"Ambry Genetics"[submitter] AND "GRIN2A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1012392	NM_001134407.3(GRIN2A):c.4389T>G (p.Asp1463Glu)	GRIN2A (D1463E)	Single nucleotide variant (missense variant +1 more)	Landau-Kleffner syndrome +2 more	GUncertain significance
Select item 238192	NM_001134407.3(GRIN2A):c.4356C>G (p.Arg1452=)	GRIN2A	Single nucleotide variant (synonymous variant +1 more)	Landau-Kleffner syndrome +2 more	GBenign/Likely benign
Select item 520729	NM_001134407.3(GRIN2A):c.4354C>A (p.Arg1452Ser)	GRIN2A (R1452S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 205683	NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser)	GRIN2A (N1436S)	Single nucleotide variant (missense variant +1 more)	GRIN2A-related condition +4 more	GConflicting classifications of pathogenicity
Select item 444360	NM_001134407.3(GRIN2A):c.4250G>A (p.Arg1417Gln)	GRIN2A (R1417Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 532717	NM_001134407.3(GRIN2A):c.4245C>A (p.Asp1415Glu)	GRIN2A (D1415E)	Single nucleotide variant (missense variant +1 more)	Landau-Kleffner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2330761	NM_001134407.3(GRIN2A):c.4220C>T (p.Ser1407Leu)	GRIN2A (S1407L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 624081	NM_001134407.3(GRIN2A):c.4205G>C (p.Arg1402Pro)	GRIN2A (R1402P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 580884	NM_001134407.3(GRIN2A):c.4205G>A (p.Arg1402Gln)	GRIN2A (R1402Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 833932	NM_001134407.3(GRIN2A):c.4109C>G (p.Ser1370Cys)	GRIN2A (S1370C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2532928	NM_001134407.3(GRIN2A):c.4053C>A (p.Ser1351Arg)	GRIN2A (S1351R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 668692	NM_001134407.3(GRIN2A):c.3919C>T (p.Pro1307Ser)	GRIN2A (P1307S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1010982	NM_001134407.3(GRIN2A):c.3915C>G (p.Ser1305Arg)	GRIN2A (S1305R)	Single nucleotide variant (missense variant +1 more)	Landau-Kleffner syndrome +1 more	GLikely benign
Select item 590137	NM_001134407.3(GRIN2A):c.3909C>G (p.Asp1303Glu)	GRIN2A (D1303E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 588629	NM_001134407.3(GRIN2A):c.3879T>C (p.Asp1293=)	GRIN2A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 205679	NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)	GRIN2A (A1276G)	Single nucleotide variant (missense variant +1 more)	GRIN2A-related condition +5 more	GConflicting classifications of pathogenicity
Select item 1734887	NM_001134407.3(GRIN2A):c.3786C>T (p.Thr1262=)	GRIN2A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 129186	NM_001134407.3(GRIN2A):c.3702C>T (p.Phe1234=)	GRIN2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 98463	NM_001134407.3(GRIN2A):c.3647G>C (p.Ser1216Thr)	GRIN2A (S1216T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2340875	NM_001134407.3(GRIN2A):c.3637C>T (p.His1213Tyr)	GRIN2A (H1213Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 205644	NM_001134407.3(GRIN2A):c.3622C>A (p.Arg1208=)	GRIN2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 129198	NM_001134407.3(GRIN2A):c.3619T>C (p.Tyr1207His)	GRIN2A (Y1207H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 887250	NM_001134407.3(GRIN2A):c.3591T>A (p.Gly1197=)	GRIN2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2619738	NM_001134407.3(GRIN2A):c.3590G>A (p.Gly1197Asp)	GRIN2A (G1197D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 205675	NM_001134407.3(GRIN2A):c.3578T>G (p.Leu1193Trp)	GRIN2A (L1193W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1732757	NM_001134407.3(GRIN2A):c.3568C>T (p.His1190Tyr)	GRIN2A (H1190Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1428954	NM_001134407.3(GRIN2A):c.3522T>A (p.Asn1174Lys)	GRIN2A (N1174K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1732096	NM_001134407.3(GRIN2A):c.3504C>G (p.Asn1168Lys)	GRIN2A (N1168K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1731966	NM_001134407.3(GRIN2A):c.3493C>T (p.Leu1165=)	GRIN2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1983824	NM_001134407.3(GRIN2A):c.3432C>A (p.Asn1144Lys)	GRIN2A (N1144K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 381789	NM_001134407.3(GRIN2A):c.3426C>T (p.Pro1142=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome +2 more	GLikely benign
Select item 416691	NM_001134407.3(GRIN2A):c.3366T>G (p.Gly1122=)	GRIN2A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1730657	NM_001134407.3(GRIN2A):c.3365G>C (p.Gly1122Ala)	GRIN2A (G1122A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 205672	NM_001134407.3(GRIN2A):c.3363T>G (p.Asp1121Glu)	GRIN2A (D1121E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1730622	NM_001134407.3(GRIN2A):c.3362A>G (p.Asp1121Gly)	GRIN2A (D1121G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 934994	NM_001134407.3(GRIN2A):c.3311C>T (p.Thr1104Ile)	GRIN2A (T1104I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 321605	NM_001134407.3(GRIN2A):c.3246C>T (p.Thr1082=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome +2 more	GBenign/Likely benign
Select item 129196	NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys)	GRIN2A (N1076K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2521573	NM_001134407.3(GRIN2A):c.3215G>A (p.Arg1072Lys)	GRIN2A (R1072K)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GUncertain significance
Select item 464058	NM_001134407.3(GRIN2A):c.3211C>T (p.His1071Tyr)	GRIN2A (H1071Y)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 650080	NM_001134407.3(GRIN2A):c.3206C>T (p.Thr1069Met)	GRIN2A (T1069M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 205693	NM_001134407.3(GRIN2A):c.3190A>G (p.Thr1064Ala)	GRIN2A (T1064A)	Single nucleotide variant (missense variant)	GRIN2A-related condition +4 more	GBenign/Likely benign
Select item 1728367	NM_001134407.3(GRIN2A):c.3166A>G (p.Met1056Val)	GRIN2A (M1056V)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 373549	NM_001134407.3(GRIN2A):c.3163G>C (p.Glu1055Gln)	GRIN2A (E1055Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1727901	NM_001134407.3(GRIN2A):c.3126G>C (p.Arg1042Ser)	GRIN2A (R1042S)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GUncertain significance
Select item 2533459	NM_001134407.3(GRIN2A):c.3088C>G (p.Pro1030Ala)	GRIN2A (P1030A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1090035	NM_001134407.3(GRIN2A):c.3051C>T (p.Ser1017=)	GRIN2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2317971	NM_001134407.3(GRIN2A):c.3040T>C (p.Trp1014Arg)	GRIN2A (W1014R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 546769	NM_001134407.3(GRIN2A):c.3032G>A (p.Arg1011Gln)	GRIN2A (R1011Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 641793	NM_001134407.3(GRIN2A):c.3028C>A (p.Pro1010Thr)	GRIN2A (P1010T)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GLikely benign
Select item 2495586	NM_001134407.3(GRIN2A):c.3010T>C (p.Ser1004Pro)	GRIN2A (S1004P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 416692	NM_001134407.3(GRIN2A):c.2985G>C (p.Thr995=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome +1 more	GLikely benign
Select item 264707	NM_001134407.3(GRIN2A):c.2927A>G (p.Asn976Ser)	GRIN2A (N976S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 205665	NM_001134407.3(GRIN2A):c.2907C>G (p.Asn969Lys)	GRIN2A (N969K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 129195	NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu)	GRIN2A (V967L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 129194	NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=)	GRIN2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2313042	NM_001134407.3(GRIN2A):c.2842T>A (p.Ser948Thr)	GRIN2A (S948T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 532720	NM_001134407.3(GRIN2A):c.2811T>A (p.Asp937Glu)	GRIN2A (D937E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 934998	NM_001134407.3(GRIN2A):c.2809G>A (p.Asp937Asn)	GRIN2A (D937N)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GLikely benign
Select item 205664	NM_001134407.3(GRIN2A):c.2801T>C (p.Met934Thr)	GRIN2A (M934T)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +2 more	GUncertain significance
Select item 1025542	NM_001134407.3(GRIN2A):c.2771T>C (p.Phe924Ser)	GRIN2A (F924S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 377942	NM_001134407.3(GRIN2A):c.2760A>G (p.Arg920=)	GRIN2A	Single nucleotide variant (synonymous variant)	GRIN2A-related condition +4 more	GBenign/Likely benign
Select item 590070	NM_001134407.3(GRIN2A):c.2752C>T (p.Pro918Ser)	GRIN2A (P918S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 423738	NM_001134407.3(GRIN2A):c.2696G>A (p.Arg899Gln)	GRIN2A (R899Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 137513	NM_001134407.3(GRIN2A):c.2694C>T (p.Leu898=)	GRIN2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1135957	NM_001134407.3(GRIN2A):c.2681T>A (p.Met894Lys)	GRIN2A (M894K)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 321608	NM_001134407.3(GRIN2A):c.2664G>A (p.Thr888=)	GRIN2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1038751	NM_001134407.3(GRIN2A):c.2663C>G (p.Thr888Arg)	GRIN2A (T888R)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 753889	NM_001134407.3(GRIN2A):c.2652C>T (p.Asp884=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome +1 more	GLikely benign
Select item 661447	NM_001134407.3(GRIN2A):c.2635AAG[2] (p.Lys881del)	GRIN2A (K881del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GUncertain significance
Select item 205692	NM_001134407.3(GRIN2A):c.2627T>C (p.Ile876Thr)	GRIN2A (I876T)	Single nucleotide variant (missense variant)	GRIN2A-related condition +3 more	GConflicting classifications of pathogenicity
Select item 587980	NM_001134407.3(GRIN2A):c.2580C>T (p.Leu860=)	GRIN2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1793179	NM_001134407.3(GRIN2A):c.2567G>A (p.Arg856Gln)	GRIN2A (R856Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1000233	NM_001134407.3(GRIN2A):c.2494C>T (p.Leu832Phe)	GRIN2A (L832F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 321611	NM_001134407.3(GRIN2A):c.2478C>T (p.Ala826=)	GRIN2A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1791812	NM_001134407.3(GRIN2A):c.2473G>A (p.Ala825Thr)	GRIN2A (A825T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1791700	NM_001134407.3(GRIN2A):c.2467A>G (p.Met823Val)	GRIN2A (M823V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1790569	NM_001134407.3(GRIN2A):c.2391T>C (p.Thr797=)	GRIN2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 380404	NM_001134407.3(GRIN2A):c.2250C>T (p.Ile750=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome +2 more	GBenign/Likely benign
Select item 698269	NM_001134407.3(GRIN2A):c.2238G>A (p.Lys746=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome +1 more	GLikely benign
Select item 98467	NM_001134407.3(GRIN2A):c.2202C>G (p.Val734=)	GRIN2A	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +3 more	GLikely benign
Select item 129193	NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=)	GRIN2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 287546	NM_001134407.3(GRIN2A):c.2165C>T (p.Thr722Met)	GRIN2A (T722M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 985740	NM_001134407.3(GRIN2A):c.2143del (p.Asp715fs)	GRIN2A (D715fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 129192	NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=)	GRIN2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 444362	NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met)	GRIN2A (T690M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 852926	NM_001134407.3(GRIN2A):c.2024A>C (p.Asp675Ala)	GRIN2A (D675A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 985631	NM_001134407.3(GRIN2A):c.1925T>G (p.Leu642Arg)	GRIN2A (L642R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 985807	NM_001134407.3(GRIN2A):c.1903G>A (p.Ala635Thr)	GRIN2A (A635T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 2610446	NM_001134407.3(GRIN2A):c.1844A>G (p.Asn615Ser)	GRIN2A (N615S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
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 842422	NM_001134407.3(GRIN2A):c.1777+6G>C	GRIN2A	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 589887	NM_001134407.3(GRIN2A):c.1739G>T (p.Ser580Ile)	GRIN2A (S580I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589363	NM_001134407.3(GRIN2A):c.1738A>G (p.Ser580Gly)	GRIN2A (S580G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 520918	NM_001134407.3(GRIN2A):c.1651G>A (p.Glu551Lys)	GRIN2A (E551K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2603732	NM_001134407.3(GRIN2A):c.1509del (p.Gln503fs)	GRIN2A (Q503fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2606527	NM_001134407.3(GRIN2A):c.1498-4C>T	GRIN2A	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2620071	NM_001134407.3(GRIN2A):c.1487T>C (p.Met496Thr)	GRIN2A (M496T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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