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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPA6
(Q207*)
Single nucleotide variant
(nonsense)
Familial temporal lobe epilepsy 5
GUncertain significance
CPA6
(I43V)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 5
+1 more
GUncertain significance
CPA6
(R36H)
Single nucleotide variant
(missense variant)
Febrile seizures, familial, 11
GLikely pathogenic
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