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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN2A
Duplication
Seizures, benign familial infantile, 3
GLikely pathogenic
SCN2A
(E999K)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
+2 more
GPathogenic/Likely pathogenic
SCN2A
(R1435*)
Single nucleotide variant
(nonsense)
Seizures, benign familial infantile, 3
+4 more
GPathogenic/Likely pathogenic
SCN2A
(C1706S)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
GLikely pathogenic
SCN2A
(R1851W)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
GLikely pathogenic
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