GRIK2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	LOC129389591, LOC129389592 +558 more	Copy number loss	See cases	GPathogenic
Select item 58439	GRCh38/hg38 6q16.1-16.3(chr6:97853776-102580597)x1	ASCC3, CCNC +68 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC129997076, LOC129997077 +460 more	Copy number loss	See cases	GPathogenic
Select item 1896567	NM_021956.5(GRIK2):c.14T>C (p.Phe5Ser)	GRIK2 (F5S)	Single nucleotide variant (missense variant)	not provided	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 493440	NM_021956.5(GRIK2):c.100C>T (p.His34Tyr)	GRIK2 (H34Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 762024	NM_021956.5(GRIK2):c.102T>C (p.His34=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 252549	NM_021956.5(GRIK2):c.150G>A (p.Met50Ile)	GRIK2 (M50I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1335639	NM_021956.5(GRIK2):c.205A>G (p.Thr69Ala)	GRIK2 (T69A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures +1 more	GUncertain significance
Select item 734715	NM_021956.5(GRIK2):c.208T>C (p.Leu70=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 435361	NM_021956.5(GRIK2):c.222T>C (p.Thr74=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1800801	NM_021956.5(GRIK2):c.223A>G (p.Thr75Ala)	GRIK2 (T75A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 764057	NM_021956.5(GRIK2):c.225C>A (p.Thr75=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2432281	NM_021956.5(GRIK2):c.261T>C (p.Asp87=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	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 2503314	NM_021956.5(GRIK2):c.283+1G>C	GRIK2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 2656787	NM_021956.5(GRIK2):c.348C>T (p.Asn116=)	GRIK2	Single nucleotide variant (synonymous variant)	GRIK2-related condition +1 more	GLikely benign
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 745712	NM_021956.5(GRIK2):c.417A>T (p.Ser139=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2261419	NM_021956.5(GRIK2):c.461C>T (p.Ser154Phe)	GRIK2 (S154F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 435362	NM_021956.5(GRIK2):c.472C>T (p.Arg158Cys)	GRIK2 (R158C)	Single nucleotide variant (missense variant)	not specified	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 1708421	NM_021956.5(GRIK2):c.541+3A>G	GRIK2	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 1710403	NM_021956.5(GRIK2):c.581G>A (p.Arg194Lys)	GRIK2 (R194K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 189252	NM_021956.5(GRIK2):c.592C>T (p.Arg198Ter)	GRIK2 (R198*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 6	GPathogenic
Select item 731969	NM_021956.5(GRIK2):c.609G>A (p.Gln203=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 435363	NM_021956.5(GRIK2):c.613C>T (p.Pro205Ser)	GRIK2 (P205S)	Single nucleotide variant (missense variant)	not specified +1 more	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 2467171	NM_021956.5(GRIK2):c.637C>A (p.Pro213Thr)	GRIK2 (P213T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1028233	NM_021956.5(GRIK2):c.662G>A (p.Gly221Asp)	GRIK2 (G221D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 6	GUncertain significance
Select item 211105	NM_021956.5(GRIK2):c.672T>C (p.Phe224=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
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 2578121	NM_021956.5(GRIK2):c.688T>C (p.Cys230Arg)	GRIK2 (C230R)	Single nucleotide variant (missense 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 211106	NM_021956.5(GRIK2):c.724-7del	GRIK2	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 764751	NM_021956.5(GRIK2):c.729A>G (p.Leu243=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 637968	NM_021956.5(GRIK2):c.808C>T (p.Arg270Ter)	GRIK2 (R270*)	Single nucleotide variant (nonsense)	Intellectual disability	GLikely pathogenic
Select item 2359956	NM_021956.5(GRIK2):c.809G>A (p.Arg270Gln)	GRIK2 (R270Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656788	NM_021956.5(GRIK2):c.825C>T (p.Asn275=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 435364	NM_021956.5(GRIK2):c.890C>G (p.Ser297Trp)	GRIK2 (S297W)	Single nucleotide variant (missense variant)	GRIK2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2656789	NM_021956.5(GRIK2):c.900A>G (p.Arg300=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1299042	NM_021956.5(GRIK2):c.915G>A (p.Pro305=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1028234	NM_021956.5(GRIK2):c.922G>A (p.Asp308Asn)	GRIK2 (D308N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 6 +1 more	GConflicting classifications of pathogenicity
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 1336607	NM_021956.5(GRIK2):c.924T>C (p.Asp308=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 129177	NM_021956.5(GRIK2):c.939T>C (p.Asp313=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1712583	NM_021956.5(GRIK2):c.951G>A (p.Thr317=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1767453	NM_021956.5(GRIK2):c.957T>C (p.Asp319=)	GRIK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 435365	NM_021956.5(GRIK2):c.963T>C (p.Ala321=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2629893	NM_021956.5(GRIK2):c.964C>G (p.Leu322Val)	GRIK2 (L322V)	Single nucleotide variant (missense variant)	GRIK2-related condition	GUncertain significance
Select item 2309137	NM_021956.5(GRIK2):c.967A>G (p.Met323Val)	GRIK2 (M323V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1033990	NM_021956.5(GRIK2):c.969G>A (p.Met323Ile)	GRIK2 (M323I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 6	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 3030146	NM_021956.5(GRIK2):c.978T>A (p.Ala326=)	GRIK2	Single nucleotide variant (synonymous variant)	GRIK2-related condition	GLikely benign
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 809977	NM_021956.5(GRIK2):c.989T>G (p.Val330Gly)	GRIK2 (V330G)	Single nucleotide variant (missense variant)	not provided	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 1803598	NM_021956.5(GRIK2):c.1007A>C (p.Gln336Pro)	GRIK2 (Q336P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631016	NM_021956.5(GRIK2):c.1055C>G (p.Pro352Arg)	GRIK2 (P352R)	Single nucleotide variant (missense variant)	GRIK2-related condition	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 211102	NM_021956.5(GRIK2):c.1065C>T (p.Phe355=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1033987	NM_021956.5(GRIK2):c.1073G>T (p.Arg358Leu)	GRIK2 (R358L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 6	GUncertain significance
Select item 435372	NM_021956.5(GRIK2):c.1091A>G (p.Lys364Arg)	GRIK2 (K364R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 129169	NM_021956.5(GRIK2):c.1095+7T>C	GRIK2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1878853	NM_021956.5(GRIK2):c.1099C>T (p.His367Tyr)	GRIK2 (H367Y)	Single nucleotide variant (missense variant)	not provided	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 1801113	NM_021956.5(GRIK2):c.1114A>T (p.Thr372Ser)	GRIK2 (T372S)	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 2656790	NM_021956.5(GRIK2):c.1119C>T (p.Gly373=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656791	NM_021956.5(GRIK2):c.1131C>T (p.Phe377=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1033988	NM_021956.5(GRIK2):c.1138A>T (p.Thr380Ser)	GRIK2 (T380S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 6	GUncertain significance
Select item 786095	NM_021956.5(GRIK2):c.1165T>C (p.Leu389=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3050706	NM_021956.5(GRIK2):c.1204-3T>C	GRIK2	Single nucleotide variant (intron variant)	GRIK2-related condition	GLikely benign
Select item 1711914	NM_021956.5(GRIK2):c.1204-3T>G	GRIK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2395799	NM_021956.5(GRIK2):c.1205T>C (p.Ile402Thr)	GRIK2 (I402T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 211103	NM_021956.5(GRIK2):c.1265C>T (p.Ala422Val)	GRIK2 (A422V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435366	NM_021956.5(GRIK2):c.1266G>A (p.Ala422=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 129170	NM_021956.5(GRIK2):c.1281C>G (p.Ser427=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 2323693	NM_021956.5(GRIK2):c.1285T>C (p.Ser429Pro)	GRIK2 (S429P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 435367	NM_021956.5(GRIK2):c.1287C>T (p.Ser429=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2221575	NM_021956.5(GRIK2):c.1318-4T>C	GRIK2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GBenign
Select item 435371	NM_021956.5(GRIK2):c.1360T>C (p.Tyr454His)	GRIK2 (Y454H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2267481	NM_021956.5(GRIK2):c.1415C>T (p.Thr472Ile)	GRIK2 (T472I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 771716	NM_021956.5(GRIK2):c.1525-10C>T	GRIK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 771717	NM_021956.5(GRIK2):c.1525-8G>T	GRIK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 771718	NM_021956.5(GRIK2):c.1525-6C>T	GRIK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 771719	NM_021956.5(GRIK2):c.1525-4A>T	GRIK2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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