ClinVar for MedGen (Select 334023) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247747	NC_000001.10:g.(?_33241582)_(33256875_?)del	YARS1	Deletion	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3238857	NM_003680.4(YARS1):c.471G>C (p.Glu157Asp)	YARS1 (E157D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3019592	NM_003680.4(YARS1):c.43A>G (p.Thr15Ala)	S100PBP, YARS1 (T15A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3016299	NM_003680.4(YARS1):c.907-11C>T	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 3012743	NM_003680.4(YARS1):c.140A>G (p.Lys47Arg)	YARS1 (K47R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3010569	NM_003680.4(YARS1):c.642G>C (p.Met214Ile)	YARS1 (M214I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3010295	NM_003680.4(YARS1):c.907-19G>A	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 3006071	NM_003680.4(YARS1):c.854del (p.Gly285fs)	LOC126805688, YARS1 (G285fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2984807	NM_003680.4(YARS1):c.1249G>A (p.Asp417Asn)	YARS1 (D417N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2984457	NM_003680.4(YARS1):c.1204G>A (p.Val402Met)	YARS1 (V402M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2982074	NM_003680.4(YARS1):c.1285C>T (p.Gln429Ter)	YARS1 (Q429*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2963990	NM_003680.4(YARS1):c.233C>G (p.Ala78Gly)	YARS1 (A78G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2959125	NM_003680.4(YARS1):c.1261G>A (p.Val421Met)	YARS1 (V421M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2956923	NM_003680.4(YARS1):c.1182G>T (p.Val394=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2955435	NM_003680.4(YARS1):c.907-4G>A	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2955065	NM_003680.4(YARS1):c.1433A>T (p.Asp478Val)	YARS1 (D478V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2917160	NM_003680.4(YARS1):c.501del (p.Gly168fs)	YARS1 (G168fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2914417	NM_003680.4(YARS1):c.749G>C (p.Cys250Ser)	LOC126805688, YARS1 (C250S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2912070	NM_003680.4(YARS1):c.779T>C (p.Val260Ala)	LOC126805688, YARS1 (V260A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2910103	NM_003680.4(YARS1):c.710G>A (p.Arg237Gln)	LOC126805688, YARS1 (R237Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2907962	NM_003680.4(YARS1):c.1137G>A (p.Glu379=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2907175	NM_003680.4(YARS1):c.1335-17G>C	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2906846	NM_003680.4(YARS1):c.1190C>T (p.Ala397Val)	YARS1 (A397V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2902395	NM_003680.4(YARS1):c.138C>T (p.Gly46=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2894198	NM_003680.4(YARS1):c.1118_1135dup (p.Val378_Glu379insGlyLysIleIleThrVal)	YARS1	Duplication (inframe_insertion)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2891480	NM_003680.4(YARS1):c.876C>T (p.Tyr292=)	LOC126805688, YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2890588	NM_003680.4(YARS1):c.591+4_591+7del	YARS1	Deletion (splice donor variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2889571	NM_003680.4(YARS1):c.206dup (p.Thr70fs)	YARS1 (T70fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2884438	NM_003680.4(YARS1):c.1523C>T (p.Thr508Ile)	YARS1 (T508I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2872609	NM_003680.4(YARS1):c.414C>G (p.Ser138=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2859795	NM_003680.4(YARS1):c.161T>C (p.Val54Ala)	YARS1 (V54A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2855595	NM_003680.4(YARS1):c.1124T>A (p.Ile375Asn)	YARS1 (I375N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2850464	NM_003680.4(YARS1):c.380+13T>G	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2848291	NM_003680.4(YARS1):c.1255C>T (p.Leu419=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2847914	NM_003680.4(YARS1):c.1523C>A (p.Thr508Asn)	YARS1 (T508N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2845449	NM_003680.4(YARS1):c.1476+17G>T	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2839876	NM_003680.4(YARS1):c.510+12G>A	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2832298	NM_003680.4(YARS1):c.992C>G (p.Pro331Arg)	YARS1 (P331R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2832002	NM_003680.4(YARS1):c.389C>T (p.Thr130Ile)	YARS1 (T130I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2820625	NM_003680.4(YARS1):c.801C>G (p.Val267=)	LOC126805688, YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2815390	NM_003680.4(YARS1):c.1568A>G (p.Lys523Arg)	YARS1 (K523R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2811120	NM_003680.4(YARS1):c.945C>A (p.Val315=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2806720	NM_003680.4(YARS1):c.381-9C>T	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2804480	NM_003680.4(YARS1):c.749G>A (p.Cys250Tyr)	LOC126805688, YARS1 (C250Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2803722	NM_003680.4(YARS1):c.1086G>C (p.Glu362Asp)	YARS1 (E362D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2802828	NM_003680.4(YARS1):c.592-11dup	YARS1	Duplication (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2802040	NM_003680.4(YARS1):c.695T>C (p.Ile232Thr)	LOC126805688, YARS1 (I232T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2788865	NM_003680.4(YARS1):c.204+12T>C	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2785127	NM_003680.4(YARS1):c.970A>G (p.Ile324Val)	YARS1 (I324V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2784756	NM_003680.4(YARS1):c.397G>A (p.Val133Met)	YARS1 (V133M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2770637	NM_003680.4(YARS1):c.76A>G (p.Lys26Glu)	YARS1 (K26E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2760474	NM_003680.4(YARS1):c.426G>A (p.Gln142=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2758608	NM_003680.4(YARS1):c.424C>T (p.Gln142Ter)	YARS1 (Q142*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2758561	NM_003680.4(YARS1):c.57+10G>T	S100PBP, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2751217	NM_003680.4(YARS1):c.1507G>C (p.Ala503Pro)	YARS1 (A503P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2748406	NM_003680.4(YARS1):c.244A>G (p.Asn82Asp)	YARS1 (N82D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2747229	NM_003680.4(YARS1):c.1010C>G (p.Ala337Gly)	YARS1 (A337G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2745923	NM_003680.4(YARS1):c.1140+4C>G	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2741359	NM_003680.4(YARS1):c.870A>G (p.Thr290=)	LOC126805688, YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2738188	NM_003680.4(YARS1):c.1185G>A (p.Gly395=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2733614	NM_003680.4(YARS1):c.802C>T (p.Leu268Phe)	LOC126805688, YARS1 (L268F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2731485	NM_003680.4(YARS1):c.906+12G>T	LOC126805688, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2725779	NM_003680.4(YARS1):c.1324T>G (p.Cys442Gly)	YARS1 (C442G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2723543	NM_003680.4(YARS1):c.1451A>G (p.Lys484Arg)	YARS1 (K484R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2722829	NM_003680.4(YARS1):c.820G>C (p.Glu274Gln)	LOC126805688, YARS1 (E274Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2701713	NM_003680.4(YARS1):c.88A>T (p.Ile30Leu)	YARS1 (I30L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2699641	NM_003680.4(YARS1):c.684+18A>G	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2694293	NM_003680.4(YARS1):c.762T>C (p.Asn254=)	LOC126805688, YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2692307	NM_003680.4(YARS1):c.640A>G (p.Met214Val)	YARS1 (M214V)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +1 more	GUncertain significance
Select item 2424723	NC_000001.10:g.(?_33246629)_(33248160_?)del	YARS1	Deletion	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2424722	NC_000001.10:g.(?_33256743)_(33272232_?)del	YARS1	Deletion	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2424721	NC_000001.10:g.(?_33247985)_(33248160_?)del	YARS1	Deletion	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2420969	NM_003680.4(YARS1):c.973C>T (p.Arg325Trp)	YARS1 (R325W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2418743	NM_003680.4(YARS1):c.511-3C>G	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2418048	NM_003680.4(YARS1):c.462G>A (p.Lys154=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2389445	NM_003680.4(YARS1):c.773A>G (p.Asn258Ser)	LOC126805688, YARS1 (N258S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
Select item 2332507	NM_003680.4(YARS1):c.167T>C (p.Met56Thr)	YARS1 (M56T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
Select item 2299521	NM_003680.4(YARS1):c.564G>C (p.Gln188His)	YARS1 (Q188H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
Select item 2186835	NM_003680.4(YARS1):c.1141-16C>T	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 2184136	NM_003680.4(YARS1):c.1476+20C>T	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2184135	NM_003680.4(YARS1):c.271G>C (p.Glu91Gln)	YARS1 (E91Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2181722	NM_003680.4(YARS1):c.591+17C>T	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2180865	NM_003680.4(YARS1):c.101G>A (p.Arg34Gln)	YARS1 (R34Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2166788	NM_003680.4(YARS1):c.1477-22CT[2]	YARS1	Microsatellite (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2164814	NM_003680.4(YARS1):c.1579A>G (p.Ile527Val)	YARS1 (I527V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2162968	NM_003680.4(YARS1):c.205-11C>T	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2162375	NM_003680.4(YARS1):c.836G>A (p.Arg279Gln)	LOC126805688, YARS1 (R279Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2162373	NM_003680.4(YARS1):c.1563G>A (p.Ser521=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2158237	NM_003680.4(YARS1):c.907-7T>G	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2156297	NM_003680.4(YARS1):c.1349G>T (p.Arg450Leu)	YARS1 (R450L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2153923	NM_003680.4(YARS1):c.1042+20G>A	YARS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2149703	NM_003680.4(YARS1):c.205-17C>T	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2148059	NM_003680.4(YARS1):c.670A>G (p.Ser224Gly)	YARS1 (S224G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2147607	NM_003680.4(YARS1):c.715G>A (p.Glu239Lys)	LOC126805688, YARS1 (E239K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2146809	NM_003680.4(YARS1):c.1043-19G>A	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2139189	NM_003680.4(YARS1):c.1078C>G (p.Pro360Ala)	YARS1 (P360A)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +1 more	GUncertain significance
Select item 2136440	NM_003680.4(YARS1):c.591+20T>C	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2134126	NM_003680.4(YARS1):c.57+1G>T	S100PBP, YARS1	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2130533	NM_003680.4(YARS1):c.808C>G (p.Pro270Ala)	LOC126805688, YARS1 (P270A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2129481	NM_003680.4(YARS1):c.1439A>G (p.Glu480Gly)	YARS1 (E480G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance

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