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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ1
Single nucleotide variant
(intron variant +1 more)
Long QT syndrome 1
GConflicting classifications of pathogenicity
KCNQ1
(A178T +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+5 more
GPathogenic/Likely pathogenic
KCNQ1
(R181C +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GUncertain significance
KCNQ1
(L273F +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+3 more
GPathogenic
KCNQ1
(R293C +2 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+5 more
GConflicting classifications of pathogenicity
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