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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ2
(V126L)
Single nucleotide variant
(missense variant)
Andersen Tawil syndrome
GUncertain significance
KCNJ2
(D281fs)
Deletion
(frameshift variant)
Andersen Tawil syndrome
GUncertain significance