GRIK5[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60102	GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1	ATP1A3, CEACAM1 +95 more	Copy number loss	See cases	GPathogenic
Select item 1064657	NC_000019.10:g.41952441_42266625del	ATP1A3, DEDD2 +42 more	Deletion	Syndromic craniosynostosis	GPathogenic
Select item 1064658	NC_000019.10:g.41983952_42247520del	ATP1A3, DEDD2 +33 more	Deletion	Syndromic intellectual disability	GPathogenic
Select item 1064661	GRCh38/hg38 19q13.2(chr19:41987984-42252574)x1	ATP1A3, DEDD2 +34 more	Copy number loss	Syndromic intellectual disability	GPathogenic
Select item 3102454	NM_002088.5(GRIK5):c.2934G>T (p.Glu978Asp)	GRIK5 (E978D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102453	NM_002088.5(GRIK5):c.2921G>A (p.Arg974Gln)	GRIK5 (R974Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334173	NM_002088.5(GRIK5):c.2830G>A (p.Ala944Thr)	GRIK5 (A944T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264222	NM_002088.5(GRIK5):c.2825T>G (p.Leu942Arg)	GRIK5 (L942R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264221	NM_002088.5(GRIK5):c.2816T>G (p.Ile939Ser)	GRIK5 (I939S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102452	NM_002088.5(GRIK5):c.2809C>G (p.Arg937Gly)	GRIK5 (R937G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362824	NM_002088.5(GRIK5):c.2777C>A (p.Pro926His)	GRIK5 (P926H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622038	NM_002088.5(GRIK5):c.2770C>T (p.Pro924Ser)	GRIK5 (P924S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649936	NM_002088.5(GRIK5):c.2706G>T (p.Ala902=)	GRIK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610643	NM_002088.5(GRIK5):c.2588G>C (p.Arg863Pro)	GRIK5 (R863P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489530	NM_002088.5(GRIK5):c.2565C>G (p.Cys855Trp)	GRIK5 (C855W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621711	NM_002088.5(GRIK5):c.2521G>C (p.Val841Leu)	GRIK5 (V841L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649937	NM_002088.5(GRIK5):c.2514+908G>A	GRIK5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3047466	NM_002088.5(GRIK5):c.2514+884C>G	GRIK5	Single nucleotide variant (synonymous variant +1 more)	GRIK5-related disorder	GLikely benign
Select item 779044	NM_002088.5(GRIK5):c.2495G>T (p.Arg832Met)	GRIK5 (R832M)	Single nucleotide variant (missense variant)	GRIK5-related disorder +1 more	GBenign
Select item 2631775	NM_002088.5(GRIK5):c.2359C>T (p.Arg787Trp)	GRIK5 (R787W)	Single nucleotide variant (missense variant)	GRIK5-related disorder	GUncertain significance
Select item 3102451	NM_002088.5(GRIK5):c.2354G>A (p.Gly785Glu)	GRIK5 (G785E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397053	NM_002088.5(GRIK5):c.2353G>C (p.Gly785Arg)	GRIK5 (G785R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358014	NM_002088.5(GRIK5):c.2296A>G (p.Ile766Val)	GRIK5 (I766V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042573	NM_002088.5(GRIK5):c.2263+9C>T	GRIK5	Single nucleotide variant (intron variant)	GRIK5-related disorder	GLikely benign
Select item 2346725	NM_002088.5(GRIK5):c.2240G>A (p.Gly747Asp)	GRIK5 (G747D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604842	NM_002088.5(GRIK5):c.2134G>A (p.Val712Ile)	GRIK5 (V712I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775414	NM_002088.5(GRIK5):c.2076C>T (p.Tyr692=)	GRIK5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3042379	NM_002088.5(GRIK5):c.2010C>T (p.His670=)	GRIK5	Single nucleotide variant (synonymous variant)	GRIK5-related disorder	GLikely benign
Select item 2317004	NM_002088.5(GRIK5):c.1837C>G (p.Arg613Gly)	GRIK5 (R613G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598499	NM_002088.5(GRIK5):c.1744C>T (p.Arg582Cys)	GRIK5 (R582C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053754	NM_002088.5(GRIK5):c.1742C>T (p.Ala581Val)	GRIK5 (A581V)	Single nucleotide variant (missense variant)	GRIK5-related disorder	GLikely benign
Select item 1064660	NC_000019.10:g.42032860_42297536del	CIC, DEDD2 +43 more	Deletion	Syndromic craniosynostosis	GPathogenic
Select item 2634879	NM_002088.5(GRIK5):c.1426G>A (p.Glu476Lys)	GRIK5 (E476K)	Single nucleotide variant (missense variant)	GRIK5-related disorder	GUncertain significance
Select item 2318389	NM_002088.5(GRIK5):c.1394G>A (p.Arg465Gln)	GRIK5 (R465Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532604	NM_002088.5(GRIK5):c.1393C>T (p.Arg465Trp)	GRIK5 (R465W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525005	NM_002088.5(GRIK5):c.1376G>A (p.Arg459His)	GRIK5 (R459H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456591	NM_002088.5(GRIK5):c.1220A>G (p.Asn407Ser)	GRIK5 (N407S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710767	NM_002088.5(GRIK5):c.1167G>A (p.Gly389=)	GRIK5	Single nucleotide variant (synonymous variant)	GRIK5-related disorder +1 more	GLikely benign
Select item 2550631	NM_002088.5(GRIK5):c.1162A>G (p.Ile388Val)	GRIK5 (I388V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037704	NM_002088.5(GRIK5):c.1054A>G (p.Met352Val)	GRIK5 (M352V)	Single nucleotide variant (missense variant)	GRIK5-related disorder	GLikely benign
Select item 3046803	NM_002088.5(GRIK5):c.1026C>T (p.His342=)	GRIK5	Single nucleotide variant (synonymous variant)	GRIK5-related disorder	GLikely benign
Select item 2607532	NM_002088.5(GRIK5):c.965A>G (p.Asn322Ser)	GRIK5 (N322S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055643	NM_002088.5(GRIK5):c.904-5C>T	GRIK5	Single nucleotide variant (intron variant)	GRIK5-related disorder	GBenign
Select item 3102458	NM_002088.5(GRIK5):c.881C>G (p.Ala294Gly)	GRIK5 (A294G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102457	NM_002088.5(GRIK5):c.814A>G (p.Thr272Ala)	GRIK5 (T272A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035543	NM_002088.5(GRIK5):c.782C>T (p.Ser261Phe)	GRIK5 (S261F)	Single nucleotide variant (missense variant)	GRIK5-related disorder	GLikely benign
Select item 3041333	NM_002088.5(GRIK5):c.757C>T (p.His253Tyr)	GRIK5 (H253Y)	Single nucleotide variant (missense variant)	GRIK5-related disorder	GUncertain significance
Select item 2225406	NM_002088.5(GRIK5):c.692C>T (p.Ser231Leu)	GRIK5 (S231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102456	NM_002088.5(GRIK5):c.679C>A (p.Leu227Ile)	GRIK5 (L227I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043080	NM_002088.5(GRIK5):c.657C>T (p.Asn219=)	GRIK5	Single nucleotide variant (synonymous variant)	GRIK5-related disorder	GLikely benign
Select item 2332497	NM_002088.5(GRIK5):c.620G>A (p.Arg207His)	GRIK5 (R207H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522831	NM_002088.5(GRIK5):c.590G>A (p.Arg197Gln)	GRIK5 (R197Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403162	NM_002088.5(GRIK5):c.433G>A (p.Val145Ile)	GRIK5 (V145I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649938	NM_002088.5(GRIK5):c.432C>T (p.Asp144=)	GRIK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2245174	NM_002088.5(GRIK5):c.401C>T (p.Ala134Val)	GRIK5 (A134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364220	NM_002088.5(GRIK5):c.400G>A (p.Ala134Thr)	GRIK5 (A134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494974	NM_002088.5(GRIK5):c.376C>A (p.Pro126Thr)	GRIK5 (P126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052340	NM_002088.5(GRIK5):c.372G>A (p.Glu124=)	GRIK5	Single nucleotide variant (synonymous variant)	GRIK5-related disorder	GLikely benign
Select item 3102455	NM_002088.5(GRIK5):c.352A>G (p.Ile118Val)	GRIK5 (I118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629499	NM_002088.5(GRIK5):c.316G>T (p.Val106Leu)	GRIK5 (V106L)	Single nucleotide variant (missense variant)	GRIK5-related disorder	GUncertain significance
Select item 2300386	NM_002088.5(GRIK5):c.259C>G (p.Pro87Ala)	GRIK5 (P87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234466	NM_002088.5(GRIK5):c.246G>C (p.Met82Ile)	GRIK5 (M82I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253843	NM_002088.5(GRIK5):c.236C>T (p.Thr79Met)	GRIK5 (T79M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229505	NM_002088.5(GRIK5):c.229G>A (p.Glu77Lys)	GRIK5 (E77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322791	NM_002088.5(GRIK5):c.205G>C (p.Glu69Gln)	GRIK5 (E69Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102450	NM_002088.5(GRIK5):c.166G>A (p.Glu56Lys)	GRIK5 (E56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305153	NM_002088.5(GRIK5):c.160A>G (p.Ile54Val)	GRIK5 (I54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102449	NM_002088.5(GRIK5):c.155A>G (p.Asn52Ser)	GRIK5 (N52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599568	NM_002088.5(GRIK5):c.115G>A (p.Gly39Ser)	GRIK5 (G39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371881	NM_002088.5(GRIK5):c.113G>A (p.Arg38His)	GRIK5 (R38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	Diamond-Blackfan anemia +3 more	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 77