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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ1
Indel
(missense variant +1 more)
Long QT syndrome
GPathogenic
KCNQ1
(G168E +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
+1 more
GConflicting classifications of pathogenicity
KCNQ1
Deletion
Long QT syndrome
GPathogenic
KCNH2
Indel
(inframe_indel)
Long QT syndrome
GPathogenic
KCNQ1
(Y188H +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
KCNQ1
Deletion
Long QT syndrome
GPathogenic
KCNH2
(V290I +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+2 more
GConflicting classifications of pathogenicity
KCNH2
(V290A +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNH2
(V290L +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GConflicting classifications of pathogenicity
KCNH2
(N248D +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNH2
(G232C +4 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
Gnot provided
KCNQ1
(K318N +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNQ1
(Y315C +3 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GPathogenic/Likely pathogenic
KCNQ1
(G168R +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
KCNQ1
(G168R +2 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+5 more
GPathogenic
KCNQ1
(R366W +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+4 more
GPathogenic/Likely pathogenic
KCNQ1
(L353P +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
KCNH2
(A614V +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
+3 more
GPathogenic
KCNQ1
(G314S +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic
KCNQ1
(R190Q +2 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+5 more
GPathogenic/Likely pathogenic
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