"Ambry Genetics"[submitter] AND "NARS2"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2227362	NM_024678.6(NARS2):c.1417C>A (p.His473Asn)	NARS2 (H246N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2521973	NM_024678.6(NARS2):c.1382A>G (p.Asn461Ser)	NARS2 (N234S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 381863	NM_024678.6(NARS2):c.1262+6G>A	NARS2	Single nucleotide variant (intron variant)	NARS2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2366938	NM_024678.6(NARS2):c.1252C>T (p.Arg418Cys)	NARS2 (R191C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2052478	NM_024678.6(NARS2):c.1237C>G (p.His413Asp)	NARS2 (H186D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2514954	NM_024678.6(NARS2):c.1196T>G (p.Val399Gly)	NARS2 (V399G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522878	NM_024678.6(NARS2):c.1145A>C (p.Glu382Ala)	LOC130006506, NARS2 (E155A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231782	NM_024678.6(NARS2):c.1039C>G (p.Leu347Val)	NARS2 (L120V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314368	NM_024678.6(NARS2):c.982G>A (p.Glu328Lys)	NARS2 (E101K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394042	NM_024678.6(NARS2):c.975A>T (p.Glu325Asp)	NARS2 (E98D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553226	NM_024678.6(NARS2):c.911C>G (p.Pro304Arg)	NARS2 (P304R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1029917	NM_024678.6(NARS2):c.847A>G (p.Thr283Ala)	NARS2 (T283A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1700512	NM_024678.6(NARS2):c.728G>A (p.Arg243Gln)	NARS2 (R16Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2546558	NM_024678.6(NARS2):c.719C>T (p.Pro240Leu)	NARS2 (P13L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1511898	NM_024678.6(NARS2):c.689+6A>G	NARS2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1940953	NM_024678.6(NARS2):c.613G>A (p.Val205Ile)	NARS2 (V205I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2329162	NM_024678.6(NARS2):c.607C>T (p.Leu203Phe)	NARS2 (L203F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2189383	NM_024678.6(NARS2):c.544A>G (p.Ile182Val)	NARS2 (I182V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 513490	NM_024678.6(NARS2):c.514-3C>T	NARS2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 377031	NM_024678.6(NARS2):c.506T>A (p.Phe169Tyr)	NARS2 (F169Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1329786	NM_024678.6(NARS2):c.451G>A (p.Val151Ile)	NARS2 (V151I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2613996	NM_024678.6(NARS2):c.409G>C (p.Glu137Gln)	NARS2 (E137Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246649	NM_024678.6(NARS2):c.373-4G>A	NARS2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2378180	NM_024678.6(NARS2):c.343A>G (p.Ile115Val)	NARS2 (I115V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236117	NM_024678.6(NARS2):c.287G>C (p.Gly96Ala)	NARS2 (G96A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493545	NM_024678.6(NARS2):c.274G>A (p.Val92Met)	NARS2 (V92M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319930	NM_024678.6(NARS2):c.227T>C (p.Val76Ala)	NARS2 (V76A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1326139	NM_024678.6(NARS2):c.206C>G (p.Ser69Cys)	NARS2 (S69C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1431871	NM_024678.6(NARS2):c.128G>T (p.Arg43Leu)	NARS2 (R43L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 985312	NM_024678.6(NARS2):c.5T>C (p.Leu2Pro)	NARS2 (L2P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 30