C0282512[trait identifier] AND "Fondazione Telethon, Telethon Institut - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488524	NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala)	GRIN2A (T646A)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1708207	NM_001134407.3(GRIN2A):c.1661G>C (p.Ser554Thr)	GRIN2A (S554T)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GPathogenic