ClinVar for Gene (Select 2898) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370537	NM_021956.5(GRIK2):c.1226G>C (p.Ser409Thr)	GRIK2 (S409T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369425	NM_021956.5(GRIK2):c.2449G>C (p.Val817Leu)	GRIK2 (V817L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368636	NM_021956.5(GRIK2):c.1784G>T (p.Cys595Phe)	GRIK2 (C595F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365235	NM_021956.5(GRIK2):c.1523A>G (p.His508Arg)	GRIK2 (H508R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364735	NM_021956.5(GRIK2):c.2449G>A (p.Val817Ile)	GRIK2 (V817I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364586	NM_021956.5(GRIK2):c.2565G>T (p.Arg855Ser)	GRIK2 (R855S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3363681	NM_021956.5(GRIK2):c.2629C>A (p.His877Asn)	GRIK2 (H877N)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3363144	NM_021956.5(GRIK2):c.1330G>C (p.Val444Leu)	GRIK2 (V444L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures	GUncertain significance
Select item 3361765	NM_021956.5(GRIK2):c.557A>C (p.Gln186Pro)	GRIK2 (Q186P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361253	NM_021956.5(GRIK2):c.1196T>G (p.Leu399Arg)	GRIK2 (L399R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360736	NM_021956.5(GRIK2):c.2633A>T (p.Lys878Met)	GRIK2 (K878M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3357112	NM_021956.5(GRIK2):c.2668G>A (p.Val890Ile)	GRIK2 (V890I)	Single nucleotide variant (3 prime UTR variant +1 more)	GRIK2-related disorder	GUncertain significance
Select item 3354965	NM_021956.5(GRIK2):c.2132G>A (p.Ser711Asn)	GRIK2 (S711N)	Single nucleotide variant (missense variant)	GRIK2-related disorder	GUncertain significance
Select item 3352351	NM_021956.5(GRIK2):c.1062C>T (p.Arg354=)	GRIK2	Single nucleotide variant (synonymous variant)	GRIK2-related disorder	GLikely benign
Select item 3346438	NM_021956.5(GRIK2):c.239C>T (p.Thr80Ile)	GRIK2 (T80I)	Single nucleotide variant (missense variant)	GRIK2-related disorder	GUncertain significance
Select item 3345379	NM_021956.5(GRIK2):c.2394G>T (p.Trp798Cys)	GRIK2 (W798C)	Single nucleotide variant (missense variant)	GRIK2-related disorder	GUncertain significance
Select item 3344774	NM_021956.5(GRIK2):c.1505T>C (p.Val502Ala)	GRIK2 (V502A)	Single nucleotide variant (missense variant)	GRIK2-related disorder	GUncertain significance
Select item 3340310	NM_021956.5(GRIK2):c.1478A>G (p.Asp493Gly)	GRIK2 (D493G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3282743	NM_021956.5(GRIK2):c.32C>T (p.Pro11Leu)	GRIK2 (P11L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282742	NM_021956.5(GRIK2):c.65G>A (p.Cys22Tyr)	GRIK2 (C22Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282741	NM_021956.5(GRIK2):c.1438A>G (p.Ile480Val)	GRIK2 (I480V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282740	NM_021956.5(GRIK2):c.2375A>C (p.His792Pro)	GRIK2 (H792P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282738	NM_021956.5(GRIK2):c.2692G>A (p.Asp898Asn)	GRIK2 (D898N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3282737	NM_021956.5(GRIK2):c.119G>T (p.Gly40Val)	GRIK2 (G40V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282736	NM_021956.5(GRIK2):c.2650A>G (p.Ile884Val)	GRIK2 (I884V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3256969	NM_021956.5(GRIK2):c.687T>C (p.Asp229=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3253029	NM_021956.5(GRIK2):c.1537_1538delinsAG (p.Ala513Arg)	GRIK2 (A513R)	Indel (missense variant)	not provided	GUncertain significance
Select item 3253019	NM_021956.5(GRIK2):c.2522A>T (p.Glu841Val)	GRIK2 (E841V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252601	NM_021956.5(GRIK2):c.2576G>T (p.Ser859Ile)	GRIK2 (S859I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3237541	NM_021956.5(GRIK2):c.408C>A (p.His136Gln)	GRIK2 (H136Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures	GUncertain significance
Select item 3235860	NM_021956.5(GRIK2):c.40A>G (p.Arg14Gly)	GRIK2 (R14G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3102413	NM_021956.5(GRIK2):c.523G>A (p.Val175Met)	GRIK2 (V175M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102411	NM_021956.5(GRIK2):c.1000G>A (p.Val334Ile)	GRIK2 (V334I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3064934	NM_021956.5(GRIK2):c.1204-1G>T	GRIK2	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures	GLikely pathogenic
Select item 3064164	NM_021956.5(GRIK2):c.2179C>T (p.Arg727Ter)	GRIK2 (R727*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures	GUncertain significance
Select item 3062939	GRCh37/hg19 6q15-16.3(chr6:91677067-101879124)x3	ASCC3, CCNC +20 more	Copy number gain	not specified	GUncertain significance
Select item 3062913	GRCh37/hg19 6q16.2-16.3(chr6:100278355-104153505)x3	ASCC3, GRIK2 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3054278	NM_021956.5(GRIK2):c.2505T>A (p.Val835=)	GRIK2	Single nucleotide variant (synonymous variant)	GRIK2-related disorder	GLikely benign
Select item 3050706	NM_021956.5(GRIK2):c.1204-3T>C	GRIK2	Single nucleotide variant (intron variant)	GRIK2-related disorder	GLikely benign
Select item 3030146	NM_021956.5(GRIK2):c.978T>A (p.Ala326=)	GRIK2	Single nucleotide variant (synonymous variant)	GRIK2-related disorder	GLikely benign
Select item 3025612	NM_021956.5(GRIK2):c.1880T>G (p.Met627Arg)	GRIK2 (M627R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025342	NM_021956.5(GRIK2):c.968T>C (p.Met323Thr)	GRIK2 (M323T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689161	NM_021956.5(GRIK2):c.2581A>G (p.Met861Val)	GRIK2 (M861V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 2684450	GRCh37/hg19 6q16.3(chr6:101599233-102012809)x3	GRIK2	Copy number gain	not provided	GUncertain significance
Select item 2681306	NM_021956.5(GRIK2):c.1841T>A (p.Phe614Tyr)	GRIK2 (F614Y)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2663002	NM_021956.5(GRIK2):c.2492T>C (p.Leu831Ser)	GRIK2 (L831S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662611	NM_021956.5(GRIK2):c.1559C>T (p.Thr520Ile)	GRIK2 (T520I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662483	NM_021956.5(GRIK2):c.1595C>T (p.Pro532Leu)	GRIK2 (P532L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656799	NM_021956.5(GRIK2):c.2700G>T (p.Arg900Ser)	GRIK2 (R900S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2656798	NM_021956.5(GRIK2):c.2604C>T (p.Ser868=)	GRIK2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2656797	NM_021956.5(GRIK2):c.2563-2515C>T	GRIK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656796	NM_021956.5(GRIK2):c.2563-2545C>A	GRIK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656795	NM_021956.5(GRIK2):c.2085+36781A>C	GRIK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2656794	NM_021956.5(GRIK2):c.1280C>G (p.Ser427Cys)	GRIK2 (S427C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656793	NM_021956.5(GRIK2):c.1212G>A (p.Thr404=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656792	NM_021956.5(GRIK2):c.1192G>A (p.Gly398Ser)	GRIK2 (G398S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656791	NM_021956.5(GRIK2):c.1131C>T (p.Phe377=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656790	NM_021956.5(GRIK2):c.1119C>T (p.Gly373=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656789	NM_021956.5(GRIK2):c.900A>G (p.Arg300=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656788	NM_021956.5(GRIK2):c.825C>T (p.Asn275=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656787	NM_021956.5(GRIK2):c.348C>T (p.Asn116=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656786	NM_021956.5(GRIK2):c.322G>T (p.Gly108Trp)	GRIK2 (G108W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635501	NM_021956.5(GRIK2):c.1735T>C (p.Phe579Leu)	GRIK2 (F579L)	Single nucleotide variant (missense variant)	GRIK2-related disorder	GUncertain significance
Select item 2631016	NM_021956.5(GRIK2):c.1055C>G (p.Pro352Arg)	GRIK2 (P352R)	Single nucleotide variant (missense variant)	GRIK2-related disorder	GUncertain significance
Select item 2629893	NM_021956.5(GRIK2):c.964C>G (p.Leu322Val)	GRIK2 (L322V)	Single nucleotide variant (missense variant)	GRIK2-related disorder	GUncertain significance
Select item 2622688	NM_021956.5(GRIK2):c.637C>T (p.Pro213Ser)	GRIK2 (P213S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613455	NM_021956.5(GRIK2):c.1060C>T (p.Arg354Cys)	GRIK2 (R354C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612236	NM_021956.5(GRIK2):c.1114A>G (p.Thr372Ala)	GRIK2 (T372A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611140	NM_021956.5(GRIK2):c.281A>G (p.Lys94Arg)	GRIK2 (K94R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601486	NM_021956.5(GRIK2):c.923A>C (p.Asp308Ala)	GRIK2 (D308A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582447	NM_021956.5(GRIK2):c.355C>T (p.Gln119Ter)	GRIK2 (Q119*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures	GLikely pathogenic
Select item 2580385	NM_021956.5(GRIK2):c.2699G>T (p.Arg900Met)	GRIK2 (R900M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2578121	NM_021956.5(GRIK2):c.688T>C (p.Cys230Arg)	GRIK2 (C230R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577144	NC_000006.11:g.(102124680_102130427)_(102134229_102247522)del	GRIK2	Deletion	not specified	GUncertain significance
Select item 2576572	NM_021956.5(GRIK2):c.1930A>T (p.Thr644Ser)	GRIK2 (T644S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures	GUncertain significance
Select item 2572353	NM_021956.5(GRIK2):c.55C>A (p.Leu19Ile)	GRIK2 (L19I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571258	NM_021956.5(GRIK2):c.2145A>C (p.Ser715=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2571257	NM_021956.5(GRIK2):c.2132G>C (p.Ser711Thr)	GRIK2 (S711T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2547425	NM_021956.5(GRIK2):c.676G>A (p.Val226Ile)	GRIK2 (V226I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514154	NM_021956.5(GRIK2):c.985G>A (p.Val329Met)	GRIK2 (V329M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2503314	NM_021956.5(GRIK2):c.283+1G>C	GRIK2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2500408	NM_021956.5(GRIK2):c.860C>A (p.Thr287Asn)	GRIK2 (T287N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499889	NM_021956.5(GRIK2):c.449A>T (p.Tyr150Phe)	GRIK2 (Y150F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499244	NM_021956.5(GRIK2):c.1625A>C (p.Tyr542Ser)	GRIK2 (Y542S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2484931	NM_021956.5(GRIK2):c.2059G>A (p.Asp687Asn)	GRIK2 (D687N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478495	NM_021956.5(GRIK2):c.974A>G (p.Asp325Gly)	GRIK2 (D325G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473645	NM_021956.5(GRIK2):c.2548G>A (p.Ala850Thr)	GRIK2 (A850T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467171	NM_021956.5(GRIK2):c.637C>A (p.Pro213Thr)	GRIK2 (P213T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2446080	NM_021956.5(GRIK2):c.470G>T (p.Ser157Ile)	GRIK2 (S157I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441774	NM_021956.5(GRIK2):c.1095+2T>A	GRIK2	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 6 +1 more	GUncertain significance
Select item 2432282	NM_021956.5(GRIK2):c.1285T>A (p.Ser429Thr)	GRIK2 (S429T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432281	NM_021956.5(GRIK2):c.261T>C (p.Asp87=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2430942	NM_021956.5(GRIK2):c.696T>G (p.His232Gln)	GRIK2 (H232Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430303	NM_021956.5(GRIK2):c.1117G>A (p.Gly373Ser)	GRIK2 (G373S)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2430089	NM_021956.5(GRIK2):c.215C>A (p.Pro72His)	GRIK2 (P72H)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 2429651	NM_021956.5(GRIK2):c.2532C>G (p.Tyr844Ter)	GRIK2 (Y844*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2395799	NM_021956.5(GRIK2):c.1205T>C (p.Ile402Thr)	GRIK2 (I402T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365059	NM_021956.5(GRIK2):c.1654G>A (p.Val552Ile)	GRIK2 (V552I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359956	NM_021956.5(GRIK2):c.809G>A (p.Arg270Gln)	GRIK2 (R270Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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