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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ1
(G179S +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+6 more
GPathogenic
KCNQ1
(W188* +2 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic