"Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield N - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 132680	NM_000219.6(KCNE1):c.379C>A (p.Pro127Thr)	KCNE1 (P127T)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	Gnot provided
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 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 132676	NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp)	KCNE1 (R98W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 132675	NM_000219.6(KCNE1):c.259T>C (p.Trp87Arg)	KCNE1 (W87R)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	Gnot provided
Select item 13479	NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)	KCNE1 (D85N)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2 +7 more	GConflicting classifications of pathogenicity; other; risk factor
Select item 132673	NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys)	KCNE1 (E83K)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2 +5 more	GUncertain significance
Select item 132672	NM_000219.6(KCNE1):c.242A>T (p.Tyr81Phe)	KCNE1 (Y81F)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 132669	NM_000219.6(KCNE1):c.235A>G (p.Asn79Asp)	KCNE1 (N79D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 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 132666	NM_000219.6(KCNE1):c.220T>G (p.Ser74Ala)	KCNE1 (S74A)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 132665	NM_000219.6(KCNE1):c.210G>C (p.Lys70Asn)	KCNE1 (K70N)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	Gnot provided
Select item 132663	NM_000219.6(KCNE1):c.209A>T (p.Lys70Met)	KCNE1 (K70M)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 132662	NM_000219.6(KCNE1):c.206A>G (p.Lys69Arg)	KCNE1 (K69R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 67142	NM_000219.6(KCNE1):c.202T>A (p.Ser68Thr)	KCNE1 (S68T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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)	Long QT syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 132659	NM_000219.6(KCNE1):c.176T>C (p.Leu59Pro)	KCNE1 (L59P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 132658	NM_000219.6(KCNE1):c.172A>C (p.Thr58Pro)	KCNE1 (T58P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 132656	NM_000219.6(KCNE1):c.158T>C (p.Phe53Ser)	KCNE1 (F53S)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	Gnot provided
Select item 132655	NM_000219.6(KCNE1):c.155G>C (p.Gly52Ala)	KCNE1 (G52A)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 132654	NM_000219.6(KCNE1):c.154G>A (p.Gly52Arg)	KCNE1 (G52R)	Single nucleotide variant (missense variant)	Long QT syndrome	GPathogenic
Select item 132653	NM_000219.6(KCNE1):c.139G>T (p.Val47Phe)	KCNE1 (V47F)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	Gnot provided
Select item 132652	NM_000219.6(KCNE1):c.115G>A (p.Asp39Asn)	KCNE1 (D39N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 132651	NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly)	KCNE1 (S38G)	Single nucleotide variant (missense variant)	Noise induced hearing loss +7 more	GBenign
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 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 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 132681	NM_000219.6(KCNE1):c.59C>T (p.Thr20Ile)	KCNE1 (T20I)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	Gnot provided
Select item 132677	NM_000219.6(KCNE1):c.29C>T (p.Thr10Met)	KCNE1 (T10M)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 132670	NM_000219.6(KCNE1):c.23C>T (p.Ala8Val)	KCNE1 (A8V)	Single nucleotide variant (missense variant)	Long QT syndrome 5 +4 more	GUncertain significance
Select item 13476	NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile)	KCNE1 (T7I)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 2	GPathogenic

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Items: 35