ClinVar for Gene (Select 2903) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369452	NM_001134407.3(GRIN2A):c.4069C>G (p.Leu1357Val)	GRIN2A (L1357V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369254	NM_001134407.3(GRIN2A):c.1209C>G (p.Asp403Glu)	GRIN2A (D403E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369242	NM_001134407.3(GRIN2A):c.1329-28_1329-5del	GRIN2A	Deletion (intron variant)	not provided	GUncertain significance
Select item 3367807	NM_001134407.3(GRIN2A):c.3677G>A (p.Gly1226Asp)	GRIN2A (G1226D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366671	NM_001134407.3(GRIN2A):c.1878C>T (p.Thr626=)	GRIN2A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3365128	NM_001134407.3(GRIN2A):c.1760A>T (p.Asn587Ile)	GRIN2A (N587I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365126	NM_001134407.3(GRIN2A):c.2553C>T (p.Gly851=)	GRIN2A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3365013	NM_001134407.3(GRIN2A):c.3862C>T (p.Arg1288Cys)	GRIN2A (R1288C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364473	NM_001134407.3(GRIN2A):c.82G>A (p.Glu28Lys)	GRIN2A (E28K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363743	NM_001134407.3(GRIN2A):c.3608C>T (p.Thr1203Ile)	GRIN2A (T1203I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361973	NM_001134407.3(GRIN2A):c.1582T>A (p.Phe528Ile)	GRIN2A (F528I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361176	NM_001134407.3(GRIN2A):c.1574C>T (p.Ser525Phe)	GRIN2A (S525F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360341	NM_001134407.3(GRIN2A):c.1828G>C (p.Gly610Arg)	GRIN2A (G610R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359474	NM_001134407.3(GRIN2A):c.1222A>G (p.Ile408Val)	GRIN2A (I408V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359055	NM_001134407.3(GRIN2A):c.2251G>T (p.Gly751Trp)	GRIN2A (G751W)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 3345495	NM_001134407.3(GRIN2A):c.1375T>A (p.Phe459Ile)	GRIN2A (F459I)	Single nucleotide variant (missense variant)	GRIN2A-related disorder	GUncertain significance
Select item 3343853	NM_001134407.3(GRIN2A):c.2692C>T (p.Leu898Phe)	GRIN2A (L898F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342562	NM_001134407.3(GRIN2A):c.742_748del (p.Leu248fs)	GRIN2A (L248fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3342548	NM_001134407.3(GRIN2A):c.2723C>A (p.Ser908Tyr)	GRIN2A (S908Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342151	NM_001134407.3(GRIN2A):c.724G>A (p.Glu242Lys)	GRIN2A (E242K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340797	NM_001134407.3(GRIN2A):c.3286A>G (p.Lys1096Glu)	GRIN2A (K1096E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337157	NM_001134407.3(GRIN2A):c.1492G>C (p.Gly498Arg)	GRIN2A (G498R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337156	NM_001134407.3(GRIN2A):c.414+1G>A	GRIN2A	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3336316	NM_001134407.3(GRIN2A):c.3312C>T (p.Thr1104=)	GRIN2A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3336124	NM_001134407.3(GRIN2A):c.604A>C (p.Asn202His)	GRIN2A (N202H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282764	NM_001134407.3(GRIN2A):c.3627G>T (p.Gln1209His)	GRIN2A (Q1209H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257455	NM_001134407.3(GRIN2A):c.131A>T (p.His44Leu)	GRIN2A (H44L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253266	NM_001134407.3(GRIN2A):c.880dup (p.Asp294fs)	GRIN2A (D294fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3252184	NM_001134407.3(GRIN2A):c.584T>C (p.Phe195Ser)	GRIN2A (F195S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252143	NM_001134407.3(GRIN2A):c.1283C>T (p.Thr428Met)	GRIN2A (T428M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251056	NM_001134407.3(GRIN2A):c.1769A>G (p.Lys590Arg)	GRIN2A (K590R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250848	NM_001134407.3(GRIN2A):c.3735C>T (p.Leu1245=)	GRIN2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250485	NM_001134407.3(GRIN2A):c.2208_2229del (p.Asn736fs)	GRIN2A (N736fs)	Deletion (frameshift variant)	Seizure	GPathogenic
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)	not provided +1 more	GConflicting classifications of pathogenicity
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 (missense 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

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