ClinVar for MedGen (Select 1663334) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 860497	NM_001134407.3(GRIN2A):c.1497+5G>C	GRIN2A	Single nucleotide variant (intron variant)	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation +1 more	GConflicting classifications of pathogenicity
Select item 224108	NM_001134407.3(GRIN2A):c.4375A>G (p.Ser1459Gly)	GRIN2A (S1459G)	Single nucleotide variant (missense variant +1 more)	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation +1 more	GPathogenic/Likely pathogenic