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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN2A
(L62fs)
Insertion
(frameshift variant)
Non-syndromic intellectual disability
GPathogenic
SCN2A
(N273K)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
GLikely pathogenic
SCN2A
Single nucleotide variant
(intron variant)
Neurodevelopmental delay
GLikely pathogenic
SCN2A
(F1476I)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
GLikely pathogenic
SCN2A
(A1500V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
GLikely pathogenic
SCN2A
(I1541N)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
GLikely pathogenic
SCN2A
(M1879T)
Single nucleotide variant
(missense variant)
Complex neurodevelopmental disorder
GLikely pathogenic
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