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	Gene Summary
	Translation studies in PubMed
	Exon Skipping Events
	Expression
	Expression Regulation
	Associated Genes
	Protein 3D Structure
	Protein-Protein Interaction
	Mutations
	Prognostic Analysis
	Gender Association
	Age Association
	Related Drugs
	Related Diseases

Translation Factor: GARS1 (NCBI Gene ID:2617)

Gene Summary

Gene Summary

Gene Information	Gene Name: GARS1
	Gene ID: 2617
	Gene Symbol	GARS1
	Gene ID	2617
	Gene Name	glycyl-tRNA synthetase 1
	Synonyms	CMT2D\|DSMAV\|GARS\|GlyRS\|HMN5\|SMAD1
	Cytomap	7p14.3
	Type of Gene	protein-coding
	Description	glycine--tRNA ligaseAP-4-A synthetaseCharcot-Marie-Tooth neuropathy 2DCharcot-Marie-Tooth neuropathy, neuronal type, Dap4A synthetasediadenosine tetraphosphate synthetase
	Modification date	20200328
	UniProtAcc	P41250

Child GO biological process term(s) under GO:0006412

GO ID	GO term
GO:0032543	Mitochondrial translation
GO:0006418	tRNA aminoacylation for protein translation
GO:0006412	Translation

Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	GARS1	GO:0015966	diadenosine tetraphosphate biosynthetic process	19710017

Inferred gene age of translation factor.

Gene

Inferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25

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Translation Studies in PubMed

We searched PubMed using 'GARS1[title] AND translation [title] AND human.'

Gene	Title	PMID
GARS1	.	.

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Exon Skipping Events

Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
For more annotations, please visit our ExonSkipDB.

Open reading frame (ORF) analsis of exon skipping events based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ENST

Exon skip start (DNA)

Exon Skip end (DNA)

ORF

Exon skipping position in the amino acid sequence.

ENST

Exon skip start (DNA)

Exon Skip end (DNA)

Len(transcript seq)

Exon skip start (mRNA)

Exon Skip end (mRNA)

Len(amino acid seq)

Exon skip start (AA)

Exon Skip end (AA)

Potentially (partially) lost protein functional features of UniProt.

UniProtAcc

Exon skip start (AA)

Exon Skip end (AA)

Function feature start (AA)

Function feature end (AA)

Functional feature type

Functional feature desc.

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Expression

Gene expression level across TCGA pancancer

Gene expression level across GTEx pantissue

Expression level of gene isoforms across TCGA pancancer

Expression level of gene isoforms across GTEx pantissue

Cancer(tissue) type-specific expression level of Translation factor using z-score distriution

Differential expression between tumor and matched normal (in the cancer types with more than 10 matched samples)

Cancer type

Translation factor

adj.pval

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Expression Regulation

Translation factor expression regulation through miRNA binding

Cancer type

Gene

miRNA

TargetScan binding score (Context++ score percentile)

Coefficient

Pvalue

Translation factor expression regulation through methylation in the promoter of Translation factor

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through methylation in the gene body of Translation factor (positive regulation)

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through copy number variation of Translation factor

Cancer type

Gene

Coefficient

Pvalue

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with GARS1 (coefficient>0.8, pval<0.05, node color based on FC between tumor and matched normal). Significantly associated important genes in the individual cancer types. * Cell metabolism gene: cell metabolism genes from REACTOME (black edge), IUPHAR: drug target genes from IUPHAR (blue edge), Kinase: human kinase genes (brown edge), CGC: cancer gene census genes (orange edge), TSG: tumor suppresor genes (purple edge), Epifactor: epigenetic factors (light blue edge), TF: transcription factors (green)

Cancer type

Gene group

Translation factor

Correlated gene

Coefficient

Pvalue

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Protein structure

Protein 3D structure
Visit iCn3D.

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Protein-Protein Interaction

Protein-protein interaction networks
* Overlap between up-regulated DEGs (log2FC<-1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

Overlap between down-regulated DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

* Edge colors based on TCGA cancer types.

* Overlap between DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network per cancer (center: Translation factor, node: DEGs, node color: log2FC, edges: weighted by -log2(adj.P))

Cancer type	Translation factor	Interacting protein coding gene	FC	adj.pval
STAD	GARS1	KARS	-2.30407630249645	0.00019507110118866
KICH	GARS1	NARS	1.07442061729154	0.000249803066253662
STAD	GARS1	YARS	-6.49411565641968	0.000280400272458792
KICH	GARS1	GPHN	1.21514370330135	0.000329077243804932
HNSC	GARS1	YARS	1.29642872422682	0.000481783007217019
STAD	GARS1	AARS	-1.37044043826934	0.000657554250210524
STAD	GARS1	EPRS	-1.48171581324647	0.000789262883452143
LUAD	GARS1	NARS	-1.22666458579243	0.00134906742748461
HNSC	GARS1	SARS	-1.91174328607452	0.00194819542025471
LUAD	GARS1	GPHN	1.09560265270315	0.0052524873451441
BLCA	GARS1	KARS	-1.18480170691913	0.0061798095703125
STAD	GARS1	TARS	-3.24156946700831	0.0105091729201376
CHOL	GARS1	IARS	-2.92341608141499	0.01171875
HNSC	GARS1	GARS	1.31758956739856	0.0139046201916244
COAD	GARS1	GPHN	1.12739382898492	0.0253507494926453
CHOL	GARS1	NARS	-7.86696864946951	0.0390625
THCA	GARS1	YARS	-1.52851760350795	1.38467683131598e-09
LIHC	GARS1	EPRS	-7.10731017811505	2.28054594243154e-08
KIRC	GARS1	NARS	-2.40040204492647	2.49674919862186e-10
KIRC	GARS1	TARSL2	1.99791676458958	2.81176802000473e-08
KICH	GARS1	YARS	-2.00632816869948	2.98023223876953e-07
LIHC	GARS1	IARS	-1.16847098939898	3.43009058766818e-06
BRCA	GARS1	YARS	-2.58863291399932	3.63754942015711e-21
THCA	GARS1	TARSL2	-1.17266819633566	4.01359461804685e-10
LUAD	GARS1	AARS	-6.1139400689607	4.40386642176516e-08
LIHC	GARS1	GPHN	-1.61896251285913	4.64150644319947e-09
KIRC	GARS1	TARS	-1.12274315049792	5.64962994208288e-07
LIHC	GARS1	NARS	-3.55177423456569	7.34047974405276e-07
THCA	GARS1	GARS	-1.56246373012062	8.23769499323433e-10
PRAD	GARS1	EPRS	-1.76339127457265	9.52775218277559e-05

Protein-protein interactors with this translation factor (BIOGRID-3.4.160)

PPI interactors with GARS1

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
GARS1	chr7	30634004	T	C	single_nucleotide_variant	Benign	not_provided
GARS1	chr7	30634092	T	C	single_nucleotide_variant	Likely_benign	not_provided
GARS1	chr7	30634120	T	A	single_nucleotide_variant	Benign	not_provided
GARS1	chr7	30634221	G	A	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|not_provided
GARS1	chr7	30634258	G	A	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy
GARS1	chr7	30634301	A	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy
GARS1	chr7	30634313	G	A	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|not_provided
GARS1	chr7	30634321	A	G	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|not_provided
GARS1	chr7	30634333	C	T	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|not_provided
GARS1	chr7	30634341	G	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy
GARS1	chr7	30634343	A	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy
GARS1	chr7	30634358	G	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634361	T	C	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634372	T	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634453	C	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634458	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634469	T	A	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634469	T	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634474	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634479	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634493	C	G	single_nucleotide_variant	not_provided	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634493	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634498	C	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634500	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634502	C	A	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634502	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634507	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634524	A	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634532	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease,_type_2\|not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634537	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634538	A	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634540	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634540	G	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634543	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634545	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634548	C	T	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_specified\|none_provided\|not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634549	G	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634555	A	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634556	G	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease\|Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634571	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634574	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634575	GC	CT	Indel	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634581	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease\|Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634582	T	TCTG	Microsatellite	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant	SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634582	T	TCTGCTG	Microsatellite	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant	SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634582	TCTG	T	Microsatellite	Benign	Charcot-Marie-Tooth_disease,_type_2\|not_specified\|not_provided	SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant	SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634583	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634588	G	A	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_specified\|not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634589	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634596	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634606	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	not_specified\|not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634606	G	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634609	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634627	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634630	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634630	G	C	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_specified\|not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634632	T	C	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634641	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634649	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634660	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634660	C	CG	Insertion	Uncertain_significance	Motor_neuron_disease	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634661	C	G	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|Spinal_muscular_atrophy,_infantile,_James_type\|not_specified\|not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634665	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634666	G	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634667	A	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634668	T	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634681	C	T	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634699	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
GARS1	chr7	30634700	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant
GARS1	chr7	30634711	G	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30634723	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30634724	G	GTGC	Duplication	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
GARS1	chr7	30634733	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30634744	A	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30634764	C	T	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30638108	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30638246	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30638280	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30638292	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30638416	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30638424	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
GARS1	chr7	30638425	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30638432	CAAAG	C	Deletion	Pathogenic	GARS-associated_growth_retardation_and_developmental_delay	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
GARS1	chr7	30638442	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30638451	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30638453	A	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30638459	C	T	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30638460	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30638470	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30638471	A	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30638490	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease\|Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30638491	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30638491	G	T	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30638494	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30638498	G	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30638502	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30638516	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30638772	T	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30639271	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30639554	C	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30639554	C	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30639563	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30639570	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_type_2D\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30639571	G	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30639582	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30639590	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30639591	T	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30639604	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30639611	G	A	single_nucleotide_variant	Pathogenic	Spinal_muscular_atrophy,_infantile,_James_type\|Inborn_genetic_diseases	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30639611	G	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30639612	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30639615	A	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30639622	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30639639	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30639641	G	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30639646	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease\|Charcot-Marie-Tooth_disease,_type_2\|not_specified\|none_provided\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30639656	A	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30639665	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30639841	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30640355	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30640498	CT	C	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30640536	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30640658	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30640662	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30640682	T	C	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30640693	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30640697	T	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30640702	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30640718	G	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30640725	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30640739	C	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30640754	T	C	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30640778	G	A	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30640779	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30640784	T	C	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30640789	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30640794	C	T	single_nucleotide_variant	Uncertain_significance	Distal_spinal_muscular_atrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30640795	T	C	single_nucleotide_variant	Pathogenic	Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30640804	AG	GC	Indel	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30640809	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30640824	C	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30640989	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30642499	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30642577	ATTATC	A	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30642658	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30642662	T	C	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30642678	G	A	single_nucleotide_variant	Likely_pathogenic	Charcot-Marie-Tooth_disease\|Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30642678	G	T	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease_type_2D	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30642695	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30642696	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30642711	T	C	single_nucleotide_variant	Likely_pathogenic	Charcot-Marie-Tooth_disease\|Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30642718	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30642723	G	C	single_nucleotide_variant	Likely_pathogenic	Neuronopathy,_distal_hereditary_motor,_type_5A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30642727	A	G	single_nucleotide_variant	Likely_pathogenic	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30642752	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30643069	C	A	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Spinal_muscular_atrophy,_infantile,_James_type\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30643121	A	G	single_nucleotide_variant	Uncertain_significance	GARS1-related_neuropathies\|Charcot-Marie-Tooth_disease,_type_2\|GARS-Associated_Axonal_Neuropathy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30643122	G	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30643124	A	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30643128	G	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30643136	A	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30643144	T	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30643145	GT	G	Deletion	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
GARS1	chr7	30643152	C	T	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30643153	G	A	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30643158	G	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30643164	A	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30643172	A	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30643172	A	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30643175	G	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30643175	G	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30643176	T	C	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30643186	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30649202	T	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30649212	T	C	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30649215	A	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30649222	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30649224	A	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30649229	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30649229	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30649230	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30649231	G	C	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|none_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30649245	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30649247	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30649251	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30649252	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30649253	TAAA	T	Deletion	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
GARS1	chr7	30649259	C	A	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease_type_2D	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30649259	C	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Charcot-Marie-Tooth_disease\|Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30649260	T	TC	Duplication	Uncertain_significance	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
GARS1	chr7	30649268	C	T	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_specified\|none_provided\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30649269	T	C	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30649280	T	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30649281	A	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease\|Charcot-Marie-Tooth_disease,_type_2\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30649283	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30649302	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30649307	T	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30649308	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30649320	C	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30649320	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30649331	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30649340	T	C	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30649340	T	G	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30649345	G	C	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease_type_2D\|Charcot-Marie-Tooth_disease\|Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30649363	G	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30649416	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30649586	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30649636	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30651697	T	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30651708	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30651713	T	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30651723	C	T	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30651759	G	A	single_nucleotide_variant	Pathogenic	GARS-associated_growth_retardation_and_developmental_delay	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30651809	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30651809	G	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30651810	G	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30651828	A	C	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30651828	A	G	single_nucleotide_variant	Uncertain_significance	Hereditary_motor_neuron_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30651828	A	T	single_nucleotide_variant	Likely_pathogenic	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30651830	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30651830	A	T	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30651831	T	A	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Charcot-Marie-Tooth_disease_type_2D\|Charcot-Marie-Tooth_disease,_type_2\|Spinal_muscular_atrophy,_infantile,_James_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30651831	T	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30651831	T	G	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30651832	C	G	single_nucleotide_variant	Uncertain_significance	See_cases	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30651836	C	T	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30651837	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30651839	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001587\|nonsense	SO:0001587\|nonsense
GARS1	chr7	30651862	G	A	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
GARS1	chr7	30651869	TC	T	Deletion	Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30651875	T	G	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30651938	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30652090	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30655363	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30655489	A	T	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30655497	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30655498	G	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30655514	A	G	single_nucleotide_variant	Likely_pathogenic	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30655539	C	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30655539	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30655542	T	C	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30655567	C	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30655572	G	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30655580	A	G	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30655588	G	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30655603	T	C	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30655618	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30655620	C	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30655623	G	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30655629	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30655635	G	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30655638	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease\|Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30655639	G	A	single_nucleotide_variant	Uncertain_significance	See_cases\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30655642	C	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30655642	C	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30655642	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30655643	G	A	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30655650	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30655651	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30655651	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease\|Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30655652	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30655661	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30655666	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30655668	T	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30655677	A	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30655886	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30656650	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30656683	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30656733	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30656743	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30656754	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30656760	T	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30656769	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30656780	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30656788	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30656817	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30656818	G	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30656824	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30656826	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30656831	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30656850	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30656872	A	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30656894	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30656895	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
GARS1	chr7	30656991	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30657193	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30660662	TTTTC	T	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30660670	CT	C	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30660674	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30660938	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30661036	G	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30661048	T	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30661052	A	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30661056	C	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30661063	C	CA	Duplication	Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
GARS1	chr7	30661064	A	G	single_nucleotide_variant	Pathogenic	Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30661069	C	A	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30661070	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30661075	A	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30661077	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30661078	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30661100	A	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30661103	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30661229	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30661446	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30661648	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30661927	T	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30661932	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
GARS1	chr7	30661943	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30661952	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30661960	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30661962	C	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30661976	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30661983	G	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30661993	A	C	single_nucleotide_variant	Uncertain_significance	Distal_spinal_muscular_atrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30661999	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30662008	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30662016	G	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30662018	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease,_type_2\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30662033	A	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30662038	T	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30662039	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30662043	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30662046	T	C	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30662057	A	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30662077	G	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30662085	T	C	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30662087	T	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30662087	T	C	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30662174	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30662237	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30662266	CT	C	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30665579	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30665846	G	A	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30665846	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease\|Charcot-Marie-Tooth_disease,_type_2\|Charcot-Marie-Tooth_disease,_type_I\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30665858	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30665860	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30665879	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30665880	A	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30665893	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30665896	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30665930	T	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30665941	T	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30666220	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30668091	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30668131	T	C	single_nucleotide_variant	Benign/Likely_benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30668159	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30668163	A	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30668163	A	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30668175	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
GARS1	chr7	30668181	G	A	single_nucleotide_variant	Likely_pathogenic	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30668184	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30668191	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30668192	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30668195	T	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30668200	T	C	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30668205	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30668213	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease\|Charcot-Marie-Tooth_disease,_type_2\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30668214	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30668219	G	C	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30668222	T	C	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30668227	T	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2\|GARS-Associated_Axonal_Neuropathy\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30668230	T	C	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30668231	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30668236	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30668237	G	A	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30668240	A	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30668246	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30668255	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30668258	T	C	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30668260	T	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30668263	GAGA	G	Deletion	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
GARS1	chr7	30668282	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30668286	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease\|Charcot-Marie-Tooth_disease,_type_2	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
GARS1	chr7	30668289	AGTT	A	Microsatellite	Uncertain_significance	Charcot-Marie-Tooth_disease_type_5	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30668293	G	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30668293	G	C	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30668298	G	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30668299	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30668301	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30670865	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30670957	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30671071	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30671082	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30671083	T	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30671087	T	C	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30671090	T	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30671104	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30671105	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30671106	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30671111	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30671113	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30671835	T	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30671843	AC	A	Deletion	Likely_benign	Charcot-Marie-Tooth_disease\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30671844	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30671845	T	C	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30671860	T	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30671863	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Charcot-Marie-Tooth_disease_type_2D\|Charcot-Marie-Tooth_disease\|Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30671864	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease\|Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30671880	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30671882	T	C	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30671886	G	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30671888	A	G	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30671913	G	C	single_nucleotide_variant	Pathogenic	Spinal_muscular_atrophy,_infantile,_James_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30671914	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Autosomal_dominant_distal_hereditary_motor_neuropathy\|Spinal_muscular_atrophy,_infantile,_James_type	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30671915	G	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30671921	C	T	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30671928	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30671936	C	T	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30671950	T	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30671950	T	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30671951	T	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30671955	G	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30671967	G	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30671973	A	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30671974	T	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30672001	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30672003	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease\|Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30672023	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30672024	C	G	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30672024	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30672182	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30672329	A	AC	Insertion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30672330	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30673345	C	T	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|Spinal_muscular_atrophy,_infantile,_James_type\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GARS1	chr7	30673352	T	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30673364	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30673377	A	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30673401	A	G	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Charcot-Marie-Tooth_disease\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30673415	A	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30673433	T	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30673446	G	A	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease,_type_2\|not_specified\|none_provided\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30673461	G	A	single_nucleotide_variant	Likely_benign	Charcot-Marie-Tooth_disease,_type_2	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30673462	A	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30673467	C	T	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
GARS1	chr7	30673468	G	A	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
GARS1	chr7	30673476	A	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_type_2	SO:0001578\|stop_lost	SO:0001578\|stop_lost
GARS1	chr7	30673511	AT	A	Deletion	Likely_benign	Peripheral_axonal_neuropathy\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
GARS1	chr7	30673512	T	TA	Duplication	Likely_benign	not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
GARS1	chr7	30673512	TA	T	Deletion	Conflicting_interpretations_of_pathogenicity	Peripheral_axonal_neuropathy\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
GARS1	chr7	30673512	TAA	T	Deletion	Conflicting_interpretations_of_pathogenicity	Peripheral_axonal_neuropathy\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2\|not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
GARS1	chr7	30673543	C	G	single_nucleotide_variant	Benign/Likely_benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy\|not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
GARS1	chr7	30673549	A	G	single_nucleotide_variant	Benign	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
GARS1	chr7	30673620	AC	A	Deletion	Likely_benign	Peripheral_axonal_neuropathy\|Distal_spinal_muscular_atrophy\|Charcot-Marie-Tooth_disease,_type_2	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
GARS1	chr7	30673621	C	A	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease_type_2D\|Neuronopathy,_distal_hereditary_motor,_type_5A\|Distal_spinal_muscular_atrophy	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
GARS1	chr7	30673780	A	G	single_nucleotide_variant	Benign	not_provided
GARS1	chr7	30673804	C	T	single_nucleotide_variant	Likely_benign	not_provided

nsSNVs with sample frequency (size of circle) from TCGA 33 cancers.

SNVs and Indels

Gene

Cancer type

Chromosome

Start

End

RefSeeq

MutSeq

Mutation type

AAchange

# samples

Copy number variation (CNV) of GARS1
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across GARS1
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion genes with this translation factor from FusionGDB2.0.

FusionGDB2 ID

Disease

Sample

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

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Prognostic Analysis

Kaplan-Meier plots with logrank tests of overall survival (OS)

Cancer type

Translation factor

Coefficent

Hazard ratio

Wald test pval

Likelihool ratio pval

Logrank test pval

# samples

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Translation factor and Gender

Differential gene expression between female and male. (Wilcoxon test, pval<0.05)

Cancer type

Translation factor

pval

adj.p

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Translation factor and Age

Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05)

Cancer type

Translation factor

pval

adj.p

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Related Drugs

Drugs targeting genes involved in this translation factor.
(DrugBank Version 5.1.8 2021-05-08)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C1832274	Charcot-Marie-Tooth disease, Type 2D	9	CTD_human;UNIPROT
C1833308	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	5	CTD_human;ORPHANET;UNIPROT