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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN8A
(I142V)
Single nucleotide variant
(missense variant)
SCN8A-related disorder
+2 more
GConflicting classifications of pathogenicity
SCN8A
(I1327V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic