"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 139027	NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +4 more	GBenign/Likely benign
Select item 1284966	NM_001040142.2(SCN2A):c.2016+6G>T	SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 139032	NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=)	SCN2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 139011	NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +4 more	GBenign/Likely benign
Select item 130225	NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=)	SCN2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 130226	NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=)	SCN2A	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign

ClinVar