"Center of Excellence for Medical Genomics, Chulalongkorn University"[ - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1704268	NM_001040142.2(SCN2A):c.781_782delinsTC (p.Val261Ser)	SCN2A (V261S)	Indel (missense variant)	Episodic ataxia, type 9	GLikely pathogenic
Select item 378927	NM_001040142.2(SCN2A):c.781G>A (p.Val261Met)	SCN2A (V261M)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GPathogenic
Select item 1704269	NM_001040142.2(SCN2A):c.4789T>C (p.Phe1597Leu)	SCN2A (F1597L)	Single nucleotide variant (missense variant)	Episodic ataxia, type 9	GPathogenic

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ClinVar