"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "GARS1"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 507357	NM_002047.4(GARS1):c.-6A>G	GARS1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 936043	NM_002047.4(GARS1):c.1A>T (p.Met1Leu)	GARS1 (M1L)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1053662	NM_002047.4(GARS1):c.3G>T (p.Met1Ile)	GARS1 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 2805168	NM_002047.4(GARS1):c.5C>T (p.Pro2Leu)	GARS1 (P2L)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1096484	NM_002047.4(GARS1):c.6C>T (p.Pro2=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 860885	NM_002047.4(GARS1):c.8C>A (p.Ser3Tyr)	GARS1 (S3Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1899357	NM_002047.4(GARS1):c.11C>G (p.Pro4Arg)	GARS1 (P4R)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 220422	NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)	GARS1 (P4L)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +6 more	GBenign/Likely benign
Select item 1155271	NM_002047.4(GARS1):c.12G>A (p.Pro4=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2021700	NM_002047.4(GARS1):c.17C>T (p.Pro6Leu)	GARS1 (P6L)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 760493	NM_002047.4(GARS1):c.18A>G (p.Pro6=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 657471	NM_002047.4(GARS1):c.19G>T (p.Val7Leu)	GARS1 (V7L)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +2 more	GConflicting classifications of pathogenicity
Select item 3005091	NM_002047.4(GARS1):c.28A>G (p.Arg10Gly)	GARS1 (R10G)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1059724	NM_002047.4(GARS1):c.37C>T (p.Arg13Cys)	GARS1 (R13C)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 476757	NM_002047.4(GARS1):c.38_39delinsCT (p.Arg13Pro)	GARS1 (R13P)	Indel (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2913323	NM_002047.4(GARS1):c.43G>A (p.Ala15Thr)	GARS1 (A15T)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 694989	NM_002047.4(GARS1):c.44C>T (p.Ala15Val)	GARS1 (A15V)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 2919422	NM_002047.4(GARS1):c.45T>G (p.Ala15=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 543196	NM_002047.4(GARS1):c.47TGC[7] (p.Leu19_Leu20dup)	GARS1	Microsatellite (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 476759	NM_002047.4(GARS1):c.47TGC[6] (p.Leu20dup)	GARS1	Microsatellite (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 416092	NM_002047.4(GARS1):c.47TGC[4] (p.Leu20del)	GARS1 (L20del)	Microsatellite (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GBenign
Select item 2417794	NM_002047.4(GARS1):c.48G>A (p.Leu16=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 416090	NM_002047.4(GARS1):c.51G>A (p.Leu17=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 962841	NM_002047.4(GARS1):c.52C>A (p.Leu18Met)	GARS1 (L18M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1203950	NM_002047.4(GARS1):c.59T>C (p.Leu20Pro)	GARS1 (L20P)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1124319	NM_002047.4(GARS1):c.69G>T (p.Arg23=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 384840	NM_002047.4(GARS1):c.69G>A (p.Arg23=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1156828	NM_002047.4(GARS1):c.72C>T (p.Leu24=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2915038	NM_002047.4(GARS1):c.80G>A (p.Arg27Gln)	GARS1 (R27Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1680873	NM_002047.4(GARS1):c.87G>T (p.Ser29=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 374602	NM_002047.4(GARS1):c.90C>T (p.Leu30=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2005148	NM_002047.4(GARS1):c.93_94delinsCG (p.Leu32Val)	GARS1 (L32V)	Indel (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 137444	NM_002047.4(GARS1):c.93G>C (p.Leu31=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Neuronopathy, distal hereditary motor, type 5A +5 more	GBenign
Select item 2422410	NM_002047.4(GARS1):c.101G>T (p.Arg34Leu)	GARS1 (R34L)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1680874	NM_002047.4(GARS1):c.101G>A (p.Arg34Gln)	GARS1 (R34Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 804827	NM_002047.4(GARS1):c.104C>G (p.Ser35Cys)	GARS1 (S35C)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1680875	NM_002047.4(GARS1):c.108C>T (p.Leu36=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1680878	NM_002047.4(GARS1):c.110G>A (p.Ser37Asn)	GARS1 (S37N)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1680877	NM_002047.4(GARS1):c.110del (p.Ser37fs)	GARS1 (S37fs)	Deletion (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 573677	NM_002047.4(GARS1):c.112G>A (p.Ala38Thr)	GARS1 (A38T)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1680879	NM_002047.4(GARS1):c.114G>T (p.Ala38=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2891312	NM_002047.4(GARS1):c.117C>T (p.Ala39=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 950612	NM_002047.4(GARS1):c.123C>A (p.Cys41Ter)	GARS1 (C41*)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2716926	NM_002047.4(GARS1):c.124C>A (p.Pro42Thr)	GARS1 (P42T)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 258532	NM_002047.4(GARS1):c.124C>G (p.Pro42Ala)	GARS1 (P42A)	Single nucleotide variant (5 prime UTR variant +1 more)	Neuronopathy, distal hereditary motor, type 5A +7 more	GBenign
Select item 1680880	NM_002047.4(GARS1):c.125C>T (p.Pro42Leu)	GARS1 (P42L)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1680881	NM_002047.4(GARS1):c.128C>G (p.Pro43Arg)	GARS1 (P43R)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1037240	NM_002047.4(GARS1):c.128C>T (p.Pro43Leu)	GARS1 (P43L)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GBenign
Select item 938114	NM_002047.4(GARS1):c.131T>G (p.Ile44Ser)	GARS1 (I44S)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1903083	NM_002047.4(GARS1):c.141C>A (p.Pro47=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 585899	NM_002047.4(GARS1):c.144C>T (p.Ala48=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2697924	NM_002047.4(GARS1):c.145G>C (p.Ala49Pro)	GARS1 (A49P)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2986715	NM_002047.4(GARS1):c.154C>G (p.Arg52Gly)	GARS1 (R52G)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 574424	NM_002047.4(GARS1):c.162C>T (p.Ser54=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 450741	NM_002047.4(GARS1):c.163A>G (p.Met55Val)	GARS1 (M55V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2019909	NM_002047.4(GARS1):c.164T>C (p.Met55Thr)	GARS1 (M55T +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 585900	NM_002047.4(GARS1):c.174G>A (p.Ala58=)	GARS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 452076	NM_002047.4(GARS1):c.186G>C (p.Glu62Asp)	GARS1 (E62D +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 578723	NM_002047.4(GARS1):c.190_192dup (p.Leu64dup)	GARS1	Duplication (inframe_insertion)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2193576	NM_002047.4(GARS1):c.189G>C (p.Val63=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2048473	NM_002047.4(GARS1):c.194C>A (p.Ala65Glu)	GARS1 (A11E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1680883	NM_002047.4(GARS1):c.194C>T (p.Ala65Val)	GARS1 (A11V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 410313	NM_002047.4(GARS1):c.196C>T (p.Pro66Ser)	GARS1 (P66S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2785895	NM_002047.4(GARS1):c.197C>G (p.Pro66Arg)	GARS1 (P12R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1093353	NM_002047.4(GARS1):c.207A>G (p.Leu69=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1680884	NM_002047.4(GARS1):c.208G>C (p.Ala70Pro)	GARS1 (A16P +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3022343	NM_002047.4(GARS1):c.212T>C (p.Val71Ala)	GARS1 (V71A +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2729972	NM_002047.4(GARS1):c.216C>T (p.Arg72=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2185608	NM_002047.4(GARS1):c.218A>T (p.Gln73Leu)	GARS1 (Q73L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 137439	NM_002047.4(GARS1):c.222+5C>T	GARS1	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 5A +5 more	GBenign
Select item 2020813	NM_002047.4(GARS1):c.222+6G>A	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2420467	NM_002047.4(GARS1):c.222+17C>A	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 543297	NC_000007.14:g.(?_30598776)_(30598917_?)del	GARS1	Deletion	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2902755	NM_002047.4(GARS1):c.223-5G>A	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1965450	NM_002047.4(GARS1):c.223-5G>T	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 242312	NM_002047.4(GARS1):c.227A>G (p.Asp76Gly)	GARS1 (D76G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1680885	NM_002047.4(GARS1):c.234G>A (p.Val78=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 188197	NM_002047.4(GARS1):c.236G>A (p.Arg79Gln)	GARS1 (R79Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1680886	NM_002047.4(GARS1):c.250G>A (p.Asp84Asn)	GARS1 (D30N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 422016	NM_002047.4(GARS1):c.253A>G (p.Lys85Glu)	GARS1 (K85E +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2159384	NM_002047.4(GARS1):c.261C>T (p.Pro87=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 410311	NM_002047.4(GARS1):c.262C>G (p.Gln88Glu)	GARS1 (Q88E +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2724010	NM_002047.4(GARS1):c.263A>G (p.Gln88Arg)	GARS1 (Q88R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1123519	NM_002047.4(GARS1):c.264A>G (p.Gln88=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 360002	NM_002047.4(GARS1):c.270C>T (p.Asp90=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2D +6 more	GBenign/Likely benign
Select item 543221	NM_002047.4(GARS1):c.281C>A (p.Ala94Glu)	GARS1 (A94E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 917319	NM_002047.4(GARS1):c.282A>G (p.Ala94=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 1680887	NM_002047.4(GARS1):c.300C>G (p.Ala100=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 665249	NM_002047.4(GARS1):c.301C>T (p.Arg101Cys)	GARS1 (R47C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GConflicting classifications of pathogenicity
Select item 245685	NM_002047.4(GARS1):c.302G>A (p.Arg101His)	GARS1 (R101H +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 245830	NM_002047.4(GARS1):c.305A>G (p.Lys102Arg)	GARS1 (K102R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 933677	NM_002047.4(GARS1):c.309G>C (p.Arg103Ser)	GARS1 (R103S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1935167	NM_002047.4(GARS1):c.311T>C (p.Val104Ala)	GARS1 (V104A +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1163864	NM_002047.4(GARS1):c.313C>G (p.Leu105Val)	GARS1 (L105V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1680889	NM_002047.4(GARS1):c.315G>A (p.Leu105=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2772122	NM_002047.4(GARS1):c.324G>A (p.Lys108=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1003427	NM_002047.4(GARS1):c.324+3G>A	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1680890	NM_002047.4(GARS1):c.324+19A>C	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 736040	NM_002047.4(GARS1):c.325-9C>A	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 511805	NM_002047.4(GARS1):c.325-9C>G	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign

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