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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN8A
(D185E)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SCN8A
(M367V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
SCN8A
(N1089K)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GConflicting classifications of pathogenicity
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