ClinVar for Gene (Select 16) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336243	NM_001605.3(AARS1):c.1222+4G>A	AARS1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3261519	NM_001605.3(AARS1):c.364C>G (p.Leu122Val)	AARS1 (L122V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257094	NM_001605.3(AARS1):c.1572G>A (p.Glu524=)	AARS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3252229	NM_001605.3(AARS1):c.1240C>A (p.Leu414Ile)	AARS1 (L414I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251592	NC_000016.9:g.(?_70286200)_(70296428_70298860)del	AARS1	Deletion	not specified	GUncertain significance
Select item 3251173	NM_001605.3(AARS1):c.2884C>T (p.Arg962Cys)	AARS1 (R962C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250632	NM_001605.3(AARS1):c.49T>G (p.Phe17Val)	AARS1 (F17V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243655	NC_000016.9:g.(?_70286624)_(72146396_?)del	AARS1, AP1G1 +27 more	Deletion	not provided	GPathogenic
Select item 3243572	NC_000016.9:g.(?_70310369)_(70311077_?)dup	AARS1	Duplication	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 3243570	NC_000016.9:g.(?_70289611)_(70293109_?)dup	AARS1	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3243569	NC_000016.9:g.(?_70305664)_(70834803_?)dup	FCSK, DDX19B +8 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3243568	NC_000016.9:g.(?_70286624)_(70316666_?)dup	AARS1	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3243567	NC_000016.9:g.(?_70286624)_(70304263_?)del	AARS1	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 3243566	NC_000016.9:g.(?_70310369)_(70316666_?)del	AARS1	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 3243565	NC_000016.9:g.(?_70301542)_(70301732_?)del	AARS1	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AP1G1, AARS1 +51 more	Deletion	Immunodeficiency	GUncertain significance
Select item 3239566	NM_001605.3(AARS1):c.333+5G>A	AARS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3234348	NM_001605.3(AARS1):c.584T>C (p.Ile195Thr)	AARS1 (I195T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3136451	NM_001605.3(AARS1):c.806C>A (p.Ala269Asp)	AARS1 (A269D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136303	NM_001605.3(AARS1):c.397C>T (p.Leu133Phe)	AARS1 (L133F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136282	NM_001605.3(AARS1):c.38G>A (p.Arg13Gln)	AARS1 (R13Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136136	NM_001605.3(AARS1):c.2861T>A (p.Leu954Gln)	AARS1 (L954Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136079	NM_001605.3(AARS1):c.2605A>G (p.Lys869Glu)	AARS1 (K869E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135944	NM_001605.3(AARS1):c.2197C>T (p.His733Tyr)	AARS1 (H733Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135529	NM_001605.3(AARS1):c.1594A>T (p.Thr532Ser)	AARS1 (T532S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135196	NM_001605.3(AARS1):c.1358A>G (p.Gln453Arg)	AARS1 (Q453R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135046	NM_001605.3(AARS1):c.1153A>T (p.Thr385Ser)	AARS1 (T385S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065331	NM_001605.3(AARS1):c.673G>C (p.Glu225Gln)	AARS1 (E225Q)	Single nucleotide variant (missense variant)	Trichothiodystrophy 8, nonphotosensitive	GLikely pathogenic
Select item 3063458	GRCh37/hg19 16q22.1(chr16:70180112-70650383)x3	AARS1, CLEC18C +10 more	Copy number gain	not specified	GUncertain significance
Select item 3040454	NM_001605.3(AARS1):c.543G>T (p.Thr181=)	AARS1	Single nucleotide variant (synonymous variant)	AARS1-related disorder	GLikely benign
Select item 3027452	NM_001605.3(AARS1):c.596A>T (p.Asp199Val)	AARS1 (D199V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 3026717	NM_001605.3(AARS1):c.2075A>T (p.Asp692Val)	AARS1 (D692V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020224	NM_001605.3(AARS1):c.1861G>A (p.Glu621Lys)	AARS1 (E621K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3018993	NM_001605.3(AARS1):c.2045T>A (p.Leu682Gln)	AARS1 (L682Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3017172	NM_001605.3(AARS1):c.2720A>G (p.Gln907Arg)	AARS1 (Q907R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3016786	NM_001605.3(AARS1):c.406A>G (p.Thr136Ala)	AARS1 (T136A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3016776	NM_001605.3(AARS1):c.1785+5G>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3015198	NM_001605.3(AARS1):c.583A>G (p.Ile195Val)	AARS1 (I195V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3014869	NM_001605.3(AARS1):c.2400+5G>A	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3013895	NM_001605.3(AARS1):c.2170G>A (p.Gly724Arg)	AARS1 (G724R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3013215	NM_001605.3(AARS1):c.1223-15C>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3011512	NM_001605.3(AARS1):c.817-4A>C	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3009818	NM_001605.3(AARS1):c.1494A>G (p.Val498=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3007101	NM_001605.3(AARS1):c.1647G>A (p.Val549=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3006928	NM_001605.3(AARS1):c.672-10G>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3006628	NM_001605.3(AARS1):c.380G>T (p.Gly127Val)	AARS1 (G127V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3006243	NM_001605.3(AARS1):c.962+10C>G	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3005033	NM_001605.3(AARS1):c.1321T>C (p.Phe441Leu)	AARS1 (F441L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3003502	NM_001605.3(AARS1):c.1586T>C (p.Leu529Pro)	AARS1 (L529P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3003409	NM_001605.3(AARS1):c.81C>G (p.His27Gln)	AARS1 (H27Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3002248	NM_001605.3(AARS1):c.1347+10T>A	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2999898	NM_001605.3(AARS1):c.352G>C (p.Ala118Pro)	AARS1 (A118P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2996182	NM_001605.3(AARS1):c.593G>A (p.Arg198Gln)	AARS1 (R198Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2996103	NM_001605.3(AARS1):c.1778T>C (p.Ile593Thr)	AARS1 (I593T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2995670	NM_001605.3(AARS1):c.893T>A (p.Leu298Gln)	AARS1 (L298Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2994579	NM_001605.3(AARS1):c.1672-7C>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2993574	NM_001605.3(AARS1):c.1993-16C>G	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2993315	NM_001605.3(AARS1):c.1981G>A (p.Glu661Lys)	AARS1 (E661K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2992233	NM_001605.3(AARS1):c.9T>C (p.Ser3=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2991416	NM_001605.3(AARS1):c.2287-7dup	AARS1	Duplication (intron variant)	Charcot-Marie-Tooth disease type 2	GBenign
Select item 2990169	NM_001605.3(AARS1):c.1178T>A (p.Leu393Gln)	AARS1 (L393Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2989793	NM_001605.3(AARS1):c.2401-16C>G	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2984139	NM_001605.3(AARS1):c.2177+20A>G	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2982855	NM_001605.3(AARS1):c.691A>T (p.Lys231Ter)	AARS1 (K231*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2980755	NM_001605.3(AARS1):c.1123A>G (p.Ile375Val)	AARS1 (I375V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2977116	NM_001605.3(AARS1):c.667A>G (p.Asn223Asp)	AARS1 (N223D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2977112	NM_001605.3(AARS1):c.1953G>A (p.Lys651=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2976416	NM_001605.3(AARS1):c.2339A>C (p.Lys780Thr)	AARS1 (K780T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2974934	NM_001605.3(AARS1):c.963-9C>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2973057	NM_001605.3(AARS1):c.2607+14C>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2970957	NM_001605.3(AARS1):c.1071+15C>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2968751	NM_001605.3(AARS1):c.1492+10T>A	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2968691	NM_001605.3(AARS1):c.555T>A (p.Gly185=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2968663	NM_001605.3(AARS1):c.1523C>G (p.Ala508Gly)	AARS1 (A508G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 2967578	NM_001605.3(AARS1):c.1579G>A (p.Val527Met)	AARS1 (V527M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2962965	NM_001605.3(AARS1):c.1302G>C (p.Leu434=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2961603	NM_001605.3(AARS1):c.1417C>T (p.Leu473Phe)	AARS1 (L473F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2961113	NM_001605.3(AARS1):c.156T>C (p.Ile52=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2959837	NM_001605.3(AARS1):c.2248C>A (p.Arg750=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2959220	NM_001605.3(AARS1):c.2751C>T (p.Ser917=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2957577	NM_001605.3(AARS1):c.598G>A (p.Ala200Thr)	AARS1 (A200T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2957011	NM_001605.3(AARS1):c.671+18C>A	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2955353	NM_001605.3(AARS1):c.2295G>A (p.Arg765=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2955122	NM_001605.3(AARS1):c.1348-17G>A	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2955098	NM_001605.3(AARS1):c.1298G>C (p.Gly433Ala)	AARS1 (G433A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2921218	NM_001605.3(AARS1):c.14dup (p.Thr6fs)	AARS1 (T6fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2920585	NM_001605.3(AARS1):c.706A>G (p.Lys236Glu)	AARS1 (K236E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2919794	NM_001605.3(AARS1):c.1155T>G (p.Thr385=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2919520	NM_001605.3(AARS1):c.688C>T (p.Leu230=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2918835	NM_001605.3(AARS1):c.682G>A (p.Gly228Ser)	AARS1 (G228S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2918157	NM_001605.3(AARS1):c.144+12del	AARS1	Deletion (intron variant)	Charcot-Marie-Tooth disease type 2	GBenign
Select item 2916949	NM_001605.3(AARS1):c.1125T>C (p.Ile375=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2916003	NM_001605.3(AARS1):c.1591A>G (p.Lys531Glu)	AARS1 (K531E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2914427	NM_001605.3(AARS1):c.1614A>C (p.Gln538His)	AARS1 (Q538H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2914002	NM_001605.3(AARS1):c.942G>T (p.Arg314=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2907519	NM_001605.3(AARS1):c.2822C>G (p.Thr941Arg)	AARS1 (T941R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2906304	NM_001605.3(AARS1):c.1719G>A (p.Val573=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2905909	NM_001605.3(AARS1):c.1197C>T (p.Ser399=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2905409	NM_001605.3(AARS1):c.105T>C (p.Asp35=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign

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