"Ambry Genetics"[submitter] AND "GNL2"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2376105	NM_013285.3(GNL2):c.2170C>T (p.Arg724Cys)	GNL2 (R541C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226114	NM_013285.3(GNL2):c.2138A>C (p.Lys713Thr)	GNL2 (K713T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309722	NM_013285.3(GNL2):c.2135A>C (p.Lys712Thr)	GNL2 (K712T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532097	NM_013285.3(GNL2):c.2110G>C (p.Val704Leu)	GNL2 (V704L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216904	NM_013285.3(GNL2):c.2090G>A (p.Arg697His)	GNL2 (R514H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594981	NM_013285.3(GNL2):c.2069G>A (p.Arg690Gln)	GNL2 (R507Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2381244	NM_013285.3(GNL2):c.2051G>A (p.Arg684Gln)	GNL2 (R501Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283033	NM_013285.3(GNL2):c.1792A>G (p.Lys598Glu)	GNL2, LOC126805705 (K415E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232265	NM_013285.3(GNL2):c.1732G>A (p.Glu578Lys)	GNL2, LOC126805705 (E578K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 818173	NM_013285.3(GNL2):c.1480G>A (p.Val494Ile)	GNL2, LOC126805705 (V494I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236211	NM_013285.3(GNL2):c.1363C>T (p.Arg455Trp)	GNL2 (R272W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358579	NM_013285.3(GNL2):c.1315G>A (p.Asp439Asn)	GNL2 (D256N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512475	NM_013285.3(GNL2):c.1199G>A (p.Arg400Gln)	GNL2 (R217Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624058	NM_013285.3(GNL2):c.1105T>C (p.Ser369Pro)	GNL2 (S437P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293338	NM_013285.3(GNL2):c.1067G>C (p.Arg356Pro)	GNL2 (R173P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236170	NM_013285.3(GNL2):c.1024G>T (p.Ala342Ser)	GNL2, LOC126805706 (A410S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287968	NM_013285.3(GNL2):c.992G>A (p.Arg331His)	GNL2, LOC126805706 (R148H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327779	NM_013285.3(GNL2):c.983A>C (p.Asn328Thr)	GNL2, LOC126805706 (N328T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336906	NM_013285.3(GNL2):c.688A>G (p.Met230Val)	GNL2 (M47V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516481	NM_013285.3(GNL2):c.632A>G (p.Tyr211Cys)	GNL2 (Y211C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344920	NM_013285.3(GNL2):c.600G>C (p.Lys200Asn)	GNL2 (K17N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606571	NM_013285.3(GNL2):c.539G>A (p.Arg180His)	GNL2 (R180H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349987	NM_013285.3(GNL2):c.538C>T (p.Arg180Cys)	GNL2 (R180C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266138	NM_013285.3(GNL2):c.492C>G (p.Ile164Met)	GNL2 (I164M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2487803	NM_013285.3(GNL2):c.355T>C (p.Ser119Pro)	GNL2 (S119P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291329	NM_013285.3(GNL2):c.287A>C (p.Gln96Pro)	GNL2 (Q96P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510997	NM_013285.3(GNL2):c.254G>A (p.Arg85His)	GNL2 (R85H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238773	NM_013285.3(GNL2):c.176C>T (p.Pro59Leu)	GNL2 (P59L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242790	NM_013285.3(GNL2):c.163A>G (p.Lys55Glu)	GNL2 (K55E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350676	NM_013285.3(GNL2):c.148A>G (p.Arg50Gly)	GNL2 (R50G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 31