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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RORB
(P313Q +1 more)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 15
GUncertain significance
RORB
(E386fs +1 more)
Deletion
(frameshift variant)
Epilepsy, idiopathic generalized, susceptibility to, 15
GLikely pathogenic