ClinVar for Gene (Select 2903) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243420	NC_000016.9:g.(?_9857612)_(9865030_?)del	GRIN2A	Deletion	Landau-Kleffner syndrome	GPathogenic
Select item 3243419	NC_000016.9:g.(?_9916101)_(9943838_?)dup	GRIN2A	Duplication	Landau-Kleffner syndrome	GLikely pathogenic
Select item 3243418	NC_000016.9:g.(?_9943593)_(10032428_?)dup	GRIN2A	Duplication	Landau-Kleffner syndrome	GLikely pathogenic
Select item 3243417	NC_000016.9:g.(?_9892114)_(10032428_?)dup	GRIN2A	Duplication	Landau-Kleffner syndrome	GLikely pathogenic
Select item 3243415	NC_000016.9:g.(?_9916101)_(10274268_?)dup	GRIN2A	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 3243414	NC_000016.9:g.(?_9857006)_(9862966_?)dup	GRIN2A	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 3243413	NC_000016.9:g.(?_10273835)_(10274268_?)dup	GRIN2A	Duplication	Landau-Kleffner syndrome	GLikely benign
Select item 3243412	NC_000016.9:g.(?_9857006)_(10274268_?)dup	GRIN2A	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 3243411	NC_000016.9:g.(?_9892114)_(10032428_?)del	GRIN2A	Deletion	Landau-Kleffner syndrome	GPathogenic
Select item 3243410	NC_000016.9:g.(?_9857006)_(9892341_?)del	GRIN2A	Deletion	Landau-Kleffner syndrome	GPathogenic
Select item 3243409	NC_000016.9:g.(?_8829597)_(9923529_?)del	ABAT, CARHSP1 +5 more	Deletion	Landau-Kleffner syndrome	GPathogenic
Select item 3243408	NC_000016.9:g.(?_9862688)_(9862966_?)del	GRIN2A	Deletion	Landau-Kleffner syndrome	GPathogenic
Select item 3242071	NM_001134407.3(GRIN2A):c.92C>G (p.Pro31Arg)	GRIN2A (P31R)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 3236795	NM_001134407.3(GRIN2A):c.1643C>T (p.Ala548Val)	GRIN2A (A548V)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 3234998	NM_001134407.3(GRIN2A):c.3385C>T (p.His1129Tyr)	GRIN2A (H1129Y)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 3102471	NM_001134407.3(GRIN2A):c.4108T>C (p.Ser1370Pro)	GRIN2A (S1370P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3102470	NM_001134407.3(GRIN2A):c.3989G>T (p.Ser1330Ile)	GRIN2A (S1330I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3102469	NM_001134407.3(GRIN2A):c.3509A>T (p.Asn1170Ile)	GRIN2A (N1170I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102468	NM_001134407.3(GRIN2A):c.256G>T (p.Val86Leu)	GRIN2A (V86L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102467	NM_001134407.3(GRIN2A):c.1532C>A (p.Ser511Ter)	GRIN2A (S511*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3102466	NM_001134407.3(GRIN2A):c.1511G>C (p.Arg504Pro)	GRIN2A (R504P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102465	NM_001134407.3(GRIN2A):c.1140C>A (p.Asn380Lys)	GRIN2A (N380K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065068	NM_001134407.3(GRIN2A):c.2197G>C (p.Ala733Pro)	GRIN2A (A733P)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 3064535	NM_001134407.3(GRIN2A):c.3800A>G (p.Tyr1267Cys)	GRIN2A (Y1267C)	Single nucleotide variant (missense variant +1 more)	Landau-Kleffner syndrome	GUncertain significance
Select item 3064513	NM_001134407.3(GRIN2A):c.2519T>A (p.Leu840His)	GRIN2A (L840H)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 3061151	NM_001134407.3(GRIN2A):c.3091G>T (p.Val1031Phe)	GRIN2A (V1031F)	Single nucleotide variant (missense variant)	GRIN2A-related disorder	GUncertain significance
Select item 3045840	NM_001134407.3(GRIN2A):c.3824A>G (p.Asn1275Ser)	GRIN2A (N1275S)	Single nucleotide variant (missense variant +1 more)	GRIN2A-related disorder	GUncertain significance
Select item 3027410	GRCh37/hg19 16p13.2(chr16:10031816-10032408)x3	GRIN2A	Copy number gain	not provided	GLikely pathogenic
Select item 3027401	GRCh37/hg19 16p13.2(chr16:9934504-9934961)x1	GRIN2A	Copy number loss	not provided	GPathogenic
Select item 3026580	NM_001134407.3(GRIN2A):c.299T>C (p.Phe100Ser)	GRIN2A (F100S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026198	NM_001134407.3(GRIN2A):c.1347G>A (p.Gly449=)	GRIN2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024515	NM_001134407.3(GRIN2A):c.2466C>G (p.Tyr822Ter)	GRIN2A (Y822*)	Single nucleotide variant (nonsense)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 3024378	GRCh38/hg38 16p13.2(chr16:8937723-10049200)	LOC130058406, LOC130058407 +33 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3019462	NM_001134407.3(GRIN2A):c.1352A>G (p.Asn451Ser)	GRIN2A (N451S)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely benign
Select item 3019440	NM_001134407.3(GRIN2A):c.3172C>T (p.His1058Tyr)	GRIN2A (H1058Y)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely benign
Select item 3019153	NM_001134407.3(GRIN2A):c.1008-8C>T	GRIN2A	Single nucleotide variant (intron variant)	Landau-Kleffner syndrome	GLikely benign
Select item 3018048	NM_001134407.3(GRIN2A):c.1725C>T (p.Val575=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 3015925	NM_001134407.3(GRIN2A):c.1497+6T>C	GRIN2A	Single nucleotide variant (intron variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 3015924	NM_001134407.3(GRIN2A):c.1152C>G (p.Ser384Arg)	GRIN2A (S384R)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 3015288	NM_001134407.3(GRIN2A):c.3464G>T (p.Ser1155Ile)	GRIN2A (S1155I)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 3011678	NM_001134407.3(GRIN2A):c.1893A>G (p.Val631=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 3009156	NM_001134407.3(GRIN2A):c.2356+13G>C	GRIN2A	Single nucleotide variant (intron variant)	Landau-Kleffner syndrome	GLikely benign
Select item 3007837	NM_001134407.3(GRIN2A):c.2547C>A (p.Phe849Leu)	GRIN2A (F849L)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 3007209	NM_001134407.3(GRIN2A):c.2852G>A (p.Gly951Glu)	GRIN2A (G951E)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 3004204	NM_001134407.3(GRIN2A):c.1328+3G>A	GRIN2A	Single nucleotide variant (intron variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 3003045	NM_001134407.3(GRIN2A):c.858C>T (p.Tyr286=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 3002595	NM_001134407.3(GRIN2A):c.1008-3T>C	GRIN2A	Single nucleotide variant (intron variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 3002306	NM_001134407.3(GRIN2A):c.69G>A (p.Pro23=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 3001798	NM_001134407.3(GRIN2A):c.3198T>G (p.Asn1066Lys)	GRIN2A (N1066K)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 3001605	NM_001134407.3(GRIN2A):c.3315C>T (p.Tyr1105=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2997712	NM_001134407.3(GRIN2A):c.363C>T (p.Phe121=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2996371	NM_001134407.3(GRIN2A):c.4380C>T (p.Ile1460=)	GRIN2A	Single nucleotide variant (synonymous variant +1 more)	Landau-Kleffner syndrome	GLikely benign
Select item 2995269	NM_001134407.3(GRIN2A):c.2625C>T (p.His875=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2994054	NM_001134407.3(GRIN2A):c.123T>C (p.Gly41=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2993311	NM_001134407.3(GRIN2A):c.1007+17T>C	GRIN2A	Single nucleotide variant (intron variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2992617	NM_001134407.3(GRIN2A):c.3926G>A (p.Arg1309Gln)	GRIN2A (R1309Q)	Single nucleotide variant (intron variant +1 more)	Landau-Kleffner syndrome	GUncertain significance
Select item 2992514	NM_001134407.3(GRIN2A):c.3099G>A (p.Gln1033=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2988670	NM_001134407.3(GRIN2A):c.1329-20C>G	GRIN2A	Single nucleotide variant (intron variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2988550	NM_001134407.3(GRIN2A):c.1651+3G>A	GRIN2A	Single nucleotide variant (intron variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2987503	NM_001134407.3(GRIN2A):c.3065G>A (p.Arg1022His)	GRIN2A (R1022H)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2987302	NM_001134407.3(GRIN2A):c.1007+12C>A	GRIN2A	Single nucleotide variant (intron variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2984715	NM_001134407.3(GRIN2A):c.3299A>G (p.Glu1100Gly)	GRIN2A (E1100G)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 2983230	NM_001134407.3(GRIN2A):c.3446A>T (p.Asp1149Val)	GRIN2A (D1149V)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 2974777	NM_001134407.3(GRIN2A):c.18T>C (p.Tyr6=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2962115	NM_001134407.3(GRIN2A):c.2607C>T (p.Ser869=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2958587	NM_001134407.3(GRIN2A):c.2884G>A (p.Glu962Lys)	GRIN2A (E962K)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 2920587	NM_001134407.3(GRIN2A):c.1200G>A (p.Glu400=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2919391	NM_001134407.3(GRIN2A):c.3978C>T (p.Gly1326=)	GRIN2A	Single nucleotide variant (synonymous variant +1 more)	Landau-Kleffner syndrome	GLikely benign
Select item 2919126	NM_001134407.3(GRIN2A):c.2357-4C>G	GRIN2A	Single nucleotide variant (intron variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2914717	NM_001134407.3(GRIN2A):c.933C>T (p.Ser311=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2914160	NM_001134407.3(GRIN2A):c.3930C>T (p.Ser1310=)	GRIN2A	Single nucleotide variant (synonymous variant +1 more)	Landau-Kleffner syndrome	GLikely benign
Select item 2913437	NM_001134407.3(GRIN2A):c.1322A>C (p.Lys441Thr)	GRIN2A (K441T)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2911782	NM_001134407.3(GRIN2A):c.664A>G (p.Ile222Val)	GRIN2A (I222V)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 2908680	NM_001134407.3(GRIN2A):c.2838C>T (p.Asn946=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2908185	NM_001134407.3(GRIN2A):c.273C>G (p.Ser91=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2907423	NM_001134407.3(GRIN2A):c.2696G>C (p.Arg899Pro)	GRIN2A (R899P)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2906772	NM_001134407.3(GRIN2A):c.4274C>T (p.Ser1425Leu)	GRIN2A (S1425L)	Single nucleotide variant (missense variant +1 more)	Landau-Kleffner syndrome	GLikely benign
Select item 2901057	NM_001134407.3(GRIN2A):c.2463C>T (p.Phe821=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2895541	NM_001134407.3(GRIN2A):c.1317C>T (p.Phe439=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2895447	NM_001134407.3(GRIN2A):c.4047G>A (p.Glu1349=)	GRIN2A	Single nucleotide variant (synonymous variant +1 more)	Landau-Kleffner syndrome	GLikely benign
Select item 2892597	NM_001134407.3(GRIN2A):c.366C>T (p.Val122=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2889070	NM_001134407.3(GRIN2A):c.2975A>G (p.Asn992Ser)	GRIN2A (N992S)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 2887955	NM_001134407.3(GRIN2A):c.3635C>A (p.Thr1212Lys)	GRIN2A (T1212K)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2887223	NM_001134407.3(GRIN2A):c.3324C>A (p.Thr1108=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2885655	NM_001134407.3(GRIN2A):c.93C>T (p.Pro31=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2881960	NM_001134407.3(GRIN2A):c.2967T>C (p.Asn989=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2880825	NM_001134407.3(GRIN2A):c.4131G>C (p.Leu1377Phe)	GRIN2A (L1377F +1 more)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 2876523	NM_001134407.3(GRIN2A):c.2595+7A>G	GRIN2A	Single nucleotide variant (intron variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2870383	NM_001134407.3(GRIN2A):c.586G>C (p.Val196Leu)	GRIN2A (V196L)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 2870265	NM_001134407.3(GRIN2A):c.4117G>C (p.Asp1373His)	GRIN2A (D1373H)	Single nucleotide variant (missense variant +1 more)	Landau-Kleffner syndrome	GUncertain significance
Select item 2867040	NM_001134407.3(GRIN2A):c.2862C>T (p.Ser954=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2866755	NM_001134407.3(GRIN2A):c.1035C>T (p.Gly345=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2864953	NM_001134407.3(GRIN2A):c.2419G>A (p.Val807Met)	GRIN2A (V807M)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 2864841	NM_001134407.3(GRIN2A):c.3919C>A (p.Pro1307Thr)	GRIN2A (P1307T)	Single nucleotide variant (missense variant +1 more)	Landau-Kleffner syndrome	GUncertain significance
Select item 2863835	NM_001134407.3(GRIN2A):c.106A>G (p.Ile36Val)	GRIN2A (I36V)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 2863826	NM_001134407.3(GRIN2A):c.1914T>A (p.Ala638=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2862842	NM_001134407.3(GRIN2A):c.3785C>G (p.Thr1262Ser)	GRIN2A (T1262S)	Single nucleotide variant (intron variant +1 more)	Landau-Kleffner syndrome	GLikely benign
Select item 2862311	NM_001134407.3(GRIN2A):c.1565T>C (p.Val522Ala)	GRIN2A (V522A)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 2861887	NM_001134407.3(GRIN2A):c.468G>C (p.Thr156=)	GRIN2A	Single nucleotide variant (synonymous variant)	Landau-Kleffner syndrome	GLikely benign
Select item 2859642	NM_001134407.3(GRIN2A):c.3359T>G (p.Ile1120Arg)	GRIN2A (I1120R)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance

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