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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNH2
(Q81H +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
KCNQ1
(R174H +2 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic/Likely pathogenic
KCNQ1
(E508fs +1 more)
Deletion
(frameshift variant)
Long QT syndrome 1
GLikely pathogenic
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