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)	KCNE1 (D85N)	Single nucleotide variant (missense variant)	Long QT syndrome 5 +7 more	GConflicting classifications of pathogenicity; other; risk factor
Select item 666704	NM_000219.6(KCNE1):c.252C>T (p.Ser84=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 1791774	NM_000219.6(KCNE1):c.247_248delinsAC (p.Glu83Thr)	KCNE1 (E83T)	Indel (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 132673	NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys)	KCNE1 (E83K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 2587504	NM_000219.6(KCNE1):c.246C>G (p.Ile82Met)	KCNE1 (I82M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1791451	NM_000219.6(KCNE1):c.244A>G (p.Ile82Val)	KCNE1 (I82V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 132671	NM_000219.6(KCNE1):c.242A>G (p.Tyr81Cys)	KCNE1 (Y81C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 228762	NM_000219.6(KCNE1):c.238G>A (p.Val80Ile)	KCNE1 (V80I)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 13477	NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)	KCNE1 (D76N)	Single nucleotide variant (missense variant)	Long QT syndrome 5 +8 more	GConflicting classifications of pathogenicity
Select item 377998	NM_000219.6(KCNE1):c.225C>T (p.Asn75=)	KCNE1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 698495	NM_000219.6(KCNE1):c.222G>A (p.Ser74=)	KCNE1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 409231	NM_000219.6(KCNE1):c.221C>G (p.Ser74Trp)	KCNE1 (S74W)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 13478	NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu)	KCNE1 (S74L)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1036212	NM_000219.6(KCNE1):c.208A>G (p.Lys70Glu)	KCNE1 (K70E)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 568509	NM_000219.6(KCNE1):c.208A>C (p.Lys70Gln)	KCNE1 (K70Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 132662	NM_000219.6(KCNE1):c.206A>G (p.Lys69Arg)	KCNE1 (K69R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1785185	NM_000219.6(KCNE1):c.205A>G (p.Lys69Glu)	KCNE1 (K69E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 132661	NM_000219.6(KCNE1):c.200G>A (p.Arg67His)	KCNE1 (R67H)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2 +4 more	GUncertain significance
Select item 132660	NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys)	KCNE1 (R67C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 3230642	NM_000219.6(KCNE1):c.196A>C (p.Ile66Leu)	KCNE1 (I66L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 163728	NM_000219.6(KCNE1):c.174C>G (p.Thr58=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 372392	NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile)	KCNE1 (T58I)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GConflicting classifications of pathogenicity
Select item 132657	NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser)	KCNE1 (G55S)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2 +5 more	GConflicting classifications of pathogenicity
Select item 226685	NM_000219.6(KCNE1):c.162C>T (p.Phe54=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome +5 more	GBenign/Likely benign
Select item 1774826	NM_000219.6(KCNE1):c.153G>T (p.Leu51=)	KCNE1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2587505	NM_000219.6(KCNE1):c.148G>A (p.Val50Ile)	KCNE1 (V50I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1060040	NM_000219.6(KCNE1):c.142C>T (p.Leu48Phe)	KCNE1 (L48F)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2 +4 more	GUncertain significance
Select item 3230641	NM_000219.6(KCNE1):c.140T>A (p.Val47Asp)	KCNE1 (V47D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1772002	NM_000219.6(KCNE1):c.140T>C (p.Val47Ala)	KCNE1 (V47A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 527065	NM_000219.6(KCNE1):c.139G>A (p.Val47Ile)	KCNE1 (V47I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 527058	NM_000219.6(KCNE1):c.138C>T (p.Tyr46=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 517181	NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys)	KCNE1 (Y46C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 237229	NM_000219.6(KCNE1):c.123G>C (p.Lys41Asn)	KCNE1 (K41N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 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 527042	NM_000219.6(KCNE1):c.118G>A (p.Gly40Ser)	KCNE1 (G40S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1123193	NM_000219.6(KCNE1):c.117C>T (p.Asp39=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 421865	NM_000219.6(KCNE1):c.112_113delinsGA (p.Ser38Asp)	KCNE1 (S38D)	Indel (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 388079	NM_000219.6(KCNE1):c.113G>A (p.Ser38Asn)	KCNE1 (S38N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 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 +4 more	GBenign/Likely benign
Select item 132651	NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly)	KCNE1 (S38G)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +7 more	GBenign
Select item 506395	NM_000219.6(KCNE1):c.111C>T (p.Ser37=)	KCNE1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 289867	NM_000219.6(KCNE1):c.108_109delinsGG (p.Ser37Gly)	KCNE1 (S37G)	Indel (missense variant)	not provided +4 more	GUncertain significance
Select item 132650	NM_000219.6(KCNE1):c.107G>A (p.Arg36His)	KCNE1 (R36H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 518804	NM_000219.6(KCNE1):c.106C>T (p.Arg36Cys)	KCNE1 (R36C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3014399	NM_000219.6(KCNE1):c.99G>T (p.Arg33Ser)	KCNE1 (R33S)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 132683	NM_000219.6(KCNE1):c.95G>A (p.Arg32His)	KCNE1 (R32H)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2 +5 more	GUncertain significance
Select item 191466	NM_000219.6(KCNE1):c.94C>T (p.Arg32Cys)	KCNE1 (R32C)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 2242499	NM_000219.6(KCNE1):c.92C>T (p.Ala31Val)	KCNE1 (A31V)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1766174	NM_000219.6(KCNE1):c.91G>A (p.Ala31Thr)	KCNE1 (A31T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 178611	NM_000219.6(KCNE1):c.84G>A (p.Ser28=)	KCNE1	Single nucleotide variant (synonymous variant)	Jervell and Lange-Nielsen syndrome 2 +5 more	GBenign/Likely benign
Select item 132682	NM_000219.6(KCNE1):c.83C>T (p.Ser28Leu)	KCNE1 (S28L)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2 +4 more	GUncertain significance
Select item 1754995	NM_000219.6(KCNE1):c.66G>T (p.Gln22His)	KCNE1 (Q22H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230646	NM_000219.6(KCNE1):c.61G>A (p.Val21Ile)	KCNE1 (V21I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 339772	NM_000219.6(KCNE1):c.54G>A (p.Gln18=)	KCNE1	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1743967	NM_000219.6(KCNE1):c.48G>A (p.Leu16=)	KCNE1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230645	NM_000219.6(KCNE1):c.43A>C (p.Lys15Gln)	KCNE1 (K15Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 519556	NM_000219.6(KCNE1):c.37C>T (p.Leu13=)	KCNE1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 163730	NM_000219.6(KCNE1):c.30G>A (p.Thr10=)	KCNE1	Single nucleotide variant (synonymous variant)	KCNE1-related condition +7 more	GBenign/Likely benign
Select item 132677	NM_000219.6(KCNE1):c.29C>T (p.Thr10Met)	KCNE1 (T10M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 137977	NM_000219.6(KCNE1):c.24G>A (p.Ala8=)	KCNE1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 132670	NM_000219.6(KCNE1):c.23C>T (p.Ala8Val)	KCNE1 (A8V)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2 +4 more	GUncertain significance
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 519286	NM_000219.6(KCNE1):c.9G>A (p.Leu3=)	KCNE1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 377997	NM_000219.6(KCNE1):c.8T>C (p.Leu3Pro)	KCNE1 (L3P)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 42494	NM_000219.6(KCNE1):c.-3del	KCNE1	Deletion (5 prime UTR variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 504745	NM_000219.6(KCNE1):c.-5C>A	KCNE1	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GConflicting classifications of pathogenicity

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Items: 89