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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNB4
(E490D +9 more)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 9
+2 more
GUncertain significance
CACNB4
(Q170fs +4 more)
Deletion
(frameshift variant +1 more)
Epilepsy, idiopathic generalized, susceptibility to, 9
GPathogenic