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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNB2
(C245fs)
Deletion
(frameshift variant)
Autosomal dominant nocturnal frontal lobe epilepsy 3
+3 more
GUncertain significance
CHRNB2
(L282H)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 3
GLikely pathogenic