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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Charcot-Marie-Tooth Disease (D002607)
..Starting node ..Charcot-Marie-Tooth Disease, Axonal, Type 2n (C567653)
Child Nodes:
Sister Nodes:
..Charcot Marie Tooth type 1 aplasia cutis congenita (C538077)
..Charcot-Marie-Tooth disease and deafness (C538078)
..Charcot-Marie-Tooth disease with ptosis and parkinsonism (C538079)
..Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k (C564325)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
..Charcot-Marie-Tooth Disease, Axonal, Type 2a1 (C566138)
..Charcot-Marie-Tooth Disease, Axonal, Type 2A2 (C563757) L: 00488;
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC (OMIM:616924)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (OMIM:608673)
..Charcot-Marie-Tooth Disease, Axonal, Type 2n (C567653)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O (OMIM:614228)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q (OMIM:615025)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T (OMIM:617017)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U (OMIM:616280)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V (OMIM:616491)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W (OMIM:616625)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
..Charcot-Marie-Tooth Disease, Demyelinating, Type 1e (C566136)
..CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
..Charcot-Marie-Tooth disease, dominant intermediate 1 (C535399)
..Charcot-Marie-Tooth disease, dominant intermediate 2 (C535400)
..Charcot-Marie-Tooth disease, dominant intermediate 3 (C535401)
..Charcot-Marie-Tooth Disease, Dominant Intermediate A (C564702)
..Charcot-Marie-Tooth Disease, Dominant Intermediate B (C564703)
..Charcot-Marie-Tooth Disease, Dominant Intermediate C (C564257)
..Charcot-Marie-Tooth Disease, Dominant Intermediate D (C564333)
..CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
..CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
..Charcot-Marie-Tooth Disease, Foot Deformity of (C564179)
..Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type (C566137)
..Charcot-Marie-Tooth Disease, Recessive Intermediate A (C564256)
..CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B (OMIM:613641)
..CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (OMIM:615376)
..CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D (OMIM:616039)
..Charcot-Marie-Tooth disease, Type 1C (C537984)
..Charcot-Marie-Tooth disease, Type 1D (C537985)
..Charcot-Marie-Tooth disease, Type 1E (C537986)
..Charcot-Marie-Tooth disease, Type 1F (C537987)
..Charcot-Marie-Tooth disease, Type 2A (C537988)
..Charcot-Marie-Tooth disease, Type 2B (C537989)
..Charcot-Marie-Tooth disease, Type 2B1 (C537990)
..Charcot-Marie-Tooth disease, Type 2B2 (C537991)
..Charcot-Marie-Tooth disease, Type 2C (C537992)
..Charcot-Marie-Tooth disease, Type 2D (C537993)
..Charcot-Marie-Tooth disease, Type 2E (C537994)
..Charcot-Marie-Tooth disease, Type 2F (C535413)
..Charcot-Marie-Tooth disease, Type 2H (C535415)
..Charcot-Marie-Tooth disease, Type 2I (C535416)
..Charcot-Marie-Tooth disease, Type 2J (C535417)
..Charcot-Marie-Tooth disease, Type 2K (C535418)
..Charcot-Marie-Tooth disease, Type 4A (C535419)
..Charcot-Marie-Tooth disease, Type 4A, axonal form (C539595) 1
..Charcot-Marie-Tooth disease, Type 4B1 (C535420)
..Charcot-Marie-Tooth disease, Type 4B2 (C535421)
..Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma (C535422)
..CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
..Charcot-Marie-Tooth disease, Type 4C (C535423)
..Charcot-Marie-Tooth disease, Type 4E (C535301)
..Charcot-Marie-Tooth Disease, Type 4H (C563740)
..Charcot-Marie-Tooth Disease, Type 4j (C566984)
..CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)
..Charcot-Marie-Tooth disease, X-linked recessive, 2 (C535302)
..Charcot-Marie-Tooth disease, X-linked recessive, 3 (C535303)
..Charcot-Marie-Tooth disease, X-linked, 1 (C535919)
..Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia (C564704)
..Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma (C565761)
..Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined (C564446)
..Cowchock syndrome (C536450)
..Hereditary Motor And Sensory Neuropathy, Type IIC (C565261)
..Keratoderma palmoplantar spastic paralysis (C536153)
..Neuropathy, Distal Hereditary Motor, Type IIA (C563561)
..Neuropathy, hereditary motor and sensory, LOM type (C535716)
..Polyneuropathy, Mixed, of Early Onset (C564879)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

2175

Name:

Charcot-Marie-Tooth Disease, Axonal, Type 2n

Definition:

Alternative IDs:

OMIM:613287

ParentIDs:

MESH:D002607

TreeNumbers:

C10.500.300.200/C567653 |C10.574.500.495.200/C567653 |C10.668.829.800.300.200/C567653 |C16.131.666.300.200/C567653 |C16.320.400.375.200/C567653

Synonyms:

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n |Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n |CMT2N

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C567653
MeSH: C567653
OMIM: 613287;
MSeqDR :
Genes: AARS;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001284	Areflexia
3	HP:0003431	Decreased motor nerve conduction velocity
4	HP:0002460	Distal muscle weakness NAMDC: Muscle weakness: distal
5	HP:0002936	Distal sensory impairment
6	HP:0009027	Foot dorsiflexor weakness
7	HP:0001765	Hammertoe
8	HP:0003477	Peripheral axonal neuropathy NAMDC: Neuropathy axonal
9	HP:0001761	Pes cavus
10	HP:0000407	Sensorineural hearing impairment NAMDC: Sensorineural hearing loss
11	HP:0003202	Skeletal muscle atrophy
12	HP:0003828	Variable expressivity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001605.3(AARS1):c.*324G>A	16	AARS1	Uncertain significance	141837805	RCV000390131;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70286300	70286300	NC_000016.9:g.70286300C>T	ClinGen:CA10648831	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.*251A>C	16	AARS1	Benign/Likely benign	116553521	RCV000302708\|RCV001537481;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:C3661900	16	70286373	70286373	NC_000016.9:g.70286373T>G	ClinGen:CA10648836	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.*213C>T	16	AARS1	Likely benign	150625194	RCV000357566;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70286411	70286411	NC_000016.9:g.70286411G>A	ClinGen:CA10648840	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.*169C>G	16	AARS1	Uncertain significance	554221793	RCV000392008;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70286455	70286455	NC_000016.9:g.70286455G>C	ClinGen:CA10638252	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.*141A>G	16	AARS1	Benign	576707006	RCV001116878;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70286483	70286483	16:g.70286483T>C	-
NM_001605.3(AARS1):c.*131G>A	16	AARS1	Uncertain significance	555883502	RCV001116879;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70286493	70286493	16:g.70286493C>T	-
NM_001605.3(AARS1):c.*74A>T	16	AARS1	Benign	11537663	RCV000304056\|RCV001672525;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:C3661900	16	70286550	70286550	NC_000016.9:g.70286550T>A	ClinGen:CA10644128	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.*32T>C	16	AARS1	Uncertain significance	771868425	RCV001116880;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70286592	70286592	16:g.70286592A>G	-
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met)	16	AARS1	Benign/Likely benign	35744709	RCV000204138\|RCV000625089\|RCV001699156\|RCV001706199\|RCV002500655;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174; MONDO:MONDO:0014593,MedGen:C4225361,OMIM:6	16	70286631	70286631	16:g.70286631T>A	ClinGen:CA348381	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser)	16	AARS1	Benign/Likely benign	149377346	RCV000143805\|RCV000204097\|RCV000625090\|RCV001698971;	N	MedGen:C3661900\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:CN169374	16	70286740	70286740	16:g.70286740C>T	ClinGen:CA233068	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.2732A>G (p.Asn911Ser)	16	AARS1	Conflicting interpretations of pathogenicity	746822330	RCV000551294\|RCV000999717\|RCV001094339\|RCV002248617\|RCV002461072\|RCV003409502;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|	16	70286799	70286799	16:g.70286799T>C	ClinGen:CA8140278	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.2730C>T (p.Ala910=)	16	AARS1	Likely benign	199839663	RCV001118327\|RCV001477680;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746	16	70286801	70286801	16:g.70286801G>A	-
NM_001605.3(AARS1):c.2715T>C (p.Val905=)	16	AARS1	Benign	4081753	RCV000364752\|RCV000606519\|RCV001544476\|RCV001699365\|RCV001706512;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0014593,MedGen:C4225361,OMIM:616339, Orphanet:442835\|MedGen:CN169374\|MedGen:C3661900	16	70287177	70287177	NC_000016.9:g.70287177A>G	ClinGen:CA8140308	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.2700G>A (p.Thr900=)	16	AARS1	Benign/Likely benign	140814462	RCV000538815\|RCV001094340\|RCV001706513\|RCV002461073;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	16	70287192	70287192	NC_000016.9:g.70287192C>T	ClinGen:CA8140309	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.2677G>A (p.Asp893Asn)	16	AARS1	Uncertain significance	786205851	RCV000171127\|RCV003311705;	N	MedGen:CN517202\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70287215	70287215	NC_000016.9:g.70287215C>T	ClinGen:CA235725,OMIM:601065.0005	CN517202 not provided;
NM_001605.3(AARS1):c.2608-6C>A	16	AARS1	Benign/Likely benign	200965527	RCV000200514\|RCV001118328\|RCV002460980;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123	16	70287290	70287290	NC_000016.9:g.70287290G>T	ClinGen:CA339355	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.2596G>A (p.Ala866Thr)	16	AARS1	Uncertain significance	374478964	RCV000330046\|RCV001094341\|RCV001753779;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:CN517202	16	70287628	70287628	NC_000016.9:g.70287628C>T	ClinGen:CA8140357	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.2592C>T (p.Ser864=)	16	AARS1	Benign/Likely benign	11537665	RCV001118329\|RCV001522066;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746	16	70287632	70287632	16:g.70287632G>A	-
NM_001605.3(AARS1):c.2580G>A (p.Leu860=)	16	AARS1	Conflicting interpretations of pathogenicity	145581652	RCV000526102\|RCV000585471\|RCV000999716\|RCV001094392\|RCV002461074;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MedGen:C3661900\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123	16	70287644	70287644	16:g.70287644C>T	ClinGen:CA8140361	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.2521-3C>T	16	AARS1	Conflicting interpretations of pathogenicity	200586605	RCV000175419\|RCV000198276\|RCV000513290\|RCV000625091\|RCV002460954;	N	MedGen:CN169374\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MedGen:C3661900\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123	16	70287706	70287706	16:g.70287706G>A	ClinGen:CA241180	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg)	16	AARS1	Likely benign	147319762	RCV000204476\|RCV000443439\|RCV000440156\|RCV001094393\|RCV002460991;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123	16	70287883	70287883	NC_000016.9:g.70287883T>C	ClinGen:CA348704	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.2421C>A (p.Ile807=)	16	AARS1	Conflicting interpretations of pathogenicity	768412428	RCV000372058\|RCV002461075;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123	16	70287921	70287921	NC_000016.9:g.70287921G>T	ClinGen:CA8140416	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.2401-11A>G	16	AARS1	Conflicting interpretations of pathogenicity	377576408	RCV000612027\|RCV001119869\|RCV002232738;	N	MedGen:CN169374\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746	16	70287952	70287952	16:g.70287952T>C	ClinGen:CA8140419	CN169374 not specified;
NM_001605.3(AARS1):c.2378G>C (p.Arg793Thr)	16	AARS1	Uncertain significance	886052253	RCV000280890;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70288546	70288546	NC_000016.9:g.70288546C>G	ClinGen:CA10638257	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.2285A>G (p.Lys762Arg)	16	AARS1	Uncertain significance	1224948634	RCV001330614\|RCV001218536;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746	16	70289632	70289632	16:g.70289632T>C	-
NM_001605.3(AARS1):c.2240A>G (p.Lys747Arg)	16	AARS1	Uncertain significance	886052254	RCV000338223;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70289677	70289677	NC_000016.9:g.70289677T>C	ClinGen:CA10648003	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.2217C>T (p.Ile739=)	16	AARS1	Likely benign	770980206	RCV000536143\|RCV000761938\|RCV001094394\|RCV002461076;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MedGen:C3661900\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123	16	70289700	70289700	NC_000016.9:g.70289700G>A	ClinGen:CA8140514	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.2192C>G (p.Ser731Trp)	16	AARS1	Pathogenic	150873930	RCV002249208;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70289725	70289725	70289725	-
NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln)	16	AARS1	Conflicting interpretations of pathogenicity	142850278	RCV000236790\|RCV000704888\|RCV000765312\|RCV002461032;	N	MedGen:C3661900\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0014593,MedGen:C4225361,OMIM:616339, Orphanet:442835; MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123	16	70289731	70289731	16:g.70289731C>T	ClinGen:CA8140522	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)	16	AARS1	Conflicting interpretations of pathogenicity	138081804	RCV000143804\|RCV000999712\|RCV001086355\|RCV001121845\|RCV002460928;	N	MedGen:C3661900\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123	16	70289732	70289732	16:g.70289732G>A	ClinGen:CA233065	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.2178-14G>A	16	AARS1	Likely benign	371633904	RCV000437870\|RCV001121846\|RCV002229916;	N	MedGen:CN169374\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746	16	70289753	70289753	16:g.70289753C>T	ClinGen:CA8140527	CN169374 not specified;
NM_001605.3(AARS1):c.2129C>T (p.Pro710Leu)	16	AARS1	Uncertain significance	754391789	RCV000284323\|RCV000857009\|RCV002229869\|RCV002510852;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MedGen:C3661900	16	70291984	70291984	NC_000016.9:g.70291984G>A	ClinGen:CA8140556	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.2113G>A (p.Glu705Lys)	16	AARS1	Uncertain significance	1223915249	RCV001121847;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70292000	70292000	16:g.70292000C>T	-
NM_001605.3(AARS1):c.2109G>C (p.Val703=)	16	AARS1	Conflicting interpretations of pathogenicity	777499923	RCV000341561\|RCV002229957\|RCV002461077;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MeSH:D030342,MedGen:C0950123	16	70292004	70292004	NC_000016.9:g.70292004C>G	ClinGen:CA8140561	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.2019G>C (p.Leu673=)	16	AARS1	Likely benign	775476419	RCV001121848;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70292094	70292094	16:g.70292094C>G	-
NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp)	16	AARS1	Uncertain significance	749039663	RCV001371421\|RCV002493889;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174; MONDO:MONDO:0030634,MedGen:C5562044,OMIM:619661; MONDO:MONDO:0014593,MedGen:C4225361,OMIM:616339, Orphanet:442835; MONDO:MONDO:0030517,MedGen	16	70292906	70292906	70292906	-
NM_001605.3(AARS1):c.1897C>T (p.Arg633Cys)	16	AARS1	Uncertain significance	758423103	RCV000229686\|RCV002288920;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70292978	70292978	16:g.70292978G>A	ClinGen:CA8140638	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1878C>T (p.Gly626=)	16	AARS1	Likely benign	752673097	RCV002236869\|RCV003326012;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0014593,MedGen:C4225361,OMIM:616339, Orphanet:442835; MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70292997	70292997	70292997	-
NM_001605.3(AARS1):c.1846C>T (p.Arg616Cys)	16	AARS1	Uncertain significance	372221218	RCV001094472\|RCV000653923\|RCV001812852\|RCV002461078;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	16	70293029	70293029	NC_000016.9:g.70293029G>A	ClinGen:CA8140646	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1824G>A (p.Thr608=)	16	AARS1	Likely benign	199644417	RCV000306413\|RCV000422951\|RCV002521064\|RCV002461079;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:CN169374\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MeSH:D030342,MedGen:C0950123	16	70293051	70293051	NC_000016.9:g.70293051C>T	ClinGen:CA8140651	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1823C>T (p.Thr608Met)	16	AARS1	Conflicting interpretations of pathogenicity	1597435885	RCV000789721\|RCV001362690\|RCV001759481\|RCV002470981;	N	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MedGen:CN517202\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70293052	70293052	16:g.70293052G>A	-
NM_001605.3(AARS1):c.1815C>G (p.His605Gln)	16	AARS1	Likely pathogenic	-1	RCV003231055;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70293060	70293060		-
NM_001605.3(AARS1):c.1762C>T (p.Gln588Ter)	16	AARS1	Uncertain significance	146946034	RCV000779197;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70294970	70294970	NC_000016.9:g.70294970G>A	-
NM_001605.3(AARS1):c.1737C>T (p.Ile579=)	16	AARS1	Benign/Likely benign	144323646	RCV000436989\|RCV000474013\|RCV001094240\|RCV001532281\|RCV002461080;	N	MedGen:CN169374\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	16	70294995	70294995	NC_000016.9:g.70294995G>A	ClinGen:CA8140702	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile)	16	AARS1	Benign/Likely benign	148355156	RCV000143803\|RCV000204958\|RCV000509259\|RCV000736083;	N	MedGen:C3661900\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:CN169374	16	70295047	70295047	NC_000016.9:g.70295047G>A	ClinGen:CA233062	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1672-4T>A	16	AARS1	Benign/Likely benign	187509039	RCV000197414\|RCV000487524\|RCV000593610\|RCV001094241\|RCV002460979\|RCV002500617;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174; MONDO:MONDO:0	16	70295064	70295064	16:g.70295064A>T	ClinGen:CA337192	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1671+10C>T	16	AARS1	Likely benign	184240527	RCV000459791\|RCV001115276\|RCV001721411;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:C3661900	16	70296239	70296239	NC_000016.9:g.70296239G>A	ClinGen:CA8140736	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1656T>C (p.Asp552=)	16	AARS1	Benign/Likely benign	148659998	RCV001115277\|RCV001518154;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746	16	70296264	70296264	16:g.70296264A>G	-
NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys)	16	AARS1	Uncertain significance	764124393	RCV001115278;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70296287	70296287	16:g.70296287C>T	-
NM_001605.3(AARS1):c.1611G>T (p.Glu537Asp)	16	AARS1	Uncertain significance	371617479	RCV000366754\|RCV002461081;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123	16	70296309	70296309	NC_000016.9:g.70296309C>A	ClinGen:CA10648007	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1596C>A (p.Thr532=)	16	AARS1	Conflicting interpretations of pathogenicity	142181559	RCV000274720\|RCV002461082;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123	16	70296324	70296324	NC_000016.9:g.70296324G>T	ClinGen:CA8140750	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1587G>A (p.Leu529=)	16	AARS1	Conflicting interpretations of pathogenicity	886052255	RCV000313430\|RCV002461083;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123	16	70296333	70296333	NC_000016.9:g.70296333C>T	ClinGen:CA10648862	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1514C>T (p.Thr505Met)	16	AARS1	Uncertain significance	755492122	RCV001809088;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70296406	70296406	70296406	-
NM_001605.3(AARS1):c.1509G>A (p.Val503=)	16	AARS1	Benign/Likely benign	138406510	RCV000654021\|RCV001118434;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70296411	70296411	NC_000016.9:g.70296411C>T	ClinGen:CA8140771	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1493-7T>C	16	AARS1	Conflicting interpretations of pathogenicity	376087556	RCV000653995\|RCV001094345;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70296434	70296434	NC_000016.9:g.70296434A>G	ClinGen:CA8140776	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1481G>T (p.Ser494Ile)	16	AARS1	Conflicting interpretations of pathogenicity	771059047	RCV000235750\|RCV001089010\|RCV001118435;	N	MedGen:CN517202\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70298872	70298872	16:g.70298872C>A	ClinGen:CA8140806	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1444G>T (p.Asp482Tyr)	16	AARS1	Uncertain significance	763513667	RCV001334934;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70298909	70298909	70298909	-
NM_001605.3(AARS1):c.1428G>C (p.Arg476=)	16	AARS1	Benign/Likely benign	80257731	RCV000542217\|RCV001118436\|RCV001703698\|RCV002461148;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	16	70298925	70298925	16:g.70298925C>G	ClinGen:CA8140816	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1410C>T (p.Ile470=)	16	AARS1	Benign/Likely benign	79785372	RCV000529778\|RCV000858605\|RCV001522062\|RCV002461084;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:C3661900\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MeSH:D030342,MedGen:C0950123	16	70298943	70298943	NC_000016.9:g.70298943G>A	ClinGen:CA8140822	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=)	16	AARS1	Benign/Likely benign	117598688	RCV000227964\|RCV000371209\|RCV001094346\|RCV001706256\|RCV002460999\|RCV002503904;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MedGen:CN169374\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0030634,MedGen:C5562044,OMIM:619661; MONDO:MONDO:0030517,MedGen:C5	16	70298949	70298949	16:g.70298949G>A	ClinGen:CA8140824	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg)	16	AARS1	Uncertain significance	769182022	RCV001118437\|RCV002462330\|RCV001349997;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746	16	70298978	70298978	16:g.70298978C>T	-
NM_001605.3(AARS1):c.1332G>A (p.Glu444=)	16	AARS1	Benign/Likely benign	150442667	RCV000442872\|RCV000476186\|RCV001706514\|RCV001094398\|RCV002461085;	N	MedGen:CN169374\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MedGen:C3661900\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123	16	70299456	70299456	NC_000016.9:g.70299456C>T	ClinGen:CA8140856	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys)	16	AARS1	Conflicting interpretations of pathogenicity	147433234	RCV000653852\|RCV000999706\|RCV001094399\|RCV002461086;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123	16	70299535	70299535	16:g.70299535T>C	ClinGen:CA8140863	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1180G>T (p.Asp394Tyr)	16	AARS1	Uncertain significance	2152160177	RCV002239826\|RCV002291064;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70301604	70301604	70301604	-
NM_001605.3(AARS1):c.1171C>T (p.Arg391Cys)	16	AARS1	Conflicting interpretations of pathogenicity	147580372	RCV001228542\|RCV002468625;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70301613	70301613	16:g.70301613G>A	-
NM_001605.3(AARS1):c.1120A>G (p.Ile374Val)	16	AARS1	Uncertain significance	142128800	RCV000653879\|RCV001094400\|RCV003422271;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:C3661900	16	70301664	70301664	NC_000016.9:g.70301664T>C	ClinGen:CA8140913	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1110G>C (p.Met370Ile)	16	AARS1	Uncertain significance	1468385890	RCV001119957\|RCV002240653;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746	16	70301674	70301674	16:g.70301674C>G	-
NM_001605.3(AARS1):c.1093A>G (p.Lys365Glu)	16	AARS1	Uncertain significance	774143119	RCV002236916\|RCV003444244;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70301691	70301691	70301691	-
NM_001605.3(AARS1):c.1087G>C (p.Glu363Gln)	16	AARS1	Uncertain significance	-1	RCV002289290;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70301697	70301697	70301697	-
NM_001605.3(AARS1):c.1059C>T (p.Val353=)	16	AARS1	Conflicting interpretations of pathogenicity	1054385792	RCV001119958\|RCV002556565;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746	16	70302186	70302186	16:g.70302186G>A	-
NM_001605.3(AARS1):c.1044G>C (p.Thr348=)	16	AARS1	Benign/Likely benign	181264712	RCV000352256\|RCV000465337\|RCV001094401\|RCV001812768\|RCV002461054\|RCV002494831;	N	MedGen:CN169374\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0030634,MedGen:C5562044,OMIM:619661; MONDO:MONDO:0030517,MedGen:C5	16	70302201	70302201	16:g.70302201C>G	ClinGen:CA8140946	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met)	16	AARS1	Uncertain significance	762241422	RCV000999702\|RCV001119959\|RCV002236009\|RCV002462252;	N	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MeSH:D030342,MedGen:C0950123	16	70302202	70302202	16:g.70302202G>A	-
NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser)	16	AARS1	Conflicting interpretations of pathogenicity	140135726	RCV000461393\|RCV000999701\|RCV001330613\|RCV001700185\|RCV002461217;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	16	70302226	70302226	16:g.70302226T>C	ClinGen:CA8140950	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.1009G>A (p.Glu337Lys)	16	AARS1	Pathogenic	2152160733	RCV001806263\|RCV002541169;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746	16	70302236	70302236	70302236	OMIM:601065.0009
NM_001605.3(AARS1):c.986G>A (p.Arg329His)	16	AARS1	Pathogenic/Likely pathogenic	267606621	RCV000008987\|RCV000192253\|RCV000168406\|RCV001269580;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MedGen:C3661900	16	70302259	70302259	16:g.70302259C>T	ClinGen:CA254396,UniProtKB:P49588#VAR_063527,OMIM:601065.0001	C0007959 Charcot-Marie-Tooth disease;
NM_001605.3(AARS1):c.977G>C (p.Arg326Pro)	16	AARS1	Pathogenic	2152160758	RCV002249209;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70302268	70302268	70302268	-
NM_001605.3(AARS1):c.976C>T (p.Arg326Trp)	16	AARS1	Conflicting interpretations of pathogenicity	777601008	RCV000761940\|RCV000809951\|RCV001805843\|RCV001731192\|RCV002462124;	N	MedGen:C3661900\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|Human Phenotype Ontology:HP:0003157,Human Phenotype Ontology:HP:0003407,Human Phenotype Ontology:HP:0007088,Human Phenotyp	16	70302269	70302269	NC_000016.9:g.70302269G>A	OMIM:601065.0008
NM_001605.3(AARS1):c.962+15C>T	16	AARS1	Conflicting interpretations of pathogenicity	779150762	RCV000287382\|RCV002522887;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746	16	70303506	70303506	NC_000016.9:g.70303506G>A	ClinGen:CA8140982	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.959G>A (p.Arg320His)	16	AARS1	Uncertain significance	557600847	RCV000557786\|RCV002461364\|RCV002491101\|RCV003448323;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0030517,MedGen:C5562057,OMIM:619691; MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174; MONDO:MONDO:0030634,MedGen:C5562044,OMIM:619661; MONDO:MONDO:0	16	70303524	70303524	16:g.70303524C>T	ClinGen:CA8140987	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.946G>T (p.Asp316Tyr)	16	AARS1	Uncertain significance	750331983	RCV001121947;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70303537	70303537	16:g.70303537C>A	-
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr)	16	AARS1	Conflicting interpretations of pathogenicity	576221121	RCV000344744\|RCV000436624\|RCV001094475\|RCV002461087;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MedGen:C3661900\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123	16	70303579	70303579	NC_000016.9:g.70303579C>T	ClinGen:CA8141006	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.903C>T (p.His301=)	16	AARS1	Benign	2070203	RCV000374249\|RCV000382444\|RCV000613550\|RCV001706419;	N	MedGen:CN169374\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:C3661900	16	70303580	70303580	16:g.70303580G>A	ClinGen:CA8141007	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.828C>G (p.Ala276=)	16	AARS1	Uncertain significance	914414911	RCV001121948;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70303655	70303655	16:g.70303655G>C	-
NM_001605.3(AARS1):c.824G>A (p.Gly275Asp)	16	AARS1	Benign	11537667	RCV000460865\|RCV000986178\|RCV001540662;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:C3661900	16	70303659	70303659	16:g.70303659C>T	ClinGen:CA8141018,UniProtKB:P49588#VAR_028204	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.806C>G (p.Ala269Gly)	16	AARS1	Uncertain significance	769239545	RCV000348141;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70304109	70304109	NC_000016.9:g.70304109G>C	ClinGen:CA8141044	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.741G>A (p.Leu247=)	16	AARS1	Benign/Likely benign	148075561	RCV000466442\|RCV001094476\|RCV001718666\|RCV002461088;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	16	70304174	70304174	NC_000016.9:g.70304174C>T	ClinGen:CA8141056	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.700C>T (p.Pro234Ser)	16	AARS1	Benign/Likely benign	141840552	RCV000200493\|RCV000488107\|RCV001094477\|RCV002460981\|RCV002492916;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MedGen:C3661900\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174; MONDO:MONDO:0030634,MedGen:C5	16	70304215	70304215	NC_000016.9:g.70304215G>A	ClinGen:CA339337	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.671+3A>G	16	AARS1	Benign	74024185	RCV000460605\|RCV000986179\|RCV001712033;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:C3661900	16	70305681	70305681	16:g.70305681T>C	ClinGen:CA8141075	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.618G>T (p.Gln206His)	16	AARS1	Conflicting interpretations of pathogenicity	139785247	RCV000850375\|RCV002234890;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746	16	70305737	70305737	16:g.70305737C>A	-
NM_001605.3(AARS1):c.600C>T (p.Ala200=)	16	AARS1	Conflicting interpretations of pathogenicity	150080663	RCV000658751\|RCV001079599\|RCV001115372\|RCV002460956;	N	MedGen:C3661900\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123	16	70305755	70305755	16:g.70305755G>A	ClinGen:CA246039	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.561C>T (p.Cys187=)	16	AARS1	Benign/Likely benign	78523270	RCV000439902\|RCV000653977\|RCV001094247\|RCV002461089\|RCV003422272;	N	MedGen:CN169374\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	16	70305794	70305794	NC_000016.9:g.70305794G>A	ClinGen:CA8141101	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.518A>G (p.Asp173Gly)	16	AARS1	Conflicting interpretations of pathogenicity	765398055	RCV000236496\|RCV000477239\|RCV001094248\|RCV002461031;	N	MedGen:CN517202\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123	16	70305837	70305837	16:g.70305837T>C	ClinGen:CA8141111	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.501C>T (p.Leu167=)	16	AARS1	Uncertain significance	1567608510	RCV001115373;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70305854	70305854	16:g.70305854G>A	-
NM_001605.3(AARS1):c.480-8T>G	16	AARS1	Conflicting interpretations of pathogenicity	751472610	RCV000354251\|RCV001090445;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:C3661900	16	70305883	70305883	NC_000016.9:g.70305883A>C	ClinGen:CA8141117	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.479+1G>T	16	AARS1	Likely pathogenic	-1	RCV003336696;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70310388	70310388		-
NM_001605.3(AARS1):c.430G>A (p.Ala144Thr)	16	AARS1	Conflicting interpretations of pathogenicity	147187788	RCV000866125\|RCV001115374\|RCV001788376\|RCV002462202;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	16	70310438	70310438	16:g.70310438C>T	-
NM_001605.3(AARS1):c.342A>C (p.Ala114=)	16	AARS1	Conflicting interpretations of pathogenicity	190680402	RCV000841300\|RCV001115375\|RCV001456378;	N	MedGen:CN517202\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746	16	70310526	70310526	16:g.70310526T>G	-
NM_001605.3(AARS1):c.333+3A>C	16	AARS1	Conflicting interpretations of pathogenicity	747431164	RCV000540050\|RCV001094352\|RCV002461090;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MeSH:D030342,MedGen:C0950123	16	70310866	70310866	NC_000016.9:g.70310866T>G	ClinGen:CA8141171	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.328T>C (p.Phe110Leu)	16	AARS1	Likely pathogenic	1555542415	RCV000664214;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70310874	70310874	NC_000016.9:g.70310874A>G	-	C2750090 613287 Charcot-Marie-Tooth disease, type 2N;
NM_001605.3(AARS1):c.312G>A (p.Trp104Ter)	16	AARS1	Conflicting interpretations of pathogenicity	1398433261	RCV002239845\|RCV002247706;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70310890	70310890	70310890	-
NM_001605.3(AARS1):c.259G>A (p.Asp87Asn)	16	AARS1	Uncertain significance	763757370	RCV000656260\|RCV001174954\|RCV001175107\|RCV002527596;	N	MedGen:CN517202\|MONDO:MONDO:0014593,MedGen:C4225361,OMIM:616339, Orphanet:442835; MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0014593,MedGen:C4225361,OMIM:616339, Orphanet:442835\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:	16	70310943	70310943	16:g.70310943C>T	ClinGen:CA8141180	CN517202 not provided;
NM_001605.3(AARS1):c.242A>C (p.Lys81Thr)	16	AARS1	Likely pathogenic	786205157	RCV000170341\|RCV000236174\|RCV003311703;	N	MONDO:MONDO:0014593,MedGen:C4225361,OMIM:616339, Orphanet:442835\|MedGen:CN517202\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70310960	70310960	16:g.70310960T>G	ClinGen:CA199541,UniProtKB:P49588#VAR_073719,OMIM:601065.0003	C4225361 616339 Epileptic encephalopathy, early infantile, 29;
NM_001605.3(AARS1):c.212A>G (p.Asn71Ser)	16	AARS1	Uncertain significance	757167895	RCV000702635\|RCV001118520\|RCV002245611\|RCV002536362;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	16	70310990	70310990	16:g.70310990T>C	-	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.211A>T (p.Asn71Tyr)	16	AARS1	Conflicting interpretations of pathogenicity	387906792	RCV000023068;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70310991	70310991	16:g.70310991T>A	ClinGen:CA259750,UniProtKB:P49588#VAR_067084,OMIM:601065.0002	C2750090 613287 Charcot-Marie-Tooth disease, type 2N;
NM_001605.3(AARS1):c.91A>G (p.Thr31Ala)	16	AARS1	Uncertain significance	886052256	RCV000300599\|RCV002229870;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746	16	70316576	70316576	NC_000016.9:g.70316576T>C	ClinGen:CA10644142	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.64G>A (p.Glu22Lys)	16	AARS1	Benign/Likely benign	151091410	RCV000541559\|RCV000514901\|RCV001094353;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MedGen:C3661900\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70316603	70316603	NC_000016.9:g.70316603C>T	ClinGen:CA8141237	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.63C>T (p.Asn21=)	16	AARS1	Conflicting interpretations of pathogenicity	773045737	RCV001118521\|RCV002232640\|RCV002461362;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MeSH:D030342,MedGen:C0950123	16	70316604	70316604	16:g.70316604G>A	ClinGen:CA8141238	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_001605.3(AARS1):c.-21-11dup	16	AARS1	Likely benign	756492963	RCV000484595\|RCV002496854;	N	MedGen:CN169374\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174; MONDO:MONDO:0014593,MedGen:C4225361,OMIM:616339, Orphanet:442835; MONDO:MONDO:0030517,MedGen:C5562057,OMIM:619691; MONDO:MONDO:0030634,MedGen:C5562044,OMIM:619661	16	70316697	70316698	16:g.70316697_70316698insA	ClinGen:CA8141261	CN169374 not specified;
NM_001605.2(AARS1):c.-108T>C	16	AARS1	Uncertain significance	779683414	RCV000265414;	N	MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	16	70323410	70323410	16:g.70323410A>G	ClinGen:CA10648015	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_015459.5(ATL3):c.1392A>G (p.Ile464Met)	25923	ATL3	Uncertain significance	376091022	RCV000812477\|RCV001027488\|RCV003311896;	N	MONDO:MONDO:0014286,MedGen:C3810194,OMIM:615632, Orphanet:36386\|MedGen:CN517202\|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287, Orphanet:228174	11	63398659	63398659	11:g.63398659T>C	-

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