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Gene: AARS1 (alanyl-tRNA synthetase 1) Homo sapiens

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Symbol:

AARS1

Name:

alanyl-tRNA synthetase 1

RGD ID:

1312500

HGNC Page

HGNC:20

Description:

Enables alanine-tRNA ligase activity; aminoacyl-tRNA editing activity; and peptide lactyltransferase (ATP-dependent) activity. Involved in alanyl-tRNA aminoacylation; negative regulation of signal transduction by p53 class mediator; and positive regulation of hippo signaling. Located in cytosol. Is active in cytoplasm and nucleus. Implicated in Charcot-Marie-Tooth disease axonal type 2N; developmental and epileptic encephalopathy 29; leukodystrophy; and nonphotosensitive trichothiodystrophy 8.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

AARS; alanine tRNA ligase 1, cytoplasmic; alanine--tRNA ligase; alanine--tRNA ligase, cytoplasmic; alanyl-tRNA synthetase; alanyl-tRNA synthetase, cytoplasmic; alaRS; CMT2N; DEE29; EIEE29; HDLS2; renal carcinoma antigen NY-REN-42; TTD8

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):	Aars1 (alanyl-tRNA synthetase 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Aars1 (alanyl-tRNA synthetase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Aars1 (alanyl-tRNA synthetase 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	AARS1 (alanyl-tRNA synthetase 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	AARS1 (alanyl-tRNA synthetase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Aars1 (alanyl-tRNA synthetase 1)	NCBI	Ortholog
Sus scrofa (pig):	AARS1 (alanyl-tRNA synthetase 1)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	AARS1 (alanyl-tRNA synthetase 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Aars1 (alanyl-tRNA synthetase 1)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Aars2 (alanyl-tRNA synthetase 2, mitochondrial)	HGNC	OrthoMCL
Rattus norvegicus (Norway rat):	Ubn2 (ubinuclein 2)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Aars1 (alanyl-tRNA synthetase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Aars1 (alanyl-tRNA synthetase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	aars (alanyl-tRNA synthetase)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	ALA1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	AlaRS	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	aars-2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	aars1.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	aars1	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER)

Related Pseudogenes:

AARS1P1

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	16	70,252,298 - 70,289,506 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	70,251,983 - 70,289,707 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	70,286,201 - 70,323,409 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	68,843,798 - 68,880,913 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	68,843,797 - 68,880,913	NCBI
Celera	16	55,204,771 - 55,241,876 (+)	NCBI		Celera
Cytogenetic Map	16	q22.1	NCBI
HuRef	16	56,119,458 - 56,156,083 (-)	NCBI		HuRef
CHM1_1	16	71,693,759 - 71,730,869 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	76,063,291 - 76,100,495 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (IAGP)

autosomal dominant dyskeratosis congenita 6 (IAGP)

Charcot-Marie-Tooth disease (IAGP)

Charcot-Marie-Tooth disease axonal type 2N (EXP,IAGP)

Charcot-Marie-Tooth disease type 1 (IAGP)

Charcot-Marie-Tooth disease type 2 (IAGP)

Chromosome 16q12 Duplication Syndrome (IAGP)

clubfoot (IAGP)

developmental and epileptic encephalopathy 29 (IAGP)

genetic disease (IAGP)

Hereditary Diffuse Leukoencephalopathy with Spheroids 2 (IAGP)

neuropathy (IAGP)

nonphotosensitive trichothiodystrophy 8 (IAGP)

peripheral nervous system disease (IAGP)

spinal muscular atrophy (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane (ISO)

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

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

17alpha-ethynylestradiol (ISO)

17beta-estradiol (ISO)

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

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

2,6-dimethoxyphenol (EXP)

2-amino-14,16-dimethyloctadecan-3-ol (EXP)

2-bromohexadecanoic acid (EXP)

2-butoxyethanol (ISO)

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

4,4'-sulfonyldiphenol (ISO)

4-phenylbutyric acid (EXP)

5-aza-2'-deoxycytidine (EXP)

5-fluorouracil (EXP)

aflatoxin B1 (ISO)

all-trans-retinoic acid (EXP)

Aroclor 1254 (ISO)

arsenite(3-) (EXP)

arsenous acid (EXP)

azoxystrobin (EXP)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

bisphenol AF (EXP)

Bisphenol B (EXP)

bisphenol F (EXP)

Brodifacoum (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

caffeine (EXP)

carbamazepine (EXP)

carbon nanotube (ISO)

chloroacetaldehyde (EXP)

chloropicrin (EXP)

chlorpyrifos (ISO)

cidofovir anhydrous (EXP)

cisplatin (EXP)

clodronic acid (EXP)

clozapine (EXP)

cobalt dichloride (EXP,ISO)

copper atom (EXP)

copper(0) (EXP)

coumestrol (EXP)

curcumin (EXP)

cyclosporin A (EXP,ISO)

dexamethasone (ISO)

diarsenic trioxide (EXP)

dibutyl phthalate (ISO)

diclofenac (ISO)

dioxygen (EXP)

disulfiram (EXP)

diuron (EXP)

dorsomorphin (EXP)

endosulfan (ISO)

entinostat (EXP)

enzyme inhibitor (EXP)

ethanol (ISO)

fenofibrate (ISO)

fenthion (ISO)

flutamide (ISO)

folic acid (ISO)

FR900359 (EXP)

genistein (EXP)

gentamycin (ISO)

graphite (ISO)

ivermectin (EXP)

L-ascorbic acid (EXP)

lead diacetate (ISO)

lipopolysaccharide (EXP)

metformin (ISO)

methidathion (ISO)

methylparaben (EXP)

N(4)-hydroxycytidine (ISO)

N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine (EXP)

N-ethyl-N-nitrosourea (ISO)

N-methyl-4-phenylpyridinium (EXP)

nickel atom (EXP)

nitrates (ISO)

ochratoxin A (EXP)

paracetamol (EXP,ISO)

paraquat (ISO)

perfluorononanoic acid (EXP)

perfluorooctane-1-sulfonic acid (EXP,ISO)

perfluorooctanoic acid (EXP)

phenobarbital (EXP)

picoxystrobin (EXP)

pinostrobin (EXP)

pirinixic acid (ISO)

piroxicam (EXP)

prostaglandin A1 (ISO)

rotenone (EXP)

SB 431542 (EXP)

sodium arsenite (EXP)

sodium chloride (EXP)

sunitinib (EXP)

T-2 toxin (EXP,ISO)

thapsigargin (ISO)

thifluzamide (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

tolcapone (ISO)

trichloroethene (ISO)

trimellitic anhydride (ISO)

trovafloxacin (ISO)

tungsten (ISO)

tunicamycin (EXP)

valproic acid (EXP)

vinclozolin (ISO)

zearalenone (ISO)

zinc atom (EXP)

zinc(0) (EXP)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

alanyl-tRNA aminoacylation (IBA,IDA,IEA,IMP,ISO,TAS)

aminoacyl-tRNA metabolism involved in translational fidelity (IEA)

cerebellar Purkinje cell layer development (IEA)

negative regulation of neuron apoptotic process (IEA)

negative regulation of signal transduction by p53 class mediator (IDA)

neuromuscular process (IEA)

neuromuscular process controlling balance (IEA)

neuron apoptotic process (IEA)

positive regulation of hippo signaling (IDA)

regulation of cytoplasmic translational fidelity (IEA)

translation (IEA)

tRNA aminoacylation (IEA)

tRNA aminoacylation for protein translation (TAS)

tRNA modification (IEA,ISO,ISS)

tRNA processing (TAS)

Cellular Component

cytoplasm (IDA,IEA,TAS)

cytosol (IDA,TAS)

extracellular exosome (HDA)

membrane (HDA)

mitochondrion (IBA)

nucleus (IDA,IEA)

Molecular Function

alanine-tRNA ligase activity (IBA,IDA,IEA,ISO,TAS)

amino acid binding (IEA,ISO)

aminoacyl-tRNA editing activity (IBA,IDA,IEA)

aminoacyl-tRNA ligase activity (IEA)

ATP binding (IEA,ISO)

ligase activity (IEA)

metal ion binding (IEA)

nucleic acid binding (IEA)

nucleotide binding (IEA)

peptide lactyltransferase (ATP-dependent) activity (IDA,IEA)

protein binding (ISO)

RNA binding (IEA)

Ser-tRNA(Ala) hydrolase activity (IEA,ISS)

tRNA binding (IEA,ISO,TAS)

zinc ion binding (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

alanine metabolic pathway (EXP)

lactic acidosis pathway (EXP)

primary hyperoxaluria type 1 pathway (EXP)

pyruvate carboxylase deficiency pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal corpus callosum morphology (IAGP)

Abnormal involuntary eye movements (IAGP)

Abnormal myelination (IAGP)

Abnormal pyramidal sign (IAGP)

Abnormality of coordination (IAGP)

Abnormality of prenatal development or birth (IAGP)

Abnormality of vision (IAGP)

Absence of subcutaneous fat (IAGP)

Absent Achilles reflex (IAGP)

Adult onset (IAGP)

Alopecia of scalp (IAGP)

Anemia (IAGP)

Ankle clonus (IAGP)

Aplasia/Hypoplasia of the nails (IAGP)

Areflexia (IAGP)

Astigmatism (IAGP)

Ataxia (IAGP)

Attention deficit hyperactivity disorder (IAGP)

Atypical behavior (IAGP)

Autism (IAGP)

Autosomal dominant inheritance (IAGP)

Autosomal recessive inheritance (IAGP)

Axial hypotonia (IAGP)

Babinski sign (IAGP)

Bilateral microphthalmos (IAGP)

Bilateral sensorineural hearing impairment (IAGP)

Bird-like facies (IAGP)

Blepharospasm (IAGP)

Brain atrophy (IAGP)

Brittle hair (IAGP)

Bronchoconstriction (IAGP)

Cardiomyopathy (IAGP)

Carious teeth (IAGP)

Cerebral atrophy (IAGP)

Cerebral cortical atrophy (IAGP)

Cerebral dysmyelination (IAGP)

Cheyne-Stokes respiration (IAGP)

Chorea (IAGP)

Clubbing (IAGP)

CNS hypomyelination (IAGP)

Coarse facial features (IAGP)

Concave nail (IAGP)

Congenital exfoliative erythroderma (IAGP)

Congenital onset (IAGP)

Conjunctivitis (IAGP)

Craniofacial dystonia (IAGP)

Craniosynostosis (IAGP)

Cryptorchidism (IAGP)

Cutaneous photosensitivity (IAGP)

Cutis laxa (IAGP)

Decreased fetal movement (IAGP)

Decreased motor nerve conduction velocity (IAGP)

Defective DNA repair after ultraviolet radiation damage (IAGP)

Delayed CNS myelination (IAGP)

Delayed skeletal maturation (IAGP)

Delayed speech and language development (IAGP)

Dementia (IAGP)

Developmental cataract (IAGP)

Developmental regression (IAGP)

Diffuse cerebellar atrophy (IAGP)

Distal lower limb amyotrophy (IAGP)

Distal muscle weakness (IAGP)

Distal sensory impairment (IAGP)

Downslanted palpebral fissures (IAGP)

Dry skin (IAGP)

Dysarthria (IAGP)

Dyskinesia (IAGP)

Dysphonia (IAGP)

Dystonia (IAGP)

Dystrophic fingernails (IAGP)

Ectropion (IAGP)

Eczematoid dermatitis (IAGP)

EEG with multifocal slow activity (IAGP)

Enamel hypoplasia (IAGP)

Encephalopathy (IAGP)

Epicanthus (IAGP)

Epileptic encephalopathy (IAGP)

Esodeviation (IAGP)

Esotropia (IAGP)

Failure to thrive (IAGP)

Feeding difficulties (IAGP)

Foot dorsiflexor weakness (IAGP)

Fragile nails (IAGP)

Gait ataxia (IAGP)

Gait disturbance (IAGP)

Gastroesophageal reflux (IAGP)

Generalized hyperreflexia (IAGP)

Generalized hypotonia (IAGP)

Generalized-onset seizure (IAGP)

Global developmental delay (IAGP)

Gonadal dysgenesis (IAGP)

Grasp reflex (IAGP)

Hammertoe (IAGP)

Head titubation (IAGP)

Hemianopia (IAGP)

High forehead (IAGP)

High, narrow palate (IAGP)

Hip dislocation (IAGP)

Hypertelorism (IAGP)

Hypertonia (IAGP)

Hypodontia (IAGP)

Hypoplasia of mandible relative to maxilla (IAGP)

Hyporeflexia (IAGP)

Hypotelorism (IAGP)

Hypsarrhythmia (IAGP)

Ichthyosis (IAGP)

Immunodeficiency (IAGP)

Impulsivity (IAGP)

Increased bone mineral density (IAGP)

Increased mean corpuscular hemoglobin concentration (IAGP)

Infantile onset (IAGP)

Infra-orbital crease (IAGP)

Intellectual disability (IAGP)

Intention tremor (IAGP)

Intrauterine growth retardation (IAGP)

Involuntary movements (IAGP)

Jerky ocular pursuit movements (IAGP)

Joint dislocation (IAGP)

Juvenile onset (IAGP)

Keratoconjunctivitis sicca (IAGP)

Leukoencephalopathy (IAGP)

Limb dystonia (IAGP)

Limb hypertonia (IAGP)

Long philtrum (IAGP)

Low-set nipples (IAGP)

Lower limb muscle weakness (IAGP)

Macular degeneration (IAGP)

Mental deterioration (IAGP)

Microcephaly (IAGP)

Microcornea (IAGP)

Middle age onset (IAGP)

Multiple joint contractures (IAGP)

Myoclonic seizure (IAGP)

Myoclonus (IAGP)

Myopia (IAGP)

Neutropenia (IAGP)

Numerous pigmented freckles (IAGP)

Nystagmus (IAGP)

Optic atrophy (IAGP)

Orofacial dyskinesia (IAGP)

Osteopenia (IAGP)

Panhypogammaglobulinemia (IAGP)

Paraplegia/paraparesis (IAGP)

Partial agenesis of the corpus callosum (IAGP)

Peripheral axonal neuropathy (IAGP)

Peripheral neuropathy (IAGP)

Periventricular leukomalacia (IAGP)

Personality changes (IAGP)

Pes cavus (IAGP)

Photophobia (IAGP)

Poor head control (IAGP)

Prematurely aged appearance (IAGP)

Prominent nose (IAGP)

Protruding ear (IAGP)

Ptosis (IAGP)

Recurrent bronchopulmonary infections (IAGP)

Recurrent infections (IAGP)

Reduced social responsiveness (IAGP)

Reduced tendon reflexes (IAGP)

Retinal degeneration (IAGP)

Retrognathia (IAGP)

Ridged nail (IAGP)

Rigidity (IAGP)

Rocker bottom foot (IAGP)

Seizure (IAGP)

Sensorineural hearing impairment (IAGP)

Sensory ataxia (IAGP)

Short stature (IAGP)

Skeletal muscle atrophy (IAGP)

Sparse eyebrow (IAGP)

Sparse hair (IAGP)

Sparse scalp hair (IAGP)

Spastic diplegia (IAGP)

Spasticity (IAGP)

Split nail (IAGP)

Squamous cell carcinoma (IAGP)

Status epilepticus (IAGP)

Strabismus (IAGP)

Talipes equinovarus (IAGP)

Thin upper lip vermilion (IAGP)

Thoracic kyphosis (IAGP)

Tiger tail banding (IAGP)

Tremor (IAGP)

Trichorrhexis nodosa (IAGP)

Umbilical hernia (IAGP)

Unsteady gait (IAGP)

Vegetative state (IAGP)

Ventricular septal defect (IAGP)

Ventriculomegaly (IAGP)

Woolly hair (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:2915692	PMID:7654687	PMID:7761427	PMID:8076819	PMID:8125298	PMID:10508479	PMID:11532948	PMID:11829477	PMID:12477932	PMID:15489334	PMID:16263121	PMID:16751776
PMID:17081983	PMID:19738201	PMID:19946888	PMID:20045102	PMID:20301462	PMID:20301532	PMID:20458337	PMID:21237226	PMID:21319273	PMID:21549344	PMID:21873635	PMID:22009580
PMID:22573628	PMID:22586326	PMID:22623428	PMID:22658674	PMID:22863883	PMID:22939629	PMID:25422440	PMID:25659154	PMID:25798074	PMID:25817015	PMID:25904691	PMID:25921289
PMID:26032230	PMID:26344197	PMID:26496610	PMID:26618866	PMID:26831064	PMID:27173435	PMID:27342126	PMID:27622773	PMID:27911835	PMID:28302793	PMID:28493438	PMID:28515276
PMID:28581483	PMID:28675297	PMID:29128334	PMID:29467282	PMID:29507755	PMID:29509190	PMID:29564676	PMID:30021884	PMID:30124830	PMID:30575818	PMID:30711629	PMID:30737378
PMID:30809309	PMID:30884312	PMID:30948266	PMID:30952159	PMID:31046837	PMID:31073040	PMID:31091453	PMID:31478661	PMID:31586073	PMID:31620119	PMID:31980649	PMID:32129710
PMID:32314272	PMID:32416067	PMID:32513696	PMID:32687490	PMID:32694731	PMID:32707033	PMID:32786267	PMID:32807901	PMID:32812023	PMID:32838362	PMID:33022573	PMID:33144569
PMID:33226137	PMID:33545068	PMID:33658012	PMID:33753480	PMID:33909043	PMID:33916271	PMID:34189442	PMID:34316702	PMID:34349018	PMID:34373451	PMID:34428256	PMID:34672954
PMID:34709727	PMID:34728620	PMID:35016035	PMID:35032548	PMID:35256949	PMID:35391932	PMID:35446349	PMID:35509820	PMID:35563538	PMID:35687106	PMID:35831314	PMID:35914814
PMID:35944360	PMID:35971119	PMID:36055981	PMID:36114006	PMID:36168627	PMID:36215168	PMID:36225252	PMID:36517590	PMID:36543142	PMID:36604567	PMID:36610398	PMID:36762613
PMID:36774506	PMID:36898370	PMID:36931259	PMID:37010095	PMID:37120454	PMID:37167062	PMID:37223481	PMID:37433992	PMID:37506885	PMID:37667382	PMID:37774976	PMID:37827155
PMID:38334954	PMID:38512451	PMID:38653238	PMID:38777146	PMID:39147351	PMID:39322678

Genomics

Comparative Map Data

AARS1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	70,252,298 - 70,289,506 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	70,251,983 - 70,289,707 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	70,286,201 - 70,323,409 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	68,843,798 - 68,880,913 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	68,843,797 - 68,880,913	NCBI
Celera	16	55,204,771 - 55,241,876 (+)	NCBI		Celera
Cytogenetic Map	16	q22.1	NCBI
HuRef	16	56,119,458 - 56,156,083 (-)	NCBI		HuRef
CHM1_1	16	71,693,759 - 71,730,869 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	76,063,291 - 76,100,495 (-)	NCBI		T2T-CHM13v2.0

Aars1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	111,759,781 - 111,784,237 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	111,759,776 - 111,784,296 (+)	Ensembl		GRCm39 Ensembl
GRCm38	8	111,027,778 - 111,055,569 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	111,033,144 - 111,057,664 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	113,557,867 - 113,580,770 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	113,920,642 - 113,943,545 (+)	NCBI		MGSCv36	mm8
Celera	8	115,257,943 - 115,280,837 (+)	NCBI		Celera
Cytogenetic Map	8	E1	NCBI
cM Map	8	57.9	NCBI

Aars1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	19	55,906,694 - 55,930,499 (+)	NCBI		GRCr8
mRatBN7.2	19	38,999,130 - 39,021,152 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	19	38,999,163 - 39,021,147 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	19	45,803,476 - 45,825,481 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	19	46,456,819 - 46,478,824 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	19	48,767,870 - 48,789,877 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	19	43,193,264 - 43,215,281 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	19	43,193,257 - 43,215,281 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	19	54,018,025 - 54,040,573 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	19	40,952,408 - 40,974,425 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	19	40,957,348 - 40,979,299 (+)	NCBI
Celera	19	38,390,301 - 38,412,318 (+)	NCBI		Celera
Cytogenetic Map	19	q12	NCBI

Aars1
(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_004955484	3,089,235 - 3,115,230 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955484	3,090,678 - 3,115,224 (-)	NCBI	ChiLan1.0	ChiLan1.0

AARS1
(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	18	83,876,270 - 83,912,138 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	16	89,807,117 - 89,843,061 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	16	54,727,601 - 54,763,458 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	16	70,086,735 - 70,121,902 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	70,086,735 - 70,121,902 (-)	Ensembl	panpan1.1		panPan2

AARS1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	76,288,780 - 76,343,262 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	76,288,782 - 76,343,207 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	76,250,625 - 76,276,397 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	76,725,260 - 76,750,984 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	76,725,265 - 76,748,174 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	76,547,302 - 76,573,204 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	76,370,741 - 76,396,505 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	76,862,531 - 76,888,314 (-)	NCBI		UU_Cfam_GSD_1.0

Aars1
(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_024409349	36,294,883 - 36,320,498 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936475	23,268,491 - 23,294,496 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936475	23,268,613 - 23,294,236 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

AARS1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	13,298,330 - 13,321,383 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	13,298,336 - 13,321,423 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	13,363,115 - 13,385,168 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

AARS1
(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	5	53,399,717 - 53,433,472 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	5	53,395,638 - 53,433,461 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666047	16,186,832 - 16,220,663 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Aars1
(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_004624746	12,540,633 - 12,567,376 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624746	12,540,969 - 12,566,989 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in AARS1
1384 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001605.3(AARS1):c.2218G>C (p.Val740Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001035773]\|not provided [RCV000254947]	Chr16:70255796 [GRCh38] Chr16:70289699 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1074A>T (p.Gly358=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000550732]	Chr16:70267807 [GRCh38] Chr16:70301710 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1839C>T (p.Phe613=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001501283]\|Inborn genetic diseases [RCV002461357]\|not provided [RCV000543738]	Chr16:70259133 [GRCh38] Chr16:70293036 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.391G>A (p.Glu131Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000552823]\|Inborn genetic diseases [RCV002461361]	Chr16:70276574 [GRCh38] Chr16:70310477 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1078G>C (p.Ala360Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000527056]	Chr16:70267803 [GRCh38] Chr16:70301706 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2845C>G (p.Gln949Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000527618]	Chr16:70252783 [GRCh38] Chr16:70286686 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly)	single nucleotide variant	AARS-related disorder [RCV003335174]\|AARS1-related disorder [RCV004751322]\|Charcot-Marie-Tooth disease [RCV000999715]\|Charcot-Marie-Tooth disease axonal type 2N [RCV003311704]\|Charcot-Marie-Tooth disease type 2 [RCV000556774]\|Developmental and epileptic encephalopathy, 29 [RCV000170342]\|Inborn genetic diseases [RCV002460950]\|not provided [RCV000236870]	Chr16:70255763 [GRCh38] Chr16:70289666 [GRCh37] Chr16:16q22.1	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.986G>A (p.Arg329His)	single nucleotide variant	AARS1-related disorder [RCV004730838]\|Charcot-Marie-Tooth disease [RCV000192253]\|Charcot-Marie-Tooth disease axonal type 2N [RCV000008987]\|Charcot-Marie-Tooth disease type 2 [RCV000168406]\|not provided [RCV001269580]	Chr16:70268356 [GRCh38] Chr16:70302259 [GRCh37] Chr16:16q22.1	pathogenic\|likely pathogenic
NM_001605.3(AARS1):c.211A>T (p.Asn71Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000023068]	Chr16:70277088 [GRCh38] Chr16:70310991 [GRCh37] Chr16:16q22.1	pathogenic\|conflicting interpretations of pathogenicity
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	copy number gain	See cases [RCV000052405]	Chr16:56883592..71279975 [GRCh38] Chr16:56917504..71313878 [GRCh37] Chr16:55475005..69871379 [NCBI36] Chr16:16q13-22.2	pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	copy number gain	See cases [RCV000052408]	Chr16:58456122..74708723 [GRCh38] Chr16:58490026..74742621 [GRCh37] Chr16:57047527..73300122 [NCBI36] Chr16:16q21-23.1	pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	copy number gain	See cases [RCV000052421]	Chr16:65313395..90081985 [GRCh38] Chr16:65347298..90148393 [GRCh37] Chr16:63904799..88675894 [NCBI36] Chr16:16q21-24.3	pathogenic
GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	copy number loss	See cases [RCV000053356]	Chr16:69918076..76723348 [GRCh38] Chr16:69951979..76757245 [GRCh37] Chr16:68509480..75314746 [NCBI36] Chr16:16q22.1-23.1	pathogenic
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]\|See cases [RCV000053334]	Chr16:63318997..70555249 [GRCh38] Chr16:63352901..70589152 [GRCh37] Chr16:61910402..69146653 [NCBI36] Chr16:16q21-22.1	pathogenic
GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	copy number loss	See cases [RCV000053337]	Chr16:68698941..74353205 [GRCh38] Chr16:68732844..74387103 [GRCh37] Chr16:67290345..72944604 [NCBI36] Chr16:16q22.1-23.1	pathogenic
NM_001605.3(AARS1):c.2677G>A (p.Asp893Asn)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV003311705]\|not provided [RCV000171127]	Chr16:70253312 [GRCh38] Chr16:70287215 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.242A>C (p.Lys81Thr)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV003311703]\|Developmental and epileptic encephalopathy, 29 [RCV000170341]\|not provided [RCV000236174]	Chr16:70277057 [GRCh38] Chr16:70310960 [GRCh37] Chr16:16q22.1	pathogenic\|likely pathogenic\|uncertain significance
NM_001605.3(AARS1):c.1765G>T (p.Val589Phe)	single nucleotide variant	not provided [RCV003126356]	Chr16:70261064 [GRCh38] Chr16:70294967 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1398C>T (p.Asp466=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001454608]\|not provided [RCV001813011]\|not specified [RCV005057213]	Chr16:70265052 [GRCh38] Chr16:70298955 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2664G>A (p.Met888Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003104242]	Chr16:70253325 [GRCh38] Chr16:70287228 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000509259]\|Charcot-Marie-Tooth disease type 2 [RCV000204958]\|not provided [RCV000143803]\|not specified [RCV000736083]	Chr16:70261144 [GRCh38] Chr16:70295047 [GRCh37] Chr16:16q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|not provided
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000999712]\|Charcot-Marie-Tooth disease axonal type 2N [RCV001121845]\|Charcot-Marie-Tooth disease type 2 [RCV001086355]\|Inborn genetic diseases [RCV002460928]\|not provided [RCV000143804]	Chr16:70255829 [GRCh38] Chr16:70289732 [GRCh37] Chr16:16q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000625090]\|Charcot-Marie-Tooth disease type 2 [RCV000204097]\|not provided [RCV000143805]\|not specified [RCV001698971]	Chr16:70252837 [GRCh38] Chr16:70286740 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_001605.3(AARS1):c.497T>G (p.Ile166Ser)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000144883]\|Charcot-Marie-Tooth disease type 2 [RCV000204212]\|Inborn genetic diseases [RCV002460929]\|not provided [RCV001550137]	Chr16:70271955 [GRCh38] Chr16:70305858 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	copy number gain	See cases [RCV000135863]	Chr16:62925929..84585795 [GRCh38] Chr16:62959833..84619401 [GRCh37] Chr16:61517334..83176902 [NCBI36] Chr16:16q21-24.1	pathogenic
GRCh38/hg38 16q22.1(chr16:69144650-70257882)x1	copy number loss	See cases [RCV000136580]	Chr16:69144650..70257882 [GRCh38] Chr16:69178553..70291785 [GRCh37] Chr16:67736054..68849286 [NCBI36] Chr16:16q22.1	uncertain significance
GRCh38/hg38 16q22.1-22.2(chr16:69918076-71541872)x3	copy number gain	See cases [RCV000137875]	Chr16:69918076..71541872 [GRCh38] Chr16:69951979..71575775 [GRCh37] Chr16:68509480..70133276 [NCBI36] Chr16:16q22.1-22.2	uncertain significance
NM_001605.3(AARS1):c.922G>A (p.Ala308Thr)	single nucleotide variant	not provided [RCV000514515]	Chr16:70269658 [GRCh38] Chr16:70303561 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	copy number gain	See cases [RCV000139426]	Chr16:65511483..90096995 [GRCh38] Chr16:65545386..90163403 [GRCh37] Chr16:64102887..88690904 [NCBI36] Chr16:16q21-24.3	pathogenic
GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	copy number gain	See cases [RCV000142038]	Chr16:69053457..83274681 [GRCh38] Chr16:69087360..83308286 [GRCh37] Chr16:67644861..81865787 [NCBI36] Chr16:16q22.1-23.3	pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	copy number gain	See cases [RCV000142578]	Chr16:64389378..90081985 [GRCh38] Chr16:64423281..90148393 [GRCh37] Chr16:62980782..88675894 [NCBI36] Chr16:16q21-24.3	pathogenic\|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	copy number gain	See cases [RCV000143425]	Chr16:52899183..90088654 [GRCh38] Chr16:52933095..90155062 [GRCh37] Chr16:51490596..88682563 [NCBI36] Chr16:16q12.2-24.3	pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	copy number gain	See cases [RCV000143742]	Chr16:65957829..83611443 [GRCh38] Chr16:65991732..83645048 [GRCh37] Chr16:64549233..82202549 [NCBI36] Chr16:16q21-23.3	pathogenic
NM_001605.3(AARS1):c.2521-3C>T	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000625091]\|Charcot-Marie-Tooth disease type 2 [RCV000198276]\|Inborn genetic diseases [RCV002460954]\|not provided [RCV000513290]\|not specified [RCV000175419]	Chr16:70253803 [GRCh38] Chr16:70287706 [GRCh37] Chr16:16q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.600C>T (p.Ala200=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001115372]\|Charcot-Marie-Tooth disease type 2 [RCV001079599]\|Inborn genetic diseases [RCV002460956]\|not provided [RCV000658751]	Chr16:70271852 [GRCh38] Chr16:70305755 [GRCh37] Chr16:16q22.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.1672-4T>A	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001094241]\|Charcot-Marie-Tooth disease axonal type 2N [RCV002500617]\|Charcot-Marie-Tooth disease type 2 [RCV000197414]\|Inborn genetic diseases [RCV002460979]\|not provided [RCV000487524]\|not specified [RCV000593610]	Chr16:70261161 [GRCh38] Chr16:70295064 [GRCh37] Chr16:16q22.1	benign\|likely benign\|uncertain significance
NM_001605.3(AARS1):c.2275G>A (p.Glu759Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000197440]\|Inborn genetic diseases [RCV002519573]\|not provided [RCV000235633]	Chr16:70255739 [GRCh38] Chr16:70289642 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2628G>C (p.Lys876Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000199332]	Chr16:70253361 [GRCh38] Chr16:70287264 [GRCh37] Chr16:16q22.1	likely pathogenic\|uncertain significance
NM_001605.3(AARS1):c.1680G>C (p.Glu560Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000200202]	Chr16:70261149 [GRCh38] Chr16:70295052 [GRCh37] Chr16:16q22.1	likely pathogenic\|uncertain significance
NM_001605.3(AARS1):c.700C>T (p.Pro234Ser)	single nucleotide variant	AARS1-related disorder [RCV003917819]\|Charcot-Marie-Tooth disease axonal type 2N [RCV001094477]\|Charcot-Marie-Tooth disease axonal type 2N [RCV002492916]\|Charcot-Marie-Tooth disease type 2 [RCV000200493]\|Inborn genetic diseases [RCV002460981]\|not provided [RCV000488107]	Chr16:70270312 [GRCh38] Chr16:70304215 [GRCh37] Chr16:16q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.2608-6C>A	single nucleotide variant	AARS1-related disorder [RCV003947645]\|Charcot-Marie-Tooth disease axonal type 2N [RCV001118328]\|Charcot-Marie-Tooth disease type 2 [RCV000200514]\|Inborn genetic diseases [RCV002460980]\|not provided [RCV004567407]	Chr16:70253387 [GRCh38] Chr16:70287290 [GRCh37] Chr16:16q22.1	pathogenic\|benign\|likely benign
NM_001605.3(AARS1):c.2333A>C (p.Glu778Ala)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000192254]	Chr16:70254688 [GRCh38] Chr16:70288591 [GRCh37] Chr16:16q22.1	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.1044G>C (p.Thr348=)	single nucleotide variant	AARS1-related disorder [RCV003977750]\|Charcot-Marie-Tooth disease axonal type 2N [RCV001094401]\|Charcot-Marie-Tooth disease axonal type 2N [RCV002494831]\|Charcot-Marie-Tooth disease type 2 [RCV000465337]\|Inborn genetic diseases [RCV002461054]\|not provided [RCV001812768]\|not specified [RCV000352256]	Chr16:70268298 [GRCh38] Chr16:70302201 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_001605.3(AARS1):c.903C>T (p.His301=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000613550]\|Charcot-Marie-Tooth disease type 2 [RCV000382444]\|not provided [RCV001706419]\|not specified [RCV000374249]	Chr16:70269677 [GRCh38] Chr16:70303580 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg)	single nucleotide variant	AARS1-related disorder [RCV003917848]\|Charcot-Marie-Tooth disease axonal type 2N [RCV001094393]\|Charcot-Marie-Tooth disease type 2 [RCV000204476]\|Inborn genetic diseases [RCV002460991]\|not provided [RCV000440156]\|not specified [RCV000443439]	Chr16:70253980 [GRCh38] Chr16:70287883 [GRCh37] Chr16:16q22.1	likely benign\|conflicting interpretations of pathogenicity
NM_001605.3(AARS1):c.2400+8C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000206763]	Chr16:70254613 [GRCh38] Chr16:70288516 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000625089]\|Charcot-Marie-Tooth disease axonal type 2N [RCV002500655]\|Charcot-Marie-Tooth disease type 2 [RCV000204138]\|not provided [RCV001706199]\|not specified [RCV001699156]	Chr16:70252728 [GRCh38] Chr16:70286631 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_001605.3(AARS1):c.849T>C (p.Val283=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000204162]\|Inborn genetic diseases [RCV002460988]\|not provided [RCV001310334]\|not specified [RCV000613606]	Chr16:70269731 [GRCh38] Chr16:70303634 [GRCh37] Chr16:16q22.1	likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207138]	Chr16:46615804..90142285 [GRCh37] Chr16:16q11.2-24.3	uncertain significance
NM_001605.3(AARS1):c.958C>T (p.Arg320Cys)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000999722]\|Charcot-Marie-Tooth disease type 2 [RCV000545105]\|Inborn genetic diseases [RCV002461363]	Chr16:70269622 [GRCh38] Chr16:70303525 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207067]	Chr16:55359026..70884455 [GRCh37] Chr16:16q12.2-22.2	likely pathogenic\|uncertain significance
Single allele	complex	Breast ductal adenocarcinoma [RCV000207314]	Chr16:56368689..90141355 [GRCh37] Chr16:16q12.2-24.3	uncertain significance
NM_001605.3(AARS1):c.1897C>T (p.Arg633Cys)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV002288920]\|Charcot-Marie-Tooth disease type 2 [RCV000229686]\|Inborn genetic diseases [RCV004965334]	Chr16:70259075 [GRCh38] Chr16:70292978 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001094346]\|Charcot-Marie-Tooth disease axonal type 2N [RCV002503904]\|Charcot-Marie-Tooth disease type 2 [RCV000227964]\|Inborn genetic diseases [RCV002460999]\|not provided [RCV001706256]\|not specified [RCV000371209]	Chr16:70265046 [GRCh38] Chr16:70298949 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_001605.3(AARS1):c.510C>A (p.Asn170Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000231187]\|not provided [RCV004692854]	Chr16:70271942 [GRCh38] Chr16:70305845 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2593G>A (p.Gly865Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000233528]	Chr16:70253728 [GRCh38] Chr16:70287631 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1290A>G (p.Glu430=)	single nucleotide variant	Inborn genetic diseases [RCV002462120]\|not provided [RCV000755762]	Chr16:70265595 [GRCh38] Chr16:70299498 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2207C>T (p.Ala736Val)	single nucleotide variant	not provided [RCV000235234]	Chr16:70255807 [GRCh38] Chr16:70289710 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1222G>A (p.Gly408Arg)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000999705]\|Charcot-Marie-Tooth disease type 2 [RCV002229682]\|not provided [RCV000235471]	Chr16:70267659 [GRCh38] Chr16:70301562 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.95T>C (p.Ile32Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001424157]\|not provided [RCV000235781]	Chr16:70282669 [GRCh38] Chr16:70316572 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1481G>T (p.Ser494Ile)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001118435]\|Charcot-Marie-Tooth disease type 2 [RCV001089010]\|not provided [RCV000235750]	Chr16:70264969 [GRCh38] Chr16:70298872 [GRCh37] Chr16:16q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.917C>T (p.Thr306Ile)	single nucleotide variant	not provided [RCV000235830]	Chr16:70269663 [GRCh38] Chr16:70303566 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000687989]\|Developmental and epileptic encephalopathy, 29 [RCV000995470]\|not provided [RCV000235881]	Chr16:70252890 [GRCh38] Chr16:70286793 [GRCh37] Chr16:16q22.1	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.403G>A (p.Val135Ile)	single nucleotide variant	not provided [RCV000235912]	Chr16:70276562 [GRCh38] Chr16:70310465 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2222C>T (p.Thr741Met)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000999714]\|Charcot-Marie-Tooth disease type 2 [RCV000548635]\|not provided [RCV000236072]	Chr16:70255792 [GRCh38] Chr16:70289695 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1408A>T (p.Ile470Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001037059]\|not provided [RCV000236095]	Chr16:70265042 [GRCh38] Chr16:70298945 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1067C>T (p.Ser356Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000814709]\|not provided [RCV000236173]	Chr16:70268275 [GRCh38] Chr16:70302178 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2552G>A (p.Ser851Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001340583]\|not provided [RCV000236178]	Chr16:70253769 [GRCh38] Chr16:70287672 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1003G>A (p.Ala335Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000694295]\|Inborn genetic diseases [RCV004965353]\|not provided [RCV000236274]	Chr16:70268339 [GRCh38] Chr16:70302242 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.355C>G (p.Leu119Val)	single nucleotide variant	not provided [RCV000236370]	Chr16:70276610 [GRCh38] Chr16:70310513 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.385C>G (p.Pro129Ala)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000999718]\|Charcot-Marie-Tooth disease type 2 [RCV000653927]\|Inborn genetic diseases [RCV002461034]\|not provided [RCV000236492]	Chr16:70276580 [GRCh38] Chr16:70310483 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.518A>G (p.Asp173Gly)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001094248]\|Charcot-Marie-Tooth disease type 2 [RCV000477239]\|Inborn genetic diseases [RCV002461031]\|not provided [RCV000236496]	Chr16:70271934 [GRCh38] Chr16:70305837 [GRCh37] Chr16:16q22.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.1367G>T (p.Gly456Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000797124]\|not provided [RCV000236722]	Chr16:70265083 [GRCh38] Chr16:70298986 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000765312]\|Charcot-Marie-Tooth disease type 2 [RCV000704888]\|Inborn genetic diseases [RCV002461032]\|not provided [RCV000236790]	Chr16:70255828 [GRCh38] Chr16:70289731 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.823G>A (p.Gly275Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653894]\|Inborn genetic diseases [RCV002461035]\|not provided [RCV000236819]	Chr16:70269757 [GRCh38] Chr16:70303660 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1664G>T (p.Ser555Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001203095]\|Developmental and epileptic encephalopathy, 29 [RCV004730916]\|Inborn genetic diseases [RCV002461030]\|not provided [RCV000236958]	Chr16:70262353 [GRCh38] Chr16:70296256 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.383T>C (p.Ile128Thr)	single nucleotide variant	not provided [RCV000237036]	Chr16:70276582 [GRCh38] Chr16:70310485 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1108A>G (p.Met370Val)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000999703]\|Charcot-Marie-Tooth disease type 2 [RCV001087898]\|Inborn genetic diseases [RCV002461036]\|not provided [RCV000237086]	Chr16:70267773 [GRCh38] Chr16:70301676 [GRCh37] Chr16:16q22.1	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.-22+19G>A	single nucleotide variant	not specified [RCV000600487]	Chr16:70289402 [GRCh38] Chr16:70323305 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.81C>T (p.His27=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002528698]\|Inborn genetic diseases [RCV002461927]\|not specified [RCV000605988]	Chr16:70282683 [GRCh38] Chr16:70316586 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.259G>A (p.Asp87Asn)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001174954]\|Charcot-Marie-Tooth disease type 2 [RCV002527596]\|Developmental and epileptic encephalopathy, 29 [RCV001175107]\|not provided [RCV000656260]	Chr16:70277040 [GRCh38] Chr16:70310943 [GRCh37] Chr16:16q22.1	likely pathogenic\|uncertain significance
GRCh37/hg19 16q22.1(chr16:69986596-70316676)x3	copy number gain	See cases [RCV000239952]	Chr16:69986596..70316676 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q22.1(chr16:70286372-70358642)x1	copy number loss	See cases [RCV000239859]	Chr16:70286372..70358642 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1220C>A (p.Pro407His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000528290]	Chr16:70267661 [GRCh38] Chr16:70301564 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000999706]\|Charcot-Marie-Tooth disease axonal type 2N [RCV001094399]\|Charcot-Marie-Tooth disease type 2 [RCV000653852]\|Inborn genetic diseases [RCV002461086]	Chr16:70265632 [GRCh38] Chr16:70299535 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.2(AARS1):c.-108T>C	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000265414]	Chr16:70289507 [GRCh38] Chr16:70323410 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2129C>T (p.Pro710Leu)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000857009]\|Charcot-Marie-Tooth disease axonal type 2N [RCV000284323]\|Charcot-Marie-Tooth disease type 2 [RCV002229869]\|not provided [RCV002510852]	Chr16:70258081 [GRCh38] Chr16:70291984 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.*251A>C	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000302708]\|not provided [RCV001537481]	Chr16:70252470 [GRCh38] Chr16:70286373 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_001605.3(AARS1):c.*74A>T	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000304056]\|not provided [RCV001672525]	Chr16:70252647 [GRCh38] Chr16:70286550 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_001605.3(AARS1):c.962+15C>T	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000287382]\|Charcot-Marie-Tooth disease type 2 [RCV002522887]	Chr16:70269603 [GRCh38] Chr16:70303506 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.824G>A (p.Gly275Asp)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000986178]\|Charcot-Marie-Tooth disease type 2 [RCV000460865]\|not provided [RCV001540662]	Chr16:70269756 [GRCh38] Chr16:70303659 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_001605.3(AARS1):c.1596C>A (p.Thr532=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000274720]\|Inborn genetic diseases [RCV002461082]	Chr16:70262421 [GRCh38] Chr16:70296324 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2700G>A (p.Thr900=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001094340]\|Charcot-Marie-Tooth disease type 2 [RCV000538815]\|Inborn genetic diseases [RCV002461073]\|not provided [RCV001706513]	Chr16:70253289 [GRCh38] Chr16:70287192 [GRCh37] Chr16:16q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.1410C>T (p.Ile470=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000529778]\|Charcot-Marie-Tooth disease type 2 [RCV001522062]\|Inborn genetic diseases [RCV002461084]\|not provided [RCV000858605]	Chr16:70265040 [GRCh38] Chr16:70298943 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_001605.3(AARS1):c.333+3A>C	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001094352]\|Charcot-Marie-Tooth disease type 2 [RCV000540050]\|Inborn genetic diseases [RCV002461090]	Chr16:70276963 [GRCh38] Chr16:70310866 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2715T>C (p.Val905=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000606519]\|Charcot-Marie-Tooth disease type 2 [RCV000364752]\|Developmental and epileptic encephalopathy, 29 [RCV001544476]\|not provided [RCV001706512]\|not specified [RCV001699365]	Chr16:70253274 [GRCh38] Chr16:70287177 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.2378G>C (p.Arg793Thr)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000280890]	Chr16:70254643 [GRCh38] Chr16:70288546 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1120A>G (p.Ile374Val)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001094400]\|Charcot-Marie-Tooth disease type 2 [RCV000653879]\|not provided [RCV003422271]	Chr16:70267761 [GRCh38] Chr16:70301664 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1611G>T (p.Glu537Asp)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000366754]\|Inborn genetic diseases [RCV002461081]	Chr16:70262406 [GRCh38] Chr16:70296309 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.*169C>G	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000392008]	Chr16:70252552 [GRCh38] Chr16:70286455 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001094475]\|Charcot-Marie-Tooth disease type 2 [RCV000344744]\|Inborn genetic diseases [RCV002461087]\|not provided [RCV000436624]	Chr16:70269676 [GRCh38] Chr16:70303579 [GRCh37] Chr16:16q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.2217C>T (p.Ile739=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001094394]\|Charcot-Marie-Tooth disease type 2 [RCV000536143]\|Inborn genetic diseases [RCV002461076]\|not provided [RCV000761938]	Chr16:70255797 [GRCh38] Chr16:70289700 [GRCh37] Chr16:16q22.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.1168C>T (p.Arg390Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000547714]\|not provided [RCV000342176]	Chr16:70267713 [GRCh38] Chr16:70301616 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1493-7T>C	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001094345]\|Charcot-Marie-Tooth disease type 2 [RCV000653995]\|not specified [RCV004782355]	Chr16:70262531 [GRCh38] Chr16:70296434 [GRCh37] Chr16:16q22.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.806C>G (p.Ala269Gly)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000348141]	Chr16:70270206 [GRCh38] Chr16:70304109 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2421C>A (p.Ile807=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000372058]\|Charcot-Marie-Tooth disease type 2 [RCV003743698]\|Inborn genetic diseases [RCV002461075]	Chr16:70254018 [GRCh38] Chr16:70287921 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2192C>T (p.Ser731Leu)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000999713]\|Charcot-Marie-Tooth disease type 2 [RCV000705005]\|Inborn genetic diseases [RCV002461055]\|not provided [RCV000347277]	Chr16:70255822 [GRCh38] Chr16:70289725 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1824G>A (p.Thr608=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000306413]\|Charcot-Marie-Tooth disease type 2 [RCV002521064]\|Inborn genetic diseases [RCV002461079]\|not specified [RCV000422951]	Chr16:70259148 [GRCh38] Chr16:70293051 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2732A>G (p.Asn911Ser)	single nucleotide variant	AARS1-related disorder [RCV003409502]\|Charcot-Marie-Tooth disease [RCV000999717]\|Charcot-Marie-Tooth disease axonal type 2N [RCV001094339]\|Charcot-Marie-Tooth disease type 2 [RCV000551294]\|Inborn genetic diseases [RCV002461072]\|not provided [RCV002248617]	Chr16:70252896 [GRCh38] Chr16:70286799 [GRCh37] Chr16:16q22.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.671+3A>G	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000986179]\|Charcot-Marie-Tooth disease type 2 [RCV000460605]\|not provided [RCV001712033]	Chr16:70271778 [GRCh38] Chr16:70305681 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_001605.3(AARS1):c.1332G>A (p.Glu444=)	single nucleotide variant	AARS1-related disorder [RCV003922353]\|Charcot-Marie-Tooth disease axonal type 2N [RCV001094398]\|Charcot-Marie-Tooth disease type 2 [RCV000476186]\|Inborn genetic diseases [RCV002461085]\|not provided [RCV001706514]\|not specified [RCV000442872]	Chr16:70265553 [GRCh38] Chr16:70299456 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_001605.3(AARS1):c.1846C>T (p.Arg616Cys)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001094472]\|Charcot-Marie-Tooth disease type 2 [RCV000653923]\|Inborn genetic diseases [RCV002461078]\|not provided [RCV001812852]	Chr16:70259126 [GRCh38] Chr16:70293029 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.561C>T (p.Cys187=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001094247]\|Charcot-Marie-Tooth disease type 2 [RCV000653977]\|Inborn genetic diseases [RCV002461089]\|not provided [RCV003422272]\|not specified [RCV000439902]	Chr16:70271891 [GRCh38] Chr16:70305794 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_001605.3(AARS1):c.2596G>A (p.Ala866Thr)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001094341]\|Charcot-Marie-Tooth disease type 2 [RCV000330046]\|Inborn genetic diseases [RCV004021671]\|not provided [RCV001753779]	Chr16:70253725 [GRCh38] Chr16:70287628 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.741G>A (p.Leu247=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001094476]\|Charcot-Marie-Tooth disease type 2 [RCV000466442]\|Inborn genetic diseases [RCV002461088]\|not provided [RCV001718666]	Chr16:70270271 [GRCh38] Chr16:70304174 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_001605.3(AARS1):c.2240A>G (p.Lys747Arg)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000338223]	Chr16:70255774 [GRCh38] Chr16:70289677 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.480-8T>G	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000354251]\|Charcot-Marie-Tooth disease type 2 [RCV003743699]\|not provided [RCV001090445]	Chr16:70271980 [GRCh38] Chr16:70305883 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2047C>T (p.Arg683Trp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000542847]\|not provided [RCV000397110]	Chr16:70258163 [GRCh38] Chr16:70292066 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.*213C>T	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000357566]	Chr16:70252508 [GRCh38] Chr16:70286411 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.64G>A (p.Glu22Lys)	single nucleotide variant	AARS1-related disorder [RCV003950088]\|Charcot-Marie-Tooth disease axonal type 2N [RCV001094353]\|Charcot-Marie-Tooth disease type 2 [RCV000541559]\|not provided [RCV000514901]	Chr16:70282700 [GRCh38] Chr16:70316603 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_001605.3(AARS1):c.2109G>C (p.Val703=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000341561]\|Charcot-Marie-Tooth disease type 2 [RCV002229957]\|Inborn genetic diseases [RCV002461077]	Chr16:70258101 [GRCh38] Chr16:70292004 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1737C>T (p.Ile579=)	single nucleotide variant	AARS1-related disorder [RCV003910218]\|Charcot-Marie-Tooth disease axonal type 2N [RCV001094240]\|Charcot-Marie-Tooth disease type 2 [RCV000474013]\|Inborn genetic diseases [RCV002461080]\|not provided [RCV001532281]\|not specified [RCV000436989]	Chr16:70261092 [GRCh38] Chr16:70294995 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_001605.3(AARS1):c.2580G>A (p.Leu860=)	single nucleotide variant	AARS1-related disorder [RCV003969907]\|Charcot-Marie-Tooth disease [RCV000999716]\|Charcot-Marie-Tooth disease axonal type 2N [RCV001094392]\|Charcot-Marie-Tooth disease type 2 [RCV000526102]\|Inborn genetic diseases [RCV002461074]\|not provided [RCV000585471]	Chr16:70253741 [GRCh38] Chr16:70287644 [GRCh37] Chr16:16q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.*324G>A	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000390131]	Chr16:70252397 [GRCh38] Chr16:70286300 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1519A>G (p.Met507Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002230962]\|not provided [RCV000487814]	Chr16:70262498 [GRCh38] Chr16:70296401 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1535AGA[1] (p.Lys513del)	microsatellite	Charcot-Marie-Tooth disease type 2 [RCV000554950]	Chr16:70262477..70262479 [GRCh38] Chr16:70296380..70296382 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.141C>A (p.Asn47Lys)	single nucleotide variant	Developmental and epileptic encephalopathy, 29 [RCV002284977]	Chr16:70282623 [GRCh38] Chr16:70316526 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2328C>T (p.Val776=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001431381]\|Inborn genetic diseases [RCV002461360]	Chr16:70254693 [GRCh38] Chr16:70288596 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1672-7C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000530969]	Chr16:70261164 [GRCh38] Chr16:70295067 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.732G>A (p.Leu244=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002526740]	Chr16:70270280 [GRCh38] Chr16:70304183 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.91A>G (p.Thr31Ala)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000300599]\|Charcot-Marie-Tooth disease type 2 [RCV002229870]	Chr16:70282673 [GRCh38] Chr16:70316576 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1587G>A (p.Leu529=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000313430]\|Charcot-Marie-Tooth disease type 2 [RCV003581650]\|Inborn genetic diseases [RCV002461083]	Chr16:70262430 [GRCh38] Chr16:70296333 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2871del (p.Phe958fs)	deletion	not provided [RCV000598928]	Chr16:70252757 [GRCh38] Chr16:70286660 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.846A>G (p.Lys282=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002232395]	Chr16:70269734 [GRCh38] Chr16:70303637 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.327_331del (p.Tyr109_Lys111delinsTer)	deletion	Charcot-Marie-Tooth disease type 2 [RCV003767415]\|not provided [RCV000599377]	Chr16:70276968..70276972 [GRCh38] Chr16:70310871..70310875 [GRCh37] Chr16:16q22.1	pathogenic\|likely pathogenic
NM_001605.3(AARS1):c.2112C>T (p.Ser704=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002232247]\|Inborn genetic diseases [RCV002461916]\|not specified [RCV000601250]	Chr16:70258098 [GRCh38] Chr16:70292001 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.5A>G (p.Asp2Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001362813]\|not provided [RCV000522180]	Chr16:70282759 [GRCh38] Chr16:70316662 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2028G>A (p.Ala676=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001441612]\|Inborn genetic diseases [RCV002461359]	Chr16:70258182 [GRCh38] Chr16:70292085 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2177C>T (p.Thr726Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581702]\|not provided [RCV000656261]	Chr16:70258033 [GRCh38] Chr16:70291936 [GRCh37] Chr16:16q22.1	likely pathogenic\|uncertain significance
NM_001605.3(AARS1):c.962+185dup	duplication	not provided [RCV001564664]	Chr16:70269432..70269433 [GRCh38] Chr16:70303335..70303336 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2089G>A (p.Val697Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743705]\|not provided [RCV000584988]\|not specified [RCV000414673]	Chr16:70258121 [GRCh38] Chr16:70292024 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1528C>T (p.Arg510Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000796118]\|Inborn genetic diseases [RCV002461134]\|not provided [RCV000414707]	Chr16:70262489 [GRCh38] Chr16:70296392 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2702G>A (p.Cys901Tyr)	single nucleotide variant	Trichothiodystrophy 8, nonphotosensitive [RCV001804212]	Chr16:70253287 [GRCh38] Chr16:70287190 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.2267C>T (p.Thr756Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236025]\|Trichothiodystrophy 8, nonphotosensitive [RCV001804214]	Chr16:70255747 [GRCh38] Chr16:70289650 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.2105C>T (p.Pro702Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000559807]\|Inborn genetic diseases [RCV004024371]	Chr16:70258105 [GRCh38] Chr16:70292008 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1996G>A (p.Val666Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000560680]\|Inborn genetic diseases [RCV002461358]	Chr16:70258214 [GRCh38] Chr16:70292117 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1515G>A (p.Thr505=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581653]\|Inborn genetic diseases [RCV002461136]\|not specified [RCV000412994]	Chr16:70262502 [GRCh38] Chr16:70296405 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
GRCh37/hg19 16q22.1(chr16:70024576-70673886)x3	copy number gain	See cases [RCV000449413]	Chr16:70024576..70673886 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3	copy number gain	See cases [RCV000446110]	Chr16:46464488..90155062 [GRCh37] Chr16:16q11.2-24.3	pathogenic
GRCh37/hg19 16q22.1-22.2(chr16:70273406-70960990)x3	copy number gain	See cases [RCV000446624]	Chr16:70273406..70960990 [GRCh37] Chr16:16q22.1-22.2	uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	copy number gain	See cases [RCV000446684]	Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
NM_001605.3(AARS1):c.581G>A (p.Arg194Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000461591]\|Inborn genetic diseases [RCV004022400]\|not provided [RCV000420705]	Chr16:70271871 [GRCh38] Chr16:70305774 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2401-11A>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743720]\|not specified [RCV000444978]	Chr16:70254049 [GRCh38] Chr16:70287952 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2178-14G>A	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001121846]\|Charcot-Marie-Tooth disease type 2 [RCV002229916]\|not specified [RCV000437870]	Chr16:70255850 [GRCh38] Chr16:70289753 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1275T>C (p.Thr425=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001471474]\|Inborn genetic diseases [RCV002461174]\|not provided [RCV000727507]\|not specified [RCV000438029]	Chr16:70265610 [GRCh38] Chr16:70299513 [GRCh37] Chr16:16q22.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.145-17C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002230282]\|not specified [RCV000441569]	Chr16:70277171 [GRCh38] Chr16:70311074 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1244A>G (p.Tyr415Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653855]\|Inborn genetic diseases [RCV002461167]\|not provided [RCV000441580]	Chr16:70265641 [GRCh38] Chr16:70299544 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.621C>T (p.Asp207=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000861386]\|Inborn genetic diseases [RCV002461169]\|not provided [RCV001721343]	Chr16:70271831 [GRCh38] Chr16:70305734 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1419C>G (p.Leu473=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001499644]\|Inborn genetic diseases [RCV002461138]\|not provided [RCV004705524]\|not specified [RCV000427608]	Chr16:70265031 [GRCh38] Chr16:70298934 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.962+18T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002230022]\|not provided [RCV001810917]\|not specified [RCV000434612]	Chr16:70269600 [GRCh38] Chr16:70303503 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_001605.3(AARS1):c.1671+10C>T	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001115276]\|Charcot-Marie-Tooth disease type 2 [RCV000459791]\|not provided [RCV001721411]	Chr16:70262336 [GRCh38] Chr16:70296239 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2521-10T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001465700]\|not provided [RCV001721304]	Chr16:70253810 [GRCh38] Chr16:70287713 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1060G>A (p.Val354Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002230062]\|not provided [RCV000438880]	Chr16:70268282 [GRCh38] Chr16:70302185 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2532G>A (p.Lys844=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002230267]\|Inborn genetic diseases [RCV002461161]\|not specified [RCV000418852]	Chr16:70253789 [GRCh38] Chr16:70287692 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.310T>C (p.Trp104Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001298338]\|Inborn genetic diseases [RCV004022315]\|not provided [RCV000424967]	Chr16:70276989 [GRCh38] Chr16:70310892 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2265C>T (p.Val755=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000537360]\|Inborn genetic diseases [RCV002461144]\|not specified [RCV000432314]	Chr16:70255749 [GRCh38] Chr16:70289652 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1812C>G (p.Asn604Lys)	single nucleotide variant	not provided [RCV000425506]	Chr16:70259160 [GRCh38] Chr16:70293063 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1842C>T (p.Ala614=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002230041]\|Inborn genetic diseases [RCV002461151]\|not provided [RCV003422402]\|not specified [RCV000435969]	Chr16:70259130 [GRCh38] Chr16:70293033 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1428G>C (p.Arg476=)	single nucleotide variant	AARS1-related disorder [RCV003942365]\|Charcot-Marie-Tooth disease axonal type 2N [RCV001118436]\|Charcot-Marie-Tooth disease type 2 [RCV000542217]\|Inborn genetic diseases [RCV002461148]\|not provided [RCV001703698]	Chr16:70265022 [GRCh38] Chr16:70298925 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_001605.3(AARS1):c.1704C>T (p.Val568=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001414772]\|not specified [RCV000419641]	Chr16:70261125 [GRCh38] Chr16:70295028 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.882C>T (p.Ala294=)	single nucleotide variant	Inborn genetic diseases [RCV002461160]\|not specified [RCV000425559]	Chr16:70269698 [GRCh38] Chr16:70303601 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2238C>T (p.Ala746=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002522457]\|Inborn genetic diseases [RCV002461171]\|not specified [RCV000422330]	Chr16:70255776 [GRCh38] Chr16:70289679 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.962+12G>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002230281]\|not specified [RCV000433129]	Chr16:70269606 [GRCh38] Chr16:70303509 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1546G>C (p.Val516Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001299591]\|Inborn genetic diseases [RCV002522363]\|not provided [RCV000443779]	Chr16:70262471 [GRCh38] Chr16:70296374 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.480-12C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002230051]\|not provided [RCV001698239]	Chr16:70271984 [GRCh38] Chr16:70305887 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.-30C>T	single nucleotide variant	not specified [RCV000433663]	Chr16:70289429 [GRCh38] Chr16:70323332 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1399A>G (p.Ile467Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000553492]\|Inborn genetic diseases [RCV004022515]\|not provided [RCV000444413]	Chr16:70265051 [GRCh38] Chr16:70298954 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.817-7T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001482256]\|not specified [RCV000430362]	Chr16:70269770 [GRCh38] Chr16:70303673 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2547C>T (p.Ile849=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000874183]\|Inborn genetic diseases [RCV002461150]\|not specified [RCV000440883]	Chr16:70253774 [GRCh38] Chr16:70287677 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1405G>A (p.Ala469Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000795287]\|Inborn genetic diseases [RCV002461164]\|not provided [RCV000423363]	Chr16:70265045 [GRCh38] Chr16:70298948 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.985C>T (p.Arg329Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002230949]\|not provided [RCV000480998]	Chr16:70268357 [GRCh38] Chr16:70302260 [GRCh37] Chr16:16q22.1	likely pathogenic\|uncertain significance
NM_001605.3(AARS1):c.1651G>A (p.Val551Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000467156]\|Inborn genetic diseases [RCV002461219]\|not provided [RCV004791477]	Chr16:70262366 [GRCh38] Chr16:70296269 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.894G>A (p.Leu298=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000460008]\|Inborn genetic diseases [RCV002461218]\|not provided [RCV003139670]	Chr16:70269686 [GRCh38] Chr16:70303589 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.-21-11dup	duplication	Charcot-Marie-Tooth disease axonal type 2N [RCV002496854]\|not specified [RCV000484595]	Chr16:70282794..70282795 [GRCh38] Chr16:70316697..70316698 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1992+5G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001048045]\|not provided [RCV000484987]	Chr16:70258975 [GRCh38] Chr16:70292878 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2017del (p.Leu673fs)	deletion	Charcot-Marie-Tooth disease type 2 [RCV000468199]	Chr16:70258193 [GRCh38] Chr16:70292096 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.1006C>T (p.His336Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000468388]	Chr16:70268336 [GRCh38] Chr16:70302239 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.525C>G (p.Phe175Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000472449]\|Inborn genetic diseases [RCV003168869]\|not provided [RCV003139669]	Chr16:70271927 [GRCh38] Chr16:70305830 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000999701]\|Charcot-Marie-Tooth disease axonal type 2N [RCV001330613]\|Charcot-Marie-Tooth disease type 2 [RCV000461393]\|Inborn genetic diseases [RCV002461217]\|not provided [RCV001700185]	Chr16:70268323 [GRCh38] Chr16:70302226 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.-27_-26insA	insertion	not provided [RCV001704599]	Chr16:70289425..70289426 [GRCh38] Chr16:70323328..70323329 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2166C>A (p.Phe722Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001081608]\|Inborn genetic diseases [RCV002461244]\|not provided [RCV000482541]	Chr16:70258044 [GRCh38] Chr16:70291947 [GRCh37] Chr16:16q22.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.865G>A (p.Asp289Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001410307]\|Inborn genetic diseases [RCV002461243]	Chr16:70269715 [GRCh38] Chr16:70303618 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.937G>A (p.Gly313Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000800839]\|Inborn genetic diseases [RCV002525969]\|not provided [RCV000478555]	Chr16:70269643 [GRCh38] Chr16:70303546 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q22.1(chr16:69385913-70336760)x1	copy number loss	See cases [RCV000510349]	Chr16:69385913..70336760 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	copy number gain	See cases [RCV000511622]	Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3	uncertain significance
NM_001605.3(AARS1):c.719C>A (p.Thr240Lys)	single nucleotide variant	not provided [RCV000494018]	Chr16:70270293 [GRCh38] Chr16:70304196 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2536A>G (p.Lys846Glu)	single nucleotide variant	not provided [RCV000494359]	Chr16:70253785 [GRCh38] Chr16:70287688 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1632C>T (p.Asp544=)	single nucleotide variant	AARS1-related disorder [RCV003960193]\|Charcot-Marie-Tooth disease type 2 [RCV000653968]\|Inborn genetic diseases [RCV002461263]\|not provided [RCV001704658]\|not specified [RCV000506789]	Chr16:70262385 [GRCh38] Chr16:70296288 [GRCh37] Chr16:16q22.1	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001605.3(AARS1):c.1949A>G (p.Lys650Arg)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000857010]\|Charcot-Marie-Tooth disease type 2 [RCV002231163]\|not provided [RCV000493238]	Chr16:70259023 [GRCh38] Chr16:70292926 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1347G>A (p.Gln449=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000698849]\|not provided [RCV001775970]	Chr16:70265538 [GRCh38] Chr16:70299441 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1624A>T (p.Ile542Phe)	single nucleotide variant	AARS1-related disorder [RCV004751668]\|Charcot-Marie-Tooth disease type 2 [RCV000698545]	Chr16:70262393 [GRCh38] Chr16:70296296 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1672-10C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002232580]\|not specified [RCV000603129]	Chr16:70261167 [GRCh38] Chr16:70295070 [GRCh37] Chr16:16q22.1	likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435]	Chr16:46455960..90354753 [GRCh37] Chr16:16q11.2-24.3	drug response
NM_001605.3(AARS1):c.959G>A (p.Arg320His)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV002491101]\|Charcot-Marie-Tooth disease type 2 [RCV000557786]\|Developmental and epileptic encephalopathy, 29 [RCV003448323]\|Inborn genetic diseases [RCV002461364]	Chr16:70269621 [GRCh38] Chr16:70303524 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.96C>T (p.Ile32=)	single nucleotide variant	Inborn genetic diseases [RCV002461925]\|not specified [RCV000605386]	Chr16:70282668 [GRCh38] Chr16:70316571 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1393C>G (p.Leu465Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744610]\|not specified [RCV000626184]	Chr16:70265057 [GRCh38] Chr16:70298960 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	copy number gain	See cases [RCV000511296]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
NM_001605.3(AARS1):c.1230T>C (p.Thr410=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000541010]\|Inborn genetic diseases [RCV002461356]	Chr16:70265655 [GRCh38] Chr16:70299558 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2287-16C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002232740]\|not specified [RCV000606913]	Chr16:70254750 [GRCh38] Chr16:70288653 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.-14G>A	single nucleotide variant	not specified [RCV000602806]	Chr16:70282777 [GRCh38] Chr16:70316680 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2108T>A (p.Val703Glu)	single nucleotide variant	Inborn genetic diseases [RCV003249918]	Chr16:70258102 [GRCh38] Chr16:70292005 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429]	Chr16:46497599..90354753 [GRCh37] Chr16:16q11.2-24.3	drug response
NM_001605.3(AARS1):c.1002C>T (p.Tyr334=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001452426]\|Inborn genetic diseases [RCV002461355]	Chr16:70268340 [GRCh38] Chr16:70302243 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.480-8T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653965]\|not provided [RCV001707763]	Chr16:70271980 [GRCh38] Chr16:70305883 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1001A>T (p.Tyr334Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000559648]\|Developmental and epileptic encephalopathy, 29 [RCV003448322]\|Inborn genetic diseases [RCV002461354]	Chr16:70268341 [GRCh38] Chr16:70302244 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2712A>G (p.Gln904=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581694]\|not specified [RCV000612758]	Chr16:70253277 [GRCh38] Chr16:70287180 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.63C>T (p.Asn21=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001118521]\|Charcot-Marie-Tooth disease type 2 [RCV002232640]\|Inborn genetic diseases [RCV002461362]	Chr16:70282701 [GRCh38] Chr16:70316604 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	copy number gain	See cases [RCV000512138]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
NM_001605.3(AARS1):c.-22+8G>A	single nucleotide variant	not specified [RCV000616456]	Chr16:70289413 [GRCh38] Chr16:70323316 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1811A>G (p.Asn604Ser)	single nucleotide variant	AARS1-related disorder [RCV004751651]\|Charcot-Marie-Tooth disease [RCV000999711]\|Charcot-Marie-Tooth disease type 2 [RCV000653836]\|Inborn genetic diseases [RCV002461991]\|not provided [RCV000761939]\|not specified [RCV004782492]	Chr16:70259161 [GRCh38] Chr16:70293064 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2817G>T (p.Gln939His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653838]	Chr16:70252811 [GRCh38] Chr16:70286714 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.577G>A (p.Asp193Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653839]	Chr16:70271875 [GRCh38] Chr16:70305778 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.542C>G (p.Thr181Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653846]\|Inborn genetic diseases [RCV003372793]	Chr16:70271910 [GRCh38] Chr16:70305813 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.958C>G (p.Arg320Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653860]\|not provided [RCV003411552]	Chr16:70269622 [GRCh38] Chr16:70303525 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1209C>T (p.Ser403=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653863]	Chr16:70267672 [GRCh38] Chr16:70301575 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2083C>T (p.Arg695Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653864]\|not provided [RCV004696967]	Chr16:70258127 [GRCh38] Chr16:70292030 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.2154T>G (p.Thr718=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653880]\|Inborn genetic diseases [RCV002461993]	Chr16:70258056 [GRCh38] Chr16:70291959 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.462G>C (p.Gln154His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653902]	Chr16:70276503 [GRCh38] Chr16:70310406 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1726A>C (p.Ile576Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653916]\|not specified [RCV003330868]	Chr16:70261103 [GRCh38] Chr16:70295006 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1275_1276del (p.Gly426fs)	deletion	Charcot-Marie-Tooth disease type 2 [RCV000653936]	Chr16:70265609..70265610 [GRCh38] Chr16:70299512..70299513 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.1953G>C (p.Lys651Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653943]	Chr16:70259019 [GRCh38] Chr16:70292922 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2003C>T (p.Thr668Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653944]	Chr16:70258207 [GRCh38] Chr16:70292110 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2046A>G (p.Leu682=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001408214]\|Inborn genetic diseases [RCV002461996]	Chr16:70258164 [GRCh38] Chr16:70292067 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.817-4A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653963]\|Inborn genetic diseases [RCV002461995]	Chr16:70269767 [GRCh38] Chr16:70303670 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2322C>T (p.Leu774=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653993]\|Inborn genetic diseases [RCV002461997]	Chr16:70254699 [GRCh38] Chr16:70288602 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.957G>A (p.Gly319=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653994]\|Inborn genetic diseases [RCV002461998]	Chr16:70269623 [GRCh38] Chr16:70303526 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1596C>T (p.Thr532=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000654028]\|Inborn genetic diseases [RCV002462002]	Chr16:70262421 [GRCh38] Chr16:70296324 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2841C>T (p.Cys947=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000653998]\|Inborn genetic diseases [RCV002461999]	Chr16:70252787 [GRCh38] Chr16:70286690 [GRCh37] Chr16:16q22.1	likely benign
NC_000016.9:g.(?_70286604)_(70296447_?)dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV000654039]	Chr16:70252701..70262544 [GRCh38] Chr16:70286604..70296447 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2286+6C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003777272]\|not provided [RCV003312349]	Chr16:70255722 [GRCh38] Chr16:70289625 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.-12G>C	single nucleotide variant	not specified [RCV000610595]	Chr16:70282775 [GRCh38] Chr16:70316678 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1836C>T (p.Asn612=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000654005]\|Inborn genetic diseases [RCV002462000]	Chr16:70259136 [GRCh38] Chr16:70293039 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1650G>A (p.Lys550=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000654017]	Chr16:70262367 [GRCh38] Chr16:70296270 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1509G>A (p.Val503=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001118434]\|Charcot-Marie-Tooth disease type 2 [RCV000654021]\|not provided [RCV005091876]	Chr16:70262508 [GRCh38] Chr16:70296411 [GRCh37] Chr16:16q22.1	benign\|likely benign\|uncertain significance
NM_001605.3(AARS1):c.1563A>G (p.Thr521=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000654023]\|Inborn genetic diseases [RCV002462001]	Chr16:70262454 [GRCh38] Chr16:70296357 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.962+16A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002232597]\|not specified [RCV000610705]	Chr16:70269602 [GRCh38] Chr16:70303505 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2054T>C (p.Val685Ala)	single nucleotide variant	Clubfoot [RCV000626810]	Chr16:70258156 [GRCh38] Chr16:70292059 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.109C>T (p.Pro37Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000539520]	Chr16:70282655 [GRCh38] Chr16:70316558 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.37C>A (p.Arg13=)	single nucleotide variant	Inborn genetic diseases [RCV002461930]\|not specified [RCV000608865]	Chr16:70282727 [GRCh38] Chr16:70316630 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2401-11A>G	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001119869]\|Charcot-Marie-Tooth disease type 2 [RCV002232738]\|not specified [RCV000612027]	Chr16:70254049 [GRCh38] Chr16:70287952 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	copy number gain	See cases [RCV000512511]	Chr16:57051473..89797669 [GRCh37] Chr16:16q13-24.3	pathogenic
NM_001605.3(AARS1):c.2521-5T>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002232573]\|not provided [RCV003139910]\|not specified [RCV000603550]	Chr16:70253805 [GRCh38] Chr16:70287708 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1993-4G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000871896]\|not specified [RCV000600467]	Chr16:70258221 [GRCh38] Chr16:70292124 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_001605.3(AARS1):c.453A>G (p.Glu151=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001466744]\|Inborn genetic diseases [RCV002461918]\|not specified [RCV000606185]	Chr16:70276512 [GRCh38] Chr16:70310415 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1267G>T (p.Asp423Tyr)	single nucleotide variant	not provided [RCV000513383]	Chr16:70265618 [GRCh38] Chr16:70299521 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2870C>G (p.Ser957Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000684888]\|Inborn genetic diseases [RCV002462015]\|not provided [RCV000755761]	Chr16:70252758 [GRCh38] Chr16:70286661 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.328T>C (p.Phe110Leu)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000664214]\|not provided [RCV004568484]	Chr16:70276971 [GRCh38] Chr16:70310874 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_001605.3(AARS1):c.2873T>C (p.Phe958Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 29 [RCV000664218]	Chr16:70252755 [GRCh38] Chr16:70286658 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_001605.3(AARS1):c.1077T>C (p.Asp359=)	single nucleotide variant	Inborn genetic diseases [RCV002462003]\|not provided [RCV000658750]	Chr16:70267804 [GRCh38] Chr16:70301707 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.176C>A (p.Pro59Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000685935]	Chr16:70277123 [GRCh38] Chr16:70311026 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	copy number gain	not provided [RCV000683820]	Chr16:54416050..72453266 [GRCh37] Chr16:16q12.2-22.2	pathogenic
NM_001605.3(AARS1):c.1514C>T (p.Thr505Met)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001809088]\|Charcot-Marie-Tooth disease type 2 [RCV005057641]	Chr16:70262503 [GRCh38] Chr16:70296406 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.212A>G (p.Asn71Ser)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001118520]\|Charcot-Marie-Tooth disease type 2 [RCV000702635]\|Inborn genetic diseases [RCV002536362]\|not provided [RCV002245611]	Chr16:70277087 [GRCh38] Chr16:70310990 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.797A>G (p.Tyr266Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000706935]	Chr16:70270215 [GRCh38] Chr16:70304118 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.226A>G (p.Ile76Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000690194]	Chr16:70277073 [GRCh38] Chr16:70310976 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1805T>C (p.Met602Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000704639]\|Inborn genetic diseases [RCV002462057]\|not provided [RCV001592902]\|not specified [RCV003317351]	Chr16:70259167 [GRCh38] Chr16:70293070 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2595C>T (p.Gly865=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000693392]\|Inborn genetic diseases [RCV002462032]	Chr16:70253726 [GRCh38] Chr16:70287629 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1079C>G (p.Ala360Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000688889]\|Inborn genetic diseases [RCV002462023]	Chr16:70267802 [GRCh38] Chr16:70301705 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1785G>A (p.Glu595=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000705825]	Chr16:70261044 [GRCh38] Chr16:70294947 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.817-1G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000697803]\|Inborn genetic diseases [RCV002462037]	Chr16:70269764 [GRCh38] Chr16:70303667 [GRCh37] Chr16:16q22.1	likely pathogenic\|uncertain significance
NM_001605.3(AARS1):c.783C>G (p.Asp261Glu)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000999721]\|Charcot-Marie-Tooth disease type 2 [RCV000699191]\|Inborn genetic diseases [RCV002462041]\|not provided [RCV001592893]	Chr16:70270229 [GRCh38] Chr16:70304132 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.278A>G (p.Tyr93Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000685096]\|Inborn genetic diseases [RCV002544711]	Chr16:70277021 [GRCh38] Chr16:70310924 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1797A>T (p.Arg599Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000699712]	Chr16:70259175 [GRCh38] Chr16:70293078 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2027C>T (p.Ala676Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000699676]\|not provided [RCV004721562]	Chr16:70258183 [GRCh38] Chr16:70292086 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.601G>A (p.Ala201Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000685556]\|Inborn genetic diseases [RCV002462017]\|not provided [RCV004692076]	Chr16:70271851 [GRCh38] Chr16:70305754 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1618_1619dup (p.Gln541fs)	duplication	Charcot-Marie-Tooth disease type 2 [RCV000700148]	Chr16:70262397..70262398 [GRCh38] Chr16:70296300..70296301 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.1102C>T (p.Pro368Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000689500]\|not provided [RCV001700450]	Chr16:70267779 [GRCh38] Chr16:70301682 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2125G>A (p.Asp709Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000706527]	Chr16:70258085 [GRCh38] Chr16:70291988 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.580C>T (p.Arg194Trp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000694530]	Chr16:70271872 [GRCh38] Chr16:70305775 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.663G>C (p.Gln221His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000694664]	Chr16:70271789 [GRCh38] Chr16:70305692 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1545C>A (p.Phe515Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000692608]\|not provided [RCV001726304]	Chr16:70262472 [GRCh38] Chr16:70296375 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.295G>A (p.Glu99Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000704032]\|Inborn genetic diseases [RCV002462054]	Chr16:70277004 [GRCh38] Chr16:70310907 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.176C>T (p.Pro59Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000704455]\|Inborn genetic diseases [RCV002462055]\|See cases [RCV001199243]	Chr16:70277123 [GRCh38] Chr16:70311026 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1334G>T (p.Arg445Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000688251]	Chr16:70265551 [GRCh38] Chr16:70299454 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1894G>C (p.Asp632His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000693568]	Chr16:70259078 [GRCh38] Chr16:70292981 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1409T>A (p.Ile470Asn)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000999708]\|Charcot-Marie-Tooth disease type 2 [RCV000705097]	Chr16:70265041 [GRCh38] Chr16:70298944 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.935G>A (p.Gly312Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000695925]	Chr16:70269645 [GRCh38] Chr16:70303548 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2223G>A (p.Thr741=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000691470]\|Inborn genetic diseases [RCV002462027]	Chr16:70255791 [GRCh38] Chr16:70289694 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NC_000016.9:g.(?_70310369)_(70316686_?)dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV000708194]	Chr16:70276466..70282783 [GRCh38] Chr16:70310369..70316686 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2452A>G (p.Thr818Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000698678]	Chr16:70253987 [GRCh38] Chr16:70287890 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1493-172C>T	single nucleotide variant	not provided [RCV001546054]	Chr16:70262696 [GRCh38] Chr16:70296599 [GRCh37] Chr16:16q22.1	likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3	copy number gain	not provided [RCV000738918]	Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3	copy number gain	not provided [RCV000738915]	Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3	copy number gain	not provided [RCV000738917]	Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
NM_001605.3(AARS1):c.2119C>T (p.Leu707=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001426131]	Chr16:70258091 [GRCh38] Chr16:70291994 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.963-250T>C	single nucleotide variant	not provided [RCV001540614]	Chr16:70268629 [GRCh38] Chr16:70302532 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1492+215dup	duplication	not provided [RCV001541306]	Chr16:70264731..70264732 [GRCh38] Chr16:70298634..70298635 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.2817G>A (p.Gln939=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001446053]	Chr16:70252811 [GRCh38] Chr16:70286714 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2478G>A (p.Met826Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002241812]\|not provided [RCV001812400]	Chr16:70253961 [GRCh38] Chr16:70287864 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1071+195_1071+197del	deletion	not provided [RCV001564424]	Chr16:70268074..70268076 [GRCh38] Chr16:70301977..70301979 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.480-307G>A	single nucleotide variant	not provided [RCV001571914]	Chr16:70272279 [GRCh38] Chr16:70306182 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.480-68G>A	single nucleotide variant	not provided [RCV001534720]	Chr16:70272040 [GRCh38] Chr16:70305943 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.144+269dup	duplication	not provided [RCV001645296]	Chr16:70282331..70282332 [GRCh38] Chr16:70316234..70316235 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.1551A>G (p.Glu517=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001394066]	Chr16:70262466 [GRCh38] Chr16:70296369 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.-22+127G>A	single nucleotide variant	not provided [RCV001547372]	Chr16:70289294 [GRCh38] Chr16:70323197 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1492+215_1492+216dup	duplication	not provided [RCV001586384]	Chr16:70264731..70264732 [GRCh38] Chr16:70298634..70298635 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.976C>T (p.Arg326Trp)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001805843]\|Charcot-Marie-Tooth disease type 2 [RCV000809951]\|Inborn genetic diseases [RCV002462124]\|Peripheral neuropathy [RCV001731192]\|not provided [RCV000761940]	Chr16:70268366 [GRCh38] Chr16:70302269 [GRCh37] Chr16:16q22.1	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.962+1del	deletion	Charcot-Marie-Tooth disease type 2 [RCV001068179]	Chr16:70269617 [GRCh38] Chr16:70303520 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.887G>A (p.Arg296Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581921]\|Developmental and epileptic encephalopathy, 29 [RCV003315179]\|not provided [RCV004790535]	Chr16:70269693 [GRCh38] Chr16:70303596 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.144+289dup	duplication	not provided [RCV001577422]	Chr16:70282329..70282330 [GRCh38] Chr16:70316232..70316233 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.592C>T (p.Arg198Trp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001067102]	Chr16:70271860 [GRCh38] Chr16:70305763 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.-22+44G>T	single nucleotide variant	not provided [RCV001690788]	Chr16:70289377 [GRCh38] Chr16:70323280 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.430G>A (p.Ala144Thr)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001115374]\|Charcot-Marie-Tooth disease type 2 [RCV000866125]\|Inborn genetic diseases [RCV002462202]\|not provided [RCV001788376]	Chr16:70276535 [GRCh38] Chr16:70310438 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2174del (p.Gly725fs)	deletion	Charcot-Marie-Tooth disease, type I [RCV000857008]	Chr16:70258036 [GRCh38] Chr16:70291939 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.78T>A (p.Val26=)	single nucleotide variant	not provided [RCV000891704]	Chr16:70282686 [GRCh38] Chr16:70316589 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1008T>C (p.His336=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001483252]	Chr16:70268334 [GRCh38] Chr16:70302237 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1938C>G (p.Thr646=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000867695]	Chr16:70259034 [GRCh38] Chr16:70292937 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.18A>G (p.Thr6=)	single nucleotide variant	not provided [RCV000927541]	Chr16:70282746 [GRCh38] Chr16:70316649 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.429A>C (p.Ala143=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000864705]	Chr16:70276536 [GRCh38] Chr16:70310439 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1995C>T (p.Ala665=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000866894]\|not provided [RCV003424398]	Chr16:70258215 [GRCh38] Chr16:70292118 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.669C>T (p.Asn223=)	single nucleotide variant	not provided [RCV000921635]	Chr16:70271783 [GRCh38] Chr16:70305686 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2199T>C (p.His733=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001503596]	Chr16:70255815 [GRCh38] Chr16:70289718 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.229C>A (p.Arg77=)	single nucleotide variant	not provided [RCV000924066]	Chr16:70277070 [GRCh38] Chr16:70310973 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2286+7A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001422115]	Chr16:70255721 [GRCh38] Chr16:70289624 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1344C>T (p.Ala448=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001488337]	Chr16:70265541 [GRCh38] Chr16:70299444 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2706G>A (p.Leu902=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001399207]	Chr16:70253283 [GRCh38] Chr16:70287186 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2053G>A (p.Val685Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000948382]\|not provided [RCV002275174]	Chr16:70258157 [GRCh38] Chr16:70292060 [GRCh37] Chr16:16q22.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.2193G>C (p.Ser731=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001452927]	Chr16:70255821 [GRCh38] Chr16:70289724 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2592C>T (p.Ser864=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001118329]\|Charcot-Marie-Tooth disease type 2 [RCV001522066]	Chr16:70253729 [GRCh38] Chr16:70287632 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_001605.3(AARS1):c.145-3T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001041233]	Chr16:70277157 [GRCh38] Chr16:70311060 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.988C>T (p.Arg330Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236061]\|Developmental and epileptic encephalopathy, 29 [RCV000995471]	Chr16:70268354 [GRCh38] Chr16:70302257 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.2901G>C (p.Lys967Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001058908]\|Inborn genetic diseases [RCV002553852]	Chr16:70252727 [GRCh38] Chr16:70286630 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2092T>A (p.Ser698Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001042759]	Chr16:70258118 [GRCh38] Chr16:70292021 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.333G>A (p.Lys111=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000791749]	Chr16:70276966 [GRCh38] Chr16:70310869 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2562C>G (p.Asn854Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000793497]	Chr16:70253759 [GRCh38] Chr16:70287662 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1762C>T (p.Gln588Ter)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000779197]	Chr16:70261067 [GRCh38] Chr16:70294970 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.480-9C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000861387]	Chr16:70271981 [GRCh38] Chr16:70305884 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.540C>T (p.Asp180=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001394561]	Chr16:70271912 [GRCh38] Chr16:70305815 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1221C>T (p.Pro407=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001430014]\|Inborn genetic diseases [RCV004027856]	Chr16:70267660 [GRCh38] Chr16:70301563 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2776T>C (p.Leu926=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001452980]	Chr16:70252852 [GRCh38] Chr16:70286755 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.366C>T (p.Leu122=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001416529]	Chr16:70276599 [GRCh38] Chr16:70310502 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.342A>G (p.Ala114=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001440362]	Chr16:70276623 [GRCh38] Chr16:70310526 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1737C>G (p.Ile579Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000863429]\|Inborn genetic diseases [RCV002462199]\|not provided [RCV004705805]	Chr16:70261092 [GRCh38] Chr16:70294995 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2754G>A (p.Glu918=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001497038]	Chr16:70252874 [GRCh38] Chr16:70286777 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2607+8A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001403785]	Chr16:70253706 [GRCh38] Chr16:70287609 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2889C>T (p.Leu963=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001432844]	Chr16:70252739 [GRCh38] Chr16:70286642 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.597C>T (p.Asp199=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000862566]	Chr16:70271855 [GRCh38] Chr16:70305758 [GRCh37] Chr16:16q22.1	likely benign
GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1	copy number loss	See cases [RCV002285074]	Chr16:68971067..74823560 [GRCh37] Chr16:16q22.1-23.1	pathogenic
NM_001605.3(AARS1):c.1793G>A (p.Arg598Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581909]\|Inborn genetic diseases [RCV003276901]\|not provided [RCV003312103]	Chr16:70259179 [GRCh38] Chr16:70293082 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2466A>G (p.Leu822=)	single nucleotide variant	not provided [RCV000914813]	Chr16:70253973 [GRCh38] Chr16:70287876 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.479+246T>A	single nucleotide variant	not provided [RCV000831756]	Chr16:70276240 [GRCh38] Chr16:70310143 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.56A>G (p.Lys19Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000799210]	Chr16:70282708 [GRCh38] Chr16:70316611 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2287-95A>G	single nucleotide variant	not provided [RCV000835584]	Chr16:70254829 [GRCh38] Chr16:70288732 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.2096T>C (p.Ile699Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000810040]\|Trichothiodystrophy 8, nonphotosensitive [RCV001805882]	Chr16:70258114 [GRCh38] Chr16:70292017 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.963-51A>C	single nucleotide variant	not provided [RCV000832695]	Chr16:70268430 [GRCh38] Chr16:70302333 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.2324C>T (p.Ser775Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000814787]	Chr16:70254697 [GRCh38] Chr16:70288600 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.111dup (p.Thr38fs)	duplication	Charcot-Marie-Tooth disease type 2 [RCV000807609]	Chr16:70282652..70282653 [GRCh38] Chr16:70316555..70316556 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.2867C>T (p.Thr956Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000797692]	Chr16:70252761 [GRCh38] Chr16:70286664 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.10:g.(?_70264948)_(70282773_?)del	deletion	Charcot-Marie-Tooth disease type 2 [RCV000821277]	Chr16:70264948..70282773 [GRCh38] Chr16:70298851..70316676 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.962+165C>A	single nucleotide variant	not provided [RCV000836517]	Chr16:70269453 [GRCh38] Chr16:70303356 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.877A>G (p.Met293Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000819980]\|not provided [RCV003884742]	Chr16:70269703 [GRCh38] Chr16:70303606 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1347+40C>G	single nucleotide variant	not provided [RCV000835069]	Chr16:70265498 [GRCh38] Chr16:70299401 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.2607+43T>C	single nucleotide variant	not provided [RCV000835070]	Chr16:70253671 [GRCh38] Chr16:70287574 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.1138G>T (p.Val380Leu)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000857011]	Chr16:70267743 [GRCh38] Chr16:70301646 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.630T>C (p.Asn210=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002235488]	Chr16:70271822 [GRCh38] Chr16:70305725 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2457C>G (p.Leu819=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001426573]	Chr16:70253982 [GRCh38] Chr16:70287885 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.671+180G>C	single nucleotide variant	not provided [RCV000837254]	Chr16:70271601 [GRCh38] Chr16:70305504 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.1492+199T>C	single nucleotide variant	not provided [RCV000837256]	Chr16:70264759 [GRCh38] Chr16:70298662 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.1493-228C>T	single nucleotide variant	not provided [RCV000837257]	Chr16:70262752 [GRCh38] Chr16:70296655 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.1493-187T>C	single nucleotide variant	not provided [RCV000837258]	Chr16:70262711 [GRCh38] Chr16:70296614 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.1672-205G>C	single nucleotide variant	not provided [RCV000837259]	Chr16:70261362 [GRCh38] Chr16:70295265 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.1967delinsAGGTGATTGAGG (p.Ala656fs)	indel	Charcot-Marie-Tooth disease type 2 [RCV000792801]	Chr16:70259005 [GRCh38] Chr16:70292908 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.919G>A (p.Val307Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000809732]	Chr16:70269661 [GRCh38] Chr16:70303564 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2059G>A (p.Asp687Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000799191]	Chr16:70258151 [GRCh38] Chr16:70292054 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1261C>G (p.Pro421Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000810216]\|not provided [RCV003141819]	Chr16:70265624 [GRCh38] Chr16:70299527 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2603C>T (p.Ala868Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000806210]	Chr16:70253718 [GRCh38] Chr16:70287621 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1064A>G (p.Gln355Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000812985]	Chr16:70268278 [GRCh38] Chr16:70302181 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1347+21A>G	single nucleotide variant	not provided [RCV000835068]	Chr16:70265517 [GRCh38] Chr16:70299420 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.1420C>T (p.Arg474Trp)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000999709]\|Charcot-Marie-Tooth disease type 2 [RCV000823031]\|Inborn genetic diseases [RCV002535971]\|not provided [RCV003424364]	Chr16:70265030 [GRCh38] Chr16:70298933 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1223-144_1223-128del	deletion	not provided [RCV000835638]	Chr16:70265790..70265806 [GRCh38] Chr16:70299693..70299709 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.743T>C (p.Val248Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000800962]	Chr16:70270269 [GRCh38] Chr16:70304172 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2331G>A (p.Met777Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000797331]	Chr16:70254690 [GRCh38] Chr16:70288593 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1150A>C (p.Lys384Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000823905]	Chr16:70267731 [GRCh38] Chr16:70301634 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.144+304C>T	single nucleotide variant	not provided [RCV000832711]	Chr16:70282316 [GRCh38] Chr16:70316219 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.1492+304T>C	single nucleotide variant	not provided [RCV000832712]	Chr16:70264654 [GRCh38] Chr16:70298557 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.2401-283T>C	single nucleotide variant	not provided [RCV000832713]	Chr16:70254321 [GRCh38] Chr16:70288224 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.2084G>A (p.Arg695Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000798164]\|Inborn genetic diseases [RCV002462151]	Chr16:70258126 [GRCh38] Chr16:70292029 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.9:g.(?_70286614)_(70296437_?)dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV000803271]	Chr16:70252711..70262534 [GRCh38] Chr16:70286614..70296437 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2286+200_2286+201del	deletion	not provided [RCV000838641]	Chr16:70255527..70255528 [GRCh38] Chr16:70289430..70289431 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.155T>C (p.Ile52Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000795393]\|Inborn genetic diseases [RCV004027521]	Chr16:70277144 [GRCh38] Chr16:70311047 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.9:g.(?_70286614)_(70669268_?)dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV000813323]	Chr16:70252711..70635365 [GRCh38] Chr16:70286614..70669268 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.*32T>C	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001116880]	Chr16:70252689 [GRCh38] Chr16:70286592 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.9:g.(?_70310389)_(70316666_?)dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV000813336]	Chr16:70276486..70282763 [GRCh38] Chr16:70310389..70316666 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.304G>C (p.Gly102Arg)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001027508]\|Charcot-Marie-Tooth disease type 2 [RCV000807351]\|not provided [RCV003319426]	Chr16:70276995 [GRCh38] Chr16:70310898 [GRCh37] Chr16:16q22.1	pathogenic\|likely pathogenic\|uncertain significance
NM_001605.3(AARS1):c.886C>T (p.Arg296Trp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000799199]\|Inborn genetic diseases [RCV002538014]	Chr16:70269694 [GRCh38] Chr16:70303597 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.342A>C (p.Ala114=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001115375]\|Charcot-Marie-Tooth disease type 2 [RCV001456378]\|not provided [RCV000841300]	Chr16:70276623 [GRCh38] Chr16:70310526 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.966T>C (p.Tyr322=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000861385]\|not provided [RCV003489943]	Chr16:70268376 [GRCh38] Chr16:70302279 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1823C>T (p.Thr608Met)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000789721]\|Charcot-Marie-Tooth disease axonal type 2N [RCV002470981]\|Charcot-Marie-Tooth disease type 2 [RCV001362690]\|not provided [RCV001759481]\|not specified [RCV004782550]	Chr16:70259149 [GRCh38] Chr16:70293052 [GRCh37] Chr16:16q22.1	likely pathogenic\|uncertain significance
NM_001605.3(AARS1):c.1998_1999del (p.Thr668fs)	deletion	Charcot-Marie-Tooth disease type 2 [RCV000803092]	Chr16:70258211..70258212 [GRCh38] Chr16:70292114..70292115 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.726G>A (p.Met242Ile)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV003483724]\|Charcot-Marie-Tooth disease type 2 [RCV000792174]\|Inborn genetic diseases [RCV004965733]\|not provided [RCV003482305]	Chr16:70270286 [GRCh38] Chr16:70304189 [GRCh37] Chr16:16q22.1	uncertain significance\|not provided
NM_001605.3(AARS1):c.287C>T (p.Thr96Ile)	single nucleotide variant	Developmental and epileptic encephalopathy, 29 [RCV003315178]	Chr16:70277012 [GRCh38] Chr16:70310915 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.618G>A (p.Gln206=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001398356]	Chr16:70271834 [GRCh38] Chr16:70305737 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.744A>G (p.Val248=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000861956]	Chr16:70270268 [GRCh38] Chr16:70304171 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.817-158CT[2]	microsatellite	not provided [RCV000837255]	Chr16:70269916..70269917 [GRCh38] Chr16:70303819..70303820 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.739C>A (p.Leu247Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000797793]	Chr16:70270273 [GRCh38] Chr16:70304176 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2535G>A (p.Thr845=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000871593]	Chr16:70253786 [GRCh38] Chr16:70287689 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.778A>G (p.Thr260Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000823806]\|Developmental and epileptic encephalopathy, 29 [RCV001509583]	Chr16:70270234 [GRCh38] Chr16:70304137 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.1223-256G>A	single nucleotide variant	not provided [RCV000832764]	Chr16:70265918 [GRCh38] Chr16:70299821 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1785+257G>A	single nucleotide variant	not provided [RCV000832765]	Chr16:70260787 [GRCh38] Chr16:70294690 [GRCh37] Chr16:16q22.1	likely benign
GRCh37/hg19 16q22.1-22.2(chr16:70277618-70917102)x4	copy number gain	not provided [RCV000845716]	Chr16:70277618..70917102 [GRCh37] Chr16:16q22.1-22.2	uncertain significance
NM_001605.3(AARS1):c.1656T>C (p.Asp552=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001115277]\|Charcot-Marie-Tooth disease type 2 [RCV001518154]	Chr16:70262361 [GRCh38] Chr16:70296264 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_001605.3(AARS1):c.488A>G (p.Asp163Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002536212]\|Distal spinal muscular atrophy [RCV000857014]	Chr16:70271964 [GRCh38] Chr16:70305867 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.205G>C (p.Ala69Pro)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000857015]	Chr16:70277094 [GRCh38] Chr16:70310997 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.618G>T (p.Gln206His)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV000850375]\|Charcot-Marie-Tooth disease type 2 [RCV002234890]\|Inborn genetic diseases [RCV004601295]	Chr16:70271834 [GRCh38] Chr16:70305737 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1027A>G (p.Arg343Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001230632]	Chr16:70268315 [GRCh38] Chr16:70302218 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.443C>T (p.Ala148Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001222641]	Chr16:70276522 [GRCh38] Chr16:70310425 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.848T>C (p.Val283Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001221242]	Chr16:70269732 [GRCh38] Chr16:70303635 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1492G>T (p.Val498Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001221106]	Chr16:70264958 [GRCh38] Chr16:70298861 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2222C>A (p.Thr741Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001201460]	Chr16:70255792 [GRCh38] Chr16:70289695 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2505C>T (p.Ala835=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236062]\|not provided [RCV000996296]	Chr16:70253934 [GRCh38] Chr16:70287837 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2248C>G (p.Arg750Gly)	single nucleotide variant	not provided [RCV000996297]	Chr16:70255766 [GRCh38] Chr16:70289669 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1997T>C (p.Val666Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236063]\|Developmental and epileptic encephalopathy, 29 [RCV001523784]\|not provided [RCV000996298]	Chr16:70258213 [GRCh38] Chr16:70292116 [GRCh37] Chr16:16q22.1	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001605.3(AARS1):c.835T>C (p.Tyr279His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001217225]\|not provided [RCV000996299]	Chr16:70269745 [GRCh38] Chr16:70303648 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q22.1(chr16:70305684-70316666)x1	copy number loss	not provided [RCV000996432]	Chr16:70305684..70316666 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.501C>T (p.Leu167=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001115373]\|Charcot-Marie-Tooth disease type 2 [RCV003769147]	Chr16:70271951 [GRCh38] Chr16:70305854 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001118437]\|Charcot-Marie-Tooth disease type 2 [RCV001349997]\|Inborn genetic diseases [RCV002462330]	Chr16:70265075 [GRCh38] Chr16:70298978 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.836A>G (p.Tyr279Cys)	single nucleotide variant	See cases [RCV001199310]	Chr16:70269744 [GRCh38] Chr16:70303647 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.*141A>G	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001116878]	Chr16:70252580 [GRCh38] Chr16:70286483 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.1041T>C (p.Ala347=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003104243]	Chr16:70268301 [GRCh38] Chr16:70302204 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1815C>G (p.His605Gln)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV003231055]	Chr16:70259157 [GRCh38] Chr16:70293060 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_001605.3(AARS1):c.479+196T>A	single nucleotide variant	not provided [RCV001550371]	Chr16:70276290 [GRCh38] Chr16:70310193 [GRCh37] Chr16:16q22.1	likely benign
NC_000016.9:g.(?_70294927)_(70311077_?)del	deletion	Charcot-Marie-Tooth disease type 2 [RCV003107438]	Chr16:70294927..70311077 [GRCh37] Chr16:16q22.1	pathogenic
NC_000016.9:g.(?_70310369)_(70311077_?)del	deletion	Charcot-Marie-Tooth disease type 2 [RCV003107439]	Chr16:70310369..70311077 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.9:g.(?_70286624)_(70305895_?)del	deletion	Charcot-Marie-Tooth disease type 2 [RCV003107440]	Chr16:70286624..70305895 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.2552G>C (p.Ser851Thr)	single nucleotide variant	not provided [RCV001577388]	Chr16:70253769 [GRCh38] Chr16:70287672 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2286+174A>G	single nucleotide variant	not provided [RCV001551556]	Chr16:70255554 [GRCh38] Chr16:70289457 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.144+21C>A	single nucleotide variant	not provided [RCV001561827]	Chr16:70282599 [GRCh38] Chr16:70316502 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.671+269C>G	single nucleotide variant	not provided [RCV001562384]	Chr16:70271512 [GRCh38] Chr16:70305415 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.671+78C>T	single nucleotide variant	not provided [RCV001565405]	Chr16:70271703 [GRCh38] Chr16:70305606 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.816+203dup	duplication	not provided [RCV001548594]	Chr16:70269983..70269984 [GRCh38] Chr16:70303886..70303887 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1672-24G>C	single nucleotide variant	not provided [RCV001551918]	Chr16:70261181 [GRCh38] Chr16:70295084 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.333+125G>A	single nucleotide variant	not provided [RCV001558932]	Chr16:70276841 [GRCh38] Chr16:70310744 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2622C>T (p.Ala874=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001430142]	Chr16:70253367 [GRCh38] Chr16:70287270 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.128A>G (p.Asn43Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000873078]	Chr16:70282636 [GRCh38] Chr16:70316539 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.773A>G (p.Tyr258Cys)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000857012]\|Charcot-Marie-Tooth disease type 2 [RCV001247236]	Chr16:70270239 [GRCh38] Chr16:70304142 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.660C>G (p.Ile220Met)	single nucleotide variant	Charcot-Marie-Tooth disease, type I [RCV000857013]	Chr16:70271792 [GRCh38] Chr16:70305695 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2730C>T (p.Ala910=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001118327]\|Charcot-Marie-Tooth disease type 2 [RCV001477680]	Chr16:70252898 [GRCh38] Chr16:70286801 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1671+7C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000874674]	Chr16:70262339 [GRCh38] Chr16:70296242 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1493-10C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000872392]	Chr16:70262534 [GRCh38] Chr16:70296437 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2412T>C (p.Thr804=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV000874900]	Chr16:70254027 [GRCh38] Chr16:70287930 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.360A>G (p.Glu120=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001436723]	Chr16:70276605 [GRCh38] Chr16:70310508 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.270G>A (p.Lys90=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001437587]\|not specified [RCV004586965]	Chr16:70277029 [GRCh38] Chr16:70310932 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.208G>C (p.Ala70Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001242053]	Chr16:70277091 [GRCh38] Chr16:70310994 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1546G>A (p.Val516Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001218745]\|Inborn genetic diseases [RCV002462840]\|not provided [RCV004726987]	Chr16:70262471 [GRCh38] Chr16:70296374 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.686T>C (p.Ile229Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001071670]	Chr16:70270326 [GRCh38] Chr16:70304229 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2521-4_2521-3delinsAA	indel	Charcot-Marie-Tooth disease type 2 [RCV001236194]	Chr16:70253803..70253804 [GRCh38] Chr16:70287706..70287707 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1537A>C (p.Lys513Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001244918]\|Inborn genetic diseases [RCV004034810]\|not specified [RCV003331088]	Chr16:70262480 [GRCh38] Chr16:70296383 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1012A>G (p.Lys338Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001050395]	Chr16:70268330 [GRCh38] Chr16:70302233 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.664T>A (p.Tyr222Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001227436]	Chr16:70271788 [GRCh38] Chr16:70305691 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2218G>A (p.Val740Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001208640]\|Inborn genetic diseases [RCV002462825]	Chr16:70255796 [GRCh38] Chr16:70289699 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1284T>A (p.Ile428=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001066170]	Chr16:70265601 [GRCh38] Chr16:70299504 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.521A>G (p.Asn174Ser)	single nucleotide variant	Inborn genetic diseases [RCV002462326]\|not provided [RCV001090444]	Chr16:70271931 [GRCh38] Chr16:70305834 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.*131G>A	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001116879]	Chr16:70252590 [GRCh38] Chr16:70286493 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1786-5T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001237719]\|Inborn genetic diseases [RCV002567913]	Chr16:70259191 [GRCh38] Chr16:70293094 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.83C>T (p.Ser28Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001221636]\|Inborn genetic diseases [RCV002563022]	Chr16:70282681 [GRCh38] Chr16:70316584 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1676C>T (p.Thr559Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001228019]	Chr16:70261153 [GRCh38] Chr16:70295056 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.670A>G (p.Arg224Gly)	single nucleotide variant	not provided [RCV004814550]	Chr16:70271782 [GRCh38] Chr16:70305685 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1785+293G>T	single nucleotide variant	not provided [RCV001562568]	Chr16:70260751 [GRCh38] Chr16:70294654 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.-21-279G>A	single nucleotide variant	not provided [RCV001562839]	Chr16:70283063 [GRCh38] Chr16:70316966 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1493-168C>T	single nucleotide variant	not provided [RCV001558556]	Chr16:70262692 [GRCh38] Chr16:70296595 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.145-295C>T	single nucleotide variant	not provided [RCV001555119]	Chr16:70277449 [GRCh38] Chr16:70311352 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.480-70C>G	single nucleotide variant	not provided [RCV001566949]	Chr16:70272042 [GRCh38] Chr16:70305945 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2722-133_2722-132del	deletion	not provided [RCV001591965]	Chr16:70253038..70253039 [GRCh38] Chr16:70286941..70286942 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.-22+198G>A	single nucleotide variant	not provided [RCV001654758]	Chr16:70289223 [GRCh38] Chr16:70323126 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.1672-33T>G	single nucleotide variant	not provided [RCV001545663]	Chr16:70261190 [GRCh38] Chr16:70295093 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1672-100T>C	single nucleotide variant	not provided [RCV001587586]	Chr16:70261257 [GRCh38] Chr16:70295160 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1992+181del	deletion	not provided [RCV001581650]	Chr16:70258799 [GRCh38] Chr16:70292702 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1992+189C>T	single nucleotide variant	not provided [RCV001592491]	Chr16:70258791 [GRCh38] Chr16:70292694 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1007A>G (p.His336Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001070788]\|Developmental and epileptic encephalopathy, 29 [RCV004731088]	Chr16:70268335 [GRCh38] Chr16:70302238 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2069A>C (p.Tyr690Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001049373]	Chr16:70258141 [GRCh38] Chr16:70292044 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000999702]\|Charcot-Marie-Tooth disease axonal type 2N [RCV001119959]\|Charcot-Marie-Tooth disease type 2 [RCV002236009]\|Inborn genetic diseases [RCV002462252]\|not provided [RCV004597945]	Chr16:70268299 [GRCh38] Chr16:70302202 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1208G>C (p.Ser403Thr)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000999704]	Chr16:70267673 [GRCh38] Chr16:70301576 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.72G>A (p.Thr24=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000999720]\|Charcot-Marie-Tooth disease type 2 [RCV002236011]	Chr16:70282692 [GRCh38] Chr16:70316595 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.641T>G (p.Ile214Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001044937]	Chr16:70271811 [GRCh38] Chr16:70305714 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2019G>C (p.Leu673=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001121848]\|Charcot-Marie-Tooth disease type 2 [RCV005056907]	Chr16:70258191 [GRCh38] Chr16:70292094 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.946G>T (p.Asp316Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001121947]	Chr16:70269634 [GRCh38] Chr16:70303537 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.828C>G (p.Ala276=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001121948]\|Charcot-Marie-Tooth disease type 2 [RCV003744731]	Chr16:70269752 [GRCh38] Chr16:70303655 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1992+139A>G	single nucleotide variant	not provided [RCV001616652]	Chr16:70258841 [GRCh38] Chr16:70292744 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.1110G>C (p.Met370Ile)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001119957]\|Charcot-Marie-Tooth disease type 2 [RCV002240653]	Chr16:70267771 [GRCh38] Chr16:70301674 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1071+135G>T	single nucleotide variant	not provided [RCV001670899]	Chr16:70268136 [GRCh38] Chr16:70302039 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.962+103G>A	single nucleotide variant	not provided [RCV001695436]	Chr16:70269515 [GRCh38] Chr16:70303418 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.1388T>C (p.Ile463Thr)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000999707]\|Charcot-Marie-Tooth disease type 2 [RCV002236010]	Chr16:70265062 [GRCh38] Chr16:70298965 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.10:g.(?_70267649)_(70268389_?)del	deletion	Charcot-Marie-Tooth disease type 2 [RCV001032975]	Chr16:70301552..70302292 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.10:g.(?_70267649)_(70271982_?)del	deletion	Charcot-Marie-Tooth disease type 2 [RCV001033178]	Chr16:70301552..70305885 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1075G>A (p.Asp359Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001071518]\|Inborn genetic diseases [RCV002462324]	Chr16:70267806 [GRCh38] Chr16:70301709 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1223-90C>T	single nucleotide variant	not provided [RCV001586573]	Chr16:70265752 [GRCh38] Chr16:70299655 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1426C>T (p.Arg476Trp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001050140]	Chr16:70265024 [GRCh38] Chr16:70298927 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.615C>G (p.Asn205Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001050262]	Chr16:70271837 [GRCh38] Chr16:70305740 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.479+195C>A	single nucleotide variant	not provided [RCV001587771]	Chr16:70276291 [GRCh38] Chr16:70310194 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.926T>C (p.Leu309Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001072023]	Chr16:70269654 [GRCh38] Chr16:70303557 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.145-123A>C	single nucleotide variant	not provided [RCV001587065]	Chr16:70277277 [GRCh38] Chr16:70311180 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1065G>T (p.Gln355His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001048953]	Chr16:70268277 [GRCh38] Chr16:70302180 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2567C>T (p.Pro856Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001207385]	Chr16:70253754 [GRCh38] Chr16:70287657 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2306G>C (p.Ser769Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001219718]	Chr16:70254715 [GRCh38] Chr16:70288618 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2481T>A (p.Asp827Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001234715]	Chr16:70253958 [GRCh38] Chr16:70287861 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2879A>C (p.Gln960Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001217796]	Chr16:70252749 [GRCh38] Chr16:70286652 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2819C>T (p.Ala940Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001230038]	Chr16:70252809 [GRCh38] Chr16:70286712 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.80A>G (p.His27Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001234709]\|Inborn genetic diseases [RCV004033254]\|not provided [RCV003142199]	Chr16:70282684 [GRCh38] Chr16:70316587 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1059C>T (p.Val353=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001119958]\|Charcot-Marie-Tooth disease type 2 [RCV002556565]	Chr16:70268283 [GRCh38] Chr16:70302186 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.58A>G (p.Arg20Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001056690]\|Inborn genetic diseases [RCV002462296]	Chr16:70282706 [GRCh38] Chr16:70316609 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1840G>T (p.Ala614Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001206545]	Chr16:70259132 [GRCh38] Chr16:70293035 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1429G>A (p.Gly477Ser)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000999710]\|Charcot-Marie-Tooth disease type 2 [RCV002549129]	Chr16:70265021 [GRCh38] Chr16:70298924 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2548G>A (p.Asp850Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001036699]\|Inborn genetic diseases [RCV003283876]	Chr16:70253773 [GRCh38] Chr16:70287676 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2569C>G (p.Leu857Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001039407]	Chr16:70253752 [GRCh38] Chr16:70287655 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2260G>A (p.Ala754Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001057588]	Chr16:70255754 [GRCh38] Chr16:70289657 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.736C>T (p.Arg246Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001216699]\|not provided [RCV001587235]	Chr16:70270276 [GRCh38] Chr16:70304179 [GRCh37] Chr16:16q22.1	pathogenic\|likely pathogenic\|uncertain significance
NM_001605.3(AARS1):c.2849A>T (p.Glu950Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001220503]	Chr16:70252779 [GRCh38] Chr16:70286682 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1912T>A (p.Phe638Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001058225]	Chr16:70259060 [GRCh38] Chr16:70292963 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1847G>A (p.Arg616His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001231871]	Chr16:70259125 [GRCh38] Chr16:70293028 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2681A>G (p.Asn894Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001216026]\|Inborn genetic diseases [RCV002462835]	Chr16:70253308 [GRCh38] Chr16:70287211 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1679_1680del (p.Glu560fs)	microsatellite	Charcot-Marie-Tooth disease type 2 [RCV001206722]	Chr16:70261149..70261150 [GRCh38] Chr16:70295052..70295053 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.2435A>G (p.Lys812Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001054445]	Chr16:70254004 [GRCh38] Chr16:70287907 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001115278]\|Charcot-Marie-Tooth disease type 2 [RCV003581773]	Chr16:70262384 [GRCh38] Chr16:70296287 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.339G>C (p.Leu113Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001052010]	Chr16:70276626 [GRCh38] Chr16:70310529 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2335G>A (p.Ala779Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001235417]\|Inborn genetic diseases [RCV002462859]	Chr16:70254686 [GRCh38] Chr16:70288589 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2285A>G (p.Lys762Arg)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001330614]\|Charcot-Marie-Tooth disease type 2 [RCV001218536]	Chr16:70255729 [GRCh38] Chr16:70289632 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2113G>A (p.Glu705Lys)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001121847]	Chr16:70258097 [GRCh38] Chr16:70292000 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1171C>T (p.Arg391Cys)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV002468625]\|Charcot-Marie-Tooth disease type 2 [RCV001228542]	Chr16:70267710 [GRCh38] Chr16:70301613 [GRCh37] Chr16:16q22.1	likely pathogenic\|uncertain significance
NM_001605.3(AARS1):c.1222+5_1222+7delinsTTTTTGC	indel	Charcot-Marie-Tooth disease type 2 [RCV001246125]\|not specified [RCV004699234]	Chr16:70267652..70267654 [GRCh38] Chr16:70301555..70301557 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1735A>T (p.Ile579Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001214431]	Chr16:70261094 [GRCh38] Chr16:70294997 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	copy number gain	not provided [RCV001249359]	Chr16:61524229..90155062 [GRCh37] Chr16:16q21-24.3	not provided
NM_001605.3(AARS1):c.2629C>G (p.Leu877Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001064410]	Chr16:70253360 [GRCh38] Chr16:70287263 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2235dup (p.Ala746fs)	duplication	not provided [RCV001008408]	Chr16:70255778..70255779 [GRCh38] Chr16:70289681..70289682 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_001605.3(AARS1):c.998G>A (p.Arg333Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001051645]	Chr16:70268344 [GRCh38] Chr16:70302247 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1060G>T (p.Val354Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001233546]	Chr16:70268282 [GRCh38] Chr16:70302185 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.503C>T (p.Pro168Leu)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000999719]\|Charcot-Marie-Tooth disease type 2 [RCV001049452]	Chr16:70271949 [GRCh38] Chr16:70305852 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1285G>A (p.Ala429Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001063117]	Chr16:70265600 [GRCh38] Chr16:70299503 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2048G>A (p.Arg683Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001212100]\|Inborn genetic diseases [RCV002462829]\|not provided [RCV002281169]	Chr16:70258162 [GRCh38] Chr16:70292065 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.751C>T (p.Leu251=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001492239]\|not provided [RCV003433095]	Chr16:70270261 [GRCh38] Chr16:70304164 [GRCh37] Chr16:16q22.1	likely benign
GRCh37/hg19 16q22.1(chr16:70185757-70416579)x3	copy number gain	Abnormal peripheral nervous system morphology [RCV001255182]	Chr16:70185757..70416579 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.400T>C (p.Tyr134His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001324699]	Chr16:70276565 [GRCh38] Chr16:70310468 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.9:g.(?_70286200)_(70296428_70298860)dup	duplication	not specified [RCV004783315]	Chr16:70286200..70296428 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.997C>T (p.Arg333Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002537705]\|not provided [RCV001268081]	Chr16:70268345 [GRCh38] Chr16:70302248 [GRCh37] Chr16:16q22.1	pathogenic\|likely pathogenic\|uncertain significance
NM_001605.3(AARS1):c.35A>G (p.Gln12Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744790]\|Inborn genetic diseases [RCV001265887]	Chr16:70282729 [GRCh38] Chr16:70316632 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1076A>G (p.Asp359Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001295840]	Chr16:70267805 [GRCh38] Chr16:70301708 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1640A>G (p.Tyr547Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001338062]	Chr16:70262377 [GRCh38] Chr16:70296280 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.169A>G (p.Ile57Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001319104]\|not provided [RCV003426043]	Chr16:70277130 [GRCh38] Chr16:70311033 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1301T>A (p.Leu434Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001339931]	Chr16:70265584 [GRCh38] Chr16:70299487 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1406C>T (p.Ala469Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001295838]\|not provided [RCV005005141]	Chr16:70265044 [GRCh38] Chr16:70298947 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2665C>T (p.Leu889Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001296680]\|not provided [RCV003405510]	Chr16:70253324 [GRCh38] Chr16:70287227 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1936A>G (p.Thr646Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001303409]	Chr16:70259036 [GRCh38] Chr16:70292939 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.133G>A (p.Gly45Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001305949]	Chr16:70282631 [GRCh38] Chr16:70316534 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.74A>G (p.Tyr25Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002546399]\|Developmental and epileptic encephalopathy, 29 [RCV001330615]\|not provided [RCV001773664]	Chr16:70282690 [GRCh38] Chr16:70316593 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.621C>G (p.Asp207Glu)	single nucleotide variant	AARS1-related disorder [RCV003399108]\|Charcot-Marie-Tooth disease type 2 [RCV001325674]\|Trichothiodystrophy 8, nonphotosensitive [RCV004762089]	Chr16:70271831 [GRCh38] Chr16:70305734 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.9:g.(?_70286614)_(70669268_?)dup	duplication	Charcot-Marie-Tooth disease, type 2 [RCV001304386]	Chr16:70286614..70669268 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1410C>G (p.Ile470Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001318610]	Chr16:70265040 [GRCh38] Chr16:70298943 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2738G>T (p.Gly913Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001318067]	Chr16:70252890 [GRCh38] Chr16:70286793 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1942C>T (p.Gln648Ter)	single nucleotide variant	Charcot-Marie-Tooth disease, type 2N [RCV001334935]	Chr16:70259030 [GRCh38] Chr16:70292933 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.1348C>G (p.Leu450Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001352046]	Chr16:70265102 [GRCh38] Chr16:70299005 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.639G>A (p.Glu213=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001397671]	Chr16:70271813 [GRCh38] Chr16:70305716 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.907C>T (p.Arg303Trp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001297711]\|not provided [RCV001810637]	Chr16:70269673 [GRCh38] Chr16:70303576 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.525C>T (p.Phe175=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001397041]	Chr16:70271927 [GRCh38] Chr16:70305830 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1819G>A (p.Ala607Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001359571]	Chr16:70259153 [GRCh38] Chr16:70293056 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1044G>A (p.Thr348=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001392223]	Chr16:70268298 [GRCh38] Chr16:70302201 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1395G>A (p.Leu465=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001434002]	Chr16:70265055 [GRCh38] Chr16:70298958 [GRCh37] Chr16:16q22.1	likely benign
NC_000016.9:g.(?_70298851)_(70316676_?)del	deletion	Charcot-Marie-Tooth disease, type 2 [RCV001313754]	Chr16:70298851..70316676 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1444G>T (p.Asp482Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001334934]	Chr16:70265006 [GRCh38] Chr16:70298909 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.113C>T (p.Thr38Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001324578]\|Inborn genetic diseases [RCV003166899]	Chr16:70282651 [GRCh38] Chr16:70316554 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2770T>G (p.Ser924Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001360832]\|not provided [RCV002290694]	Chr16:70252858 [GRCh38] Chr16:70286761 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.624C>G (p.Asp208Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001346541]	Chr16:70271828 [GRCh38] Chr16:70305731 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2630T>C (p.Leu877Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001360216]	Chr16:70253359 [GRCh38] Chr16:70287262 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1055T>G (p.Val352Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001351843]	Chr16:70268287 [GRCh38] Chr16:70302190 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV002493889]\|Charcot-Marie-Tooth disease type 2 [RCV001371421]	Chr16:70259003 [GRCh38] Chr16:70292906 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.11C>T (p.Thr4Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001306581]	Chr16:70282753 [GRCh38] Chr16:70316656 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.493A>G (p.Lys165Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001360654]	Chr16:70271959 [GRCh38] Chr16:70305862 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2460A>T (p.Lys820Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001299236]	Chr16:70253979 [GRCh38] Chr16:70287882 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.907C>G (p.Arg303Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001309733]	Chr16:70269673 [GRCh38] Chr16:70303576 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.887G>C (p.Arg296Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001320291]	Chr16:70269693 [GRCh38] Chr16:70303596 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1606G>T (p.Ala536Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001303899]\|not provided [RCV004774387]	Chr16:70262411 [GRCh38] Chr16:70296314 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1604A>G (p.Tyr535Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001346012]\|not provided [RCV003136010]	Chr16:70262413 [GRCh38] Chr16:70296316 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2741del (p.Gly913_Leu914insTer)	deletion	Charcot-Marie-Tooth disease type 2 [RCV001345097]	Chr16:70252887 [GRCh38] Chr16:70286790 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.938G>A (p.Gly313Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001350479]	Chr16:70269642 [GRCh38] Chr16:70303545 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1741G>A (p.Gly581Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001340068]\|Developmental and epileptic encephalopathy, 29 [RCV001509586]	Chr16:70261088 [GRCh38] Chr16:70294991 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NC_000016.9:g.(?_70286614)_(70296437_?)dup	duplication	Charcot-Marie-Tooth disease, type 2 [RCV001319325]	Chr16:70286614..70296437 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1504A>G (p.Thr502Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001323475]	Chr16:70262513 [GRCh38] Chr16:70296416 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.333+3A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001370438]\|Inborn genetic diseases [RCV002550104]	Chr16:70276963 [GRCh38] Chr16:70310866 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.170T>C (p.Ile57Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001322457]	Chr16:70277129 [GRCh38] Chr16:70311032 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1943A>G (p.Gln648Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001363584]	Chr16:70259029 [GRCh38] Chr16:70292932 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1169G>A (p.Arg390His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001363648]	Chr16:70267712 [GRCh38] Chr16:70301615 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2395G>A (p.Gly799Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001299730]	Chr16:70254626 [GRCh38] Chr16:70288529 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.70A>C (p.Thr24Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001341710]\|Inborn genetic diseases [RCV002546939]\|not provided [RCV003416235]	Chr16:70282694 [GRCh38] Chr16:70316597 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.289TTC[1] (p.Phe98del)	microsatellite	Charcot-Marie-Tooth disease type 2 [RCV001346284]	Chr16:70277005..70277007 [GRCh38] Chr16:70310908..70310910 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1799C>A (p.Pro600His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001296094]	Chr16:70259173 [GRCh38] Chr16:70293076 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.236G>C (p.Gly79Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001325653]	Chr16:70277063 [GRCh38] Chr16:70310966 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.651del (p.Val218fs)	deletion	Charcot-Marie-Tooth disease type 2 [RCV001340895]	Chr16:70271801 [GRCh38] Chr16:70305704 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.334-10C>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001422050]	Chr16:70276641 [GRCh38] Chr16:70310544 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2722-2A>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001371686]	Chr16:70252908 [GRCh38] Chr16:70286811 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1083T>C (p.Phe361=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001494373]	Chr16:70267798 [GRCh38] Chr16:70301701 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2082G>A (p.Val694=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001395732]	Chr16:70258128 [GRCh38] Chr16:70292031 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2662A>C (p.Met888Leu)	single nucleotide variant	not provided [RCV001508412]	Chr16:70253327 [GRCh38] Chr16:70287230 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.909G>T (p.Arg303=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001453495]	Chr16:70269671 [GRCh38] Chr16:70303574 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.153C>T (p.Pro51=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001424569]	Chr16:70277146 [GRCh38] Chr16:70311049 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.549C>G (p.Pro183=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001451097]	Chr16:70271903 [GRCh38] Chr16:70305806 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1578A>G (p.Gly526=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001435618]	Chr16:70262439 [GRCh38] Chr16:70296342 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.288C>T (p.Thr96=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001454142]	Chr16:70277011 [GRCh38] Chr16:70310914 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1722A>G (p.Leu574=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001461638]	Chr16:70261107 [GRCh38] Chr16:70295010 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1348-9T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001470993]\|not specified [RCV005057427]	Chr16:70265111 [GRCh38] Chr16:70299014 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1492+302C>A	single nucleotide variant	not provided [RCV001538146]	Chr16:70264656 [GRCh38] Chr16:70298559 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1223-291G>A	single nucleotide variant	not provided [RCV001536222]	Chr16:70265953 [GRCh38] Chr16:70299856 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.2103C>A (p.Val701=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001456099]	Chr16:70258107 [GRCh38] Chr16:70292010 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2017C>T (p.Leu673=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001463430]	Chr16:70258193 [GRCh38] Chr16:70292096 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2391C>T (p.Asp797=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001489504]	Chr16:70254630 [GRCh38] Chr16:70288533 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.864C>T (p.Ala288=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001506214]	Chr16:70269716 [GRCh38] Chr16:70303619 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.651T>C (p.Leu217=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001398918]	Chr16:70271801 [GRCh38] Chr16:70305704 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2715T>A (p.Val905=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001406923]	Chr16:70253274 [GRCh38] Chr16:70287177 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.161T>C (p.Leu54Pro)	single nucleotide variant	Developmental and epileptic encephalopathy, 29 [RCV002251007]	Chr16:70277138 [GRCh38] Chr16:70311041 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1140G>A (p.Val380=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001446530]	Chr16:70267741 [GRCh38] Chr16:70301644 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1860G>C (p.Gly620=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001427983]	Chr16:70259112 [GRCh38] Chr16:70293015 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2178-7C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001426649]	Chr16:70255843 [GRCh38] Chr16:70289746 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.736C>A (p.Arg246=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001405436]	Chr16:70270276 [GRCh38] Chr16:70304179 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2403C>G (p.Ala801=)	single nucleotide variant	AARS1-related disorder [RCV004751985]\|Charcot-Marie-Tooth disease type 2 [RCV001444768]	Chr16:70254036 [GRCh38] Chr16:70287939 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1993-9G>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001445171]	Chr16:70258226 [GRCh38] Chr16:70292129 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.837C>T (p.Tyr279=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001419246]	Chr16:70269743 [GRCh38] Chr16:70303646 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2177+130A>G	single nucleotide variant	not provided [RCV001534783]	Chr16:70257903 [GRCh38] Chr16:70291806 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2004C>T (p.Thr668=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001432333]	Chr16:70258206 [GRCh38] Chr16:70292109 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1992+83_1992+84del	microsatellite	not provided [RCV001655295]\|not specified [RCV004598082]	Chr16:70258896..70258897 [GRCh38] Chr16:70292799..70292800 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.774T>C (p.Tyr258=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001489979]	Chr16:70270238 [GRCh38] Chr16:70304141 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.562_563inv (p.Ser188Leu)	inversion	Developmental and epileptic encephalopathy, 29 [RCV001509584]	Chr16:70271889..70271890 [GRCh38] Chr16:70305792..70305793 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.2358T>C (p.Ala786=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001495921]	Chr16:70254663 [GRCh38] Chr16:70288566 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1071+140C>A	single nucleotide variant	not provided [RCV001619612]	Chr16:70268131 [GRCh38] Chr16:70302034 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.-22+30C>T	single nucleotide variant	not provided [RCV001651721]	Chr16:70289391 [GRCh38] Chr16:70323294 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.1223-33dup	duplication	not provided [RCV001715561]	Chr16:70265687..70265688 [GRCh38] Chr16:70299590..70299591 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.336A>G (p.Glu112=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001498312]	Chr16:70276629 [GRCh38] Chr16:70310532 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2307C>T (p.Ser769=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001490068]	Chr16:70254714 [GRCh38] Chr16:70288617 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1956T>G (p.Ala652=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001431386]	Chr16:70259016 [GRCh38] Chr16:70292919 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.296A>G (p.Glu99Gly)	single nucleotide variant	Developmental and epileptic encephalopathy, 29 [RCV001509582]	Chr16:70277003 [GRCh38] Chr16:70310906 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.1574G>A (p.Cys525Tyr)	single nucleotide variant	Developmental and epileptic encephalopathy, 29 [RCV001509585]	Chr16:70262443 [GRCh38] Chr16:70296346 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_001605.3(AARS1):c.543G>A (p.Thr181=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001467240]\|not provided [RCV004704588]	Chr16:70271909 [GRCh38] Chr16:70305812 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.498C>T (p.Ile166=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001467730]	Chr16:70271954 [GRCh38] Chr16:70305857 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2182C>T (p.Leu728=)	single nucleotide variant	AARS1-related disorder [RCV003953721]\|Charcot-Marie-Tooth disease type 2 [RCV001400113]	Chr16:70255832 [GRCh38] Chr16:70289735 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1272G>A (p.Leu424=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001451985]	Chr16:70265613 [GRCh38] Chr16:70299516 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1347+10T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001483918]	Chr16:70265528 [GRCh38] Chr16:70299431 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1488C>T (p.Ser496=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001416756]	Chr16:70264962 [GRCh38] Chr16:70298865 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.120C>T (p.Leu40=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001466898]	Chr16:70282644 [GRCh38] Chr16:70316547 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2414C>T (p.Ala805Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236821]	Chr16:70254025 [GRCh38] Chr16:70287928 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2375A>G (p.Gln792Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236827]	Chr16:70254646 [GRCh38] Chr16:70288549 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2354C>G (p.Thr785Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236830]	Chr16:70254667 [GRCh38] Chr16:70288570 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2287-13T>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236836]	Chr16:70254747 [GRCh38] Chr16:70288650 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.2178-14G>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236845]	Chr16:70255850 [GRCh38] Chr16:70289753 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1992+11C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236860]	Chr16:70258969 [GRCh38] Chr16:70292872 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1529G>A (p.Arg510His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236889]\|Inborn genetic diseases [RCV003093909]	Chr16:70262488 [GRCh38] Chr16:70296391 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.940C>T (p.Arg314Trp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236927]\|Inborn genetic diseases [RCV004603183]	Chr16:70269640 [GRCh38] Chr16:70303543 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.912C>G (p.Thr304=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236928]	Chr16:70269668 [GRCh38] Chr16:70303571 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.856G>A (p.Glu286Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236931]\|not provided [RCV002274248]	Chr16:70269724 [GRCh38] Chr16:70303627 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.816+15G>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236936]	Chr16:70270181 [GRCh38] Chr16:70304084 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.761A>C (p.Lys254Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236940]	Chr16:70270251 [GRCh38] Chr16:70304154 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.334-14T>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236966]	Chr16:70276645 [GRCh38] Chr16:70310548 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.215C>T (p.Thr72Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236972]	Chr16:70277084 [GRCh38] Chr16:70310987 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.184C>A (p.Pro62Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236973]	Chr16:70277115 [GRCh38] Chr16:70311018 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.71C>T (p.Thr24Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236978]\|Inborn genetic diseases [RCV002463178]\|not provided [RCV002277097]	Chr16:70282693 [GRCh38] Chr16:70316596 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2010T>C (p.Asp670=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003109006]	Chr16:70258200 [GRCh38] Chr16:70292103 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2612T>C (p.Leu871Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239788]	Chr16:70253377 [GRCh38] Chr16:70287280 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2491C>T (p.Arg831Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239794]	Chr16:70253948 [GRCh38] Chr16:70287851 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2485T>C (p.Leu829=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239795]	Chr16:70253954 [GRCh38] Chr16:70287857 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2401-16C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239796]	Chr16:70254054 [GRCh38] Chr16:70287957 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2401-17T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239797]	Chr16:70254055 [GRCh38] Chr16:70287958 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2137C>T (p.Pro713Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239806]	Chr16:70258073 [GRCh38] Chr16:70291976 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2025A>G (p.Ala675=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239807]	Chr16:70258185 [GRCh38] Chr16:70292088 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1993-7C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239808]	Chr16:70258224 [GRCh38] Chr16:70292127 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1993-13_1993-11del	microsatellite	Charcot-Marie-Tooth disease type 2 [RCV002239809]	Chr16:70258228..70258230 [GRCh38] Chr16:70292131..70292133 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2752G>A (p.Glu918Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239785]	Chr16:70252876 [GRCh38] Chr16:70286779 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2749A>C (p.Ser917Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239786]	Chr16:70252879 [GRCh38] Chr16:70286782 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2722-28_2740dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV002239787]\|Inborn genetic diseases [RCV002463173]\|not provided [RCV004793747]\|not specified [RCV003331335]	Chr16:70252887..70252888 [GRCh38] Chr16:70286790..70286791 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1905A>G (p.Arg635=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239810]	Chr16:70259067 [GRCh38] Chr16:70292970 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1902C>T (p.Leu634=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239811]\|not provided [RCV004809797]	Chr16:70259070 [GRCh38] Chr16:70292973 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1718T>G (p.Val573Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239817]	Chr16:70261111 [GRCh38] Chr16:70295014 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1493-9C>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239818]	Chr16:70262533 [GRCh38] Chr16:70296436 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1492+19T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239819]	Chr16:70264939 [GRCh38] Chr16:70298842 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1492+10TG[3]	microsatellite	Charcot-Marie-Tooth disease type 2 [RCV002239820]	Chr16:70264944..70264945 [GRCh38] Chr16:70298847..70298848 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1492+13G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239821]	Chr16:70264945 [GRCh38] Chr16:70298848 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1348-11C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239822]	Chr16:70265113 [GRCh38] Chr16:70299016 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1348-20C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239823]	Chr16:70265122 [GRCh38] Chr16:70299025 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.284A>C (p.His95Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239846]	Chr16:70277015 [GRCh38] Chr16:70310918 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.144+14C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239847]	Chr16:70282606 [GRCh38] Chr16:70316509 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.118C>T (p.Leu40Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239848]	Chr16:70282646 [GRCh38] Chr16:70316549 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.84G>A (p.Ser28=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239849]	Chr16:70282680 [GRCh38] Chr16:70316583 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2177+5G>A	single nucleotide variant	AARS1-related disorder [RCV003408174]\|Charcot-Marie-Tooth disease type 2 [RCV002237197]\|not provided [RCV002227376]	Chr16:70258028 [GRCh38] Chr16:70291931 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2178_2179delinsTT (p.His727Tyr)	indel	Charcot-Marie-Tooth disease type 2 [RCV002236843]	Chr16:70255835..70255836 [GRCh38] Chr16:70289738..70289739 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1992+14C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236859]	Chr16:70258966 [GRCh38] Chr16:70292869 [GRCh37] Chr16:16q22.1	likely benign
NC_000016.9:g.(?_70301542)_(70305895_?)del	deletion	Charcot-Marie-Tooth disease type 2 [RCV002236764]	Chr16:70301542..70305895 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.2889C>G (p.Leu963=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236789]	Chr16:70252739 [GRCh38] Chr16:70286642 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.312G>A (p.Trp104Ter)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV002247706]\|Charcot-Marie-Tooth disease type 2 [RCV002239845]	Chr16:70276987 [GRCh38] Chr16:70310890 [GRCh37] Chr16:16q22.1	pathogenic\|likely pathogenic\|uncertain significance
NM_001605.3(AARS1):c.2721+15G>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236800]	Chr16:70253253 [GRCh38] Chr16:70287156 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2608-17C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236807]	Chr16:70253398 [GRCh38] Chr16:70287301 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2607+18G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236809]	Chr16:70253696 [GRCh38] Chr16:70287599 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2401-11A>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236824]	Chr16:70254049 [GRCh38] Chr16:70287952 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2288C>T (p.Ala763Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236835]	Chr16:70254733 [GRCh38] Chr16:70288636 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1786-7T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236877]	Chr16:70259193 [GRCh38] Chr16:70293096 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.977G>C (p.Arg326Pro)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV002249209]	Chr16:70268365 [GRCh38] Chr16:70302268 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.2249G>A (p.Arg750Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002543886]\|Inborn genetic diseases [RCV002463022]\|not provided [RCV001726997]	Chr16:70255765 [GRCh38] Chr16:70289668 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1786C>T (p.Pro596Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 29 [RCV001725925]	Chr16:70259186 [GRCh38] Chr16:70293089 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1427G>A (p.Arg476Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236897]	Chr16:70265023 [GRCh38] Chr16:70298926 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1222G>T (p.Gly408Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236910]	Chr16:70267659 [GRCh38] Chr16:70301562 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.829C>T (p.Arg277Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236932]	Chr16:70269751 [GRCh38] Chr16:70303654 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.713T>C (p.Ile238Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236944]	Chr16:70270299 [GRCh38] Chr16:70304202 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.622G>C (p.Asp208His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236949]\|not provided [RCV002280207]	Chr16:70271830 [GRCh38] Chr16:70305733 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.479+5G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236959]	Chr16:70276481 [GRCh38] Chr16:70310384 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.229C>T (p.Arg77Trp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236970]	Chr16:70277070 [GRCh38] Chr16:70310973 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.177A>G (p.Pro59=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236974]	Chr16:70277122 [GRCh38] Chr16:70311025 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2353A>C (p.Thr785Pro)	single nucleotide variant	not provided [RCV004784814]	Chr16:70254668 [GRCh38] Chr16:70288571 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.455G>T (p.Cys152Phe)	single nucleotide variant	Hereditary diffuse leukoencephalopathy with spheroids [RCV001728170]\|Leukoencephalopathy, hereditary diffuse, with spheroids 2 [RCV001806251]	Chr16:70276510 [GRCh38] Chr16:70310413 [GRCh37] Chr16:16q22.1	pathogenic\|likely pathogenic
NC_000016.9:g.(?_70286624)_(70296447_?)dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV002236762]	Chr16:70286624..70296447 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2724T>C (p.Asn908=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236794]	Chr16:70252904 [GRCh38] Chr16:70286807 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2722-16C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236797]	Chr16:70252922 [GRCh38] Chr16:70286825 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2721+17A>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236798]	Chr16:70253251 [GRCh38] Chr16:70287154 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2721+3C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236804]	Chr16:70253265 [GRCh38] Chr16:70287168 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2521-12T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236813]	Chr16:70253812 [GRCh38] Chr16:70287715 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2475C>T (p.Val825=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236816]	Chr16:70253964 [GRCh38] Chr16:70287867 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2369A>T (p.Asp790Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236828]	Chr16:70254652 [GRCh38] Chr16:70288555 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.2216T>C (p.Ile739Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236840]	Chr16:70255798 [GRCh38] Chr16:70289701 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2118G>C (p.Leu706Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236849]	Chr16:70258092 [GRCh38] Chr16:70291995 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2103C>T (p.Val701=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236851]	Chr16:70258107 [GRCh38] Chr16:70292010 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1921A>G (p.Lys641Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236867]\|Inborn genetic diseases [RCV003164339]	Chr16:70259051 [GRCh38] Chr16:70292954 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1538A>C (p.Lys513Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236886]	Chr16:70262479 [GRCh38] Chr16:70296382 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1421G>A (p.Arg474Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236898]	Chr16:70265029 [GRCh38] Chr16:70298932 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1222+17G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236905]	Chr16:70267642 [GRCh38] Chr16:70301545 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1222+7_1222+8insTTGC	insertion	Charcot-Marie-Tooth disease type 2 [RCV002236907]	Chr16:70267651..70267652 [GRCh38] Chr16:70301554..70301555 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1222+7A>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236908]	Chr16:70267652 [GRCh38] Chr16:70301555 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1122C>T (p.Ile374=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236914]	Chr16:70267759 [GRCh38] Chr16:70301662 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1082T>G (p.Phe361Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236917]	Chr16:70267799 [GRCh38] Chr16:70301702 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1042A>G (p.Thr348Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236921]\|not provided [RCV002279979]	Chr16:70268300 [GRCh38] Chr16:70302203 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.822A>T (p.Thr274=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236933]	Chr16:70269758 [GRCh38] Chr16:70303661 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.816+10C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236937]	Chr16:70270186 [GRCh38] Chr16:70304089 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.760A>C (p.Lys254Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236941]	Chr16:70270252 [GRCh38] Chr16:70304155 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.726G>C (p.Met242Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236942]	Chr16:70270286 [GRCh38] Chr16:70304189 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.620A>G (p.Asp207Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236951]	Chr16:70271832 [GRCh38] Chr16:70305735 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.602C>G (p.Ala201Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236952]	Chr16:70271850 [GRCh38] Chr16:70305753 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.601G>C (p.Ala201Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236954]	Chr16:70271851 [GRCh38] Chr16:70305754 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.162G>A (p.Leu54=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236975]	Chr16:70277137 [GRCh38] Chr16:70311040 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.8C>G (p.Ser3Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236982]	Chr16:70282756 [GRCh38] Chr16:70316659 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2067dup (p.Tyr690fs)	duplication	Developmental and epileptic encephalopathy, 29 [RCV001806265]	Chr16:70258142..70258143 [GRCh38] Chr16:70292045..70292046 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.841G>C (p.Gly281Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002241389]\|not provided [RCV001763361]	Chr16:70269739 [GRCh38] Chr16:70303642 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2757G>A (p.Trp919Ter)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV003994413]\|Charcot-Marie-Tooth disease type 2 [RCV002239784]\|not provided [RCV003328492]	Chr16:70252871 [GRCh38] Chr16:70286774 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2611C>T (p.Leu871=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239789]	Chr16:70253378 [GRCh38] Chr16:70287281 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2608-16C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239790]	Chr16:70253397 [GRCh38] Chr16:70287300 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.2608-16C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239791]	Chr16:70253397 [GRCh38] Chr16:70287300 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2506G>A (p.Asp836Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239792]\|not provided [RCV003138115]	Chr16:70253933 [GRCh38] Chr16:70287836 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2495C>T (p.Ala832Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239793]	Chr16:70253944 [GRCh38] Chr16:70287847 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2396G>T (p.Gly799Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239798]\|Inborn genetic diseases [RCV003269138]	Chr16:70254625 [GRCh38] Chr16:70288528 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2385C>T (p.Ile795=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239799]	Chr16:70254636 [GRCh38] Chr16:70288539 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2286+18G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239800]	Chr16:70255710 [GRCh38] Chr16:70289613 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2274C>T (p.Ala758=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239801]\|not provided [RCV004546713]	Chr16:70255740 [GRCh38] Chr16:70289643 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2270G>A (p.Gly757Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239802]	Chr16:70255744 [GRCh38] Chr16:70289647 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2177+1G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239803]\|not provided [RCV005001295]	Chr16:70258032 [GRCh38] Chr16:70291935 [GRCh37] Chr16:16q22.1	pathogenic\|likely pathogenic\|uncertain significance
NM_001605.3(AARS1):c.2176A>C (p.Thr726Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239804]	Chr16:70258034 [GRCh38] Chr16:70291937 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2169T>C (p.Cys723=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239805]	Chr16:70258041 [GRCh38] Chr16:70291944 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1882T>C (p.Leu628=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239812]	Chr16:70259090 [GRCh38] Chr16:70292993 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1881A>G (p.Ser627=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239813]	Chr16:70259091 [GRCh38] Chr16:70292994 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1740C>T (p.Tyr580=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239814]	Chr16:70261089 [GRCh38] Chr16:70294992 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1735A>G (p.Ile579Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239815]	Chr16:70261094 [GRCh38] Chr16:70294997 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1727T>C (p.Ile576Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239816]	Chr16:70261102 [GRCh38] Chr16:70295005 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1347+14A>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239824]	Chr16:70265524 [GRCh38] Chr16:70299427 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1306G>A (p.Val436Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239825]	Chr16:70265579 [GRCh38] Chr16:70299482 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1180G>T (p.Asp394Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV003994414]\|Charcot-Marie-Tooth disease axonal type 2N [RCV002291064]\|Charcot-Marie-Tooth disease type 2 [RCV002239826]	Chr16:70267701 [GRCh38] Chr16:70301604 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1167G>T (p.Gly389=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239827]	Chr16:70267714 [GRCh38] Chr16:70301617 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1143G>A (p.Gln381=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239828]	Chr16:70267738 [GRCh38] Chr16:70301641 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1129G>A (p.Glu377Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239829]	Chr16:70267752 [GRCh38] Chr16:70301655 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.967G>T (p.Val323Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239830]	Chr16:70268375 [GRCh38] Chr16:70302278 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.963A>G (p.Gly321=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239831]	Chr16:70268379 [GRCh38] Chr16:70302282 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.963-6T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239832]	Chr16:70268385 [GRCh38] Chr16:70302288 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.853G>T (p.Ala285Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239833]	Chr16:70269727 [GRCh38] Chr16:70303630 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.832C>G (p.Pro278Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239834]	Chr16:70269748 [GRCh38] Chr16:70303651 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.709A>G (p.Ser237Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239835]	Chr16:70270303 [GRCh38] Chr16:70304206 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.704A>G (p.Lys235Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239836]\|not provided [RCV003426365]	Chr16:70270308 [GRCh38] Chr16:70304211 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.701C>G (p.Pro234Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239837]	Chr16:70270311 [GRCh38] Chr16:70304214 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.672-5T>C	single nucleotide variant	AARS1-related disorder [RCV003951349]\|Charcot-Marie-Tooth disease type 2 [RCV002239838]	Chr16:70270345 [GRCh38] Chr16:70304248 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.506G>A (p.Gly169Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239839]	Chr16:70271946 [GRCh38] Chr16:70305849 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.482T>C (p.Leu161Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239840]\|not provided [RCV004694186]	Chr16:70271970 [GRCh38] Chr16:70305873 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.480G>C (p.Gly160=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239841]\|Inborn genetic diseases [RCV004603184]	Chr16:70271972 [GRCh38] Chr16:70305875 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.333+18_333+20del	microsatellite	Charcot-Marie-Tooth disease type 2 [RCV002239842]	Chr16:70276946..70276948 [GRCh38] Chr16:70310849..70310851 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.333+17A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239843]	Chr16:70276949 [GRCh38] Chr16:70310852 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.333+4A>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002239844]	Chr16:70276962 [GRCh38] Chr16:70310865 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1588G>A (p.Asp530Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002544133]\|not provided [RCV001769303]	Chr16:70262429 [GRCh38] Chr16:70296332 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.11_15del (p.Thr4fs)	microsatellite	Charcot-Marie-Tooth disease type 2 [RCV002241581]	Chr16:70282749..70282753 [GRCh38] Chr16:70316652..70316656 [GRCh37] Chr16:16q22.1	pathogenic\|likely pathogenic\|uncertain significance
NM_001605.3(AARS1):c.602C>T (p.Ala201Val)	single nucleotide variant	not provided [RCV001773376]	Chr16:70271850 [GRCh38] Chr16:70305753 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1009G>A (p.Glu337Lys)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV001806263]\|Charcot-Marie-Tooth disease type 2 [RCV002541169]	Chr16:70268333 [GRCh38] Chr16:70302236 [GRCh37] Chr16:16q22.1	pathogenic\|likely pathogenic
NM_001605.3(AARS1):c.1880C>T (p.Ser627Leu)	single nucleotide variant	not provided [RCV001785172]	Chr16:70259092 [GRCh38] Chr16:70292995 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_001605.3(AARS1):c.1979T>C (p.Ile660Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005094942]\|not provided [RCV001752164]	Chr16:70258993 [GRCh38] Chr16:70292896 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.418G>A (p.Gly140Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002241577]\|Inborn genetic diseases [RCV002463027]\|not provided [RCV001768493]	Chr16:70276547 [GRCh38] Chr16:70310450 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.86C>T (p.Ser29Phe)	single nucleotide variant	Developmental and epileptic encephalopathy, 29 [RCV001796955]	Chr16:70282678 [GRCh38] Chr16:70316581 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2248C>T (p.Arg750Trp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002241388]\|Developmental and epileptic encephalopathy, 29 [RCV003448414]\|not provided [RCV001758267]	Chr16:70255766 [GRCh38] Chr16:70289669 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1091T>C (p.Leu364Pro)	single nucleotide variant	not provided [RCV001757272]	Chr16:70267790 [GRCh38] Chr16:70301693 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.737G>A (p.Arg246Gln)	single nucleotide variant	not provided [RCV001757975]	Chr16:70270275 [GRCh38] Chr16:70304178 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2232C>T (p.Ala744=)	single nucleotide variant	not provided [RCV001811911]	Chr16:70255782 [GRCh38] Chr16:70289685 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2076C>T (p.Asp692=)	single nucleotide variant	not provided [RCV001816176]	Chr16:70258134 [GRCh38] Chr16:70292037 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2176A>G (p.Thr726Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002542372]\|Trichothiodystrophy 8, nonphotosensitive [RCV001804213]	Chr16:70258034 [GRCh38] Chr16:70291937 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.2287-12G>A	single nucleotide variant	not provided [RCV001811883]	Chr16:70254746 [GRCh38] Chr16:70288649 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1897del (p.Arg633fs)	deletion	Developmental and epileptic encephalopathy, 29 [RCV001804208]	Chr16:70259075 [GRCh38] Chr16:70292978 [GRCh37] Chr16:16q22.1	likely pathogenic
NC_000016.9:g.(?_69680960)_(72146396_?)dup	duplication	Immunodeficiency [RCV001950695]	Chr16:69680960..72146396 [GRCh37] Chr16:16q22.1-22.2	uncertain significance
GRCh37/hg19 16q22.1(chr16:70024576-70673886)	copy number gain	not specified [RCV002052534]	Chr16:70024576..70673886 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q22.1-22.2(chr16:70273406-70960990)	copy number gain	not specified [RCV002052535]	Chr16:70273406..70960990 [GRCh37] Chr16:16q22.1-22.2	uncertain significance
GRCh37/hg19 16q22.1-22.2(chr16:70272361-70983737)x1	copy number loss	not provided [RCV001834260]	Chr16:70272361..70983737 [GRCh37] Chr16:16q22.1-22.2	uncertain significance
NC_000016.9:g.(?_66545871)_(72146396_?)dup	duplication	Dyskeratosis congenita, autosomal dominant 6 [RCV001900384]\|Immunodeficiency [RCV001900385]\|not provided [RCV001900386]	Chr16:66545871..72146396 [GRCh37] Chr16:16q21-22.2	uncertain significance
NC_000016.9:g.(?_70286624)_(70316666_?)dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV004582796]	Chr16:70286624..70316666 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2860C>T (p.Leu954=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236790]	Chr16:70252768 [GRCh38] Chr16:70286671 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2721+15G>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236799]	Chr16:70253253 [GRCh38] Chr16:70287156 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2686G>A (p.Ala896Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236805]\|Inborn genetic diseases [RCV003269137]	Chr16:70253303 [GRCh38] Chr16:70287206 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2518C>T (p.Arg840Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236815]	Chr16:70253921 [GRCh38] Chr16:70287824 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.2453C>T (p.Thr818Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236818]	Chr16:70253986 [GRCh38] Chr16:70287889 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2440G>A (p.Glu814Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236820]	Chr16:70253999 [GRCh38] Chr16:70287902 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2385C>G (p.Ile795Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236826]	Chr16:70254636 [GRCh38] Chr16:70288539 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2217C>G (p.Ile739Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236839]	Chr16:70255797 [GRCh38] Chr16:70289700 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1992+1G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236861]	Chr16:70258979 [GRCh38] Chr16:70292882 [GRCh37] Chr16:16q22.1	likely pathogenic\|uncertain significance
NM_001605.3(AARS1):c.1948A>C (p.Lys650Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236866]	Chr16:70259024 [GRCh38] Chr16:70292927 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1877G>C (p.Gly626Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236870]	Chr16:70259095 [GRCh38] Chr16:70292998 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1854G>A (p.Val618=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236871]	Chr16:70259118 [GRCh38] Chr16:70293021 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1792C>T (p.Arg598Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236873]	Chr16:70259180 [GRCh38] Chr16:70293083 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.1790G>A (p.Arg597Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236875]	Chr16:70259182 [GRCh38] Chr16:70293085 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1785+4A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236879]	Chr16:70261040 [GRCh38] Chr16:70294943 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1671+9A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236882]	Chr16:70262337 [GRCh38] Chr16:70296240 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1222G>C (p.Gly408Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236911]	Chr16:70267659 [GRCh38] Chr16:70301562 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1219C>A (p.Pro407Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236912]	Chr16:70267662 [GRCh38] Chr16:70301565 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1071+1G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236920]	Chr16:70268270 [GRCh38] Chr16:70302173 [GRCh37] Chr16:16q22.1	likely pathogenic\|uncertain significance
NM_001605.3(AARS1):c.951C>T (p.Asn317=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236925]	Chr16:70269629 [GRCh38] Chr16:70303532 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.816+6G>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236938]	Chr16:70270190 [GRCh38] Chr16:70304093 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.720_721del (p.Gly241fs)	deletion	Charcot-Marie-Tooth disease type 2 [RCV002236943]	Chr16:70270291..70270292 [GRCh38] Chr16:70304194..70304195 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.58A>T (p.Arg20Trp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236979]	Chr16:70282706 [GRCh38] Chr16:70316609 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.9:g.(?_70286624)_(70293109_?)del	deletion	Charcot-Marie-Tooth disease type 2 [RCV002236761]	Chr16:70286624..70293109 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2835T>C (p.Val945=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236791]	Chr16:70252793 [GRCh38] Chr16:70286696 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2765A>T (p.Gln922Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236792]	Chr16:70252863 [GRCh38] Chr16:70286766 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2721+14C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236802]	Chr16:70253254 [GRCh38] Chr16:70287157 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2471A>G (p.Lys824Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236817]\|Inborn genetic diseases [RCV004603182]	Chr16:70253968 [GRCh38] Chr16:70287871 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2322C>G (p.Leu774=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236833]	Chr16:70254699 [GRCh38] Chr16:70288602 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2287-15G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236837]	Chr16:70254749 [GRCh38] Chr16:70288652 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2191T>G (p.Ser731Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236842]	Chr16:70255823 [GRCh38] Chr16:70289726 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2178-4dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV002236844]	Chr16:70255839..70255840 [GRCh38] Chr16:70289742..70289743 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2130C>T (p.Pro710=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236848]	Chr16:70258080 [GRCh38] Chr16:70291983 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2100G>A (p.Gly700=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236852]	Chr16:70258110 [GRCh38] Chr16:70292013 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1907T>G (p.Phe636Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236868]\|Inborn genetic diseases [RCV004045105]	Chr16:70259065 [GRCh38] Chr16:70292968 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1878C>T (p.Gly626=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV003326012]\|Charcot-Marie-Tooth disease type 2 [RCV002236869]	Chr16:70259094 [GRCh38] Chr16:70292997 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance\|not provided
NM_001605.3(AARS1):c.1824G>C (p.Thr608=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236872]	Chr16:70259148 [GRCh38] Chr16:70293051 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1789C>T (p.Arg597Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236876]	Chr16:70259183 [GRCh38] Chr16:70293086 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.1785+16G>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236878]	Chr16:70261028 [GRCh38] Chr16:70294931 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1533G>A (p.Arg511=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236888]	Chr16:70262484 [GRCh38] Chr16:70296387 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1525C>G (p.Leu509Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236890]\|Inborn genetic diseases [RCV002463176]	Chr16:70262492 [GRCh38] Chr16:70296395 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1435G>A (p.Glu479Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236895]	Chr16:70265015 [GRCh38] Chr16:70298918 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1223-9G>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236904]	Chr16:70265671 [GRCh38] Chr16:70299574 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1191T>G (p.Ile397Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236913]	Chr16:70267690 [GRCh38] Chr16:70301593 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1073G>T (p.Gly358Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236918]\|Inborn genetic diseases [RCV004045106]\|not provided [RCV002292692]	Chr16:70267808 [GRCh38] Chr16:70301711 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1036T>C (p.Phe346Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236922]	Chr16:70268306 [GRCh38] Chr16:70302209 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.962+19G>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236923]	Chr16:70269599 [GRCh38] Chr16:70303502 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.911C>T (p.Thr304Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236929]	Chr16:70269669 [GRCh38] Chr16:70303572 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.811C>G (p.Gln271Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236939]	Chr16:70270201 [GRCh38] Chr16:70304104 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.479+12C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236957]	Chr16:70276474 [GRCh38] Chr16:70310377 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.343T>C (p.Cys115Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236963]	Chr16:70276622 [GRCh38] Chr16:70310525 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2721+8C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236803]	Chr16:70253260 [GRCh38] Chr16:70287163 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2608-17C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236806]	Chr16:70253398 [GRCh38] Chr16:70287301 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2607+18G>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236808]	Chr16:70253696 [GRCh38] Chr16:70287599 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2409C>T (p.Ala803=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236822]	Chr16:70254030 [GRCh38] Chr16:70287933 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2361A>C (p.Pro787=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236829]	Chr16:70254660 [GRCh38] Chr16:70288563 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2193G>A (p.Ser731=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236841]	Chr16:70255821 [GRCh38] Chr16:70289724 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2177+9T>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236847]	Chr16:70258024 [GRCh38] Chr16:70291927 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2049G>T (p.Arg683=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236856]	Chr16:70258161 [GRCh38] Chr16:70292064 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1992+19G>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236857]	Chr16:70258961 [GRCh38] Chr16:70292864 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1672-5C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236881]	Chr16:70261162 [GRCh38] Chr16:70295065 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1561A>G (p.Thr521Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236884]\|Inborn genetic diseases [RCV002463175]	Chr16:70262456 [GRCh38] Chr16:70296359 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1554G>A (p.Glu518=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236885]	Chr16:70262463 [GRCh38] Chr16:70296366 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1536G>A (p.Glu512=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236887]	Chr16:70262481 [GRCh38] Chr16:70296384 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1461C>T (p.Tyr487=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236892]	Chr16:70264989 [GRCh38] Chr16:70298892 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1444G>C (p.Asp482His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236893]	Chr16:70265006 [GRCh38] Chr16:70298909 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1437G>A (p.Glu479=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236894]	Chr16:70265013 [GRCh38] Chr16:70298916 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1222+7A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236909]	Chr16:70267652 [GRCh38] Chr16:70301555 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1106A>T (p.Asp369Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236915]	Chr16:70267775 [GRCh38] Chr16:70301678 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1071+15C>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236919]	Chr16:70268256 [GRCh38] Chr16:70302159 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.817-20C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236935]	Chr16:70269783 [GRCh38] Chr16:70303686 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.671+12T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236945]	Chr16:70271769 [GRCh38] Chr16:70305672 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.648C>G (p.Asn216Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236946]	Chr16:70271804 [GRCh38] Chr16:70305707 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.622G>A (p.Asp208Asn)	single nucleotide variant	AARS1-related disorder [RCV003916399]\|Charcot-Marie-Tooth disease type 2 [RCV002236950]\|Inborn genetic diseases [RCV002463177]\|not provided [RCV004694185]	Chr16:70271830 [GRCh38] Chr16:70305733 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.480-17C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236956]	Chr16:70271989 [GRCh38] Chr16:70305892 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.479+5G>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236958]\|Inborn genetic diseases [RCV003269139]	Chr16:70276481 [GRCh38] Chr16:70310384 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.387C>T (p.Pro129=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236962]	Chr16:70276578 [GRCh38] Chr16:70310481 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.334-19CT[2]	microsatellite	Charcot-Marie-Tooth disease type 2 [RCV002236965]	Chr16:70276645..70276646 [GRCh38] Chr16:70310548..70310549 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.225C>T (p.Cys75=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236971]	Chr16:70277074 [GRCh38] Chr16:70310977 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.145-4T>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236976]	Chr16:70277158 [GRCh38] Chr16:70311061 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.145-15G>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236977]	Chr16:70277169 [GRCh38] Chr16:70311072 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.9T>G (p.Ser3=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236981]	Chr16:70282755 [GRCh38] Chr16:70316658 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.241A>G (p.Lys81Glu)	single nucleotide variant	Developmental and epileptic encephalopathy, 29 [RCV002251211]	Chr16:70277058 [GRCh38] Chr16:70310961 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	copy number gain	not provided [RCV002221458]	Chr16:46503968..90155062 [GRCh37] Chr16:16q11.2-24.3	pathogenic
NM_001605.3(AARS1):c.1689G>A (p.Val563=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002237196]\|not provided [RCV002227370]	Chr16:70261140 [GRCh38] Chr16:70295043 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2476A>C (p.Met826Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003110909]	Chr16:70253963 [GRCh38] Chr16:70287866 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1072-10C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003115207]	Chr16:70267819 [GRCh38] Chr16:70301722 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.215C>A (p.Thr72Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003116968]	Chr16:70277084 [GRCh38] Chr16:70310987 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1360G>A (p.Gly454Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003115535]	Chr16:70265090 [GRCh38] Chr16:70298993 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1728T>G (p.Ile576Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003115736]	Chr16:70261101 [GRCh38] Chr16:70295004 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.9:g.(?_70286296)_(70296428_70298860)dup	duplication	not specified [RCV003123423]	Chr16:70286296..70296428 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.9:g.(?_65821800)_(72146396_?)del	deletion	Dyskeratosis congenita, autosomal dominant 6 [RCV003122496]	Chr16:65821800..72146396 [GRCh37] Chr16:16q21-22.2	uncertain significance
NM_001605.3(AARS1):c.232G>T (p.Ala78Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005099409]\|Developmental and epileptic encephalopathy, 29 [RCV003147864]\|Inborn genetic diseases [RCV004963586]	Chr16:70277067 [GRCh38] Chr16:70310970 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2735G>A (p.Arg912Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236793]	Chr16:70252893 [GRCh38] Chr16:70286796 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2722-12C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236796]	Chr16:70252918 [GRCh38] Chr16:70286821 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2721+15G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236801]	Chr16:70253253 [GRCh38] Chr16:70287156 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2555A>G (p.Asn852Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236810]	Chr16:70253766 [GRCh38] Chr16:70287669 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2534C>T (p.Thr845Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236811]	Chr16:70253787 [GRCh38] Chr16:70287690 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2520+19A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236814]	Chr16:70253900 [GRCh38] Chr16:70287803 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2446C>T (p.Arg816Trp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236819]	Chr16:70253993 [GRCh38] Chr16:70287896 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2405T>A (p.Leu802Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236823]	Chr16:70254034 [GRCh38] Chr16:70287937 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2178-17T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236846]	Chr16:70255853 [GRCh38] Chr16:70289756 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2106G>A (p.Pro702=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236850]	Chr16:70258104 [GRCh38] Chr16:70292007 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2070T>C (p.Tyr690=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236855]	Chr16:70258140 [GRCh38] Chr16:70292043 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1989C>T (p.Ala663=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236862]	Chr16:70258983 [GRCh38] Chr16:70292886 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1975A>G (p.Met659Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236864]	Chr16:70258997 [GRCh38] Chr16:70292900 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1962G>A (p.Glu654=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236865]	Chr16:70259010 [GRCh38] Chr16:70292913 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1764G>C (p.Gln588His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236880]\|Inborn genetic diseases [RCV002463174]	Chr16:70261065 [GRCh38] Chr16:70294968 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1432C>G (p.Leu478Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236896]	Chr16:70265018 [GRCh38] Chr16:70298921 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1382A>T (p.Asp461Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236899]	Chr16:70265068 [GRCh38] Chr16:70298971 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1263A>G (p.Pro421=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236903]	Chr16:70265622 [GRCh38] Chr16:70299525 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.952A>G (p.Thr318Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236924]	Chr16:70269628 [GRCh38] Chr16:70303531 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.817-16del	deletion	Charcot-Marie-Tooth disease type 2 [RCV002236934]	Chr16:70269779 [GRCh38] Chr16:70303682 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.601G>T (p.Ala201Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236953]	Chr16:70271851 [GRCh38] Chr16:70305754 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.334-6_338del	deletion	Charcot-Marie-Tooth disease type 2 [RCV002236964]	Chr16:70276627..70276637 [GRCh38] Chr16:70310530..70310540 [GRCh37] Chr16:16q22.1	likely pathogenic\|uncertain significance
NM_001605.3(AARS1):c.276C>G (p.Val92=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236967]	Chr16:70277023 [GRCh38] Chr16:70310926 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.267C>T (p.Gly89=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236968]	Chr16:70277032 [GRCh38] Chr16:70310935 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2192C>G (p.Ser731Trp)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV002249208]	Chr16:70255822 [GRCh38] Chr16:70289725 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.2722-7C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236795]	Chr16:70252913 [GRCh38] Chr16:70286816 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2521G>A (p.Val841Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236812]	Chr16:70253800 [GRCh38] Chr16:70287703 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2401-15G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236825]	Chr16:70254053 [GRCh38] Chr16:70287956 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2330T>C (p.Met777Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236831]	Chr16:70254691 [GRCh38] Chr16:70288594 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2326G>C (p.Val776Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236832]	Chr16:70254695 [GRCh38] Chr16:70288598 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2294G>A (p.Arg765Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236834]	Chr16:70254727 [GRCh38] Chr16:70288630 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2227G>A (p.Glu743Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236838]	Chr16:70255787 [GRCh38] Chr16:70289690 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2095A>T (p.Ile699Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236853]	Chr16:70258115 [GRCh38] Chr16:70292018 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2079T>C (p.Pro693=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236854]	Chr16:70258131 [GRCh38] Chr16:70292034 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1992+15G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236858]	Chr16:70258965 [GRCh38] Chr16:70292868 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1985C>A (p.Ala662Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236863]	Chr16:70258987 [GRCh38] Chr16:70292890 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1790G>T (p.Arg597Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236874]\|not provided [RCV003327555]	Chr16:70259182 [GRCh38] Chr16:70293085 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1645G>A (p.Val549Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236883]	Chr16:70262372 [GRCh38] Chr16:70296275 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1492+5G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236891]	Chr16:70264953 [GRCh38] Chr16:70298856 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1361G>T (p.Gly454Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236900]	Chr16:70265089 [GRCh38] Chr16:70298992 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1348-10T>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236901]	Chr16:70265112 [GRCh38] Chr16:70299015 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1302G>A (p.Leu434=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236902]	Chr16:70265583 [GRCh38] Chr16:70299486 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1222+16del	deletion	Charcot-Marie-Tooth disease type 2 [RCV002236906]	Chr16:70267643 [GRCh38] Chr16:70301546 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.1093A>G (p.Lys365Glu)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV003444244]\|Charcot-Marie-Tooth disease type 2 [RCV002236916]	Chr16:70267788 [GRCh38] Chr16:70301691 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.941G>A (p.Arg314Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236926]	Chr16:70269639 [GRCh38] Chr16:70303542 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.889G>C (p.Val297Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236930]\|Inborn genetic diseases [RCV004965817]	Chr16:70269691 [GRCh38] Chr16:70303594 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.642C>A (p.Ile214=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236947]	Chr16:70271810 [GRCh38] Chr16:70305713 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.634C>T (p.Leu212=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236948]	Chr16:70271818 [GRCh38] Chr16:70305721 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.576C>T (p.Tyr192=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236955]	Chr16:70271876 [GRCh38] Chr16:70305779 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.427G>A (p.Ala143Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236960]	Chr16:70276538 [GRCh38] Chr16:70310441 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.417C>T (p.Gly139=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236961]\|not provided [RCV003426366]	Chr16:70276548 [GRCh38] Chr16:70310451 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.231G>T (p.Arg77=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236969]	Chr16:70277068 [GRCh38] Chr16:70310971 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.37C>T (p.Arg13Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002236980]	Chr16:70282727 [GRCh38] Chr16:70316630 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.1087G>C (p.Glu363Gln)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV002289290]	Chr16:70267794 [GRCh38] Chr16:70301697 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.961G>C (p.Gly321Arg)	single nucleotide variant	Leukoencephalopathy, hereditary diffuse, with spheroids 2 [RCV002281620]	Chr16:70269619 [GRCh38] Chr16:70303522 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_001605.3(AARS1):c.2600C>T (p.Ser867Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002991781]	Chr16:70253721 [GRCh38] Chr16:70287624 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2114A>G (p.Glu705Gly)	single nucleotide variant	Inborn genetic diseases [RCV002460604]	Chr16:70258096 [GRCh38] Chr16:70291999 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.604C>T (p.His202Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002460636]	Chr16:70271848 [GRCh38] Chr16:70305751 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1840G>C (p.Ala614Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003103079]\|Inborn genetic diseases [RCV002460717]	Chr16:70259132 [GRCh38] Chr16:70293035 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.661C>T (p.Gln221Ter)	single nucleotide variant	Inborn genetic diseases [RCV002460731]	Chr16:70271791 [GRCh38] Chr16:70305694 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.1216A>G (p.Ile406Val)	single nucleotide variant	Inborn genetic diseases [RCV002460740]	Chr16:70267665 [GRCh38] Chr16:70301568 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2400+5G>T	single nucleotide variant	Inborn genetic diseases [RCV002460749]	Chr16:70254616 [GRCh38] Chr16:70288519 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1243T>A (p.Tyr415Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003775471]\|Inborn genetic diseases [RCV002460809]	Chr16:70265642 [GRCh38] Chr16:70299545 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1478C>G (p.Ser493Cys)	single nucleotide variant	Inborn genetic diseases [RCV002460825]	Chr16:70264972 [GRCh38] Chr16:70298875 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.877A>T (p.Met293Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003103071]\|Inborn genetic diseases [RCV002460587]\|not provided [RCV002481088]	Chr16:70269703 [GRCh38] Chr16:70303606 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1520T>C (p.Met507Thr)	single nucleotide variant	Inborn genetic diseases [RCV002460643]	Chr16:70262497 [GRCh38] Chr16:70296400 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1172G>A (p.Arg391His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003103063]\|Inborn genetic diseases [RCV002460490]	Chr16:70267709 [GRCh38] Chr16:70301612 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.323A>T (p.Asp108Val)	single nucleotide variant	Inborn genetic diseases [RCV002460667]	Chr16:70276976 [GRCh38] Chr16:70310879 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1699C>T (p.Gln567Ter)	single nucleotide variant	Inborn genetic diseases [RCV002460375]	Chr16:70261130 [GRCh38] Chr16:70295033 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.2785G>C (p.Gly929Arg)	single nucleotide variant	Inborn genetic diseases [RCV002460482]	Chr16:70252843 [GRCh38] Chr16:70286746 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1295A>G (p.Lys432Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003775465]\|Inborn genetic diseases [RCV002460536]	Chr16:70265590 [GRCh38] Chr16:70299493 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1171C>A (p.Arg391Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003103069]\|Inborn genetic diseases [RCV002460568]	Chr16:70267710 [GRCh38] Chr16:70301613 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.144+6G>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003032310]	Chr16:70282614 [GRCh38] Chr16:70316517 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2859G>C (p.Gln953His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002993768]\|not provided [RCV003482433]	Chr16:70252769 [GRCh38] Chr16:70286672 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2520+18C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002727076]	Chr16:70253901 [GRCh38] Chr16:70287804 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1898G>A (p.Arg633His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003073678]	Chr16:70259074 [GRCh38] Chr16:70292977 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2546T>C (p.Ile849Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005098419]\|Inborn genetic diseases [RCV002461549]	Chr16:70253775 [GRCh38] Chr16:70287678 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2599T>C (p.Ser867Pro)	single nucleotide variant	Inborn genetic diseases [RCV002461602]	Chr16:70253722 [GRCh38] Chr16:70287625 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1222+18C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003074008]	Chr16:70267641 [GRCh38] Chr16:70301544 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.542C>T (p.Thr181Met)	single nucleotide variant	AARS1-related disorder [RCV003418687]\|Charcot-Marie-Tooth disease type 2 [RCV002972010]\|Inborn genetic diseases [RCV004068344]	Chr16:70271910 [GRCh38] Chr16:70305813 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1746C>T (p.Asp582=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002862523]	Chr16:70261083 [GRCh38] Chr16:70294986 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1072-16G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002972401]	Chr16:70267825 [GRCh38] Chr16:70301728 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.885C>T (p.Tyr295=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002970959]	Chr16:70269695 [GRCh38] Chr16:70303598 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1026C>G (p.Ser342Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002690419]	Chr16:70268316 [GRCh38] Chr16:70302219 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.785_793del (p.Leu262_Val264del)	deletion	Charcot-Marie-Tooth disease type 2 [RCV003017012]	Chr16:70270219..70270227 [GRCh38] Chr16:70304122..70304130 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1072-10C>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002838377]	Chr16:70267819 [GRCh38] Chr16:70301722 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1817C>T (p.Thr606Ile)	single nucleotide variant	not provided [RCV002511840]	Chr16:70259155 [GRCh38] Chr16:70293058 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.465C>G (p.Ile155Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003076340]	Chr16:70276500 [GRCh38] Chr16:70310403 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1466A>G (p.Tyr489Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002996811]	Chr16:70264984 [GRCh38] Chr16:70298887 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.299T>C (p.Met100Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002997046]	Chr16:70277000 [GRCh38] Chr16:70310903 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.963-12T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002819974]	Chr16:70268391 [GRCh38] Chr16:70302294 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.902A>G (p.His301Arg)	single nucleotide variant	Inborn genetic diseases [RCV002776871]	Chr16:70269678 [GRCh38] Chr16:70303581 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2382G>A (p.Glu794=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002755495]	Chr16:70254639 [GRCh38] Chr16:70288542 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.343del (p.Cys115fs)	deletion	Inborn genetic diseases [RCV002461583]	Chr16:70276622 [GRCh38] Chr16:70310525 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.830G>A (p.Arg277Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581882]\|Inborn genetic diseases [RCV002461587]	Chr16:70269750 [GRCh38] Chr16:70303653 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2411C>G (p.Thr804Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003033356]	Chr16:70254028 [GRCh38] Chr16:70287931 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.46G>A (p.Asp16Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002905026]	Chr16:70282718 [GRCh38] Chr16:70316621 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.100T>C (p.Leu34=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002993811]	Chr16:70282664 [GRCh38] Chr16:70316567 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.911C>A (p.Thr304Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003074942]	Chr16:70269669 [GRCh38] Chr16:70303572 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1068C>G (p.Ser356=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002881344]	Chr16:70268274 [GRCh38] Chr16:70302177 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1916C>T (p.Thr639Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003103100]\|Inborn genetic diseases [RCV002461542]\|not provided [RCV003491115]	Chr16:70259056 [GRCh38] Chr16:70292959 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.556C>T (p.Pro186Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003103101]\|Inborn genetic diseases [RCV002461545]\|not provided [RCV003320893]	Chr16:70271896 [GRCh38] Chr16:70305799 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.672-4A>G	single nucleotide variant	Inborn genetic diseases [RCV002461576]	Chr16:70270344 [GRCh38] Chr16:70304247 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2672C>T (p.Thr891Met)	single nucleotide variant	Inborn genetic diseases [RCV002461588]	Chr16:70253317 [GRCh38] Chr16:70287220 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.481C>T (p.Leu161=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003075388]	Chr16:70271971 [GRCh38] Chr16:70305874 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.13C>G (p.Leu5Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002996277]	Chr16:70282751 [GRCh38] Chr16:70316654 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1050G>A (p.Val350=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002947556]	Chr16:70268292 [GRCh38] Chr16:70302195 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.1658A>G (p.Asp553Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002837812]	Chr16:70262359 [GRCh38] Chr16:70296262 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.428C>T (p.Ala143Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002881399]	Chr16:70276537 [GRCh38] Chr16:70310440 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2222C>G (p.Thr741Arg)	single nucleotide variant	Inborn genetic diseases [RCV002461555]	Chr16:70255792 [GRCh38] Chr16:70289695 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2561A>G (p.Asn854Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003076311]	Chr16:70253760 [GRCh38] Chr16:70287663 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1408A>G (p.Ile470Val)	single nucleotide variant	Inborn genetic diseases [RCV002460858]	Chr16:70265042 [GRCh38] Chr16:70298945 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1993-5G>C	single nucleotide variant	Inborn genetic diseases [RCV002461383]	Chr16:70258222 [GRCh38] Chr16:70292125 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2638A>G (p.Met880Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003014856]	Chr16:70253351 [GRCh38] Chr16:70287254 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.671+15C>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002862382]	Chr16:70271766 [GRCh38] Chr16:70305669 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2324_2325del (p.Ser775fs)	microsatellite	Charcot-Marie-Tooth disease type 2 [RCV002863664]	Chr16:70254696..70254697 [GRCh38] Chr16:70288599..70288600 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.966T>G (p.Tyr322Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003777670]\|Inborn genetic diseases [RCV002707900]	Chr16:70268376 [GRCh38] Chr16:70302279 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.1856T>C (p.Leu619Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002889850]	Chr16:70259116 [GRCh38] Chr16:70293019 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1534G>A (p.Glu512Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002871564]	Chr16:70262483 [GRCh38] Chr16:70296386 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2123A>G (p.Asp708Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002785904]	Chr16:70258087 [GRCh38] Chr16:70291990 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2116T>A (p.Leu706Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002572083]	Chr16:70258094 [GRCh38] Chr16:70291997 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1305G>T (p.Val435=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002786086]	Chr16:70265580 [GRCh38] Chr16:70299483 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2863G>C (p.Ala955Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002800329]	Chr16:70252765 [GRCh38] Chr16:70286668 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2527G>C (p.Glu843Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002785888]	Chr16:70253794 [GRCh38] Chr16:70287697 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.815A>C (p.Lys272Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002824676]	Chr16:70270197 [GRCh38] Chr16:70304100 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1479C>T (p.Ser493=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002640377]	Chr16:70264971 [GRCh38] Chr16:70298874 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.940C>A (p.Arg314=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002619829]	Chr16:70269640 [GRCh38] Chr16:70303543 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.43A>C (p.Ile15Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002867549]	Chr16:70282721 [GRCh38] Chr16:70316624 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.10A>G (p.Thr4Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002867396]	Chr16:70282754 [GRCh38] Chr16:70316657 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.767C>A (p.Ser256Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002691210]	Chr16:70270245 [GRCh38] Chr16:70304148 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2400+9G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002909176]	Chr16:70254612 [GRCh38] Chr16:70288515 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.623A>C (p.Asp208Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003036088]	Chr16:70271829 [GRCh38] Chr16:70305732 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.63C>G (p.Asn21Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002637504]	Chr16:70282701 [GRCh38] Chr16:70316604 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2521-41_2521-16del	deletion	Charcot-Marie-Tooth disease type 2 [RCV002847239]	Chr16:70253816..70253841 [GRCh38] Chr16:70287719..70287744 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.104A>T (p.Asp35Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002912806]	Chr16:70282660 [GRCh38] Chr16:70316563 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2476A>G (p.Met826Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002735931]	Chr16:70253963 [GRCh38] Chr16:70287866 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1439T>C (p.Val480Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002780998]	Chr16:70265011 [GRCh38] Chr16:70298914 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.479+10C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002592166]	Chr16:70276476 [GRCh38] Chr16:70310379 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2112C>G (p.Ser704=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002948787]	Chr16:70258098 [GRCh38] Chr16:70292001 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2748C>T (p.Ala916=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002780488]	Chr16:70252880 [GRCh38] Chr16:70286783 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1072-15C>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002824675]	Chr16:70267824 [GRCh38] Chr16:70301727 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.535G>A (p.Gly179Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002912979]	Chr16:70271917 [GRCh38] Chr16:70305820 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2428T>C (p.Trp810Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003100188]	Chr16:70254011 [GRCh38] Chr16:70287914 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2025A>T (p.Ala675=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002823928]	Chr16:70258185 [GRCh38] Chr16:70292088 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1947C>G (p.Ile649Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002785394]	Chr16:70259025 [GRCh38] Chr16:70292928 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1206C>T (p.Asp402=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002885096]	Chr16:70267675 [GRCh38] Chr16:70301578 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.377T>A (p.Phe126Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003036801]	Chr16:70276588 [GRCh38] Chr16:70310491 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.962+7A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003052892]	Chr16:70269611 [GRCh38] Chr16:70303514 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.816+9G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002622631]	Chr16:70270187 [GRCh38] Chr16:70304090 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1297G>A (p.Gly433Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003037803]	Chr16:70265588 [GRCh38] Chr16:70299491 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1035C>T (p.Phe345=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003054190]	Chr16:70268307 [GRCh38] Chr16:70302210 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1184G>A (p.Arg395Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005099780]\|Inborn genetic diseases [RCV002869544]	Chr16:70267697 [GRCh38] Chr16:70301600 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2059G>C (p.Asp687His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002780295]	Chr16:70258151 [GRCh38] Chr16:70292054 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.89C>T (p.Ala30Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002867475]	Chr16:70282675 [GRCh38] Chr16:70316578 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.145-18G>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002637633]	Chr16:70277172 [GRCh38] Chr16:70311075 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2162A>C (p.Glu721Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002895111]	Chr16:70258048 [GRCh38] Chr16:70291951 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.399T>G (p.Leu133=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003058052]	Chr16:70276566 [GRCh38] Chr16:70310469 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1534G>C (p.Glu512Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002918214]	Chr16:70262483 [GRCh38] Chr16:70296386 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.937G>T (p.Gly313Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002805261]	Chr16:70269643 [GRCh38] Chr16:70303546 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.502C>T (p.Pro168Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002766166]\|not provided [RCV003491147]	Chr16:70271950 [GRCh38] Chr16:70305853 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1828A>G (p.Ile610Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003040527]	Chr16:70259144 [GRCh38] Chr16:70293047 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1222+19C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002918358]	Chr16:70267640 [GRCh38] Chr16:70301543 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2233A>C (p.Ile745Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002933239]	Chr16:70255781 [GRCh38] Chr16:70289684 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2550C>T (p.Asp850=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002664096]	Chr16:70253771 [GRCh38] Chr16:70287674 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2673G>A (p.Thr891=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002765975]	Chr16:70253316 [GRCh38] Chr16:70287219 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2538_2539delinsTT (p.Lys846_Gln847delinsAsnTer)	indel	Charcot-Marie-Tooth disease type 2 [RCV002791374]	Chr16:70253782..70253783 [GRCh38] Chr16:70287685..70287686 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.2401-18G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002668029]	Chr16:70254056 [GRCh38] Chr16:70287959 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.480-18T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002711398]	Chr16:70271990 [GRCh38] Chr16:70305893 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.96C>A (p.Ile32=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003083285]	Chr16:70282668 [GRCh38] Chr16:70316571 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2049G>A (p.Arg683=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002829158]	Chr16:70258161 [GRCh38] Chr16:70292064 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2694G>T (p.Lys898Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002871990]	Chr16:70253295 [GRCh38] Chr16:70287198 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2630T>G (p.Leu877Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003006385]	Chr16:70253359 [GRCh38] Chr16:70287262 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.334-19C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002800596]	Chr16:70276650 [GRCh38] Chr16:70310553 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2736G>T (p.Arg912=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003056320]	Chr16:70252892 [GRCh38] Chr16:70286795 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1852G>T (p.Val618Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002740819]	Chr16:70259120 [GRCh38] Chr16:70293023 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1517T>A (p.Val506Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003057743]	Chr16:70262500 [GRCh38] Chr16:70296403 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2653A>G (p.Thr885Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002828076]	Chr16:70253336 [GRCh38] Chr16:70287239 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.333+15G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002701210]	Chr16:70276951 [GRCh38] Chr16:70310854 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1374T>G (p.Gly458=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003008013]	Chr16:70265076 [GRCh38] Chr16:70298979 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2148C>T (p.Ser716=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002851662]	Chr16:70258062 [GRCh38] Chr16:70291965 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1196G>A (p.Ser399Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002805597]	Chr16:70267685 [GRCh38] Chr16:70301588 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1493-8T>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002786721]	Chr16:70262532 [GRCh38] Chr16:70296435 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2520+7C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002626899]	Chr16:70253912 [GRCh38] Chr16:70287815 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2286+9G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002801747]	Chr16:70255719 [GRCh38] Chr16:70289622 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1492+14C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002663911]	Chr16:70264944 [GRCh38] Chr16:70298847 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2069A>G (p.Tyr690Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002595661]	Chr16:70258141 [GRCh38] Chr16:70292044 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2890G>A (p.Gly964Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002805461]	Chr16:70252738 [GRCh38] Chr16:70286641 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1251C>G (p.Thr417=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002918507]	Chr16:70265634 [GRCh38] Chr16:70299537 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2706G>T (p.Leu902=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002917374]	Chr16:70253283 [GRCh38] Chr16:70287186 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1687G>A (p.Val563Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002894331]	Chr16:70261142 [GRCh38] Chr16:70295045 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1971T>A (p.Asn657Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002958469]	Chr16:70259001 [GRCh38] Chr16:70292904 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.23G>A (p.Ser8Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002830022]	Chr16:70282741 [GRCh38] Chr16:70316644 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.830G>C (p.Arg277Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002928686]	Chr16:70269750 [GRCh38] Chr16:70303653 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1072-3C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002624316]	Chr16:70267812 [GRCh38] Chr16:70301715 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2310G>A (p.Leu770=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002700797]	Chr16:70254711 [GRCh38] Chr16:70288614 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1699C>G (p.Gln567Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002914573]	Chr16:70261130 [GRCh38] Chr16:70295033 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1851A>G (p.Ser617=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003028765]	Chr16:70259121 [GRCh38] Chr16:70293024 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.354T>C (p.Ala118=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003090577]	Chr16:70276611 [GRCh38] Chr16:70310514 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2178-9G>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003065725]\|not specified [RCV004700928]	Chr16:70255845 [GRCh38] Chr16:70289748 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.182A>G (p.His61Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002581034]\|not provided [RCV003328493]	Chr16:70277117 [GRCh38] Chr16:70311020 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.445G>C (p.Asp149His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003047427]	Chr16:70276520 [GRCh38] Chr16:70310423 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1705C>T (p.Arg569Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002631875]	Chr16:70261124 [GRCh38] Chr16:70295027 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.1992+12G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003060230]	Chr16:70258968 [GRCh38] Chr16:70292871 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1114A>G (p.Lys372Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002746187]	Chr16:70267767 [GRCh38] Chr16:70301670 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2274C>G (p.Ala758=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002599258]	Chr16:70255740 [GRCh38] Chr16:70289643 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.982C>A (p.Leu328Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003064100]\|Inborn genetic diseases [RCV004070112]	Chr16:70268360 [GRCh38] Chr16:70302263 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2000A>C (p.Tyr667Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002629518]	Chr16:70258210 [GRCh38] Chr16:70292113 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.144+7G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003031007]	Chr16:70282613 [GRCh38] Chr16:70316516 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2722-20C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003090509]	Chr16:70252926 [GRCh38] Chr16:70286829 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2287-3C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002966915]	Chr16:70254737 [GRCh38] Chr16:70288640 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2785G>A (p.Gly929Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002599285]	Chr16:70252843 [GRCh38] Chr16:70286746 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2132C>G (p.Ser711Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002716400]	Chr16:70258078 [GRCh38] Chr16:70291981 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2177+6T>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002746512]	Chr16:70258027 [GRCh38] Chr16:70291930 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1964T>C (p.Ile655Thr)	single nucleotide variant	Inborn genetic diseases [RCV002897058]	Chr16:70259008 [GRCh38] Chr16:70292911 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1922A>G (p.Lys641Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003062695]	Chr16:70259050 [GRCh38] Chr16:70292953 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2591G>A (p.Ser864Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002717369]	Chr16:70253730 [GRCh38] Chr16:70287633 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1209C>G (p.Ser403Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002937417]	Chr16:70267672 [GRCh38] Chr16:70301575 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1671+12G>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002898991]	Chr16:70262334 [GRCh38] Chr16:70296237 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.571C>T (p.His191Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002630071]	Chr16:70271881 [GRCh38] Chr16:70305784 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1560C>T (p.Ser520=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002899442]	Chr16:70262457 [GRCh38] Chr16:70296360 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1347+7A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002833036]	Chr16:70265531 [GRCh38] Chr16:70299434 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.817-11C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002598806]	Chr16:70269774 [GRCh38] Chr16:70303677 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1283T>G (p.Ile428Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002628173]	Chr16:70265602 [GRCh38] Chr16:70299505 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.333+12G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002577899]	Chr16:70276954 [GRCh38] Chr16:70310857 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1468C>T (p.His490Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002806543]	Chr16:70264982 [GRCh38] Chr16:70298885 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2520+12C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002578672]	Chr16:70253907 [GRCh38] Chr16:70287810 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.665A>G (p.Tyr222Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003089910]	Chr16:70271787 [GRCh38] Chr16:70305690 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1049T>C (p.Val350Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003091119]	Chr16:70268293 [GRCh38] Chr16:70302196 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.334G>A (p.Glu112Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002937794]	Chr16:70276631 [GRCh38] Chr16:70310534 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2822C>T (p.Thr941Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002715737]	Chr16:70252806 [GRCh38] Chr16:70286709 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.913A>C (p.Ile305Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002629710]	Chr16:70269667 [GRCh38] Chr16:70303570 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.117G>A (p.Leu39=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003030674]	Chr16:70282647 [GRCh38] Chr16:70316550 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1216A>T (p.Ile406Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002857244]	Chr16:70267665 [GRCh38] Chr16:70301568 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2716C>G (p.Pro906Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002599273]	Chr16:70253273 [GRCh38] Chr16:70287176 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.461A>C (p.Gln154Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003029011]	Chr16:70276504 [GRCh38] Chr16:70310407 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2279C>G (p.Ala760Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002856648]	Chr16:70255735 [GRCh38] Chr16:70289638 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1992+7T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003089977]	Chr16:70258973 [GRCh38] Chr16:70292876 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.490A>G (p.Thr164Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002580535]	Chr16:70271962 [GRCh38] Chr16:70305865 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2490C>T (p.Asp830=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002811721]	Chr16:70253949 [GRCh38] Chr16:70287852 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2400+20C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002806759]	Chr16:70254601 [GRCh38] Chr16:70288504 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.370C>T (p.Gln124Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002672203]	Chr16:70276595 [GRCh38] Chr16:70310498 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.1654G>T (p.Asp552Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003060319]	Chr16:70262363 [GRCh38] Chr16:70296266 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1349T>A (p.Leu450Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002922460]	Chr16:70265101 [GRCh38] Chr16:70299004 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.29T>C (p.Ile10Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003049055]	Chr16:70282735 [GRCh38] Chr16:70316638 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2853G>A (p.Ala951=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002581890]	Chr16:70252775 [GRCh38] Chr16:70286678 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1855C>T (p.Leu619Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003065469]\|not provided [RCV003418739]	Chr16:70259117 [GRCh38] Chr16:70293020 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.431_445del (p.Ala144_Ala148del)	deletion	Charcot-Marie-Tooth disease type 2 [RCV003048888]	Chr16:70276520..70276534 [GRCh38] Chr16:70310423..70310437 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2722-2A>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003088279]	Chr16:70252908 [GRCh38] Chr16:70286811 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.756G>C (p.Gln252His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003086570]	Chr16:70270256 [GRCh38] Chr16:70304159 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2607+13C>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002933548]\|not specified [RCV003988036]	Chr16:70253701 [GRCh38] Chr16:70287604 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.850G>A (p.Gly284Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003046844]	Chr16:70269730 [GRCh38] Chr16:70303633 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1330G>T (p.Glu444Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002895720]	Chr16:70265555 [GRCh38] Chr16:70299458 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.2371G>A (p.Val791Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003010119]	Chr16:70254650 [GRCh38] Chr16:70288553 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1298G>T (p.Gly433Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003051152]	Chr16:70265587 [GRCh38] Chr16:70299490 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2880G>C (p.Gln960His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745549]\|Inborn genetic diseases [RCV002723235]	Chr16:70252748 [GRCh38] Chr16:70286651 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2509G>A (p.Val837Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003052256]	Chr16:70253930 [GRCh38] Chr16:70287833 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2643C>G (p.His881Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003092755]	Chr16:70253346 [GRCh38] Chr16:70287249 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.461A>G (p.Gln154Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002606444]	Chr16:70276504 [GRCh38] Chr16:70310407 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2031A>T (p.Lys677Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003069224]	Chr16:70258179 [GRCh38] Chr16:70292082 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.286A>G (p.Thr96Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002585033]	Chr16:70277013 [GRCh38] Chr16:70310916 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.816+13T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003093301]	Chr16:70270183 [GRCh38] Chr16:70304086 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1493-19A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003050516]	Chr16:70262543 [GRCh38] Chr16:70296446 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2178-11C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002583878]	Chr16:70255847 [GRCh38] Chr16:70289750 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1032del (p.Phe345fs)	deletion	Charcot-Marie-Tooth disease type 2 [RCV002583497]	Chr16:70268310 [GRCh38] Chr16:70302213 [GRCh37] Chr16:16q22.1	pathogenic\|uncertain significance
NM_001605.3(AARS1):c.479+10C>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002943511]	Chr16:70276476 [GRCh38] Chr16:70310379 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1348-10T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002942882]	Chr16:70265112 [GRCh38] Chr16:70299015 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2508T>C (p.Asp836=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003072479]	Chr16:70253931 [GRCh38] Chr16:70287834 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1590C>T (p.Asp530=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002608278]	Chr16:70262427 [GRCh38] Chr16:70296330 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.658A>C (p.Ile220Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003070332]	Chr16:70271794 [GRCh38] Chr16:70305697 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1725C>A (p.His575Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002587997]	Chr16:70261104 [GRCh38] Chr16:70295007 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1492+3A>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003067883]	Chr16:70264955 [GRCh38] Chr16:70298858 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2091C>T (p.Val697=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003070782]	Chr16:70258119 [GRCh38] Chr16:70292022 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1215C>T (p.Thr405=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002607784]	Chr16:70267666 [GRCh38] Chr16:70301569 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2088C>T (p.Val696=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002587117]	Chr16:70258122 [GRCh38] Chr16:70292025 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2178-17del	deletion	Charcot-Marie-Tooth disease type 2 [RCV002585419]	Chr16:70255853 [GRCh38] Chr16:70289756 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2811T>C (p.Ser937=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003073433]	Chr16:70252817 [GRCh38] Chr16:70286720 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.672-16C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003068962]	Chr16:70270356 [GRCh38] Chr16:70304259 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2517A>G (p.Lys839=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003071211]	Chr16:70253922 [GRCh38] Chr16:70287825 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.188T>C (p.Met63Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003092500]\|Inborn genetic diseases [RCV004073085]	Chr16:70277111 [GRCh38] Chr16:70311014 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.397C>G (p.Leu133Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002726109]	Chr16:70276568 [GRCh38] Chr16:70310471 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.386C>T (p.Pro129Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003092842]	Chr16:70276579 [GRCh38] Chr16:70310482 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2400+7G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002943898]	Chr16:70254614 [GRCh38] Chr16:70288517 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1728T>C (p.Ile576=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002606316]	Chr16:70261101 [GRCh38] Chr16:70295004 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1785+20C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003070104]	Chr16:70261024 [GRCh38] Chr16:70294927 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.963-8T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003067228]	Chr16:70268387 [GRCh38] Chr16:70302290 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1915A>T (p.Thr639Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002606697]	Chr16:70259057 [GRCh38] Chr16:70292960 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2400+15C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002587866]	Chr16:70254606 [GRCh38] Chr16:70288509 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1233T>C (p.Ala411=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003092364]	Chr16:70265652 [GRCh38] Chr16:70299555 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1418T>C (p.Leu473Pro)	single nucleotide variant	Inborn genetic diseases [RCV003204123]	Chr16:70265032 [GRCh38] Chr16:70298935 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1159A>G (p.Ser387Gly)	single nucleotide variant	Inborn genetic diseases [RCV003194133]	Chr16:70267722 [GRCh38] Chr16:70301625 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2156C>G (p.Ser719Cys)	single nucleotide variant	not provided [RCV003139456]	Chr16:70258054 [GRCh38] Chr16:70291957 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.989G>A (p.Arg330Gln)	single nucleotide variant	Developmental and epileptic encephalopathy, 29 [RCV003448857]	Chr16:70268353 [GRCh38] Chr16:70302256 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.479+1G>T	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV003336696]	Chr16:70276485 [GRCh38] Chr16:70310388 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_001605.3(AARS1):c.1597T>C (p.Cys533Arg)	single nucleotide variant	Inborn genetic diseases [RCV003381713]	Chr16:70262420 [GRCh38] Chr16:70296323 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.204A>T (p.Arg68Ser)	single nucleotide variant	not provided [RCV003419390]	Chr16:70277095 [GRCh38] Chr16:70310998 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1642C>G (p.Leu548Val)	single nucleotide variant	Inborn genetic diseases [RCV003364305]	Chr16:70262375 [GRCh38] Chr16:70296278 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1151A>G (p.Lys384Arg)	single nucleotide variant	Inborn genetic diseases [RCV003352741]	Chr16:70267730 [GRCh38] Chr16:70301633 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2170G>A (p.Gly724Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003873470]	Chr16:70258040 [GRCh38] Chr16:70291943 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q22.1-22.3(chr16:69709450-73535741)x1	copy number loss	not provided [RCV003483292]	Chr16:69709450..73535741 [GRCh37] Chr16:16q22.1-22.3	pathogenic
GRCh37/hg19 16q22.1-22.2(chr16:70179556-71750471)x3	copy number gain	not provided [RCV003485119]	Chr16:70179556..71750471 [GRCh37] Chr16:16q22.1-22.2	uncertain significance
GRCh37/hg19 16q22.1(chr16:70305107-70594202)x3	copy number gain	not provided [RCV003485120]	Chr16:70305107..70594202 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1980dup (p.Glu661Ter)	duplication	Developmental and epileptic encephalopathy, 29 [RCV003479740]	Chr16:70258991..70258992 [GRCh38] Chr16:70292894..70292895 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.1555G>T (p.Val519Leu)	single nucleotide variant	AARS1-related disorder [RCV003400445]	Chr16:70262462 [GRCh38] Chr16:70296365 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1579G>A (p.Val527Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003826240]	Chr16:70262438 [GRCh38] Chr16:70296341 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1975A>C (p.Met659Leu)	single nucleotide variant	not provided [RCV003411386]	Chr16:70258997 [GRCh38] Chr16:70292900 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2607+44C>T	single nucleotide variant	not provided [RCV003419389]	Chr16:70253670 [GRCh38] Chr16:70287573 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1302G>C (p.Leu434=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003828075]	Chr16:70265583 [GRCh38] Chr16:70299486 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1523C>G (p.Ala508Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003829309]\|not provided [RCV003886647]	Chr16:70262494 [GRCh38] Chr16:70296397 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.555T>A (p.Gly185=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003829337]	Chr16:70271897 [GRCh38] Chr16:70305800 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2400+5G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003878492]	Chr16:70254616 [GRCh38] Chr16:70288519 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2607+14C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003830151]	Chr16:70253700 [GRCh38] Chr16:70287603 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1785+5G>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003878911]	Chr16:70261039 [GRCh38] Chr16:70294942 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1953G>A (p.Lys651=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003831230]	Chr16:70259019 [GRCh38] Chr16:70292922 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1492+10T>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003829397]	Chr16:70264948 [GRCh38] Chr16:70298851 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1071+15C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003824659]	Chr16:70268256 [GRCh38] Chr16:70302159 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.667A>G (p.Asn223Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003831234]	Chr16:70271785 [GRCh38] Chr16:70305688 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1861G>A (p.Glu621Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003877399]	Chr16:70259111 [GRCh38] Chr16:70293014 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.406A>G (p.Thr136Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003878921]	Chr16:70276559 [GRCh38] Chr16:70310462 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2045T>A (p.Leu682Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003879640]	Chr16:70258165 [GRCh38] Chr16:70292068 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2552_2553delinsAA (p.Ser851Lys)	indel	Charcot-Marie-Tooth disease type 2 [RCV003743082]	Chr16:70253768..70253769 [GRCh38] Chr16:70287671..70287672 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2092T>G (p.Ser698Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582798]	Chr16:70258118 [GRCh38] Chr16:70292021 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2818G>T (p.Ala940Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582853]	Chr16:70252810 [GRCh38] Chr16:70286713 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1591A>G (p.Lys531Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745228]	Chr16:70262426 [GRCh38] Chr16:70296329 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1613A>G (p.Gln538Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743184]	Chr16:70262404 [GRCh38] Chr16:70296307 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2070T>G (p.Tyr690Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582968]	Chr16:70258140 [GRCh38] Chr16:70292043 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.2577C>T (p.Ile859=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581529]	Chr16:70253744 [GRCh38] Chr16:70287647 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1334G>C (p.Arg445Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743171]	Chr16:70265551 [GRCh38] Chr16:70299454 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2112C>A (p.Ser704=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743269]	Chr16:70258098 [GRCh38] Chr16:70292001 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.682G>A (p.Gly228Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745273]	Chr16:70270330 [GRCh38] Chr16:70304233 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2713G>T (p.Val905Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582957]	Chr16:70253276 [GRCh38] Chr16:70287179 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.252C>T (p.Asp84=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582964]	Chr16:70277047 [GRCh38] Chr16:70310950 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1463A>T (p.Asn488Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743119]	Chr16:70264987 [GRCh38] Chr16:70298890 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1155T>G (p.Thr385=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745290]	Chr16:70267726 [GRCh38] Chr16:70301629 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.836A>C (p.Tyr279Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003583073]	Chr16:70269744 [GRCh38] Chr16:70303647 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1602C>T (p.Phe534=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743286]	Chr16:70262415 [GRCh38] Chr16:70296318 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1071+5G>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743334]	Chr16:70268266 [GRCh38] Chr16:70302169 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1125T>C (p.Ile375=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745243]	Chr16:70267756 [GRCh38] Chr16:70301659 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.147T>G (p.Phe49Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745617]\|not provided [RCV004765917]	Chr16:70277152 [GRCh38] Chr16:70311055 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1671+8_1671+15del	deletion	Charcot-Marie-Tooth disease type 2 [RCV003583074]	Chr16:70262331..70262338 [GRCh38] Chr16:70296234..70296241 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.672-5T>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003583118]\|not specified [RCV004783085]	Chr16:70270345 [GRCh38] Chr16:70304248 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.2608-14G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745700]	Chr16:70253395 [GRCh38] Chr16:70287298 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2642A>G (p.His881Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581949]	Chr16:70253347 [GRCh38] Chr16:70287250 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1254T>C (p.Tyr418=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581967]	Chr16:70265631 [GRCh38] Chr16:70299534 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2138C>T (p.Pro713Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743461]	Chr16:70258072 [GRCh38] Chr16:70291975 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.144+4A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745676]	Chr16:70282616 [GRCh38] Chr16:70316519 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2882T>C (p.Leu961Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581965]	Chr16:70252746 [GRCh38] Chr16:70286649 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1929C>T (p.Ala643=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582014]	Chr16:70259043 [GRCh38] Chr16:70292946 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.897T>C (p.Ala299=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745849]	Chr16:70269683 [GRCh38] Chr16:70303586 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.388A>G (p.Ile130Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743535]	Chr16:70276577 [GRCh38] Chr16:70310480 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1244A>C (p.Tyr415Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745879]	Chr16:70265641 [GRCh38] Chr16:70299544 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2400+8C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743513]	Chr16:70254613 [GRCh38] Chr16:70288516 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1377G>C (p.Gly459=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744062]	Chr16:70265073 [GRCh38] Chr16:70298976 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1600_1603del (p.Phe534fs)	deletion	Charcot-Marie-Tooth disease type 2 [RCV003582189]	Chr16:70262414..70262417 [GRCh38] Chr16:70296317..70296320 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.2177+11C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744071]	Chr16:70258022 [GRCh38] Chr16:70291925 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.110C>T (p.Pro37Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744119]	Chr16:70282654 [GRCh38] Chr16:70316557 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2241G>A (p.Lys747=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582300]	Chr16:70255773 [GRCh38] Chr16:70289676 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.923C>T (p.Ala308Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582334]	Chr16:70269657 [GRCh38] Chr16:70303560 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2201C>T (p.Ala734Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744205]	Chr16:70255813 [GRCh38] Chr16:70289716 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2008G>C (p.Asp670His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582341]	Chr16:70258202 [GRCh38] Chr16:70292105 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.11C>A (p.Thr4Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744212]	Chr16:70282753 [GRCh38] Chr16:70316656 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1736T>C (p.Ile579Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582363]	Chr16:70261093 [GRCh38] Chr16:70294996 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1939del (p.Gln647fs)	deletion	Charcot-Marie-Tooth disease type 2 [RCV003744229]	Chr16:70259033 [GRCh38] Chr16:70292936 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.817-3T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744275]	Chr16:70269766 [GRCh38] Chr16:70303669 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.826G>A (p.Ala276Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581099]	Chr16:70269754 [GRCh38] Chr16:70303657 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.672-15T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582272]	Chr16:70270355 [GRCh38] Chr16:70304258 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1493-15A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744289]	Chr16:70262539 [GRCh38] Chr16:70296442 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2099G>T (p.Gly700Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581133]	Chr16:70258111 [GRCh38] Chr16:70292014 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1029G>T (p.Arg343Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581148]	Chr16:70268313 [GRCh38] Chr16:70302216 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1875A>T (p.Lys625Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744329]	Chr16:70259097 [GRCh38] Chr16:70293000 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2608-18G>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581142]	Chr16:70253399 [GRCh38] Chr16:70287302 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2477T>C (p.Met826Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744398]	Chr16:70253962 [GRCh38] Chr16:70287865 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2721+12C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581218]	Chr16:70253256 [GRCh38] Chr16:70287159 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.108C>T (p.Asp36=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744446]	Chr16:70282656 [GRCh38] Chr16:70316559 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.377T>C (p.Phe126Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581247]	Chr16:70276588 [GRCh38] Chr16:70310491 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1192C>G (p.Gln398Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744513]	Chr16:70267689 [GRCh38] Chr16:70301592 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.672-19C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744412]	Chr16:70270359 [GRCh38] Chr16:70304262 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.144+12dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV003582526]	Chr16:70282607..70282608 [GRCh38] Chr16:70316510..70316511 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.816+20C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744449]	Chr16:70270176 [GRCh38] Chr16:70304079 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2494G>T (p.Ala832Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581209]	Chr16:70253945 [GRCh38] Chr16:70287848 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.906T>C (p.Ala302=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582680]	Chr16:70269674 [GRCh38] Chr16:70303577 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2722-9del	deletion	Charcot-Marie-Tooth disease type 2 [RCV003582603]	Chr16:70252915 [GRCh38] Chr16:70286818 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1033T>A (p.Phe345Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581355]	Chr16:70268309 [GRCh38] Chr16:70302212 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2814A>C (p.Ala938=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743088]	Chr16:70252814 [GRCh38] Chr16:70286717 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2402C>T (p.Ala801Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745035]	Chr16:70254037 [GRCh38] Chr16:70287940 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.250G>T (p.Asp84Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582755]	Chr16:70277049 [GRCh38] Chr16:70310952 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.510C>T (p.Asn170=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581399]	Chr16:70271942 [GRCh38] Chr16:70305845 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1348-20C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582665]	Chr16:70265122 [GRCh38] Chr16:70299025 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1496T>G (p.Phe499Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743113]\|Inborn genetic diseases [RCV004371844]	Chr16:70262521 [GRCh38] Chr16:70296424 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.144+12del	deletion	Charcot-Marie-Tooth disease type 2 [RCV003745260]	Chr16:70282608 [GRCh38] Chr16:70316511 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.834A>G (p.Pro278=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743264]\|not specified [RCV004701794]	Chr16:70269746 [GRCh38] Chr16:70303649 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2608-11C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744264]	Chr16:70253392 [GRCh38] Chr16:70287295 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.962+11T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744286]	Chr16:70269607 [GRCh38] Chr16:70303510 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1981G>A (p.Glu661Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003850410]	Chr16:70258991 [GRCh38] Chr16:70292894 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1785+10G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581511]	Chr16:70261034 [GRCh38] Chr16:70294937 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2728G>A (p.Ala910Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743271]	Chr16:70252900 [GRCh38] Chr16:70286803 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.695C>G (p.Pro232Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582992]	Chr16:70270317 [GRCh38] Chr16:70304220 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1827C>T (p.His609=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582459]	Chr16:70259145 [GRCh38] Chr16:70293048 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.499C>T (p.Leu167Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581166]	Chr16:70271953 [GRCh38] Chr16:70305856 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1174A>G (p.Ile392Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003583082]	Chr16:70267707 [GRCh38] Chr16:70301610 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2837G>T (p.Gly946Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745683]	Chr16:70252791 [GRCh38] Chr16:70286694 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2521-16G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743436]	Chr16:70253816 [GRCh38] Chr16:70287719 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1441A>C (p.Thr481Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745726]	Chr16:70265009 [GRCh38] Chr16:70298912 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2870C>A (p.Ser957Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581223]	Chr16:70252758 [GRCh38] Chr16:70286661 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.821C>G (p.Thr274Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744464]	Chr16:70269759 [GRCh38] Chr16:70303662 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.50T>C (p.Phe17Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744468]	Chr16:70282714 [GRCh38] Chr16:70316617 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1310A>G (p.Asp437Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581269]	Chr16:70265575 [GRCh38] Chr16:70299478 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1072-18T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743458]	Chr16:70267827 [GRCh38] Chr16:70301730 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2607+2C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743453]	Chr16:70253712 [GRCh38] Chr16:70287615 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1537A>G (p.Lys513Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745771]	Chr16:70262480 [GRCh38] Chr16:70296383 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.14dup (p.Thr6fs)	duplication	not provided [RCV003740631]	Chr16:70282749..70282750 [GRCh38] Chr16:70316652..70316653 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_001605.3(AARS1):c.1822A>T (p.Thr608Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581195]	Chr16:70259150 [GRCh38] Chr16:70293053 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.133G>C (p.Gly45Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744531]	Chr16:70282631 [GRCh38] Chr16:70316534 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1469A>G (p.His490Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745806]	Chr16:70264981 [GRCh38] Chr16:70298884 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1223-18C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582658]	Chr16:70265680 [GRCh38] Chr16:70299583 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2607+20C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745877]	Chr16:70253694 [GRCh38] Chr16:70287597 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.352G>C (p.Ala118Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003855009]	Chr16:70276613 [GRCh38] Chr16:70310516 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2149C>T (p.Leu717=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744052]	Chr16:70258061 [GRCh38] Chr16:70291964 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.617A>G (p.Gln206Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744066]	Chr16:70271835 [GRCh38] Chr16:70305738 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2071C>A (p.Pro691Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582725]	Chr16:70258139 [GRCh38] Chr16:70292042 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1776T>G (p.Phe592Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745066]	Chr16:70261053 [GRCh38] Chr16:70294956 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2724T>A (p.Asn908Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581381]	Chr16:70252904 [GRCh38] Chr16:70286807 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2257G>A (p.Val753Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581385]	Chr16:70255757 [GRCh38] Chr16:70289660 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2906G>C (p.Ter969Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581395]	Chr16:70252722 [GRCh38] Chr16:70286625 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2255T>C (p.Ile752Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745093]	Chr16:70255759 [GRCh38] Chr16:70289662 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.105T>C (p.Asp35=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745110]	Chr16:70282659 [GRCh38] Chr16:70316562 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1197C>T (p.Ser399=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745116]	Chr16:70267684 [GRCh38] Chr16:70301587 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.70A>T (p.Thr24Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744122]	Chr16:70282694 [GRCh38] Chr16:70316597 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1778T>C (p.Ile593Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003856254]	Chr16:70261051 [GRCh38] Chr16:70294954 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.612C>T (p.Val204=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582297]	Chr16:70271840 [GRCh38] Chr16:70305743 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.966T>A (p.Tyr322Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582875]	Chr16:70268376 [GRCh38] Chr16:70302279 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.1719G>A (p.Val573=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745121]	Chr16:70261110 [GRCh38] Chr16:70295013 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2202A>T (p.Ala734=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743196]	Chr16:70255812 [GRCh38] Chr16:70289715 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2352G>T (p.Gln784His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743406]	Chr16:70254669 [GRCh38] Chr16:70288572 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2118G>T (p.Leu706Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743469]	Chr16:70258092 [GRCh38] Chr16:70291995 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.390T>G (p.Ile130Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003583129]	Chr16:70276575 [GRCh38] Chr16:70310478 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1965T>C (p.Ile655=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743473]	Chr16:70259007 [GRCh38] Chr16:70292910 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1545C>T (p.Phe515=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743501]	Chr16:70262472 [GRCh38] Chr16:70296375 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1538A>G (p.Lys513Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743455]	Chr16:70262479 [GRCh38] Chr16:70296382 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1710A>G (p.Gly570=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743528]	Chr16:70261119 [GRCh38] Chr16:70295022 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1671+20T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745790]	Chr16:70262326 [GRCh38] Chr16:70296229 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1672-15C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743515]	Chr16:70261172 [GRCh38] Chr16:70295075 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.144+8T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743539]	Chr16:70282612 [GRCh38] Chr16:70316515 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1123A>G (p.Ile375Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003839913]	Chr16:70267758 [GRCh38] Chr16:70301661 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2286+8G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582177]	Chr16:70255720 [GRCh38] Chr16:70289623 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1072-12C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744234]	Chr16:70267821 [GRCh38] Chr16:70301724 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2586G>A (p.Met862Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744315]	Chr16:70253735 [GRCh38] Chr16:70287638 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.334-15C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581079]	Chr16:70276646 [GRCh38] Chr16:70310549 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.963-9C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003838556]	Chr16:70268388 [GRCh38] Chr16:70302291 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2867C>G (p.Thr956Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745075]	Chr16:70252761 [GRCh38] Chr16:70286664 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2223G>C (p.Thr741=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581310]	Chr16:70255791 [GRCh38] Chr16:70289694 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2521-11T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745076]	Chr16:70253811 [GRCh38] Chr16:70287714 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1877del (p.Gly626fs)	deletion	Charcot-Marie-Tooth disease type 2 [RCV003743097]	Chr16:70259095 [GRCh38] Chr16:70292998 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.942G>T (p.Arg314=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745194]	Chr16:70269638 [GRCh38] Chr16:70303541 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1200G>T (p.Leu400=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743185]	Chr16:70267681 [GRCh38] Chr16:70301584 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2177+9T>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582819]	Chr16:70258024 [GRCh38] Chr16:70291927 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.706A>G (p.Lys236Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745302]	Chr16:70270306 [GRCh38] Chr16:70304209 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1614A>C (p.Gln538His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745203]	Chr16:70262403 [GRCh38] Chr16:70296306 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.593G>A (p.Arg198Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003856333]	Chr16:70271859 [GRCh38] Chr16:70305762 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.817-11C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581479]	Chr16:70269774 [GRCh38] Chr16:70303677 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1458G>C (p.Lys486Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582984]	Chr16:70264992 [GRCh38] Chr16:70298895 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.962+8T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003583109]	Chr16:70269610 [GRCh38] Chr16:70303513 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2868T>G (p.Thr956=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582850]	Chr16:70252760 [GRCh38] Chr16:70286663 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1970A>T (p.Asn657Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582883]	Chr16:70259002 [GRCh38] Chr16:70292905 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.817-3dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV003743225]	Chr16:70269765..70269766 [GRCh38] Chr16:70303668..70303669 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1847G>T (p.Arg616Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581477]	Chr16:70259125 [GRCh38] Chr16:70293028 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2034C>T (p.Ala678=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582414]	Chr16:70258176 [GRCh38] Chr16:70292079 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1993-18G>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744308]	Chr16:70258235 [GRCh38] Chr16:70292138 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.277T>C (p.Tyr93His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582434]	Chr16:70277022 [GRCh38] Chr16:70310925 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2248C>A (p.Arg750=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003812012]	Chr16:70255766 [GRCh38] Chr16:70289669 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.126C>G (p.Ala42=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743354]	Chr16:70282638 [GRCh38] Chr16:70316541 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1382A>G (p.Asp461Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582998]	Chr16:70265068 [GRCh38] Chr16:70298971 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2838C>T (p.Gly946=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582545]	Chr16:70252790 [GRCh38] Chr16:70286693 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1657G>A (p.Asp553Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581211]	Chr16:70262360 [GRCh38] Chr16:70296263 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.68A>G (p.His23Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581968]	Chr16:70282696 [GRCh38] Chr16:70316599 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2545A>G (p.Ile849Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743443]	Chr16:70253776 [GRCh38] Chr16:70287679 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2287-7dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV003850079]	Chr16:70254740..70254741 [GRCh38] Chr16:70288643..70288644 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.1347+9C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744488]	Chr16:70265529 [GRCh38] Chr16:70299432 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2018T>A (p.Leu673Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743518]	Chr16:70258192 [GRCh38] Chr16:70292095 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.72G>C (p.Thr24=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582066]	Chr16:70282692 [GRCh38] Chr16:70316595 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1529G>T (p.Arg510Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581325]	Chr16:70262488 [GRCh38] Chr16:70296391 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.896C>T (p.Ala299Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581356]	Chr16:70269684 [GRCh38] Chr16:70303587 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.188T>A (p.Met63Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745088]	Chr16:70277111 [GRCh38] Chr16:70311014 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.636G>A (p.Leu212=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744084]	Chr16:70271816 [GRCh38] Chr16:70305719 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2287-10C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744092]	Chr16:70254744 [GRCh38] Chr16:70288647 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1299C>T (p.Gly433=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743135]	Chr16:70265586 [GRCh38] Chr16:70299489 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1140_1141delinsAT (p.Gln381Ter)	indel	Charcot-Marie-Tooth disease type 2 [RCV003743253]	Chr16:70267740..70267741 [GRCh38] Chr16:70301643..70301644 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.598G>A (p.Ala200Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003811240]\|not provided [RCV003886643]	Chr16:70271854 [GRCh38] Chr16:70305757 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.688C>T (p.Leu230=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745287]	Chr16:70270324 [GRCh38] Chr16:70304227 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2178-5T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582365]	Chr16:70255841 [GRCh38] Chr16:70289744 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1347+16A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743274]	Chr16:70265522 [GRCh38] Chr16:70299425 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.337T>C (p.Leu113=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581167]	Chr16:70276628 [GRCh38] Chr16:70310531 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.722G>C (p.Gly241Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744347]	Chr16:70270290 [GRCh38] Chr16:70304193 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.962+1G>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582466]	Chr16:70269617 [GRCh38] Chr16:70303520 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_001605.3(AARS1):c.1706G>A (p.Arg569Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582510]	Chr16:70261123 [GRCh38] Chr16:70295026 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.148A>G (p.Lys50Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744428]	Chr16:70277151 [GRCh38] Chr16:70311054 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1642C>T (p.Leu548=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582542]	Chr16:70262375 [GRCh38] Chr16:70296278 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1773G>A (p.Leu591=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003743486]	Chr16:70261056 [GRCh38] Chr16:70294959 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.9T>C (p.Ser3=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003855360]	Chr16:70282755 [GRCh38] Chr16:70316658 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2353A>G (p.Thr785Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744534]	Chr16:70254668 [GRCh38] Chr16:70288571 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2641C>T (p.His881Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582647]	Chr16:70253348 [GRCh38] Chr16:70287251 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1463A>G (p.Asn488Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745033]\|Inborn genetic diseases [RCV004374136]	Chr16:70264987 [GRCh38] Chr16:70298890 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2177+13del	deletion	Charcot-Marie-Tooth disease type 2 [RCV003581329]	Chr16:70258020 [GRCh38] Chr16:70291923 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.477G>A (p.Leu159=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003581330]	Chr16:70276488 [GRCh38] Chr16:70310391 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2822C>G (p.Thr941Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745134]	Chr16:70252806 [GRCh38] Chr16:70286709 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.145-17C>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003582006]	Chr16:70277171 [GRCh38] Chr16:70311074 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2400+8C>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003744114]	Chr16:70254613 [GRCh38] Chr16:70288516 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2339A>C (p.Lys780Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003836566]	Chr16:70254682 [GRCh38] Chr16:70288585 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1494A>G (p.Val498=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003864929]	Chr16:70262523 [GRCh38] Chr16:70296426 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.817-4A>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003865135]	Chr16:70269767 [GRCh38] Chr16:70303670 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1347+10T>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003865375]	Chr16:70265528 [GRCh38] Chr16:70299431 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.962+10C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003866394]	Chr16:70269608 [GRCh38] Chr16:70303511 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1348-17G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003818297]	Chr16:70265119 [GRCh38] Chr16:70299022 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1672-7C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003858202]	Chr16:70261164 [GRCh38] Chr16:70295067 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.380G>T (p.Gly127Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003861243]	Chr16:70276585 [GRCh38] Chr16:70310488 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.61A>G (p.Asn21Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003746001]	Chr16:70282703 [GRCh38] Chr16:70316606 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2607+12G>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745998]	Chr16:70253702 [GRCh38] Chr16:70287605 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2295G>A (p.Arg765=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003818528]	Chr16:70254726 [GRCh38] Chr16:70288629 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.81C>G (p.His27Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003868024]	Chr16:70282683 [GRCh38] Chr16:70316586 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1321T>C (p.Phe441Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003868160]\|not provided [RCV004780681]	Chr16:70265564 [GRCh38] Chr16:70299467 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.798C>T (p.Tyr266=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745983]	Chr16:70270214 [GRCh38] Chr16:70304117 [GRCh37] Chr16:16q22.1	likely benign
GRCh37/hg19 16q22.1(chr16:70180112-70650383)x3	copy number gain	not specified [RCV003987187]	Chr16:70180112..70650383 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1586T>C (p.Leu529Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003868117]	Chr16:70262431 [GRCh38] Chr16:70296334 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2720A>G (p.Gln907Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003871291]	Chr16:70253269 [GRCh38] Chr16:70287172 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1647G>A (p.Val549=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003868740]	Chr16:70262370 [GRCh38] Chr16:70296273 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1294A>C (p.Lys432Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745910]	Chr16:70265591 [GRCh38] Chr16:70299494 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.832C>T (p.Pro278Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745923]	Chr16:70269748 [GRCh38] Chr16:70303651 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1223-15C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003870310]	Chr16:70265677 [GRCh38] Chr16:70299580 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.156T>C (p.Ile52=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003819824]	Chr16:70277143 [GRCh38] Chr16:70311046 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.893T>A (p.Leu298Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003853757]	Chr16:70269687 [GRCh38] Chr16:70303590 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.671+18C>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003818698]	Chr16:70271763 [GRCh38] Chr16:70305666 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1837T>C (p.Phe613Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003745976]	Chr16:70259135 [GRCh38] Chr16:70293038 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.583A>G (p.Ile195Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003870805]	Chr16:70271869 [GRCh38] Chr16:70305772 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.691A>T (p.Lys231Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003845486]	Chr16:70270321 [GRCh38] Chr16:70304224 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.1993-16C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003853149]	Chr16:70258233 [GRCh38] Chr16:70292136 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1298G>C (p.Gly433Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003818273]	Chr16:70265587 [GRCh38] Chr16:70299490 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2751C>T (p.Ser917=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003819419]	Chr16:70252877 [GRCh38] Chr16:70286780 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2177+20A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003843298]	Chr16:70258013 [GRCh38] Chr16:70291916 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1417C>T (p.Leu473Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003822249]	Chr16:70265033 [GRCh38] Chr16:70298936 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2401-16C>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003842424]	Chr16:70254054 [GRCh38] Chr16:70287957 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1178T>A (p.Leu393Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003844864]\|not provided [RCV004767492]	Chr16:70267703 [GRCh38] Chr16:70301606 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.672-10G>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV003861543]	Chr16:70270350 [GRCh38] Chr16:70304253 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.673G>C (p.Glu225Gln)	single nucleotide variant	Trichothiodystrophy 8, nonphotosensitive [RCV003990408]	Chr16:70270339 [GRCh38] Chr16:70304242 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_001605.3(AARS1):c.2075A>T (p.Asp692Val)	single nucleotide variant	not provided [RCV003887110]	Chr16:70258135 [GRCh38] Chr16:70292038 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.596A>T (p.Asp199Val)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N [RCV003887844]	Chr16:70271856 [GRCh38] Chr16:70305759 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.543G>T (p.Thr181=)	single nucleotide variant	AARS1-related disorder [RCV003926834]	Chr16:70271909 [GRCh38] Chr16:70305812 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.584T>C (p.Ile195Thr)	single nucleotide variant	not provided [RCV004546201]	Chr16:70271868 [GRCh38] Chr16:70305771 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1594A>T (p.Thr532Ser)	single nucleotide variant	Inborn genetic diseases [RCV004426847]	Chr16:70262423 [GRCh38] Chr16:70296326 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1358A>G (p.Gln453Arg)	single nucleotide variant	Inborn genetic diseases [RCV004426514]	Chr16:70265092 [GRCh38] Chr16:70298995 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.397C>T (p.Leu133Phe)	single nucleotide variant	Inborn genetic diseases [RCV004432168]	Chr16:70276568 [GRCh38] Chr16:70310471 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.806C>A (p.Ala269Asp)	single nucleotide variant	Inborn genetic diseases [RCV004432316]	Chr16:70270206 [GRCh38] Chr16:70304109 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1153A>T (p.Thr385Ser)	single nucleotide variant	Inborn genetic diseases [RCV004434380]	Chr16:70267728 [GRCh38] Chr16:70301631 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.49T>G (p.Phe17Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005101968]\|not provided [RCV004585363]	Chr16:70282715 [GRCh38] Chr16:70316618 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1240C>A (p.Leu414Ile)	single nucleotide variant	not provided [RCV004588715]	Chr16:70265645 [GRCh38] Chr16:70299548 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2884C>T (p.Arg962Cys)	single nucleotide variant	not provided [RCV004585904]	Chr16:70252744 [GRCh38] Chr16:70286647 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2861T>A (p.Leu954Gln)	single nucleotide variant	Inborn genetic diseases [RCV004432001]	Chr16:70252767 [GRCh38] Chr16:70286670 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.38G>A (p.Arg13Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005104580]\|Inborn genetic diseases [RCV004432147]	Chr16:70282726 [GRCh38] Chr16:70316629 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2197C>T (p.His733Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004429742]	Chr16:70255817 [GRCh38] Chr16:70289720 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2605A>G (p.Lys869Glu)	single nucleotide variant	Inborn genetic diseases [RCV004431944]	Chr16:70253716 [GRCh38] Chr16:70287619 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.9:g.(?_70310369)_(70316666_?)del	deletion	Charcot-Marie-Tooth disease type 2 [RCV004582794]	Chr16:70310369..70316666 [GRCh37] Chr16:16q22.1	pathogenic
NC_000016.9:g.(?_70305664)_(70834803_?)dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV004582797]	Chr16:70305664..70834803 [GRCh37] Chr16:16q22.1-22.2	uncertain significance
NC_000016.9:g.(?_70289611)_(70293109_?)dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV004582798]	Chr16:70289611..70293109 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.9:g.(?_70310369)_(70311077_?)dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV004582800]	Chr16:70310369..70311077 [GRCh37] Chr16:16q22.1	likely pathogenic
NC_000016.9:g.(?_70301542)_(70301732_?)del	deletion	Charcot-Marie-Tooth disease type 2 [RCV004582793]	Chr16:70301542..70301732 [GRCh37] Chr16:16q22.1	pathogenic
NC_000016.9:g.(?_70286624)_(70304263_?)del	deletion	Charcot-Marie-Tooth disease type 2 [RCV004582795]	Chr16:70286624..70304263 [GRCh37] Chr16:16q22.1	pathogenic
NC_000016.9:g.(?_70286624)_(72146396_?)del	deletion	not provided [RCV004582883]	Chr16:70286624..72146396 [GRCh37] Chr16:16q22.1-22.2	pathogenic
NM_001605.3(AARS1):c.364C>G (p.Leu122Val)	single nucleotide variant	Inborn genetic diseases [RCV004602277]	Chr16:70276601 [GRCh38] Chr16:70310504 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.9:g.(?_70286200)_(70296428_70298860)del	deletion	not specified [RCV004586036]	Chr16:70286200..70296428 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.9:g.(?_68679283)_(72146396_?)del	deletion	Immunodeficiency [RCV004581539]	Chr16:68679283..72146396 [GRCh37] Chr16:16q22.1-22.2	uncertain significance
NM_001605.3(AARS1):c.1222+4G>A	single nucleotide variant	not specified [RCV004690823]	Chr16:70267655 [GRCh38] Chr16:70301558 [GRCh37] Chr16:16q22.1	uncertain significance
NC_000016.9:g.(?_48799549)_(70756330_?)dup	duplication	Chromosome 16q12 duplication syndrome [RCV004595820]	Chr16:48799549..70756330 [GRCh37] Chr16:16q12.1-22.1	likely pathogenic
NM_001605.3(AARS1):c.1572G>A (p.Glu524=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005102074]\|not provided [RCV004598726]	Chr16:70262445 [GRCh38] Chr16:70296348 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_001605.3(AARS1):c.333+5G>A	single nucleotide variant	not provided [RCV004576052]	Chr16:70276961 [GRCh38] Chr16:70310864 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.617A>C (p.Gln206Pro)	single nucleotide variant	not provided [RCV004778848]	Chr16:70271835 [GRCh38] Chr16:70305738 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2818G>A (p.Ala940Thr)	single nucleotide variant	not provided [RCV004766002]	Chr16:70252810 [GRCh38] Chr16:70286713 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2401-1G>A	single nucleotide variant	AARS1-related disorder [RCV004751075]	Chr16:70254039 [GRCh38] Chr16:70287942 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.519T>G (p.Asp173Glu)	single nucleotide variant	not provided [RCV004762468]		uncertain significance
NM_001605.3(AARS1):c.2111C>T (p.Ser704Phe)	single nucleotide variant	not provided [RCV004767923]	Chr16:70258099 [GRCh38] Chr16:70292002 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2416G>A (p.Val806Ile)	single nucleotide variant	not provided [RCV004778658]	Chr16:70254023 [GRCh38] Chr16:70287926 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.763A>T (p.Met255Leu)	single nucleotide variant	not provided [RCV004769120]	Chr16:70270249 [GRCh38] Chr16:70304152 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1883T>C (p.Leu628Ser)	single nucleotide variant	not provided [RCV004762392]		uncertain significance
NM_001605.3(AARS1):c.2083C>G (p.Arg695Gly)	single nucleotide variant	not provided [RCV004725784]	Chr16:70258127 [GRCh38] Chr16:70292030 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1993-1G>A	single nucleotide variant	Trichothiodystrophy 8, nonphotosensitive [RCV004764472]	Chr16:70258218 [GRCh38] Chr16:70292121 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_001605.3(AARS1):c.22A>G (p.Ser8Gly)	single nucleotide variant	not provided [RCV004719556]	Chr16:70282742 [GRCh38] Chr16:70316645 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1994C>T (p.Ala665Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005110047]\|Inborn genetic diseases [RCV004970057]	Chr16:70258216 [GRCh38] Chr16:70292119 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q21-24.1(chr16:62746020-84485022)x3	copy number gain	not provided [RCV004819314]	Chr16:62746020..84485022 [GRCh37] Chr16:16q21-24.1	pathogenic
NM_001605.3(AARS1):c.515A>C (p.Lys172Thr)	single nucleotide variant	Inborn genetic diseases [RCV004970130]	Chr16:70271937 [GRCh38] Chr16:70305840 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.896C>A (p.Ala299Asp)	single nucleotide variant	Inborn genetic diseases [RCV004970102]	Chr16:70269684 [GRCh38] Chr16:70303587 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1993-8T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005195390]	Chr16:70258225 [GRCh38] Chr16:70292128 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1274C>G (p.Thr425Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005066038]	Chr16:70265611 [GRCh38] Chr16:70299514 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1562C>T (p.Thr521Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005176190]	Chr16:70262455 [GRCh38] Chr16:70296358 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2128C>T (p.Pro710Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005196267]	Chr16:70258082 [GRCh38] Chr16:70291985 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1545C>G (p.Phe515Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005107033]	Chr16:70262472 [GRCh38] Chr16:70296375 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1084C>T (p.Pro362Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005145474]	Chr16:70267797 [GRCh38] Chr16:70301700 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2386G>A (p.Ala796Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005089132]	Chr16:70254635 [GRCh38] Chr16:70288538 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1864G>C (p.Ala622Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005145342]	Chr16:70259108 [GRCh38] Chr16:70293011 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.431C>G (p.Ala144Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005060526]	Chr16:70276534 [GRCh38] Chr16:70310437 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1703T>C (p.Val568Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005066425]	Chr16:70261126 [GRCh38] Chr16:70295029 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1076A>C (p.Asp359Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005146364]	Chr16:70267805 [GRCh38] Chr16:70301708 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.334-13_334-9del	deletion	Charcot-Marie-Tooth disease type 2 [RCV005175115]	Chr16:70276640..70276644 [GRCh38] Chr16:70310543..70310547 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.60G>A (p.Arg20=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005175114]	Chr16:70282704 [GRCh38] Chr16:70316607 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2686G>T (p.Ala896Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005122216]	Chr16:70253303 [GRCh38] Chr16:70287206 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.334-17C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005089116]	Chr16:70276648 [GRCh38] Chr16:70310551 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2636A>G (p.Lys879Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005195286]	Chr16:70253353 [GRCh38] Chr16:70287256 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.783C>T (p.Asp261=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005173236]	Chr16:70270229 [GRCh38] Chr16:70304132 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2368G>T (p.Asp790Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005172863]	Chr16:70254653 [GRCh38] Chr16:70288556 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1993G>A (p.Ala665Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005171719]	Chr16:70258217 [GRCh38] Chr16:70292120 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.129T>C (p.Asn43=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005065670]	Chr16:70282635 [GRCh38] Chr16:70316538 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1492+15T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005170938]	Chr16:70264943 [GRCh38] Chr16:70298846 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1149C>G (p.Leu383=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005084942]	Chr16:70267732 [GRCh38] Chr16:70301635 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2425C>T (p.Gln809Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005170698]	Chr16:70254014 [GRCh38] Chr16:70287917 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.743dup (p.Ser249fs)	duplication	Charcot-Marie-Tooth disease type 2 [RCV005060528]	Chr16:70270268..70270269 [GRCh38] Chr16:70304171..70304172 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.144+19T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005173699]	Chr16:70282601 [GRCh38] Chr16:70316504 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1628A>G (p.Tyr543Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005173747]	Chr16:70262389 [GRCh38] Chr16:70296292 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1347+13G>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005170556]	Chr16:70265525 [GRCh38] Chr16:70299428 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1411G>A (p.Glu471Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005066722]	Chr16:70265039 [GRCh38] Chr16:70298942 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.827C>T (p.Ala276Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005088004]	Chr16:70269753 [GRCh38] Chr16:70303656 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.112A>T (p.Thr38Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005122791]	Chr16:70282652 [GRCh38] Chr16:70316555 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2064G>C (p.Glu688Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005128786]	Chr16:70258146 [GRCh38] Chr16:70292049 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.573C>G (p.His191Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005132568]	Chr16:70271879 [GRCh38] Chr16:70305782 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2000A>G (p.Tyr667Cys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005155291]	Chr16:70258210 [GRCh38] Chr16:70292113 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.294C>T (p.Phe98=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005206547]	Chr16:70277005 [GRCh38] Chr16:70310908 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1085C>G (p.Pro362Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005190000]	Chr16:70267796 [GRCh38] Chr16:70301699 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1393C>A (p.Leu465Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005135790]	Chr16:70265057 [GRCh38] Chr16:70298960 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2037C>A (p.Ile679=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005190230]	Chr16:70258173 [GRCh38] Chr16:70292076 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.416G>A (p.Gly139Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005194060]	Chr16:70276549 [GRCh38] Chr16:70310452 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.137T>C (p.Met46Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005202795]	Chr16:70282627 [GRCh38] Chr16:70316530 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1484G>A (p.Gly495Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005122989]	Chr16:70264966 [GRCh38] Chr16:70298869 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2400+18C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005190484]	Chr16:70254603 [GRCh38] Chr16:70288506 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2740_2761del (p.Leu914fs)	deletion	Charcot-Marie-Tooth disease type 2 [RCV005124021]	Chr16:70252867..70252888 [GRCh38] Chr16:70286770..70286791 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1002del (p.Arg333_Tyr334insTer)	deletion	Charcot-Marie-Tooth disease type 2 [RCV005205957]	Chr16:70268340 [GRCh38] Chr16:70302243 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.2660C>T (p.Ala887Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005083225]	Chr16:70253329 [GRCh38] Chr16:70287232 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1954G>T (p.Ala652Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005202760]	Chr16:70259018 [GRCh38] Chr16:70292921 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.511A>G (p.Met171Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005181989]	Chr16:70271941 [GRCh38] Chr16:70305844 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2187G>A (p.Arg729=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005128717]	Chr16:70255827 [GRCh38] Chr16:70289730 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1567C>T (p.Gln523Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005135236]	Chr16:70262450 [GRCh38] Chr16:70296353 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.927G>A (p.Leu309=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005081433]	Chr16:70269653 [GRCh38] Chr16:70303556 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1074A>C (p.Gly358=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005108777]	Chr16:70267807 [GRCh38] Chr16:70301710 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1809C>T (p.Ser603=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005150161]	Chr16:70259163 [GRCh38] Chr16:70293066 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1223-12T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005153849]	Chr16:70265674 [GRCh38] Chr16:70299577 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2722-20dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV005157744]	Chr16:70252925..70252926 [GRCh38] Chr16:70286828..70286829 [GRCh37] Chr16:16q22.1	benign
NM_001605.3(AARS1):c.2726C>T (p.Ala909Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005138789]	Chr16:70252902 [GRCh38] Chr16:70286805 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.144G>C (p.Gln48His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005076613]	Chr16:70282620 [GRCh38] Chr16:70316523 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2842C>T (p.Leu948=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005133790]	Chr16:70252786 [GRCh38] Chr16:70286689 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2469G>A (p.Lys823=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005122636]	Chr16:70253970 [GRCh38] Chr16:70287873 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2874C>T (p.Phe958=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005183464]	Chr16:70252754 [GRCh38] Chr16:70286657 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.781G>C (p.Asp261His)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005135506]	Chr16:70270231 [GRCh38] Chr16:70304134 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.962+12G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005143219]	Chr16:70269606 [GRCh38] Chr16:70303509 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2721+20A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005083841]	Chr16:70253248 [GRCh38] Chr16:70287151 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1649A>C (p.Lys550Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005168205]	Chr16:70262368 [GRCh38] Chr16:70296271 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1886T>C (p.Val629Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005153377]	Chr16:70259086 [GRCh38] Chr16:70292989 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2126A>T (p.Asp709Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005166372]	Chr16:70258084 [GRCh38] Chr16:70291987 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2317T>C (p.Cys773Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005143847]	Chr16:70254704 [GRCh38] Chr16:70288607 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1492+7T>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005081937]	Chr16:70264951 [GRCh38] Chr16:70298854 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1347+19G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005119033]	Chr16:70265519 [GRCh38] Chr16:70299422 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2153C>G (p.Thr718Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005142233]	Chr16:70258057 [GRCh38] Chr16:70291960 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1506A>G (p.Thr502=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005144535]	Chr16:70262511 [GRCh38] Chr16:70296414 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2205A>T (p.Gly735=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005126504]	Chr16:70255809 [GRCh38] Chr16:70289712 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1127A>G (p.Asn376Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005182960]	Chr16:70267754 [GRCh38] Chr16:70301657 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2449G>A (p.Glu817Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005142887]	Chr16:70253990 [GRCh38] Chr16:70287893 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.939C>A (p.Gly313=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005206265]	Chr16:70269641 [GRCh38] Chr16:70303544 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1904G>C (p.Arg635Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005169722]	Chr16:70259068 [GRCh38] Chr16:70292971 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.392A>G (p.Glu131Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005143184]	Chr16:70276573 [GRCh38] Chr16:70310476 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2400G>T (p.Glu800Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005188225]	Chr16:70254621 [GRCh38] Chr16:70288524 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2607+10G>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005137597]	Chr16:70253704 [GRCh38] Chr16:70287607 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2130del (p.Ser711fs)	deletion	Charcot-Marie-Tooth disease type 2 [RCV005207055]	Chr16:70258080 [GRCh38] Chr16:70291983 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.2874C>G (p.Phe958Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005155182]	Chr16:70252754 [GRCh38] Chr16:70286657 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1671+19C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005139740]	Chr16:70262327 [GRCh38] Chr16:70296230 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.52T>G (p.Phe18Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005148751]	Chr16:70282712 [GRCh38] Chr16:70316615 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.333+9A>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005125300]	Chr16:70276957 [GRCh38] Chr16:70310860 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1355C>T (p.Ser452Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005117236]	Chr16:70265095 [GRCh38] Chr16:70298998 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1154C>T (p.Thr385Ile)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005139839]	Chr16:70267727 [GRCh38] Chr16:70301630 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.755A>G (p.Gln252Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005080134]	Chr16:70270257 [GRCh38] Chr16:70304160 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1622A>G (p.Gln541Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005137976]	Chr16:70262395 [GRCh38] Chr16:70296298 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1824G>T (p.Thr608=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005139935]	Chr16:70259148 [GRCh38] Chr16:70293051 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1992+6A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005082555]	Chr16:70258974 [GRCh38] Chr16:70292877 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.816+9G>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005084339]	Chr16:70270187 [GRCh38] Chr16:70304090 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1396G>A (p.Asp466Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005158215]	Chr16:70265054 [GRCh38] Chr16:70298957 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.723G>T (p.Gly241=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005208049]	Chr16:70270289 [GRCh38] Chr16:70304192 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2448G>C (p.Arg816=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005161183]	Chr16:70253991 [GRCh38] Chr16:70287894 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2157T>C (p.Ser719=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005139200]	Chr16:70258053 [GRCh38] Chr16:70291956 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2401-13C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005166383]	Chr16:70254051 [GRCh38] Chr16:70287954 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2899A>C (p.Lys967Gln)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005119917]	Chr16:70252729 [GRCh38] Chr16:70286632 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.127A>G (p.Asn43Asp)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005140258]	Chr16:70282637 [GRCh38] Chr16:70316540 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1493-2A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005165122]	Chr16:70262526 [GRCh38] Chr16:70296429 [GRCh37] Chr16:16q22.1	likely pathogenic
NM_001605.3(AARS1):c.737G>T (p.Arg246Leu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005156746]	Chr16:70270275 [GRCh38] Chr16:70304178 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.436T>C (p.Leu146=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005150210]	Chr16:70276529 [GRCh38] Chr16:70310432 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.955G>C (p.Gly319Arg)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005185704]	Chr16:70269625 [GRCh38] Chr16:70303528 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2667C>T (p.Leu889=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005082959]	Chr16:70253322 [GRCh38] Chr16:70287225 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2729C>G (p.Ala910Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005148163]	Chr16:70252899 [GRCh38] Chr16:70286802 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1538A>T (p.Lys513Met)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005077753]	Chr16:70262479 [GRCh38] Chr16:70296382 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2810C>T (p.Ser937Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005188156]	Chr16:70252818 [GRCh38] Chr16:70286721 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2287-12G>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005154842]	Chr16:70254746 [GRCh38] Chr16:70288649 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.479G>A (p.Gly160Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005181136]	Chr16:70276486 [GRCh38] Chr16:70310389 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1499A>G (p.Glu500Gly)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005127098]	Chr16:70262518 [GRCh38] Chr16:70296421 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1757G>A (p.Gly586Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005129577]	Chr16:70261072 [GRCh38] Chr16:70294975 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1539G>T (p.Lys513Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005125024]	Chr16:70262478 [GRCh38] Chr16:70296381 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2014C>T (p.Pro672Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005127311]	Chr16:70258196 [GRCh38] Chr16:70292099 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1819G>C (p.Ala607Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005114641]	Chr16:70259153 [GRCh38] Chr16:70293056 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2359C>G (p.Pro787Ala)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005155229]	Chr16:70254662 [GRCh38] Chr16:70288565 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1227C>T (p.Asp409=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005183821]	Chr16:70265658 [GRCh38] Chr16:70299561 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2259G>A (p.Val753=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005149499]	Chr16:70255755 [GRCh38] Chr16:70289658 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.137T>A (p.Met46Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005126379]	Chr16:70282627 [GRCh38] Chr16:70316530 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1785+10del	deletion	Charcot-Marie-Tooth disease type 2 [RCV005183884]	Chr16:70261034 [GRCh38] Chr16:70294937 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1786-3C>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005179387]	Chr16:70259189 [GRCh38] Chr16:70293092 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2722-13T>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005185359]	Chr16:70252919 [GRCh38] Chr16:70286822 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2792G>T (p.Gly931Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005202747]	Chr16:70252836 [GRCh38] Chr16:70286739 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1282A>T (p.Ile428Phe)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005202822]	Chr16:70265603 [GRCh38] Chr16:70299506 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1709G>T (p.Gly570Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005179590]	Chr16:70261120 [GRCh38] Chr16:70295023 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2447G>C (p.Arg816Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005151227]	Chr16:70253992 [GRCh38] Chr16:70287895 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1912T>G (p.Phe638Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005202762]	Chr16:70259060 [GRCh38] Chr16:70292963 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.1612C>A (p.Gln538Lys)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005202772]	Chr16:70262405 [GRCh38] Chr16:70296308 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.269A>C (p.Lys90Thr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005202792]	Chr16:70277030 [GRCh38] Chr16:70310933 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.53T>A (p.Phe18Tyr)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005202796]	Chr16:70282711 [GRCh38] Chr16:70316614 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.962+4A>C	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005108537]	Chr16:70269614 [GRCh38] Chr16:70303517 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.281A>C (p.His94Pro)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005124564]	Chr16:70277018 [GRCh38] Chr16:70310921 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.563G>A (p.Ser188Asn)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005202789]	Chr16:70271889 [GRCh38] Chr16:70305792 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2607+17G>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005130287]	Chr16:70253697 [GRCh38] Chr16:70287600 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1813del (p.His605fs)	deletion	Charcot-Marie-Tooth disease type 2 [RCV005122318]	Chr16:70259159 [GRCh38] Chr16:70293062 [GRCh37] Chr16:16q22.1	pathogenic
NM_001605.3(AARS1):c.1370C>T (p.Ala457Val)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005150164]	Chr16:70265080 [GRCh38] Chr16:70298983 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2431C>G (p.Gln811Glu)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005107388]	Chr16:70254008 [GRCh38] Chr16:70287911 [GRCh37] Chr16:16q22.1	uncertain significance
NM_001605.3(AARS1):c.2268A>C (p.Thr756=)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005149199]	Chr16:70255746 [GRCh38] Chr16:70289649 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.1786-17C>A	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV005176486]	Chr16:70259203 [GRCh38] Chr16:70293106 [GRCh37] Chr16:16q22.1	likely benign
NM_001605.3(AARS1):c.2906del (p.Asn968_Ter969insTer)	deletion	Charcot-Marie-Tooth disease type 2 [RCV005072067]	Chr16:70252722 [GRCh38] Chr16:70286625 [GRCh37] Chr16:16q22.1	likely benign

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	1697
Count of miRNA genes:	765
Interacting mature miRNAs:	884
Transcripts:	ENST00000261772, ENST00000564359, ENST00000565361, ENST00000566969, ENST00000567490, ENST00000569790, ENST00000569825
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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597349242	GWAS1445316_H	body mass index QTL GWAS1445316 (human)		1e-11	body mass index	body mass index (BMI) (CMO:0000105)	16	70282008	70282009	Human
597342987	GWAS1439061_H	osteoarthritis, knee, body mass index QTL GWAS1439061 (human)		2e-22	osteoarthritis, knee, body mass index	body mass index (BMI) (CMO:0000105)	16	70282008	70282009	Human
407248004	GWAS896980_H	body mass index QTL GWAS896980 (human)		9e-19	body mass index	body mass index (BMI) (CMO:0000105)	16	70269677	70269678	Human
597028417	GWAS1124491_H	body mass index QTL GWAS1124491 (human)		7e-14	body mass index	body mass index (BMI) (CMO:0000105)	16	70275334	70275335	Human
597285181	GWAS1381255_H	body weight QTL GWAS1381255 (human)		2e-10	body mass (VT:0001259)	body weight (CMO:0000012)	16	70282008	70282009	Human
597170061	GWAS1266135_H	valine measurement QTL GWAS1266135 (human)		2e-47	valine measurement	blood amino acid measurement (CMO:0003730)	16	70275334	70275335	Human
597328141	GWAS1424215_H	body mass index QTL GWAS1424215 (human)		9e-20	body mass index	body mass index (BMI) (CMO:0000105)	16	70282008	70282009	Human
597401313	GWAS1497387_H	caudate volume change measurement QTL GWAS1497387 (human)		0.000004	caudate volume change measurement		16	70258895	70258896	Human
407044703	GWAS693679_H	body mass index QTL GWAS693679 (human)		2e-13	body mass index	body mass index (BMI) (CMO:0000105)	16	70275334	70275335	Human
597299126	GWAS1395200_H	leucine measurement QTL GWAS1395200 (human)		1e-23	leucine measurement	blood amino acid measurement (CMO:0003730)	16	70275334	70275335	Human
597293732	GWAS1389806_H	valine measurement QTL GWAS1389806 (human)		2e-21	valine measurement	blood amino acid measurement (CMO:0003730)	16	70275334	70275335	Human
597147080	GWAS1243154_H	body mass index QTL GWAS1243154 (human)		3e-19	body mass index	body mass index (BMI) (CMO:0000105)	16	70282008	70282009	Human

Markers in Region

RH65736

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	70,310,916 - 70,311,044	UniSTS	GRCh37
Build 36	16	68,868,417 - 68,868,545	RGD	NCBI36
Celera	16	55,217,143 - 55,217,271	RGD
Cytogenetic Map	16	q22	UniSTS
HuRef	16	56,143,572 - 56,143,700	UniSTS
GeneMap99-GB4 RH Map	16	416.92	UniSTS
NCBI RH Map	16	543.8	UniSTS

D16S2972

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	70,286,202 - 70,286,453	UniSTS	GRCh37
Build 36	16	68,843,703 - 68,843,954	RGD	NCBI36
Celera	16	55,241,720 - 55,241,971	RGD
Cytogenetic Map	16	q22.1	UniSTS
Cytogenetic Map	16	q22	UniSTS
HuRef	16	56,119,363 - 56,119,614	UniSTS

A002L29

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	70,286,371 - 70,286,513	UniSTS	GRCh37
Build 36	16	68,843,872 - 68,844,014	RGD	NCBI36
Celera	16	55,241,660 - 55,241,802	RGD
Cytogenetic Map	16	q22.1	UniSTS
Cytogenetic Map	16	q22	UniSTS
HuRef	16	56,119,532 - 56,119,674	UniSTS
GeneMap99-GB4 RH Map	16	415.56	UniSTS

AARS__4231

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	70,286,207 - 70,286,792	UniSTS	GRCh37
Build 36	16	68,843,708 - 68,844,293	RGD	NCBI36
Celera	16	55,241,381 - 55,241,966	RGD
HuRef	16	56,119,368 - 56,119,953	UniSTS

RH66606

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	70,292,017 - 70,292,955	UniSTS	GRCh37
Celera	16	55,235,218 - 55,236,156	UniSTS
Cytogenetic Map	16	q22	UniSTS
HuRef	16	56,125,178 - 56,126,116	UniSTS
GeneMap99-GB4 RH Map	16	410.6	UniSTS
NCBI RH Map	16	508.6	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_023191	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001605	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047433666	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054379702	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_933220	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC009060	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC012184	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC093491	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK222824	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225116	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK299098	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK307782	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC011451	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG764123	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU178772	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471241	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D32050	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ591736	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000261772 ⟹ ENSP00000261772

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,298 - 70,289,506 (-)	Ensembl

Ensembl Acc Id:

ENST00000564359

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,255,442 - 70,289,557 (-)	Ensembl

Ensembl Acc Id:

ENST00000565361 ⟹ ENSP00000455360

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,307 - 70,289,557 (-)	Ensembl

Ensembl Acc Id:

ENST00000566969

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,262,473 - 70,265,515 (-)	Ensembl

Ensembl Acc Id:

ENST00000567490

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,259,024 - 70,261,413 (-)	Ensembl

Ensembl Acc Id:

ENST00000569790

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,259,036 - 70,267,796 (-)	Ensembl

Ensembl Acc Id:

ENST00000569825

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,310 - 70,255,133 (-)	Ensembl

Ensembl Acc Id:

ENST00000674512 ⟹ ENSP00000501613

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,305 - 70,289,555 (-)	Ensembl

Ensembl Acc Id:

ENST00000674652 ⟹ ENSP00000502620

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,305 - 70,289,555 (-)	Ensembl

Ensembl Acc Id:

ENST00000674691 ⟹ ENSP00000502247

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,270 - 70,289,707 (-)	Ensembl

Ensembl Acc Id:

ENST00000674768 ⟹ ENSP00000501679

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,310 - 70,289,555 (-)	Ensembl

Ensembl Acc Id:

ENST00000674811 ⟹ ENSP00000502055

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,305 - 70,289,555 (-)	Ensembl

Ensembl Acc Id:

ENST00000674848

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,310 - 70,289,557 (-)	Ensembl

Ensembl Acc Id:

ENST00000674962

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,310 - 70,289,557 (-)	Ensembl

Ensembl Acc Id:

ENST00000674963 ⟹ ENSP00000501924

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,251,983 - 70,289,580 (-)	Ensembl

Ensembl Acc Id:

ENST00000675035 ⟹ ENSP00000502712

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,305 - 70,289,557 (-)	Ensembl

Ensembl Acc Id:

ENST00000675045 ⟹ ENSP00000502014

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,305 - 70,289,557 (-)	Ensembl

Ensembl Acc Id:

ENST00000675120 ⟹ ENSP00000502823

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,305 - 70,289,555 (-)	Ensembl

Ensembl Acc Id:

ENST00000675133 ⟹ ENSP00000502230

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,305 - 70,289,555 (-)	Ensembl

Ensembl Acc Id:

ENST00000675155

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,279,409 - 70,289,506 (-)	Ensembl

Ensembl Acc Id:

ENST00000675270

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,303 - 70,279,323 (-)	Ensembl

Ensembl Acc Id:

ENST00000675297 ⟹ ENSP00000502753

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,310 - 70,289,555 (-)	Ensembl

Ensembl Acc Id:

ENST00000675338

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,264,804 - 70,289,555 (-)	Ensembl

Ensembl Acc Id:

ENST00000675371 ⟹ ENSP00000502645

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,310 - 70,289,557 (-)	Ensembl

Ensembl Acc Id:

ENST00000675403

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,305 - 70,289,557 (-)	Ensembl

Ensembl Acc Id:

ENST00000675569 ⟹ ENSP00000502534

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,303 - 70,289,557 (-)	Ensembl

Ensembl Acc Id:

ENST00000675588

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,307 - 70,255,185 (-)	Ensembl

Ensembl Acc Id:

ENST00000675643 ⟹ ENSP00000502797

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,251,983 - 70,289,317 (-)	Ensembl

Ensembl Acc Id:

ENST00000675691 ⟹ ENSP00000502196

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,303 - 70,289,547 (-)	Ensembl

Ensembl Acc Id:

ENST00000675751 ⟹ ENSP00000502277

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,310 - 70,289,547 (-)	Ensembl

Ensembl Acc Id:

ENST00000675853 ⟹ ENSP00000502367

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,307 - 70,289,557 (-)	Ensembl

Ensembl Acc Id:

ENST00000675917

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,028 - 70,279,340 (-)	Ensembl

Ensembl Acc Id:

ENST00000675953 ⟹ ENSP00000502321

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,303 - 70,289,547 (-)	Ensembl

Ensembl Acc Id:

ENST00000675986

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,310 - 70,289,557 (-)	Ensembl

Ensembl Acc Id:

ENST00000676004 ⟹ ENSP00000502765

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,303 - 70,289,532 (-)	Ensembl

Ensembl Acc Id:

ENST00000676040 ⟹ ENSP00000502108

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,303 - 70,289,547 (-)	Ensembl

Ensembl Acc Id:

ENST00000676065

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,254,269 - 70,256,330 (-)	Ensembl

Ensembl Acc Id:

ENST00000676168 ⟹ ENSP00000502479

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,305 - 70,289,557 (-)	Ensembl

Ensembl Acc Id:

ENST00000676209 ⟹ ENSP00000502052

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,303 - 70,289,555 (-)	Ensembl

Ensembl Acc Id:

ENST00000676211 ⟹ ENSP00000502726

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,303 - 70,289,547 (-)	Ensembl

Ensembl Acc Id:

ENST00000676212 ⟹ ENSP00000501853

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,305 - 70,289,557 (-)	Ensembl

Ensembl Acc Id:

ENST00000676247 ⟹ ENSP00000502699

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	70,252,310 - 70,289,579 (-)	Ensembl

RefSeq Acc Id:

NM_001605 ⟹ NP_001596

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	70,252,298 - 70,289,506 (-)	NCBI
GRCh37	16	70,286,198 - 70,323,452 (-)	NCBI
Build 36	16	68,843,798 - 68,880,913 (-)	NCBI Archive
HuRef	16	56,119,458 - 56,156,083 (-)	ENTREZGENE
CHM1_1	16	71,693,759 - 71,730,869 (-)	NCBI
T2T-CHM13v2.0	16	76,063,291 - 76,100,495 (-)	NCBI

Sequence:

show sequence

ACAGCTGCGCGTCTGCGGGAATAGGTGCAGCGGGCCCTTGGCGGGGGACTCTGAGGGAGGAGCT
GGGGACGGCGACCCTAGGAGAGTTCTTTGGGGTGACTTTCAAGATGGACTCTACTCTAACAGCA
AGTGAAATCCGGCAGCGATTTATAGATTTCTTCAAGAGGAACGAGCATACGTATGTTCACTCGT
CTGCCACCATCCCATTGGATGACCCCACTTTGCTCTTTGCCAATGCAGGCATGAACCAGTTTAA
ACCCATTTTCCTGAACACAATTGACCCATCTCACCCCATGGCAAAGCTGAGCAGAGCTGCCAAT
ACCCAGAAGTGCATCCGGGCTGGGGGCAAACATAATGACCTGGACGATGTGGGCAAGGATGTCT
ATCATCACACCTTCTTCGAGATGCTGGGCTCTTGGTCTTTTGGAGATTACTTTAAGGAATTGGC
ATGTAAGATGGCTCTGGAACTCCTCACCCAAGAGTTTGGCATTCCCATTGAAAGACTTTATGTT
ACTTACTTTGGCGGGGATGAAGCAGCTGGCTTAGAAGCAGATCTGGAATGCAAACAGATCTGGC
AAAATTTGGGGCTGGATGACACCAAAATCCTCCCAGGCAACATGAAGGATAACTTCTGGGAGAT
GGGTGACACGGGCCCCTGTGGTCCTTGCAGTGAGATCCACTACGACCGGATTGGTGGTCGGGAC
GCCGCACATCTTGTCAACCAGGACGACCCTAATGTGCTGGAGATCTGGAACCTTGTGTTCATCC
AGTATAACAGGGAAGCTGATGGCATTCTGAAACCTCTTCCCAAGAAAAGCATTGACACAGGGAT
GGGCCTGGAACGACTGGTATCTGTGCTGCAGAATAAGATGTCCAACTATGACACTGACCTTTTT
GTCCCTTACTTTGAAGCCATTCAGAAGGGCACAGGTGCCCGACCATACACTGGGAAAGTTGGTG
CTGAGGATGCCGATGGGATTGACATGGCCTACCGGGTGCTGGCTGACCACGCTCGGACCATCAC
TGTGGCACTGGCTGATGGTGGCCGGCCTGACAACACAGGGCGTGGATATGTGTTGAGACGGATT
CTCCGCCGAGCTGTCCGATACGCCCATGAAAAGCTCAATGCCAGCAGGGGCTTCTTTGCTACGT
TAGTGGATGTTGTCGTCCAGTCCCTGGGAGATGCATTTCCTGAGCTGAAGAAGGACCCAGACAT
GGTGAAGGACATCATTAATGAAGAAGAGGTGCAGTTTCTCAAGACTCTCAGCAGAGGGCGTCGC
ATCCTGGACAGGAAAATTCAGAGCCTGGGAGACAGCAAGACCATTCCCGGAGACACTGCTTGGC
TCCTCTATGACACCTATGGGTTTCCAGTGGATCTGACTGGACTGATTGCTGAAGAGAAGGGCCT
GGTGGTAGACATGGATGGCTTTGAAGAGGAGAGGAAACTGGCCCAGCTGAAATCACAGGGCAAG
GGAGCTGGTGGGGAAGACCTCATTATGCTGGACATTTACGCTATCGAAGAGCTCCGGGCACGGG
GTCTGGAGGTCACAGATGATTCCCCAAAGTACAATTACCATTTGGACTCCAGTGGTAGCTATGT
ATTTGAGAACACAGTGGCTACGGTGATGGCTCTGCGCAGGGAGAAGATGTTCGTGGAAGAGGTG
TCCACAGGCCAGGAGTGTGGAGTGGTGCTGGACAAGACCTGTTTCTATGCTGAGCAAGGAGGCC
AGATCTATGACGAAGGCTACCTGGTGAAGGTGGATGACAGCAGTGAAGATAAAACAGAGTTTAC
AGTGAAGAATGCTCAGGTCCGAGGAGGGTATGTGCTACACATTGGAACCATCTACGGTGACCTG
AAAGTGGGGGATCAGGTCTGGCTGTTTATTGATGAGCCCCGACGAAGACCCATCATGAGCAACC
ACACAGCTACGCACATTCTGAACTTCGCCCTGCGCTCAGTGCTTGGGGAAGCTGACCAGAAAGG
CTCATTGGTTGCTCCTGACCGCCTCAGATTTGACTTTACTGCCAAGGGAGCCATGTCCACCCAA
CAGATCAAGAAGGCTGAAGAGATTGCTAATGAGATGATTGAGGCAGCCAAGGCCGTCTATACCC
AGGATTGCCCCCTGGCAGCAGCGAAAGCCATCCAGGGCCTACGGGCTGTGTTTGATGAGACCTA
TCCTGACCCTGTGCGAGTCGTCTCCATTGGGGTCCCGGTGTCCGAGTTGCTGGATGACCCCTCT
GGGCCTGCTGGCTCCCTGACTTCTGTTGAGTTCTGTGGGGGAACGCACCTGCGGAACTCGAGTC
ATGCAGGAGCTTTTGTGATCGTGACGGAAGAAGCCATTGCCAAGGGTATCCGGAGGATTGTGGC
TGTCACAGGTGCCGAGGCCCAGAAGGCCCTCAGGAAAGCAGAGAGCTTGAAGAAATGTCTCTCT
GTCATGGAAGCCAAAGTGAAGGCTCAGACTGCTCCAAACAAGGATGTGCAGAGGGAGATCGCTG
ACCTTGGAGAGGCCCTGGCCACTGCAGTCATCCCCCAGTGGCAGAAGGATGAATTGCGGGAGAC
TCTCAAATCCCTAAAGAAGGTCATGGATGACTTGGACCGAGCCAGCAAAGCCGATGTCCAGAAA
CGAGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGG
AGATGGAGAGCGGCGCCTCAGCCAAGGCCCTGAATGAAGCCTTGAAGCTCTTCAAGATGCACTC
CCCTCAGACTTCTGCCATGCTCTTCACGGTGGACAATGAGGCTGGCAAGATCACGTGCCTGTGT
CAAGTTCCCCAGAATGCAGCCAATCGGGGCTTAAAAGCCAGCGAGTGGGTGCAGCAGGTGTCAG
GCTTGATGGACGGTAAAGGTGGTGGCAAGGATGTGTCTGCACAGGCCACAGGCAAGAACGTTGG
CTGCCTGCAGGAGGCGCTGCAGCTGGCCACTTCCTTCGCCCAGCTGCGCCTCGGGGATGTAAAG
AACTGAGTGGGGAAGGAGGAGGCTCCCACTGGATCCATCCGTCCAGCCAAGAGCTCTTCATCTG
CTACAAGAACATTTGAATCTTGGGACCTTTAAAGAGCCCCTCCTAACCCAGCAGTAACTGGAAC
ACACTTGGGAGCAGTCCTATGTCTCAGTGCCCCTTAAATTTCTGCCCTGAGCCCTCCACGTCAG
TGCCATCGGTCTAGAACCACTAACCCCGCATTGCTGTTGATCGTCACGCTCGCATCTATAGATA
ACGGCTCTCCAGACCTGAGCTTTCCGCGTCAGCAAGTAGGAATCGTTTTTGCTGCAGAGAATAA
AAGGACCACGTGCAATACTTAATGCCGCATGATCTCTATCCCTCTTCCCAATAGGGGCTGGCTC
TTTTGACAGCCTTTGGCGTCTGTAGAATAAATGCTGTGGCTCCTG

hide sequence

RefSeq Acc Id:

XM_047433666 ⟹ XP_047289622

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	70,254,621 - 70,289,506 (-)	NCBI

RefSeq Acc Id:

XM_054379702 ⟹ XP_054235677

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	16	76,065,614 - 76,100,495 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001596	(Get FASTA)	NCBI Sequence Viewer
	XP_047289622	(Get FASTA)	NCBI Sequence Viewer
	XP_054235677	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH11451	(Get FASTA)	NCBI Sequence Viewer
	BAA06808	(Get FASTA)	NCBI Sequence Viewer
	BAD96544	(Get FASTA)	NCBI Sequence Viewer
	BAG61157	(Get FASTA)	NCBI Sequence Viewer
	EAW51838	(Get FASTA)	NCBI Sequence Viewer
	EAW51839	(Get FASTA)	NCBI Sequence Viewer
	EAW51840	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000261772
	ENSP00000261772.8
	ENSP00000455360.3
	ENSP00000501613.1
	ENSP00000501679.1
	ENSP00000501853.1
	ENSP00000501924.1
	ENSP00000502014.1
	ENSP00000502052.1
	ENSP00000502055.1
	ENSP00000502108.1
	ENSP00000502196.1
	ENSP00000502230.1
	ENSP00000502247.1
	ENSP00000502277.1
	ENSP00000502321.1
	ENSP00000502367.1
	ENSP00000502479
	ENSP00000502479.1
	ENSP00000502534.1
	ENSP00000502620.1
	ENSP00000502645.1
	ENSP00000502699.1
	ENSP00000502712.1
	ENSP00000502726.1
	ENSP00000502753.1
	ENSP00000502765.1
	ENSP00000502797.1
	ENSP00000502823.1
GenBank Protein	P49588	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001596 ⟸ NM_001605

- UniProtKB:

Q53GV7 (UniProtKB/Swiss-Prot), B4DR45 (UniProtKB/Swiss-Prot), A6NF14 (UniProtKB/Swiss-Prot), Q96FA0 (UniProtKB/Swiss-Prot), P49588 (UniProtKB/Swiss-Prot), A0A6Q8PF33 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MDSTLTASEIRQRFIDFFKRNEHTYVHSSATIPLDDPTLLFANAGMNQFKPIFLNTIDPSHPMA
KLSRAANTQKCIRAGGKHNDLDDVGKDVYHHTFFEMLGSWSFGDYFKELACKMALELLTQEFGI
PIERLYVTYFGGDEAAGLEADLECKQIWQNLGLDDTKILPGNMKDNFWEMGDTGPCGPCSEIHY
DRIGGRDAAHLVNQDDPNVLEIWNLVFIQYNREADGILKPLPKKSIDTGMGLERLVSVLQNKMS
NYDTDLFVPYFEAIQKGTGARPYTGKVGAEDADGIDMAYRVLADHARTITVALADGGRPDNTGR
GYVLRRILRRAVRYAHEKLNASRGFFATLVDVVVQSLGDAFPELKKDPDMVKDIINEEEVQFLK
TLSRGRRILDRKIQSLGDSKTIPGDTAWLLYDTYGFPVDLTGLIAEEKGLVVDMDGFEEERKLA
QLKSQGKGAGGEDLIMLDIYAIEELRARGLEVTDDSPKYNYHLDSSGSYVFENTVATVMALRRE
KMFVEEVSTGQECGVVLDKTCFYAEQGGQIYDEGYLVKVDDSSEDKTEFTVKNAQVRGGYVLHI
GTIYGDLKVGDQVWLFIDEPRRRPIMSNHTATHILNFALRSVLGEADQKGSLVAPDRLRFDFTA
KGAMSTQQIKKAEEIANEMIEAAKAVYTQDCPLAAAKAIQGLRAVFDETYPDPVRVVSIGVPVS
ELLDDPSGPAGSLTSVEFCGGTHLRNSSHAGAFVIVTEEAIAKGIRRIVAVTGAEAQKALRKAE
SLKKCLSVMEAKVKAQTAPNKDVQREIADLGEALATAVIPQWQKDELRETLKSLKKVMDDLDRA
SKADVQKRVLEKTKQFIDSNPNQPLVILEMESGASAKALNEALKLFKMHSPQTSAMLFTVDNEA
GKITCLCQVPQNAANRGLKASEWVQQVSGLMDGKGGGKDVSAQATGKNVGCLQEALQLATSFAQ
LRLGDVKN

hide sequence

Ensembl Acc Id:

ENSP00000261772 ⟸ ENST00000261772

Ensembl Acc Id:

ENSP00000455360 ⟸ ENST00000565361

Ensembl Acc Id:

ENSP00000501613 ⟸ ENST00000674512

Ensembl Acc Id:

ENSP00000501924 ⟸ ENST00000674963

Ensembl Acc Id:

ENSP00000502055 ⟸ ENST00000674811

Ensembl Acc Id:

ENSP00000501679 ⟸ ENST00000674768

Ensembl Acc Id:

ENSP00000502247 ⟸ ENST00000674691

Ensembl Acc Id:

ENSP00000502620 ⟸ ENST00000674652

Ensembl Acc Id:

ENSP00000502367 ⟸ ENST00000675853

Ensembl Acc Id:

ENSP00000502277 ⟸ ENST00000675751

Ensembl Acc Id:

ENSP00000502196 ⟸ ENST00000675691

Ensembl Acc Id:

ENSP00000502797 ⟸ ENST00000675643

Ensembl Acc Id:

ENSP00000502534 ⟸ ENST00000675569

Ensembl Acc Id:

ENSP00000502321 ⟸ ENST00000675953

Ensembl Acc Id:

ENSP00000502645 ⟸ ENST00000675371

Ensembl Acc Id:

ENSP00000502753 ⟸ ENST00000675297

Ensembl Acc Id:

ENSP00000502230 ⟸ ENST00000675133

Ensembl Acc Id:

ENSP00000502823 ⟸ ENST00000675120

Ensembl Acc Id:

ENSP00000502712 ⟸ ENST00000675035

Ensembl Acc Id:

ENSP00000502014 ⟸ ENST00000675045

Ensembl Acc Id:

ENSP00000502699 ⟸ ENST00000676247

Ensembl Acc Id:

ENSP00000502052 ⟸ ENST00000676209

Ensembl Acc Id:

ENSP00000502726 ⟸ ENST00000676211

Ensembl Acc Id:

ENSP00000501853 ⟸ ENST00000676212

Ensembl Acc Id:

ENSP00000502479 ⟸ ENST00000676168

Ensembl Acc Id:

ENSP00000502108 ⟸ ENST00000676040

Ensembl Acc Id:

ENSP00000502765 ⟸ ENST00000676004

RefSeq Acc Id:	XP_047289622 ⟸ XM_047433666
- Peptide Label:	isoform X1
- UniProtKB:	A0A6Q8PHJ2 (UniProtKB/TrEMBL), A0A6Q8PH44 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054235677 ⟸ XM_054379702
- Peptide Label:	isoform X1
- UniProtKB:	A0A6Q8PHJ2 (UniProtKB/TrEMBL), A0A6Q8PH44 (UniProtKB/TrEMBL)

Protein Domains

Alanyl-transfer RNA synthetases family profile Alanyl-tRNA synthetase class IIc N-terminal

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P49588-F1-model_v2	AlphaFold	P49588	1-968	view protein structure

Promoters

RGD ID:

6792732

Promoter ID:

HG_KWN:24152

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:

NM_001605

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	68,880,476 - 68,880,976 (-)	MPROMDB

RGD ID:

6853266

Promoter ID:

EP74454

Type:

initiation region

Name:

HS_AARS

Description:

Alanyl-tRNA synthetase.

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Mammalian gene collection (MGC) full-length cDNA cloning

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	68,880,886 - 68,880,946	EPD

RGD ID:

7232727

Promoter ID:

EPDNEW_H22110

Type:

initiation region

Name:

AARS_1

Description:

alanyl-tRNA synthetase

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	70,289,506 - 70,289,566	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:20	AgrOrtholog
COSMIC	AARS1	COSMIC
Ensembl Genes	ENSG00000090861	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000261772	ENTREZGENE
	ENST00000261772.13	UniProtKB/Swiss-Prot
	ENST00000565361.3	UniProtKB/TrEMBL
	ENST00000674512.1	UniProtKB/TrEMBL
	ENST00000674652.1	UniProtKB/TrEMBL
	ENST00000674691.1	UniProtKB/Swiss-Prot
	ENST00000674768.1	UniProtKB/TrEMBL
	ENST00000674811.1	UniProtKB/TrEMBL
	ENST00000674963.1	UniProtKB/Swiss-Prot
	ENST00000675035.1	UniProtKB/TrEMBL
	ENST00000675045.1	UniProtKB/TrEMBL
	ENST00000675120.1	UniProtKB/TrEMBL
	ENST00000675133.1	UniProtKB/TrEMBL
	ENST00000675297.1	UniProtKB/TrEMBL
	ENST00000675371.1	UniProtKB/TrEMBL
	ENST00000675569.1	UniProtKB/TrEMBL
	ENST00000675643.1	UniProtKB/Swiss-Prot
	ENST00000675691.1	UniProtKB/TrEMBL
	ENST00000675751.1	UniProtKB/TrEMBL
	ENST00000675853.1	UniProtKB/TrEMBL
	ENST00000675953.1	UniProtKB/TrEMBL
	ENST00000676004.1	UniProtKB/TrEMBL
	ENST00000676040.1	UniProtKB/TrEMBL
	ENST00000676168	ENTREZGENE
	ENST00000676168.1	UniProtKB/TrEMBL
	ENST00000676209.1	UniProtKB/TrEMBL
	ENST00000676211.1	UniProtKB/TrEMBL
	ENST00000676212.1	UniProtKB/TrEMBL
	ENST00000676247.1	UniProtKB/TrEMBL
Gene3D-CATH	2.40.30.130	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.10.310.40	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Bira Bifunctional Protein, Domain 2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Threonyl-trna Synthetase, Chain A, domain 2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000090861	GTEx
HGNC ID	HGNC:20	ENTREZGENE
Human Proteome Map	AARS1	Human Proteome Map
InterPro	aa-tRNA-synth_II/BPL/LPL	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ala-tRNA-lgiase_IIc	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ala-tRNA-ligase_IIc_anticod-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ala-tRNA-synth_IIc_core	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ala-tRNA-synth_IIc_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ala-tRNA_ligase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ala_tRNA_ligase_euk/bac	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	DHHA1_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Thr/Ala-tRNA-synth_IIc_edit	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Transl_B-barrel_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	tRNA_SAD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:16	UniProtKB/Swiss-Prot
NCBI Gene	16	ENTREZGENE
OMIM	601065	OMIM
PANTHER	ALANINE--TRNA LIGASE, CYTOPLASMIC	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ALANYL-TRNA SYNTHETASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	DHHA1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	tRNA-synt_2c	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	tRNA_SAD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA24367	PharmGKB
PRINTS	TRNASYNTHALA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	AA_TRNA_LIGASE_II_ALA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	tRNA_SAD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF101353	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF50447	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF55186	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF55681	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A6Q8PF33	ENTREZGENE, UniProtKB/TrEMBL
	A0A6Q8PF77_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PFK3_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PFY2_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PG28_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PG62_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PGB5_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PGE8_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PGI8_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PGN5_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PGR9_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PH44	ENTREZGENE, UniProtKB/TrEMBL
	A0A6Q8PHJ2	ENTREZGENE, UniProtKB/TrEMBL
	A0A6Q8PHN5_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PHP3_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PHP7_HUMAN	UniProtKB/TrEMBL
	A6NF14	ENTREZGENE
	B4DR45	ENTREZGENE
	H3BPK7_HUMAN	UniProtKB/TrEMBL
	P49588	ENTREZGENE
	Q53GV7	ENTREZGENE
	Q96FA0	ENTREZGENE
	SYAC_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	A6NF14	UniProtKB/Swiss-Prot
	B4DR45	UniProtKB/Swiss-Prot
	Q53GV7	UniProtKB/Swiss-Prot
	Q96FA0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-07-23	AARS1	alanyl-tRNA synthetase 1	AARS	alanyl-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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar