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Links from MedGen

Items: 1 to 100 of 190

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ1, KCNQ1-AS1
Deletion
(stop lost)
Atrial fibrillation, familial, 3
+2 more
GLikely pathogenic
KCNQ1
(S95R)
Single nucleotide variant
(missense variant +1 more)
Short QT syndrome type 2
+2 more
GUncertain significance
KCNQ1
(F237L +2 more)
Single nucleotide variant
(missense variant +1 more)
Atrial fibrillation, familial, 3
+3 more
GUncertain significance
KCNQ1
(S27T)
Single nucleotide variant
(missense variant +1 more)
Atrial fibrillation, familial, 3
+3 more
GUncertain significance
KCNQ1
Single nucleotide variant
(intron variant)
Long QT syndrome
+5 more
GLikely benign
KCNQ1
(R132fs +1 more)
Duplication
(frameshift variant)
Long QT syndrome
+4 more
GPathogenic/Likely pathogenic
KCNQ1, KCNQ1OT1
(T501A +4 more)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 3
+5 more
GUncertain significance
KCNQ1
(L187F +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
KCNQ1, KCNQ1-AS1
(G495S +5 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 2
+6 more
GUncertain significance
KCNQ1
(S66Y)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 3
+7 more
GUncertain significance
KCNQ1, KCNQ1-AS1
(G646S +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+7 more
GConflicting classifications of pathogenicity
KCNQ1, KCNQ1OT1
(A359T +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+7 more
GUncertain significance
KCNQ1
(A160V +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+7 more
GUncertain significance
KCNQ1, KCNQ1-AS1
(G635E +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+8 more
GUncertain significance
KCNQ1
(G462S +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+9 more
GConflicting classifications of pathogenicity
KCNQ1-AS1, KCNQ1
(C515R +5 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+5 more
GUncertain significance
KCNQ1
(K266E +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+6 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(intron variant)
Cardiac arrhythmia
+6 more
GLikely benign
KCNQ1
(K413R +4 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+7 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 1
+3 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 1
+3 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 1
+3 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 1
+3 more
GConflicting classifications of pathogenicity
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
Cardiac arrhythmia
+4 more
GConflicting classifications of pathogenicity
KCNQ1
Single nucleotide variant
(intron variant)
Long QT syndrome
+4 more
GConflicting classifications of pathogenicity
KCNQ1
(P63T)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+3 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Jervell and Lange-Nielsen syndrome 1
+3 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Long QT syndrome 1
+3 more
GUncertain significance
KCNQ1, KCNQ1-AS1
(R505K +5 more)
Single nucleotide variant
(missense variant)
Jervell and Lange-Nielsen syndrome 1
+3 more
GUncertain significance
KCNQ1
Single nucleotide variant
(intron variant)
Long QT syndrome 1
+3 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 2
+3 more
GUncertain significance
KCNQ1
Single nucleotide variant
(intron variant)
Long QT syndrome
+4 more
GConflicting classifications of pathogenicity
KCNQ1
Single nucleotide variant
(intron variant)
Long QT syndrome 1
+3 more
GUncertain significance
KCNQ1
Single nucleotide variant
(5 prime UTR variant)
Short QT syndrome type 2
+3 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 2
+3 more
GBenign/Likely benign
KCNQ1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
KCNQ1
Single nucleotide variant
(intron variant)
Atrial fibrillation, familial, 3
+3 more
GUncertain significance
KCNQ1
(A384T +4 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 2
+5 more
GUncertain significance
KCNQ1
(R14L)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+7 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
KCNQ1
(A243V +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+8 more
GConflicting classifications of pathogenicity
KCNQ1
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+7 more
GLikely benign
KCNQ1
(D332N +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+7 more
GConflicting classifications of pathogenicity
KCNQ1
(L139M +2 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 2
+1 more
GUncertain significance
KCNQ1
(R65C +2 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+8 more
GUncertain significance
KCNQ1
(R380Q +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+7 more
GUncertain significance
KCNQ1, KCNQ1OT1
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+8 more
GLikely benign
KCNQ1
(V215G +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
KCNQ1, KCNQ1-AS1
(A509fs +1 more)
Duplication
(frameshift variant)
Atrial fibrillation, familial, 3
+6 more
GUncertain significance
KCNQ1
(P67fs)
Deletion
(frameshift variant)
Long QT syndrome 1
+8 more
GPathogenic/Likely pathogenic
KCNQ1, KCNQ1-AS1
(G502S +5 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+10 more
GUncertain significance
KCNQ1
(V165M +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+8 more
GUncertain significance
KCNQ1, KCNQ1OT1
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+8 more
GBenign/Likely benign
KCNQ1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
KCNQ1
(T169M +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+8 more
GUncertain significance
KCNQ1
(A300E +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+5 more
GConflicting classifications of pathogenicity
KCNQ1
Single nucleotide variant
(synonymous variant)
not provided
+9 more
GBenign/Likely benign
KCNQ1
Single nucleotide variant
(intron variant)
not provided
+6 more
GConflicting classifications of pathogenicity
KCNQ1
(F279I +2 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 2
GPathogenic
KCNQ1
(E323G +4 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+7 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 2
+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)
Atrial fibrillation, familial, 3
+4 more
GConflicting classifications of pathogenicity
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 3
+4 more
GLikely benign
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 2
+6 more
GBenign
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 3
+4 more
GConflicting classifications of pathogenicity
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 2
+4 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 3
+6 more
GBenign
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+5 more
GConflicting classifications of pathogenicity
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 3
+4 more
GBenign/Likely benign
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 3
+5 more
GBenign/Likely benign
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 2
+5 more
GBenign/Likely benign
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 3
+4 more
GConflicting classifications of pathogenicity
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 2
+4 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 2
+4 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 2
+4 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 2
+4 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 2
+4 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 3
+5 more
GBenign/Likely benign
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 2
+6 more
GBenign
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+5 more
GBenign/Likely benign
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+5 more
GBenign/Likely benign
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 2
+4 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 2
+4 more
GConflicting classifications of pathogenicity
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 2
+5 more
GBenign/Likely benign
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Short QT syndrome type 2
+4 more
GBenign/Likely benign
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 3
+4 more
GConflicting classifications of pathogenicity
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 3
+4 more
GBenign/Likely benign
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
+5 more
GBenign/Likely benign
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 3
+4 more
GUncertain significance
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(3 prime UTR variant)
Atrial fibrillation, familial, 3
+4 more
GUncertain significance
KCNQ1
Single nucleotide variant
(intron variant)
Short QT syndrome type 2
+4 more
GUncertain significance
KCNQ1, KCNQ1OT1
Single nucleotide variant
(intron variant)
Long QT syndrome
+5 more
GConflicting classifications of pathogenicity
KCNQ1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GBenign/Likely benign
KCNQ1
Single nucleotide variant
(intron variant)
Congenital long QT syndrome
+7 more
GConflicting classifications of pathogenicity
KCNQ1
Single nucleotide variant
(5 prime UTR variant)
Short QT syndrome type 2
+5 more
GConflicting classifications of pathogenicity
KCNQ1
Single nucleotide variant
(5 prime UTR variant)
Short QT syndrome type 2
+5 more
GUncertain significance
KCNQ1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GLikely benign
KCNQ1, KCNQ1-AS1
Single nucleotide variant
(synonymous variant)
not specified
+9 more
GConflicting classifications of pathogenicity
KCNQ1
(R274Q +4 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
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