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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ1
(R192fs +1 more)
Deletion
(frameshift variant)
Congenital long QT syndrome
+8 more
GPathogenic
KCNQ1
(R518* +4 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+8 more
GPathogenic
KCNQ1
(Q530* +4 more)
Single nucleotide variant
(nonsense)
KCNQ1-related condition
+9 more
GPathogenic
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