AARS2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 357054	NM_020745.4(AARS2):c.*9C>T	AARS2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1201845	NM_020745.4(AARS2):c.2952G>C (p.Gln984His)	AARS2 (Q984H)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2018705	NM_020745.4(AARS2):c.2908C>T (p.Leu970=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1584588	NM_020745.4(AARS2):c.2892C>T (p.Thr964=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3262465	NM_020745.4(AARS2):c.2876T>C (p.Val959Ala)	AARS2 (V959A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2971836	NM_020745.4(AARS2):c.2871_2872inv (p.Arg958Ter)	AARS2 (R958*)	Inversion (nonsense)	not provided	GPathogenic
Select item 2385967	NM_020745.4(AARS2):c.2872C>T (p.Arg958Ter)	AARS2 (R958*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 2024313	NM_020745.4(AARS2):c.2830C>T (p.Leu944=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1185550	NM_020745.4(AARS2):c.2793+86_2793+87insCAGA	AARS2	Insertion (intron variant)	Leukoencephalopathy, progressive, with ovarian failure +2 more	GBenign
Select item 2019769	NM_020745.4(AARS2):c.2793+20A>G	AARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2227681	NM_020745.4(AARS2):c.2783A>G (p.Gln928Arg)	AARS2 (Q928R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 384888	NM_020745.4(AARS2):c.2730G>A (p.Thr910=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964414	NM_020745.4(AARS2):c.2729C>T (p.Thr910Met)	AARS2 (T910M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1366359	NM_020745.4(AARS2):c.2729C>G (p.Thr910Arg)	AARS2 (T910R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414479	NM_020745.4(AARS2):c.2718G>C (p.Gln906His)	AARS2 (Q906H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346175	NM_020745.4(AARS2):c.2702G>A (p.Arg901Gln)	AARS2 (R901Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2699053	NM_020745.4(AARS2):c.2685G>C (p.Val895=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 632485	NM_020745.4(AARS2):c.2683-1G>T	AARS2	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 1939109	NM_020745.4(AARS2):c.2683-21_2683-20inv	AARS2	Inversion (intron variant)	not provided	GUncertain significance
Select item 1194530	NM_020745.4(AARS2):c.2683-45G>C	AARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197780	NM_020745.4(AARS2):c.2682+31G>C	AARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193133	NM_020745.4(AARS2):c.2682+27C>T	AARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2179715	NM_020745.4(AARS2):c.2682+10A>T	AARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1802985	NM_020745.4(AARS2):c.2682+5G>A	AARS2	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 1429819	NM_020745.4(AARS2):c.2668G>A (p.Ala890Thr)	AARS2 (A890T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379544	NM_020745.4(AARS2):c.2658C>A (p.Asp886Glu)	AARS2 (D886E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087089	NM_020745.4(AARS2):c.2654T>G (p.Val885Gly)	AARS2 (V885G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104801	NM_020745.4(AARS2):c.2643G>T (p.Gly881=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077823	NM_020745.4(AARS2):c.2636C>T (p.Ser879Leu)	AARS2 (S879L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136220	NM_020745.4(AARS2):c.2629C>T (p.Arg877Trp)	AARS2 (R877W)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +3 more	GBenign/Likely benign
Select item 2792400	NM_020745.4(AARS2):c.2622G>A (p.Leu874=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2576588	NM_020745.4(AARS2):c.2611dup (p.Thr871fs)	AARS2 (T871fs)	Duplication (frameshift variant)	Leukoencephalopathy, progressive, with ovarian failure +1 more	GPathogenic
Select item 2124832	NM_020745.4(AARS2):c.2607del (p.Thr871fs)	AARS2 (T871fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 873458	NM_020745.4(AARS2):c.2599-1G>A	AARS2	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 8	GLikely pathogenic
Select item 1201982	NM_020745.4(AARS2):c.2599-221A>G	AARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226807	NM_020745.4(AARS2):c.2598+130_2598+132del	AARS2	Deletion (intron variant)	not provided	GBenign
Select item 1185349	NM_020745.4(AARS2):c.2598+117G>C	AARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 8 +2 more	GBenign
Select item 422372	NM_020745.4(AARS2):c.2598+9_2598+11del	AARS2	Microsatellite (intron variant)	not specified +1 more	GLikely benign
Select item 1918470	NM_020745.4(AARS2):c.2598+3G>A	AARS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 280559	NM_020745.4(AARS2):c.2598+1G>T	AARS2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1415125	NM_020745.4(AARS2):c.2579G>A (p.Arg860His)	AARS2 (R860H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414923	NM_020745.4(AARS2):c.2577C>T (p.Ile859=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3138168	NM_020745.4(AARS2):c.2570C>T (p.Thr857Ile)	AARS2 (T857I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1368424	NM_020745.4(AARS2):c.2561G>A (p.Arg854His)	AARS2 (R854H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2896636	NM_020745.4(AARS2):c.2556G>A (p.Gln852=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 136218	NM_020745.4(AARS2):c.2548A>G (p.Met850Val)	AARS2 (M850V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +3 more	GBenign
Select item 1314019	NM_020745.4(AARS2):c.2542G>A (p.Val848Met)	AARS2 (V848M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1398055	NM_020745.4(AARS2):c.2525G>A (p.Arg842Gln)	AARS2 (R842Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1349031	NM_020745.4(AARS2):c.2524C>T (p.Arg842Trp)	AARS2 (R842W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046083	NM_020745.4(AARS2):c.2522G>A (p.Arg841Gln)	AARS2 (R841Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1669930	NM_020745.4(AARS2):c.2488-16C>T	AARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204808	NM_020745.4(AARS2):c.2488-101A>G	AARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1685483	NM_020745.4(AARS2):c.2487+1G>C	AARS2	Single nucleotide variant (splice donor variant)	Combined oxidative phosphorylation defect type 8	GPathogenic
Select item 2215853	NM_020745.4(AARS2):c.2483T>C (p.Ile828Thr)	AARS2 (I828T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2585003	NM_020745.4(AARS2):c.2476C>T (p.Arg826Ter)	AARS2 (R826*)	Single nucleotide variant (nonsense)	Leukoencephalopathy, progressive, with ovarian failure	GLikely pathogenic
Select item 1204750	NM_020745.4(AARS2):c.2471T>C (p.Ile824Thr)	AARS2 (I824T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1633027	NM_020745.4(AARS2):c.2445G>A (p.Ala815=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2438705	NM_020745.4(AARS2):c.2444C>T (p.Ala815Val)	AARS2 (A815V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172094	NM_020745.4(AARS2):c.2435G>A (p.Arg812Gln)	AARS2 (R812Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1385180	NM_020745.4(AARS2):c.2417G>A (p.Arg806Gln)	AARS2 (R806Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1638229	NM_020745.4(AARS2):c.2416C>T (p.Arg806Trp)	AARS2 (R806W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1528313	NM_020745.4(AARS2):c.2406G>A (p.Ala802=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719959	NM_020745.4(AARS2):c.2397A>G (p.Glu799=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980940	NM_020745.4(AARS2):c.2393del (p.Gln798fs)	AARS2 (Q798fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1464927	NM_020745.4(AARS2):c.2369G>A (p.Arg790Gln)	AARS2 (R790Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004743	NM_020745.4(AARS2):c.2365-10C>T	AARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904150	NM_020745.4(AARS2):c.2365-11C>A	AARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1614079	NM_020745.4(AARS2):c.2365-16T>C	AARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188375	NM_020745.4(AARS2):c.2365-87C>T	AARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294329	NM_020745.4(AARS2):c.2365-115G>C	AARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190767	NM_020745.4(AARS2):c.2364+111T>C	AARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915248	NM_020745.4(AARS2):c.2364+19C>G	AARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959964	NM_020745.4(AARS2):c.2362C>G (p.Gln788Glu)	AARS2 (Q788E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004428	NM_020745.4(AARS2):c.2329C>T (p.Arg777Cys)	AARS2 (R777C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2080856	NM_020745.4(AARS2):c.2322C>T (p.Gly774=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2581473	NM_020745.4(AARS2):c.2308C>T (p.Gln770Ter)	AARS2 (Q770*)	Single nucleotide variant (nonsense)	AARS2-related disorder	GPathogenic
Select item 2043963	NM_020745.4(AARS2):c.2306G>A (p.Arg769His)	AARS2 (R769H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2557069	NM_020745.4(AARS2):c.2299G>A (p.Gly767Arg)	AARS2 (G767R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1371320	NM_020745.4(AARS2):c.2283G>T (p.Gly761=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1465104	NM_020745.4(AARS2):c.2270C>T (p.Thr757Ile)	AARS2 (T757I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186608	NM_020745.4(AARS2):c.2267G>A (p.Arg756His)	AARS2 (R756H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478961	NM_020745.4(AARS2):c.2256-2A>G	AARS2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1216011	NM_020745.4(AARS2):c.2256-51C>G	AARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185350	NM_020745.4(AARS2):c.2255+35C>A	AARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 8 +2 more	GBenign
Select item 2132366	NM_020745.4(AARS2):c.2255+12C>T	AARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2575889	NM_020745.4(AARS2):c.2255+5G>A	AARS2	Single nucleotide variant (intron variant)	Leukoencephalopathy, progressive, with ovarian failure	GLikely pathogenic
Select item 1322029	NM_020745.4(AARS2):c.2255+1G>A	AARS2	Single nucleotide variant (splice donor variant)	Combined oxidative phosphorylation defect type 8	GPathogenic
Select item 2111083	NM_020745.4(AARS2):c.2255C>T (p.Thr752Met)	AARS2 (T752M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136215	NM_020745.4(AARS2):c.2253G>A (p.Gly751=)	AARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 8 +3 more	GBenign/Likely benign
Select item 1579917	NM_020745.4(AARS2):c.2223A>G (p.Ala741=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1478683	NM_020745.4(AARS2):c.2219C>T (p.Ala740Val)	AARS2 (A740V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2410808	NM_020745.4(AARS2):c.2210C>G (p.Ala737Gly)	AARS2 (A737G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2114592	NM_020745.4(AARS2):c.2200T>C (p.Leu734=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2045382	NM_020745.4(AARS2):c.2195A>G (p.His732Arg)	AARS2 (H732R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958920	NM_020745.4(AARS2):c.2187C>T (p.Pro729=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966375	NM_020745.4(AARS2):c.2168T>C (p.Val723Ala)	AARS2 (V723A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1430809	NM_020745.4(AARS2):c.2164C>T (p.Arg722Trp)	AARS2 (R722W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 520861	NM_020745.4(AARS2):c.2146-2A>G	AARS2	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1666939	NM_020745.4(AARS2):c.2146-14C>T	AARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259878	NM_020745.4(AARS2):c.2146-24G>A	AARS2	Single nucleotide variant (intron variant)	not provided	GBenign

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