"GRIN2A-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1426421	NM_001134407.3(GRIN2A):c.4328G>A (p.Arg1443Lys)	GRIN2A (R1443K)	Single nucleotide variant (missense variant +1 more)	GRIN2A-related condition +1 more	GUncertain significance
Select item 205683	NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser)	GRIN2A (N1436S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1089372	NM_001134407.3(GRIN2A):c.4224G>A (p.Thr1408=)	GRIN2A	Single nucleotide variant (synonymous variant +1 more)	GRIN2A-related condition +1 more	GLikely benign
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 383332	NM_001134407.3(GRIN2A):c.4011G>A (p.Ser1337=)	GRIN2A	Single nucleotide variant (synonymous variant +1 more)	GRIN2A-related condition +2 more	GLikely benign
Select item 954337	NM_001134407.3(GRIN2A):c.3926G>T (p.Arg1309Leu)	GRIN2A (R1309L)	Single nucleotide variant (missense variant +1 more)	GRIN2A-related condition +1 more	GConflicting classifications of pathogenicity
Select item 265190	NM_001134407.3(GRIN2A):c.3898A>G (p.Arg1300Gly)	GRIN2A (R1300G)	Single nucleotide variant (missense variant +1 more)	GRIN2A-related condition +3 more	GConflicting classifications of pathogenicity
Select item 205679	NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)	GRIN2A (A1276G)	Single nucleotide variant (missense variant +1 more)	Landau-Kleffner syndrome +5 more	GConflicting classifications of pathogenicity
Select item 3045840	NM_001134407.3(GRIN2A):c.3824A>G (p.Asn1275Ser)	GRIN2A (N1275S)	Single nucleotide variant (missense variant +1 more)	GRIN2A-related condition	GUncertain significance
Select item 2633806	NM_001134407.3(GRIN2A):c.3482G>A (p.Gly1161Glu)	GRIN2A (G1161E)	Single nucleotide variant (missense variant)	GRIN2A-related condition	GUncertain significance
Select item 205693	NM_001134407.3(GRIN2A):c.3190A>G (p.Thr1064Ala)	GRIN2A (T1064A)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +4 more	GBenign/Likely benign
Select item 2630620	NM_001134407.3(GRIN2A):c.3095C>T (p.Ser1032Phe)	GRIN2A (S1032F)	Single nucleotide variant (missense variant)	GRIN2A-related condition	GUncertain significance
Select item 3061151	NM_001134407.3(GRIN2A):c.3091G>T (p.Val1031Phe)	GRIN2A (V1031F)	Single nucleotide variant (missense variant)	GRIN2A-related condition	GUncertain significance
Select item 464053	NM_001134407.3(GRIN2A):c.2805T>G (p.Val935=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome +2 more	GLikely benign
Select item 377942	NM_001134407.3(GRIN2A):c.2760A>G (p.Arg920=)	GRIN2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 205692	NM_001134407.3(GRIN2A):c.2627T>C (p.Ile876Thr)	GRIN2A (I876T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 205642	NM_001134407.3(GRIN2A):c.2277C>T (p.Thr759=)	GRIN2A	Single nucleotide variant (synonymous variant)	GRIN2A-related condition +3 more	GBenign/Likely benign
Select item 98467	NM_001134407.3(GRIN2A):c.2202C>G (p.Val734=)	GRIN2A	Single nucleotide variant (synonymous variant)	GRIN2A-related condition +3 more	GLikely benign
Select item 2632821	NM_001134407.3(GRIN2A):c.1766C>A (p.Ala589Asp)	GRIN2A (A589D)	Single nucleotide variant (missense variant)	GRIN2A-related condition	GUncertain significance
Select item 386654	NM_001134407.3(GRIN2A):c.1533G>A (p.Ser511=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome +3 more	GLikely benign
Select item 1359611	NM_001134407.3(GRIN2A):c.1457G>T (p.Gly486Val)	GRIN2A (G486V)	Single nucleotide variant (missense variant)	GRIN2A-related condition +1 more	GUncertain significance
Select item 205649	NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met)	GRIN2A (V452M)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2818010	NM_001134407.3(GRIN2A):c.1310G>T (p.Arg437Leu)	GRIN2A (R437L)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GUncertain significance
Select item 733088	NM_001134407.3(GRIN2A):c.1155G>C (p.Leu385=)	GRIN2A	Single nucleotide variant (synonymous variant)	GRIN2A-related condition +2 more	GLikely benign
Select item 2628542	NM_001134407.3(GRIN2A):c.996C>G (p.His332Gln)	GRIN2A (H332Q)	Single nucleotide variant (missense variant)	GRIN2A-related condition	GUncertain significance
Select item 656185	NM_001134407.3(GRIN2A):c.916A>T (p.Met306Leu)	GRIN2A (M306L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 377936	NM_001134407.3(GRIN2A):c.882C>T (p.Asp294=)	GRIN2A	Single nucleotide variant (synonymous variant)	GRIN2A-related condition +3 more	GBenign/Likely benign
Select item 317666	NM_001134407.3(GRIN2A):c.819A>G (p.Pro273=)	GRIN2A	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 284696	NM_001134407.3(GRIN2A):c.741C>T (p.Gly247=)	GRIN2A	Single nucleotide variant (synonymous variant)	GRIN2A-related condition +3 more	GConflicting classifications of pathogenicity
Select item 597012	NM_001134407.3(GRIN2A):c.736C>A (p.Leu246Ile)	GRIN2A (L246I)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +3 more	GConflicting classifications of pathogenicity
Select item 594200	NM_001134407.3(GRIN2A):c.678C>T (p.Val226=)	GRIN2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 379585	NM_001134407.3(GRIN2A):c.669C>T (p.His223=)	GRIN2A	Single nucleotide variant (synonymous variant)	GRIN2A-related condition +3 more	GBenign/Likely benign
Select item 284697	NM_001134407.3(GRIN2A):c.666C>T (p.Ile222=)	GRIN2A	Single nucleotide variant (synonymous variant)	GRIN2A-related condition +3 more	GConflicting classifications of pathogenicity
Select item 205638	NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met)	GRIN2A (T141M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign

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Items: 34