ClinVar for Gene (Select 57505) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3482021	NM_020745.4(AARS2):c.2341G>A (p.Val781Ile)	AARS2 (V781I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3481989	NM_020745.4(AARS2):c.43G>A (p.Ala15Thr)	AARS2 (A15T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3481976	NM_020745.4(AARS2):c.2317A>G (p.Lys773Glu)	AARS2 (K773E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3481961	NM_020745.4(AARS2):c.299G>A (p.Arg100Gln)	AARS2 (R100Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3481950	NM_020745.4(AARS2):c.1723C>T (p.Arg575Cys)	AARS2 (R575C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3481939	NM_020745.4(AARS2):c.1031C>T (p.Ser344Leu)	AARS2 (S344L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3481922	NM_020745.4(AARS2):c.2365G>T (p.Ala789Ser)	AARS2 (A789S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3481874	NM_020745.4(AARS2):c.1042C>G (p.Leu348Val)	AARS2 (L348V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3481828	NM_020745.4(AARS2):c.590C>T (p.Ala197Val)	AARS2 (A197V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3481804	NM_020745.4(AARS2):c.2521C>T (p.Arg841Trp)	AARS2 (R841W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3391661	NM_020745.4(AARS2):c.653G>C (p.Cys218Ser)	AARS2 (C218S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379677	NM_020745.4(AARS2):c.1508A>G (p.Gln503Arg)	AARS2 (Q503R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375614	NM_020745.4(AARS2):c.2722C>A (p.Pro908Thr)	AARS2 (P908T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369848	NM_020745.4(AARS2):c.2305C>T (p.Arg769Cys)	AARS2 (R769C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367928	NM_020745.4(AARS2):c.1145C>T (p.Thr382Ile)	AARS2 (T382I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364677	NM_020745.4(AARS2):c.1612C>A (p.Leu538Met)	AARS2 (L538M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362027	NM_020745.4(AARS2):c.2528A>G (p.Glu843Gly)	AARS2 (E843G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360176	NM_020745.4(AARS2):c.401T>C (p.Leu134Pro)	AARS2 (L134P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357988	NM_020745.4(AARS2):c.-9G>C	AARS2	Single nucleotide variant (5 prime UTR variant)	AARS2-related disorder	GLikely benign
Select item 3338774	NM_020745.4(AARS2):c.2330G>A (p.Arg777His)	AARS2 (R777H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3262369	NM_020745.4(AARS2):c.614C>T (p.Pro205Leu)	AARS2 (P205L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262277	NM_020745.4(AARS2):c.691G>A (p.Gly231Arg)	AARS2 (G231R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262195	NM_020745.4(AARS2):c.1868C>T (p.Ala623Val)	AARS2 (A623V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262116	NM_020745.4(AARS2):c.883G>A (p.Ala295Thr)	AARS2 (A295T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3261941	NM_020745.4(AARS2):c.903G>T (p.Arg301Ser)	AARS2 (R301S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3261794	NM_020745.4(AARS2):c.419G>A (p.Gly140Glu)	AARS2 (G140E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254573	NM_020745.4(AARS2):c.1846G>A (p.Val616Met)	AARS2 (V616M)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8	GUncertain significance
Select item 3252749	NM_020745.4(AARS2):c.325G>T (p.Val109Leu)	AARS2 (V109L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252689	NM_020745.4(AARS2):c.816G>T (p.Arg272Ser)	AARS2 (R272S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252230	NM_020745.4(AARS2):c.2050G>C (p.Val684Leu)	AARS2 (V684L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3138928	NM_020745.4(AARS2):c.888A>G (p.Ile296Met)	AARS2 (I296M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3138695	NM_020745.4(AARS2):c.487C>T (p.Pro163Ser)	AARS2 (P163S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3138500	NM_020745.4(AARS2):c.351C>A (p.Asp117Glu)	AARS2 (D117E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3138433	NM_020745.4(AARS2):c.28C>G (p.Arg10Gly)	AARS2 (R10G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3137534	NM_020745.4(AARS2):c.1885A>G (p.Met629Val)	AARS2 (M629V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137265	NM_020745.4(AARS2):c.1627G>A (p.Gly543Arg)	AARS2 (G543R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137131	NM_020745.4(AARS2):c.1399G>A (p.Ala467Thr)	AARS2 (A467T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3137056	NM_020745.4(AARS2):c.1375G>C (p.Glu459Gln)	AARS2 (E459Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137030	NM_020745.4(AARS2):c.1304A>G (p.Glu435Gly)	AARS2 (E435G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063769	NM_020745.4(AARS2):c.93A>T (p.Ser31=)	AARS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3063768	NM_020745.4(AARS2):c.1289A>G (p.Asp430Gly)	AARS2 (D430G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062908	GRCh37/hg19 6p21.1(chr6:44185578-44552951)x3	AARS2, CDC5L +7 more	Copy number gain	not specified	GUncertain significance
Select item 3033673	NM_020745.4(AARS2):c.1753-3C>T	AARS2	Single nucleotide variant (intron variant)	AARS2-related disorder	GLikely benign
Select item 3015343	NM_020745.4(AARS2):c.321A>G (p.Lys107=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006683	NM_020745.4(AARS2):c.582-6C>T	AARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988948	NM_020745.4(AARS2):c.120G>A (p.Ser40=)	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 2974308	NM_020745.4(AARS2):c.1188+16G>A	AARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972715	NM_020745.4(AARS2):c.96G>T (p.Ser32=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971836	NM_020745.4(AARS2):c.2871_2872inv (p.Arg958Ter)	AARS2 (R958*)	Inversion (nonsense)	not provided	GPathogenic
Select item 2971386	NM_020745.4(AARS2):c.1634C>T (p.Ala545Val)	AARS2 (A545V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969061	NM_020745.4(AARS2):c.1036C>A (p.Pro346Thr)	AARS2 (P346T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960691	NM_020745.4(AARS2):c.1150-18C>T	AARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896636	NM_020745.4(AARS2):c.2556G>A (p.Gln852=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2854075	NM_020745.4(AARS2):c.282C>T (p.Ser94=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841924	NM_020745.4(AARS2):c.1542C>G (p.Pro514=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802069	NM_020745.4(AARS2):c.1491T>C (p.His497=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794675	NM_020745.4(AARS2):c.894+16_894+20del	AARS2	Microsatellite (intron variant)	not provided	GLikely 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 2771804	NM_020745.4(AARS2):c.1844A>C (p.Gln615Pro)	AARS2 (Q615P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768118	NM_020745.4(AARS2):c.1936C>T (p.Leu646=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726390	NM_020745.4(AARS2):c.244-13T>C	AARS2	Single nucleotide variant (intron 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 2699053	NM_020745.4(AARS2):c.2685G>C (p.Val895=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696835	NM_020745.4(AARS2):c.348C>T (p.Asn116=)	AARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690790	NM_020745.4(AARS2):c.1261C>T (p.Arg421Trp)	AARS2 (R421W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2656615	NM_020745.4(AARS2):c.1037C>T (p.Pro346Leu)	AARS2 (P346L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2656614	NM_020745.4(AARS2):c.1262G>A (p.Arg421Gln)	AARS2 (R421Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634748	NM_020745.4(AARS2):c.455C>A (p.Ala152Asp)	AARS2 (A152D)	Single nucleotide variant (missense variant)	AARS2-related disorder	GUncertain significance
Select item 2633838	NM_020745.4(AARS2):c.914_917del (p.Tyr305fs)	AARS2 (Y305fs)	Deletion (frameshift variant)	AARS2-related disorder	GLikely pathogenic
Select item 2617964	NM_020745.4(AARS2):c.1183G>C (p.Ala395Pro)	AARS2 (A395P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597488	NM_020745.4(AARS2):c.227A>G (p.Asn76Ser)	AARS2 (N76S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585008	NM_020745.4(AARS2):c.995G>A (p.Ser332Asn)	AARS2 (S332N)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, with ovarian failure	GUncertain significance
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 2581473	NM_020745.4(AARS2):c.2308C>T (p.Gln770Ter)	AARS2 (Q770*)	Single nucleotide variant (nonsense)	AARS2-related disorder	GPathogenic
Select item 2577638	NM_020745.4(AARS2):c.1199T>C (p.Leu400Pro)	AARS2 (L400P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2575890	NM_020745.4(AARS2):c.804G>A (p.Met268Ile)	AARS2 (M268I)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, with ovarian failure	GLikely pathogenic
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 2574937	NM_020745.4(AARS2):c.1739G>A (p.Arg580Gln)	AARS2 (R580Q)	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 2537682	NM_020745.4(AARS2):c.880A>G (p.Asn294Asp)	AARS2 (N294D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519424	NM_020745.4(AARS2):c.1511G>A (p.Arg504His)	AARS2 (R504H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519221	NM_020745.4(AARS2):c.193C>T (p.Arg65Trp)	AARS2 (R65W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501330	NM_020745.4(AARS2):c.1696G>A (p.Ala566Thr)	AARS2 (A566T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2488798	NM_020745.4(AARS2):c.2062G>A (p.Val688Met)	AARS2 (V688M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481747	NM_020745.4(AARS2):c.2108T>C (p.Leu703Pro)	AARS2 (L703P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2438706	NM_020745.4(AARS2):c.739C>A (p.Gln247Lys)	AARS2 (Q247K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2421551	NM_020745.4(AARS2):c.965G>A (p.Arg322His)	AARS2 (R322H)	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 2414479	NM_020745.4(AARS2):c.2718G>C (p.Gln906His)	AARS2 (Q906H)	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 2385967	NM_020745.4(AARS2):c.2872C>T (p.Arg958Ter)	AARS2 (R958*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GLikely pathogenic
Select item 2381440	NM_020745.4(AARS2):c.358G>A (p.Asp120Asn)	AARS2 (D120N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368469	NM_020745.4(AARS2):c.1135G>A (p.Val379Met)	AARS2 (V379M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364903	NM_020745.4(AARS2):c.1102C>A (p.Pro368Thr)	AARS2 (P368T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361983	NM_020745.4(AARS2):c.1819C>T (p.Pro607Ser)	AARS2 (P607S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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