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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNH2
(P529L +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+6 more
GUncertain significance
KCNH2
(V340fs +1 more)
Deletion
(frameshift variant)
Long QT syndrome 2
GPathogenic
KCNH2
(M311R +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GLikely pathogenic
KCNQ1
Single nucleotide variant
(synonymous variant)
Long QT syndrome 1
+6 more
GPathogenic
SNTA1
(A123G)
Single nucleotide variant
(missense variant)
Long QT syndrome 2
GLikely benign
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