ClinVar for MedGen (Select 400041) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1475863	NM_172201.2(KCNE2):c.144dup (p.Val49fs)	LOC105372791, KCNE2 (V49fs)	Duplication (frameshift variant)	Long QT syndrome 6 +2 more	GConflicting classifications of pathogenicity
Select item 1390131	NM_172201.2(KCNE2):c.346G>A (p.Ala116Thr)	KCNE2, LOC105372791 (A116T)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +2 more	GConflicting classifications of pathogenicity
Select item 1217300	NM_172201.2(KCNE2):c.13T>C (p.Ser5Pro)	KCNE2, LOC105372791 (S5P)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +2 more	GUncertain significance
Select item 1107314	NM_172201.2(KCNE2):c.228A>G (p.Arg76=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 4 +2 more	GLikely benign
Select item 956020	NM_172201.2(KCNE2):c.242A>G (p.Asn81Ser)	KCNE2, LOC105372791 (N81S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 4 +2 more	GUncertain significance
Select item 899357	NM_172201.2(KCNE2):c.*234G>A	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 898250	NM_172201.2(KCNE2):c.*61C>T	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 898249	NM_172201.2(KCNE2):c.*11A>C	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 898248	NM_172201.2(KCNE2):c.178T>A (p.Phe60Ile)	KCNE2, LOC105372791 (F60I)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 895204	NM_172201.2(KCNE2):c.17A>G (p.Asn6Ser)	KCNE2, LOC105372791 (N6S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 659161	NM_172201.2(KCNE2):c.2T>C (p.Met1Thr)	KCNE2, LOC105372791 (M1T)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 560697	NM_172201.2(KCNE2):c.67A>T (p.Met23Leu)	LOC105372791, KCNE2 (M23L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 538876	NM_172201.2(KCNE2):c.204G>A (p.Leu68=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6 +2 more	GConflicting classifications of pathogenicity
Select item 339720	NM_172201.2(KCNE2):c.*240G>C	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 4 +2 more	GUncertain significance
Select item 339719	NM_172201.2(KCNE2):c.*62G>A	KCNE2, LOC105372791	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 339718	NM_172201.2(KCNE2):c.153G>T (p.Leu51=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 339717	NM_172201.2(KCNE2):c.-52G>A	KCNE2, LOC105372791	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 339716	NM_172201.2(KCNE2):c.-79G>A	KCNE2, LOC105372791	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 6 +3 more	GBenign/Likely benign
Select item 339715	NM_172201.2(KCNE2):c.-80C>T	KCNE2, LOC105372791	Single nucleotide variant (5 prime UTR variant)	Congenital long QT syndrome +2 more	GUncertain significance
Select item 339714	NM_172201.2(KCNE2):c.-85G>A	KCNE2, LOC105372791	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 339713	NM_172201.2(KCNE2):c.-121C>T	KCNE2, LOC105372791	Single nucleotide variant (5 prime UTR variant)	Familial atrial fibrillation +4 more	GUncertain significance
Select item 190797	NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?)	KCNE2, LOC105372791	Deletion (frameshift variant)	Long QT syndrome 6 +4 more	GConflicting classifications of pathogenicity
Select item 190793	NM_172201.2(KCNE2):c.-13+5G>A	KCNE2, LOC105372791	Single nucleotide variant (intron variant)	Congenital long QT syndrome +3 more	GUncertain significance
Select item 190792	NM_172201.2(KCNE2):c.354G>A (p.Gly118=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 67623	NM_172201.2(KCNE2):c.80G>A (p.Arg27His)	LOC105372791, KCNE2 (R27H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 67614	NM_172201.2(KCNE2):c.229C>T (p.Arg77Trp)	KCNE2, LOC105372791 (R77W)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +4 more	GConflicting classifications of pathogenicity
Select item 67612	NM_172201.2(KCNE2):c.193G>C (p.Val65Leu)	KCNE2, LOC105372791 (V65L)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 6055	NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys)	KCNE2, LOC105372791 (R27C)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +3 more	GConflicting classifications of pathogenicity
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 6052	NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu)	KCNE2, LOC105372791 (Q9E)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign

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Items: 30