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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPRL2
(V232I)
Single nucleotide variant
(missense variant)
Epilepsy, familial focal, with variable foci 2
+1 more
GConflicting classifications of pathogenicity
NPRL2
(Q188*)
Single nucleotide variant
(nonsense)
Epilepsy, familial focal, with variable foci 2
GLikely pathogenic