GARS1 (glycyl-tRNA synthetase 1) - Rat Genome Database

Name: GARS1
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: GARS1 (glycyl-tRNA synthetase 1) Homo sapiens

Analyze

Symbol:

GARS1

Name:

glycyl-tRNA synthetase 1

RGD ID:

1317292

HGNC Page

HGNC:4162

Description:

Enables several functions, including bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity; glycine-tRNA ligase activity; and identical protein binding activity. Involved in diadenosine tetraphosphate biosynthetic process and tRNA aminoacylation for protein translation. Located in axon and cytosol. Implicated in Charcot-Marie-Tooth disease type 2D and autosomal dominant distal hereditary motor neuronopathy 5.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

AP-4-A synthetase; ap4A synthetase; Charcot-Marie-Tooth neuropathy 2D; Charcot-Marie-Tooth neuropathy, neuronal type, D; CMT2D; diadenosine tetraphosphate synthetase; DSMAV; GARS; glycine tRNA ligase; glycine--tRNA ligase; glycyl-tRNA synthetase; GlyRS; HMN5; HMN5A; HMND5; SMAD1; SMAJI

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Gars1 (glycyl-tRNA synthetase 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Gars1 (glycyl-tRNA synthetase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Gars1 (glycyl-tRNA synthetase 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	GARS1 (glycyl-tRNA synthetase 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	GARS1 (glycyl-tRNA synthetase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Gars1 (glycyl-tRNA synthetase 1)	NCBI	Ortholog
Sus scrofa (pig):	GARS1 (glycyl-tRNA synthetase 1)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	GARS1 (glycyl-tRNA synthetase 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Gars1 (glycyl-tRNA synthetase 1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Gars1 (glycyl-tRNA synthetase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Gars1 (glycyl-tRNA synthetase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	gars (glycyl-tRNA synthetase)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	GRS1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	GlyRS	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	gars-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	GRS2	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	gars1	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	gars1.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	gars1.L	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

GARS1P1

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	30,594,735 - 30,634,033 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	30,580,533 - 30,634,033 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	30,634,351 - 30,673,649 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	30,600,706 - 30,640,174 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	7	30,407,420 - 30,446,884	NCBI
Celera	7	30,623,360 - 30,662,827 (+)	NCBI		Celera
Cytogenetic Map	7	p14.3	NCBI
HuRef	7	30,516,030 - 30,555,489 (+)	NCBI		HuRef
CHM1_1	7	30,634,438 - 30,673,905 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	7	30,732,340 - 30,771,637 (+)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	30,683,834 - 30,723,301 (+)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autosomal dominant distal hereditary motor neuronopathy (IAGP)

autosomal dominant distal hereditary motor neuronopathy 14 (IAGP)

autosomal dominant distal hereditary motor neuronopathy 5 (EXP,IAGP)

axonal neuropathy (IAGP)

Charcot-Marie-Tooth disease (IAGP)

Charcot-Marie-Tooth disease type 1 (IAGP)

Charcot-Marie-Tooth disease type 2 (IAGP)

Charcot-Marie-Tooth disease type 2D (EXP,IAGP,ISS)

Ehlers-Danlos syndrome kyphoscoliotic type 2 (IAGP)

genetic disease (IAGP)

motor neuron disease (IAGP)

pleomorphic xanthoastrocytoma (IAGP)

spinal muscular atrophy (IAGP)

Spinal Muscular Atrophy, Infantile, James Type (IAGP)

Talipes Cavus (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(1->4)-beta-D-glucan (ISO)

1,2-dimethylhydrazine (ISO)

1-chloro-2,4-dinitrobenzene (EXP)

1-naphthyl isothiocyanate (ISO)

1-nitropyrene (EXP)

17beta-estradiol (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

3-chloropropane-1,2-diol (ISO)

4,4'-sulfonyldiphenol (EXP)

4-amino-2,6-dinitrotoluene (ISO)

6-propyl-2-thiouracil (ISO)

acrylamide (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

allethrin (ISO)

amitrole (ISO)

aristolochic acid A (EXP)

arsenous acid (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

bexarotene (EXP)

bisphenol A (EXP,ISO)

Bisphenol B (EXP)

bucladesine (EXP)

buspirone (ISO)

cadmium dichloride (EXP,ISO)

captan (ISO)

carbamazepine (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

chloroacetaldehyde (EXP)

chloropicrin (EXP)

chlorpyrifos (ISO)

cidofovir anhydrous (EXP)

cisplatin (EXP)

clobetasol (ISO)

clodronic acid (EXP)

clofibric acid (ISO)

copper(II) sulfate (EXP)

cyclosporin A (EXP,ISO)

cyhalothrin (ISO)

cypermethrin (ISO)

diarsenic trioxide (EXP)

diclofenac (EXP,ISO)

dioxygen (EXP,ISO)

disodium selenite (EXP)

dorsomorphin (EXP)

enzyme inhibitor (EXP)

fenofibrate (EXP)

fenthion (ISO)

fenvalerate (ISO)

finasteride (ISO)

flutamide (ISO)

folic acid (ISO)

folpet (ISO)

FR900359 (EXP)

fumonisin B1 (ISO)

gefitinib (EXP)

ifosfamide (EXP)

ivermectin (EXP)

L-ascorbic acid (EXP)

lamivudine (EXP)

leflunomide (EXP)

lipopolysaccharide (EXP)

medroxyprogesterone acetate (EXP)

metformin (ISO)

methidathion (ISO)

methimazole (ISO)

methylmercury chloride (EXP)

N(4)-hydroxycytidine (ISO)

N,N-diethyl-m-toluamide (ISO)

N-methyl-4-phenylpyridinium (EXP,ISO)

N-nitrosodiethylamine (ISO)

nefazodone (ISO)

ochratoxin A (EXP)

omega-6 fatty acid (EXP)

p-chloromercuribenzoic acid (EXP)

paracetamol (EXP)

paraquat (ISO)

pentachlorophenol (ISO)

perfluorooctane-1-sulfonic acid (EXP,ISO)

perfluorooctanoic acid (EXP,ISO)

permethrin (ISO)

phenobarbital (EXP,ISO)

progesterone (EXP)

pyrethrins (ISO)

resveratrol (EXP)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

SB 431542 (EXP)

sodium arsenite (EXP)

sulfadimethoxine (ISO)

sulforaphane (EXP)

sulindac sulfide (EXP)

sunitinib (EXP)

tert-butyl hydroperoxide (ISO)

tetrachloroethene (ISO)

tetrachloromethane (ISO)

thapsigargin (EXP,ISO)

triadimefon (ISO)

trichloroethene (ISO)

trovafloxacin (ISO)

tunicamycin (EXP)

urethane (EXP)

ursodeoxycholic acid (EXP)

valproic acid (EXP,ISO)

zearalenone (ISO)

zidovudine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

diadenosine tetraphosphate biosynthetic process (IDA)

glycyl-tRNA aminoacylation (IEA,ISO)

mitochondrial glycyl-tRNA aminoacylation (IBA)

translation (IEA)

tRNA aminoacylation for protein translation (IEA,IMP)

Cellular Component

axon (IDA,IEA)

cell projection (IEA)

cytoplasm (IBA,IEA,TAS)

cytosol (IDA,TAS)

extracellular exosome (IEA,ISS)

extracellular region (IEA)

mitochondrial matrix (TAS)

mitochondrion (IBA,IEA)

secretory granule (IEA)

Molecular Function

aminoacyl-tRNA ligase activity (IEA)

ATP binding (IEA)

bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity (IDA)

glycine-tRNA ligase activity (IBA,IDA,IEA,IMP)

hydrolase activity (IEA)

identical protein binding (IEA,IPI)

ligase activity (IEA)

protein binding (IPI)

protein dimerization activity (IDA)

transferase activity (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

dihydropyrimidine dehydrogenase deficiency pathway (EXP)

dimethylglycine dehydrogenase deficiency pathway (EXP)

nonketotic hyperglycinemia pathway (EXP)

sarcosinemia pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal motor nerve conduction velocity (IAGP)

Areflexia (IAGP)

Autosomal dominant inheritance (IAGP)

Cold-induced hand cramps (IAGP)

Delayed ability to walk (IAGP)

Distal amyotrophy (IAGP)

Distal lower limb muscle weakness (IAGP)

Distal muscle weakness (IAGP)

Distal sensory impairment (IAGP)

First dorsal interossei muscle atrophy (IAGP)

First dorsal interossei muscle weakness (IAGP)

Generalized hypotonia (IAGP)

Hammertoe (IAGP)

Hip contracture (IAGP)

Hyperreflexia (IAGP)

Hyporeflexia (IAGP)

Impaired vibratory sensation (IAGP)

Increased variability in muscle fiber diameter (IAGP)

Infantile onset (IAGP)

Lower limb muscle weakness (IAGP)

Lumbar hyperlordosis (IAGP)

Motor delay (IAGP)

Motor polyneuropathy (IAGP)

Muscle fibrillation (IAGP)

Muscle weakness (IAGP)

Peripheral axonal neuropathy (IAGP)

Peripheral neuropathy (IAGP)

Pes cavus (IAGP)

Pes planus (IAGP)

Pes valgus (IAGP)

Pleomorphic xanthoastrocytoma (IAGP)

Postural instability (IAGP)

Respiratory insufficiency (IAGP)

Scoliosis (IAGP)

Short stature (IAGP)

Slowly progressive (IAGP)

Thenar muscle atrophy (IAGP)

Thenar muscle weakness (IAGP)

Tip-toe gait (IAGP)

Type 1 muscle fiber predominance (IAGP)

Unsteady gait (IAGP)

Upper limb amyotrophy (IAGP)

Upper limb muscle weakness (IAGP)

Weak voice (IAGP)

Young adult onset (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Localization of two human autoantigen genes by PCR screening and in situ hybridization--glycyl-tRNA synthetase locates to 7p15 and alanyl-tRNA synthetase locates to 16q22.	Nichols RC, etal., Genomics 1995 Nov 1;30(1):131-2.
3.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
4.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
5.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
7.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:7539919	PMID:7753621	PMID:7961834	PMID:7962006	PMID:8816763	PMID:8872480	PMID:9524218	PMID:11829477	PMID:12477932	PMID:12690205	PMID:12690580	PMID:12853948
PMID:14744259	PMID:15452148	PMID:15489334	PMID:16169070	PMID:16344560	PMID:16534118	PMID:17035524	PMID:17101916	PMID:17142907	PMID:17544401	PMID:17545306	PMID:17595294
PMID:18029348	PMID:18275849	PMID:19329989	PMID:19412816	PMID:19710017	PMID:20301420	PMID:20301462	PMID:20301484	PMID:20301532	PMID:20360068	PMID:20877624	PMID:21145461
PMID:21319273	PMID:21873635	PMID:21988832	PMID:22079093	PMID:22144914	PMID:22268729	PMID:22345558	PMID:22863883	PMID:22939629	PMID:23125841	PMID:23279345	PMID:23376485
PMID:24508626	PMID:24778252	PMID:24807208	PMID:24898252	PMID:25168514	PMID:25218976	PMID:25277244	PMID:25737280	PMID:25756610	PMID:25921289	PMID:25972375	PMID:26000875
PMID:26138142	PMID:26186194	PMID:26244500	PMID:26327585	PMID:26344197	PMID:26465331	PMID:26618866	PMID:26638075	PMID:26797133	PMID:26816005	PMID:26831064	PMID:27008886
PMID:27025967	PMID:27173435	PMID:27261259	PMID:27342126	PMID:27348078	PMID:27684187	PMID:27862672	PMID:28302793	PMID:28514442	PMID:28515276	PMID:28581483	PMID:28675565
PMID:28835631	PMID:28902428	PMID:29229926	PMID:29331416	PMID:29415205	PMID:29467282	PMID:29507755	PMID:29509794	PMID:29564676	PMID:29648643	PMID:29676528	PMID:29791485
PMID:29845934	PMID:30425250	PMID:30463901	PMID:30575818	PMID:30619736	PMID:30669930	PMID:30711629	PMID:30809309	PMID:30948266	PMID:31091453	PMID:31173493	PMID:31300519
PMID:31343991	PMID:31586073	PMID:31871319	PMID:31985473	PMID:32176628	PMID:32176739	PMID:32181591	PMID:32628020	PMID:32687490	PMID:32707033	PMID:32807901	PMID:32814053
PMID:32850835	PMID:32877691	PMID:32929329	PMID:33022573	PMID:33060197	PMID:33226137	PMID:33545068	PMID:33827397	PMID:33961781	PMID:34079125	PMID:34299191	PMID:34373451
PMID:34403468	PMID:34445801	PMID:34591612	PMID:34709727	PMID:34732716	PMID:35007762	PMID:35013218	PMID:35256949	PMID:35271987	PMID:35332613	PMID:35384245	PMID:35446349
PMID:35509820	PMID:35523311	PMID:35546148	PMID:35562734	PMID:35676659	PMID:35831314	PMID:35944360	PMID:35973989	PMID:36114006	PMID:36180891	PMID:36215168	PMID:36244648
PMID:36261009	PMID:36424410	PMID:36526897	PMID:36901698	PMID:37827155	PMID:37827278	PMID:38113892

Genomics

Comparative Map Data

GARS1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	30,594,735 - 30,634,033 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	30,580,533 - 30,634,033 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	30,634,351 - 30,673,649 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	30,600,706 - 30,640,174 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	7	30,407,420 - 30,446,884	NCBI
Celera	7	30,623,360 - 30,662,827 (+)	NCBI		Celera
Cytogenetic Map	7	p14.3	NCBI
HuRef	7	30,516,030 - 30,555,489 (+)	NCBI		HuRef
CHM1_1	7	30,634,438 - 30,673,905 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	7	30,732,340 - 30,771,637 (+)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	30,683,834 - 30,723,301 (+)	NCBI

Gars1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	55,014,986 - 55,056,489 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	55,014,992 - 55,056,485 (+)	Ensembl		GRCm39 Ensembl
GRCm38	6	55,038,001 - 55,079,504 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	55,038,007 - 55,079,500 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	54,987,995 - 55,029,498 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	54,967,598 - 55,009,078 (+)	NCBI		MGSCv36	mm8
Celera	6	55,573,683 - 55,614,743 (+)	NCBI		Celera
Cytogenetic Map	6	B3	NCBI
cM Map	6	27.29	NCBI

Gars1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	4	85,484,939 - 85,542,876 (+)	NCBI		GRCr8
mRatBN7.2	4	84,171,596 - 84,212,609 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	84,171,596 - 84,212,609 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	4	89,394,653 - 89,435,634 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	4	85,170,068 - 85,211,053 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	4	83,582,545 - 83,623,437 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	4	85,235,122 - 85,276,085 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	85,235,172 - 85,276,044 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	149,884,600 - 149,933,329 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	83,718,584 - 83,759,591 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	4	84,123,817 - 84,165,539 (-)	NCBI
Celera	4	79,038,903 - 79,079,749 (+)	NCBI		Celera
Cytogenetic Map	4	q24	NCBI

Gars1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955410	31,779,543 - 31,819,113 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955410	31,778,654 - 31,819,287 (+)	NCBI	ChiLan1.0	ChiLan1.0

GARS1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	6	35,406,501 - 35,445,814 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	7	83,731,131 - 83,770,542 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	7	31,208,351 - 31,247,841 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	7	31,329,572 - 31,368,719 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	7	31,329,456 - 31,368,582 (+)	Ensembl	panpan1.1		panPan2

GARS1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	14	43,308,274 - 43,351,999 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	14	43,308,152 - 43,396,487 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	14	42,741,012 - 42,784,674 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	14	43,249,452 - 43,293,125 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	14	43,249,308 - 43,295,729 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	14	43,365,329 - 43,408,974 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	14	43,041,322 - 43,084,982 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	14	43,402,683 - 43,446,352 (+)	NCBI		UU_Cfam_GSD_1.0

Gars1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	87,636,717 - 87,677,496 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936478	6,848,322 - 6,889,045 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936478	6,848,448 - 6,889,103 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GARS1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	18	42,311,576 - 42,352,162 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	18	42,311,711 - 42,352,201 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	18	46,675,442 - 46,768,505 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

GARS1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	21	27,750,532 - 27,791,143 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	21	27,749,514 - 27,790,881 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666042	76,909,963 - 76,953,465 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Gars1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624739	171,777 - 211,164 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624739	172,111 - 211,229 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in GARS1
700 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_002047.4(GARS1):c.1006C>T (p.Pro336Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002231201]\|not specified [RCV000517313]	Chr7:30612220 [GRCh38] Chr7:30651836 [GRCh37] Chr7:7p14.3	likely pathogenic\|uncertain significance
NM_002047.4(GARS1):c.302G>T (p.Arg101Leu)	single nucleotide variant	not specified [RCV000518315]	Chr7:30598875 [GRCh38] Chr7:30638491 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.38_39delinsCT (p.Arg13Pro)	indel	Charcot-Marie-Tooth disease type 2 [RCV000554132]	Chr7:30594959..30594960 [GRCh38] Chr7:30634575..30634576 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.700G>A (p.Glu234Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000531785]\|Charcot-Marie-Tooth disease type 2D [RCV001162461]\|Distal spinal muscular atrophy [RCV001160837]\|Neuronopathy, distal hereditary motor, type 5A [RCV001162460]	Chr7:30603537 [GRCh38] Chr7:30643153 [GRCh37] Chr7:7p14.3	benign\|likely benign\|uncertain significance
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000789773]\|Charcot-Marie-Tooth disease type 2 [RCV000529259]\|Charcot-Marie-Tooth disease type 2D [RCV001542256]\|Distal spinal muscular atrophy [RCV000790255]\|Neuronopathy, distal hereditary motor, type 5 [RCV003447145]\|Neuronopathy, distal hereditary motor, type 5A [RCV001770486]\|not provided [RCV000992024]	Chr7:30612214 [GRCh38] Chr7:30651830 [GRCh37] Chr7:7p14.3	pathogenic\|uncertain significance\|not provided
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000789778]\|Charcot-Marie-Tooth disease type 2 [RCV000653904]\|Charcot-Marie-Tooth disease type 2D [RCV003447142]\|Inborn genetic diseases [RCV002461270]\|not provided [RCV001591166]	Chr7:30616035 [GRCh38] Chr7:30655651 [GRCh37] Chr7:7p14.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002047.4(GARS1):c.866G>A (p.Gly289Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000545734]	Chr7:30609715 [GRCh38] Chr7:30649331 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1782T>C (p.His594=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001406551]\|Inborn genetic diseases [RCV002461271]\|not provided [RCV000516468]	Chr7:30628642 [GRCh38] Chr7:30668258 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.186G>C (p.Glu62Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002231638]\|not provided [RCV000520564]	Chr7:30595107 [GRCh38] Chr7:30634723 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.235C>T (p.Arg79Ter)	single nucleotide variant	not provided [RCV000579209]	Chr7:30598808 [GRCh38] Chr7:30638424 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1719T>G (p.Asn573Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000525304]\|Inborn genetic diseases [RCV002526741]	Chr7:30628579 [GRCh38] Chr7:30668195 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000789142]\|Charcot-Marie-Tooth disease type 2 [RCV000692132]\|Charcot-Marie-Tooth disease type 2D [RCV000009782]\|not provided [RCV000327196]	Chr7:30609729 [GRCh38] Chr7:30649345 [GRCh37] Chr7:7p14.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000857175]\|Charcot-Marie-Tooth disease type 2D [RCV003332077]\|Neuronopathy, distal hereditary motor, type 5A [RCV000009783]\|not provided [RCV001310958]	Chr7:30601179 [GRCh38] Chr7:30640795 [GRCh37] Chr7:7p14.3	pathogenic\|uncertain significance\|not provided
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000790253]\|Charcot-Marie-Tooth disease type 2D [RCV000009784]\|Neuronopathy, distal hereditary motor, type 5A [RCV001260976]	Chr7:30599996 [GRCh38] Chr7:30639612 [GRCh37] Chr7:7p14.3	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002228024]\|Charcot-Marie-Tooth disease type 2D [RCV001542258]\|Distal spinal muscular atrophy [RCV000790258]\|Neuronopathy, distal hereditary motor, type 5A [RCV000009786]	Chr7:30628598 [GRCh38] Chr7:30668214 [GRCh37] Chr7:7p14.3	pathogenic\|uncertain significance\|not provided
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000790257]\|Charcot-Marie-Tooth disease type 2D [RCV000009787]\|Distal spinal muscular atrophy [RCV001161100]\|Neuronopathy, distal hereditary motor, type 5A [RCV000009788]	Chr7:30626280 [GRCh38] Chr7:30665896 [GRCh37] Chr7:7p14.3	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV000009789]	Chr7:30612107 [GRCh38] Chr7:30651723 [GRCh37] Chr7:7p14.3	pathogenic\|conflicting interpretations of pathogenicity\|not provided
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	copy number gain	See cases [RCV000051159]	Chr7:54185..41875885 [GRCh38] Chr7:54185..41915483 [GRCh37] Chr7:149268..41882008 [NCBI36] Chr7:7p22.3-14.1	pathogenic
GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3	copy number gain	See cases [RCV000051178]	Chr7:30420933..34560665 [GRCh38] Chr7:30460549..34600277 [GRCh37] Chr7:30427074..34566802 [NCBI36] Chr7:7p14.3	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1	copy number loss	See cases [RCV000052250]	Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	copy number gain	See cases [RCV000053530]	Chr7:54185..37089712 [GRCh38] Chr7:54185..37129317 [GRCh37] Chr7:149268..37095842 [NCBI36] Chr7:7p22.3-14.2	pathogenic
NM_002047.2(GARS):c.1087C>T (p.Pro363Ser)	single nucleotide variant	Malignant melanoma [RCV000067841]	Chr7:30615951 [GRCh38] Chr7:30655567 [GRCh37] Chr7:30622092 [NCBI36] Chr7:7p14.3	not provided
NM_002047.4(GARS1):c.222+5C>T	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172991]\|Charcot-Marie-Tooth disease type 2 [RCV000260650]\|Charcot-Marie-Tooth disease type 2D [RCV000576643]\|Charcot-Marie-Tooth disease type 2D [RCV001095272]\|Distal spinal muscular atrophy [RCV000297278]\|Neuronopathy, distal hereditary motor, type 5A [RCV000360161]\|not provided [RCV000676706]\|not specified [RCV000125197]	Chr7:30595148 [GRCh38] Chr7:30634764 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1062T>C (p.Phe354=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172986]\|Charcot-Marie-Tooth disease type 2 [RCV000469432]\|Charcot-Marie-Tooth disease type 2D [RCV001095197]\|Distal spinal muscular atrophy [RCV000264143]\|Neuronopathy, distal hereditary motor, type 5A [RCV000365571]\|not provided [RCV000676708]\|not specified [RCV000125198]	Chr7:30615926 [GRCh38] Chr7:30655542 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1613+9T>C	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172987]\|Charcot-Marie-Tooth disease type 2 [RCV000469840]\|Charcot-Marie-Tooth disease type 2D [RCV001095200]\|Distal spinal muscular atrophy [RCV000302067]\|Neuronopathy, distal hereditary motor, type 5A [RCV000403415]\|not provided [RCV000676709]\|not specified [RCV000125199]	Chr7:30622471 [GRCh38] Chr7:30662087 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1833T>C (p.Val611=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172988]\|Charcot-Marie-Tooth disease type 2 [RCV000467861]\|Charcot-Marie-Tooth disease type 2D [RCV001095283]\|Distal spinal muscular atrophy [RCV000277139]\|Neuronopathy, distal hereditary motor, type 5A [RCV000387889]\|not provided [RCV000676710]\|not specified [RCV000125200]	Chr7:30631471 [GRCh38] Chr7:30671087 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.2145A>G (p.Thr715=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172989]\|Charcot-Marie-Tooth disease type 2 [RCV000457879]\|Charcot-Marie-Tooth disease type 2D [RCV001095203]\|Distal spinal muscular atrophy [RCV000393378]\|Neuronopathy, distal hereditary motor, type 5A [RCV000371197]\|not provided [RCV000676712]\|not specified [RCV000125201]	Chr7:30633785 [GRCh38] Chr7:30673401 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.93G>C (p.Leu31=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172990]\|Charcot-Marie-Tooth disease type 2 [RCV000308833]\|Charcot-Marie-Tooth disease type 2D [RCV000576836]\|Charcot-Marie-Tooth disease type 2D [RCV001095192]\|Distal spinal muscular atrophy [RCV000343793]\|Neuronopathy, distal hereditary motor, type 5A [RCV000394879]\|not provided [RCV000676704]\|not specified [RCV000125202]	Chr7:30595014 [GRCh38] Chr7:30634630 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.373G>A (p.Glu125Lys)	single nucleotide variant	Inborn genetic diseases [RCV000190657]\|Spinal muscular atrophy, infantile, James type [RCV001260977]	Chr7:30599995 [GRCh38] Chr7:30639611 [GRCh37] Chr7:7p14.3	pathogenic
NM_002047.4(GARS1):c.95T>C (p.Leu32Pro)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000201927]	Chr7:30595016 [GRCh38] Chr7:30634632 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1614-4G>C	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172982]\|Charcot-Marie-Tooth disease type 2 [RCV001088850]\|Charcot-Marie-Tooth disease, type I [RCV000857179]\|not provided [RCV000724419]	Chr7:30626230 [GRCh38] Chr7:30665846 [GRCh37] Chr7:7p14.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002047.4(GARS1):c.1716G>A (p.Pro572=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001174152]\|Charcot-Marie-Tooth disease type 2 [RCV001517036]\|Charcot-Marie-Tooth disease type 2D [RCV000340411]\|Distal spinal muscular atrophy [RCV000396920]\|Inborn genetic diseases [RCV002460952]\|Neuronopathy, distal hereditary motor, type 5A [RCV000305473]\|not provided [RCV000724402]\|not specified [RCV000174724]	Chr7:30628576 [GRCh38] Chr7:30668192 [GRCh37] Chr7:7p14.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	copy number loss	See cases [RCV000135401]	Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	copy number loss	See cases [RCV000136775]	Chr7:20561456..32005143 [GRCh38] Chr7:20601079..32044755 [GRCh37] Chr7:20567604..32011280 [NCBI36] Chr7:7p21.1-14.3	pathogenic
GRCh38/hg38 7p14.3(chr7:30621519-31115117)x3	copy number gain	See cases [RCV000139419]	Chr7:30621519..31115117 [GRCh38] Chr7:30661135..31154731 [GRCh37] Chr7:30627660..31121256 [NCBI36] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000790259]\|Charcot-Marie-Tooth disease type 2 [RCV000860828]\|Charcot-Marie-Tooth disease type 2D [RCV000191089]\|Inborn genetic diseases [RCV002460966]	Chr7:30632247 [GRCh38] Chr7:30671863 [GRCh37] Chr7:7p14.3	pathogenic\|benign\|likely benign\|uncertain significance
NM_002047.4(GARS1):c.855C>G (p.Phe285Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000168016]\|Inborn genetic diseases [RCV002460946]	Chr7:30609704 [GRCh38] Chr7:30649320 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.236G>A (p.Arg79Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000168116]\|Inborn genetic diseases [RCV002460947]\|not provided [RCV001288968]	Chr7:30598809 [GRCh38] Chr7:30638425 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.1568A>T (p.Asp523Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000168384]	Chr7:30622417 [GRCh38] Chr7:30662033 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001174150]\|Charcot-Marie-Tooth disease type 2 [RCV000167950]\|Charcot-Marie-Tooth disease type 2D [RCV001095276]\|Distal spinal muscular atrophy [RCV000273181]\|GARS1-related condition [RCV003917573]\|Inborn genetic diseases [RCV002460945]\|Neuronopathy, distal hereditary motor, type 5A [RCV000321274]\|not provided [RCV000676707]\|not specified [RCV000179842]	Chr7:30609652 [GRCh38] Chr7:30649268 [GRCh37] Chr7:7p14.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_002047.4(GARS1):c.1761G>A (p.Thr587=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173311]\|Charcot-Marie-Tooth disease type 2 [RCV000459965]\|Charcot-Marie-Tooth disease type 2D [RCV001095238]\|Distal spinal muscular atrophy [RCV000299292]\|Neuronopathy, distal hereditary motor, type 5A [RCV000260476]\|not provided [RCV000711740]\|not specified [RCV000432353]	Chr7:30628621 [GRCh38] Chr7:30668237 [GRCh37] Chr7:7p14.3	benign\|likely benign
GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	copy number loss	See cases [RCV000240125]	Chr7:22935369..32621975 [GRCh37] Chr7:7p15.3-14.3	pathogenic
NM_002047.4(GARS1):c.*73A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV000356930]\|Distal spinal muscular atrophy [RCV000262114]\|Neuronopathy, distal hereditary motor, type 5A [RCV000311375]	Chr7:30633933 [GRCh38] Chr7:30673549 [GRCh37] Chr7:7p14.3	benign\|likely benign
NM_002047.4(GARS1):c.998A>T (p.Glu333Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV000195583]	Chr7:30612212 [GRCh38] Chr7:30651828 [GRCh37] Chr7:7p14.3	likely pathogenic
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000196909]\|Charcot-Marie-Tooth disease type 2D [RCV001095174]\|Distal spinal muscular atrophy [RCV000290713]\|Inborn genetic diseases [RCV002460982]\|Neuronopathy, distal hereditary motor, type 5A [RCV000382756]\|Tip-toe gait [RCV002227458]\|not provided [RCV001509304]	Chr7:30631490 [GRCh38] Chr7:30671106 [GRCh37] Chr7:7p14.3	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002047.4(GARS1):c.1962C>T (p.Ile654=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001174160]\|Charcot-Marie-Tooth disease type 2 [RCV000204574]\|Charcot-Marie-Tooth disease type 2D [RCV001095175]\|Distal spinal muscular atrophy [RCV000404976]\|GARS1-related condition [RCV003891775]\|Inborn genetic diseases [RCV002460985]\|Neuronopathy, distal hereditary motor, type 5A [RCV000297480]\|not provided [RCV000711741]	Chr7:30632305 [GRCh38] Chr7:30671921 [GRCh37] Chr7:7p14.3	benign\|likely benign
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172992]\|Charcot-Marie-Tooth disease type 2 [RCV000205776]\|Charcot-Marie-Tooth disease type 2D [RCV001095191]\|Distal spinal muscular atrophy [RCV000387797]\|Neuronopathy, distal hereditary motor, type 5A [RCV000349184]\|not provided [RCV000676703]\|not specified [RCV000244545]	Chr7:30594932 [GRCh38] Chr7:30634548 [GRCh37] Chr7:7p14.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_002047.4(GARS1):c.1751T>A (p.Ile584Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000204008]\|GARS-Associated Axonal Neuropathy [RCV001249739]\|not provided [RCV000236935]	Chr7:30628611 [GRCh38] Chr7:30668227 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1790_1792del (p.Glu597del)	deletion	Charcot-Marie-Tooth disease type 2 [RCV000235806]	Chr7:30628648..30628650 [GRCh38] Chr7:30668264..30668266 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.227A>G (p.Asp76Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003105832]\|not provided [RCV000227814]	Chr7:30598800 [GRCh38] Chr7:30638416 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1779C>A (p.Phe593Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000235398]\|not provided [RCV003328312]	Chr7:30628639 [GRCh38] Chr7:30668255 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.302G>A (p.Arg101His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000526782]\|Charcot-Marie-Tooth disease type 2D [RCV001095168]\|Distal spinal muscular atrophy [RCV000276269]\|Inborn genetic diseases [RCV002461029]\|Neuronopathy, distal hereditary motor, type 5A [RCV000333675]\|not provided [RCV000235455]	Chr7:30598875 [GRCh38] Chr7:30638491 [GRCh37] Chr7:7p14.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002047.4(GARS1):c.787G>A (p.Val263Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001080429]\|Inborn genetic diseases [RCV003165659]\|not provided [RCV000585481]	Chr7:30609636 [GRCh38] Chr7:30649252 [GRCh37] Chr7:7p14.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002047.4(GARS1):c.1754T>C (p.Met585Thr)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000857180]\|Charcot-Marie-Tooth disease type 2 [RCV002518450]\|Inborn genetic diseases [RCV002461033]\|not provided [RCV000235889]	Chr7:30628614 [GRCh38] Chr7:30668230 [GRCh37] Chr7:7p14.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002047.4(GARS1):c.1359+1G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743689]\|not provided [RCV000236152]	Chr7:30617279 [GRCh38] Chr7:30656895 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1643C>G (p.Thr548Arg)	single nucleotide variant	not provided [RCV000236153]	Chr7:30626263 [GRCh38] Chr7:30665879 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.3G>A (p.Met1Ile)	single nucleotide variant	not provided [RCV000236169]	Chr7:30594924 [GRCh38] Chr7:30634540 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.305A>G (p.Lys102Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002229802]\|Charcot-Marie-Tooth disease type 2D [RCV001808665]\|not provided [RCV000236202]	Chr7:30598878 [GRCh38] Chr7:30638494 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000236620]\|Charcot-Marie-Tooth disease type 2D [RCV000660607]\|Inborn genetic diseases [RCV002461039]	Chr7:30632385 [GRCh38] Chr7:30672001 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1087C>G (p.Pro363Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000546580]	Chr7:30615951 [GRCh38] Chr7:30655567 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.*145del	deletion	Charcot-Marie-Tooth disease type 2 [RCV000317074]\|Distal spinal muscular atrophy [RCV000267949]\|Peripheral axonal neuropathy [RCV000353217]	Chr7:30634005 [GRCh38] Chr7:30673621 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1031+14T>G	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001174151]\|Charcot-Marie-Tooth disease type 2 [RCV002229952]\|Charcot-Marie-Tooth disease type 2D [RCV000397515]\|Distal spinal muscular atrophy [RCV000350297]\|Neuronopathy, distal hereditary motor, type 5A [RCV000293057]\|not provided [RCV001197208]\|not specified [RCV000244025]	Chr7:30612259 [GRCh38] Chr7:30651875 [GRCh37] Chr7:7p14.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_002047.4(GARS1):c.2095-6C>T	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172985]\|Charcot-Marie-Tooth disease type 2 [RCV000367864]\|Charcot-Marie-Tooth disease type 2D [RCV001095202]\|Distal spinal muscular atrophy [RCV000393359]\|Neuronopathy, distal hereditary motor, type 5A [RCV000301521]\|Spinal muscular atrophy, infantile, James type [RCV001701814]\|not provided [RCV000676711]\|not specified [RCV000241978]	Chr7:30633729 [GRCh38] Chr7:30673345 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172984]\|Charcot-Marie-Tooth disease type 2 [RCV000340289]\|Charcot-Marie-Tooth disease type 2D [RCV000986124]\|Distal spinal muscular atrophy [RCV000305283]\|Neuronopathy, distal hereditary motor, type 5A [RCV000396526]\|Spinal muscular atrophy, infantile, James type [RCV001701897]\|not provided [RCV000676705]\|not specified [RCV000249303]	Chr7:30595045 [GRCh38] Chr7:30634661 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.747T>C (p.Tyr249=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173310]\|Charcot-Marie-Tooth disease type 2 [RCV000472548]\|Charcot-Marie-Tooth disease type 2D [RCV001095229]\|Distal spinal muscular atrophy [RCV000406043]\|Neuronopathy, distal hereditary motor, type 5A [RCV000286418]\|not provided [RCV000711745]\|not specified [RCV000247260]	Chr7:30609596 [GRCh38] Chr7:30649212 [GRCh37] Chr7:7p14.3	benign\|likely benign
NM_002047.4(GARS1):c.1032-23A>T	single nucleotide variant	not provided [RCV000833463]\|not specified [RCV000249597]	Chr7:30615873 [GRCh38] Chr7:30655489 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1737C>T (p.Phe579=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172981]\|Charcot-Marie-Tooth disease type 2 [RCV000654001]\|Inborn genetic diseases [RCV002461045]\|not specified [RCV000249723]	Chr7:30628597 [GRCh38] Chr7:30668213 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.816A>G (p.Leu272=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172975]\|Charcot-Marie-Tooth disease type 2 [RCV000871962]\|Inborn genetic diseases [RCV002461046]\|not specified [RCV000252217]	Chr7:30609665 [GRCh38] Chr7:30649281 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.659-43C>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV001701963]\|Neuronopathy, distal hereditary motor, type 5A [RCV001702392]\|Spinal muscular atrophy, infantile, James type [RCV001701964]\|not provided [RCV001636769]\|not specified [RCV000242683]	Chr7:30603453 [GRCh38] Chr7:30643069 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1700-45T>C	single nucleotide variant	not provided [RCV001689834]\|not specified [RCV000245167]	Chr7:30628515 [GRCh38] Chr7:30668131 [GRCh37] Chr7:7p14.3	benign\|likely benign
NM_002047.4(GARS1):c.1904-28T>G	single nucleotide variant	not specified [RCV000245473]	Chr7:30632219 [GRCh38] Chr7:30671835 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.2(GARS1):c.-225G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV000362552]\|Distal spinal muscular atrophy [RCV000276196]\|Neuronopathy, distal hereditary motor, type 5A [RCV000326537]\|not provided [RCV000835078]	Chr7:30594697 [GRCh38] Chr7:30634313 [GRCh37] Chr7:7p14.3	benign\|likely benign
NM_002047.2(GARS1):c.-217A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV000377503]\|Distal spinal muscular atrophy [RCV000327678]\|Neuronopathy, distal hereditary motor, type 5A [RCV000272557]\|not provided [RCV000835479]	Chr7:30594705 [GRCh38] Chr7:30634321 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.782A>G (p.Tyr261Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000552423]\|Inborn genetic diseases [RCV002527934]	Chr7:30609631 [GRCh38] Chr7:30649247 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001027470]\|Charcot-Marie-Tooth disease type 2 [RCV000558968]\|Charcot-Marie-Tooth disease type 2D [RCV001095236]\|Distal spinal muscular atrophy [RCV000267692]\|GARS1-related condition [RCV003922595]\|Inborn genetic diseases [RCV002461112]\|Neuronopathy, distal hereditary motor, type 5A [RCV000302958]\|not provided [RCV001171985]	Chr7:30615964 [GRCh38] Chr7:30655580 [GRCh37] Chr7:7p14.3	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002047.4(GARS1):c.1923T>C (p.His641=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002229983]\|Charcot-Marie-Tooth disease type 2D [RCV000377015]\|Distal spinal muscular atrophy [RCV000284611]\|Inborn genetic diseases [RCV002461114]\|Neuronopathy, distal hereditary motor, type 5A [RCV000341937]\|not specified [RCV000441181]	Chr7:30632266 [GRCh38] Chr7:30671882 [GRCh37] Chr7:7p14.3	benign\|likely benign
NM_002047.4(GARS1):c.882-15T>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002229909]\|Charcot-Marie-Tooth disease type 2D [RCV000324356]\|Distal spinal muscular atrophy [RCV000372565]\|Neuronopathy, distal hereditary motor, type 5A [RCV000285735]\|not provided [RCV000443897]	Chr7:30612081 [GRCh38] Chr7:30651697 [GRCh37] Chr7:7p14.3	benign\|likely benign\|uncertain significance
NM_002047.4(GARS1):c.766G>C (p.Asp256His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002229908]\|Charcot-Marie-Tooth disease type 2D [RCV000326925]\|Distal spinal muscular atrophy [RCV000269576]\|Neuronopathy, distal hereditary motor, type 5A [RCV000365389]\|not provided [RCV001810861]	Chr7:30609615 [GRCh38] Chr7:30649231 [GRCh37] Chr7:7p14.3	benign\|likely benign\|uncertain significance
NM_002047.4(GARS1):c.*36del	deletion	Charcot-Marie-Tooth disease type 2 [RCV000372789]\|Distal spinal muscular atrophy [RCV000286409]\|Peripheral axonal neuropathy [RCV000315872]	Chr7:30633896 [GRCh38] Chr7:30673512 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.2(GARS1):c.-69T>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV000272059]\|Distal spinal muscular atrophy [RCV000307187]\|Neuronopathy, distal hereditary motor, type 5A [RCV000366668]	Chr7:30594853 [GRCh38] Chr7:30634469 [GRCh37] Chr7:7p14.3	benign\|likely benign
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001236217]\|Charcot-Marie-Tooth disease type 2D [RCV000351179]\|Distal spinal muscular atrophy [RCV000389357]\|Neuronopathy, distal hereditary motor, type 5A [RCV000289117]\|not provided [RCV002512088]	Chr7:30622327 [GRCh38] Chr7:30661943 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.1809+14T>C	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172977]\|Charcot-Marie-Tooth disease type 2 [RCV002229910]\|Charcot-Marie-Tooth disease type 2D [RCV000273382]\|Distal spinal muscular atrophy [RCV000331028]\|Neuronopathy, distal hereditary motor, type 5A [RCV000356395]\|not specified [RCV000417980]	Chr7:30628683 [GRCh38] Chr7:30668299 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.50_51del	deletion	Charcot-Marie-Tooth disease type 2 [RCV000290501]\|Distal spinal muscular atrophy [RCV000345466]\|Peripheral axonal neuropathy [RCV000398108]\|not provided [RCV001541692]	Chr7:30633897..30633898 [GRCh38] Chr7:30673513..30673514 [GRCh37] Chr7:7p14.3	benign\|uncertain significance
NM_002047.4(GARS1):c.-36C>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV000323662]\|Distal spinal muscular atrophy [RCV000260270]\|Neuronopathy, distal hereditary motor, type 5A [RCV000373642]	Chr7:30594886 [GRCh38] Chr7:30634502 [GRCh37] Chr7:7p14.3	benign\|likely benign
NM_002047.4(GARS1):c.765G>A (p.Ala255=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000654009]\|Charcot-Marie-Tooth disease type 2D [RCV001095275]\|Distal spinal muscular atrophy [RCV000312217]\|Inborn genetic diseases [RCV002461110]\|Neuronopathy, distal hereditary motor, type 5A [RCV000369316]\|not provided [RCV001310959]	Chr7:30609614 [GRCh38] Chr7:30649230 [GRCh37] Chr7:7p14.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173309]\|Charcot-Marie-Tooth disease type 2 [RCV000473112]\|Charcot-Marie-Tooth disease type 2D [RCV001095281]\|Distal spinal muscular atrophy [RCV000372862]\|Neuronopathy, distal hereditary motor, type 5A [RCV000261919]\|not provided [RCV000514172]\|not specified [RCV000429266]	Chr7:30616027 [GRCh38] Chr7:30655643 [GRCh37] Chr7:7p14.3	benign\|likely benign
NM_002047.4(GARS1):c.1420C>A (p.Arg474=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172973]\|Charcot-Marie-Tooth disease type 2 [RCV000543260]\|Charcot-Marie-Tooth disease type 2D [RCV001095171]\|Distal spinal muscular atrophy [RCV000293996]\|Inborn genetic diseases [RCV002461113]\|Neuronopathy, distal hereditary motor, type 5A [RCV000385710]\|not provided [RCV001310960]\|not specified [RCV000431646]	Chr7:30621453 [GRCh38] Chr7:30661069 [GRCh37] Chr7:7p14.3	benign\|likely benign
NM_002047.2(GARS1):c.-237A>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV000401567]\|Distal spinal muscular atrophy [RCV000370855]\|Neuronopathy, distal hereditary motor, type 5A [RCV000312605]	Chr7:30594685 [GRCh38] Chr7:30634301 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.-36C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV000320030]\|Distal spinal muscular atrophy [RCV000294293]\|Neuronopathy, distal hereditary motor, type 5A [RCV000374690]	Chr7:30594886 [GRCh38] Chr7:30634502 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.270C>T (p.Asp90=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172970]\|Charcot-Marie-Tooth disease type 2 [RCV000653962]\|Charcot-Marie-Tooth disease type 2D [RCV001095273]\|Distal spinal muscular atrophy [RCV000356715]\|Inborn genetic diseases [RCV002461107]\|Neuronopathy, distal hereditary motor, type 5A [RCV000331266]\|not provided [RCV001706596]\|not specified [RCV000517420]	Chr7:30598843 [GRCh38] Chr7:30638459 [GRCh37] Chr7:7p14.3	benign\|likely benign
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001444766]\|Charcot-Marie-Tooth disease type 2D [RCV000263932]\|Distal spinal muscular atrophy [RCV000321466]\|Inborn genetic diseases [RCV002461116]\|Neuronopathy, distal hereditary motor, type 5A [RCV000378574]\|not provided [RCV000711744]	Chr7:30633852 [GRCh38] Chr7:30673468 [GRCh37] Chr7:7p14.3	benign\|likely benign
NM_002047.2(GARS1):c.-205C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV000378526]\|Distal spinal muscular atrophy [RCV000264303]\|Neuronopathy, distal hereditary motor, type 5A [RCV000323967]\|not provided [RCV000833952]	Chr7:30594717 [GRCh38] Chr7:30634333 [GRCh37] Chr7:7p14.3	benign\|likely benign
NM_002047.4(GARS1):c.*67C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV000315038]\|Distal spinal muscular atrophy [RCV000369733]\|Neuronopathy, distal hereditary motor, type 5A [RCV000398117]\|not provided [RCV001548551]	Chr7:30633927 [GRCh38] Chr7:30673543 [GRCh37] Chr7:7p14.3	benign\|likely benign
NM_002047.4(GARS1):c.882-4A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000534444]\|Charcot-Marie-Tooth disease type 2D [RCV001095169]\|Distal spinal muscular atrophy [RCV000337635]\|Inborn genetic diseases [RCV002461111]\|Neuronopathy, distal hereditary motor, type 5A [RCV000280343]\|not specified [RCV000516665]	Chr7:30612092 [GRCh38] Chr7:30651708 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.2(GARS1):c.-177T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV000397449]\|Distal spinal muscular atrophy [RCV000280608]\|Neuronopathy, distal hereditary motor, type 5A [RCV000349610]\|not provided [RCV001560364]	Chr7:30594745 [GRCh38] Chr7:30634361 [GRCh37] Chr7:7p14.3	benign\|likely benign
NM_002047.2(GARS1):c.-317G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV000393393]\|Distal spinal muscular atrophy [RCV000356830]\|Neuronopathy, distal hereditary motor, type 5A [RCV000297344]\|not provided [RCV000836041]	Chr7:30594605 [GRCh38] Chr7:30634221 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.764C>T (p.Ala255Val)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001174144]\|Charcot-Marie-Tooth disease type 2 [RCV000544393]\|Charcot-Marie-Tooth disease type 2D [RCV001095230]\|Distal spinal muscular atrophy [RCV000393447]\|Inborn genetic diseases [RCV003278789]\|Neuronopathy, distal hereditary motor, type 5A [RCV000356639]\|not specified [RCV000444686]	Chr7:30609613 [GRCh38] Chr7:30649229 [GRCh37] Chr7:7p14.3	benign\|likely benign\|uncertain significance
NM_002047.4(GARS1):c.699C>T (p.Val233=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001174154]\|Charcot-Marie-Tooth disease type 2 [RCV000464662]\|Charcot-Marie-Tooth disease type 2D [RCV001095193]\|Distal spinal muscular atrophy [RCV000340497]\|GARS1-related condition [RCV003972514]\|Inborn genetic diseases [RCV002461109]\|Neuronopathy, distal hereditary motor, type 5A [RCV000384504]\|not provided [RCV001718778]\|not specified [RCV000417484]	Chr7:30603536 [GRCh38] Chr7:30643152 [GRCh37] Chr7:7p14.3	benign\|likely benign
NM_002047.4(GARS1):c.2211C>T (p.Ile737=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002229984]\|Charcot-Marie-Tooth disease type 2D [RCV000365639]\|Distal spinal muscular atrophy [RCV000327357]\|Inborn genetic diseases [RCV002461115]\|Neuronopathy, distal hereditary motor, type 5A [RCV000269679]	Chr7:30633851 [GRCh38] Chr7:30673467 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.*51del	deletion	Charcot-Marie-Tooth disease type 2 [RCV000406647]\|Distal spinal muscular atrophy [RCV000338090]\|Peripheral axonal neuropathy [RCV000280689]\|not provided [RCV001541049]	Chr7:30633897 [GRCh38] Chr7:30673513 [GRCh37] Chr7:7p14.3	benign\|uncertain significance
NM_002047.4(GARS1):c.786T>C (p.Asn262=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001504447]\|not provided [RCV000325759]	Chr7:30609635 [GRCh38] Chr7:30649251 [GRCh37] Chr7:7p14.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002047.2(GARS1):c.-197G>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV000374899]\|Distal spinal muscular atrophy [RCV000279444]\|Neuronopathy, distal hereditary motor, type 5A [RCV000334520]	Chr7:30594725 [GRCh38] Chr7:30634341 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.2(GARS1):c.-59C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV000358630]\|Distal spinal muscular atrophy [RCV000268618]\|Neuronopathy, distal hereditary motor, type 5A [RCV000303812]	Chr7:30594863 [GRCh38] Chr7:30634479 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1360-322del	deletion	not provided [RCV001548115]	Chr7:30621055 [GRCh38] Chr7:30660671 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.163A>G (p.Met55Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001347311]\|not provided [RCV000523629]	Chr7:30595084 [GRCh38] Chr7:30634700 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1991T>G (p.Ile664Ser)	single nucleotide variant	not provided [RCV000488410]	Chr7:30632334 [GRCh38] Chr7:30671950 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.-31C>A	single nucleotide variant	not provided [RCV000490192]	Chr7:30594891 [GRCh38] Chr7:30634507 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.2(GARS1):c.-80C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV000397425]\|Distal spinal muscular atrophy [RCV000351571]\|Neuronopathy, distal hereditary motor, type 5A [RCV000315375]	Chr7:30594842 [GRCh38] Chr7:30634458 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1059C>G (p.His353Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV000315411]\|Distal spinal muscular atrophy [RCV000362284]\|Neuronopathy, distal hereditary motor, type 5A [RCV000397519]	Chr7:30615923 [GRCh38] Chr7:30655539 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1828G>A (p.Val610Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001430883]\|Inborn genetic diseases [RCV002461273]\|not provided [RCV000521333]	Chr7:30631466 [GRCh38] Chr7:30671082 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.384G>A (p.Leu128=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001440748]\|Charcot-Marie-Tooth disease type 2D [RCV000289034]\|Distal spinal muscular atrophy [RCV000327743]\|Inborn genetic diseases [RCV002461108]\|Neuronopathy, distal hereditary motor, type 5A [RCV000381200]	Chr7:30600006 [GRCh38] Chr7:30639622 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.675G>A (p.Leu225=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000862583]\|Inborn genetic diseases [RCV002461924]\|not specified [RCV000605862]	Chr7:30603512 [GRCh38] Chr7:30643128 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.2015T>C (p.Ile672Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000550518]	Chr7:30632358 [GRCh38] Chr7:30671974 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.90C>T (p.Leu30=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001089151]\|Inborn genetic diseases [RCV002461137]\|not provided [RCV000415883]	Chr7:30595011 [GRCh38] Chr7:30634627 [GRCh37] Chr7:7p14.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002047.4(GARS1):c.1282C>T (p.Arg428Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000535318]	Chr7:30617201 [GRCh38] Chr7:30656817 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.344A>G (p.Lys115Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000541670]	Chr7:30599966 [GRCh38] Chr7:30639582 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.798dup (p.Ile267fs)	duplication	not provided [RCV000732577]	Chr7:30609644..30609645 [GRCh38] Chr7:30649260..30649261 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1421G>A (p.Arg474Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000560477]	Chr7:30621454 [GRCh38] Chr7:30661070 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1977C>T (p.Ala659=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000538022]\|Inborn genetic diseases [RCV002461365]	Chr7:30632320 [GRCh38] Chr7:30671936 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.875T>G (p.Met292Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000558281]	Chr7:30609724 [GRCh38] Chr7:30649340 [GRCh37] Chr7:7p14.3	pathogenic
NM_002047.4(GARS1):c.471G>C (p.Leu157Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000538443]\|Inborn genetic diseases [RCV002526742]\|not provided [RCV000998783]	Chr7:30601102 [GRCh38] Chr7:30640718 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1613+7T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000549311]	Chr7:30622469 [GRCh38] Chr7:30662085 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1553A>G (p.Tyr518Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001439803]\|not provided [RCV000863606]\|not specified [RCV000414190]	Chr7:30622402 [GRCh38] Chr7:30662018 [GRCh37] Chr7:7p14.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records
TMEM106B-BRAF fusion	deletion	Pleomorphic xanthoastrocytoma [RCV000454357]	Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34	pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	copy number gain	See cases [RCV000446478]	Chr7:11562624..36395416 [GRCh37] Chr7:7p21.3-14.2	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1	copy number loss	See cases [RCV000446044]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_002047.4(GARS1):c.531G>A (p.Glu177=)	single nucleotide variant	Inborn genetic diseases [RCV002461181]\|not provided [RCV000904584]\|not specified [RCV000420708]	Chr7:30601162 [GRCh38] Chr7:30640778 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1578C>T (p.Tyr526=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000867773]\|Inborn genetic diseases [RCV002461157]\|not provided [RCV001698125]	Chr7:30622427 [GRCh38] Chr7:30662043 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.408A>G (p.Gln136=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172979]\|Charcot-Marie-Tooth disease type 2 [RCV001087196]\|GARS1-related condition [RCV003970177]\|Inborn genetic diseases [RCV002461156]\|not provided [RCV000487956]\|not specified [RCV000421000]	Chr7:30600030 [GRCh38] Chr7:30639646 [GRCh37] Chr7:7p14.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002047.4(GARS1):c.1032-15C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002230272]\|not specified [RCV000431320]	Chr7:30615881 [GRCh38] Chr7:30655497 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.69G>A (p.Arg23=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002521702]\|Inborn genetic diseases [RCV002461154]\|not provided [RCV000512778]\|not specified [RCV000418046]	Chr7:30594990 [GRCh38] Chr7:30634606 [GRCh37] Chr7:7p14.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002047.4(GARS1):c.1700-17T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002522672]\|not specified [RCV000424532]	Chr7:30628543 [GRCh38] Chr7:30668159 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1158C>T (p.Ser386=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172980]\|Charcot-Marie-Tooth disease type 2 [RCV000653970]\|Inborn genetic diseases [RCV002461141]\|not provided [RCV001720009]	Chr7:30616022 [GRCh38] Chr7:30655638 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.93G>A (p.Leu31=)	single nucleotide variant	Inborn genetic diseases [RCV002461178]\|not specified [RCV000432073]	Chr7:30595014 [GRCh38] Chr7:30634630 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.492C>G (p.Thr164=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001457880]\|Inborn genetic diseases [RCV002461179]\|not provided [RCV001698267]	Chr7:30601123 [GRCh38] Chr7:30640739 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.2190G>A (p.Glu730=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001086535]\|GARS1-related condition [RCV003897845]\|Inborn genetic diseases [RCV002461140]\|not provided [RCV000711743]\|not specified [RCV000421886]	Chr7:30633830 [GRCh38] Chr7:30673446 [GRCh37] Chr7:7p14.3	benign\|likely benign
NM_002047.4(GARS1):c.638G>A (p.Arg213His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743724]\|not provided [RCV000419741]	Chr7:30603102 [GRCh38] Chr7:30642718 [GRCh37] Chr7:7p14.3	uncertain significance
GRCh37/hg19 7p14.3(chr7:30404217-30782235)x3	copy number gain	See cases [RCV000445921]	Chr7:30404217..30782235 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1614-4G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001089217]\|GARS1-related condition [RCV003959943]\|Inborn genetic diseases [RCV002461162]\|not provided [RCV000862776]\|not specified [RCV000422839]	Chr7:30626230 [GRCh38] Chr7:30665846 [GRCh37] Chr7:7p14.3	benign\|likely benign
NM_002047.4(GARS1):c.366A>G (p.Ala122=)	single nucleotide variant	Inborn genetic diseases [RCV002461149]\|not specified [RCV000426395]	Chr7:30599988 [GRCh38] Chr7:30639604 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.428-17C>T	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001174157]\|Charcot-Marie-Tooth disease type 2 [RCV002230000]\|not specified [RCV000430371]	Chr7:30601042 [GRCh38] Chr7:30640658 [GRCh37] Chr7:7p14.3	likely benign
GRCh37/hg19 7p14.3(chr7:30673441-31154672)x3	copy number gain	See cases [RCV000447844]	Chr7:30673441..31154672 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1415A>G (p.His472Arg)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000789777]\|Charcot-Marie-Tooth disease type 2 [RCV000459084]\|Charcot-Marie-Tooth disease type 2D [RCV003332179]\|Distal spinal muscular atrophy [RCV000790256]\|Inborn genetic diseases [RCV002461198]\|Neuronopathy, distal hereditary motor, type 5A [RCV000664213]	Chr7:30621448 [GRCh38] Chr7:30661064 [GRCh37] Chr7:7p14.3	pathogenic\|uncertain significance\|not provided
NM_002047.4(GARS1):c.1904-19del	deletion	Charcot-Marie-Tooth disease [RCV001172976]\|Charcot-Marie-Tooth disease type 2 [RCV002526584]\|not specified [RCV000483821]	Chr7:30632228 [GRCh38] Chr7:30671844 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1624A>G (p.Ile542Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000466974]	Chr7:30626244 [GRCh38] Chr7:30665860 [GRCh37] Chr7:7p14.3	uncertain significance
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	copy number gain	See cases [RCV000512091]	Chr7:11048840..52863626 [GRCh37] Chr7:7p21.3-12.1	pathogenic
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000460329]\|Charcot-Marie-Tooth disease type 2D [RCV000764711]\|Inborn genetic diseases [RCV002461196]\|not provided [RCV001552121]	Chr7:30598835 [GRCh38] Chr7:30638451 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.875T>C (p.Met292Thr)	single nucleotide variant	not provided [RCV000483930]	Chr7:30609724 [GRCh38] Chr7:30649340 [GRCh37] Chr7:7p14.3	likely pathogenic
NM_002047.4(GARS1):c.998A>C (p.Glu333Ala)	single nucleotide variant	not provided [RCV000484050]	Chr7:30612212 [GRCh38] Chr7:30651828 [GRCh37] Chr7:7p14.3	likely pathogenic
NM_002047.4(GARS1):c.51G>A (p.Leu17=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000461012]\|Inborn genetic diseases [RCV002461224]\|not provided [RCV001721539]\|not specified [RCV000517477]	Chr7:30594972 [GRCh38] Chr7:30634588 [GRCh37] Chr7:7p14.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_002047.4(GARS1):c.980G>C (p.Gly327Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000803887]\|not provided [RCV000481350]	Chr7:30612194 [GRCh38] Chr7:30651810 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1705G>A (p.Glu569Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000468725]	Chr7:30628565 [GRCh38] Chr7:30668181 [GRCh37] Chr7:7p14.3	likely pathogenic\|uncertain significance
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000694201]\|Charcot-Marie-Tooth disease type 2D [RCV001164409]\|Distal spinal muscular atrophy [RCV001164408]\|Inborn genetic diseases [RCV002461246]\|Neuronopathy, distal hereditary motor, type 5A [RCV001164407]\|not provided [RCV001509302]\|not specified [RCV000486004]	Chr7:30598826 [GRCh38] Chr7:30638442 [GRCh37] Chr7:7p14.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002047.4(GARS1):c.333G>A (p.Ala111=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001439828]\|Inborn genetic diseases [RCV002461225]	Chr7:30599955 [GRCh38] Chr7:30639571 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.196C>T (p.Pro66Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000472803]\|Inborn genetic diseases [RCV002461197]	Chr7:30595117 [GRCh38] Chr7:30634733 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1186G>A (p.Val396Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000472881]\|Charcot-Marie-Tooth disease type 2D [RCV000764712]\|not specified [RCV002248686]	Chr7:30616050 [GRCh38] Chr7:30655666 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.-38G>A	single nucleotide variant	not provided [RCV000482856]	Chr7:30594884 [GRCh38] Chr7:30634500 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1724T>C (p.Ile575Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000466243]	Chr7:30628584 [GRCh38] Chr7:30668200 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.47TGC[4] (p.Leu20del)	microsatellite	Charcot-Marie-Tooth disease type 2 [RCV000477453]\|GARS1-related condition [RCV003972793]\|not provided [RCV001726185]\|not specified [RCV001700389]	Chr7:30594967..30594969 [GRCh38] Chr7:30634583..30634585 [GRCh37] Chr7:7p14.3	benign\|likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	copy number gain	See cases [RCV000510686]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_002047.4(GARS1):c.246_249del (p.Glu83fs)	deletion	GARS-associated growth retardation and developmental delay [RCV000496467]	Chr7:30598817..30598820 [GRCh38] Chr7:30638433..30638436 [GRCh37] Chr7:7p14.3	pathogenic
NM_002047.4(GARS1):c.929G>A (p.Arg310Gln)	single nucleotide variant	GARS-associated growth retardation and developmental delay [RCV000496771]\|Inborn genetic diseases [RCV002461250]	Chr7:30612143 [GRCh38] Chr7:30651759 [GRCh37] Chr7:7p14.3	pathogenic\|uncertain significance
NM_002047.2(GARS1):c.-45C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV000509170]	Chr7:30594877 [GRCh38] Chr7:30634493 [GRCh37] Chr7:7p14.3	not provided
NM_002047.4(GARS1):c.562G>A (p.Val188Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000819577]\|Charcot-Marie-Tooth disease type 2D [RCV001160833]\|Distal spinal muscular atrophy [RCV001159467]\|Neuronopathy, distal hereditary motor, type 5A [RCV001159466]\|not provided [RCV000513263]	Chr7:30601193 [GRCh38] Chr7:30640809 [GRCh37] Chr7:7p14.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	copy number gain	See cases [RCV000511549]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_002047.4(GARS1):c.1810-2A>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745568]\|Inborn genetic diseases [RCV003257248]	Chr7:30631446 [GRCh38] Chr7:30671062 [GRCh37] Chr7:7p14.3	likely pathogenic\|uncertain significance
NM_002047.4(GARS1):c.719A>G (p.Glu240Gly)	single nucleotide variant	Inborn genetic diseases [RCV003291718]	Chr7:30603556 [GRCh38] Chr7:30643172 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000789776]\|Charcot-Marie-Tooth disease type 2 [RCV000533118]\|Neuronopathy, distal hereditary motor, type 5 [RCV003447146]\|not provided [RCV000734019]	Chr7:30609643 [GRCh38] Chr7:30649259 [GRCh37] Chr7:7p14.3	pathogenic\|likely pathogenic\|uncertain significance
NM_002047.4(GARS1):c.-6A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001327334]\|not specified [RCV000615282]	Chr7:30594916 [GRCh38] Chr7:30634532 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.1031+9del	deletion	Charcot-Marie-Tooth disease type 2 [RCV000869854]\|not specified [RCV000601808]	Chr7:30612254 [GRCh38] Chr7:30651870 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.47TGC[6] (p.Leu20dup)	microsatellite	Charcot-Marie-Tooth disease type 2 [RCV000555607]	Chr7:30594966..30594967 [GRCh38] Chr7:30634582..30634583 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.818C>T (p.Ser273Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653833]	Chr7:30609667 [GRCh38] Chr7:30649283 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1904-18T>C	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001174155]\|Charcot-Marie-Tooth disease type 2 [RCV002232590]\|not provided [RCV001697550]	Chr7:30632229 [GRCh38] Chr7:30671845 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1927G>A (p.Val643Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653843]	Chr7:30632270 [GRCh38] Chr7:30671886 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1969C>T (p.Arg657Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653859]\|Inborn genetic diseases [RCV002461992]	Chr7:30632312 [GRCh38] Chr7:30671928 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1387G>T (p.Asp463Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653869]	Chr7:30621420 [GRCh38] Chr7:30661036 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.47TGC[7] (p.Leu19_Leu20dup)	microsatellite	Charcot-Marie-Tooth disease type 2 [RCV000653877]\|not provided [RCV001592832]	Chr7:30594966..30594967 [GRCh38] Chr7:30634582..30634583 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1829T>C (p.Val610Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653888]	Chr7:30631467 [GRCh38] Chr7:30671083 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1138G>A (p.Ala380Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653893]	Chr7:30616002 [GRCh38] Chr7:30655618 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1534G>A (p.Ala512Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653898]\|Inborn genetic diseases [RCV002534205]	Chr7:30622383 [GRCh38] Chr7:30661999 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.1784T>C (p.Val595Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653899]\|Inborn genetic diseases [RCV002461994]\|not provided [RCV003320720]	Chr7:30628644 [GRCh38] Chr7:30668260 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.281C>A (p.Ala94Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653917]	Chr7:30598854 [GRCh38] Chr7:30638470 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1337A>T (p.Asp446Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653925]	Chr7:30617256 [GRCh38] Chr7:30656872 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1001T>A (p.Ile334Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653928]\|Charcot-Marie-Tooth disease type 2D [RCV001334991]\|Spinal muscular atrophy, infantile, James type [RCV001260980]	Chr7:30612215 [GRCh38] Chr7:30651831 [GRCh37] Chr7:7p14.3	pathogenic\|likely pathogenic
NM_002047.4(GARS1):c.2121A>C (p.Gln707His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653942]	Chr7:30633761 [GRCh38] Chr7:30673377 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1817G>A (p.Ser606Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653945]\|not provided [RCV002512119]	Chr7:30631455 [GRCh38] Chr7:30671071 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.1234C>T (p.Arg412Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653946]\|GARS1-related condition [RCV003892495]\|not provided [RCV001766423]	Chr7:30617153 [GRCh38] Chr7:30656769 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1760C>T (p.Thr587Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653950]\|not provided [RCV001310961]	Chr7:30628620 [GRCh38] Chr7:30668236 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1034A>G (p.Glu345Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653955]	Chr7:30615898 [GRCh38] Chr7:30655514 [GRCh37] Chr7:7p14.3	likely pathogenic\|uncertain significance
NM_002047.4(GARS1):c.759A>G (p.Glu253=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000654008]	Chr7:30609608 [GRCh38] Chr7:30649224 [GRCh37] Chr7:7p14.3	likely benign
NC_000007.14:g.(?_30598776)_(30598917_?)del	deletion	Charcot-Marie-Tooth disease type 2 [RCV000654032]	Chr7:30598776..30598917 [GRCh38] Chr7:30638392..30638533 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.569+8C>A	single nucleotide variant	not specified [RCV000613576]	Chr7:30601208 [GRCh38] Chr7:30640824 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1149C>T (p.Ser383=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002232245]\|not specified [RCV000614259]	Chr7:30616013 [GRCh38] Chr7:30655629 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1700-13A>T	single nucleotide variant	not specified [RCV000611634]	Chr7:30628547 [GRCh38] Chr7:30668163 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.658+14T>C	single nucleotide variant	not specified [RCV000611888]	Chr7:30603136 [GRCh38] Chr7:30642752 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.325-9C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000865744]\|not specified [RCV000614753]	Chr7:30599938 [GRCh38] Chr7:30639554 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1487A>G (p.Gln496Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000536521]	Chr7:30622336 [GRCh38] Chr7:30661952 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.271G>A (p.Val91Ile)	single nucleotide variant	not specified [RCV000605595]	Chr7:30598844 [GRCh38] Chr7:30638460 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1857C>T (p.Leu619=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001088904]\|Inborn genetic diseases [RCV002461907]\|not provided [RCV000596609]	Chr7:30631495 [GRCh38] Chr7:30671111 [GRCh37] Chr7:7p14.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_002047.4(GARS1):c.-40C>A	single nucleotide variant	not specified [RCV000606099]	Chr7:30594882 [GRCh38] Chr7:30634498 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1219G>A (p.Gly407Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000700770]\|Inborn genetic diseases [RCV002462048]	Chr7:30617138 [GRCh38] Chr7:30656754 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.2(GARS1):c.-45C>T	single nucleotide variant	not provided [RCV000657955]	Chr7:30594877 [GRCh38] Chr7:30634493 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.123_124insG (p.Pro42fs)	insertion	Motor neuron disease [RCV000664247]	Chr7:30595044..30595045 [GRCh38] Chr7:30634660..30634661 [GRCh37] Chr7:7p14.3	uncertain significance
GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	copy number gain	not provided [RCV000682909]	Chr7:30463886..43470805 [GRCh37] Chr7:7p14.3-13	pathogenic
NM_002047.4(GARS1):c.2014A>G (p.Ile672Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000686991]	Chr7:30632357 [GRCh38] Chr7:30671973 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1208A>G (p.Asn403Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000687214]\|Inborn genetic diseases [RCV002544771]\|not provided [RCV001756163]	Chr7:30617127 [GRCh38] Chr7:30656743 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.190_192dup (p.Leu64dup)	duplication	Charcot-Marie-Tooth disease type 2 [RCV000701821]	Chr7:30595108..30595109 [GRCh38] Chr7:30634724..30634725 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1162C>T (p.Arg388Trp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000806767]\|not provided [RCV000711737]	Chr7:30616026 [GRCh38] Chr7:30655642 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1729C>A (p.Pro577Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000702309]\|not provided [RCV003442048]	Chr7:30628589 [GRCh38] Chr7:30668205 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1283G>T (p.Arg428Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000705487]	Chr7:30617202 [GRCh38] Chr7:30656818 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1715C>T (p.Pro572Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000699409]\|not provided [RCV001811449]	Chr7:30628575 [GRCh38] Chr7:30668191 [GRCh37] Chr7:7p14.3	likely pathogenic\|uncertain significance
NM_002047.4(GARS1):c.1543G>A (p.Val515Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000700633]\|Inborn genetic diseases [RCV002462045]	Chr7:30622392 [GRCh38] Chr7:30662008 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.450T>A (p.Phe150Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000706647]	Chr7:30601081 [GRCh38] Chr7:30640697 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1359C>T (p.Tyr453=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000704006]\|not provided [RCV001811453]	Chr7:30617278 [GRCh38] Chr7:30656894 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.733C>A (p.Gln245Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000704040]\|not provided [RCV001759408]	Chr7:30603570 [GRCh38] Chr7:30643186 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2159A>C (p.Glu720Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002233728]\|Charcot-Marie-Tooth disease type 2D [RCV001334992]\|Inborn genetic diseases [RCV002534498]\|not provided [RCV000711742]	Chr7:30633799 [GRCh38] Chr7:30673415 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.144C>T (p.Ala48=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001089118]\|Inborn genetic diseases [RCV002462062]\|not provided [RCV000711738]	Chr7:30595065 [GRCh38] Chr7:30634681 [GRCh37] Chr7:7p14.3	benign\|likely benign
NM_002047.4(GARS1):c.174G>A (p.Ala58=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001086046]\|Inborn genetic diseases [RCV002462063]\|not provided [RCV000711739]	Chr7:30595095 [GRCh38] Chr7:30634711 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.418A>C (p.Ile140Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000704452]	Chr7:30600040 [GRCh38] Chr7:30639656 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.112G>A (p.Ala38Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000695402]\|not provided [RCV001756202]	Chr7:30595033 [GRCh38] Chr7:30634649 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1181A>G (p.Asp394Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000704928]	Chr7:30616045 [GRCh38] Chr7:30655661 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.162C>T (p.Ser54=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000696352]	Chr7:30595083 [GRCh38] Chr7:30634699 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.373G>C (p.Glu125Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000694455]	Chr7:30599995 [GRCh38] Chr7:30639611 [GRCh37] Chr7:7p14.3	uncertain significance
NC_000007.14:g.30594476T>C	single nucleotide variant	not provided [RCV001547302]	Chr7:30594476 [GRCh38] Chr7:30634092 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.881+240A>G	single nucleotide variant	not provided [RCV001566743]	Chr7:30609970 [GRCh38] Chr7:30649586 [GRCh37] Chr7:7p14.3	likely benign
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	inversion	Childhood apraxia of speech [RCV000234948]	Chr7:21001537..114528369 [GRCh37] Chr7:7p15.3-q31.1	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3	copy number gain	not provided [RCV000746280]	Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3	copy number gain	not provided [RCV000746278]	Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p14.3(chr7:30655542-31164655)x4	copy number gain	not provided [RCV000746592]	Chr7:30655542..31164655 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1360-339_1360-336del	microsatellite	not provided [RCV001644548]	Chr7:30621047..30621050 [GRCh38] Chr7:30660663..30660666 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1415dup (p.His472fs)	duplication	not provided [RCV001543494]	Chr7:30621447..30621448 [GRCh38] Chr7:30661063..30661064 [GRCh37] Chr7:7p14.3	likely pathogenic
NM_002047.4(GARS1):c.18A>G (p.Pro6=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001445782]	Chr7:30594939 [GRCh38] Chr7:30634555 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.2108C>T (p.Pro703Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001205996]\|not provided [RCV000762449]	Chr7:30633748 [GRCh38] Chr7:30673364 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.532A>G (p.Ile178Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001066797]	Chr7:30601163 [GRCh38] Chr7:30640779 [GRCh37] Chr7:7p14.3	uncertain significance
NC_000007.14:g.30634188C>T	single nucleotide variant	not provided [RCV001586214]	Chr7:30634188 [GRCh38] Chr7:30673804 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.2(GARS1):c.-69T>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV001164293]\|Distal spinal muscular atrophy [RCV001164292]\|Neuronopathy, distal hereditary motor, type 5A [RCV001164294]	Chr7:30594853 [GRCh38] Chr7:30634469 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.2(GARS1):c.-64C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV001164295]\|Distal spinal muscular atrophy [RCV001159378]\|Neuronopathy, distal hereditary motor, type 5A [RCV001159377]	Chr7:30594858 [GRCh38] Chr7:30634474 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.647A>G (p.His216Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV001253591]\|Distal spinal muscular atrophy [RCV000857176]\|Neuronopathy, distal hereditary motor, type 5A [RCV001260979]\|not provided [RCV003482320]	Chr7:30603111 [GRCh38] Chr7:30642727 [GRCh37] Chr7:7p14.3	pathogenic\|likely pathogenic\|uncertain significance
NM_002047.4(GARS1):c.1140C>G (p.Ala380=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000867184]	Chr7:30616004 [GRCh38] Chr7:30655620 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1743G>C (p.Leu581=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001174162]\|Charcot-Marie-Tooth disease type 2 [RCV002235935]	Chr7:30628603 [GRCh38] Chr7:30668219 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1289G>A (p.Arg430Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001061357]	Chr7:30617208 [GRCh38] Chr7:30656824 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1904-3T>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001062085]	Chr7:30632244 [GRCh38] Chr7:30671860 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001035448]\|Charcot-Marie-Tooth disease type 2D [RCV001162652]\|Distal spinal muscular atrophy [RCV001161102]\|Inborn genetic diseases [RCV002462265]\|Neuronopathy, distal hereditary motor, type 5A [RCV001161101]\|not provided [RCV003736961]	Chr7:30626314 [GRCh38] Chr7:30665930 [GRCh37] Chr7:7p14.3	benign\|uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	copy number gain	not provided [RCV000848126]	Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_002047.4(GARS1):c.2065C>G (p.Arg689Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001051156]	Chr7:30632408 [GRCh38] Chr7:30672024 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1467+330A>C	single nucleotide variant	not provided [RCV000827698]	Chr7:30621830 [GRCh38] Chr7:30661446 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.547C>T (p.Leu183Phe)	single nucleotide variant	Distal spinal muscular atrophy [RCV000790254]	Chr7:30601178 [GRCh38] Chr7:30640794 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1809+8G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001497149]	Chr7:30628677 [GRCh38] Chr7:30668293 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.722G>A (p.Ser241Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001395684]\|not provided [RCV003489948]	Chr7:30603559 [GRCh38] Chr7:30643175 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.1123T>C (p.Leu375=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001392155]	Chr7:30615987 [GRCh38] Chr7:30655603 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.44C>T (p.Ala15Val)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000857173]\|Charcot-Marie-Tooth disease type 2 [RCV001070294]\|Inborn genetic diseases [RCV002462194]	Chr7:30594965 [GRCh38] Chr7:30634581 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.1245C>T (p.Leu415=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001418339]	Chr7:30617164 [GRCh38] Chr7:30656780 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1992T>A (p.Ile664=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000977458]	Chr7:30632335 [GRCh38] Chr7:30671951 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1851C>T (p.Ser617=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001402297]	Chr7:30631489 [GRCh38] Chr7:30671105 [GRCh37] Chr7:7p14.3	likely benign
GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	copy number loss	not provided [RCV001005924]	Chr7:23877135..33139446 [GRCh37] Chr7:7p15.3-14.3	pathogenic
NM_002047.4(GARS1):c.1921C>T (p.His641Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000818890]\|Inborn genetic diseases [RCV002462184]	Chr7:30632264 [GRCh38] Chr7:30671880 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.1032-149A>T	single nucleotide variant	not provided [RCV000835642]	Chr7:30615747 [GRCh38] Chr7:30655363 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1613+96C>T	single nucleotide variant	not provided [RCV000835643]	Chr7:30622558 [GRCh38] Chr7:30662174 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1996G>A (p.Val666Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001477654]\|Inborn genetic diseases [RCV002462206]	Chr7:30632339 [GRCh38] Chr7:30671955 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1031+229C>T	single nucleotide variant	not provided [RCV000841708]	Chr7:30612474 [GRCh38] Chr7:30652090 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.401A>G (p.Tyr134Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000814314]\|not provided [RCV002473149]	Chr7:30600023 [GRCh38] Chr7:30639639 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1009C>T (p.Arg337Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000810292]	Chr7:30612223 [GRCh38] Chr7:30651839 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2094+276_2094+277insC	insertion	not provided [RCV000833001]	Chr7:30632713..30632714 [GRCh38] Chr7:30672329..30672330 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.2094+277G>A	single nucleotide variant	not provided [RCV000833002]	Chr7:30632714 [GRCh38] Chr7:30672330 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.569+173T>C	single nucleotide variant	not provided [RCV000833385]	Chr7:30601373 [GRCh38] Chr7:30640989 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1614-271A>G	single nucleotide variant	not provided [RCV000832030]	Chr7:30625963 [GRCh38] Chr7:30665579 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.428-139G>A	single nucleotide variant	not provided [RCV000836182]	Chr7:30600920 [GRCh38] Chr7:30640536 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.478A>G (p.Asn160Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000806471]	Chr7:30601109 [GRCh38] Chr7:30640725 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.427G>A (p.Gly143Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000810402]\|not provided [RCV003314651]	Chr7:30600049 [GRCh38] Chr7:30639665 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.223-304G>A	single nucleotide variant	not provided [RCV000832430]	Chr7:30598492 [GRCh38] Chr7:30638108 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.881+290T>C	single nucleotide variant	not provided [RCV000832851]	Chr7:30610020 [GRCh38] Chr7:30649636 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1511T>C (p.Ile504Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236007]\|not provided [RCV000998784]	Chr7:30622360 [GRCh38] Chr7:30661976 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.843G>A (p.Met281Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001337244]\|Inborn genetic diseases [RCV002462249]\|not provided [RCV000992026]	Chr7:30609692 [GRCh38] Chr7:30649308 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.428-320G>T	single nucleotide variant	not provided [RCV000844172]	Chr7:30600739 [GRCh38] Chr7:30640355 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1359+299A>G	single nucleotide variant	not provided [RCV000844173]	Chr7:30617577 [GRCh38] Chr7:30657193 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1468-285T>C	single nucleotide variant	not provided [RCV000844175]	Chr7:30622032 [GRCh38] Chr7:30661648 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.668A>G (p.Gln223Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000802232]\|GARS-Associated Axonal Neuropathy [RCV001535443]\|GARS1-related neuropathies [RCV001249738]	Chr7:30603505 [GRCh38] Chr7:30643121 [GRCh37] Chr7:7p14.3	uncertain significance\|not provided
NM_002047.4(GARS1):c.855C>T (p.Phe285=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001428760]	Chr7:30609704 [GRCh38] Chr7:30649320 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1905G>A (p.Ser635=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000857182]\|Charcot-Marie-Tooth disease type 2 [RCV001042392]\|not provided [RCV003482321]	Chr7:30632248 [GRCh38] Chr7:30671864 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1836T>G (p.Ala612=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001405448]	Chr7:30631474 [GRCh38] Chr7:30671090 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.998A>G (p.Glu333Gly)	single nucleotide variant	Hereditary motor neuron disease [RCV000789143]\|Neuronopathy, distal hereditary motor, type 5 [RCV003447179]	Chr7:30612212 [GRCh38] Chr7:30651828 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.455C>T (p.Pro152Leu)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000789144]\|Charcot-Marie-Tooth disease type 2D [RCV003447180]	Chr7:30601086 [GRCh38] Chr7:30640702 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1031+1G>A	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000789709]\|Charcot-Marie-Tooth disease type 2 [RCV002234688]\|Charcot-Marie-Tooth disease type 2D [RCV003447238]\|GARS1-related condition [RCV003908089]\|Inborn genetic diseases [RCV002462134]	Chr7:30612246 [GRCh38] Chr7:30651862 [GRCh37] Chr7:7p14.3	pathogenic\|likely pathogenic\|uncertain significance
NM_002047.4(GARS1):c.324+259T>G	single nucleotide variant	not provided [RCV000830974]	Chr7:30599156 [GRCh38] Chr7:30638772 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1955G>C (p.Gly652Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV003447257]\|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789772]\|Spinal muscular atrophy, infantile, James type [RCV001260978]	Chr7:30632298 [GRCh38] Chr7:30671914 [GRCh37] Chr7:7p14.3	pathogenic\|uncertain significance
NM_002047.4(GARS1):c.815T>A (p.Leu272Gln)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000789774]\|Charcot-Marie-Tooth disease type 2D [RCV003447258]	Chr7:30609664 [GRCh38] Chr7:30649280 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.427+176C>G	single nucleotide variant	not provided [RCV000841735]	Chr7:30600225 [GRCh38] Chr7:30639841 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.223-132G>A	single nucleotide variant	not provided [RCV000841835]	Chr7:30598664 [GRCh38] Chr7:30638280 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.643G>C (p.Asp215His)	single nucleotide variant	Neuronopathy, distal hereditary motor, type 5A [RCV000788053]	Chr7:30603107 [GRCh38] Chr7:30642723 [GRCh37] Chr7:7p14.3	likely pathogenic
NM_002047.4(GARS1):c.332C>T (p.Ala111Val)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000789053]\|Charcot-Marie-Tooth disease type 2 [RCV002535799]\|Charcot-Marie-Tooth disease type 2D [RCV001542252]\|Distal spinal muscular atrophy [RCV000790252]\|Neuronopathy, distal hereditary motor, type 5 [RCV003447161]	Chr7:30599954 [GRCh38] Chr7:30639570 [GRCh37] Chr7:7p14.3	pathogenic\|uncertain significance\|not provided
NM_002047.4(GARS1):c.325-292G>T	single nucleotide variant	not provided [RCV000831864]	Chr7:30599655 [GRCh38] Chr7:30639271 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1700-1G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000797335]	Chr7:30628559 [GRCh38] Chr7:30668175 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.616G>A (p.Val206Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000804496]\|Charcot-Marie-Tooth disease type 2D [RCV001160834]\|Distal spinal muscular atrophy [RCV001160836]\|Neuronopathy, distal hereditary motor, type 5A [RCV001160835]	Chr7:30603080 [GRCh38] Chr7:30642696 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.301C>T (p.Arg101Cys)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001174148]\|Charcot-Marie-Tooth disease type 2 [RCV000823490]\|Inborn genetic diseases [RCV002535988]	Chr7:30598874 [GRCh38] Chr7:30638490 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.2008G>C (p.Val670Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000794501]	Chr7:30632351 [GRCh38] Chr7:30671967 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1108G>C (p.Asp370His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000802794]\|Inborn genetic diseases [RCV002462160]	Chr7:30615972 [GRCh38] Chr7:30655588 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001241138]\|Charcot-Marie-Tooth disease type 2D [RCV001159689]\|Distal spinal muscular atrophy [RCV001164607]\|Neuronopathy, distal hereditary motor, type 5A [RCV001159690]	Chr7:30617172 [GRCh38] Chr7:30656788 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
GRCh37/hg19 7p14.3(chr7:30502942-30888964)x1	copy number loss	not provided [RCV001005929]	Chr7:30502942..30888964 [GRCh37] Chr7:7p14.3	uncertain significance
NC_000007.13:g.23236782_30690453del7453672	deletion	Silver Russell Syndrome-related disorder [RCV000785664]	Chr7:23236782..30690453 [GRCh37] Chr7:7p15.3-14.3	pathogenic
NM_002047.4(GARS1):c.1155G>C (p.Gln385His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000824406]	Chr7:30616019 [GRCh38] Chr7:30655635 [GRCh37] Chr7:7p14.3	uncertain significance
NC_000007.14:g.30615873A>T	single nucleotide variant	not provided [RCV000833463]	Chr7:30655489 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1806A>G (p.Arg602=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002549581]	Chr7:30628666 [GRCh38] Chr7:30668282 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1699+285G>A	single nucleotide variant	not provided [RCV000830975]	Chr7:30626604 [GRCh38] Chr7:30666220 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.979G>A (p.Gly327Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000819141]\|Neuronopathy, distal hereditary motor, type 5A [RCV001823170]	Chr7:30612193 [GRCh38] Chr7:30651809 [GRCh37] Chr7:7p14.3	pathogenic\|uncertain significance
NM_002047.2(GARS1):c.-534T>C	single nucleotide variant	not provided [RCV000844171]	Chr7:30594388 [GRCh38] Chr7:30634004 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.631T>C (p.Cys211Arg)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000789771]\|Charcot-Marie-Tooth disease type 2 [RCV001379906]\|Charcot-Marie-Tooth disease type 2D [RCV003447256]	Chr7:30603095 [GRCh38] Chr7:30642711 [GRCh37] Chr7:7p14.3	likely pathogenic\|uncertain significance
NM_002047.4(GARS1):c.598G>A (p.Asp200Asn)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000789775]\|Charcot-Marie-Tooth disease type 2 [RCV001038534]\|Neuronopathy, distal hereditary motor, type 5 [RCV003447259]	Chr7:30603062 [GRCh38] Chr7:30642678 [GRCh37] Chr7:7p14.3	pathogenic\|likely pathogenic\|uncertain significance
NM_002047.4(GARS1):c.1809+1G>A	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000789708]\|Charcot-Marie-Tooth disease type 2 [RCV001296628]\|Charcot-Marie-Tooth disease type 2D [RCV003447237]	Chr7:30628670 [GRCh38] Chr7:30668286 [GRCh37] Chr7:7p14.3	pathogenic\|uncertain significance
NM_002047.2(GARS1):c.-418T>A	single nucleotide variant	not provided [RCV000834895]	Chr7:30594504 [GRCh38] Chr7:30634120 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.223-166G>A	single nucleotide variant	not provided [RCV000831800]	Chr7:30598630 [GRCh38] Chr7:30638246 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1613+159G>A	single nucleotide variant	not provided [RCV000841673]	Chr7:30622621 [GRCh38] Chr7:30662237 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.19G>T (p.Val7Leu)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001174145]\|Charcot-Marie-Tooth disease type 2 [RCV000814077]\|not provided [RCV003736911]	Chr7:30594940 [GRCh38] Chr7:30634556 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.1581T>C (p.Ile527=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000862233]\|GARS1-related condition [RCV003975383]	Chr7:30622430 [GRCh38] Chr7:30662046 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1809+10_1809+12del	microsatellite	Charcot-Marie-Tooth disease type 2 [RCV002235143]\|Charcot-Marie-Tooth disease type 5 [RCV000857181]	Chr7:30628674..30628676 [GRCh38] Chr7:30668290..30668292 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.1188T>C (p.Val396=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV001164602]\|Distal spinal muscular atrophy [RCV001164601]\|Neuronopathy, distal hereditary motor, type 5A [RCV001164603]	Chr7:30616052 [GRCh38] Chr7:30655668 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.8C>A (p.Ser3Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001067276]	Chr7:30594929 [GRCh38] Chr7:30634545 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.104C>G (p.Ser35Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236002]\|not provided [RCV000992025]	Chr7:30595025 [GRCh38] Chr7:30634641 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.130A>C (p.Ile44Leu)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000857174]	Chr7:30595051 [GRCh38] Chr7:30634667 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2044C>A (p.His682Asn)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000857183]\|Charcot-Marie-Tooth disease type 2 [RCV001360734]	Chr7:30632387 [GRCh38] Chr7:30672003 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.2(GARS1):c.-280G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV001162155]\|Distal spinal muscular atrophy [RCV001162157]\|Neuronopathy, distal hereditary motor, type 5A [RCV001162156]	Chr7:30594642 [GRCh38] Chr7:30634258 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1770A>G (p.Glu590=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV001164715]\|Distal spinal muscular atrophy [RCV001164716]\|Neuronopathy, distal hereditary motor, type 5A [RCV001162653]	Chr7:30628630 [GRCh38] Chr7:30668246 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1809+16C>T	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001174153]\|Charcot-Marie-Tooth disease type 2 [RCV002240918]	Chr7:30628685 [GRCh38] Chr7:30668301 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.34G>A (p.Ala12Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV001002799]	Chr7:30594955 [GRCh38] Chr7:30634571 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1644A>G (p.Thr548=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172971]\|Charcot-Marie-Tooth disease type 2 [RCV002240742]	Chr7:30626264 [GRCh38] Chr7:30665880 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1426A>T (p.Thr476Ser)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001174146]	Chr7:30621459 [GRCh38] Chr7:30661075 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.352A>G (p.Ile118Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001213122]	Chr7:30599974 [GRCh38] Chr7:30639590 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.722G>C (p.Ser241Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001212977]\|Inborn genetic diseases [RCV002462830]	Chr7:30603559 [GRCh38] Chr7:30643175 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1573T>C (p.Cys525Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001223852]	Chr7:30622422 [GRCh38] Chr7:30662038 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1592A>C (p.Glu531Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001240387]	Chr7:30622441 [GRCh38] Chr7:30662057 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.683A>C (p.Asp228Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001242613]	Chr7:30603520 [GRCh38] Chr7:30643136 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1162C>G (p.Arg388Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001240298]\|Inborn genetic diseases [RCV002462864]	Chr7:30616026 [GRCh38] Chr7:30655642 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.671A>T (p.Lys224Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001221212]	Chr7:30603508 [GRCh38] Chr7:30643124 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.694del (p.Ser232fs)	deletion	Charcot-Marie-Tooth disease type 2 [RCV001222119]	Chr7:30603530 [GRCh38] Chr7:30643146 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1002C>G (p.Ile334Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002240825]\|Neuronopathy, distal hereditary motor, type 5A [RCV002249786]\|See cases [RCV001198686]	Chr7:30612216 [GRCh38] Chr7:30651832 [GRCh37] Chr7:7p14.3	pathogenic\|uncertain significance
NM_002047.4(GARS1):c.309G>C (p.Arg103Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001201941]	Chr7:30598882 [GRCh38] Chr7:30638498 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1622C>G (p.Thr541Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003106089]\|not provided [RCV000998785]	Chr7:30626242 [GRCh38] Chr7:30665858 [GRCh37] Chr7:7p14.3	uncertain significance
GRCh37/hg19 7p15.1-14.3(chr7:28487175-32037495)x3	copy number gain	not provided [RCV001005926]	Chr7:28487175..32037495 [GRCh37] Chr7:7p15.1-14.3	likely pathogenic
NM_002047.4(GARS1):c.764C>A (p.Ala255Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001211763]	Chr7:30609613 [GRCh38] Chr7:30649229 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1945G>C (p.Asp649His)	single nucleotide variant	not provided [RCV003127172]	Chr7:30632288 [GRCh38] Chr7:30671904 [GRCh37] Chr7:7p14.3	uncertain significance
NC_000007.13:g.(?_30642630)_(30649366_?)del	deletion	Charcot-Marie-Tooth disease type 2 [RCV003107579]	Chr7:30642630..30649366 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1700-85G>A	single nucleotide variant	not provided [RCV001553332]	Chr7:30628475 [GRCh38] Chr7:30668091 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1360-71A>C	single nucleotide variant	not provided [RCV001717005]	Chr7:30621322 [GRCh38] Chr7:30660938 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1195-80G>A	single nucleotide variant	not provided [RCV001717010]	Chr7:30617034 [GRCh38] Chr7:30656650 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1194+212C>G	single nucleotide variant	not provided [RCV001638973]	Chr7:30616270 [GRCh38] Chr7:30655886 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.59T>C (p.Leu20Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002241378]\|Inborn genetic diseases [RCV002463017]\|not provided [RCV001570172]\|not specified [RCV003987879]	Chr7:30594980 [GRCh38] Chr7:30634596 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.1528A>C (p.Lys510Gln)	single nucleotide variant	Distal spinal muscular atrophy [RCV000857178]	Chr7:30622377 [GRCh38] Chr7:30661993 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1468-6T>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001467651]	Chr7:30622311 [GRCh38] Chr7:30661927 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.-1C>A	single nucleotide variant	not provided [RCV001766101]	Chr7:30594921 [GRCh38] Chr7:30634537 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1403A>C (p.Asp468Ala)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000857177]	Chr7:30621436 [GRCh38] Chr7:30661052 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.537T>C (p.Asp179=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001460002]	Chr7:30601168 [GRCh38] Chr7:30640784 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.711A>G (p.Ser237=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001432422]	Chr7:30603548 [GRCh38] Chr7:30643164 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1001T>G (p.Ile334Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001034922]	Chr7:30612215 [GRCh38] Chr7:30651831 [GRCh37] Chr7:7p14.3	pathogenic
NM_002047.4(GARS1):c.123C>A (p.Cys41Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001222358]	Chr7:30595044 [GRCh38] Chr7:30634660 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1194+3A>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV001164604]\|Distal spinal muscular atrophy [RCV001164605]\|Neuronopathy, distal hereditary motor, type 5A [RCV001164606]	Chr7:30616061 [GRCh38] Chr7:30655677 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1699+6T>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001220351]	Chr7:30626325 [GRCh38] Chr7:30665941 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1700-13A>G	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172983]\|Charcot-Marie-Tooth disease type 2 [RCV002558743]	Chr7:30628547 [GRCh38] Chr7:30668163 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.325-9C>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000911646]	Chr7:30599938 [GRCh38] Chr7:30639554 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1810-107T>G	single nucleotide variant	not provided [RCV001551515]	Chr7:30631341 [GRCh38] Chr7:30670957 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1195-47T>C	single nucleotide variant	not provided [RCV001557466]	Chr7:30617067 [GRCh38] Chr7:30656683 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.*51dup	duplication	not provided [RCV001557562]	Chr7:30633896..30633897 [GRCh38] Chr7:30673512..30673513 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1810-199G>A	single nucleotide variant	not provided [RCV001553110]	Chr7:30631249 [GRCh38] Chr7:30670865 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.46C>G (p.Leu16Val)	single nucleotide variant	not provided [RCV001553344]	Chr7:30594967 [GRCh38] Chr7:30634583 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1467+113G>A	single nucleotide variant	not provided [RCV001549762]	Chr7:30621613 [GRCh38] Chr7:30661229 [GRCh37] Chr7:7p14.3	likely benign
GRCh37/hg19 7p14.3(chr7:30463886-30674061)x3	copy number gain	not provided [RCV001005928]	Chr7:30463886..30674061 [GRCh37] Chr7:7p14.3	uncertain significance
NC_000007.14:g.30634164A>G	single nucleotide variant	not provided [RCV001720436]	Chr7:30634164 [GRCh38] Chr7:30673780 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1360-335T>C	single nucleotide variant	not provided [RCV001716962]	Chr7:30621058 [GRCh38] Chr7:30660674 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.570-68_570-64del	deletion	not provided [RCV001695093]	Chr7:30602962..30602966 [GRCh38] Chr7:30642578..30642582 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1613+199del	deletion	not provided [RCV001599106]	Chr7:30622651 [GRCh38] Chr7:30662267 [GRCh37] Chr7:7p14.3	benign
NM_002047.2(GARS1):c.-166T>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV001162259]\|Distal spinal muscular atrophy [RCV001162258]\|Neuronopathy, distal hereditary motor, type 5A [RCV001162260]	Chr7:30594756 [GRCh38] Chr7:30634372 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.2(GARS1):c.-85C>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV001162263]\|Distal spinal muscular atrophy [RCV001162261]\|Neuronopathy, distal hereditary motor, type 5A [RCV001162262]\|not provided [RCV001545432]	Chr7:30594837 [GRCh38] Chr7:30634453 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.1809+8G>C	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172978]	Chr7:30628677 [GRCh38] Chr7:30668293 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.757G>A (p.Glu253Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002240646]\|not provided [RCV001092562]	Chr7:30609606 [GRCh38] Chr7:30649222 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.2(GARS1):c.-195A>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV001159286]\|Distal spinal muscular atrophy [RCV001160642]\|Neuronopathy, distal hereditary motor, type 5A [RCV001160643]	Chr7:30594727 [GRCh38] Chr7:30634343 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.2(GARS1):c.-180G>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV001160644]\|Distal spinal muscular atrophy [RCV001160645]\|Neuronopathy, distal hereditary motor, type 5A [RCV001160646]	Chr7:30594742 [GRCh38] Chr7:30634358 [GRCh37] Chr7:7p14.3	uncertain significance
NC_000007.14:g.(?_30598786)_(30598907_?)del	deletion	Charcot-Marie-Tooth disease type 2 [RCV001032532]	Chr7:30638402..30638523 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.223-120G>A	single nucleotide variant	not provided [RCV001684370]	Chr7:30598676 [GRCh38] Chr7:30638292 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.598G>T (p.Asp200Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV001542254]	Chr7:30603062 [GRCh38] Chr7:30642678 [GRCh37] Chr7:7p14.3	pathogenic\|not provided
NM_002047.4(GARS1):c.428-171del	deletion	not provided [RCV001671250]	Chr7:30600883 [GRCh38] Chr7:30640499 [GRCh37] Chr7:7p14.3	benign
NC_000007.14:g.(?_30615886)_(30633870_?)dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV001033063]	Chr7:30655502..30673486 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1904-19C>T	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172972]\|Charcot-Marie-Tooth disease type 2 [RCV002240743]	Chr7:30632228 [GRCh38] Chr7:30671844 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.881+17G>A	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172974]\|Charcot-Marie-Tooth disease type 2 [RCV002240912]	Chr7:30609747 [GRCh38] Chr7:30649363 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.129G>T (p.Pro43=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001174158]	Chr7:30595050 [GRCh38] Chr7:30634666 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1032-14G>A	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001174159]\|Charcot-Marie-Tooth disease type 2 [RCV002240749]	Chr7:30615882 [GRCh38] Chr7:30655498 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.570-151C>A	single nucleotide variant	not provided [RCV001665837]	Chr7:30602883 [GRCh38] Chr7:30642499 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.428-13T>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002241371]\|not provided [RCV001546872]	Chr7:30601046 [GRCh38] Chr7:30640662 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1143G>C (p.Gln381His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV001162554]\|Distal spinal muscular atrophy [RCV001162555]\|Neuronopathy, distal hereditary motor, type 5A [RCV001162553]	Chr7:30616007 [GRCh38] Chr7:30655623 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1170G>A (p.Met390Ile)	single nucleotide variant	not provided [RCV001547389]	Chr7:30616034 [GRCh38] Chr7:30655650 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2094+129G>A	single nucleotide variant	not provided [RCV001609269]	Chr7:30632566 [GRCh38] Chr7:30672182 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1159G>A (p.Ala387Thr)	single nucleotide variant	See cases [RCV001198401]\|not provided [RCV001776139]	Chr7:30616023 [GRCh38] Chr7:30655639 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1A>T (p.Met1Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001204762]	Chr7:30594922 [GRCh38] Chr7:30634538 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1092G>T (p.Lys364Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001232215]	Chr7:30615956 [GRCh38] Chr7:30655572 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.52C>A (p.Leu18Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001236766]\|not specified [RCV003987805]	Chr7:30594973 [GRCh38] Chr7:30634589 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.578G>A (p.Gly193Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001236910]	Chr7:30603042 [GRCh38] Chr7:30642658 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1291C>A (p.Gln431Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001237304]	Chr7:30617210 [GRCh38] Chr7:30656826 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2206A>C (p.Thr736Pro)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001174149]	Chr7:30633846 [GRCh38] Chr7:30673462 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.282A>G (p.Ala94=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001174156]\|Charcot-Marie-Tooth disease type 2 [RCV003744738]	Chr7:30598855 [GRCh38] Chr7:30638471 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1454C>T (p.Pro485Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001248093]\|Charcot-Marie-Tooth disease type 2D [RCV003886494]\|Inborn genetic diseases [RCV002462881]	Chr7:30621487 [GRCh38] Chr7:30661103 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1429A>G (p.Lys477Glu)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001174147]	Chr7:30621462 [GRCh38] Chr7:30661078 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.-14A>G	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001174161]	Chr7:30594908 [GRCh38] Chr7:30634524 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.*145C>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV001164821]\|Distal spinal muscular atrophy [RCV001164822]\|Neuronopathy, distal hereditary motor, type 5A [RCV001164823]	Chr7:30634005 [GRCh38] Chr7:30673621 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.737T>G (p.Leu246Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001217855]	Chr7:30609586 [GRCh38] Chr7:30649202 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.377A>T (p.Asp126Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001058973]	Chr7:30599999 [GRCh38] Chr7:30639615 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1991T>C (p.Ile664Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001207252]\|not provided [RCV001288967]	Chr7:30632334 [GRCh38] Chr7:30671950 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.131T>G (p.Ile44Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001207268]	Chr7:30595052 [GRCh38] Chr7:30634668 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.542C>T (p.Thr181Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001041062]	Chr7:30601173 [GRCh38] Chr7:30640789 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1198G>A (p.Val400Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001210879]	Chr7:30617117 [GRCh38] Chr7:30656733 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1850C>A (p.Ser617Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001039637]	Chr7:30631488 [GRCh38] Chr7:30671104 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2065C>T (p.Arg689Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001214486]\|Neuronopathy, distal hereditary motor, type 5 [RCV003447319]	Chr7:30632408 [GRCh38] Chr7:30672024 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1809+13G>A	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001172969]	Chr7:30628682 [GRCh38] Chr7:30668298 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1001T>C (p.Ile334Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001231694]	Chr7:30612215 [GRCh38] Chr7:30651831 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1172G>A (p.Arg391His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001034988]\|Inborn genetic diseases [RCV002462264]	Chr7:30616036 [GRCh38] Chr7:30655652 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.2220A>C (p.Ter740Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001206894]	Chr7:30633860 [GRCh38] Chr7:30673476 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1315C>T (p.His439Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001303004]	Chr7:30617234 [GRCh38] Chr7:30656850 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1954G>C (p.Gly652Arg)	single nucleotide variant	Spinal muscular atrophy, infantile, James type [RCV001260981]	Chr7:30632297 [GRCh38] Chr7:30671913 [GRCh37] Chr7:7p14.3	pathogenic
NM_002047.4(GARS1):c.446A>G (p.Asp149Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001349715]	Chr7:30601077 [GRCh38] Chr7:30640693 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.794C>A (p.Ser265Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV001265531]	Chr7:30609643 [GRCh38] Chr7:30649259 [GRCh37] Chr7:7p14.3	pathogenic
GRCh37/hg19 7p14.3(chr7:29758030-31318843)x3	copy number gain	not provided [RCV001258937]	Chr7:29758030..31318843 [GRCh37] Chr7:7p14.3	likely pathogenic
NM_002047.4(GARS1):c.842T>A (p.Met281Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001338051]	Chr7:30609691 [GRCh38] Chr7:30649307 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1612G>C (p.Gly538Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001327239]	Chr7:30622461 [GRCh38] Chr7:30662077 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.705G>T (p.Lys235Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001339226]	Chr7:30603542 [GRCh38] Chr7:30643158 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.719A>T (p.Glu240Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001342009]\|Inborn genetic diseases [RCV002462945]	Chr7:30603556 [GRCh38] Chr7:30643172 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1451A>C (p.Lys484Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001351809]\|Inborn genetic diseases [RCV003263997]	Chr7:30621484 [GRCh38] Chr7:30661100 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.719A>C (p.Glu240Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001320277]	Chr7:30603556 [GRCh38] Chr7:30643172 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1171C>A (p.Arg391Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001361317]\|not provided [RCV002473279]\|not specified [RCV003490222]	Chr7:30616035 [GRCh38] Chr7:30655651 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.979G>C (p.Gly327Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001363202]	Chr7:30612193 [GRCh38] Chr7:30651809 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.691T>G (p.Cys231Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001368854]\|Inborn genetic diseases [RCV002548609]	Chr7:30603528 [GRCh38] Chr7:30643144 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.37C>T (p.Arg13Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001369071]\|Inborn genetic diseases [RCV002462966]	Chr7:30594958 [GRCh38] Chr7:30634574 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.628G>T (p.Glu210Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238430]	Chr7:30603092 [GRCh38] Chr7:30642708 [GRCh37] Chr7:7p14.3	pathogenic\|uncertain significance
NM_002047.4(GARS1):c.1000A>G (p.Ile334Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001372959]	Chr7:30612214 [GRCh38] Chr7:30651830 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.3G>T (p.Met1Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001362036]\|Inborn genetic diseases [RCV002462958]	Chr7:30594924 [GRCh38] Chr7:30634540 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2177T>C (p.Phe726Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001364002]\|not provided [RCV001509305]	Chr7:30633817 [GRCh38] Chr7:30673433 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.324+3G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001299978]	Chr7:30598900 [GRCh38] Chr7:30638516 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1225T>G (p.Phe409Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001301497]\|not provided [RCV001726481]	Chr7:30617144 [GRCh38] Chr7:30656760 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.353T>C (p.Ile118Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001322985]	Chr7:30599975 [GRCh38] Chr7:30639591 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1574G>A (p.Cys525Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001312803]	Chr7:30622423 [GRCh38] Chr7:30662039 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.790_792del (p.Lys264del)	deletion	Charcot-Marie-Tooth disease type 2 [RCV001344952]	Chr7:30609638..30609640 [GRCh38] Chr7:30649254..30649256 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1755G>A (p.Met585Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001338858]	Chr7:30628615 [GRCh38] Chr7:30668231 [GRCh37] Chr7:7p14.3	uncertain significance
NC_000007.13:g.(?_30655502)_(30673486_?)dup	duplication	Charcot-Marie-Tooth disease, type 2 [RCV001295460]	Chr7:30655502..30673486 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.128C>T (p.Pro43Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001340364]	Chr7:30595049 [GRCh38] Chr7:30634665 [GRCh37] Chr7:7p14.3	benign\|uncertain significance
NM_002047.4(GARS1):c.403G>T (p.Asp135Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001366834]	Chr7:30600025 [GRCh38] Chr7:30639641 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.325G>A (p.Glu109Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001305894]\|Inborn genetic diseases [RCV003166737]	Chr7:30599947 [GRCh38] Chr7:30639563 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.207A>G (p.Leu69=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001413473]	Chr7:30595128 [GRCh38] Chr7:30634744 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1399T>A (p.Tyr467Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001369676]\|not provided [RCV003238865]	Chr7:30621432 [GRCh38] Chr7:30661048 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.883T>A (p.Tyr295Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001365565]	Chr7:30612097 [GRCh38] Chr7:30651713 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1657A>G (p.Lys553Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001294284]\|Inborn genetic diseases [RCV002462905]	Chr7:30626277 [GRCh38] Chr7:30665893 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.837C>T (p.Asn279=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001464080]	Chr7:30609686 [GRCh38] Chr7:30649302 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.313C>G (p.Leu105Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002564282]\|not provided [RCV001509303]	Chr7:30598886 [GRCh38] Chr7:30638502 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.72C>T (p.Leu24=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001499621]	Chr7:30594993 [GRCh38] Chr7:30634609 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1551G>A (p.Glu517=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001486307]	Chr7:30622400 [GRCh38] Chr7:30662016 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.507T>C (p.Phe169=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001506663]	Chr7:30601138 [GRCh38] Chr7:30640754 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.2205G>A (p.Glu735=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001488817]	Chr7:30633845 [GRCh38] Chr7:30673461 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1613+9T>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001504678]	Chr7:30622471 [GRCh38] Chr7:30662087 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.669G>A (p.Gln223=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001505004]	Chr7:30603506 [GRCh38] Chr7:30643122 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1059C>T (p.His353=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001470930]	Chr7:30615923 [GRCh38] Chr7:30655539 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.615C>T (p.Asp205=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001485050]	Chr7:30603079 [GRCh38] Chr7:30642695 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.582T>C (p.His194=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001399232]	Chr7:30603046 [GRCh38] Chr7:30642662 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.780C>T (p.Asn260=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001412086]	Chr7:30609629 [GRCh38] Chr7:30649245 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1929A>G (p.Val643=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001412073]	Chr7:30632272 [GRCh38] Chr7:30671888 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1764A>T (p.Val588=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001403802]	Chr7:30628624 [GRCh38] Chr7:30668240 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1746T>C (p.Gly582=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001447684]	Chr7:30628606 [GRCh38] Chr7:30668222 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.804T>C (p.Thr268=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001393511]	Chr7:30609653 [GRCh38] Chr7:30649269 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1162C>A (p.Arg388=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001398538]	Chr7:30616026 [GRCh38] Chr7:30655642 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1497C>A (p.Pro499=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001401738]	Chr7:30622346 [GRCh38] Chr7:30661962 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.881+70T>C	single nucleotide variant	not provided [RCV001582022]	Chr7:30609800 [GRCh38] Chr7:30649416 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1359+97A>G	single nucleotide variant	not provided [RCV001592247]	Chr7:30617375 [GRCh38] Chr7:30656991 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.750A>G (p.Gly250=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001455852]	Chr7:30609599 [GRCh38] Chr7:30649215 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.12G>A (p.Pro4=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001497516]	Chr7:30594933 [GRCh38] Chr7:30634549 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1428C>T (p.Thr476=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001470560]	Chr7:30621461 [GRCh38] Chr7:30661077 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.435T>C (p.Ser145=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001487857]	Chr7:30601066 [GRCh38] Chr7:30640682 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1031+77G>A	single nucleotide variant	not provided [RCV001716212]	Chr7:30612322 [GRCh38] Chr7:30651938 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1518G>A (p.Lys506=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001428765]	Chr7:30622367 [GRCh38] Chr7:30661983 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.69G>T (p.Arg23=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001455670]	Chr7:30594990 [GRCh38] Chr7:30634606 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1956G>T (p.Gly652=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001465121]	Chr7:30632299 [GRCh38] Chr7:30671915 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1007C>G (p.Pro336Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001378844]\|not provided [RCV001751749]	Chr7:30612221 [GRCh38] Chr7:30651837 [GRCh37] Chr7:7p14.3	likely pathogenic\|uncertain significance
NM_002047.4(GARS1):c.6C>T (p.Pro2=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001417731]	Chr7:30594927 [GRCh38] Chr7:30634543 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.264A>G (p.Gln88=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001454555]	Chr7:30598837 [GRCh38] Chr7:30638453 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.723T>C (p.Ser241=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001393488]	Chr7:30603560 [GRCh38] Chr7:30643176 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1407C>G (p.Leu469=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001426269]	Chr7:30621440 [GRCh38] Chr7:30661056 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.2123A>T (p.Asp708Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239516]	Chr7:30633763 [GRCh38] Chr7:30673379 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2156T>C (p.Val719Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239517]	Chr7:30633796 [GRCh38] Chr7:30673412 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.557_558delinsGC (p.Glu186Gly)	indel	not provided [RCV001755285]	Chr7:30601188..30601189 [GRCh38] Chr7:30640804..30640805 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.110G>A (p.Ser37Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238410]	Chr7:30595031 [GRCh38] Chr7:30634647 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.125C>T (p.Pro42Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238412]	Chr7:30595046 [GRCh38] Chr7:30634662 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.128C>G (p.Pro43Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238413]	Chr7:30595049 [GRCh38] Chr7:30634665 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.194C>T (p.Ala65Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238415]	Chr7:30595115 [GRCh38] Chr7:30634731 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.208G>C (p.Ala70Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238416]	Chr7:30595129 [GRCh38] Chr7:30634745 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.234G>A (p.Val78=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238417]	Chr7:30598807 [GRCh38] Chr7:30638423 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.315G>A (p.Leu105=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238418]	Chr7:30598888 [GRCh38] Chr7:30638504 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.324+19A>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238419]	Chr7:30598916 [GRCh38] Chr7:30638532 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.348T>G (p.Asp116Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238420]	Chr7:30599970 [GRCh38] Chr7:30639586 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.362G>A (p.Arg121Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238421]	Chr7:30599984 [GRCh38] Chr7:30639600 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.406C>A (p.Gln136Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238422]	Chr7:30600028 [GRCh38] Chr7:30639644 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.427+12A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238424]	Chr7:30600061 [GRCh38] Chr7:30639677 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.585A>T (p.Val195=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238428]	Chr7:30603049 [GRCh38] Chr7:30642665 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.637C>T (p.Arg213Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238431]\|not provided [RCV002511138]	Chr7:30603101 [GRCh38] Chr7:30642717 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.658+17C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238432]	Chr7:30603139 [GRCh38] Chr7:30642755 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.659-3del	deletion	Charcot-Marie-Tooth disease type 2 [RCV002238433]	Chr7:30603493 [GRCh38] Chr7:30643109 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.710C>A (p.Ser237Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238436]	Chr7:30603547 [GRCh38] Chr7:30643163 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.881+20T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238439]	Chr7:30609750 [GRCh38] Chr7:30649366 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.972C>T (p.Ala324=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238442]	Chr7:30612186 [GRCh38] Chr7:30651802 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1227C>A (p.Phe409Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238448]	Chr7:30617146 [GRCh38] Chr7:30656762 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1268C>T (p.Ser423Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238450]	Chr7:30617187 [GRCh38] Chr7:30656803 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1341A>G (p.Ala447=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238451]	Chr7:30617260 [GRCh38] Chr7:30656876 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1379G>C (p.Gly460Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238452]\|not provided [RCV003126204]	Chr7:30621412 [GRCh38] Chr7:30661028 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1391_1407del (p.Arg464fs)	deletion	Charcot-Marie-Tooth disease type 2 [RCV002238453]	Chr7:30621422..30621438 [GRCh38] Chr7:30661038..30661054 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1581T>A (p.Ile527=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238459]	Chr7:30622430 [GRCh38] Chr7:30662046 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1663A>G (p.Met555Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238460]\|Inborn genetic diseases [RCV002463128]	Chr7:30626283 [GRCh38] Chr7:30665899 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.1960A>G (p.Ile654Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238470]	Chr7:30632303 [GRCh38] Chr7:30671919 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1981A>G (p.Thr661Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238472]	Chr7:30632324 [GRCh38] Chr7:30671940 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2029G>C (p.Val677Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238473]	Chr7:30632372 [GRCh38] Chr7:30671988 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2182G>A (p.Gly728Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238475]	Chr7:30633822 [GRCh38] Chr7:30673438 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.516_517delinsTA (p.Glu172_Glu173delinsAspLys)	indel	Charcot-Marie-Tooth disease type 2 [RCV002239498]	Chr7:30601147..30601148 [GRCh38] Chr7:30640763..30640764 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.534C>G (p.Ile178Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239499]	Chr7:30601165 [GRCh38] Chr7:30640781 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.569+20T>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239502]	Chr7:30601220 [GRCh38] Chr7:30640836 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1042A>G (p.Met348Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239505]	Chr7:30615906 [GRCh38] Chr7:30655522 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1827T>C (p.Ala609=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239513]	Chr7:30631465 [GRCh38] Chr7:30671081 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.481A>G (p.Ile161Val)	single nucleotide variant	not provided [RCV002273379]	Chr7:30601112 [GRCh38] Chr7:30640728 [GRCh37] Chr7:7p14.3	uncertain significance
NC_000007.13:g.(?_30655492)_(31018859_?)dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV002238224]	Chr7:30655492..31018859 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.108C>T (p.Leu36=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238407]	Chr7:30595029 [GRCh38] Chr7:30634645 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.110del (p.Ser37fs)	deletion	Charcot-Marie-Tooth disease type 2 [RCV002238409]	Chr7:30595031 [GRCh38] Chr7:30634647 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.114G>T (p.Ala38=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238411]	Chr7:30595035 [GRCh38] Chr7:30634651 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.427+14G>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238425]	Chr7:30600063 [GRCh38] Chr7:30639679 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.436G>A (p.Gly146Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238426]	Chr7:30601067 [GRCh38] Chr7:30640683 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.614_615delinsTA (p.Asp205Val)	indel	Charcot-Marie-Tooth disease type 2 [RCV002238429]	Chr7:30603078..30603079 [GRCh38] Chr7:30642694..30642695 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.662A>G (p.His221Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238434]\|Inborn genetic diseases [RCV003339938]\|not provided [RCV003128849]	Chr7:30603499 [GRCh38] Chr7:30643115 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.953A>T (p.Lys318Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238440]	Chr7:30612167 [GRCh38] Chr7:30651783 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.968C>T (p.Ala323Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238441]	Chr7:30612182 [GRCh38] Chr7:30651798 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1031+6G>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238444]	Chr7:30612251 [GRCh38] Chr7:30651867 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1154A>G (p.Gln385Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238445]\|Inborn genetic diseases [RCV003089230]	Chr7:30616018 [GRCh38] Chr7:30655634 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1195-19T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238447]	Chr7:30617095 [GRCh38] Chr7:30656711 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1254G>A (p.Thr418=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238449]	Chr7:30617173 [GRCh38] Chr7:30656789 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1396T>C (p.Cys466Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238454]	Chr7:30621429 [GRCh38] Chr7:30661045 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1397G>T (p.Cys466Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238455]	Chr7:30621430 [GRCh38] Chr7:30661046 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1533T>C (p.Asp511=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238457]\|not provided [RCV003491058]	Chr7:30622382 [GRCh38] Chr7:30661998 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.1745G>A (p.Gly582Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238462]	Chr7:30628605 [GRCh38] Chr7:30668221 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1854C>T (p.Val618=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238465]	Chr7:30631492 [GRCh38] Chr7:30671108 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1902A>G (p.Leu634=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238466]	Chr7:30631540 [GRCh38] Chr7:30671156 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1903+18G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238467]	Chr7:30631559 [GRCh38] Chr7:30671175 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1903+19G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238468]	Chr7:30631560 [GRCh38] Chr7:30671176 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.2188G>C (p.Glu730Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238476]	Chr7:30633828 [GRCh38] Chr7:30673444 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2206A>G (p.Thr736Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002238477]	Chr7:30633846 [GRCh38] Chr7:30673462 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.87G>T (p.Ser29=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239493]	Chr7:30595008 [GRCh38] Chr7:30634624 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.101G>A (p.Arg34Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239494]\|not specified [RCV003403736]	Chr7:30595022 [GRCh38] Chr7:30634638 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.250G>A (p.Asp84Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239495]	Chr7:30598823 [GRCh38] Chr7:30638439 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.300C>G (p.Ala100=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239496]	Chr7:30598873 [GRCh38] Chr7:30638489 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.534C>T (p.Ile178=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239500]	Chr7:30601165 [GRCh38] Chr7:30640781 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1068T>A (p.Asp356Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239507]	Chr7:30615932 [GRCh38] Chr7:30655548 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1107A>C (p.Ala369=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239508]	Chr7:30615971 [GRCh38] Chr7:30655587 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1432G>A (p.Val478Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239509]	Chr7:30621465 [GRCh38] Chr7:30661081 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1433T>A (p.Val478Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239510]	Chr7:30621466 [GRCh38] Chr7:30661082 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1440T>C (p.Leu480=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239511]	Chr7:30621473 [GRCh38] Chr7:30661089 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1468-1C>G	single nucleotide variant	not provided [RCV001757566]	Chr7:30622316 [GRCh38] Chr7:30661932 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1015G>A (p.Gly339Arg)	single nucleotide variant	Neuronopathy, distal hereditary motor, type 5A [RCV003314018]\|not provided [RCV001786273]	Chr7:30612229 [GRCh38] Chr7:30651845 [GRCh37] Chr7:7p14.3	pathogenic\|likely pathogenic
NM_002047.4(GARS1):c.1708G>A (p.Val570Ile)	single nucleotide variant	not provided [RCV001753238]	Chr7:30628568 [GRCh38] Chr7:30668184 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2168A>G (p.Tyr723Cys)	single nucleotide variant	not provided [RCV001812589]	Chr7:30633808 [GRCh38] Chr7:30673424 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1296C>A (p.His432Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV001795833]	Chr7:30617215 [GRCh38] Chr7:30656831 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1859C>T (p.Pro620Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002544215]\|not provided [RCV001776682]	Chr7:30631497 [GRCh38] Chr7:30671113 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1495C>T (p.Pro499Ser)	single nucleotide variant	not provided [RCV001776865]	Chr7:30622344 [GRCh38] Chr7:30661960 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2064C>T (p.Asp688=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003772124]\|not provided [RCV001776964]	Chr7:30632407 [GRCh38] Chr7:30672023 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.2096T>A (p.Ile699Asn)	single nucleotide variant	not provided [RCV001777105]	Chr7:30633736 [GRCh38] Chr7:30673352 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.614A>T (p.Asp205Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002541390]\|not provided [RCV001806928]	Chr7:30603078 [GRCh38] Chr7:30642694 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1007C>A (p.Pro336His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV001838853]	Chr7:30612221 [GRCh38] Chr7:30651837 [GRCh37] Chr7:7p14.3	pathogenic
GRCh37/hg19 7p14.3(chr7:30404217-30782235)	copy number gain	not specified [RCV002053678]	Chr7:30404217..30782235 [GRCh37] Chr7:7p14.3	uncertain significance
GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	copy number gain	not specified [RCV002053677]	Chr7:27507832..39072473 [GRCh37] Chr7:7p15.2-14.1	likely pathogenic
NC_000007.13:g.(?_30054351)_(31018859_?)dup	duplication	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type [RCV001911803]	Chr7:30054351..31018859 [GRCh37] Chr7:7p14.3	uncertain significance
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	copy number gain	not specified [RCV002053668]	Chr7:10745750..35305167 [GRCh37] Chr7:7p21.3-14.2	likely pathogenic
NM_002047.4(GARS1):c.155G>A (p.Arg52Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV002225164]	Chr7:30595076 [GRCh38] Chr7:30634692 [GRCh37] Chr7:7p14.3	uncertain significance
Single allele	complex	Ring chromosome 7 [RCV002280646]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_002047.4(GARS1):c.801T>G (p.Ile267Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003112541]	Chr7:30609650 [GRCh38] Chr7:30649266 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.48G>A (p.Leu16=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003117903]	Chr7:30594969 [GRCh38] Chr7:30634585 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.101G>T (p.Arg34Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003119362]	Chr7:30595022 [GRCh38] Chr7:30634638 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.222+17C>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003121632]	Chr7:30595160 [GRCh38] Chr7:30634776 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1625T>C (p.Ile542Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745553]\|Pes cavus [RCV003150849]	Chr7:30626245 [GRCh38] Chr7:30665861 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1524T>G (p.Tyr508Ter)	single nucleotide variant	not provided [RCV003130984]	Chr7:30622373 [GRCh38] Chr7:30661989 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1095C>G (p.Phe365Leu)	single nucleotide variant	not provided [RCV003231677]	Chr7:30615959 [GRCh38] Chr7:30655575 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.977T>C (p.Ile326Thr)	single nucleotide variant	Neuronopathy, distal hereditary motor, type 5A [RCV002290104]	Chr7:30612191 [GRCh38] Chr7:30651807 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.100C>T (p.Arg34Trp)	single nucleotide variant	Inborn genetic diseases [RCV002463187]\|not provided [RCV002269500]	Chr7:30595021 [GRCh38] Chr7:30634637 [GRCh37] Chr7:7p14.3	uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	copy number loss	See cases [RCV002287832]	Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3	uncertain significance
GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	copy number loss	Cyclical vomiting syndrome [RCV002280775]	Chr7:25451740..33864069 [GRCh37] Chr7:7p15.3-14.3	pathogenic
NM_002047.4(GARS1):c.553C>G (p.Pro185Ala)	single nucleotide variant	not provided [RCV002282987]	Chr7:30601184 [GRCh38] Chr7:30640800 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1004C>T (p.Ser335Phe)	single nucleotide variant	Neuronopathy, distal hereditary motor, type 5A [RCV003152933]	Chr7:30612218 [GRCh38] Chr7:30651834 [GRCh37] Chr7:7p14.3	uncertain significance
GRCh37/hg19 7p14.3(chr7:30567050-31415774)x3	copy number gain	not provided [RCV002474912]	Chr7:30567050..31415774 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2209A>G (p.Ile737Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003103064]\|Inborn genetic diseases [RCV002460494]	Chr7:30633849 [GRCh38] Chr7:30673465 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1963G>A (p.Gly655Arg)	single nucleotide variant	Inborn genetic diseases [RCV002460544]	Chr7:30632306 [GRCh38] Chr7:30671922 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1010G>A (p.Arg337Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003775469]\|Inborn genetic diseases [RCV002460732]	Chr7:30612224 [GRCh38] Chr7:30651840 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1462G>T (p.Glu488Ter)	single nucleotide variant	Inborn genetic diseases [RCV002460746]	Chr7:30621495 [GRCh38] Chr7:30661111 [GRCh37] Chr7:7p14.3	pathogenic
NM_002047.4(GARS1):c.1904C>G (p.Ser635Trp)	single nucleotide variant	Inborn genetic diseases [RCV002460803]	Chr7:30632247 [GRCh38] Chr7:30671863 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.764C>G (p.Ala255Gly)	single nucleotide variant	Inborn genetic diseases [RCV002460401]	Chr7:30609613 [GRCh38] Chr7:30649229 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.20T>G (p.Val7Gly)	single nucleotide variant	Inborn genetic diseases [RCV002460420]	Chr7:30594941 [GRCh38] Chr7:30634557 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1312G>A (p.Ala438Thr)	single nucleotide variant	Inborn genetic diseases [RCV002460526]	Chr7:30617231 [GRCh38] Chr7:30656847 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2078G>A (p.Arg693Gln)	single nucleotide variant	Inborn genetic diseases [RCV002460591]\|not provided [RCV003134437]	Chr7:30632421 [GRCh38] Chr7:30672037 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.460G>A (p.Gly154Ser)	single nucleotide variant	Inborn genetic diseases [RCV002460527]	Chr7:30601091 [GRCh38] Chr7:30640707 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1904-5G>A	single nucleotide variant	Inborn genetic diseases [RCV002460661]	Chr7:30632242 [GRCh38] Chr7:30671858 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.606G>A (p.Met202Ile)	single nucleotide variant	Inborn genetic diseases [RCV002460566]	Chr7:30603070 [GRCh38] Chr7:30642686 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1613+3A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002681342]	Chr7:30622465 [GRCh38] Chr7:30662081 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.685AAG[1] (p.Lys230del)	microsatellite	Charcot-Marie-Tooth disease type 2 [RCV002751494]	Chr7:30603522..30603524 [GRCh38] Chr7:30643138..30643140 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.658+18C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002616798]	Chr7:30603140 [GRCh38] Chr7:30642756 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1675A>G (p.Lys559Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002776163]	Chr7:30626295 [GRCh38] Chr7:30665911 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2094+12T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002972550]	Chr7:30632449 [GRCh38] Chr7:30672065 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.878C>T (p.Pro293Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002685832]	Chr7:30609727 [GRCh38] Chr7:30649343 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2219G>A (p.Ter740=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003074453]	Chr7:30633859 [GRCh38] Chr7:30673475 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.31G>A (p.Gly11Ser)	single nucleotide variant	Inborn genetic diseases [RCV002461550]	Chr7:30594952 [GRCh38] Chr7:30634568 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1914G>A (p.Leu638=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002617647]	Chr7:30632257 [GRCh38] Chr7:30671873 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1264A>C (p.Ile422Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002880287]	Chr7:30617183 [GRCh38] Chr7:30656799 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2095-16C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002880847]	Chr7:30633719 [GRCh38] Chr7:30673335 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1381T>C (p.Cys461Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002863635]	Chr7:30621414 [GRCh38] Chr7:30661030 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1885C>G (p.Pro629Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003013240]	Chr7:30631523 [GRCh38] Chr7:30671139 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1007C>T (p.Pro336Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003032499]	Chr7:30612221 [GRCh38] Chr7:30651837 [GRCh37] Chr7:7p14.3	likely pathogenic
NM_002047.4(GARS1):c.701A>G (p.Glu234Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002863370]	Chr7:30603538 [GRCh38] Chr7:30643154 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1904-11A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002862903]	Chr7:30632236 [GRCh38] Chr7:30671852 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.982A>G (p.Asn328Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002730896]	Chr7:30612196 [GRCh38] Chr7:30651812 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2187A>G (p.Gln729=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003076798]	Chr7:30633827 [GRCh38] Chr7:30673443 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.885C>T (p.Tyr295=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003034231]	Chr7:30612099 [GRCh38] Chr7:30651715 [GRCh37] Chr7:7p14.3	likely benign
GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1	copy number loss	not provided [RCV002475752]	Chr7:27133786..34466477 [GRCh37] Chr7:7p15.2-14.3	pathogenic
NM_002047.4(GARS1):c.308G>C (p.Arg103Thr)	single nucleotide variant	Inborn genetic diseases [RCV002460867]	Chr7:30598881 [GRCh38] Chr7:30638497 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.286G>A (p.Ala96Thr)	single nucleotide variant	Inborn genetic diseases [RCV002883412]	Chr7:30598859 [GRCh38] Chr7:30638475 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.223-5G>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002726821]	Chr7:30598791 [GRCh38] Chr7:30638407 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1348A>G (p.Lys450Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002889822]	Chr7:30617267 [GRCh38] Chr7:30656883 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.311T>C (p.Val104Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002623012]	Chr7:30598884 [GRCh38] Chr7:30638500 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1168A>G (p.Met390Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002927503]	Chr7:30616032 [GRCh38] Chr7:30655648 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1067A>G (p.Asp356Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003080302]	Chr7:30615931 [GRCh38] Chr7:30655547 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.642T>C (p.Ala214=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003100242]	Chr7:30603106 [GRCh38] Chr7:30642722 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1744_1745delinsAA (p.Gly582Asn)	indel	Charcot-Marie-Tooth disease type 2 [RCV002867206]	Chr7:30628604..30628605 [GRCh38] Chr7:30668220..30668221 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.736-17C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002636893]	Chr7:30609568 [GRCh38] Chr7:30649184 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.2005G>A (p.Gly669Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003036786]	Chr7:30632348 [GRCh38] Chr7:30671964 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.93_94delinsCG (p.Leu32Val)	indel	Charcot-Marie-Tooth disease type 2 [RCV002820807]	Chr7:30595014..30595015 [GRCh38] Chr7:30634630..30634631 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2094+18T>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002846360]	Chr7:30632455 [GRCh38] Chr7:30672071 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.861G>T (p.Gly287=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002976070]	Chr7:30609710 [GRCh38] Chr7:30649326 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.17C>T (p.Pro6Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002847220]	Chr7:30594938 [GRCh38] Chr7:30634554 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1031+19T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002820310]	Chr7:30612264 [GRCh38] Chr7:30651880 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1531G>C (p.Asp511His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003036763]	Chr7:30622380 [GRCh38] Chr7:30661996 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1195-8T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003036811]	Chr7:30617106 [GRCh38] Chr7:30656722 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.194C>A (p.Ala65Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002909217]	Chr7:30595115 [GRCh38] Chr7:30634731 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1748G>A (p.Arg583Lys)	single nucleotide variant	Inborn genetic diseases [RCV002925307]	Chr7:30628608 [GRCh38] Chr7:30668224 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.658+20T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002927185]	Chr7:30603142 [GRCh38] Chr7:30642758 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.695C>T (p.Ser232Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002691033]	Chr7:30603532 [GRCh38] Chr7:30643148 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1372A>G (p.Ile458Val)	single nucleotide variant	Inborn genetic diseases [RCV002737217]	Chr7:30621405 [GRCh38] Chr7:30661021 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1613+10C>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003054554]	Chr7:30622472 [GRCh38] Chr7:30662088 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1032-6T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002785265]	Chr7:30615890 [GRCh38] Chr7:30655506 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.873C>T (p.Asn291=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002690559]	Chr7:30609722 [GRCh38] Chr7:30649338 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.2074A>G (p.Met692Val)	single nucleotide variant	Neuronopathy, distal hereditary motor, type 5A [RCV002795946]	Chr7:30632417 [GRCh38] Chr7:30672033 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2159A>T (p.Glu720Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002958918]	Chr7:30633799 [GRCh38] Chr7:30673415 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.770T>A (p.Leu257His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002668028]	Chr7:30609619 [GRCh38] Chr7:30649235 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1409C>G (p.Ser470Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003059694]	Chr7:30621442 [GRCh38] Chr7:30661058 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.463T>A (p.Cys155Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002894020]	Chr7:30601094 [GRCh38] Chr7:30640710 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.735+14A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002828548]	Chr7:30603586 [GRCh38] Chr7:30643202 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.261C>T (p.Pro87=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003085933]	Chr7:30598834 [GRCh38] Chr7:30638450 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.376G>A (p.Asp126Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002791483]\|Neuronopathy, distal hereditary motor, type 5A [RCV003147789]	Chr7:30599998 [GRCh38] Chr7:30639614 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1411T>A (p.Cys471Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003006319]	Chr7:30621444 [GRCh38] Chr7:30661060 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2198A>T (p.Lys733Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002852699]	Chr7:30633838 [GRCh38] Chr7:30673454 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.164T>C (p.Met55Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002852172]	Chr7:30595085 [GRCh38] Chr7:30634701 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1447G>A (p.Glu483Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003057760]	Chr7:30621480 [GRCh38] Chr7:30661096 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1467+11T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003056775]	Chr7:30621511 [GRCh38] Chr7:30661127 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1695A>G (p.Leu565=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002711503]	Chr7:30626315 [GRCh38] Chr7:30665931 [GRCh37] Chr7:7p14.3	likely benign\|uncertain significance
NM_002047.4(GARS1):c.1176G>A (p.Leu392=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002623294]	Chr7:30616040 [GRCh38] Chr7:30655656 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.641C>A (p.Ala214Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002791234]	Chr7:30603105 [GRCh38] Chr7:30642721 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1810-12T>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002700339]	Chr7:30631436 [GRCh38] Chr7:30671052 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.141C>A (p.Pro47=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002572949]	Chr7:30595062 [GRCh38] Chr7:30634678 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.104C>T (p.Ser35Phe)	single nucleotide variant	Inborn genetic diseases [RCV002805149]	Chr7:30595025 [GRCh38] Chr7:30634641 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.11C>G (p.Pro4Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002575433]	Chr7:30594932 [GRCh38] Chr7:30634548 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.418A>G (p.Ile140Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002699991]	Chr7:30600040 [GRCh38] Chr7:30639656 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1608G>A (p.Glu536=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002966267]	Chr7:30622457 [GRCh38] Chr7:30662073 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1235G>A (p.Arg412His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002650242]	Chr7:30617154 [GRCh38] Chr7:30656770 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.972C>A (p.Ala324=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003090224]	Chr7:30612186 [GRCh38] Chr7:30651802 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.218A>T (p.Gln73Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002632538]	Chr7:30595139 [GRCh38] Chr7:30634755 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.736-13A>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002811986]	Chr7:30609572 [GRCh38] Chr7:30649188 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1614-13T>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003048807]	Chr7:30626221 [GRCh38] Chr7:30665837 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1785A>G (p.Val595=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003011510]	Chr7:30628645 [GRCh38] Chr7:30668261 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.428-9A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003089555]	Chr7:30601050 [GRCh38] Chr7:30640666 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.189G>C (p.Val63=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002647186]	Chr7:30595110 [GRCh38] Chr7:30634726 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1817G>C (p.Ser606Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002922024]	Chr7:30631455 [GRCh38] Chr7:30671071 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1359+17T>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003088808]	Chr7:30617295 [GRCh38] Chr7:30656911 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.884dup (p.Tyr295Ter)	duplication	Charcot-Marie-Tooth disease type 2 [RCV003029503]	Chr7:30612097..30612098 [GRCh38] Chr7:30651713..30651714 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1719T>C (p.Asn573=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002937714]	Chr7:30628579 [GRCh38] Chr7:30668195 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1468-20A>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002963372]	Chr7:30622297 [GRCh38] Chr7:30661913 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.222+6G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002857562]	Chr7:30595149 [GRCh38] Chr7:30634765 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1575C>T (p.Cys525=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002582595]	Chr7:30622424 [GRCh38] Chr7:30662040 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1194+12G>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002584180]	Chr7:30616070 [GRCh38] Chr7:30655686 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.857T>C (p.Ile286Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002584806]	Chr7:30609706 [GRCh38] Chr7:30649322 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.375A>G (p.Glu125=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002587618]	Chr7:30599997 [GRCh38] Chr7:30639613 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1903+15T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002942448]	Chr7:30631556 [GRCh38] Chr7:30671172 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.750A>C (p.Gly250=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002633572]	Chr7:30609599 [GRCh38] Chr7:30649215 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.2062G>C (p.Asp688His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002611334]	Chr7:30632405 [GRCh38] Chr7:30672021 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.569+12C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002634003]	Chr7:30601212 [GRCh38] Chr7:30640828 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.2073_2074del (p.Met692fs)	deletion	Charcot-Marie-Tooth disease type 2 [RCV002612319]	Chr7:30632416..30632417 [GRCh38] Chr7:30672032..30672033 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1614-17_1614-16del	microsatellite	Charcot-Marie-Tooth disease type 2 [RCV002633327]	Chr7:30626214..30626215 [GRCh38] Chr7:30665830..30665831 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.481ATT[1] (p.Ile162del)	microsatellite	Inborn genetic diseases [RCV003257417]	Chr7:30601111..30601113 [GRCh38] Chr7:30640727..30640729 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1465C>T (p.Pro489Ser)	single nucleotide variant	not provided [RCV003229129]	Chr7:30621498 [GRCh38] Chr7:30661114 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2050G>A (p.Ala684Thr)	single nucleotide variant	Inborn genetic diseases [RCV003215642]	Chr7:30632393 [GRCh38] Chr7:30672009 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.76del (p.Ala26fs)	deletion	not provided [RCV003135323]	Chr7:30594997 [GRCh38] Chr7:30634613 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.181G>C (p.Glu61Gln)	single nucleotide variant	not provided [RCV003135324]	Chr7:30595102 [GRCh38] Chr7:30634718 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1697A>G (p.Tyr566Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003779947]\|Inborn genetic diseases [RCV003261335]	Chr7:30626317 [GRCh38] Chr7:30665933 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1474G>A (p.Val492Ile)	single nucleotide variant	not provided [RCV003229433]	Chr7:30622323 [GRCh38] Chr7:30661939 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1787G>A (p.Arg596Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV003447406]	Chr7:30628647 [GRCh38] Chr7:30668263 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.166G>A (p.Asp56Asn)	single nucleotide variant	not provided [RCV003487861]	Chr7:30595087 [GRCh38] Chr7:30634703 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.684T>A (p.Asp228Glu)	single nucleotide variant	not provided [RCV003457498]	Chr7:30603521 [GRCh38] Chr7:30643137 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.656A>C (p.Lys219Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745605]\|not provided [RCV003482476]	Chr7:30603120 [GRCh38] Chr7:30642736 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1304A>G (p.Asn435Ser)	single nucleotide variant	not specified [RCV003479587]	Chr7:30617223 [GRCh38] Chr7:30656839 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.49_51del	deletion	not provided [RCV003436703]	Chr7:30633897..30633899 [GRCh38] Chr7:30673513..30673515 [GRCh37] Chr7:7p14.3	benign
NM_002047.4(GARS1):c.1393del (p.Ser465fs)	deletion	Charcot-Marie-Tooth disease type 2D [RCV003447405]	Chr7:30621425 [GRCh38] Chr7:30661041 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1955G>A (p.Gly652Glu)	single nucleotide variant	not provided [RCV003436702]	Chr7:30632298 [GRCh38] Chr7:30671914 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.520C>G (p.Gln174Glu)	single nucleotide variant	not provided [RCV003481835]	Chr7:30601151 [GRCh38] Chr7:30640767 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.428-6_432del	deletion	GARS1-related condition [RCV003400050]	Chr7:30601051..30601061 [GRCh38] Chr7:30640667..30640677 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1812C>A (p.Phe604Leu)	single nucleotide variant	not provided [RCV003482696]	Chr7:30631450 [GRCh38] Chr7:30671066 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.718G>C (p.Glu240Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2D [RCV003447407]	Chr7:30603555 [GRCh38] Chr7:30643171 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.983A>G (p.Asn328Ser)	single nucleotide variant	not provided [RCV003436700]	Chr7:30612197 [GRCh38] Chr7:30651813 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1194+2T>G	single nucleotide variant	not provided [RCV003436701]	Chr7:30616060 [GRCh38] Chr7:30655676 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1529A>G (p.Lys510Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003881476]	Chr7:30622378 [GRCh38] Chr7:30661994 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1995C>T (p.Gly665=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003879802]	Chr7:30632338 [GRCh38] Chr7:30671954 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1031+9C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003877175]	Chr7:30612254 [GRCh38] Chr7:30651870 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.944A>G (p.Asn315Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003879901]	Chr7:30612158 [GRCh38] Chr7:30651774 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.212T>C (p.Val71Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003881422]	Chr7:30595133 [GRCh38] Chr7:30634749 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1646T>C (p.Phe549Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003877487]	Chr7:30626266 [GRCh38] Chr7:30665882 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.736-13A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582702]	Chr7:30609572 [GRCh38] Chr7:30649188 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.969T>G (p.Ala323=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745180]\|GARS1-related condition [RCV003981107]	Chr7:30612183 [GRCh38] Chr7:30651799 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1017A>G (p.Gly339=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581448]	Chr7:30612231 [GRCh38] Chr7:30651847 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.999G>C (p.Glu333Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581439]	Chr7:30612213 [GRCh38] Chr7:30651829 [GRCh37] Chr7:7p14.3	pathogenic
NM_002047.4(GARS1):c.900T>C (p.Thr300=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581348]	Chr7:30612114 [GRCh38] Chr7:30651730 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.909G>C (p.Gly303=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743192]	Chr7:30612123 [GRCh38] Chr7:30651739 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.633T>C (p.Cys211=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745219]	Chr7:30603097 [GRCh38] Chr7:30642713 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1428C>G (p.Thr476=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582936]	Chr7:30621461 [GRCh38] Chr7:30661077 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.735+12A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582973]	Chr7:30603584 [GRCh38] Chr7:30643200 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1172G>T (p.Arg391Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743323]	Chr7:30616036 [GRCh38] Chr7:30655652 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.474G>A (p.Lys158=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003583135]	Chr7:30601105 [GRCh38] Chr7:30640721 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1780C>T (p.His594Tyr)	single nucleotide variant	not provided [RCV003740544]	Chr7:30628640 [GRCh38] Chr7:30668256 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.117C>T (p.Ala39=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743476]	Chr7:30595038 [GRCh38] Chr7:30634654 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1699+23_1699+26del	deletion	Charcot-Marie-Tooth disease type 2 [RCV003582010]	Chr7:30626339..30626342 [GRCh38] Chr7:30665955..30665958 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.324G>A (p.Lys108=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582063]	Chr7:30598897 [GRCh38] Chr7:30638513 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1903+16T>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582271]	Chr7:30631557 [GRCh38] Chr7:30671173 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2055T>C (p.Thr685=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744156]	Chr7:30632398 [GRCh38] Chr7:30672014 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1499G>C (p.Ser500Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582358]	Chr7:30622348 [GRCh38] Chr7:30661964 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2193T>A (p.Thr731=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582401]	Chr7:30633833 [GRCh38] Chr7:30673449 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.263A>G (p.Gln88Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581141]	Chr7:30598836 [GRCh38] Chr7:30638452 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1944C>T (p.Asp648=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581136]	Chr7:30632287 [GRCh38] Chr7:30671903 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1699+18A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581135]	Chr7:30626337 [GRCh38] Chr7:30665953 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.2049T>C (p.Thr683=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581254]	Chr7:30632392 [GRCh38] Chr7:30672008 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.570-8T>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582610]	Chr7:30603026 [GRCh38] Chr7:30642642 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.216C>T (p.Arg72=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581304]	Chr7:30595137 [GRCh38] Chr7:30634753 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.45T>G (p.Ala15=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745284]	Chr7:30594966 [GRCh38] Chr7:30634582 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1237A>G (p.Ile413Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744267]	Chr7:30617156 [GRCh38] Chr7:30656772 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.736-9G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582239]	Chr7:30609576 [GRCh38] Chr7:30649192 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1903+14A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582988]	Chr7:30631555 [GRCh38] Chr7:30671171 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1468-15T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581074]	Chr7:30622302 [GRCh38] Chr7:30661918 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1023C>T (p.Ile341=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744423]	Chr7:30612237 [GRCh38] Chr7:30651853 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.659-14C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745674]	Chr7:30603482 [GRCh38] Chr7:30643098 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1005C>T (p.Ser335=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743438]	Chr7:30612219 [GRCh38] Chr7:30651835 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.575C>G (p.Ser192Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581958]	Chr7:30603039 [GRCh38] Chr7:30642655 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.197C>G (p.Pro66Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745734]	Chr7:30595118 [GRCh38] Chr7:30634734 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1734C>T (p.Ser578=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582621]	Chr7:30628594 [GRCh38] Chr7:30668210 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1642A>C (p.Thr548Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744535]	Chr7:30626262 [GRCh38] Chr7:30665878 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.535G>A (p.Asp179Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582556]	Chr7:30601166 [GRCh38] Chr7:30640782 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1809+12T>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743522]	Chr7:30628681 [GRCh38] Chr7:30668297 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1031+10A>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744502]	Chr7:30612255 [GRCh38] Chr7:30651871 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1809+20G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581299]	Chr7:30628689 [GRCh38] Chr7:30668305 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1359+3A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745114]	Chr7:30617281 [GRCh38] Chr7:30656897 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.837C>A (p.Asn279Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581402]	Chr7:30609686 [GRCh38] Chr7:30649302 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.325-2A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745142]	Chr7:30599945 [GRCh38] Chr7:30639561 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.43G>A (p.Ala15Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745181]	Chr7:30594964 [GRCh38] Chr7:30634580 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1943A>G (p.Asp648Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744176]	Chr7:30632286 [GRCh38] Chr7:30671902 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.658+13A>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745120]	Chr7:30603135 [GRCh38] Chr7:30642751 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.80G>A (p.Arg27Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745216]	Chr7:30595001 [GRCh38] Chr7:30634617 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1088C>G (p.Pro363Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745718]	Chr7:30615952 [GRCh38] Chr7:30655568 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2010C>T (p.Val670=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743481]	Chr7:30632353 [GRCh38] Chr7:30671969 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.2037del (p.Thr680fs)	deletion	Charcot-Marie-Tooth disease type 2 [RCV003745860]	Chr7:30632380 [GRCh38] Chr7:30671996 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.145G>C (p.Ala49Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582197]	Chr7:30595066 [GRCh38] Chr7:30634682 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2165_2169del (p.Arg722fs)	deletion	Charcot-Marie-Tooth disease type 2 [RCV003744396]	Chr7:30633805..30633809 [GRCh38] Chr7:30673421..30673425 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.124C>A (p.Pro42Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582551]	Chr7:30595045 [GRCh38] Chr7:30634661 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.659C>A (p.Ala220Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003814125]	Chr7:30603496 [GRCh38] Chr7:30643112 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.895G>C (p.Glu299Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744481]	Chr7:30612109 [GRCh38] Chr7:30651725 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1510A>G (p.Ile504Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582630]	Chr7:30622359 [GRCh38] Chr7:30661975 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2110A>G (p.Ser704Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582650]	Chr7:30633750 [GRCh38] Chr7:30673366 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1700-6T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581169]	Chr7:30628554 [GRCh38] Chr7:30668170 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1592A>G (p.Glu531Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581548]	Chr7:30622441 [GRCh38] Chr7:30662057 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.784A>G (p.Asn262Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003583024]	Chr7:30609633 [GRCh38] Chr7:30649249 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.882-16T>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581338]	Chr7:30612080 [GRCh38] Chr7:30651696 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.835A>G (p.Asn279Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743163]	Chr7:30609684 [GRCh38] Chr7:30649300 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.223-5G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745082]	Chr7:30598791 [GRCh38] Chr7:30638407 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1490T>G (p.Phe497Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003583008]	Chr7:30622339 [GRCh38] Chr7:30661955 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2047A>G (p.Thr683Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582024]	Chr7:30632390 [GRCh38] Chr7:30672006 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1046C>T (p.Ala349Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745784]	Chr7:30615910 [GRCh38] Chr7:30655526 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1031+7C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745819]	Chr7:30612252 [GRCh38] Chr7:30651868 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1700-11C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003835194]	Chr7:30628549 [GRCh38] Chr7:30668165 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1041A>C (p.Thr347=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745178]	Chr7:30615905 [GRCh38] Chr7:30655521 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1810-4C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743063]	Chr7:30631444 [GRCh38] Chr7:30671060 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1970G>A (p.Arg657His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582918]	Chr7:30632313 [GRCh38] Chr7:30671929 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.751C>G (p.Gln251Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582929]	Chr7:30609600 [GRCh38] Chr7:30649216 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.689A>G (p.Lys230Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003839197]	Chr7:30603526 [GRCh38] Chr7:30643142 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1893C>G (p.Val631=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743447]	Chr7:30631531 [GRCh38] Chr7:30671147 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1109A>G (p.Asp370Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745883]	Chr7:30615973 [GRCh38] Chr7:30655589 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1743G>A (p.Leu581=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003834735]	Chr7:30628603 [GRCh38] Chr7:30668219 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1454C>G (p.Pro485Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003860089]	Chr7:30621487 [GRCh38] Chr7:30661103 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.2218T>A (p.Ter740Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003822740]	Chr7:30633858 [GRCh38] Chr7:30673474 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.154C>G (p.Arg52Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003846370]	Chr7:30595075 [GRCh38] Chr7:30634691 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1400A>T (p.Tyr467Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003857543]	Chr7:30621433 [GRCh38] Chr7:30661049 [GRCh37] Chr7:7p14.3	uncertain significance
GRCh37/hg19 7p14.3(chr7:28940557-31806164)x3	copy number gain	not specified [RCV003986729]	Chr7:28940557..31806164 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1786C>T (p.Arg596Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003819933]	Chr7:30628646 [GRCh38] Chr7:30668262 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1720G>A (p.Val574Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003746008]	Chr7:30628580 [GRCh38] Chr7:30668196 [GRCh37] Chr7:7p14.3	uncertain significance
GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	copy number loss	not specified [RCV003986712]	Chr7:17736012..30663423 [GRCh37] Chr7:7p21.1-14.3	pathogenic
NM_002047.4(GARS1):c.28A>G (p.Arg10Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003868218]	Chr7:30594949 [GRCh38] Chr7:30634565 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1903+16T>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745919]	Chr7:30631557 [GRCh38] Chr7:30671173 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.5C>T (p.Pro2Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745948]	Chr7:30594926 [GRCh38] Chr7:30634542 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.1805G>A (p.Arg602Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745975]	Chr7:30628665 [GRCh38] Chr7:30668281 [GRCh37] Chr7:7p14.3	uncertain significance
GRCh37/hg19 7p14.3(chr7:30655068-31166676)x3	copy number gain	not specified [RCV003986699]	Chr7:30655068..31166676 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.838T>C (p.Leu280=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003822919]	Chr7:30609687 [GRCh38] Chr7:30649303 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.1359+2dup	duplication	GARS1-related condition [RCV003896661]	Chr7:30617279..30617280 [GRCh38] Chr7:30656895..30656896 [GRCh37] Chr7:7p14.3	uncertain significance
NM_002047.4(GARS1):c.138G>A (p.Leu46=)	single nucleotide variant	not provided [RCV003884837]	Chr7:30595059 [GRCh38] Chr7:30634675 [GRCh37] Chr7:7p14.3	likely benign
NM_002047.4(GARS1):c.2217A>G (p.Glu739=)	single nucleotide variant	GARS1-related condition [RCV003899097]	Chr7:30633857 [GRCh38] Chr7:30673473 [GRCh37] Chr7:7p14.3	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1244
Count of miRNA genes:	715
Interacting mature miRNAs:	809
Transcripts:	ENST00000389266, ENST00000444666, ENST00000454308, ENST00000465748, ENST00000470392, ENST00000478124, ENST00000484093, ENST00000485784, ENST00000496643
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

D7S435

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	29,391,920 - 29,392,047	UniSTS	GRCh37
Celera	7	29,381,426 - 29,381,553	UniSTS
Cytogenetic Map	7	p15	UniSTS
Cytogenetic Map	7	p15.3	UniSTS
HuRef	7	29,273,587 - 29,273,718	UniSTS
CRA_TCAGchr7v2	7	29,442,126 - 29,442,253	UniSTS
Marshfield Genetic Map	7	47.08	UniSTS
Marshfield Genetic Map	7	47.08	RGD
deCODE Assembly Map	7	47.26	UniSTS
Whitehead-YAC Contig Map	7		UniSTS

D7S2836

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	30,673,490 - 30,673,641	UniSTS	GRCh37
Build 36	7	30,640,015 - 30,640,166	RGD	NCBI36
Celera	7	30,662,669 - 30,662,819	RGD
Cytogenetic Map	7	p15	UniSTS
HuRef	7	30,555,331 - 30,555,481	UniSTS
CRA_TCAGchr7v2	7	30,723,142 - 30,723,293	UniSTS
TNG Radiation Hybrid Map	7	14905.0	UniSTS
Whitehead-YAC Contig Map	7		UniSTS
GeneMap99-G3 RH Map	7	1279.0	UniSTS

D7S2049E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	30,655,652 - 30,656,792	UniSTS	GRCh37
Build 36	7	30,622,177 - 30,623,317	RGD	NCBI36
Celera	7	30,644,832 - 30,645,972	RGD
Cytogenetic Map	7	p15	UniSTS
HuRef	7	30,537,502 - 30,538,642	UniSTS
CRA_TCAGchr7v2	7	30,705,306 - 30,706,446	UniSTS

RH47187

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	30,673,379 - 30,673,509	UniSTS	GRCh37
Build 36	7	30,639,904 - 30,640,034	RGD	NCBI36
Celera	7	30,662,558 - 30,662,688	RGD
Cytogenetic Map	7	p15	UniSTS
HuRef	7	30,555,220 - 30,555,350	UniSTS
CRA_TCAGchr7v2	7	30,723,031 - 30,723,161	UniSTS
GeneMap99-GB4 RH Map	7	135.81	UniSTS

RH47185

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	30,673,378 - 30,673,509	UniSTS	GRCh37
Build 36	7	30,639,903 - 30,640,034	RGD	NCBI36
Celera	7	30,662,557 - 30,662,688	RGD
Cytogenetic Map	7	p15	UniSTS
HuRef	7	30,555,219 - 30,555,350	UniSTS
CRA_TCAGchr7v2	7	30,723,030 - 30,723,161	UniSTS
GeneMap99-GB4 RH Map	7	150.63	UniSTS
NCBI RH Map	7	499.1	UniSTS

SHGC-31691

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	30,673,364 - 30,673,492	UniSTS	GRCh37
Build 36	7	30,639,889 - 30,640,017	RGD	NCBI36
Celera	7	30,662,543 - 30,662,671	RGD
Cytogenetic Map	7	p15	UniSTS
HuRef	7	30,555,205 - 30,555,333	UniSTS
CRA_TCAGchr7v2	7	30,723,016 - 30,723,144	UniSTS
TNG Radiation Hybrid Map	7	14918.0	UniSTS
GeneMap99-GB4 RH Map	7	137.42	UniSTS
Whitehead-RH Map	7	94.2	UniSTS
NCBI RH Map	7	458.5	UniSTS

GARS

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	30,655,524 - 30,655,622	UniSTS	GRCh37
Celera	7	30,644,704 - 30,644,802	UniSTS
HuRef	7	30,537,374 - 30,537,472	UniSTS
CRA_TCAGchr7v2	7	30,705,178 - 30,705,276	UniSTS

D7S1808

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	7	p15	UniSTS
Cytogenetic Map	7	p15.2-p15.1	UniSTS
Marshfield Genetic Map	7	41.69	UniSTS
TNG Radiation Hybrid Map	7	13296.0	UniSTS
Stanford-G3 RH Map	7	1091.0	UniSTS
Whitehead-RH Map	7	79.3	UniSTS
Whitehead-YAC Contig Map	7		UniSTS
NCBI RH Map	7	454.0	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

High

Medium

2432

2809

1675

576

1876

418

4355

2093

3517

416

1448

1607

171

1204

2788

Low

176

100

203

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_007942	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001316772	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_002047	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006715686	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA464978	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AA772440	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AACC02000087	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC004976	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC005154	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC006969	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK074524	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK295490	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK310351	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000065	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007722	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007755	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471073	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D30658	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA386636	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U09510	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U09587	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000389266 ⟹ ENSP00000373918

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,878 - 30,634,033 (+)	Ensembl

RefSeq Acc Id:

ENST00000444666 ⟹ ENSP00000415447

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,897 - 30,634,033 (+)	Ensembl

RefSeq Acc Id:

ENST00000454308 ⟹ ENSP00000392677

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,864 - 30,605,448 (+)	Ensembl

RefSeq Acc Id:

ENST00000465748

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,627,380 - 30,634,033 (+)	Ensembl

RefSeq Acc Id:

ENST00000470392

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,832 - 30,634,029 (+)	Ensembl

RefSeq Acc Id:

ENST00000478124

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,859 - 30,622,934 (+)	Ensembl

RefSeq Acc Id:

ENST00000484093

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,614,256 - 30,621,678 (+)	Ensembl

RefSeq Acc Id:

ENST00000485784

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,843 - 30,633,995 (+)	Ensembl

RefSeq Acc Id:

ENST00000496643

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,628,544 - 30,634,029 (+)	Ensembl

RefSeq Acc Id:

ENST00000627489 ⟹ ENSP00000485931

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,838 - 30,595,841 (+)	Ensembl

RefSeq Acc Id:

ENST00000674616 ⟹ ENSP00000502408

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,878 - 30,634,033 (+)	Ensembl

RefSeq Acc Id:

ENST00000674643 ⟹ ENSP00000501636

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,832 - 30,634,020 (+)	Ensembl

RefSeq Acc Id:

ENST00000674734

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,602,342 - 30,623,013 (+)	Ensembl

RefSeq Acc Id:

ENST00000674737 ⟹ ENSP00000502464

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,878 - 30,634,033 (+)	Ensembl

RefSeq Acc Id:

ENST00000674807 ⟹ ENSP00000502814

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,832 - 30,633,882 (+)	Ensembl

RefSeq Acc Id:

ENST00000674815 ⟹ ENSP00000502799

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,843 - 30,634,033 (+)	Ensembl

RefSeq Acc Id:

ENST00000674851 ⟹ ENSP00000502451

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,908 - 30,634,033 (+)	Ensembl

RefSeq Acc Id:

ENST00000674969

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,882 - 30,634,026 (+)	Ensembl

RefSeq Acc Id:

ENST00000675025

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,595,796 - 30,603,087 (+)	Ensembl

RefSeq Acc Id:

ENST00000675051 ⟹ ENSP00000502296

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,580,533 - 30,633,882 (+)	Ensembl

RefSeq Acc Id:

ENST00000675529 ⟹ ENSP00000501655

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,832 - 30,633,976 (+)	Ensembl

RefSeq Acc Id:

ENST00000675587

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,906 - 30,634,025 (+)	Ensembl

RefSeq Acc Id:

ENST00000675651 ⟹ ENSP00000502513

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,878 - 30,634,033 (+)	Ensembl

RefSeq Acc Id:

ENST00000675693 ⟹ ENSP00000502174

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,878 - 30,634,033 (+)	Ensembl

RefSeq Acc Id:

ENST00000675810 ⟹ ENSP00000502743

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,833 - 30,633,884 (+)	Ensembl

RefSeq Acc Id:

ENST00000675859 ⟹ ENSP00000502033

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,878 - 30,633,932 (+)	Ensembl

RefSeq Acc Id:

ENST00000675863

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,914 - 30,634,033 (+)	Ensembl

RefSeq Acc Id:

ENST00000675886

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,894 - 30,634,033 (+)	Ensembl

RefSeq Acc Id:

ENST00000676088 ⟹ ENSP00000501884

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,838 - 30,633,976 (+)	Ensembl

RefSeq Acc Id:

ENST00000676140 ⟹ ENSP00000502571

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,878 - 30,633,874 (+)	Ensembl

RefSeq Acc Id:

ENST00000676164 ⟹ ENSP00000501986

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,889 - 30,634,024 (+)	Ensembl

RefSeq Acc Id:

ENST00000676210 ⟹ ENSP00000502373

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,843 - 30,633,874 (+)	Ensembl

RefSeq Acc Id:

ENST00000676259 ⟹ ENSP00000501980

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,878 - 30,634,033 (+)	Ensembl

RefSeq Acc Id:

ENST00000676403 ⟹ ENSP00000502681

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	30,594,843 - 30,634,033 (+)	Ensembl

RefSeq Acc Id:

NM_001316772 ⟹ NP_001303701

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	30,594,735 - 30,634,033 (+)	NCBI
CHM1_1	7	30,634,608 - 30,673,905 (+)	NCBI
T2T-CHM13v2.0	7	30,732,340 - 30,771,637 (+)	NCBI

Sequence:

show sequence

TTCGGCGGGGTCCTTCCGGGTTTTGTGTCGAATCTGCGGCGGCGACCCGGCGCCGCGTCACGCG
GTGGTGAATGTGCGGCAGCACGCGCGCCGCGTCGTTTACGCGGCGATTTCATCATGCTCCGAGC
CGGGCGGCGCGCGCCGCTTCCGTCGCCACCCTCTCTGGACAGCCCAGGGCCGCAGGCTCATGCC
CTCTCCGCGTCCAGTGCTGCTTAGAGGTGCTCGCGCCGCTCTGCTGCTGCTGCTGCCGCCCCGG
CTCTTAGCCCGACCCTCGCTCCTGCTCCGCCGGTCCCTCAGCGCGGCCTCCTGCCCCCCGATCT
CCTTGCCCGCCGCCGCCTCCCGGAGCAGCATGGACGGCGCGGGGGCTGAGGAGGTGCTGGCACC
TCTGAGGCTAGCAGTGCGCCAGCAGGGAGATCTTGTGCGAAAACTCAAAGAAGATAAAGCACCC
CAAGTAGACGTAGACAAAGCAGTGGCTGAGCTCAAAGCCCGCAAGAGGGTTCTGGAAGCAAAGG
AGCTGGCGTTACAGCCCAAAGATGATATTGTAGACCGAGCAAAAATGGAAGATACCCTGAAGAG
GAGGTTTTTCTATGATCAAGCTTTTGCTATTTATGGAGGTGTTAGTGGTCTGTATGACTTTGGG
CCAGTTGGCTGTGCTTTGAAGAACAATATTATTCAGACCTGGAGGCAGCACTTTATCCAAGAGG
AACAGATCCTGGAGATCGATTGCACCATGCTCACCCCTGAGCCAGTTTTAAAGACCTCTGGCCA
TGTAGACAAATTTGCTGACTTCATGGTGAAAGACGTAAAAAATGGAGAATGTTTTCGTGCTGAC
CATCTATTAAAAGCTCATTTACAGAAATTGATGTCTGATAAGAAGTGTTCTGTCGAAAAGAAAT
CAGAAATGGAAAGTGTTTTGGCCCAGCTTGATAACTATGGACAGCAAGAACTTGCGGATCTTTT
TGTGAACTATAATGTAAAATCTCCCATTACTGGAAATGATCTATCCCCTCCAGTGTCTTTTAAC
TTAATGTTCAAGACTTTCATTGGGCCTGGAGGAAACATGCCTGGGTACTTGAGACCAGAAACTG
CACAGGGGATTTTCTTGAATTTCAAACGACTTTTGGAGTTCAACCAAGGAAAGTTGCCTTTTGC
TGCTGCCCAGATTGGAAATTCTTTTAGAAATGAGATCTCCCCTCGATCTGGACTGATCAGAGTC
AGAGAATTCACAATGGCAGAAATTGAGCACTTTGTAGATCCCAGTGAGAAAGACCACCCCAAGT
TCCAGAATGTGGCAGACCTTCACCTTTATTTGTATTCAGCAAAAGCCCAGGTCAGCGGACAGTC
CGCTCGGAAAATGCGCCTGGGAGATGCTGTTGAACAGGGTGTGATTAATAACACAGTATTAGGC
TATTTCATTGGCCGCATCTACCTCTACCTCACGAAGGTTGGAATATCTCCAGATAAACTCCGCT
TCCGGCAGCACATGGAGAATGAGATGGCCCATTATGCCTGTGACTGTTGGGATGCAGAATCCAA
AACATCCTACGGTTGGATTGAGATTGTTGGATGTGCTGATCGTTCCTGTTATGACCTCTCCTGT
CATGCACGAGCCACCAAAGTCCCACTTGTAGCTGAGAAACCTCTGAAAGAACCCAAAACAGTCA
ATGTTGTTCAGTTTGAACCCAGTAAGGGAGCAATTGGTAAGGCATATAAGAAGGATGCAAAACT
GGTGATGGAGTATCTTGCCATTTGTGATGAGTGCTACATTACAGAAATGGAGATGCTGCTGAAT
GAGAAAGGGGAATTCACAATTGAAACTGAAGGGAAAACATTTCAGTTAACAAAAGACATGATCA
ATGTGAAGAGATTCCAGAAAACACTATATGTGGAAGAAGTTGTTCCGAATGTAATTGAACCTTC
CTTCGGCCTGGGTAGGATCATGTATACGGTATTTGAACATACATTCCATGTACGAGAAGGAGAT
GAACAGAGAACATTCTTCAGTTTCCCTGCTGTAGTTGCTCCATTCAAATGTTCCGTCCTCCCAC
TGAGCCAAAACCAGGAGTTCATGCCATTTGTCAAGGAATTATCGGAAGCCCTGACCAGGCATGG
AGTATCTCACAAAGTAGACGATTCCTCTGGGTCAATCGGAAGGCGCTATGCCAGGACTGATGAG
ATTGGCGTGGCTTTTGGTGTCACCATTGACTTTGACACAGTGAACAAGACCCCCCACACTGCAA
CTCTGAGGGACCGTGACTCAATGCGGCAGATAAGAGCAGAGATCTCTGAGCTGCCCAGCATAGT
CCAAGACCTAGCCAATGGCAACATCACATGGGCTGATGTGGAGGCCAGGTATCCTCTGTTTGAA
GGGCAAGAGACTGGTAAAAAAGAGACAATCGAGGAATGAGGACAATTTTGACAACTTTTGACCA
CTTGCGCTAATAAAAAAAAAAAAAAACTACTCTTATGTCCACTTTACAAAAGAAAACAGCATTG
TGATTACTCCCAGGGACCGTATTTTATCTTCAGTGGCTGCCTGATTTTACCCCCACAATTAAAG
TTGAAGGAATCCTGAACAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_002047 ⟹ NP_002038

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	30,594,878 - 30,634,033 (+)	NCBI
GRCh37	7	30,634,181 - 30,673,649 (+)	ENTREZGENE
Build 36	7	30,600,706 - 30,640,174 (+)	NCBI Archive
HuRef	7	30,516,030 - 30,555,489 (+)	ENTREZGENE
CHM1_1	7	30,634,766 - 30,673,905 (+)	NCBI
T2T-CHM13v2.0	7	30,732,483 - 30,771,637 (+)	NCBI
CRA_TCAGchr7v2	7	30,683,834 - 30,723,301 (+)	ENTREZGENE

Sequence:

show sequence

GCTTCCGTCGCCACCCTCTCTGGACAGCCCAGGGCCGCAGGCTCATGCCCTCTCCGCGTCCAGT
GCTGCTTAGAGGTGCTCGCGCCGCTCTGCTGCTGCTGCTGCCGCCCCGGCTCTTAGCCCGACCC
TCGCTCCTGCTCCGCCGGTCCCTCAGCGCGGCCTCCTGCCCCCCGATCTCCTTGCCCGCCGCCG
CCTCCCGGAGCAGCATGGACGGCGCGGGGGCTGAGGAGGTGCTGGCACCTCTGAGGCTAGCAGT
GCGCCAGCAGGGAGATCTTGTGCGAAAACTCAAAGAAGATAAAGCACCCCAAGTAGACGTAGAC
AAAGCAGTGGCTGAGCTCAAAGCCCGCAAGAGGGTTCTGGAAGCAAAGGAGCTGGCGTTACAGC
CCAAAGATGATATTGTAGACCGAGCAAAAATGGAAGATACCCTGAAGAGGAGGTTTTTCTATGA
TCAAGCTTTTGCTATTTATGGAGGTGTTAGTGGTCTGTATGACTTTGGGCCAGTTGGCTGTGCT
TTGAAGAACAATATTATTCAGACCTGGAGGCAGCACTTTATCCAAGAGGAACAGATCCTGGAGA
TCGATTGCACCATGCTCACCCCTGAGCCAGTTTTAAAGACCTCTGGCCATGTAGACAAATTTGC
TGACTTCATGGTGAAAGACGTAAAAAATGGAGAATGTTTTCGTGCTGACCATCTATTAAAAGCT
CATTTACAGAAATTGATGTCTGATAAGAAGTGTTCTGTCGAAAAGAAATCAGAAATGGAAAGTG
TTTTGGCCCAGCTTGATAACTATGGACAGCAAGAACTTGCGGATCTTTTTGTGAACTATAATGT
AAAATCTCCCATTACTGGAAATGATCTATCCCCTCCAGTGTCTTTTAACTTAATGTTCAAGACT
TTCATTGGGCCTGGAGGAAACATGCCTGGGTACTTGAGACCAGAAACTGCACAGGGGATTTTCT
TGAATTTCAAACGACTTTTGGAGTTCAACCAAGGAAAGTTGCCTTTTGCTGCTGCCCAGATTGG
AAATTCTTTTAGAAATGAGATCTCCCCTCGATCTGGACTGATCAGAGTCAGAGAATTCACAATG
GCAGAAATTGAGCACTTTGTAGATCCCAGTGAGAAAGACCACCCCAAGTTCCAGAATGTGGCAG
ACCTTCACCTTTATTTGTATTCAGCAAAAGCCCAGGTCAGCGGACAGTCCGCTCGGAAAATGCG
CCTGGGAGATGCTGTTGAACAGGGTGTGATTAATAACACAGTATTAGGCTATTTCATTGGCCGC
ATCTACCTCTACCTCACGAAGGTTGGAATATCTCCAGATAAACTCCGCTTCCGGCAGCACATGG
AGAATGAGATGGCCCATTATGCCTGTGACTGTTGGGATGCAGAATCCAAAACATCCTACGGTTG
GATTGAGATTGTTGGATGTGCTGATCGTTCCTGTTATGACCTCTCCTGTCATGCACGAGCCACC
AAAGTCCCACTTGTAGCTGAGAAACCTCTGAAAGAACCCAAAACAGTCAATGTTGTTCAGTTTG
AACCCAGTAAGGGAGCAATTGGTAAGGCATATAAGAAGGATGCAAAACTGGTGATGGAGTATCT
TGCCATTTGTGATGAGTGCTACATTACAGAAATGGAGATGCTGCTGAATGAGAAAGGGGAATTC
ACAATTGAAACTGAAGGGAAAACATTTCAGTTAACAAAAGACATGATCAATGTGAAGAGATTCC
AGAAAACACTATATGTGGAAGAAGTTGTTCCGAATGTAATTGAACCTTCCTTCGGCCTGGGTAG
GATCATGTATACGGTATTTGAACATACATTCCATGTACGAGAAGGAGATGAACAGAGAACATTC
TTCAGTTTCCCTGCTGTAGTTGCTCCATTCAAATGTTCCGTCCTCCCACTGAGCCAAAACCAGG
AGTTCATGCCATTTGTCAAGGAATTATCGGAAGCCCTGACCAGGCATGGAGTATCTCACAAAGT
AGACGATTCCTCTGGGTCAATCGGAAGGCGCTATGCCAGGACTGATGAGATTGGCGTGGCTTTT
GGTGTCACCATTGACTTTGACACAGTGAACAAGACCCCCCACACTGCAACTCTGAGGGACCGTG
ACTCAATGCGGCAGATAAGAGCAGAGATCTCTGAGCTGCCCAGCATAGTCCAAGACCTAGCCAA
TGGCAACATCACATGGGCTGATGTGGAGGCCAGGTATCCTCTGTTTGAAGGGCAAGAGACTGGT
AAAAAAGAGACAATCGAGGAATGAGGACAATTTTGACAACTTTTGACCACTTGCGCTAATAAAA
AAAAAAAAAAACTACTCTTATGTCCACTTTACAAAAGAAAACAGCATTGTGATTACTCCCAGGG
ACCGTATTTTATCTTCAGTGGCTGCCTGATTTTACCCCCACAATTAAAGTTGAAGGAATCCTGA
ACAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001303701	(Get FASTA)	NCBI Sequence Viewer
	NP_002038	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA57001	(Get FASTA)	NCBI Sequence Viewer
	AAA86443	(Get FASTA)	NCBI Sequence Viewer
	AAC71652	(Get FASTA)	NCBI Sequence Viewer
	AAH07722	(Get FASTA)	NCBI Sequence Viewer
	AAH07755	(Get FASTA)	NCBI Sequence Viewer
	AAS00367	(Get FASTA)	NCBI Sequence Viewer
	BAA06338	(Get FASTA)	NCBI Sequence Viewer
	BAG51964	(Get FASTA)	NCBI Sequence Viewer
	BAG58412	(Get FASTA)	NCBI Sequence Viewer
	EAL24449	(Get FASTA)	NCBI Sequence Viewer
	EAW93960	(Get FASTA)	NCBI Sequence Viewer
	EAW93961	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000373918
	ENSP00000373918.3
	ENSP00000392677.2
	ENSP00000415447.2
	ENSP00000501636.1
	ENSP00000501655.1
	ENSP00000501884.1
	ENSP00000501980.1
	ENSP00000501986.1
	ENSP00000502033.1
	ENSP00000502174
	ENSP00000502174.1
	ENSP00000502296.1
	ENSP00000502373.1
	ENSP00000502408.1
	ENSP00000502451.1
	ENSP00000502464.1
	ENSP00000502513.1
	ENSP00000502571.1
	ENSP00000502681.1
	ENSP00000502743.1
	ENSP00000502799.1
	ENSP00000502814.1
GenBank Protein	P41250	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_002038 ⟸ NM_002047
- Peptide Label:	isoform 1 precursor
- UniProtKB:	B4DIA0 (UniProtKB/Swiss-Prot), B3KQA2 (UniProtKB/Swiss-Prot), A0A090N8G0 (UniProtKB/Swiss-Prot), Q969Y1 (UniProtKB/Swiss-Prot), P41250 (UniProtKB/Swiss-Prot), A0A6Q8PGZ8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPSPRPVLLRGARAALLLLLPPRLLARPSLLLRRSLSAASCPPISLPAAASRSSMDGAGAEEVL APLRLAVRQQGDLVRKLKEDKAPQVDVDKAVAELKARKRVLEAKELALQPKDDIVDRAKMEDTL KRRFFYDQAFAIYGGVSGLYDFGPVGCALKNNIIQTWRQHFIQEEQILEIDCTMLTPEPVLKTS GHVDKFADFMVKDVKNGECFRADHLLKAHLQKLMSDKKCSVEKKSEMESVLAQLDNYGQQELAD LFVNYNVKSPITGNDLSPPVSFNLMFKTFIGPGGNMPGYLRPETAQGIFLNFKRLLEFNQGKLP FAAAQIGNSFRNEISPRSGLIRVREFTMAEIEHFVDPSEKDHPKFQNVADLHLYLYSAKAQVSG QSARKMRLGDAVEQGVINNTVLGYFIGRIYLYLTKVGISPDKLRFRQHMENEMAHYACDCWDAE SKTSYGWIEIVGCADRSCYDLSCHARATKVPLVAEKPLKEPKTVNVVQFEPSKGAIGKAYKKDA KLVMEYLAICDECYITEMEMLLNEKGEFTIETEGKTFQLTKDMINVKRFQKTLYVEEVVPNVIE PSFGLGRIMYTVFEHTFHVREGDEQRTFFSFPAVVAPFKCSVLPLSQNQEFMPFVKELSEALTR HGVSHKVDDSSGSIGRRYARTDEIGVAFGVTIDFDTVNKTPHTATLRDRDSMRQIRAEISELPS IVQDLANGNITWADVEARYPLFEGQETGKKETIEE hide sequence

RefSeq Acc Id:	NP_001303701 ⟸ NM_001316772
- Peptide Label:	isoform 2
- UniProtKB:	A0A6Q8PGA8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDGAGAEEVLAPLRLAVRQQGDLVRKLKEDKAPQVDVDKAVAELKARKRVLEAKELALQPKDDI VDRAKMEDTLKRRFFYDQAFAIYGGVSGLYDFGPVGCALKNNIIQTWRQHFIQEEQILEIDCTM LTPEPVLKTSGHVDKFADFMVKDVKNGECFRADHLLKAHLQKLMSDKKCSVEKKSEMESVLAQL DNYGQQELADLFVNYNVKSPITGNDLSPPVSFNLMFKTFIGPGGNMPGYLRPETAQGIFLNFKR LLEFNQGKLPFAAAQIGNSFRNEISPRSGLIRVREFTMAEIEHFVDPSEKDHPKFQNVADLHLY LYSAKAQVSGQSARKMRLGDAVEQGVINNTVLGYFIGRIYLYLTKVGISPDKLRFRQHMENEMA HYACDCWDAESKTSYGWIEIVGCADRSCYDLSCHARATKVPLVAEKPLKEPKTVNVVQFEPSKG AIGKAYKKDAKLVMEYLAICDECYITEMEMLLNEKGEFTIETEGKTFQLTKDMINVKRFQKTLY VEEVVPNVIEPSFGLGRIMYTVFEHTFHVREGDEQRTFFSFPAVVAPFKCSVLPLSQNQEFMPF VKELSEALTRHGVSHKVDDSSGSIGRRYARTDEIGVAFGVTIDFDTVNKTPHTATLRDRDSMRQ IRAEISELPSIVQDLANGNITWADVEARYPLFEGQETGKKETIEE hide sequence

RefSeq Acc Id:

ENSP00000373918 ⟸ ENST00000389266

RefSeq Acc Id:

ENSP00000392677 ⟸ ENST00000454308

RefSeq Acc Id:

ENSP00000485931 ⟸ ENST00000627489

RefSeq Acc Id:

ENSP00000415447 ⟸ ENST00000444666

RefSeq Acc Id:

ENSP00000502814 ⟸ ENST00000674807

RefSeq Acc Id:

ENSP00000502451 ⟸ ENST00000674851

RefSeq Acc Id:

ENSP00000502799 ⟸ ENST00000674815

RefSeq Acc Id:

ENSP00000502464 ⟸ ENST00000674737

RefSeq Acc Id:

ENSP00000502408 ⟸ ENST00000674616

RefSeq Acc Id:

ENSP00000501636 ⟸ ENST00000674643

RefSeq Acc Id:

ENSP00000502033 ⟸ ENST00000675859

RefSeq Acc Id:

ENSP00000502743 ⟸ ENST00000675810

RefSeq Acc Id:

ENSP00000502174 ⟸ ENST00000675693

RefSeq Acc Id:

ENSP00000502513 ⟸ ENST00000675651

RefSeq Acc Id:

ENSP00000501655 ⟸ ENST00000675529

RefSeq Acc Id:

ENSP00000502296 ⟸ ENST00000675051

RefSeq Acc Id:

ENSP00000501980 ⟸ ENST00000676259

RefSeq Acc Id:

ENSP00000502373 ⟸ ENST00000676210

RefSeq Acc Id:

ENSP00000501986 ⟸ ENST00000676164

RefSeq Acc Id:

ENSP00000502571 ⟸ ENST00000676140

RefSeq Acc Id:

ENSP00000501884 ⟸ ENST00000676088

RefSeq Acc Id:

ENSP00000502681 ⟸ ENST00000676403

Protein Domains

Aminoacyl-transfer RNA synthetases class-II family WHEP-TRS

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P41250-F1-model_v2	AlphaFold	P41250	1-739	view protein structure

Promoters

RGD ID:

7210289

Promoter ID:

EPDNEW_H10890

Type:

initiation region

Name:

GARS_2

Description:

glycyl-tRNA synthetase

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H10891

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	30,594,460 - 30,594,520	EPDNEW

RGD ID:

7210291

Promoter ID:

EPDNEW_H10891

Type:

initiation region

Name:

GARS_1

Description:

glycyl-tRNA synthetase

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H10890

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	30,594,884 - 30,594,944	EPDNEW

RGD ID:

6805688

Promoter ID:

HG_KWN:56825

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000327735, OTTHUMT00000327736, OTTHUMT00000327737

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	30,600,111 - 30,601,042 (+)	MPROMDB

RGD ID:

6852868

Promoter ID:

EP74251

Type:

initiation region

Name:

HS_GARS_1

Description:

Glycyl-tRNA synthetase.

SO ACC ID:

SO:0000170

Source:

EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

alternative promoter #1 of 2; 5' exon 1; site 1.; see alsoEP74252

Experiment Methods:

Mammalian gene collection (MGC) full-length cDNA cloning

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	30,600,998 - 30,601,058	EPD

RGD ID:

6852870

Promoter ID:

EP74252

Type:

initiation region

Name:

HS_GARS_2

Description:

Glycyl-tRNA synthetase.

SO ACC ID:

SO:0000170

Source:

EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

alternative promoter #2 of 2; 5' exon 1; site 2; major promoter.; see alsoEP74251

Experiment Methods:

Mammalian gene collection (MGC) full-length cDNA cloning

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	30,601,056 - 30,601,116	EPD

RGD ID:

6805690

Promoter ID:

HG_KWN:56827

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

OTTHUMT00000327739

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	30,619,676 - 30,620,362 (+)	MPROMDB

RGD ID:

6805691

Promoter ID:

HG_KWN:56829

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

OTTHUMT00000327741

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	30,633,511 - 30,634,011 (+)	MPROMDB

RGD ID:

6805693

Promoter ID:

HG_KWN:56830

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

OTTHUMT00000327742, OTTHUMT00000327743

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	30,637,341 - 30,638,262 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:4162	AgrOrtholog
COSMIC	GARS1	COSMIC
Ensembl Genes	ENSG00000106105	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000389266	ENTREZGENE
	ENST00000389266.8	UniProtKB/Swiss-Prot
	ENST00000444666.6	UniProtKB/TrEMBL
	ENST00000454308.6	UniProtKB/TrEMBL
	ENST00000674616.1	UniProtKB/TrEMBL
	ENST00000674643.1	UniProtKB/TrEMBL
	ENST00000674737.1	UniProtKB/TrEMBL
	ENST00000674807.1	UniProtKB/TrEMBL
	ENST00000674815.1	UniProtKB/TrEMBL
	ENST00000674851.1	UniProtKB/TrEMBL
	ENST00000675051.1	UniProtKB/TrEMBL
	ENST00000675529.1	UniProtKB/TrEMBL
	ENST00000675651.1	UniProtKB/TrEMBL
	ENST00000675693	ENTREZGENE
	ENST00000675693.1	UniProtKB/TrEMBL
	ENST00000675810.1	UniProtKB/TrEMBL
	ENST00000675859.1	UniProtKB/TrEMBL
	ENST00000676088.1	UniProtKB/TrEMBL
	ENST00000676140.1	UniProtKB/TrEMBL
	ENST00000676164.1	UniProtKB/TrEMBL
	ENST00000676210.1	UniProtKB/TrEMBL
	ENST00000676259.1	UniProtKB/TrEMBL
	ENST00000676403.1	UniProtKB/TrEMBL
Gene3D-CATH	3.30.40.230	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.30.720.200	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.40.50.800	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	S15/NS1, RNA-binding	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000106105	GTEx
HGNC ID	HGNC:4162	ENTREZGENE
Human Proteome Map	GARS1	Human Proteome Map
InterPro	aa-tRNA-synt_IIb	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	aa-tRNA-synth_II	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	aa-tRNA-synth_II/BPL/LPL	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Anticodon-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Anticodon-bd_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Gly-tRNA_synthase/POLG2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	GlyRS-like_core	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	S15_NS1_RNA-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	tRNA-synt_gly	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WHEP-TRS_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:2617	UniProtKB/Swiss-Prot
NCBI Gene	2617	ENTREZGENE
OMIM	600287	OMIM
PANTHER	GLYCINE--TRNA LIGASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PROTEIN GVQW1-RELATED	UniProtKB/TrEMBL
	PTHR10745	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	HGTP_anticodon	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	tRNA-synt_2b	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WHEP-TRS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA28575	PharmGKB
PRINTS	TRNASYNTHGLY	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	AA_TRNA_LIGASE_II	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WHEP_TRS_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WHEP_TRS_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	WHEP-TRS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	Class II aaRS ABD-related	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF47060	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF55681	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A090N8G0	ENTREZGENE
	A0A6Q8PF45_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PFN0_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PFU7_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PFV5_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PFZ6_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PGA8	ENTREZGENE, UniProtKB/TrEMBL
	A0A6Q8PGI6_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PGN7_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PGT3_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PGW4_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PGZ8	ENTREZGENE, UniProtKB/TrEMBL
	A0A6Q8PGZ9_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PH49_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PHH9_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PHI7_HUMAN	UniProtKB/TrEMBL
	B3KQA2	ENTREZGENE
	B4DIA0	ENTREZGENE
	F8WCK4_HUMAN	UniProtKB/TrEMBL
	GARS_HUMAN	UniProtKB/Swiss-Prot
	H7C443_HUMAN	UniProtKB/TrEMBL
	P41250	ENTREZGENE
	Q969Y1	ENTREZGENE
UniProt Secondary	A0A090N8G0	UniProtKB/Swiss-Prot
	B3KQA2	UniProtKB/Swiss-Prot
	B4DIA0	UniProtKB/Swiss-Prot
	Q969Y1	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-07-23	GARS1	glycyl-tRNA synthetase 1	GARS	glycyl-tRNA synthetase	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

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Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

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