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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ1
(R397W +4 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+11 more
GConflicting classifications of pathogenicity
KCNQ1
(R518* +4 more)
Single nucleotide variant
(nonsense)
Conduction disorder of the heart
+8 more
GPathogenic