ClinVar for MedGen (Select 334023) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3730301	NM_003680.4(YARS1):c.127G>A (p.Ala43Thr)	YARS1 (A43T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
Select item 3728710	NM_003680.4(YARS1):c.1304A>G (p.Glu435Gly)	YARS1 (E435G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3716584	NM_003680.4(YARS1):c.592-20G>A	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 3715545	NM_003680.4(YARS1):c.1386T>C (p.Ala462=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 3714814	NM_003680.4(YARS1):c.477T>G (p.Pro159=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 3713473	NM_003680.4(YARS1):c.1137G>T (p.Glu379Asp)	YARS1 (E379D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3711049	NM_003680.4(YARS1):c.510+16G>A	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 3707882	NM_003680.4(YARS1):c.1553C>A (p.Ser518Tyr)	YARS1 (S518Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3707352	NM_003680.4(YARS1):c.974G>A (p.Arg325Gln)	YARS1 (R325Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3705024	NM_003680.4(YARS1):c.1401G>A (p.Val467=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 3703412	NM_003680.4(YARS1):c.1110C>T (p.Ile370=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 3695273	NM_003680.4(YARS1):c.1111C>T (p.Arg371Cys)	YARS1 (R371C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3690908	NM_003680.4(YARS1):c.181G>T (p.Asp61Tyr)	YARS1 (D61Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3690591	NM_003680.4(YARS1):c.972C>G (p.Ile324Met)	YARS1 (I324M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3687936	NM_003680.4(YARS1):c.807T>G (p.Phe269Leu)	LOC126805688, YARS1 (F269L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3686307	NM_003680.4(YARS1):c.1066A>C (p.Lys356Gln)	YARS1 (K356Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3680116	NM_003680.4(YARS1):c.1042+1G>A	YARS1	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3679293	NM_003680.4(YARS1):c.453G>C (p.Glu151Asp)	YARS1 (E151D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3668620	NM_003680.4(YARS1):c.1575del (p.Asn526fs)	YARS1 (N526fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3668151	NM_003680.4(YARS1):c.734_735dup (p.Lys246Ter)	LOC126805688, YARS1 (K246*)	Duplication (nonsense)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3666021	NM_003680.4(YARS1):c.684+17G>C	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 3665994	NM_003680.4(YARS1):c.1228G>C (p.Val410Leu)	YARS1 (V410L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3665304	NM_003680.4(YARS1):c.592-17T>C	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 3664147	NM_003680.4(YARS1):c.246C>G (p.Asn82Lys)	YARS1 (N82K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3663927	NM_003680.4(YARS1):c.1225T>C (p.Phe409Leu)	YARS1 (F409L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3663815	NM_003680.4(YARS1):c.295A>T (p.Asn99Tyr)	YARS1 (N99Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3663084	NM_003680.4(YARS1):c.198G>T (p.Gly66=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 3656002	NM_003680.4(YARS1):c.1504A>C (p.Ile502Leu)	YARS1 (I502L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3650995	NM_003680.4(YARS1):c.964G>A (p.Asp322Asn)	YARS1 (D322N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3650349	NM_003680.4(YARS1):c.1132G>A (p.Val378Met)	YARS1 (V378M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3647670	NM_003680.4(YARS1):c.1273A>C (p.Asn425His)	YARS1 (N425H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3641658	NM_003680.4(YARS1):c.851G>C (p.Gly284Ala)	LOC126805688, YARS1 (G284A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3630740	NM_003680.4(YARS1):c.821-4A>G	LOC126805688, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 3629201	NM_003680.4(YARS1):c.456G>A (p.Val152=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 3626196	NM_003680.4(YARS1):c.180A>G (p.Ala60=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 3625604	NM_003680.4(YARS1):c.813T>C (p.Leu271=)	LOC126805688, YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 3622174	NM_003680.4(YARS1):c.1043-20G>A	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 3619891	NM_003680.4(YARS1):c.47G>A (p.Arg16Gln)	S100PBP, YARS1 (R16Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3471614	NM_003680.4(YARS1):c.356A>G (p.Lys119Arg)	YARS1 (K119R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
Select item 3391267	NM_003680.4(YARS1):c.793A>G (p.Lys265Glu)	LOC126805688, YARS1 (K265E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
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

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