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Links from MedGen

Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNE2, LOC105372791
(V49fs)
Duplication
(frameshift variant)
Atrial fibrillation, familial, 4
+2 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
(A116T)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 4
+2 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
(S5P)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 4
+2 more
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
+2 more
GLikely benign
LOC105372791, KCNE2
(N81S)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
+2 more
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 6
+1 more
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 6
+1 more
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 6
+1 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
(F60I)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
+1 more
GUncertain significance
KCNE2, LOC105372791
(N6S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCNE2, LOC105372791
(M1T)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 6
+1 more
GUncertain significance
KCNE2, LOC105372791
(M23L)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
+3 more
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 4
+2 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 4
+2 more
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Congenital long QT syndrome
+3 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
KCNE2, LOC105372791
Single nucleotide variant
(5 prime UTR variant)
Congenital long QT syndrome
+2 more
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
Single nucleotide variant
(5 prime UTR variant)
Familial atrial fibrillation
+4 more
GUncertain significance
KCNE2, LOC105372791
Deletion
(frameshift variant)
Long QT syndrome 6
+4 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
Single nucleotide variant
(intron variant)
Atrial fibrillation, familial, 4
+3 more
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
+4 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
(R27H)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 4
+2 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
(R77W)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 4
+4 more
GConflicting classifications of pathogenicity
LOC105372791, KCNE2
(V65L)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
+1 more
GUncertain significance
KCNE2, LOC105372791
(R27C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
(I57T)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
+5 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
(Q9E)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
+4 more
GBenign/Likely benign
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