"3billion"[submitter] AND "GRIN2A"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2139181	NM_001134407.3(GRIN2A):c.3602G>A (p.Ser1201Asn)	GRIN2A (S1201N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2415048	NM_001134407.3(GRIN2A):c.3250G>C (p.Asp1084His)	GRIN2A (D1084H)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GConflicting classifications of pathogenicity
Select item 205689	NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln)	GRIN2A (R695Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 444362	NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met)	GRIN2A (T690M)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +2 more	GConflicting classifications of pathogenicity
Select item 561021	NM_001134407.3(GRIN2A):c.1913C>T (p.Ala638Val)	GRIN2A (A638V)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 1320168	NM_001134407.3(GRIN2A):c.546dup (p.Phe183fs)	GRIN2A (F183fs)	Duplication (frameshift variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 2444252	NM_001134407.3(GRIN2A):c.253C>G (p.His85Asp)	GRIN2A (H85D)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 803219	NM_001134407.3(GRIN2A):c.250A>T (p.Thr84Ser)	GRIN2A (T84S)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GConflicting classifications of pathogenicity