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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN8A
(F260V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 13
GLikely pathogenic
SCN8A
(S978R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 13
GLikely pathogenic
SCN8A
(M1451T +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 13
+1 more
GConflicting classifications of pathogenicity
SCN8A
(I1583S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 13
GLikely pathogenic
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