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Links from MedGen

Items: 1 to 100 of 126

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNE1
Single nucleotide variant
(5 prime UTR variant +1 more)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+2 more
GLikely benign
KCNE1
(N79S)
Single nucleotide variant
(missense variant)
Jervell and Lange-Nielsen syndrome 2
+2 more
GUncertain significance
KCNE1
(S64I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
KCNE1
(R67S)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GUncertain significance
KCNE1
(L48F)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
KCNE1
(M27T)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
KCNE1
Single nucleotide variant
(5 prime UTR variant)
Long QT syndrome 5
+1 more
GLikely benign
KCNE1
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign
KCNE1
Single nucleotide variant
(5 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
(E116A)
Single nucleotide variant
(missense variant)
Jervell and Lange-Nielsen syndrome 2
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
KCNE1
Single nucleotide variant
(5 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(5 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(5 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+1 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+1 more
GUncertain significance
KCNE1
(G60D)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
KCNE1
(R67G)
Single nucleotide variant
(missense variant)
Jervell and Lange-Nielsen syndrome 2
+2 more
GUncertain significance
KCNE1
Duplication
(inframe_insertion)
Long QT syndrome
+1 more
GUncertain significance
KCNE1
(K70Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
KCNE1
(W17*)
Single nucleotide variant
(nonsense)
Long QT syndrome
GPathogenic
KCNE1
(W17*)
Single nucleotide variant
(nonsense)
Jervell and Lange-Nielsen syndrome 2
GPathogenic
KCNE1
(Y46*)
Single nucleotide variant
(nonsense)
Jervell and Lange-Nielsen syndrome 2
GPathogenic
KCNE1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
KCNE1
Single nucleotide variant
(5 prime UTR variant)
not specified
+4 more
GConflicting classifications of pathogenicity
KCNE1
(S38G)
Inversion
(missense variant)
Long QT syndrome 5
+4 more
GBenign/Likely benign
KCNE1
(N5*)
Duplication
(nonsense)
Cardiovascular phenotype
+4 more
GPathogenic
KCNE1
Single nucleotide variant
(5 prime UTR variant)
Long QT syndrome 5
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(5 prime UTR variant)
Congenital long QT syndrome
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(5 prime UTR variant)
Congenital long QT syndrome
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(5 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+2 more
GBenign
KCNE1
Single nucleotide variant
(5 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+2 more
GConflicting classifications of pathogenicity
KCNE1
Single nucleotide variant
(intron variant)
Long QT syndrome 5
+2 more
GConflicting classifications of pathogenicity
KCNE1
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
KCNE1
Single nucleotide variant
(5 prime UTR variant)
Long QT syndrome 5
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
KCNE1
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GBenign
KCNE1
Single nucleotide variant
(5 prime UTR variant)
Congenital long QT syndrome
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(5 prime UTR variant +1 more)
Long QT syndrome 5
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+3 more
GBenign/Likely benign
KCNE1
Single nucleotide variant
(5 prime UTR variant +1 more)
Long QT syndrome 5
+2 more
GConflicting classifications of pathogenicity
KCNE1
Single nucleotide variant
(5 prime UTR variant +1 more)
Long QT syndrome 5
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(5 prime UTR variant)
not specified
+3 more
GUncertain significance
KCNE1
Single nucleotide variant
(synonymous variant)
Jervell and Lange-Nielsen syndrome 2
+4 more
GConflicting classifications of pathogenicity
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+3 more
GConflicting classifications of pathogenicity
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+3 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+3 more
GConflicting classifications of pathogenicity
KCNE1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+2 more
GConflicting classifications of pathogenicity
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+3 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+4 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GConflicting classifications of pathogenicity
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GConflicting classifications of pathogenicity
KCNE1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+2 more
GLikely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GLikely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
not provided
+4 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GConflicting classifications of pathogenicity
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GConflicting classifications of pathogenicity
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+4 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GLikely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+3 more
GBenign/Likely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GLikely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 5
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GLikely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GConflicting classifications of pathogenicity
KCNE1
Single nucleotide variant
(no sequence alteration)
Congenital long QT syndrome
+3 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+3 more
GBenign/Likely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+3 more
GBenign/Likely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GLikely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GLikely benign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+2 more
GUncertain significance
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