GNL2[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2376105	NM_013285.3(GNL2):c.2170C>T (p.Arg724Cys)	GNL2 (R541C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226114	NM_013285.3(GNL2):c.2138A>C (p.Lys713Thr)	GNL2 (K713T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309722	NM_013285.3(GNL2):c.2135A>C (p.Lys712Thr)	GNL2 (K712T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532097	NM_013285.3(GNL2):c.2110G>C (p.Val704Leu)	GNL2 (V704L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100642	NM_013285.3(GNL2):c.2096A>G (p.Tyr699Cys)	GNL2 (Y767C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216904	NM_013285.3(GNL2):c.2090G>A (p.Arg697His)	GNL2 (R514H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281795	NM_013285.3(GNL2):c.2089C>T (p.Arg697Cys)	GNL2 (R514C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594981	NM_013285.3(GNL2):c.2069G>A (p.Arg690Gln)	GNL2 (R507Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3100641	NM_013285.3(GNL2):c.2068C>T (p.Arg690Trp)	GNL2 (R690W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381244	NM_013285.3(GNL2):c.2051G>A (p.Arg684Gln)	GNL2 (R501Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100640	NM_013285.3(GNL2):c.2009C>T (p.Ser670Leu)	GNL2 (S487L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281793	NM_013285.3(GNL2):c.1894A>T (p.Ile632Leu)	GNL2, LOC126805705 (I449L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283033	NM_013285.3(GNL2):c.1792A>G (p.Lys598Glu)	GNL2, LOC126805705 (K415E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232265	NM_013285.3(GNL2):c.1732G>A (p.Glu578Lys)	GNL2, LOC126805705 (E578K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100639	NM_013285.3(GNL2):c.1730C>T (p.Ala577Val)	GNL2, LOC126805705 (A577V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3281794	NM_013285.3(GNL2):c.1570C>G (p.Gln524Glu)	GNL2, LOC126805705 (Q341E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100638	NM_013285.3(GNL2):c.1564A>T (p.Met522Leu)	GNL2, LOC126805705 (M339L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281800	NM_013285.3(GNL2):c.1556A>T (p.Asn519Ile)	GNL2, LOC126805705 (N587I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 818173	NM_013285.3(GNL2):c.1480G>A (p.Val494Ile)	GNL2, LOC126805705 (V494I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100635	NM_013285.3(GNL2):c.1459C>G (p.Gln487Glu)	GNL2, LOC126805705 (Q487E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100634	NM_013285.3(GNL2):c.1456G>A (p.Ala486Thr)	GNL2, LOC126805705 (A554T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 818172	NM_013285.3(GNL2):c.1391A>G (p.Asn464Ser)	GNL2 (N281S +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2236211	NM_013285.3(GNL2):c.1363C>T (p.Arg455Trp)	GNL2 (R272W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281799	NM_013285.3(GNL2):c.1358G>A (p.Arg453Lys)	GNL2 (R521K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358579	NM_013285.3(GNL2):c.1315G>A (p.Asp439Asn)	GNL2 (D256N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100633	NM_013285.3(GNL2):c.1282C>T (p.Arg428Trp)	GNL2 (R245W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512475	NM_013285.3(GNL2):c.1199G>A (p.Arg400Gln)	GNL2 (R217Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100632	NM_013285.3(GNL2):c.1159A>G (p.Ile387Val)	GNL2 (I387V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624058	NM_013285.3(GNL2):c.1105T>C (p.Ser369Pro)	GNL2 (S437P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100631	NM_013285.3(GNL2):c.1100A>G (p.Tyr367Cys)	GNL2 (Y367C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100630	NM_013285.3(GNL2):c.1067G>A (p.Arg356Gln)	GNL2 (R424Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293338	NM_013285.3(GNL2):c.1067G>C (p.Arg356Pro)	GNL2 (R173P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281792	NM_013285.3(GNL2):c.1049A>G (p.Tyr350Cys)	GNL2 (Y418C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236170	NM_013285.3(GNL2):c.1024G>T (p.Ala342Ser)	GNL2, LOC126805706 (A410S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287968	NM_013285.3(GNL2):c.992G>A (p.Arg331His)	GNL2, LOC126805706 (R148H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327779	NM_013285.3(GNL2):c.983A>C (p.Asn328Thr)	GNL2, LOC126805706 (N328T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100647	NM_013285.3(GNL2):c.976G>A (p.Val326Met)	GNL2, LOC126805706 (V394M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100646	NM_013285.3(GNL2):c.933C>G (p.Ile311Met)	GNL2, LOC126805706 (I311M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281796	NM_013285.3(GNL2):c.800G>A (p.Arg267Gln)	GNL2 (R267Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336906	NM_013285.3(GNL2):c.688A>G (p.Met230Val)	GNL2 (M47V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100645	NM_013285.3(GNL2):c.654T>A (p.Asp218Glu)	GNL2 (D35E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516481	NM_013285.3(GNL2):c.632A>G (p.Tyr211Cys)	GNL2 (Y211C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100644	NM_013285.3(GNL2):c.605A>G (p.Gln202Arg)	GNL2 (Q19R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344920	NM_013285.3(GNL2):c.600G>C (p.Lys200Asn)	GNL2 (K17N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606571	NM_013285.3(GNL2):c.539G>A (p.Arg180His)	GNL2 (R180H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349987	NM_013285.3(GNL2):c.538C>T (p.Arg180Cys)	GNL2 (R180C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266138	NM_013285.3(GNL2):c.492C>G (p.Ile164Met)	GNL2 (I164M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281798	NM_013285.3(GNL2):c.389T>G (p.Leu130Trp)	GNL2 (L130W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100643	NM_013285.3(GNL2):c.371G>A (p.Arg124Gln)	GNL2 (E3K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607159	NM_013285.3(GNL2):c.365A>G (p.His122Arg)	GNL2 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487803	NM_013285.3(GNL2):c.355T>C (p.Ser119Pro)	GNL2 (S119P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291329	NM_013285.3(GNL2):c.287A>C (p.Gln96Pro)	GNL2 (Q96P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510997	NM_013285.3(GNL2):c.254G>A (p.Arg85His)	GNL2 (R85H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238773	NM_013285.3(GNL2):c.176C>T (p.Pro59Leu)	GNL2 (P59L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242790	NM_013285.3(GNL2):c.163A>G (p.Lys55Glu)	GNL2 (K55E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281797	NM_013285.3(GNL2):c.157C>T (p.Arg53Cys)	GNL2 (R53C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100637	NM_013285.3(GNL2):c.150G>A (p.Arg50=)	GNL2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2350676	NM_013285.3(GNL2):c.148A>G (p.Arg50Gly)	GNL2 (R50G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100636	NM_013285.3(GNL2):c.146G>A (p.Arg49His)	GNL2 (R49H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426871	NC_000001.10:g.(?_38003349)_(38273852_?)dup	AIRIM, C1orf122 +8 more	Duplication	not provided	GUncertain significance
Select item 1526926	GRCh37/hg19 1p34.3(chr1:38001813-38043237)	DNALI1, GNL2 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 more	Copy number loss	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 565085	GRCh37/hg19 1p34.3(chr1:38001813-38068791)x1	DNALI1, GNL2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 443349	GRCh37/hg19 1p34.3(chr1:37766562-38727114)x3	AIRIM, C1orf122 +16 more	Copy number gain	See cases	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395479	GRCh37/hg19 1p34.3(chr1:38005705-38077489)x3	DNALI1, GNL2 +2 more	Copy number gain	See cases	GUncertain significance

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Items: 72