ClinVar for MedGen (Select 1381392) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708032	NM_001040142.2(SCN2A):c.2896G>C (p.Val966Leu)	SCN2A (V966L)	Single nucleotide variant (missense variant)	Epilepsy of infancy with migrating focal seizures	GLikely pathogenic
Select item 1707403	GRCh38/hg38 2q24.3(chr2:165155128-166062451)x1	CSRNP3, GALNT3 +15 more	Copy number loss	Epilepsy of infancy with migrating focal seizures	GPathogenic
Select item 1300201	NM_001040142.2(SCN2A):c.4018G>A (p.Val1340Ile)	SCN2A (V1340I)	Single nucleotide variant (missense variant)	Epilepsy of infancy with migrating focal seizures	GLikely pathogenic
Select item 1000049	NM_001040142.2(SCN2A):c.4901G>T (p.Gly1634Val)	SCN2A (G1634V)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +1 more	GPathogenic
Select item 207019	NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)	SCN2A (R1629H)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +3 more	GPathogenic/Likely pathogenic
Select item 206981	NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys)	SCN2A (E999K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic

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