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Links from MedGen

Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ1
Single nucleotide variant
(splice donor variant)
Jervell and Lange-Nielsen syndrome
GLikely pathogenic
KCNE1
Single nucleotide variant
Congenital long QT syndrome
+2 more
GLikely benign
KCNE1
Single nucleotide variant
Congenital long QT syndrome
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
Congenital long QT syndrome
+2 more
GBenign
KCNE1
Single nucleotide variant
Long QT syndrome
+2 more
GUncertain significance
KCNE1
Deletion
(3 prime UTR variant)
Long QT syndrome
+2 more
GUncertain significance
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+4 more
GUncertain significance
KCNE1
Deletion
(3 prime UTR variant)
Long QT syndrome
+2 more
GLikely benign
KCNE1
Deletion
(3 prime UTR variant)
not provided
+3 more
GLikely benign
KCNE1
Duplication
(3 prime UTR variant)
not provided
+3 more
GBenign
KCNE1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 2
+4 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome
+4 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Microsatellite
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome
+4 more
GLikely benign
KCNQ1, KCNQ1-AS1
Deletion
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome
+4 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+4 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome
+4 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Deletion
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome
+4 more
GBenign/Likely benign
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+4 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Familial atrial fibrillation
+4 more
GLikely benign
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+4 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+4 more
GUncertain significance
KCNQ1, KCNQ1-AS1
(P533H +5 more)
Single nucleotide variant
(missense variant)
Short QT syndrome
+4 more
GUncertain significance
KCNQ1, KCNQ1-AS1
(T658N +5 more)
Single nucleotide variant
(missense variant)
Jervell and Lange-Nielsen syndrome
+4 more
GUncertain significance
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
Familial atrial fibrillation
+5 more
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
Cardiac arrhythmia
+7 more
GConflicting classifications of pathogenicity
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
Familial atrial fibrillation
+4 more
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
Familial atrial fibrillation
+4 more
GBenign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
Familial atrial fibrillation
+4 more
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
Familial atrial fibrillation
+4 more
GLikely benign
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
Familial atrial fibrillation
+4 more
GLikely benign
KCNQ1
Single nucleotide variant
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
KCNQ1
Single nucleotide variant
(intron variant)
Jervell and Lange-Nielsen syndrome
+4 more
GUncertain significance
KCNQ1
(S217F +2 more)
Single nucleotide variant
(missense variant)
Short QT syndrome
+4 more
GUncertain significance
KCNQ1
Single nucleotide variant
(synonymous variant)
Congenital long QT syndrome
+4 more
GUncertain significance
KCNQ1
(A10D)
Single nucleotide variant
(missense variant)
Familial atrial fibrillation
+4 more
GUncertain significance
KCNQ1
(V135fs +1 more)
Deletion
(frameshift variant)
Jervell and Lange-Nielsen syndrome
+3 more
GPathogenic/Likely pathogenic
KCNQ1
(S149fs +1 more)
Deletion
(frameshift variant)
Jervell and Lange-Nielsen syndrome
+1 more
GLikely pathogenic
KCNQ1
Single nucleotide variant
(synonymous variant)
not specified
+12 more
GBenign/Likely benign
KCNQ1
(R452Q +4 more)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 3
+13 more
GConflicting classifications of pathogenicity
KCNQ1
(R243H +2 more)
Single nucleotide variant
(missense variant)
Jervell and Lange-Nielsen syndrome 1
+5 more
GPathogenic/Likely pathogenic
KCNQ1
(D202N +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GPathogenic/Likely pathogenic
KCNQ1
(R192fs +1 more)
Deletion
(frameshift variant)
Congenital long QT syndrome
+8 more
GPathogenic
KCNQ1
(L36fs)
Deletion
(frameshift variant)
Long QT syndrome 1
+6 more
GPathogenic/Likely pathogenic
KCNQ1
(F296fs +1 more)
Duplication
(frameshift variant)
Ear malformation
+9 more
GPathogenic/Likely pathogenic
KCNQ1
(R397W +4 more)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 3
+11 more
GConflicting classifications of pathogenicity
KCNQ1
Single nucleotide variant
(intron variant)
Congenital long QT syndrome
+6 more
GBenign/Likely benign
KCNE1
(D76N)
Single nucleotide variant
(missense variant)
Long QT syndrome
+8 more
GConflicting classifications of pathogenicity
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