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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CSRNP3, GALNT3
+15 more
Copy number loss
Epilepsy of infancy with migrating focal seizures
GPathogenic
B3GALT1, CSRNP3
+22 more
Copy number loss
West syndrome
GPathogenic
SCN2A
(V213A)
Single nucleotide variant
(missense variant +1 more)
Malignant migrating partial seizures of infancy
+1 more
GPathogenic/Likely pathogenic
SCN2A
(V1340I)
Single nucleotide variant
(missense variant)
Epilepsy of infancy with migrating focal seizures
GLikely pathogenic
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