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Links from MedGen

Items: 96

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNE2, LOC105372791
Duplication
(non-coding transcript variant +2 more)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(Q9L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(non-coding transcript variant +1 more)
Long QT syndrome 6
GLikely benign
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
GLikely benign
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
GLikely benign
KCNE2, LOC105372791
(K40T)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(L11V)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(A39G)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
Duplication
(inframe_insertion)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(N81K)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
+1 more
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
GLikely benign
KCNE2, LOC105372791
(I100L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
LOC105372791, KCNE2
(H79R)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
+1 more
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
+1 more
GLikely benign
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
+1 more
GLikely benign
KCNE2, LOC105372791
(N29I)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(P83A)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
GLikely benign
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
GLikely benign
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
GLikely benign
KCNE2, LOC105372791
(T30I)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(V49fs)
Duplication
(frameshift variant)
Long QT syndrome 6
+2 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
(Y84H)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(S80P)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE1, KCNE2
+1 more
Duplication
Long QT syndrome
+1 more
GUncertain significance
KCNE2, LOC105372791
(A116T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCNE2, LOC105372791
(A116fs)
Duplication
(frameshift variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(S5P)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 4
+2 more
GUncertain significance
KCNE2, LOC105372791
(R27S)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
+1 more
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
GLikely benign
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
+2 more
GLikely benign
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
LOC105372791, KCNE2
(S98N)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2
Deletion
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(R16*)
Single nucleotide variant
(nonsense)
Long QT syndrome 6
+2 more
GUncertain significance
KCNE2, LOC105372791
(P123S)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(S122F)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(S74Y)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(G115V)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(N81S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(stop lost)
Cardiovascular phenotype
+1 more
GUncertain significance
KCNE2, LOC105372791
(M54V)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
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
(I57M)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
GLikely benign
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
GLikely benign
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
GLikely benign
KCNE2, LOC105372791
(S98R)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
+2 more
GLikely benign
KCNE1, KCNE2
+1 more
Duplication
Long QT syndrome
+1 more
GUncertain significance
KCNE2, LOC105372791
(M1T)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome 6
+1 more
GUncertain significance
CLIC6, KCNE2
+4 more
Deletion
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(V41A)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
+1 more
GUncertain significance
KCNE2, LOC105372791
(M23L)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 4
+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
(synonymous variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Long QT syndrome 6
+1 more
GLikely benign
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
KCNE2, LOC105372791
(I64V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
(S106L)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
+2 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
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)
Long QT syndrome 6
+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
(F119L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCNE2, LOC105372791
(S70N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
Deletion
(frameshift variant)
Cardiovascular phenotype
+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)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
KCNE2, LOC105372791
(R27H)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 4
+2 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
(V14I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GLikely benign
KCNE2, LOC105372791
(A116V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
(T10M)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
LOC105372791, KCNE2
(E94G)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
+1 more
GUncertain significance
KCNE2, LOC105372791
(T8A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
LOC105372791, KCNE2
(R77W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
(A66V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC105372791, KCNE2
(V65L)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
+1 more
GUncertain significance
KCNE2, LOC105372791
(V65M)
Single nucleotide variant
(missense variant)
Long QT syndrome 6
GUncertain significance
KCNE2, LOC105372791
(R27C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
(I57T)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+5 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
(M54T)
Single nucleotide variant
(missense variant)
KCNE2-Related Disorders
+3 more
GConflicting classifications of pathogenicity; risk factor
KCNE2, LOC105372791
(Q9E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
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