"Ambry Genetics"[submitter] AND "GARS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1053662	NM_002047.4(GARS1):c.3G>T (p.Met1Ile)	GARS1 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1799772	NM_002047.4(GARS1):c.20T>G (p.Val7Gly)	GARS1 (V7G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1800402	NM_002047.4(GARS1):c.31G>A (p.Gly11Ser)	GARS1 (G11S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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)	not specified +1 more	GUncertain significance
Select item 3098599	NM_002047.4(GARS1):c.38G>C (p.Arg13Pro)	GARS1 (R13P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
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 476759	NM_002047.4(GARS1):c.47TGC[6] (p.Leu20dup)	GARS1	Microsatellite (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 416090	NM_002047.4(GARS1):c.51G>A (p.Leu17=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2 +2 more	GBenign/Likely benign
Select item 1203950	NM_002047.4(GARS1):c.59T>C (p.Leu20Pro)	GARS1 (L20P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 384840	NM_002047.4(GARS1):c.69G>A (p.Arg23=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
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 390140	NM_002047.4(GARS1):c.93G>A (p.Leu31=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1698077	NM_002047.4(GARS1):c.100C>T (p.Arg34Trp)	GARS1 (R34W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2411942	NM_002047.4(GARS1):c.104C>T (p.Ser35Phe)	GARS1 (S35F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3098592	NM_002047.4(GARS1):c.110G>T (p.Ser37Ile)	GARS1 (S37I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 585899	NM_002047.4(GARS1):c.144C>T (p.Ala48=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2 +2 more	GBenign/Likely benign
Select item 585900	NM_002047.4(GARS1):c.174G>A (p.Ala58=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 410313	NM_002047.4(GARS1):c.196C>T (p.Pro66Ser)	GARS1 (P66S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 3098596	NM_002047.4(GARS1):c.226G>A (p.Asp76Asn)	GARS1 (D22N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 188197	NM_002047.4(GARS1):c.236G>A (p.Arg79Gln)	GARS1 (R79Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 422016	NM_002047.4(GARS1):c.253A>G (p.Lys85Glu)	GARS1 (K85E +1 more)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy +5 more	GConflicting classifications of pathogenicity
Select item 410311	NM_002047.4(GARS1):c.262C>G (p.Gln88Glu)	GARS1 (Q88E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 360002	NM_002047.4(GARS1):c.270C>T (p.Asp90=)	GARS1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 2304021	NM_002047.4(GARS1):c.286G>A (p.Ala96Thr)	GARS1 (A96T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 665249	NM_002047.4(GARS1):c.301C>T (p.Arg101Cys)	GARS1 (R47C +1 more)	Single nucleotide variant (missense variant)	not specified +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)	Charcot-Marie-Tooth disease type 2D +5 more	GConflicting classifications of pathogenicity
Select item 1800219	NM_002047.4(GARS1):c.308G>C (p.Arg103Thr)	GARS1 (R103T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1008540	NM_002047.4(GARS1):c.325G>A (p.Glu109Lys)	GARS1 (E109K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 3098598	NM_002047.4(GARS1):c.331G>A (p.Ala111Thr)	GARS1 (A57T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 416091	NM_002047.4(GARS1):c.333G>A (p.Ala111=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 382658	NM_002047.4(GARS1):c.366A>G (p.Ala122=)	GARS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 208650	NM_002047.4(GARS1):c.373G>A (p.Glu125Lys)	GARS1 (E125K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 360003	NM_002047.4(GARS1):c.384G>A (p.Leu128=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2D +4 more	GConflicting classifications of pathogenicity
Select item 385077	NM_002047.4(GARS1):c.408A>G (p.Gln136=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 1799879	NM_002047.4(GARS1):c.460G>A (p.Gly154Ser)	GARS1 (G100S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 476758	NM_002047.4(GARS1):c.471G>C (p.Leu157Phe)	GARS1 (L157F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2545126	NM_002047.4(GARS1):c.481ATT[1] (p.Ile162del)	GARS1 (I108del +1 more)	Microsatellite (inframe_deletion +1 more)	not specified	GUncertain significance
Select item 390245	NM_002047.4(GARS1):c.492C>G (p.Thr164=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 390885	NM_002047.4(GARS1):c.531G>A (p.Glu177=)	GARS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1799918	NM_002047.4(GARS1):c.606G>A (p.Met202Ile)	GARS1 (M148I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1680910	NM_002047.4(GARS1):c.662A>G (p.His221Arg)	GARS1 (H167R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 512406	NM_002047.4(GARS1):c.675G>A (p.Leu225=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 1059548	NM_002047.4(GARS1):c.691T>G (p.Cys231Gly)	GARS1 (C177G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 360004	NM_002047.4(GARS1):c.699C>T (p.Val233=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2D +7 more	GBenign/Likely benign
Select item 2538525	NM_002047.4(GARS1):c.719A>G (p.Glu240Gly)	GARS1 (E240G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1038670	NM_002047.4(GARS1):c.719A>T (p.Glu240Val)	GARS1 (E240V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 942894	NM_002047.4(GARS1):c.722G>C (p.Ser241Thr)	GARS1 (S241T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1799753	NM_002047.4(GARS1):c.764C>G (p.Ala255Gly)	GARS1 (A201G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 360005	NM_002047.4(GARS1):c.764C>T (p.Ala255Val)	GARS1 (A255V +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 5A +5 more	GConflicting classifications of pathogenicity
Select item 360006	NM_002047.4(GARS1):c.765G>A (p.Ala255=)	GARS1	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 5A +5 more	GConflicting classifications of pathogenicity
Select item 476761	NM_002047.4(GARS1):c.782A>G (p.Tyr261Cys)	GARS1 (Y261C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2761153	NM_002047.4(GARS1):c.784A>G (p.Asn262Asp)	GARS1 (N208D +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 245853	NM_002047.4(GARS1):c.787G>A (p.Val263Ile)	GARS1 (V263I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 188100	NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)	GARS1 (T268I +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 5A +7 more	GBenign/Likely benign
Select item 258539	NM_002047.4(GARS1):c.816A>G (p.Leu272=)	GARS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 804828	NM_002047.4(GARS1):c.843G>A (p.Met281Ile)	GARS1 (M281I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 188141	NM_002047.4(GARS1):c.855C>G (p.Phe285Leu)	GARS1 (F285L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 9204	NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)	GARS1 (G240R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GPathogenic/Likely pathogenic
Select item 360009	NM_002047.4(GARS1):c.882-4A>G	GARS1	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 5A +4 more	GConflicting classifications of pathogenicity
Select item 431181	NM_002047.4(GARS1):c.929G>A (p.Arg310Gln)	GARS1 (R310Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444135	NM_002047.4(GARS1):c.1004C>T (p.Ser335Phe)	GARS1 (S281F +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1800084	NM_002047.4(GARS1):c.1010G>A (p.Arg337Gln)	GARS1 (R283Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 637502	NM_002047.4(GARS1):c.1031+1G>A	GARS1	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 360011	NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser)	GARS1 (N367S +1 more)	Single nucleotide variant (missense variant)	GARS1-related condition +6 more	GConflicting classifications of pathogenicity
Select item 648133	NM_002047.4(GARS1):c.1108G>C (p.Asp370His)	GARS1 (D316H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1680927	NM_002047.4(GARS1):c.1154A>G (p.Gln385Arg)	GARS1 (Q331R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 379179	NM_002047.4(GARS1):c.1158C>T (p.Ser386=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +3 more	GLikely benign
Select item 965772	NM_002047.4(GARS1):c.1162C>G (p.Arg388Gly)	GARS1 (R334G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 447371	NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys)	GARS1 (R391C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 834328	NM_002047.4(GARS1):c.1172G>A (p.Arg391His)	GARS1 (R391H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 567201	NM_002047.4(GARS1):c.1208A>G (p.Asn403Ser)	GARS1 (N403S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 577910	NM_002047.4(GARS1):c.1219G>A (p.Gly407Ser)	GARS1 (G407S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1939897	NM_002047.4(GARS1):c.1235G>A (p.Arg412His)	GARS1 (R358H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 3098593	NM_002047.4(GARS1):c.1243C>G (p.Leu415Val)	GARS1 (L361V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1799878	NM_002047.4(GARS1):c.1312G>A (p.Ala438Thr)	GARS1 (A384T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239082	NM_002047.4(GARS1):c.1372A>G (p.Ile458Val)	GARS1 (I404V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 410314	NM_002047.4(GARS1):c.1415A>G (p.His472Arg)	GARS1 (H472R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 360013	NM_002047.4(GARS1):c.1420C>A (p.Arg474=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2D +6 more	GBenign/Likely benign
Select item 1047140	NM_002047.4(GARS1):c.1451A>C (p.Lys484Thr)	GARS1 (K430T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 972132	NM_002047.4(GARS1):c.1454C>T (p.Pro485Leu)	GARS1 (P485L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 1800098	NM_002047.4(GARS1):c.1462G>T (p.Glu488Ter)	GARS1 (E434* +1 more)	Single nucleotide variant (nonsense)	not specified	GPathogenic
Select item 543209	NM_002047.4(GARS1):c.1534G>A (p.Ala512Thr)	GARS1 (A512T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 577795	NM_002047.4(GARS1):c.1543G>A (p.Val515Met)	GARS1 (V515M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 385218	NM_002047.4(GARS1):c.1578C>T (p.Tyr526=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 386355	NM_002047.4(GARS1):c.1614-4G>A	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +3 more	GBenign/Likely benign
Select item 998428	NM_002047.4(GARS1):c.1657A>G (p.Lys553Glu)	GARS1 (K499E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1680946	NM_002047.4(GARS1):c.1663A>G (p.Met555Val)	GARS1 (M501V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 834709	NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)	GARS1 (L511Q +1 more)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy +5 more	GConflicting classifications of pathogenicity
Select item 2538524	NM_002047.4(GARS1):c.1697A>G (p.Tyr566Cys)	GARS1 (Y566C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 194367	NM_002047.4(GARS1):c.1716G>A (p.Pro572=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2D +6 more	GConflicting classifications of pathogenicity
Select item 476753	NM_002047.4(GARS1):c.1719T>G (p.Asn573Lys)	GARS1 (N573K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 258534	NM_002047.4(GARS1):c.1737C>T (p.Phe579=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 2332339	NM_002047.4(GARS1):c.1748G>A (p.Arg583Lys)	GARS1 (R583K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 246215	NM_002047.4(GARS1):c.1754T>C (p.Met585Thr)	GARS1 (M585T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 447372	NM_002047.4(GARS1):c.1782T>C (p.His594=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 543210	NM_002047.4(GARS1):c.1784T>C (p.Val595Ala)	GARS1 (V595A +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 2544904	NM_002047.4(GARS1):c.1810-2A>T	GARS1	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 450493	NM_002047.4(GARS1):c.1828G>A (p.Val610Ile)	GARS1 (V610I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 216550	NM_002047.4(GARS1):c.1852G>A (p.Val618Ile)	GARS1 (V618I +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 500064	NM_002047.4(GARS1):c.1857C>T (p.Leu619=)	GARS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity

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