C0282512[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 930449	NM_001134407.3(GRIN2A):c.3705G>C (p.Lys1235Asn)	GRIN2A (K1235N)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 930312	NM_001134407.3(GRIN2A):c.3199C>T (p.Arg1067Trp)	GRIN2A (R1067W)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 930722	NM_001134407.3(GRIN2A):c.3084G>C (p.Gln1028His)	GRIN2A (Q1028H)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 433122	NM_001134407.3(GRIN2A):c.2710A>T (p.Ile904Phe)	GRIN2A (I904F)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 930862	NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser)	GRIN2A (G498S)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GConflicting classifications of pathogenicity

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