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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ1
(D242N +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GPathogenic/Likely pathogenic
KCNQ1
(R397W +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+11 more
GConflicting classifications of pathogenicity
KCNQ1
(V541I +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+4 more
GUncertain significance
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