GRIK4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 145002	GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1	ARHGEF12, BLID +184 more	Copy number loss	See cases	GPathogenic
Select item 154156	GRCh38/hg38 11q23.3(chr11:120453168-121182251)x3	ARHGEF12, GRIK4 +24 more	Copy number gain	See cases	GUncertain significance
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 732535	NM_014619.5(GRIK4):c.15G>T (p.Ser5=)	GRIK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2591464	NM_014619.5(GRIK4):c.17C>T (p.Ala6Val)	GRIK4 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338246	NM_014619.5(GRIK4):c.20C>T (p.Pro7Leu)	GRIK4 (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246982	NM_014619.5(GRIK4):c.38C>T (p.Ala13Val)	GRIK4 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102447	NM_014619.5(GRIK4):c.46G>A (p.Val16Met)	GRIK4 (V16M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458540	NM_014619.5(GRIK4):c.55G>A (p.Ala19Thr)	GRIK4 (A19T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784221	NM_014619.5(GRIK4):c.69C>G (p.His23Gln)	GRIK4 (H23Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 157228	Single allele	GRIK4, LOC130006923	Deletion	Gestational diabetes mellitus uncontrolled +1 more	Gnot provided
Select item 225967	NM_014619.5(GRIK4):c.83-10039T>C	GRIK4	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3102431	NM_014619.5(GRIK4):c.124C>T (p.Arg42Trp)	GRIK4 (R42W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 762857	NM_014619.5(GRIK4):c.132C>T (p.Ser44=)	GRIK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3102435	NM_014619.5(GRIK4):c.163G>A (p.Ala55Thr)	GRIK4 (A55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542678	NM_014619.5(GRIK4):c.206T>G (p.Phe69Cys)	GRIK4 (F69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723130	NM_014619.5(GRIK4):c.228G>A (p.Glu76=)	GRIK4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716428	NM_014619.5(GRIK4):c.285C>G (p.Leu95=)	GRIK4, LOC105369532	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 771750	NM_014619.5(GRIK4):c.500C>G (p.Ala167Gly)	GRIK4 (A167G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2273230	NM_014619.5(GRIK4):c.506C>A (p.Ala169Glu)	GRIK4 (A169E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484895	NM_014619.5(GRIK4):c.548T>G (p.Leu183Arg)	GRIK4 (L183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264609	NM_014619.5(GRIK4):c.602C>T (p.Thr201Ile)	GRIK4 (T201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363271	NM_014619.5(GRIK4):c.622C>T (p.Arg208Trp)	GRIK4 (R208W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720353	NM_014619.5(GRIK4):c.636C>T (p.Thr212=)	GRIK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786216	NM_014619.5(GRIK4):c.654C>T (p.His218=)	GRIK4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720354	NM_014619.5(GRIK4):c.691-9G>A	GRIK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2299752	NM_014619.5(GRIK4):c.784C>G (p.Arg262Gly)	GRIK4 (R262G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768491	NM_014619.5(GRIK4):c.793A>G (p.Ile265Val)	GRIK4 (I265V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2529693	NM_014619.5(GRIK4):c.858C>G (p.Asn286Lys)	GRIK4 (N286K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102448	NM_014619.5(GRIK4):c.869A>G (p.Gln290Arg)	GRIK4 (Q290R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287613	NM_014619.5(GRIK4):c.901C>T (p.Pro301Ser)	GRIK4 (P301S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731411	NM_014619.5(GRIK4):c.915G>A (p.Ser305=)	GRIK4, LOC101929227	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2302936	NM_014619.5(GRIK4):c.934G>T (p.Val312Phe)	GRIK4, LOC101929227 +1 more (V312F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 765066	NM_014619.5(GRIK4):c.984C>T (p.Ile328=)	GRIK4, LOC101929227 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2398617	NM_014619.5(GRIK4):c.985G>A (p.Gly329Ser)	GRIK4, LOC101929227 +1 more (G329S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387313	NM_014619.5(GRIK4):c.988G>A (p.Val330Met)	GRIK4, LOC101929227 +1 more (V330M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222253	NM_014619.5(GRIK4):c.1013C>G (p.Ala338Gly)	GRIK4, LOC101929227 +1 more (A338G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102430	NM_014619.5(GRIK4):c.1018A>G (p.Ile340Val)	GRIK4, LOC101929227 +1 more (I340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725787	NM_014619.5(GRIK4):c.1029C>T (p.His343=)	LOC126861364, GRIK4 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2383277	NM_014619.5(GRIK4):c.1054C>T (p.Arg352Cys)	GRIK4, LOC101929227 +1 more (R352C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 806750	NM_014619.5(GRIK4):c.1055G>T (p.Arg352Leu)	GRIK4, LOC101929227 +1 more (R352L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 718777	NM_014619.5(GRIK4):c.1122C>T (p.Tyr374=)	LOC101929227, LOC126861364 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2211458	NM_014619.5(GRIK4):c.1157T>C (p.Phe386Ser)	GRIK4, LOC101929227 +1 more (F386S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400399	NM_014619.5(GRIK4):c.1180G>A (p.Val394Met)	GRIK4 (V394M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516217	NM_014619.5(GRIK4):c.1198A>G (p.Met400Val)	GRIK4 (M400V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723044	NM_014619.5(GRIK4):c.1257C>T (p.Val419=)	GRIK4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3282753	NM_014619.5(GRIK4):c.1397G>T (p.Arg466Leu)	GRIK4 (R466L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102432	NM_014619.5(GRIK4):c.1471G>A (p.Ala491Thr)	GRIK4 (A491T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395981	NM_014619.5(GRIK4):c.1541C>T (p.Ser514Phe)	GRIK4 (S514F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102433	NM_014619.5(GRIK4):c.1556C>T (p.Thr519Ile)	GRIK4 (T519I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102434	NM_014619.5(GRIK4):c.1579C>T (p.Arg527Cys)	GRIK4 (R527C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773017	NM_014619.5(GRIK4):c.1582G>A (p.Val528Ile)	GRIK4 (V528I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2237404	NM_014619.5(GRIK4):c.1654C>T (p.Leu552Phe)	GRIK4, LOC101929208 (L552F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282752	NM_014619.5(GRIK4):c.1699C>T (p.Arg567Trp)	GRIK4, LOC101929208 (R567W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642467	NM_014619.5(GRIK4):c.1714G>A (p.Glu572Lys)	GRIK4, LOC101929208 (E572K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1239912	NM_014619.5(GRIK4):c.1821A>G (p.Gln607=)	GRIK4, LOC101929208	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3102437	NM_014619.5(GRIK4):c.1823G>T (p.Gly608Val)	GRIK4, LOC101929208 (G608V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 224137	NM_014619.5(GRIK4):c.1856G>A (p.Arg619His)	GRIK4, LOC101929208 (R619H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2343959	NM_014619.5(GRIK4):c.1865G>A (p.Ser622Asn)	GRIK4, LOC101929208 (S622N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102438	NM_014619.5(GRIK4):c.1910C>T (p.Thr637Met)	GRIK4 (T637M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102439	NM_014619.5(GRIK4):c.1936G>A (p.Val646Met)	GRIK4 (V646M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102440	NM_014619.5(GRIK4):c.1990G>A (p.Ala664Thr)	GRIK4 (A664T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400455	NM_014619.5(GRIK4):c.2048G>A (p.Arg683His)	GRIK4 (R683H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546035	NM_014619.5(GRIK4):c.2150A>G (p.Asn717Ser)	GRIK4 (N717S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744593	NM_014619.5(GRIK4):c.2266+7G>A	GRIK4 (R758Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 740820	NM_014619.5(GRIK4):c.2267-4G>A	GRIK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3102441	NM_014619.5(GRIK4):c.2299A>G (p.Ile767Val)	GRIK4 (I767V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102443	NM_014619.5(GRIK4):c.2372A>G (p.Lys791Arg)	GRIK4 (K791R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268958	NM_014619.5(GRIK4):c.2452G>A (p.Val818Met)	GRIK4 (V818M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779378	NM_014619.5(GRIK4):c.2471T>C (p.Met824Thr)	GRIK4 (M824T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3102444	NM_014619.5(GRIK4):c.2536G>A (p.Val846Met)	GRIK4 (V846M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223455	NM_014619.5(GRIK4):c.2582C>T (p.Pro861Leu)	GRIK4 (P861L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224244	NM_014619.5(GRIK4):c.2596G>A (p.Ala866Thr)	GRIK4 (A866T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 793568	NM_014619.5(GRIK4):c.2598C>T (p.Ala866=)	GRIK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2340808	NM_014619.5(GRIK4):c.2615G>A (p.Arg872Gln)	GRIK4 (R872Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102445	NM_014619.5(GRIK4):c.2667C>G (p.Asn889Lys)	GRIK4, LOC130006926 (N889K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747765	NM_014619.5(GRIK4):c.2679C>T (p.Cys893=)	GRIK4, LOC130006926	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2268959	NM_014619.5(GRIK4):c.2684C>A (p.Ala895Glu)	GRIK4, LOC130006926 (A895E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282751	NM_014619.5(GRIK4):c.2689G>A (p.Glu897Lys)	GRIK4, LOC130006926 (E897K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 224138	NM_014619.5(GRIK4):c.2713_2727delinsGCT (p.Leu905_Glu908del)	GRIK4, LOC130006926	Indel (inframe_deletion)	not provided	GUncertain significance
Select item 3102446	NM_014619.5(GRIK4):c.2777G>T (p.Arg926Leu)	GRIK4 (R926L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556605	NM_014619.5(GRIK4):c.2801G>T (p.Arg934Leu)	GRIK4 (R934L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 806751	NM_014619.5(GRIK4):c.2809C>T (p.Pro937Ser)	GRIK4 (P937S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic

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