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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN2A
(M136I)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
SCN2A
(V221D)
Single nucleotide variant
(missense variant +1 more)
SCN2A-related disorder
GLikely pathogenic
SCN2A
(Q1479H)
Single nucleotide variant
(missense variant)
SCN2A-related disorder
+1 more
GLikely pathogenic
SCN2A
(L1829F)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+2 more
GConflicting classifications of pathogenicity
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