C0282512[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028881	NM_001134407.3(GRIN2A):c.4234T>A (p.Cys1412Ser)	GRIN2A (C1412S)	Single nucleotide variant (missense variant +1 more)	Landau-Kleffner syndrome	GUncertain significance
Select item 387493	NM_001134407.3(GRIN2A):c.4170G>A (p.Ser1390=)	GRIN2A (R1276H)	Single nucleotide variant (synonymous variant +1 more)	GRIN2A-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2671962	NM_001134407.3(GRIN2A):c.3979A>G (p.Ser1327Gly)	GRIN2A (S1327G)	Single nucleotide variant (missense variant +1 more)	Landau-Kleffner syndrome	GUncertain significance
Select item 1028880	NM_001134407.3(GRIN2A):c.3896C>G (p.Pro1299Arg)	GRIN2A (P1299R)	Single nucleotide variant (missense variant +1 more)	Landau-Kleffner syndrome	GUncertain significance
Select item 1028879	NM_001134407.3(GRIN2A):c.3379G>C (p.Gly1127Arg)	GRIN2A (G1127R)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 1028878	NM_001134407.3(GRIN2A):c.3230G>C (p.Ser1077Thr)	GRIN2A (S1077T)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 1712485	NM_001134407.3(GRIN2A):c.2748C>G (p.Asp916Glu)	GRIN2A (D916E)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GUncertain significance
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 224990	NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser)	GRIN2A (N614S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1028877	NM_001134407.3(GRIN2A):c.1516G>A (p.Val506Ile)	GRIN2A (V506I)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 1028876	NM_001134407.3(GRIN2A):c.1313A>G (p.Lys438Arg)	GRIN2A (K438R)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 1028875	NM_001134407.3(GRIN2A):c.1087G>T (p.Val363Leu)	GRIN2A (V363L)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 1028882	NM_001134407.3(GRIN2A):c.593G>A (p.Trp198Ter)	GRIN2A (W198*)	Single nucleotide variant (nonsense)	Landau-Kleffner syndrome	GPathogenic
Select item 532715	NM_001134407.3(GRIN2A):c.288C>G (p.His96Gln)	GRIN2A (H96Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1031668	NM_001134407.3(GRIN2A):c.67_81del (p.Pro23_Ala27del)	GRIN2A	Deletion (inframe_deletion)	Landau-Kleffner syndrome	GConflicting classifications of pathogenicity