"Génétique des Maladies du Développement, Hospices Civils de Lyon"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978813	NM_000834.5(GRIN2B):c.3638A>T (p.Asn1213Ile)	GRIN2B (N1213I)	Single nucleotide variant (missense variant)	Paroxysmal dystonia	GLikely benign
Select item 572441	NM_000834.5(GRIN2B):c.3028C>T (p.Pro1010Ser)	GRIN2B (P1010S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GConflicting classifications of pathogenicity
Select item 1098742	NM_000834.5(GRIN2B):c.2749T>G (p.Ser917Ala)	GRIN2B (S917A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27	GLikely benign
Select item 619997	NM_000834.5(GRIN2B):c.2560del (p.Cys854fs)	GRIN2B (C854fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 6 +1 more	GPathogenic
Select item 917869	NM_000834.5(GRIN2B):c.2392A>C (p.Thr798Pro)	GRIN2B (T798P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GPathogenic/Likely pathogenic
Select item 977621	NM_000834.5(GRIN2B):c.2236T>A (p.Cys746Ser)	GRIN2B (C746S)	Single nucleotide variant (missense variant)	Global developmental delay	GLikely pathogenic
Select item 224818	NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)	GRIN2B (G689S)	Single nucleotide variant (missense variant)	Developmental disorder +4 more	GPathogenic/Likely pathogenic

ClinVar