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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 67615	NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala)	KCNE2, LOC105372791 (T8A)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 6052	NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu)	KCNE2, LOC105372791 (Q9E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 67619	NM_172201.2(KCNE2):c.29C>T (p.Thr10Met)	LOC105372791, KCNE2 (T10M)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GConflicting classifications of pathogenicity
Select item 67621	NM_172201.2(KCNE2):c.40G>A (p.Val14Ile)	LOC105372791, KCNE2 (V14I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 67622	NM_172201.2(KCNE2):c.59T>A (p.Ile20Asn)	KCNE2, LOC105372791 (I20N)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	Gnot provided
Select item 6055	NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys)	KCNE2, LOC105372791 (R27C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 67623	NM_172201.2(KCNE2):c.80G>A (p.Arg27His)	KCNE2, LOC105372791 (R27H)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +2 more	GConflicting classifications of pathogenicity
Select item 6053	NM_172201.2(KCNE2):c.161T>C (p.Met54Thr)	KCNE2, LOC105372791 (M54T)	Single nucleotide variant (missense variant)	KCNE2-related disorder +3 more	GConflicting classifications of pathogenicity; risk factor
Select item 67610	NM_172201.2(KCNE2):c.166A>G (p.Met56Val)	KCNE2, LOC105372791 (M56V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 6054	NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)	KCNE2, LOC105372791 (I57T)	Single nucleotide variant (missense variant)	KCNE2-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 6056	NM_172201.2(KCNE2):c.178T>C (p.Phe60Leu)	KCNE2, LOC105372791 (F60L)	Single nucleotide variant (missense variant)	Long QT syndrome 3/6, digenic	GPathogenic
Select item 67612	NM_172201.2(KCNE2):c.193G>C (p.Val65Leu)	LOC105372791, KCNE2 (V65L)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 67611	NM_172201.2(KCNE2):c.193G>A (p.Val65Met)	KCNE2, LOC105372791 (V65M)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 67613	NM_172201.2(KCNE2):c.197C>T (p.Ala66Val)	KCNE2, LOC105372791 (A66V)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 67614	NM_172201.2(KCNE2):c.229C>T (p.Arg77Trp)	KCNE2, LOC105372791 (R77W)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 4 +4 more	GConflicting classifications of pathogenicity
Select item 67616	NM_172201.2(KCNE2):c.230G>A (p.Arg77Gln)	KCNE2, LOC105372791 (R77Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 67617	NM_172201.2(KCNE2):c.269A>G (p.Glu90Gly)	KCNE2, LOC105372791 (E90G)	Single nucleotide variant (missense variant)	Atrial fibrillation	Gnot provided
Select item 67618	NM_172201.2(KCNE2):c.281A>G (p.Glu94Gly)	KCNE2, LOC105372791 (E94G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 67620	NM_172201.2(KCNE2):c.347C>T (p.Ala116Val)	KCNE2, LOC105372791 (A116V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity