Advanced Search (OLGA)

Gene: MME (membrane metalloendopeptidase) Homo sapiens

Analyze

Symbol:

MME

Name:

membrane metalloendopeptidase

RGD ID:

737353

HGNC Page

HGNC:7154

Description:

Enables several functions, including peptidase activity; phospholipid binding activity; and protein homodimerization activity. Involved in several processes, including amyloid-beta clearance by cellular catabolic process; bradykinin catabolic process; and cellular response to UV. Located in several cellular components, including brush border; early endosome; and trans-Golgi network. Implicated in Alzheimer's disease; Charcot-Marie-Tooth disease axonal type 2T; cerebellar ataxia type 43; cerebral amyloid angiopathy; and membranous glomerulonephritis. Biomarker of cerebral amyloid angiopathy and periodontitis.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

atriopeptidase; CALLA; CD10; CMT2T; common acute lymphocytic leukemia antigen; DKFZp686O16152; enkephalinase; membrane metallo endopeptidase; membrane metallo-endopeptidase; membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase); membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10); membrane metallo-endopeptidase variant 1; membrane metallo-endopeptidase variant 2; MGC126681; MGC126707; NEP; neprilysin; neprilysin-390; neprilysin-411; neutral endopeptidase 24.11; SCA43; SFE; skin fibroblast elastase

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):	Mme (membrane metallo endopeptidase)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Mme (membrane metallo-endopeptidase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Mme (membrane metalloendopeptidase)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	MME (membrane metalloendopeptidase)	NCBI	Ortholog
Canis lupus familiaris (dog):	MME (membrane metalloendopeptidase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Mme (membrane metalloendopeptidase)	NCBI	Ortholog
Sus scrofa (pig):	MME (membrane metalloendopeptidase)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	MME (membrane metalloendopeptidase)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Mme (membrane metalloendopeptidase)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Mmel1 (membrane metallo-endopeptidase-like 1)	HGNC	OrthoMCL
Sus scrofa (pig):	MMEL1 (membrane metalloendopeptidase like 1)	HGNC	OrthoDB
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Mme (membrane metallo-endopeptidase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Mme (membrane metallo endopeptidase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Nep4	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	nep-2	Alliance	DIOPT (Hieranoid\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Drosophila melanogaster (fruit fly):	Nep1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Xenopus tropicalis (tropical clawed frog):	mme	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|PhylomeDB)

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	3	155,024,202 - 155,183,729 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	155,024,124 - 155,183,704 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	154,741,991 - 154,901,518 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	156,280,130 - 156,384,212 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	3	156,280,756 - 156,384,194	NCBI
Celera	3	153,217,556 - 153,321,523 (+)	NCBI		Celera
Cytogenetic Map	3	q25.2	NCBI
HuRef	3	152,191,860 - 152,295,862 (+)	NCBI		HuRef
CHM1_1	3	154,760,481 - 154,864,540 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	3	157,798,155 - 157,957,709 (+)	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

Alzheimer's disease (IAGP,IDA,IMP,ISO,ISS)

Breast Neoplasms (EXP)

cerebellar ataxia type 43 (IAGP)

cerebral amyloid angiopathy (IDA,IEP)

Charcot-Marie-Tooth disease (EXP)

Charcot-Marie-Tooth disease axonal type 2T (IAGP)

Charcot-Marie-Tooth disease type 2 (IAGP)

congestive heart failure (ISO)

COVID-19 (HEP)

Cryopyrin-Associated Periodic Syndromes (EXP)

diabetic neuropathy (EXP)

diarrhea (ISO)

Endotoxemia (ISO)

Experimental Liver Cirrhosis (EXP)

genetic disease (IAGP)

hepatocellular carcinoma (ISO)

hereditary breast ovarian cancer syndrome (IAGP)

hypertension (ISO)

Hypoglossal Nerve Injuries (ISO)

Hypoxia (IDA,ISO)

kidney failure (EXP)

Lung Injury (EXP)

membranous glomerulonephritis (IAGP)

neuropathy (IAGP)

periodontitis (IEP)

peripheral nervous system disease (IAGP)

Prostatic Neoplasms (EXP)

Spinocerebellar Ataxias (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(S)-nicotine (EXP)

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

1-naphthyl isothiocyanate (ISO)

17beta-estradiol (EXP)

17beta-hydroxy-17-methylestra-4,9,11-trien-3-one (EXP)

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

2,2',5,5'-tetrachlorobiphenyl (EXP)

2,2,2-tetramine (ISO)

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

3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine (ISO)

3,3',4,4',5-pentachlorobiphenyl (ISO)

3,3',5,5'-tetrabromobisphenol A (ISO)

3,4-methylenedioxymethamphetamine (ISO)

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

4,4'-sulfonyldiphenol (EXP,ISO)

4-hydroxyphenyl retinamide (ISO)

6-propyl-2-thiouracil (ISO)

7,12-dimethyltetraphene (ISO)

8-Br-cAMP (EXP)

acrolein (EXP)

aflatoxin B1 (EXP)

Aflatoxin B2 alpha (EXP)

agmatine (ISO)

aldehydo-D-glucose (ISO)

all-trans-retinoic acid (EXP)

alpha-pinene (EXP)

amitrole (ISO)

ammonium chloride (ISO)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

arsenite(3-) (ISO)

Azoxymethane (ISO)

Benoxacor (ISO)

benzo[a]pyrene (EXP,ISO)

benzo[e]pyrene (EXP)

beta-lapachone (EXP)

beta-naphthoflavone (ISO)

bicalutamide (EXP)

bis(2-ethylhexyl) phthalate (EXP,ISO)

bisphenol A (EXP,ISO)

Bisphenol B (EXP)

bisphenol F (EXP,ISO)

Butylbenzyl phthalate (ISO)

cadmium atom (ISO)

cadmium dichloride (ISO)

candoxatrilat (EXP)

carbon nanotube (ISO)

ceftriaxone (ISO)

CGP 52608 (EXP)

chlordecone (ISO)

chlorpyrifos (ISO)

cisplatin (ISO)

clothianidin (ISO)

cobalt dichloride (EXP)

cocaine (ISO)

copper atom (ISO)

copper(0) (ISO)

copper(II) chloride (EXP)

crocidolite asbestos (ISO)

curcumin (EXP)

cyclosporin A (EXP)

D-glucose (ISO)

DDT (EXP,ISO)

dextran sulfate (ISO)

Dibutyl phosphate (EXP)

dibutyl phthalate (ISO)

diclofenac (ISO)

diethyl phthalate (ISO)

diisobutyl phthalate (ISO)

diisononyl phthalate (ISO)

dioxygen (EXP,ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

elemental selenium (ISO)

endosulfan (ISO)

enilconazole (ISO)

entinostat (EXP)

estrogen (ISO)

ethanol (ISO)

fipronil (ISO)

fisetin (ISO)

flavonoids (ISO)

folic acid (EXP)

FR900359 (EXP)

fulvestrant (EXP)

gentamycin (ISO)

glucose (ISO)

hydralazine (EXP)

L-ascorbic acid (ISO)

lead(0) (EXP,ISO)

lipopolysaccharide (EXP,ISO)

melatonin (ISO)

mercury atom (EXP)

mercury(0) (EXP)

metformin (ISO)

methapyrilene (EXP)

methimazole (ISO)

mitomycin C (EXP)

morphine (ISO)

N-nitrosodiethylamine (ISO)

naloxone (ISO)

Naltrindole (ISO)

niclosamide (EXP)

nicotine (EXP)

ochratoxin A (ISO)

omapatrilat (EXP)

oxaliplatin (ISO)

ozone (EXP)

paracetamol (EXP,ISO)

paraquat (ISO)

perfluorohexanesulfonic acid (ISO)

perfluorooctane-1-sulfonic acid (EXP)

phenobarbital (ISO)

phenylmercury acetate (EXP)

phorbol 13-acetate 12-myristate (EXP)

phosphoramidon (ISO)

pioglitazone (ISO)

pirinixic acid (ISO)

potassium chromate (EXP)

potassium dichromate (EXP)

pravastatin (ISO)

pregnenolone 16alpha-carbonitrile (ISO)

progesterone (EXP,ISO)

propiconazole (ISO)

resveratrol (EXP)

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

S-nitroso-N-acetyl-D-penicillamine (ISO)

SB 431542 (EXP)

selenium atom (ISO)

silicon dioxide (EXP,ISO)

sodium arsenate (EXP)

sodium arsenite (EXP)

sodium fluoride (ISO)

streptozocin (ISO)

sulfadimethoxine (ISO)

sulforaphane (ISO)

tamoxifen (ISO)

temozolomide (EXP)

tert-butyl hydroperoxide (EXP)

testosterone (ISO)

tetrachloromethane (ISO)

thalidomide (ISO)

thiacloprid (ISO)

thioacetamide (ISO)

Thiorphan (EXP,ISO)

titanium dioxide (ISO)

topotecan (ISO)

tributylstannane (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

triclosan (EXP)

trimellitic anhydride (ISO)

triphenyl phosphate (EXP,ISO)

Triptolide (ISO)

troglitazone (ISO)

valproic acid (EXP)

vincaleukoblastine (EXP)

XL147 (ISO)

zaragozic acid A (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

amyloid-beta clearance (IBA,IDA,IEA,IGI,ISS)

amyloid-beta clearance by cellular catabolic process (IDA,IEA,IGI,ISS)

amyloid-beta metabolic process (IEA,ISO,ISS)

angiotensin maturation (ISO)

bradykinin catabolic process (IDA)

cellular response to cytokine stimulus (IDA)

cellular response to UV-A (IDA)

cellular response to UV-B (IDA)

creatinine metabolic process (IMP)

hormone catabolic process (IDA)

kidney development (IEA,IEP,ISO)

learning or memory (IGI)

lung development (IEA,ISO)

neuropeptide processing (IGI)

peptide metabolic process (IEA,ISO,ISS)

placenta development (IEA,ISO)

positive regulation of long-term synaptic potentiation (IEA)

positive regulation of neurogenesis (IGI)

protein catabolic process (IEA,ISO)

protein processing (IBA)

proteolysis (IDA,IEA,IGI,IMP)

replicative senescence (IEP)

response to estrogen (IEA,ISO)

sensory perception of pain (IEA,ISS)

substance P catabolic process (IDA)

Cellular Component

axon (IEA,IGI,ISS)

brush border (IDA)

cell surface (NAS)

cytoplasm (IDA)

cytoplasmic vesicle (IDA)

dendrite (IEA,ISS)

early endosome (IDA)

extracellular exosome (HDA)

extracellular region (ISO)

focal adhesion (HDA)

membrane (IEA,NAS)

membrane raft (IDA)

neuron projection terminus (IEA,ISS)

neuronal cell body (IDA,IGI)

plasma membrane (IBA,IDA,IEA,NAS,TAS)

presynapse (IGI)

secretory granule membrane (TAS)

synapse (IEA,ISS)

synaptic vesicle (IEA,ISS)

trans-Golgi network (IDA)

Molecular Function

cardiolipin binding (IDA)

endopeptidase activity (IDA,IGI,IMP)

exopeptidase activity (IDA)

hydrolase activity (IEA)

metal ion binding (IEA)

metallocarboxypeptidase activity (ISO)

metalloendopeptidase activity (IBA,IDA,IEA,IMP)

metallopeptidase activity (IEA)

oligopeptidase activity (IEA,ISO)

peptidase activity (IEA)

peptide binding (IEA,ISO,ISS)

phosphatidylserine binding (IDA)

protein binding (IPI)

protein homodimerization activity (IPI)

zinc ion binding (IDA)

Molecular Pathway Annotations Click to see Annotation Detail View

Alzheimer's disease pathway (IEA)

angiotensin (1-7) signaling pathway (TAS)

kallikrein-kinin cascade pathway (TAS)

renin-angiotensin cascade pathway (IEA,TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Areflexia (IAGP)

Ataxia (IAGP)

Autosomal dominant inheritance (IAGP)

Autosomal recessive inheritance (IAGP)

Cerebellar vermis atrophy (IAGP)

Cogwheel rigidity (IAGP)

Decreased number of large peripheral myelinated nerve fibers (IAGP)

Dementia (IAGP)

Distal amyotrophy (IAGP)

Distal lower limb amyotrophy (IAGP)

Distal lower limb muscle weakness (IAGP)

Distal sensory impairment (IAGP)

Distal upper limb muscle weakness (IAGP)

Dysarthria (IAGP)

Foot dorsiflexor weakness (IAGP)

Gait ataxia (IAGP)

Glomerular deposits (IAGP)

Glomerulonephritis (IAGP)

Hypometric saccades (IAGP)

Hyporeflexia (IAGP)

Late onset (IAGP)

Late young adult onset (IAGP)

Limb ataxia (IAGP)

Lower limb pain (IAGP)

Middle age onset (IAGP)

Nephrotic syndrome (IAGP)

Nystagmus (IAGP)

Pain (IAGP)

Palmomental reflex (IAGP)

Pectus carinatum (IAGP)

Peripheral axonal neuropathy (IAGP)

Peripheral neuropathy (IAGP)

Pes cavus (IAGP)

Postural instability (IAGP)

Pregnancy exposure (IAGP)

Progressive cerebellar ataxia (IAGP)

Renal insufficiency (IAGP)

Rigidity (IAGP)

Sensorimotor neuropathy (IAGP)

Slowly progressive (IAGP)

Tremor (IAGP)

Unsteady gait (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Differential response of neutral endopeptidase 24.11 ("enkephalinase"), and cholinergic and opioidergic markers to hypoglossal axotomy.	Back SA and Gorenstein C, J Comp Neurol. 1994 Feb 8;340(2):149-60. doi: 10.1002/cne.903400202.
2.	Evaluation of neprilysin sequence variation in relation to CSF ß-Amyloid levels and Alzheimer disease risk.	Blomqvist ME, etal., Int J Mol Epidemiol Genet. 2010 Oct 15;1(1):47-52.
3.	Hypoxia decreases lung neprilysin expression and increases pulmonary vascular leak.	Carpenter TC and Stenmark KR, Am J Physiol Lung Cell Mol Physiol. 2001 Oct;281(4):L941-8. doi: 10.1152/ajplung.2001.281.4.L941.
4.	Role of truncating mutations in MME gene in fetomaternal alloimmunisation and antenatal glomerulopathies.	Debiec H, etal., Lancet. 2004 Oct 2-8;364(9441):1252-9.
5.	A combination Alzheimer's therapy targeting BACE1 and neprilysin in 5XFAD transgenic mice.	Devi L and Ohno M, Mol Brain. 2015 Mar 25;8:19. doi: 10.1186/s13041-015-0110-5.
6.	Increased expression of neprilysin (neutral endopeptidase 24.11) in rat and human hepatocellular carcinomas.	Dragovic T, etal., Lab Invest. 1994 Jan;70(1):107-13.
7.	Possible role of resveratrol targeting estradiol and neprilysin pathways in lipopolysaccharide model of Alzheimer disease.	El-Sayed NS and Bayan Y, Adv Exp Med Biol. 2015;822:107-18. doi: 10.1007/978-3-319-08927-0_12.
8.	Abeta-degrading endopeptidase, neprilysin, in mouse brain: synaptic and axonal localization inversely correlating with Abeta pathology.	Fukami S, etal., Neurosci Res. 2002 May;43(1):39-56.
9.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
10.	Estrogen regulates neprilysin activity in rat brain.	Huang J, etal., Neurosci Lett. 2004 Aug 26;367(1):85-7.
11.	Increased expression of renal neutral endopeptidase in severe heart failure.	Knecht M, etal., Life Sci. 2002 Oct 25;71(23):2701-12.
12.	Accumulation of murine amyloid-ß mimics early Alzheimer's disease.	Krohn M, etal., Brain. 2015 Aug;138(Pt 8):2370-82. doi: 10.1093/brain/awv137. Epub 2015 May 18.
13.	Targeting the renin-angiotensin system: what's new?	Leckie BJ Curr Med Chem Cardiovasc Hematol Agents. 2005 Jan;3(1):23-32.
14.	No association between polymorphisms in the neprilysin promoter region and Swedish Alzheimer's disease patients.	Lilius L, etal., Neurosci Lett. 2003 Feb 6;337(2):111-3.
15.	The Association of MME microRNA Binding Site Polymorphism with the Risk of Late Onset Alzheimer's Disease in Northern Han Chinese.	Liu CX, etal., Curr Neurovasc Res. 2017;14(2):90-95. doi: 10.2174/1567202614666170313110301.
16.	Naloxone-reversible antidiarrheal effects of enkephalinase inhibitors.	Marçais-Collado H, etal., Eur J Pharmacol. 1987 Dec 1;144(2):125-32.
17.	Neprilysin protects against cerebral amyloid angiopathy and Aß-induced degeneration of cerebrovascular smooth muscle cells.	Miners JS, etal., Brain Pathol. 2011 Sep;21(5):594-605. doi: 10.1111/j.1750-3639.2011.00486.x. Epub 2011 Apr 3.
18.	Decreased expression and activity of neprilysin in Alzheimer disease are associated with cerebral amyloid angiopathy.	Miners JS, etal., J Neuropathol Exp Neurol. 2006 Oct;65(10):1012-21.
19.	Neprilysin and insulin-degrading enzyme levels are increased in Alzheimer disease in relation to disease severity.	Miners JS, etal., J Neuropathol Exp Neurol. 2009 Aug;68(8):902-14. doi: 10.1097/NEN.0b013e3181afe475.
20.	Genetic variation in MME in relation to neprilysin protein and enzyme activity, Aß levels, and Alzheimer's disease risk.	Miners S, etal., Int J Mol Epidemiol Genet. 2012;3(1):30-8. Epub 2012 Feb 5.
21.	The kallikrein-kinin system: current and future pharmacological targets.	Moreau ME, etal., J Pharmacol Sci. 2005 Sep;99(1):6-38.
22.	Expression of neprilysin in periodontitis-affected gingival tissues.	Nezu A, etal., Arch Oral Biol. 2017 Jul;79:35-41. doi: 10.1016/j.archoralbio.2017.03.003. Epub 2017 Mar 6.
23.	Dinucleotide repeat polymorphisms in the neprilysin gene are not associated with sporadic Alzheimer's disease.	Oda M, etal., Neurosci Lett. 2002 Mar 1;320(1-2):105-7.
24.	Effects of a selective neutral endopeptidase and a nonselective neutral endopeptidase/endothelin-converting enzyme inhibitor on lipopolysaccharide-induced endotoxaemia in anaesthetized Sprague-Dawley rats.	Pham D, etal., J Cardiovasc Pharmacol. 2000 Nov;36(5 Suppl 1):S362-6.
25.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
26.	Comparison of angiotensin-converting enzyme (ACE), neutral endopeptidase (NEP) and dual ACE/NEP inhibition on blood pressure and resistance arteries of deoxycorticosterone acetate-salt hypertensive rats.	Pu Q, etal., J Hypertens. 2002 May;20(5):899-907.
27.	A place in our hearts for the lowly angiotensin 1-7 peptide?	Reudelhuber TL Hypertension. 2006 May;47(5):811-5. Epub 2006 Mar 6.
28.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
29.	Ascorbic acid decreases neutral endopeptidase activity in cultured osteoblastic cells.	Schmid C, etal., Regul Pept. 2005 Aug 15;130(1-2):57-66.
30.	Mutation screening and association study of the neprilysin gene in sporadic Alzheimer's disease in Chinese persons.	Shi J, etal., J Gerontol A Biol Sci Med Sci. 2005 Mar;60(3):301-6.
31.	Association between neprilysin polymorphisms and sporadic Alzheimer's disease.	Wood LS, etal., Neurosci Lett. 2007 Nov 5;427(2):103-6. doi: 10.1016/j.neulet.2007.09.019. Epub 2007 Sep 20.
32.	Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients.	Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
33.	[Effects of Naoerkang on expressions of beta-amyloid peptide 1-42 and neprilysin in hippocampus in a rat model of Alzheimer's disease].	Yuan HF, etal., Zhong Xi Yi Jie He Xue Bao. 2010 Feb;8(2):152-7.

Additional References at PubMed

PMID:1660144	PMID:2201681	PMID:2417254	PMID:2521237	PMID:2521388	PMID:2528730	PMID:2531377	PMID:2612455	PMID:2736261	PMID:2968607	PMID:2971756	PMID:2972276
PMID:2984462	PMID:2994530	PMID:3157879	PMID:3162217	PMID:6208535	PMID:6349683	PMID:7532408	PMID:8003005	PMID:8168535	PMID:8631021	PMID:8687431	PMID:8943850
PMID:9232196	PMID:9247159	PMID:9313778	PMID:9659899	PMID:9857225	PMID:10669592	PMID:11104793	PMID:11140838	PMID:11170145	PMID:11367540	PMID:11906289	PMID:12070597
PMID:12087466	PMID:12102663	PMID:12105192	PMID:12140380	PMID:12150966	PMID:12203213	PMID:12387451	PMID:12393702	PMID:12447961	PMID:12477932	PMID:12485446	PMID:12529960
PMID:12657655	PMID:12754344	PMID:12754519	PMID:12785004	PMID:14550292	PMID:14673956	PMID:14739539	PMID:14747736	PMID:14749127	PMID:14749444	PMID:14767532	PMID:14968440
PMID:15047060	PMID:15100223	PMID:15205682	PMID:15217945	PMID:15283675	PMID:15286660	PMID:15294904	PMID:15469471	PMID:15489334	PMID:15502805	PMID:15548496	PMID:15578072
PMID:15668537	PMID:15720419	PMID:15785408	PMID:15870909	PMID:15945081	PMID:16123216	PMID:16226260	PMID:16344560	PMID:16400325	PMID:16652149	PMID:16700740	PMID:16722930
PMID:16857799	PMID:16877296	PMID:16900210	PMID:16900384	PMID:16940054	PMID:16943769	PMID:16948517	PMID:16984256	PMID:17101991	PMID:17207277	PMID:17220478	PMID:17294442
PMID:17296585	PMID:17335564	PMID:17342744	PMID:17363457	PMID:17591969	PMID:17662271	PMID:17712175	PMID:17845760	PMID:17876294	PMID:17885484	PMID:17906676	PMID:17953966
PMID:18042078	PMID:18092952	PMID:18182043	PMID:18292286	PMID:18370954	PMID:18393807	PMID:18518902	PMID:18539150	PMID:18545147	PMID:18602473	PMID:18605079	PMID:18619643
PMID:18806483	PMID:19019493	PMID:19047112	PMID:19056867	PMID:19057576	PMID:19127446	PMID:19152193	PMID:19196432	PMID:19250583	PMID:19287335	PMID:19288202	PMID:19326964
PMID:19437324	PMID:19448593	PMID:19515046	PMID:19575892	PMID:19656156	PMID:19661328	PMID:19752720	PMID:19787248	PMID:19816087	PMID:19817893	PMID:19864659	PMID:19897485
PMID:19925052	PMID:19948975	PMID:19961253	PMID:20014550	PMID:20051779	PMID:20051780	PMID:20061637	PMID:20079015	PMID:20105452	PMID:20175824	PMID:20184665	PMID:20204382
PMID:20301317	PMID:20301462	PMID:20301532	PMID:20376800	PMID:20390424	PMID:20459800	PMID:20468064	PMID:20506111	PMID:20546336	PMID:20574156	PMID:20663017	PMID:20685603
PMID:20711432	PMID:20716621	PMID:20856894	PMID:20858953	PMID:20876573	PMID:20886092	PMID:20947507	PMID:20957047	PMID:21052031	PMID:21076839	PMID:21225496	PMID:21315759
PMID:21365649	PMID:21423176	PMID:21425402	PMID:21499231	PMID:21515054	PMID:21585282	PMID:21609487	PMID:21651905	PMID:21666788	PMID:21677537	PMID:21681600	PMID:21775056
PMID:21804528	PMID:21835428	PMID:21873635	PMID:21877416	PMID:21883368	PMID:21988858	PMID:21989348	PMID:22006372	PMID:22014058	PMID:22024547	PMID:22183801	PMID:22257901
PMID:22261707	PMID:22272689	PMID:22286396	PMID:22300665	PMID:22371247	PMID:22384224	PMID:22410801	PMID:22417750	PMID:22464152	PMID:22492182	PMID:22572771	PMID:22767595
PMID:22880404	PMID:22898766	PMID:22994707	PMID:23063927	PMID:23065018	PMID:23138928	PMID:23219141	PMID:23289620	PMID:23333304	PMID:23339695	PMID:23348903	PMID:23356903
PMID:23360525	PMID:23376485	PMID:23509938	PMID:23533145	PMID:23566254	PMID:23575921	PMID:23653392	PMID:23686701	PMID:23752268	PMID:23827863	PMID:23838604	PMID:23857215
PMID:23863409	PMID:23867815	PMID:24040464	PMID:24099862	PMID:24460801	PMID:24603459	PMID:24754336	PMID:24825898	PMID:24848988	PMID:24874475	PMID:24895167	PMID:24972738
PMID:25125048	PMID:25279712	PMID:25282623	PMID:25308002	PMID:25452160	PMID:25608772	PMID:25713420	PMID:25733581	PMID:25759539	PMID:25921112	PMID:26124315	PMID:26141216
PMID:26362309	PMID:26414904	PMID:26562027	PMID:26573127	PMID:26609034	PMID:26830028	PMID:26846903	PMID:26881775	PMID:26991897	PMID:27039776	PMID:27096746	PMID:27342126
PMID:27513891	PMID:27588448	PMID:27616053	PMID:27641335	PMID:28514442	PMID:28553432	PMID:28611215	PMID:28628241	PMID:29056123	PMID:29196110	PMID:29306324	PMID:29323711
PMID:29330223	PMID:29339171	PMID:29367254	PMID:29509190	PMID:29561187	PMID:29653092	PMID:29791034	PMID:29854824	PMID:30097533	PMID:30249887	PMID:30251808	PMID:30415211
PMID:30711939	PMID:30796257	PMID:30828920	PMID:31054987	PMID:31189595	PMID:31266021	PMID:31383639	PMID:31514225	PMID:31536960	PMID:31586073	PMID:31816181	PMID:32012940
PMID:32070494	PMID:32272124	PMID:32364682	PMID:32427034	PMID:32545905	PMID:32592351	PMID:32762650	PMID:32814053	PMID:32814769	PMID:32967374	PMID:32987038	PMID:33131987
PMID:33144514	PMID:33244333	PMID:33314757	PMID:33342805	PMID:33393317	PMID:33406387	PMID:33444077	PMID:33541392	PMID:33608777	PMID:33726789	PMID:33961781	PMID:34341253
PMID:34502327	PMID:34505762	PMID:34507663	PMID:34528537	PMID:34654055	PMID:34689374	PMID:34831146	PMID:34844098	PMID:34958060	PMID:35034907	PMID:35202745	PMID:35212467
PMID:35636508	PMID:35815076	PMID:35948857	PMID:36215168	PMID:36543142	PMID:36685105	PMID:36811498	PMID:36976322	PMID:37232246	PMID:37585411	PMID:38229323	PMID:38428725
PMID:38860315	PMID:39232784

Genomics

Comparative Map Data

MME
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	155,024,202 - 155,183,729 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	155,024,124 - 155,183,704 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	154,741,991 - 154,901,518 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	156,280,130 - 156,384,212 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	3	156,280,756 - 156,384,194	NCBI
Celera	3	153,217,556 - 153,321,523 (+)	NCBI		Celera
Cytogenetic Map	3	q25.2	NCBI
HuRef	3	152,191,860 - 152,295,862 (+)	NCBI		HuRef
CHM1_1	3	154,760,481 - 154,864,540 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	3	157,798,155 - 157,957,709 (+)	NCBI		T2T-CHM13v2.0

Mme
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	3	63,202,632 - 63,291,134 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	3	63,148,958 - 63,293,451 (+)	Ensembl		GRCm39 Ensembl
GRCm38	3	63,295,211 - 63,383,713 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	3	63,241,537 - 63,386,030 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	3	63,099,794 - 63,186,153 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	3	63,383,801 - 63,470,160 (+)	NCBI		MGSCv36	mm8
Celera	3	62,969,256 - 63,055,608 (+)	NCBI		Celera
Cytogenetic Map	3	E1	NCBI
cM Map	3	29.97	NCBI

Mme
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	2	149,806,826 - 149,957,381 (+)	NCBI		GRCr8
mRatBN7.2	2	147,686,913 - 147,803,808 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	147,722,086 - 147,803,792 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	154,412,545 - 154,499,268 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	2	152,461,414 - 152,548,760 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	2	147,094,065 - 147,181,452 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	2	153,799,203 - 153,880,910 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	153,803,349 - 153,880,738 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	173,193,501 - 173,278,946 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	153,031,724 - 153,114,515 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	2	152,981,686 - 153,064,477 (+)	NCBI
Celera	2	142,009,686 - 142,090,693 (+)	NCBI		Celera
RH 3.4 Map	2	955.0	RGD
Cytogenetic Map	2	q31	NCBI

Mme
(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_004955448	6,226,059 - 6,314,949 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955448	6,193,113 - 6,311,666 (+)	NCBI	ChiLan1.0	ChiLan1.0

MME
(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	2	152,997,962 - 153,099,218 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	3	152,949,064 - 153,103,948 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	3	152,085,694 - 152,240,148 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	3	159,637,965 - 160,292,119 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	3	160,197,566 - 160,292,119 (+)	Ensembl	panpan1.1		panPan2

MME
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	23	48,966,222 - 49,059,919 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	23	48,971,066 - 49,059,919 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	23	48,843,474 - 48,934,858 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	23	49,596,559 - 49,692,908 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	23	49,593,076 - 49,694,136 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	23	49,187,708 - 49,279,020 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	23	49,238,095 - 49,328,993 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	23	49,521,230 - 49,612,145 (+)	NCBI		UU_Cfam_GSD_1.0

Mme
(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_024405602	87,138,054 - 87,220,087 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936519	2,513,704 - 2,595,971 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936519	2,513,896 - 2,595,896 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MME
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	95,019,081 - 95,126,045 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	95,018,395 - 95,122,977 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	13	103,025,551 - 103,128,284 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MME
(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	15	35,577,460 - 35,681,730 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	15	35,580,714 - 35,633,914 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666041	8,227,922 - 8,338,216 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mme
(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_004624730	32,601,488 - 32,689,080 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624730	32,601,835 - 32,691,368 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in MME
566 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_007289.4(MME):c.1515T>G (p.Asp505Glu)	single nucleotide variant	not provided [RCV000521726]	Chr3:155148567 [GRCh38] Chr3:154866356 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1781-2A>G	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV002290970]\|not provided [RCV000520604]	Chr3:155168490 [GRCh38] Chr3:154886279 [GRCh37] Chr3:3q25.2	pathogenic\|likely pathogenic
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	copy number gain	See cases [RCV000051724]	Chr3:147442566..178522531 [GRCh38] Chr3:147160353..178240319 [GRCh37] Chr3:148643043..179723013 [NCBI36] Chr3:3q24-26.32	pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	copy number gain	See cases [RCV000051725]	Chr3:147521892..198096565 [GRCh38] Chr3:147239679..197823436 [GRCh37] Chr3:148722369..199307833 [NCBI36] Chr3:3q24-29	pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]\|See cases [RCV000051723]	Chr3:137126982..198110178 [GRCh38] Chr3:136845824..197837049 [GRCh37] Chr3:138328514..199321446 [NCBI36] Chr3:3q22.3-29	pathogenic
GRCh38/hg38 3q25.2(chr3:154843789-155242564)x1	copy number loss	See cases [RCV000053995]	Chr3:154843789..155242564 [GRCh38] Chr3:154561578..154960353 [GRCh37] Chr3:156044272..156443047 [NCBI36] Chr3:3q25.2	uncertain significance
GRCh38/hg38 3q25.2-25.31(chr3:154870557-155444826)x1	copy number loss	See cases [RCV000053996]	Chr3:154870557..155444826 [GRCh38] Chr3:154588346..155162615 [GRCh37] Chr3:156071040..156645309 [NCBI36] Chr3:3q25.2-25.31	uncertain significance
NM_000902.3(MME):c.466delC (p.Pro156Leufs)	deletion	Charcot-Marie-Tooth disease, axonal, type 2T [RCV000255813]	Chr3:155116690 [GRCh38] Chr3:154834479 [GRCh37] Chr3:3q25.2	risk factor
NM_007289.4(MME):c.71G>A (p.Trp24Ter)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV000254899]\|not provided [RCV003556303]	Chr3:155084238 [GRCh38] Chr3:154802027 [GRCh37] Chr3:3q25.2	pathogenic\|risk factor
NM_007289.4(MME):c.1265C>A (p.Ala422Asp)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV000255510]\|not provided [RCV002508208]	Chr3:155143519 [GRCh38] Chr3:154861308 [GRCh37] Chr3:3q25.2	risk factor\|uncertain significance
NM_007289.4(MME):c.654+1G>A	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV000234889]	Chr3:155116987 [GRCh38] Chr3:154834776 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.439+2T>A	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV000234893]	Chr3:155116561 [GRCh38] Chr3:154834350 [GRCh37] Chr3:3q25.2	pathogenic\|likely pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	copy number gain	See cases [RCV000134948]	Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29	pathogenic
GRCh38/hg38 3q25.2(chr3:154817795-155269377)x1	copy number loss	See cases [RCV000136923]	Chr3:154817795..155269377 [GRCh38] Chr3:154535584..154987166 [GRCh37] Chr3:156018278..156469860 [NCBI36] Chr3:3q25.2	uncertain significance
GRCh38/hg38 3q25.2(chr3:154358336-155102453)x1	copy number loss	See cases [RCV000137754]	Chr3:154358336..155102453 [GRCh38] Chr3:154076125..154820242 [GRCh37] Chr3:155558819..156302936 [NCBI36] Chr3:3q25.2	likely benign
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	copy number gain	See cases [RCV000139435]	Chr3:152100512..198118383 [GRCh38] Chr3:151818301..197845254 [GRCh37] Chr3:153300991..199329651 [NCBI36] Chr3:3q25.1-29	pathogenic
GRCh38/hg38 3q25.1-25.2(chr3:151429416-155118646)x1	copy number loss	See cases [RCV000141813]	Chr3:151429416..155118646 [GRCh38] Chr3:151147204..154836435 [GRCh37] Chr3:152629894..156319129 [NCBI36] Chr3:3q25.1-25.2	likely pathogenic
NM_007289.4(MME):c.1861T>C (p.Cys621Arg)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV000234863]\|Peripheral neuropathy [RCV001814126]	Chr3:155168572 [GRCh38] Chr3:154886361 [GRCh37] Chr3:3q25.2	pathogenic\|likely pathogenic
NM_007289.4(MME):c.661C>T (p.Gln221Ter)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV000234916]	Chr3:155118752 [GRCh38] Chr3:154836541 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.655-2A>G	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV000234912]	Chr3:155118744 [GRCh38] Chr3:154836533 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.428G>A (p.Cys143Tyr)	single nucleotide variant	Spinocerebellar ataxia 43 [RCV000239627]	Chr3:155116548 [GRCh38] Chr3:154834337 [GRCh37] Chr3:3q25.2	pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	copy number gain	See cases [RCV000240256]	Chr3:142995020..192997215 [GRCh37] Chr3:3q24-29	pathogenic
NM_007289.4(MME):c.-10-1G>T	single nucleotide variant	not provided [RCV000489119]	Chr3:155084157 [GRCh38] Chr3:154801946 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2154-13G>A	single nucleotide variant	not provided [RCV001565767]	Chr3:155180347 [GRCh38] Chr3:154898136 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1771G>A (p.Asp591Asn)	single nucleotide variant	not provided [RCV000489687]	Chr3:155167012 [GRCh38] Chr3:154884801 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1946T>C (p.Ile649Thr)	single nucleotide variant	not provided [RCV000489719]	Chr3:155168763 [GRCh38] Chr3:154886552 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.877C>T (p.Arg293Ter)	single nucleotide variant	not provided [RCV000523684]	Chr3:155140212 [GRCh38] Chr3:154858001 [GRCh37] Chr3:3q25.2	pathogenic\|likely pathogenic
NM_007289.4(MME):c.467del (p.Pro156fs)	deletion	Charcot-Marie-Tooth disease axonal type 2T [RCV000255813]\|Charcot-Marie-Tooth disease type 2T [RCV003993985]\|Spinocerebellar ataxia 43 [RCV001196532]\|not provided [RCV000489776]	Chr3:155116690 [GRCh38] Chr3:154834479 [GRCh37] Chr3:3q25.2	pathogenic\|likely pathogenic\|risk factor
NM_007289.4(MME):c.1175A>G (p.Asn392Ser)	single nucleotide variant	not provided [RCV003239014]	Chr3:155142317 [GRCh38] Chr3:154860106 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1580G>A (p.Arg527Gln)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV003992338]\|Inborn genetic diseases [RCV003352929]\|not provided [RCV000584870]	Chr3:155148632 [GRCh38] Chr3:154866421 [GRCh37] Chr3:3q25.2	uncertain significance
GRCh37/hg19 3q25.2(chr3:154862154-154987107)x1	copy number loss	See cases [RCV000446332]	Chr3:154862154..154987107 [GRCh37] Chr3:3q25.2	likely benign
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1	copy number loss	See cases [RCV000448130]	Chr3:147180945..168415875 [GRCh37] Chr3:3q24-26.2	pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3	copy number gain	See cases [RCV000448608]	Chr3:152356847..197851986 [GRCh37] Chr3:3q25.2-29	pathogenic
NM_007289.4(MME):c.1272del (p.Arg425fs)	deletion	Charcot-Marie-Tooth disease axonal type 2T [RCV000454474]\|not provided [RCV001821217]	Chr3:155143523 [GRCh38] Chr3:154861312 [GRCh37] Chr3:3q25.2	likely pathogenic\|uncertain significance
NM_007289.4(MME):c.1904G>A (p.Gly635Asp)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV000455118]	Chr3:155168615 [GRCh38] Chr3:154886404 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1564C>T (p.Gln522Ter)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV001290399]\|not provided [RCV000498717]	Chr3:155148616 [GRCh38] Chr3:154866405 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.440-2A>C	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV003492079]\|not provided [RCV000497353]	Chr3:155116662 [GRCh38] Chr3:154834451 [GRCh37] Chr3:3q25.2	pathogenic\|likely pathogenic
NM_007289.4(MME):c.1497+1G>C	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV003492080]\|not provided [RCV000497869]	Chr3:155147225 [GRCh38] Chr3:154865014 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.1624G>A (p.Val542Ile)	single nucleotide variant	Inborn genetic diseases [RCV003259795]	Chr3:155160412 [GRCh38] Chr3:154878201 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1342C>T (p.Arg448Ter)	single nucleotide variant	Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization [RCV000614012]\|MME-related disorder [RCV004751626]\|Spinocerebellar ataxia 43 [RCV001196533]\|not provided [RCV001783108]	Chr3:155144383 [GRCh38] Chr3:154862172 [GRCh37] Chr3:3q25.2	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	copy number gain	See cases [RCV000511055]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	copy number gain	See cases [RCV000512358]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
NM_007289.4(MME):c.359-3C>T	single nucleotide variant	not specified [RCV000614232]	Chr3:155116476 [GRCh38] Chr3:154834265 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1033G>A (p.Val345Ile)	single nucleotide variant	not provided [RCV000585400]	Chr3:155142066 [GRCh38] Chr3:154859855 [GRCh37] Chr3:3q25.2	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_007289.4(MME):c.516A>T (p.Glu172Asp)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV002221566]\|Inborn genetic diseases [RCV000624676]\|not provided [RCV002531903]	Chr3:155116740 [GRCh38] Chr3:154834529 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1946T>G (p.Ile649Ser)	single nucleotide variant	Spinocerebellar ataxia 43 [RCV001198005]\|not provided [RCV000658980]	Chr3:155168763 [GRCh38] Chr3:154886552 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.769C>A (p.Arg257Ser)	single nucleotide variant	Autosomal recessive axonal hereditary motor and sensory neuropathy [RCV000664251]\|not provided [RCV002530625]	Chr3:155138150 [GRCh38] Chr3:154855939 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1602-294C>T	single nucleotide variant	not provided [RCV001575012]	Chr3:155160096 [GRCh38] Chr3:154877885 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.311A>G (p.Tyr104Cys)	single nucleotide variant	not provided [RCV001566975]	Chr3:155115108 [GRCh38] Chr3:154832897 [GRCh37] Chr3:3q25.2	uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3	copy number gain	not provided [RCV000742138]	Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3	copy number gain	not provided [RCV000742133]	Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29	pathogenic
NM_007289.4(MME):c.1666C>T (p.Pro556Ser)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV000754741]	Chr3:155166907 [GRCh38] Chr3:154884696 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.1972G>A (p.Ala658Thr)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV000754742]	Chr3:155168789 [GRCh38] Chr3:154886578 [GRCh37] Chr3:3q25.2	likely pathogenic
GRCh37/hg19 3q25.2-25.31(chr3:154551924-155034166)x1	copy number loss	not provided [RCV000742893]	Chr3:154551924..155034166 [GRCh37] Chr3:3q25.2-25.31	benign
GRCh37/hg19 3q25.2(chr3:154827008-154830469)x1	copy number loss	not provided [RCV000742894]	Chr3:154827008..154830469 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.1189-4G>A	single nucleotide variant	Peripheral neuropathy [RCV001541902]\|not provided [RCV002071960]	Chr3:155143439 [GRCh38] Chr3:154861228 [GRCh37] Chr3:3q25.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_007289.4(MME):c.2153+125dup	duplication	not provided [RCV001611253]	Chr3:155172723..155172724 [GRCh38] Chr3:154890512..154890513 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.1416+144T>A	single nucleotide variant	not provided [RCV001667731]	Chr3:155144601 [GRCh38] Chr3:154862390 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.1915-12C>G	single nucleotide variant	not provided [RCV001574501]	Chr3:155168720 [GRCh38] Chr3:154886509 [GRCh37] Chr3:3q25.2	benign\|likely benign
NM_007289.4(MME):c.1781-3T>C	single nucleotide variant	not provided [RCV001645619]	Chr3:155168489 [GRCh38] Chr3:154886278 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.160+2T>C	single nucleotide variant	not provided [RCV000762124]	Chr3:155084329 [GRCh38] Chr3:154802118 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.160+8A>G	single nucleotide variant	not provided [RCV000762125]	Chr3:155084335 [GRCh38] Chr3:154802124 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1579C>T (p.Arg527Ter)	single nucleotide variant	not provided [RCV000762126]	Chr3:155148631 [GRCh38] Chr3:154866420 [GRCh37] Chr3:3q25.2	pathogenic\|likely pathogenic
NM_007289.4(MME):c.1921G>A (p.Gly641Arg)	single nucleotide variant	not provided [RCV000762127]	Chr3:155168738 [GRCh38] Chr3:154886527 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2072C>T (p.Ala691Val)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV001002777]	Chr3:155172208 [GRCh38] Chr3:154889997 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.957+141_957+142dup	duplication	not provided [RCV001645854]	Chr3:155140410..155140411 [GRCh38] Chr3:154858199..154858200 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.*163G>C	single nucleotide variant	not provided [RCV001580951]	Chr3:155180622 [GRCh38] Chr3:154898411 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.439+32TA[12]	microsatellite	not provided [RCV001724475]	Chr3:155116590..155116591 [GRCh38] Chr3:154834379..154834380 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.2153+124_2153+125dup	duplication	not provided [RCV001548434]	Chr3:155172723..155172724 [GRCh38] Chr3:154890512..154890513 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2133G>A (p.Val711=)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV002501358]\|MME-related disorder [RCV003983236]\|not provided [RCV000879060]	Chr3:155172592 [GRCh38] Chr3:154890381 [GRCh37] Chr3:3q25.2	benign\|likely benign
NM_007289.4(MME):c.1950T>A (p.Ala650=)	single nucleotide variant	not provided [RCV000925986]	Chr3:155168767 [GRCh38] Chr3:154886556 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1191C>T (p.Ala397=)	single nucleotide variant	not provided [RCV000884485]	Chr3:155143445 [GRCh38] Chr3:154861234 [GRCh37] Chr3:3q25.2	benign\|likely benign
NM_007289.4(MME):c.900T>C (p.Tyr300=)	single nucleotide variant	not provided [RCV000976733]	Chr3:155140235 [GRCh38] Chr3:154858024 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.855+6A>T	single nucleotide variant	not provided [RCV000964842]	Chr3:155138242 [GRCh38] Chr3:154856031 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.495T>C (p.Tyr165=)	single nucleotide variant	not provided [RCV000940166]	Chr3:155116719 [GRCh38] Chr3:154834508 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.1251G>A (p.Gly417=)	single nucleotide variant	not provided [RCV000896801]	Chr3:155143505 [GRCh38] Chr3:154861294 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.1095-4A>G	single nucleotide variant	not provided [RCV000938128]	Chr3:155142233 [GRCh38] Chr3:154860022 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.161-9T>C	single nucleotide variant	not provided [RCV000915588]	Chr3:155085050 [GRCh38] Chr3:154802839 [GRCh37] Chr3:3q25.2	benign
GRCh37/hg19 3q25.2(chr3:154768835-154815399)x1	copy number loss	not provided [RCV000848952]	Chr3:154768835..154815399 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1032G>T (p.Val344=)	single nucleotide variant	not provided [RCV000896800]	Chr3:155142065 [GRCh38] Chr3:154859854 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.1241A>G (p.Tyr414Cys)	single nucleotide variant	Early-onset dementia of unclear type [RCV001090111]\|not provided [RCV001873446]	Chr3:155143495 [GRCh38] Chr3:154861284 [GRCh37] Chr3:3q25.2	likely benign\|uncertain significance
GRCh37/hg19 3q25.2(chr3:154580682-154815399)x1	copy number loss	not provided [RCV000847532]	Chr3:154580682..154815399 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1706A>C (p.Gln569Pro)	single nucleotide variant	Spinocerebellar ataxia 43 [RCV001253639]\|not provided [RCV000998153]	Chr3:155166947 [GRCh38] Chr3:154884736 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1933C>A (p.Leu645Met)	single nucleotide variant	not provided [RCV001057666]	Chr3:155168750 [GRCh38] Chr3:154886539 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.674G>C (p.Gly225Ala)	single nucleotide variant	not provided [RCV000891593]	Chr3:155118765 [GRCh38] Chr3:154836554 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV003147571]\|Hereditary breast ovarian cancer syndrome [RCV001374536]\|Spinocerebellar ataxia 43 [RCV001198006]\|not provided [RCV000998151]\|not specified [RCV003387952]	Chr3:155142073 [GRCh38] Chr3:154859862 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.531del (p.Lys177fs)	deletion	Charcot-Marie-Tooth disease axonal type 2T [RCV001353159]\|not provided [RCV001009319]	Chr3:155116751 [GRCh38] Chr3:154834540 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.436_439+1delinsC	indel	not provided [RCV001239732]	Chr3:155116556..155116560 [GRCh38] Chr3:154834345..154834349 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.1735G>A (p.Gly579Ser)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001824932]\|Spinocerebellar ataxia 43 [RCV001198856]\|not provided [RCV001797160]	Chr3:155166976 [GRCh38] Chr3:154884765 [GRCh37] Chr3:3q25.2	uncertain significance\|not provided
NM_007289.4(MME):c.1945A>C (p.Ile649Leu)	single nucleotide variant	not provided [RCV000998154]	Chr3:155168762 [GRCh38] Chr3:154886551 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1400dup (p.Arg468fs)	duplication	Charcot-Marie-Tooth disease axonal type 2T [RCV001542567]\|not provided [RCV001204527]	Chr3:155144435..155144436 [GRCh38] Chr3:154862224..154862225 [GRCh37] Chr3:3q25.2	pathogenic\|likely pathogenic
NM_007289.4(MME):c.197-3C>T	single nucleotide variant	not provided [RCV003992760]\|not specified [RCV003317893]	Chr3:155114991 [GRCh38] Chr3:154832780 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2059T>A (p.Phe687Ile)	single nucleotide variant	not provided [RCV001091206]	Chr3:155172195 [GRCh38] Chr3:154889984 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.958-78C>A	single nucleotide variant	not provided [RCV001568671]	Chr3:155141913 [GRCh38] Chr3:154859702 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2153+111C>T	single nucleotide variant	not provided [RCV001581412]	Chr3:155172723 [GRCh38] Chr3:154890512 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1660+36T>C	single nucleotide variant	not provided [RCV001566508]	Chr3:155160484 [GRCh38] Chr3:154878273 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.655-121T>C	single nucleotide variant	not provided [RCV001548118]	Chr3:155118625 [GRCh38] Chr3:154836414 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.138C>T (p.Ile46=)	single nucleotide variant	not provided [RCV003106781]\|not specified [RCV004587464]	Chr3:155084305 [GRCh38] Chr3:154802094 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1189-324A>G	single nucleotide variant	not provided [RCV001673386]	Chr3:155143119 [GRCh38] Chr3:154860908 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.2050C>T (p.Gln684Ter)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV001542568]\|not provided [RCV001859360]	Chr3:155172186 [GRCh38] Chr3:154889975 [GRCh37] Chr3:3q25.2	pathogenic\|likely pathogenic
NM_007289.4(MME):c.160+13C>T	single nucleotide variant	not provided [RCV001550615]	Chr3:155084340 [GRCh38] Chr3:154802129 [GRCh37] Chr3:3q25.2	benign\|likely benign
NM_007289.4(MME):c.721-282T>C	single nucleotide variant	not provided [RCV001598867]	Chr3:155137820 [GRCh38] Chr3:154855609 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.957+142dup	duplication	not provided [RCV001638335]	Chr3:155140410..155140411 [GRCh38] Chr3:154858199..154858200 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.2076+36C>A	single nucleotide variant	not provided [RCV001651533]	Chr3:155172248 [GRCh38] Chr3:154890037 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.2154-22A>G	single nucleotide variant	not provided [RCV001674306]	Chr3:155180338 [GRCh38] Chr3:154898127 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.855+43C>T	single nucleotide variant	not provided [RCV001562155]	Chr3:155138279 [GRCh38] Chr3:154856068 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.196+133T>G	single nucleotide variant	not provided [RCV001592285]	Chr3:155085227 [GRCh38] Chr3:154803016 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.957+142del	deletion	not provided [RCV001620412]	Chr3:155140411 [GRCh38] Chr3:154858200 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.958-130C>G	single nucleotide variant	not provided [RCV001615966]	Chr3:155141861 [GRCh38] Chr3:154859650 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.1498-330C>T	single nucleotide variant	not provided [RCV001563147]	Chr3:155148220 [GRCh38] Chr3:154866009 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.957+141_957+142del	deletion	not provided [RCV001714176]	Chr3:155140411..155140412 [GRCh38] Chr3:154858200..154858201 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.161-11C>T	single nucleotide variant	not provided [RCV001566977]	Chr3:155085048 [GRCh38] Chr3:154802837 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.160+15C>T	single nucleotide variant	not provided [RCV001559706]	Chr3:155084342 [GRCh38] Chr3:154802131 [GRCh37] Chr3:3q25.2	benign\|likely benign
NM_007289.4(MME):c.2154-282G>T	single nucleotide variant	not provided [RCV001547783]	Chr3:155180078 [GRCh38] Chr3:154897867 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.197-4G>C	single nucleotide variant	not provided [RCV000911014]	Chr3:155114990 [GRCh38] Chr3:154832779 [GRCh37] Chr3:3q25.2	benign\|likely benign
NM_007289.4(MME):c.2053C>T (p.Leu685=)	single nucleotide variant	not provided [RCV000919801]	Chr3:155172189 [GRCh38] Chr3:154889978 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1944C>T (p.Asn648=)	single nucleotide variant	not provided [RCV000920427]	Chr3:155168761 [GRCh38] Chr3:154886550 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.294C>T (p.Pro98=)	single nucleotide variant	not provided [RCV000929325]	Chr3:155115091 [GRCh38] Chr3:154832880 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1094+5G>A	single nucleotide variant	not provided [RCV000998152]	Chr3:155142132 [GRCh38] Chr3:154859921 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.786G>A (p.Leu262=)	single nucleotide variant	not provided [RCV000889559]	Chr3:155138167 [GRCh38] Chr3:154855956 [GRCh37] Chr3:3q25.2	benign\|likely benign
NM_007289.4(MME):c.1047A>G (p.Pro349=)	single nucleotide variant	not provided [RCV000889560]	Chr3:155142080 [GRCh38] Chr3:154859869 [GRCh37] Chr3:3q25.2	benign\|likely benign
NM_007289.4(MME):c.1255A>C (p.Met419Leu)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV002502973]\|not provided [RCV000956148]	Chr3:155143509 [GRCh38] Chr3:154861298 [GRCh37] Chr3:3q25.2	benign\|likely benign
NM_007289.4(MME):c.1752C>T (p.His584=)	single nucleotide variant	not provided [RCV000934274]	Chr3:155166993 [GRCh38] Chr3:154884782 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.-10-312C>T	single nucleotide variant	not provided [RCV001569876]	Chr3:155083846 [GRCh38] Chr3:154801635 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1601+5G>A	single nucleotide variant	not provided [RCV001557145]	Chr3:155148658 [GRCh38] Chr3:154866447 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1660+278_1660+282del	microsatellite	not provided [RCV001557564]	Chr3:155160718..155160722 [GRCh38] Chr3:154878507..154878511 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2153+234C>T	single nucleotide variant	not provided [RCV001552525]	Chr3:155172846 [GRCh38] Chr3:154890635 [GRCh37] Chr3:3q25.2	likely benign
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	copy number gain	not provided [RCV002472621]	Chr3:116620308..172042292 [GRCh37] Chr3:3q13.31-26.31	pathogenic
NM_007289.4(MME):c.239G>A (p.Cys80Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004039306]\|not provided [RCV001555717]	Chr3:155115036 [GRCh38] Chr3:154832825 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1417-186T>C	single nucleotide variant	not provided [RCV001550500]	Chr3:155146958 [GRCh38] Chr3:154864747 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.-10-17A>G	single nucleotide variant	not provided [RCV001556449]	Chr3:155084141 [GRCh38] Chr3:154801930 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2221A>G (p.Met741Val)	single nucleotide variant	Inborn genetic diseases [RCV003295134]	Chr3:155180427 [GRCh38] Chr3:154898216 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.655-186G>A	single nucleotide variant	not provided [RCV001589363]	Chr3:155118560 [GRCh38] Chr3:154836349 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1602-86G>A	single nucleotide variant	not provided [RCV001538768]	Chr3:155160304 [GRCh38] Chr3:154878093 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.161-106T>G	single nucleotide variant	not provided [RCV001660986]	Chr3:155084953 [GRCh38] Chr3:154802742 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.655-153A>T	single nucleotide variant	not provided [RCV001652647]	Chr3:155118593 [GRCh38] Chr3:154836382 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.*167G>T	single nucleotide variant	not provided [RCV001675401]	Chr3:155180626 [GRCh38] Chr3:154898415 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.1601+103A>C	single nucleotide variant	not provided [RCV001686643]	Chr3:155148756 [GRCh38] Chr3:154866545 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.359-269dup	duplication	not provided [RCV001658510]	Chr3:155116196..155116197 [GRCh38] Chr3:154833985..154833986 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.197-15T>G	single nucleotide variant	not provided [RCV001637909]	Chr3:155114979 [GRCh38] Chr3:154832768 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.958-199G>A	single nucleotide variant	not provided [RCV001613732]	Chr3:155141792 [GRCh38] Chr3:154859581 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.-10-210A>G	single nucleotide variant	not provided [RCV001671010]	Chr3:155083948 [GRCh38] Chr3:154801737 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.957+77C>T	single nucleotide variant	not provided [RCV001678293]	Chr3:155140369 [GRCh38] Chr3:154858158 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.1601+11T>C	single nucleotide variant	not provided [RCV001693902]	Chr3:155148664 [GRCh38] Chr3:154866453 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.358+265TTTG[4]	microsatellite	not provided [RCV001620528]	Chr3:155115420..155115423 [GRCh38] Chr3:154833209..154833212 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.22A>G (p.Met8Val)	single nucleotide variant	MME-related disorder [RCV003980740]\|not provided [RCV001598793]	Chr3:155084189 [GRCh38] Chr3:154801978 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.68G>A (p.Arg23Gln)	single nucleotide variant	not provided [RCV001592612]	Chr3:155084235 [GRCh38] Chr3:154802024 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.202C>T (p.Arg68Ter)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV001255622]\|not provided [RCV001056048]	Chr3:155114999 [GRCh38] Chr3:154832788 [GRCh37] Chr3:3q25.2	pathogenic\|likely pathogenic
NM_007289.4(MME):c.2067C>A (p.Asn689Lys)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV003992442]\|not provided [RCV001092434]\|not specified [RCV003987781]	Chr3:155172203 [GRCh38] Chr3:154889992 [GRCh37] Chr3:3q25.2	likely pathogenic\|uncertain significance
NM_007289.4(MME):c.358+274T>C	single nucleotide variant	not provided [RCV001710609]	Chr3:155115429 [GRCh38] Chr3:154833218 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.680C>T (p.Pro227Leu)	single nucleotide variant	not provided [RCV001532013]	Chr3:155118771 [GRCh38] Chr3:154836560 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.197-104G>A	single nucleotide variant	not provided [RCV001589385]	Chr3:155114890 [GRCh38] Chr3:154832679 [GRCh37] Chr3:3q25.2	likely benign
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	copy number gain	See cases [RCV001194586]	Chr3:138145289..162275610 [GRCh37] Chr3:3q22.3-26.1	pathogenic
NM_007289.4(MME):c.196+37T>C	single nucleotide variant	not provided [RCV001649860]	Chr3:155085131 [GRCh38] Chr3:154802920 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.439+32TA[9]	microsatellite	not provided [RCV001685859]	Chr3:155116590..155116591 [GRCh38] Chr3:154834379..154834380 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.856-83C>T	single nucleotide variant	not provided [RCV001679909]	Chr3:155140108 [GRCh38] Chr3:154857897 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.358+84_358+90del	deletion	not provided [RCV001609231]	Chr3:155115239..155115245 [GRCh38] Chr3:154833028..154833034 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.720+130T>C	single nucleotide variant	not provided [RCV001584744]	Chr3:155118941 [GRCh38] Chr3:154836730 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.*159C>T	single nucleotide variant	not provided [RCV001696357]	Chr3:155180618 [GRCh38] Chr3:154898407 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.2154G>T (p.Arg718Ser)	single nucleotide variant	Spinocerebellar ataxia 43 [RCV001647168]\|not provided [RCV002546242]	Chr3:155180360 [GRCh38] Chr3:154898149 [GRCh37] Chr3:3q25.2	pathogenic\|uncertain significance
NM_007289.4(MME):c.2153+129A>C	single nucleotide variant	not provided [RCV001641674]	Chr3:155172741 [GRCh38] Chr3:154890530 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.359-269del	deletion	not provided [RCV001648422]	Chr3:155116197 [GRCh38] Chr3:154833986 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.1602-20del	deletion	not provided [RCV001643278]	Chr3:155160370 [GRCh38] Chr3:154878159 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.-10-115G>A	single nucleotide variant	not provided [RCV001690731]	Chr3:155084043 [GRCh38] Chr3:154801832 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.1780+309T>C	single nucleotide variant	not provided [RCV001610865]	Chr3:155167330 [GRCh38] Chr3:154885119 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.1574A>C (p.Lys525Thr)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV001248810]	Chr3:155148626 [GRCh38] Chr3:154866415 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.594dup (p.Val199fs)	duplication	Spinocerebellar ataxia 43 [RCV001196760]\|not provided [RCV001876277]	Chr3:155116920..155116921 [GRCh38] Chr3:154834709..154834710 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.307C>T (p.Arg103Cys)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV001262743]\|MME-related disorder [RCV004751943]\|not provided [RCV001701310]	Chr3:155115104 [GRCh38] Chr3:154832893 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2153+110_2153+111insT	insertion	not provided [RCV001813848]	Chr3:155172722..155172723 [GRCh38] Chr3:154890511..154890512 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.1745T>C (p.Ile582Thr)	single nucleotide variant	not provided [RCV001311629]	Chr3:155166986 [GRCh38] Chr3:154884775 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.439+32TA[13]	microsatellite	not provided [RCV001537276]	Chr3:155116590..155116591 [GRCh38] Chr3:154834379..154834380 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.2178del (p.Ala727fs)	deletion	not provided [RCV001268578]	Chr3:155180384 [GRCh38] Chr3:154898173 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.1827_1829dup (p.Gln610dup)	duplication	not provided [RCV001963913]	Chr3:155168535..155168536 [GRCh38] Chr3:154886324..154886325 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.160+1del	deletion	Charcot-Marie-Tooth disease, axonal, type 2T [RCV001335542]	Chr3:155084327 [GRCh38] Chr3:154802116 [GRCh37] Chr3:3q25.2	pathogenic
GRCh37/hg19 3q25.2(chr3:154855891-154860119)x1	copy number loss	not provided [RCV001310824]	Chr3:154855891..154860119 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.1753G>A (p.Glu585Lys)	single nucleotide variant	not provided [RCV001311630]	Chr3:155166994 [GRCh38] Chr3:154884783 [GRCh37] Chr3:3q25.2	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	copy number gain	Global developmental delay [RCV001352648]	Chr3:138173683..162494699 [GRCh37] Chr3:3q22.3-26.1	pathogenic
NM_007289.4(MME):c.1810G>A (p.Val604Ile)	single nucleotide variant	not provided [RCV001413592]	Chr3:155168521 [GRCh38] Chr3:154886310 [GRCh37] Chr3:3q25.2	likely benign\|conflicting interpretations of pathogenicity
NM_007289.4(MME):c.1048_1049del (p.Glu350fs)	deletion	not provided [RCV001387512]	Chr3:155142080..155142081 [GRCh38] Chr3:154859869..154859870 [GRCh37] Chr3:3q25.2	pathogenic
GRCh37/hg19 3q25.2-25.31(chr3:154548410-155021779)x1	copy number loss	not provided [RCV001535438]	Chr3:154548410..155021779 [GRCh37] Chr3:3q25.2-25.31	not provided
NM_007289.4(MME):c.881A>G (p.Asn294Ser)	single nucleotide variant	Inborn genetic diseases [RCV002560322]\|not provided [RCV001447550]	Chr3:155140216 [GRCh38] Chr3:154858005 [GRCh37] Chr3:3q25.2	likely benign\|uncertain significance
NM_007289.4(MME):c.1189-280A>G	single nucleotide variant	not provided [RCV001583755]	Chr3:155143163 [GRCh38] Chr3:154860952 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.721-166_721-163del	deletion	not provided [RCV001609062]	Chr3:155137934..155137937 [GRCh38] Chr3:154855723..154855726 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.439+32TA[14]	microsatellite	not provided [RCV001698723]	Chr3:155116590..155116591 [GRCh38] Chr3:154834379..154834380 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.957+335C>T	single nucleotide variant	not provided [RCV001617906]	Chr3:155140627 [GRCh38] Chr3:154858416 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.2077-119G>A	single nucleotide variant	not provided [RCV001708434]	Chr3:155172417 [GRCh38] Chr3:154890206 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.957+200C>G	single nucleotide variant	not provided [RCV001590065]	Chr3:155140492 [GRCh38] Chr3:154858281 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.67C>T (p.Arg23Ter)	single nucleotide variant	not provided [RCV001380583]	Chr3:155084234 [GRCh38] Chr3:154802023 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.957+3A>G	single nucleotide variant	not provided [RCV001727273]	Chr3:155140295 [GRCh38] Chr3:154858084 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.958-4_958-3delinsG	indel	not provided [RCV001773386]	Chr3:155141987..155141988 [GRCh38] Chr3:154859776..154859777 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1864A>G (p.Met622Val)	single nucleotide variant	not provided [RCV001763230]	Chr3:155168575 [GRCh38] Chr3:154886364 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.445A>G (p.Ile149Val)	single nucleotide variant	Inborn genetic diseases [RCV002540268]\|not provided [RCV001767077]	Chr3:155116669 [GRCh38] Chr3:154834458 [GRCh37] Chr3:3q25.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_007289.4(MME):c.1445A>C (p.Tyr482Ser)	single nucleotide variant	not provided [RCV001767178]	Chr3:155147172 [GRCh38] Chr3:154864961 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.47C>A (p.Pro16Gln)	single nucleotide variant	Inborn genetic diseases [RCV004040105]\|not provided [RCV001773879]	Chr3:155084214 [GRCh38] Chr3:154802003 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1499T>C (p.Leu500Ser)	single nucleotide variant	not provided [RCV001765577]	Chr3:155148551 [GRCh38] Chr3:154866340 [GRCh37] Chr3:3q25.2	uncertain significance
GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	copy number gain	Brachycephaly [RCV001801182]	Chr3:142729607..157921084 [GRCh37] Chr3:3q23-25.32	pathogenic
NM_007289.4(MME):c.716_717del (p.Lys239fs)	deletion	Charcot-Marie-Tooth disease axonal type 2T [RCV001787309]	Chr3:155118806..155118807 [GRCh38] Chr3:154836595..154836596 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.1687C>G (p.Pro563Ala)	single nucleotide variant	not provided [RCV001752852]	Chr3:155166928 [GRCh38] Chr3:154884717 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2087G>A (p.Gly696Glu)	single nucleotide variant	not provided [RCV001754353]	Chr3:155172546 [GRCh38] Chr3:154890335 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.860C>T (p.Thr287Met)	single nucleotide variant	not provided [RCV001773969]	Chr3:155140195 [GRCh38] Chr3:154857984 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.695A>G (p.Tyr232Cys)	single nucleotide variant	not provided [RCV001800048]	Chr3:155118786 [GRCh38] Chr3:154836575 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1914+1G>A	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV003388038]\|not provided [RCV001764767]	Chr3:155168626 [GRCh38] Chr3:154886415 [GRCh37] Chr3:3q25.2	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_007289.4(MME):c.2233A>G (p.Lys745Glu)	single nucleotide variant	not provided [RCV001765299]	Chr3:155180439 [GRCh38] Chr3:154898228 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2228C>G (p.Pro743Arg)	single nucleotide variant	not provided [RCV001770734]	Chr3:155180434 [GRCh38] Chr3:154898223 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1313_1314del (p.His438fs)	deletion	Charcot-Marie-Tooth disease axonal type 2T [RCV002290769]\|not provided [RCV001816371]	Chr3:155143567..155143568 [GRCh38] Chr3:154861356..154861357 [GRCh37] Chr3:3q25.2	pathogenic\|likely pathogenic
NM_007289.4(MME):c.2222T>C (p.Met741Thr)	single nucleotide variant	not provided [RCV001758514]	Chr3:155180428 [GRCh38] Chr3:154898217 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1742T>A (p.Val581Asp)	single nucleotide variant	not provided [RCV001763324]	Chr3:155166983 [GRCh38] Chr3:154884772 [GRCh37] Chr3:3q25.2	uncertain significance
GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	copy number loss	not provided [RCV001795847]	Chr3:143439359..165252122 [GRCh37] Chr3:3q24-26.1	pathogenic
NM_007289.4(MME):c.920A>G (p.Gln307Arg)	single nucleotide variant	not provided [RCV001758251]	Chr3:155140255 [GRCh38] Chr3:154858044 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1705C>A (p.Gln569Lys)	single nucleotide variant	not provided [RCV001760603]	Chr3:155166946 [GRCh38] Chr3:154884735 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.499T>A (p.Trp167Arg)	single nucleotide variant	Peripheral neuropathy [RCV001814524]	Chr3:155116723 [GRCh38] Chr3:154834512 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.358G>A (p.Asp120Asn)	single nucleotide variant	See cases [RCV003334400]\|not provided [RCV001815927]	Chr3:155115155 [GRCh38] Chr3:154832944 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.280C>T (p.Arg94Cys)	single nucleotide variant	not provided [RCV001816370]	Chr3:155115077 [GRCh38] Chr3:154832866 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.854A>G (p.Asn285Ser)	single nucleotide variant	not provided [RCV002025700]	Chr3:155138235 [GRCh38] Chr3:154856024 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1441G>A (p.Gly481Ser)	single nucleotide variant	not provided [RCV002023952]	Chr3:155147168 [GRCh38] Chr3:154864957 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1282G>T (p.Val428Leu)	single nucleotide variant	not provided [RCV002045780]	Chr3:155143536 [GRCh38] Chr3:154861325 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1095-2A>C	single nucleotide variant	Spinocerebellar ataxia 43 [RCV001849202]	Chr3:155142235 [GRCh38] Chr3:154860024 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.131C>A (p.Thr44Lys)	single nucleotide variant	not provided [RCV002025227]	Chr3:155084298 [GRCh38] Chr3:154802087 [GRCh37] Chr3:3q25.2	uncertain significance
NC_000003.11:g.(?_154801957)_(155551394_?)dup	duplication	not provided [RCV001896818]	Chr3:154801957..155551394 [GRCh37] Chr3:3q25.2-25.31	uncertain significance
NM_007289.4(MME):c.917C>T (p.Ala306Val)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV001823554]	Chr3:155140252 [GRCh38] Chr3:154858041 [GRCh37] Chr3:3q25.2	uncertain significance
NC_000003.11:g.(?_154801957)_(154802903_?)del	deletion	not provided [RCV001949578]	Chr3:154801957..154802903 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.2207G>T (p.Arg736Leu)	single nucleotide variant	not provided [RCV002044929]	Chr3:155180413 [GRCh38] Chr3:154898202 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.226A>G (p.Thr76Ala)	single nucleotide variant	not provided [RCV001929969]	Chr3:155115023 [GRCh38] Chr3:154832812 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.713A>C (p.Tyr238Ser)	single nucleotide variant	not provided [RCV002045699]	Chr3:155118804 [GRCh38] Chr3:154836593 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.25G>C (p.Asp9His)	single nucleotide variant	MME-related disorder [RCV004752091]\|not provided [RCV001893117]	Chr3:155084192 [GRCh38] Chr3:154801981 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1385A>C (p.Asp462Ala)	single nucleotide variant	not provided [RCV002024841]	Chr3:155144426 [GRCh38] Chr3:154862215 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.38T>C (p.Ile13Thr)	single nucleotide variant	not provided [RCV002024018]	Chr3:155084205 [GRCh38] Chr3:154801994 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1867G>A (p.Val623Met)	single nucleotide variant	not provided [RCV002045361]	Chr3:155168578 [GRCh38] Chr3:154886367 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1123T>C (p.Phe375Leu)	single nucleotide variant	Inborn genetic diseases [RCV002548848]\|not provided [RCV002040825]	Chr3:155142265 [GRCh38] Chr3:154860054 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1589T>G (p.Val530Gly)	single nucleotide variant	not provided [RCV001889394]	Chr3:155148641 [GRCh38] Chr3:154866430 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1883A>G (p.Asn628Ser)	single nucleotide variant	not provided [RCV001914744]	Chr3:155168594 [GRCh38] Chr3:154886383 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2161G>A (p.Gly721Arg)	single nucleotide variant	not provided [RCV001874096]	Chr3:155180367 [GRCh38] Chr3:154898156 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.264C>A (p.Cys88Ter)	single nucleotide variant	not provided [RCV001890480]	Chr3:155115061 [GRCh38] Chr3:154832850 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.56A>G (p.Lys19Arg)	single nucleotide variant	not provided [RCV001971635]	Chr3:155084223 [GRCh38] Chr3:154802012 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.66G>C (p.Gln22His)	single nucleotide variant	not provided [RCV001863668]	Chr3:155084233 [GRCh38] Chr3:154802022 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.281G>A (p.Arg94His)	single nucleotide variant	not provided [RCV001968209]	Chr3:155115078 [GRCh38] Chr3:154832867 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2238del (p.Lys746fs)	deletion	not provided [RCV002003737]	Chr3:155180444 [GRCh38] Chr3:154898233 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.224C>G (p.Ala75Gly)	single nucleotide variant	not provided [RCV001985784]	Chr3:155115021 [GRCh38] Chr3:154832810 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1154G>A (p.Arg385Gln)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV001823555]\|not provided [RCV002542731]	Chr3:155142296 [GRCh38] Chr3:154860085 [GRCh37] Chr3:3q25.2	uncertain significance
GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	copy number gain	not specified [RCV002053375]	Chr3:145486960..160504834 [GRCh37] Chr3:3q24-25.33	pathogenic
NM_007289.4(MME):c.390A>G (p.Ile130Met)	single nucleotide variant	not provided [RCV001926585]	Chr3:155116510 [GRCh38] Chr3:154834299 [GRCh37] Chr3:3q25.2	uncertain significance
GRCh37/hg19 3q25.1-25.2(chr3:151147204-154845718)	copy number loss	not specified [RCV002053377]	Chr3:151147204..154845718 [GRCh37] Chr3:3q25.1-25.2	uncertain significance
NM_007289.4(MME):c.347T>G (p.Val116Gly)	single nucleotide variant	not provided [RCV002002003]	Chr3:155115144 [GRCh38] Chr3:154832933 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.139G>A (p.Ala47Thr)	single nucleotide variant	not provided [RCV002040674]	Chr3:155084306 [GRCh38] Chr3:154802095 [GRCh37] Chr3:3q25.2	uncertain significance
NC_000003.11:g.(?_154832763)_(154836620_?)del	deletion	not provided [RCV001946841]	Chr3:154832763..154836620 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.602T>C (p.Ile201Thr)	single nucleotide variant	Inborn genetic diseases [RCV004040397]\|not provided [RCV001947307]	Chr3:155116934 [GRCh38] Chr3:154834723 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1700C>A (p.Ala567Asp)	single nucleotide variant	not provided [RCV002040931]	Chr3:155166941 [GRCh38] Chr3:154884730 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1439_1442del (p.Ile480fs)	deletion	not provided [RCV001912223]	Chr3:155147166..155147169 [GRCh38] Chr3:154864955..154864958 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.1184G>A (p.Arg395His)	single nucleotide variant	not provided [RCV001847377]	Chr3:155142326 [GRCh38] Chr3:154860115 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.612_615del (p.Phe204fs)	microsatellite	not provided [RCV001871513]	Chr3:155116938..155116941 [GRCh38] Chr3:154834727..154834730 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.157G>A (p.Asp53Asn)	single nucleotide variant	Inborn genetic diseases [RCV004641886]\|not provided [RCV002022948]	Chr3:155084324 [GRCh38] Chr3:154802113 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.779A>G (p.Glu260Gly)	single nucleotide variant	not provided [RCV001913928]	Chr3:155138160 [GRCh38] Chr3:154855949 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1780+3A>G	single nucleotide variant	not provided [RCV002022260]	Chr3:155167024 [GRCh38] Chr3:154884813 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1502_1503insTG (p.Tyr502fs)	insertion	not provided [RCV001926418]	Chr3:155148554..155148555 [GRCh38] Chr3:154866343..154866344 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.1958G>A (p.Gly653Glu)	single nucleotide variant	not provided [RCV002024078]	Chr3:155168775 [GRCh38] Chr3:154886564 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1498-3C>G	single nucleotide variant	not provided [RCV001863414]	Chr3:155148547 [GRCh38] Chr3:154866336 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.958-2A>G	single nucleotide variant	not provided [RCV002005809]	Chr3:155141989 [GRCh38] Chr3:154859778 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.1730G>T (p.Gly577Val)	single nucleotide variant	not provided [RCV002023136]	Chr3:155166971 [GRCh38] Chr3:154884760 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1862G>A (p.Cys621Tyr)	single nucleotide variant	not provided [RCV002021372]	Chr3:155168573 [GRCh38] Chr3:154886362 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.834A>T (p.Glu278Asp)	single nucleotide variant	not provided [RCV001912771]	Chr3:155138215 [GRCh38] Chr3:154856004 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.155A>G (p.Tyr52Cys)	single nucleotide variant	not provided [RCV001872116]	Chr3:155084322 [GRCh38] Chr3:154802111 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.25G>A (p.Asp9Asn)	single nucleotide variant	not provided [RCV001964272]	Chr3:155084192 [GRCh38] Chr3:154801981 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1495G>A (p.Glu499Lys)	single nucleotide variant	not provided [RCV001891919]	Chr3:155147222 [GRCh38] Chr3:154865011 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.97G>A (p.Val33Ile)	single nucleotide variant	not provided [RCV001908796]	Chr3:155084264 [GRCh38] Chr3:154802053 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1238del (p.Asn413fs)	deletion	not provided [RCV001970039]	Chr3:155143490 [GRCh38] Chr3:154861279 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.958-3C>G	single nucleotide variant	not provided [RCV002023955]	Chr3:155141988 [GRCh38] Chr3:154859777 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.359-40G>C	single nucleotide variant	not provided [RCV001837147]	Chr3:155116439 [GRCh38] Chr3:154834228 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.450T>G (p.Asp150Glu)	single nucleotide variant	not provided [RCV001892490]	Chr3:155116674 [GRCh38] Chr3:154834463 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1417-18A>G	single nucleotide variant	not provided [RCV001945756]	Chr3:155147126 [GRCh38] Chr3:154864915 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.346G>A (p.Val116Ile)	single nucleotide variant	not provided [RCV002005664]	Chr3:155115143 [GRCh38] Chr3:154832932 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1094+4G>A	single nucleotide variant	not provided [RCV001907863]	Chr3:155142131 [GRCh38] Chr3:154859920 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.887C>A (p.Pro296Gln)	single nucleotide variant	Inborn genetic diseases [RCV004641846]\|not provided [RCV002002639]	Chr3:155140222 [GRCh38] Chr3:154858011 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1997T>C (p.Ile666Thr)	single nucleotide variant	not provided [RCV002023528]	Chr3:155172133 [GRCh38] Chr3:154889922 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1497+4A>G	single nucleotide variant	not provided [RCV001945419]	Chr3:155147228 [GRCh38] Chr3:154865017 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.849T>G (p.Ile283Met)	single nucleotide variant	not provided [RCV001912098]	Chr3:155138230 [GRCh38] Chr3:154856019 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.934T>A (p.Phe312Ile)	single nucleotide variant	not provided [RCV002039794]	Chr3:155140269 [GRCh38] Chr3:154858058 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1300G>A (p.Gly434Arg)	single nucleotide variant	not provided [RCV002000763]	Chr3:155143554 [GRCh38] Chr3:154861343 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1511A>T (p.Glu504Val)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV002560468]\|Inborn genetic diseases [RCV002560467]\|not provided [RCV001957229]	Chr3:155148563 [GRCh38] Chr3:154866352 [GRCh37] Chr3:3q25.2	uncertain significance\|not provided
NM_007289.4(MME):c.1609A>C (p.Ser537Arg)	single nucleotide variant	not provided [RCV001883718]	Chr3:155160397 [GRCh38] Chr3:154878186 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1332T>C (p.Ile444=)	single nucleotide variant	not provided [RCV001888523]	Chr3:155144373 [GRCh38] Chr3:154862162 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.770G>A (p.Arg257His)	single nucleotide variant	Inborn genetic diseases [RCV002548183]\|not provided [RCV002014411]	Chr3:155138151 [GRCh38] Chr3:154855940 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1282G>A (p.Val428Met)	single nucleotide variant	not provided [RCV002038128]	Chr3:155143536 [GRCh38] Chr3:154861325 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.601A>T (p.Ile201Phe)	single nucleotide variant	not provided [RCV001935231]	Chr3:155116933 [GRCh38] Chr3:154834722 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2237A>G (p.Lys746Arg)	single nucleotide variant	not provided [RCV002050931]	Chr3:155180443 [GRCh38] Chr3:154898232 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2010C>T (p.Gly670=)	single nucleotide variant	not provided [RCV002048301]	Chr3:155172146 [GRCh38] Chr3:154889935 [GRCh37] Chr3:3q25.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_007289.4(MME):c.1121G>A (p.Arg374Lys)	single nucleotide variant	not provided [RCV001962553]	Chr3:155142263 [GRCh38] Chr3:154860052 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.604_607del (p.Asn202fs)	deletion	not provided [RCV001962991]	Chr3:155116933..155116936 [GRCh38] Chr3:154834722..154834725 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.1815del (p.Trp606fs)	deletion	not provided [RCV001963035]	Chr3:155168526 [GRCh38] Chr3:154886315 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.1819T>C (p.Trp607Arg)	single nucleotide variant	not provided [RCV002033239]	Chr3:155168530 [GRCh38] Chr3:154886319 [GRCh37] Chr3:3q25.2	uncertain significance
NC_000003.11:g.(?_154832763)_(154832964_?)del	deletion	not provided [RCV001982245]	Chr3:154832763..154832964 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2195C>G (p.Ala732Gly)	single nucleotide variant	not provided [RCV002035615]	Chr3:155180401 [GRCh38] Chr3:154898190 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.900_901dup (p.Asn301fs)	microsatellite	not provided [RCV001999821]	Chr3:155140232..155140233 [GRCh38] Chr3:154858021..154858022 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.2076+3A>G	single nucleotide variant	not provided [RCV001963531]	Chr3:155172215 [GRCh38] Chr3:154890004 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1095-19G>A	single nucleotide variant	not provided [RCV002015238]	Chr3:155142218 [GRCh38] Chr3:154860007 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1199G>C (p.Gly400Ala)	single nucleotide variant	not provided [RCV001885606]	Chr3:155143453 [GRCh38] Chr3:154861242 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1914C>T (p.His638=)	single nucleotide variant	not provided [RCV002011248]	Chr3:155168625 [GRCh38] Chr3:154886414 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1183C>T (p.Arg395Cys)	single nucleotide variant	not provided [RCV001943685]	Chr3:155142325 [GRCh38] Chr3:154860114 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.134T>C (p.Met45Thr)	single nucleotide variant	not provided [RCV002012935]	Chr3:155084301 [GRCh38] Chr3:154802090 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.269G>T (p.Gly90Val)	single nucleotide variant	Inborn genetic diseases [RCV003264343]\|not provided [RCV001993556]	Chr3:155115066 [GRCh38] Chr3:154832855 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1598A>G (p.Asp533Gly)	single nucleotide variant	not provided [RCV002029568]	Chr3:155148650 [GRCh38] Chr3:154866439 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1153C>T (p.Arg385Ter)	single nucleotide variant	not provided [RCV001878688]	Chr3:155142295 [GRCh38] Chr3:154860084 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.792del (p.Ile264fs)	deletion	not provided [RCV002049549]	Chr3:155138173 [GRCh38] Chr3:154855962 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.1318-3G>A	single nucleotide variant	not provided [RCV001867303]	Chr3:155144356 [GRCh38] Chr3:154862145 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.245A>T (p.Asp82Val)	single nucleotide variant	not provided [RCV001920733]	Chr3:155115042 [GRCh38] Chr3:154832831 [GRCh37] Chr3:3q25.2	uncertain significance
NC_000003.11:g.(?_154886501)_(154886606_?)dup	duplication	not provided [RCV001920747]	Chr3:154886501..154886606 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2153+4C>T	single nucleotide variant	not provided [RCV001975340]	Chr3:155172616 [GRCh38] Chr3:154890405 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.668G>T (p.Arg223Leu)	single nucleotide variant	Inborn genetic diseases [RCV002560686]\|not provided [RCV001931552]	Chr3:155118759 [GRCh38] Chr3:154836548 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.514G>C (p.Glu172Gln)	single nucleotide variant	not provided [RCV002015145]	Chr3:155116738 [GRCh38] Chr3:154834527 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.711C>G (p.Ile237Met)	single nucleotide variant	not provided [RCV001932735]	Chr3:155118802 [GRCh38] Chr3:154836591 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.336T>A (p.Asp112Glu)	single nucleotide variant	not provided [RCV001920951]	Chr3:155115133 [GRCh38] Chr3:154832922 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.112C>G (p.Leu38Val)	single nucleotide variant	not provided [RCV001875354]	Chr3:155084279 [GRCh38] Chr3:154802068 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1189-3T>A	single nucleotide variant	not provided [RCV002028953]	Chr3:155143440 [GRCh38] Chr3:154861229 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.793G>A (p.Asp265Asn)	single nucleotide variant	not provided [RCV001920184]	Chr3:155138174 [GRCh38] Chr3:154855963 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.929del (p.Asn310fs)	deletion	not provided [RCV001921563]	Chr3:155140261 [GRCh38] Chr3:154858050 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.856-4A>G	single nucleotide variant	not provided [RCV002031865]	Chr3:155140187 [GRCh38] Chr3:154857976 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2108C>T (p.Ala703Val)	single nucleotide variant	Inborn genetic diseases [RCV002555705]\|not provided [RCV001918665]	Chr3:155172567 [GRCh38] Chr3:154890356 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1520A>G (p.Tyr507Cys)	single nucleotide variant	Inborn genetic diseases [RCV003170394]\|MME-related autosomal dominant Charcot Marie Tooth disease type 2 [RCV003994372]\|not provided [RCV002030564]	Chr3:155148572 [GRCh38] Chr3:154866361 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1866G>A (p.Met622Ile)	single nucleotide variant	not provided [RCV002030711]	Chr3:155168577 [GRCh38] Chr3:154886366 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1497+5G>A	single nucleotide variant	not provided [RCV001957713]	Chr3:155147229 [GRCh38] Chr3:154865018 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2084G>A (p.Cys695Tyr)	single nucleotide variant	not provided [RCV001959754]	Chr3:155172543 [GRCh38] Chr3:154890332 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.72G>T (p.Trp24Cys)	single nucleotide variant	not provided [RCV001996532]	Chr3:155084239 [GRCh38] Chr3:154802028 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2141C>T (p.Pro714Leu)	single nucleotide variant	Inborn genetic diseases [RCV004044892]\|not provided [RCV002036774]	Chr3:155172600 [GRCh38] Chr3:154890389 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2154-5_2160del	deletion	Inborn genetic diseases [RCV003164231]\|not provided [RCV001900733]	Chr3:155180353..155180364 [GRCh38] Chr3:154898142..154898153 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1228C>T (p.Arg410Cys)	single nucleotide variant	not provided [RCV001994898]	Chr3:155143482 [GRCh38] Chr3:154861271 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.911C>T (p.Thr304Ile)	single nucleotide variant	not provided [RCV001866365]	Chr3:155140246 [GRCh38] Chr3:154858035 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1930A>G (p.Thr644Ala)	single nucleotide variant	Inborn genetic diseases [RCV004641790]\|not provided [RCV001938639]\|not specified [RCV004587255]	Chr3:155168747 [GRCh38] Chr3:154886536 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2155A>T (p.Ile719Phe)	single nucleotide variant	not provided [RCV001906007]	Chr3:155180361 [GRCh38] Chr3:154898150 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1834G>A (p.Ala612Thr)	single nucleotide variant	not provided [RCV002009670]	Chr3:155168545 [GRCh38] Chr3:154886334 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1016C>T (p.Thr339Ile)	single nucleotide variant	not provided [RCV001921953]	Chr3:155142049 [GRCh38] Chr3:154859838 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1343G>A (p.Arg448Gln)	single nucleotide variant	Inborn genetic diseases [RCV002551195]\|not provided [RCV002033977]	Chr3:155144384 [GRCh38] Chr3:154862173 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1390G>A (p.Glu464Lys)	single nucleotide variant	not provided [RCV002034030]	Chr3:155144431 [GRCh38] Chr3:154862220 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.446T>C (p.Ile149Thr)	single nucleotide variant	not provided [RCV001886071]	Chr3:155116670 [GRCh38] Chr3:154834459 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1672G>A (p.Gly558Ser)	single nucleotide variant	not provided [RCV001977346]	Chr3:155166913 [GRCh38] Chr3:154884702 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1348G>T (p.Val450Phe)	single nucleotide variant	not provided [RCV002027945]	Chr3:155144389 [GRCh38] Chr3:154862178 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1305G>C (p.Glu435Asp)	single nucleotide variant	not provided [RCV001990792]	Chr3:155143559 [GRCh38] Chr3:154861348 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.146A>G (p.Tyr49Cys)	single nucleotide variant	not provided [RCV001878586]	Chr3:155084313 [GRCh38] Chr3:154802102 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1948G>A (p.Ala650Thr)	single nucleotide variant	not provided [RCV002026830]	Chr3:155168765 [GRCh38] Chr3:154886554 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1010G>A (p.Ser337Asn)	single nucleotide variant	not provided [RCV001997318]	Chr3:155142043 [GRCh38] Chr3:154859832 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.318C>A (p.Asn106Lys)	single nucleotide variant	not provided [RCV001980883]	Chr3:155115115 [GRCh38] Chr3:154832904 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.124G>A (p.Ala42Thr)	single nucleotide variant	not provided [RCV001961407]	Chr3:155084291 [GRCh38] Chr3:154802080 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2075A>G (p.Gln692Arg)	single nucleotide variant	not provided [RCV002035702]	Chr3:155172211 [GRCh38] Chr3:154890000 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1188G>A (p.Lys396=)	single nucleotide variant	not provided [RCV001973940]	Chr3:155142330 [GRCh38] Chr3:154860119 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2140C>T (p.Pro714Ser)	single nucleotide variant	not provided [RCV001879174]	Chr3:155172599 [GRCh38] Chr3:154890388 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1137T>G (p.Leu379=)	single nucleotide variant	not provided [RCV001973819]	Chr3:155142279 [GRCh38] Chr3:154860068 [GRCh37] Chr3:3q25.2	likely benign\|uncertain significance
NM_007289.4(MME):c.779A>C (p.Glu260Ala)	single nucleotide variant	not provided [RCV001878379]	Chr3:155138160 [GRCh38] Chr3:154855949 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1689dup (p.Phe564fs)	duplication	not provided [RCV001994862]	Chr3:155166924..155166925 [GRCh38] Chr3:154884713..154884714 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.476A>G (p.Lys159Arg)	single nucleotide variant	not provided [RCV001898244]	Chr3:155116700 [GRCh38] Chr3:154834489 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.389T>C (p.Ile130Thr)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV003339850]\|Inborn genetic diseases [RCV003289286]\|not provided [RCV001955654]	Chr3:155116509 [GRCh38] Chr3:154834298 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2143G>A (p.Gly715Ser)	single nucleotide variant	not provided [RCV001976753]	Chr3:155172602 [GRCh38] Chr3:154890391 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1914+6T>A	single nucleotide variant	not provided [RCV001898555]	Chr3:155168631 [GRCh38] Chr3:154886420 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.298del (p.Thr100fs)	deletion	not provided [RCV001993132]	Chr3:155115095 [GRCh38] Chr3:154832884 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.440-8T>A	single nucleotide variant	not provided [RCV002013006]	Chr3:155116656 [GRCh38] Chr3:154834445 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.857C>T (p.Ala286Val)	single nucleotide variant	not provided [RCV001995233]	Chr3:155140192 [GRCh38] Chr3:154857981 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1080C>T (p.Thr360=)	single nucleotide variant	not provided [RCV002192081]	Chr3:155142113 [GRCh38] Chr3:154859902 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.42C>T (p.Asn14=)	single nucleotide variant	not provided [RCV002126874]	Chr3:155084209 [GRCh38] Chr3:154801998 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1318-110G>A	single nucleotide variant	not provided [RCV002210975]	Chr3:155144249 [GRCh38] Chr3:154862038 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1094+5G>T	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002225185]	Chr3:155142132 [GRCh38] Chr3:154859921 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.958-3del	deletion	not provided [RCV002169867]	Chr3:155141987 [GRCh38] Chr3:154859776 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1914+18T>C	single nucleotide variant	not provided [RCV002190483]	Chr3:155168643 [GRCh38] Chr3:154886432 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.924C>A (p.Ile308=)	single nucleotide variant	not provided [RCV002109117]	Chr3:155140259 [GRCh38] Chr3:154858048 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.655-11A>G	single nucleotide variant	not provided [RCV002071228]	Chr3:155118735 [GRCh38] Chr3:154836524 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1981-10A>C	single nucleotide variant	not provided [RCV002206376]	Chr3:155172107 [GRCh38] Chr3:154889896 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2052A>G (p.Gln684=)	single nucleotide variant	not provided [RCV002111085]	Chr3:155172188 [GRCh38] Chr3:154889977 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1152C>T (p.Ser384=)	single nucleotide variant	not provided [RCV002169445]	Chr3:155142294 [GRCh38] Chr3:154860083 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1661-16T>C	single nucleotide variant	not provided [RCV002148451]	Chr3:155166886 [GRCh38] Chr3:154884675 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1647A>G (p.Gly549=)	single nucleotide variant	not provided [RCV002167556]	Chr3:155160435 [GRCh38] Chr3:154878224 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.264C>T (p.Cys88=)	single nucleotide variant	not provided [RCV002074736]	Chr3:155115061 [GRCh38] Chr3:154832850 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.536-18T>C	single nucleotide variant	not provided [RCV002192323]	Chr3:155116850 [GRCh38] Chr3:154834639 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.411A>G (p.Lys137=)	single nucleotide variant	not provided [RCV002165333]	Chr3:155116531 [GRCh38] Chr3:154834320 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.720+16del	deletion	not provided [RCV002208470]	Chr3:155118820 [GRCh38] Chr3:154836609 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.2196C>T (p.Ala732=)	single nucleotide variant	not provided [RCV002212760]	Chr3:155180402 [GRCh38] Chr3:154898191 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1869G>C (p.Val623=)	single nucleotide variant	not provided [RCV002196737]	Chr3:155168580 [GRCh38] Chr3:154886369 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.576T>C (p.Asn192=)	single nucleotide variant	not provided [RCV002173823]	Chr3:155116908 [GRCh38] Chr3:154834697 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1320C>T (p.Val440=)	single nucleotide variant	not provided [RCV002096317]	Chr3:155144361 [GRCh38] Chr3:154862150 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1095-20C>T	single nucleotide variant	not provided [RCV002153386]	Chr3:155142217 [GRCh38] Chr3:154860006 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.196+10G>T	single nucleotide variant	not provided [RCV002084928]	Chr3:155085104 [GRCh38] Chr3:154802893 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1443C>A (p.Gly481=)	single nucleotide variant	not provided [RCV002087076]	Chr3:155147170 [GRCh38] Chr3:154864959 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1189-5C>T	single nucleotide variant	not provided [RCV002111531]	Chr3:155143438 [GRCh38] Chr3:154861227 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.954G>A (p.Gly318=)	single nucleotide variant	not provided [RCV002193300]	Chr3:155140289 [GRCh38] Chr3:154858078 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.1189-14_1189-7dup	duplication	not provided [RCV002194216]	Chr3:155143426..155143427 [GRCh38] Chr3:154861215..154861216 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1778A>G (p.Asn593Ser)	single nucleotide variant	MME-related disorder [RCV003971069]\|not provided [RCV002135271]	Chr3:155167019 [GRCh38] Chr3:154884808 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.162T>C (p.Asp54=)	single nucleotide variant	not provided [RCV002171176]	Chr3:155085060 [GRCh38] Chr3:154802849 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1626C>G (p.Val542=)	single nucleotide variant	not provided [RCV002213094]	Chr3:155160414 [GRCh38] Chr3:154878203 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.720+19A>G	single nucleotide variant	not provided [RCV002133710]	Chr3:155118830 [GRCh38] Chr3:154836619 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1497+20A>G	single nucleotide variant	not provided [RCV002114614]	Chr3:155147244 [GRCh38] Chr3:154865033 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.753T>C (p.Ser251=)	single nucleotide variant	not provided [RCV002146425]	Chr3:155138134 [GRCh38] Chr3:154855923 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2030G>A (p.Gly677Glu)	single nucleotide variant	not provided [RCV002223697]	Chr3:155172166 [GRCh38] Chr3:154889955 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1161C>T (p.Tyr387=)	single nucleotide variant	not provided [RCV002075046]	Chr3:155142303 [GRCh38] Chr3:154860092 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.957+12G>T	single nucleotide variant	not provided [RCV002196582]	Chr3:155140304 [GRCh38] Chr3:154858093 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1317+8T>G	single nucleotide variant	not provided [RCV002093851]	Chr3:155143579 [GRCh38] Chr3:154861368 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.240T>C (p.Cys80=)	single nucleotide variant	not provided [RCV002199482]	Chr3:155115037 [GRCh38] Chr3:154832826 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.161-13C>T	single nucleotide variant	not provided [RCV002203196]	Chr3:155085046 [GRCh38] Chr3:154802835 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.196+19G>A	single nucleotide variant	not provided [RCV002157330]	Chr3:155085113 [GRCh38] Chr3:154802902 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1389C>T (p.Ala463=)	single nucleotide variant	not provided [RCV002117550]	Chr3:155144430 [GRCh38] Chr3:154862219 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1590G>A (p.Val530=)	single nucleotide variant	not provided [RCV002124115]	Chr3:155148642 [GRCh38] Chr3:154866431 [GRCh37] Chr3:3q25.2	likely benign\|conflicting interpretations of pathogenicity
NM_007289.4(MME):c.2153+9A>C	single nucleotide variant	not provided [RCV002084142]	Chr3:155172621 [GRCh38] Chr3:154890410 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.161-11C>A	single nucleotide variant	not provided [RCV002178427]	Chr3:155085048 [GRCh38] Chr3:154802837 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1809C>T (p.Leu603=)	single nucleotide variant	not provided [RCV002161371]	Chr3:155168520 [GRCh38] Chr3:154886309 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1188+12dup	duplication	not provided [RCV002218738]	Chr3:155142336..155142337 [GRCh38] Chr3:154860125..154860126 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1281T>C (p.Tyr427=)	single nucleotide variant	not provided [RCV002175612]	Chr3:155143535 [GRCh38] Chr3:154861324 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2153+10T>C	single nucleotide variant	not provided [RCV002102555]	Chr3:155172622 [GRCh38] Chr3:154890411 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2153+11A>G	single nucleotide variant	not provided [RCV002183813]	Chr3:155172623 [GRCh38] Chr3:154890412 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1661-17A>G	single nucleotide variant	not provided [RCV002219543]	Chr3:155166885 [GRCh38] Chr3:154884674 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.1479G>T (p.Leu493=)	single nucleotide variant	not provided [RCV002082548]	Chr3:155147206 [GRCh38] Chr3:154864995 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.655-16T>C	single nucleotide variant	not provided [RCV002164405]	Chr3:155118730 [GRCh38] Chr3:154836519 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.861G>A (p.Thr287=)	single nucleotide variant	not provided [RCV002164499]	Chr3:155140196 [GRCh38] Chr3:154857985 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2076+14C>G	single nucleotide variant	not provided [RCV002180293]	Chr3:155172226 [GRCh38] Chr3:154890015 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1980+12del	deletion	not provided [RCV002122698]	Chr3:155168804 [GRCh38] Chr3:154886593 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.1728G>A (p.Gly576=)	single nucleotide variant	not provided [RCV002220416]	Chr3:155166969 [GRCh38] Chr3:154884758 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1314T>C (p.His438=)	single nucleotide variant	not provided [RCV002156383]	Chr3:155143568 [GRCh38] Chr3:154861357 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.655-12T>C	single nucleotide variant	not provided [RCV002175957]	Chr3:155118734 [GRCh38] Chr3:154836523 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.721-18G>A	single nucleotide variant	not provided [RCV002201083]	Chr3:155138084 [GRCh38] Chr3:154855873 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1095-17T>C	single nucleotide variant	not provided [RCV002099426]	Chr3:155142220 [GRCh38] Chr3:154860009 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.161-20A>G	single nucleotide variant	not provided [RCV002137318]	Chr3:155085039 [GRCh38] Chr3:154802828 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.855+19T>C	single nucleotide variant	not provided [RCV002135568]	Chr3:155138255 [GRCh38] Chr3:154856044 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2109G>T (p.Ala703=)	single nucleotide variant	not provided [RCV002201959]	Chr3:155172568 [GRCh38] Chr3:154890357 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1953T>C (p.Asp651=)	single nucleotide variant	not provided [RCV002154342]	Chr3:155168770 [GRCh38] Chr3:154886559 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.193T>C (p.Ser65Pro)	single nucleotide variant	MME-related autosomal dominant Charcot Marie Tooth disease type 2 [RCV002221410]\|not provided [RCV003089131]	Chr3:155085091 [GRCh38] Chr3:154802880 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.196+18C>T	single nucleotide variant	not provided [RCV002138439]	Chr3:155085112 [GRCh38] Chr3:154802901 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.96G>A (p.Ser32=)	single nucleotide variant	MME-related disorder [RCV003978553]\|not provided [RCV002202826]	Chr3:155084263 [GRCh38] Chr3:154802052 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.197-20T>C	single nucleotide variant	not provided [RCV002159180]	Chr3:155114974 [GRCh38] Chr3:154832763 [GRCh37] Chr3:3q25.2	likely benign
NC_000003.11:g.(?_154801957)_(154898248_?)del	deletion	not provided [RCV003109633]	Chr3:154801957..154898248 [GRCh37] Chr3:3q25.2	pathogenic
NC_000003.11:g.(?_154801957)_(154898248_?)dup	duplication	not provided [RCV003109634]	Chr3:154801957..154898248 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.156C>T (p.Tyr52=)	single nucleotide variant	not provided [RCV003110262]	Chr3:155084323 [GRCh38] Chr3:154802112 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.874G>A (p.Asp292Asn)	single nucleotide variant	not provided [RCV003112577]	Chr3:155140209 [GRCh38] Chr3:154857998 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1406C>T (p.Ala469Val)	single nucleotide variant	See cases [RCV002252429]	Chr3:155144447 [GRCh38] Chr3:154862236 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.265G>A (p.Gly89Arg)	single nucleotide variant	not provided [RCV002275855]	Chr3:155115062 [GRCh38] Chr3:154832851 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1415A>T (p.Lys472Met)	single nucleotide variant	not provided [RCV002275784]	Chr3:155144456 [GRCh38] Chr3:154862245 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1559G>C (p.Ser520Thr)	single nucleotide variant	MME-related disorder [RCV003418433]\|not provided [RCV002273673]	Chr3:155148611 [GRCh38] Chr3:154866400 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.536-1G>A	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV002290102]\|not provided [RCV003097784]	Chr3:155116867 [GRCh38] Chr3:154834656 [GRCh37] Chr3:3q25.2	pathogenic\|likely pathogenic
NM_007289.4(MME):c.313G>A (p.Gly105Ser)	single nucleotide variant	not provided [RCV002293097]	Chr3:155115110 [GRCh38] Chr3:154832899 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2050C>G (p.Gln684Glu)	single nucleotide variant	not provided [RCV003129505]	Chr3:155172186 [GRCh38] Chr3:154889975 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.988del (p.Ile330fs)	deletion	not provided [RCV003143989]	Chr3:155142019 [GRCh38] Chr3:154859808 [GRCh37] Chr3:3q25.2	likely pathogenic
GRCh37/hg19 3q25.2-25.31(chr3:154845141-155224069)x3	copy number gain	not provided [RCV002474778]	Chr3:154845141..155224069 [GRCh37] Chr3:3q25.2-25.31	uncertain significance
GRCh37/hg19 3q25.2(chr3:154580683-154815399)x1	copy number loss	not provided [RCV002473918]	Chr3:154580683..154815399 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.949A>G (p.Asn317Asp)	single nucleotide variant	not provided [RCV002467297]	Chr3:155140284 [GRCh38] Chr3:154858073 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.667C>T (p.Arg223Ter)	single nucleotide variant	not provided [RCV003143992]	Chr3:155118758 [GRCh38] Chr3:154836547 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.1015A>G (p.Thr339Ala)	single nucleotide variant	not provided [RCV002299008]	Chr3:155142048 [GRCh38] Chr3:154859837 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.838G>T (p.Glu280Ter)	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV002308494]	Chr3:155138219 [GRCh38] Chr3:154856008 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.1913A>G (p.His638Arg)	single nucleotide variant	not provided [RCV003032972]	Chr3:155168624 [GRCh38] Chr3:154886413 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1416+13C>G	single nucleotide variant	not provided [RCV002841949]	Chr3:155144470 [GRCh38] Chr3:154862259 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1095-6dup	duplication	not provided [RCV002726964]	Chr3:155142230..155142231 [GRCh38] Chr3:154860019..154860020 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.655-11del	deletion	not provided [RCV002616956]	Chr3:155118735 [GRCh38] Chr3:154836524 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.382G>A (p.Glu128Lys)	single nucleotide variant	not provided [RCV003014598]	Chr3:155116502 [GRCh38] Chr3:154834291 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.992T>C (p.Met331Thr)	single nucleotide variant	Inborn genetic diseases [RCV002902083]	Chr3:155142025 [GRCh38] Chr3:154859814 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.721-3C>T	single nucleotide variant	not provided [RCV002972237]	Chr3:155138099 [GRCh38] Chr3:154855888 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1108T>C (p.Leu370=)	single nucleotide variant	not provided [RCV002755663]	Chr3:155142250 [GRCh38] Chr3:154860039 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.439+1del	deletion	not provided [RCV002837991]	Chr3:155116560 [GRCh38] Chr3:154834349 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.274T>C (p.Leu92=)	single nucleotide variant	not provided [RCV002690190]	Chr3:155115071 [GRCh38] Chr3:154832860 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1168T>A (p.Ser390Thr)	single nucleotide variant	not provided [RCV002842612]	Chr3:155142310 [GRCh38] Chr3:154860099 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.720+1G>A	single nucleotide variant	not provided [RCV002617819]	Chr3:155118812 [GRCh38] Chr3:154836601 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.2243G>A (p.Arg748Gln)	single nucleotide variant	Inborn genetic diseases [RCV003170702]\|not provided [RCV002948778]	Chr3:155180449 [GRCh38] Chr3:154898238 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2104T>A (p.Tyr702Asn)	single nucleotide variant	Inborn genetic diseases [RCV002869277]	Chr3:155172563 [GRCh38] Chr3:154890352 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.463G>A (p.Glu155Lys)	single nucleotide variant	not provided [RCV002696116]	Chr3:155116687 [GRCh38] Chr3:154834476 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.818T>C (p.Met273Thr)	single nucleotide variant	not provided [RCV002736136]	Chr3:155138199 [GRCh38] Chr3:154855988 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2218T>C (p.Tyr740His)	single nucleotide variant	not provided [RCV002623122]	Chr3:155180424 [GRCh38] Chr3:154898213 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.358+20G>C	single nucleotide variant	not provided [RCV002572004]	Chr3:155115175 [GRCh38] Chr3:154832964 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2091C>T (p.Thr697=)	single nucleotide variant	not provided [RCV002570940]	Chr3:155172550 [GRCh38] Chr3:154890339 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1974A>G (p.Ala658=)	single nucleotide variant	not provided [RCV002885392]	Chr3:155168791 [GRCh38] Chr3:154886580 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1981-6G>A	single nucleotide variant	not provided [RCV002571825]	Chr3:155172111 [GRCh38] Chr3:154889900 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1980+10A>C	single nucleotide variant	not provided [RCV002886621]	Chr3:155168807 [GRCh38] Chr3:154886596 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1998T>C (p.Ile666=)	single nucleotide variant	not provided [RCV002847523]	Chr3:155172134 [GRCh38] Chr3:154889923 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1981-13A>G	single nucleotide variant	not provided [RCV002735344]	Chr3:155172104 [GRCh38] Chr3:154889893 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.411A>C (p.Lys137Asn)	single nucleotide variant	not provided [RCV002637698]	Chr3:155116531 [GRCh38] Chr3:154834320 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.572del (p.Leu191fs)	deletion	not provided [RCV003019426]	Chr3:155116904 [GRCh38] Chr3:154834693 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.1833T>C (p.Ser611=)	single nucleotide variant	not provided [RCV003053795]	Chr3:155168544 [GRCh38] Chr3:154886333 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.882T>C (p.Asn294=)	single nucleotide variant	not provided [RCV002621610]	Chr3:155140217 [GRCh38] Chr3:154858006 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1457T>C (p.Ile486Thr)	single nucleotide variant	not provided [RCV003020421]	Chr3:155147184 [GRCh38] Chr3:154864973 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.535+19del	deletion	not provided [RCV002796396]	Chr3:155116778 [GRCh38] Chr3:154834567 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1671C>T (p.Ala557=)	single nucleotide variant	not provided [RCV003002425]	Chr3:155166912 [GRCh38] Chr3:154884701 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2119A>G (p.Ile707Val)	single nucleotide variant	not provided [RCV002949108]	Chr3:155172578 [GRCh38] Chr3:154890367 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1961G>C (p.Gly654Ala)	single nucleotide variant	not provided [RCV002760584]	Chr3:155168778 [GRCh38] Chr3:154886567 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1635T>A (p.Phe545Leu)	single nucleotide variant	not provided [RCV003053769]	Chr3:155160423 [GRCh38] Chr3:154878212 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1221T>G (p.Thr407=)	single nucleotide variant	not provided [RCV002619921]	Chr3:155143475 [GRCh38] Chr3:154861264 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2076+17G>A	single nucleotide variant	not provided [RCV002622351]	Chr3:155172229 [GRCh38] Chr3:154890018 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1255A>G (p.Met419Val)	single nucleotide variant	not provided [RCV002659438]	Chr3:155143509 [GRCh38] Chr3:154861298 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2102A>G (p.Glu701Gly)	single nucleotide variant	Inborn genetic diseases [RCV002870489]	Chr3:155172561 [GRCh38] Chr3:154890350 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.160+14A>T	single nucleotide variant	not provided [RCV003018552]	Chr3:155084341 [GRCh38] Chr3:154802130 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2242C>T (p.Arg748Trp)	single nucleotide variant	not provided [RCV002510100]	Chr3:155180448 [GRCh38] Chr3:154898237 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.439+6T>G	single nucleotide variant	not provided [RCV002800778]	Chr3:155116565 [GRCh38] Chr3:154834354 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1318-1G>C	single nucleotide variant	not provided [RCV002741805]	Chr3:155144358 [GRCh38] Chr3:154862147 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.1773T>A (p.Asp591Glu)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV004584234]\|not provided [RCV002791404]	Chr3:155167014 [GRCh38] Chr3:154884803 [GRCh37] Chr3:3q25.2	likely pathogenic\|uncertain significance
NM_007289.4(MME):c.721-8dup	duplication	not provided [RCV002593972]	Chr3:155138087..155138088 [GRCh38] Chr3:154855876..154855877 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.1780+10A>G	single nucleotide variant	not provided [RCV002574925]	Chr3:155167031 [GRCh38] Chr3:154884820 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.855+19del	deletion	not provided [RCV002626500]	Chr3:155138247 [GRCh38] Chr3:154856036 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.196+15T>C	single nucleotide variant	not provided [RCV002594528]	Chr3:155085109 [GRCh38] Chr3:154802898 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1188+12A>T	single nucleotide variant	not provided [RCV002710197]	Chr3:155142342 [GRCh38] Chr3:154860131 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1907G>A (p.Gly636Glu)	single nucleotide variant	not provided [RCV002741890]	Chr3:155168618 [GRCh38] Chr3:154886407 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.535+18C>T	single nucleotide variant	not provided [RCV002573894]	Chr3:155116777 [GRCh38] Chr3:154834566 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2009G>A (p.Gly670Asp)	single nucleotide variant	not provided [RCV002928797]	Chr3:155172145 [GRCh38] Chr3:154889934 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1525G>A (p.Glu509Lys)	single nucleotide variant	not provided [RCV002594233]	Chr3:155148577 [GRCh38] Chr3:154866366 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.655-20T>C	single nucleotide variant	not provided [RCV002573672]	Chr3:155118726 [GRCh38] Chr3:154836515 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1095-7dup	duplication	not provided [RCV002642869]	Chr3:155142222..155142223 [GRCh38] Chr3:154860011..154860012 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.440-19T>C	single nucleotide variant	not provided [RCV002593663]	Chr3:155116645 [GRCh38] Chr3:154834434 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.66G>A (p.Gln22=)	single nucleotide variant	not provided [RCV003082541]	Chr3:155084233 [GRCh38] Chr3:154802022 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.498G>A (p.Gly166=)	single nucleotide variant	not provided [RCV002626347]	Chr3:155116722 [GRCh38] Chr3:154834511 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1771G>C (p.Asp591His)	single nucleotide variant	Inborn genetic diseases [RCV002854184]	Chr3:155167012 [GRCh38] Chr3:154884801 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1967G>A (p.Gly656Asp)	single nucleotide variant	not provided [RCV002801061]	Chr3:155168784 [GRCh38] Chr3:154886573 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2154-18T>C	single nucleotide variant	not provided [RCV002572502]	Chr3:155180342 [GRCh38] Chr3:154898131 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1519T>A (p.Tyr507Asn)	single nucleotide variant	not provided [RCV002594232]	Chr3:155148571 [GRCh38] Chr3:154866360 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1249G>A (p.Gly417Arg)	single nucleotide variant	Inborn genetic diseases [RCV002930596]	Chr3:155143503 [GRCh38] Chr3:154861292 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.418T>G (p.Tyr140Asp)	single nucleotide variant	not provided [RCV002957211]	Chr3:155116538 [GRCh38] Chr3:154834327 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.957+18del	deletion	not provided [RCV002625478]	Chr3:155140305 [GRCh38] Chr3:154858094 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.655-18T>C	single nucleotide variant	not provided [RCV002701242]	Chr3:155118728 [GRCh38] Chr3:154836517 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1734C>T (p.Ile578=)	single nucleotide variant	not provided [RCV002574489]	Chr3:155166975 [GRCh38] Chr3:154884764 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.444T>C (p.Ala148=)	single nucleotide variant	not provided [RCV002851471]	Chr3:155116668 [GRCh38] Chr3:154834457 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.721-15A>G	single nucleotide variant	not provided [RCV002575447]	Chr3:155138087 [GRCh38] Chr3:154855876 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.535+1G>C	single nucleotide variant	not provided [RCV003039668]	Chr3:155116760 [GRCh38] Chr3:154834549 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.558A>C (p.Lys186Asn)	single nucleotide variant	Inborn genetic diseases [RCV002827521]	Chr3:155116890 [GRCh38] Chr3:154834679 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1337A>G (p.Gln446Arg)	single nucleotide variant	Inborn genetic diseases [RCV004066617]\|not provided [RCV002649710]	Chr3:155144378 [GRCh38] Chr3:154862167 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.217A>G (p.Met73Val)	single nucleotide variant	not provided [RCV002651757]	Chr3:155115014 [GRCh38] Chr3:154832803 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1450G>C (p.Asp484His)	single nucleotide variant	not provided [RCV002715227]	Chr3:155147177 [GRCh38] Chr3:154864966 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1416+15G>A	single nucleotide variant	not provided [RCV002649827]	Chr3:155144472 [GRCh38] Chr3:154862261 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.683C>G (p.Ser228Cys)	single nucleotide variant	not provided [RCV003009142]	Chr3:155118774 [GRCh38] Chr3:154836563 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2076+20T>A	single nucleotide variant	not provided [RCV002601372]	Chr3:155172232 [GRCh38] Chr3:154890021 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.121_125delinsCTATGA (p.Ile41_Ala42delinsLeuTer)	indel	not provided [RCV003010255]	Chr3:155084288..155084292 [GRCh38] Chr3:154802077..154802081 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.769C>G (p.Arg257Gly)	single nucleotide variant	not provided [RCV002806247]	Chr3:155138150 [GRCh38] Chr3:154855939 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2189C>G (p.Ser730Ter)	single nucleotide variant	not provided [RCV002899201]	Chr3:155180395 [GRCh38] Chr3:154898184 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2154-12T>G	single nucleotide variant	not provided [RCV002577888]	Chr3:155180348 [GRCh38] Chr3:154898137 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.855+19dup	duplication	not provided [RCV002597965]	Chr3:155138246..155138247 [GRCh38] Chr3:154856035..154856036 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.456A>G (p.Arg152=)	single nucleotide variant	not provided [RCV003045685]	Chr3:155116680 [GRCh38] Chr3:154834469 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1133A>T (p.Asp378Val)	single nucleotide variant	not provided [RCV002650386]	Chr3:155142275 [GRCh38] Chr3:154860064 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.763T>C (p.Leu255=)	single nucleotide variant	not provided [RCV002770749]	Chr3:155138144 [GRCh38] Chr3:154855933 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1256T>C (p.Met419Thr)	single nucleotide variant	not provided [RCV002581208]	Chr3:155143510 [GRCh38] Chr3:154861299 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1702C>A (p.Gln568Lys)	single nucleotide variant	not provided [RCV002720014]	Chr3:155166943 [GRCh38] Chr3:154884732 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1389C>A (p.Ala463=)	single nucleotide variant	not provided [RCV002649943]	Chr3:155144430 [GRCh38] Chr3:154862219 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.26A>G (p.Asp9Gly)	single nucleotide variant	not provided [RCV002671074]	Chr3:155084193 [GRCh38] Chr3:154801982 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1818G>A (p.Trp606Ter)	single nucleotide variant	not provided [RCV002580427]	Chr3:155168529 [GRCh38] Chr3:154886318 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.1094+1G>A	single nucleotide variant	not provided [RCV002631124]	Chr3:155142128 [GRCh38] Chr3:154859917 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.817A>G (p.Met273Val)	single nucleotide variant	not provided [RCV002650840]	Chr3:155138198 [GRCh38] Chr3:154855987 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2153G>A (p.Arg718Lys)	single nucleotide variant	not provided [RCV002597894]	Chr3:155172612 [GRCh38] Chr3:154890401 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.958-18A>G	single nucleotide variant	not provided [RCV002649434]	Chr3:155141973 [GRCh38] Chr3:154859762 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1915C>T (p.Leu639Phe)	single nucleotide variant	not provided [RCV002933759]	Chr3:155168732 [GRCh38] Chr3:154886521 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1042G>C (p.Ala348Pro)	single nucleotide variant	not provided [RCV002651758]	Chr3:155142075 [GRCh38] Chr3:154859864 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.53C>T (p.Pro18Leu)	single nucleotide variant	not provided [RCV002715599]	Chr3:155084220 [GRCh38] Chr3:154802009 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1489T>C (p.Tyr497His)	single nucleotide variant	not provided [RCV002581477]	Chr3:155147216 [GRCh38] Chr3:154865005 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1267G>C (p.Val423Leu)	single nucleotide variant	not provided [RCV002962815]	Chr3:155143521 [GRCh38] Chr3:154861310 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1248T>C (p.Asn416=)	single nucleotide variant	not provided [RCV003046806]	Chr3:155143502 [GRCh38] Chr3:154861291 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1602-11G>C	single nucleotide variant	not provided [RCV002811498]	Chr3:155160379 [GRCh38] Chr3:154878168 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2207G>A (p.Arg736His)	single nucleotide variant	Inborn genetic diseases [RCV002669301]	Chr3:155180413 [GRCh38] Chr3:154898202 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1686C>G (p.Pro562=)	single nucleotide variant	not provided [RCV002599552]	Chr3:155166927 [GRCh38] Chr3:154884716 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.957+20T>A	single nucleotide variant	not provided [RCV002653956]	Chr3:155140312 [GRCh38] Chr3:154858101 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2193A>C (p.Glu731Asp)	single nucleotide variant	Inborn genetic diseases [RCV002814218]	Chr3:155180399 [GRCh38] Chr3:154898188 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.312C>T (p.Tyr104=)	single nucleotide variant	not provided [RCV003069904]	Chr3:155115109 [GRCh38] Chr3:154832898 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.2076+19T>C	single nucleotide variant	not provided [RCV003032265]	Chr3:155172231 [GRCh38] Chr3:154890020 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1684C>T (p.Pro562Ser)	single nucleotide variant	Inborn genetic diseases [RCV002723853]	Chr3:155166925 [GRCh38] Chr3:154884714 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1849G>A (p.Glu617Lys)	single nucleotide variant	not provided [RCV002654456]	Chr3:155168560 [GRCh38] Chr3:154886349 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2109G>A (p.Ala703=)	single nucleotide variant	not provided [RCV002583658]	Chr3:155172568 [GRCh38] Chr3:154890357 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2011G>A (p.Glu671Lys)	single nucleotide variant	not provided [RCV002585046]	Chr3:155172147 [GRCh38] Chr3:154889936 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2198T>C (p.Phe733Ser)	single nucleotide variant	not provided [RCV002653136]	Chr3:155180404 [GRCh38] Chr3:154898193 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1440C>T (p.Ile480=)	single nucleotide variant	not provided [RCV003092742]	Chr3:155147167 [GRCh38] Chr3:154864956 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.757G>C (p.Ala253Pro)	single nucleotide variant	not provided [RCV002583291]	Chr3:155138138 [GRCh38] Chr3:154855927 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1869G>A (p.Val623=)	single nucleotide variant	not provided [RCV002814721]	Chr3:155168580 [GRCh38] Chr3:154886369 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.161-15C>A	single nucleotide variant	not provided [RCV002582836]	Chr3:155085044 [GRCh38] Chr3:154802833 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.160+1G>A	single nucleotide variant	not provided [RCV003143994]	Chr3:155084328 [GRCh38] Chr3:154802117 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.154T>G (p.Tyr52Asp)	single nucleotide variant	not provided [RCV003050366]	Chr3:155084321 [GRCh38] Chr3:154802110 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.103G>A (p.Val35Ile)	single nucleotide variant	not provided [RCV002654085]	Chr3:155084270 [GRCh38] Chr3:154802059 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.471A>C (p.Leu157=)	single nucleotide variant	not provided [RCV002586119]	Chr3:155116695 [GRCh38] Chr3:154834484 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1780+8G>T	single nucleotide variant	not provided [RCV002587043]	Chr3:155167029 [GRCh38] Chr3:154884818 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1030G>A (p.Val344Met)	single nucleotide variant	not provided [RCV003052006]	Chr3:155142063 [GRCh38] Chr3:154859852 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2175C>T (p.Asn725=)	single nucleotide variant	not provided [RCV002589821]	Chr3:155180381 [GRCh38] Chr3:154898170 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1188+1G>A	single nucleotide variant	not provided [RCV002680667]	Chr3:155142331 [GRCh38] Chr3:154860120 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.1339A>G (p.Ile447Val)	single nucleotide variant	Inborn genetic diseases [RCV002680729]\|not provided [RCV002680730]	Chr3:155144380 [GRCh38] Chr3:154862169 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.888A>G (p.Pro296=)	single nucleotide variant	not provided [RCV002604651]	Chr3:155140223 [GRCh38] Chr3:154858012 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1730G>A (p.Gly577Asp)	single nucleotide variant	not provided [RCV002586463]	Chr3:155166971 [GRCh38] Chr3:154884760 [GRCh37] Chr3:3q25.2	pathogenic\|likely pathogenic
NM_007289.4(MME):c.391G>A (p.Val131Ile)	single nucleotide variant	not provided [RCV002613322]	Chr3:155116511 [GRCh38] Chr3:154834300 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1473C>T (p.Asn491=)	single nucleotide variant	not provided [RCV002657878]	Chr3:155147200 [GRCh38] Chr3:154864989 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.851C>T (p.Ala284Val)	single nucleotide variant	not provided [RCV002609475]	Chr3:155138232 [GRCh38] Chr3:154856021 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.161-17T>G	single nucleotide variant	not provided [RCV002587558]	Chr3:155085042 [GRCh38] Chr3:154802831 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1033G>C (p.Val345Leu)	single nucleotide variant	not provided [RCV003132661]	Chr3:155142066 [GRCh38] Chr3:154859855 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1526A>G (p.Glu509Gly)	single nucleotide variant	not provided [RCV003132662]	Chr3:155148578 [GRCh38] Chr3:154866367 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1624G>C (p.Val542Leu)	single nucleotide variant	not provided [RCV003321267]	Chr3:155160412 [GRCh38] Chr3:154878201 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.655-4A>G	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV003326228]\|not provided [RCV003777366]	Chr3:155118742 [GRCh38] Chr3:154836531 [GRCh37] Chr3:3q25.2	likely benign\|uncertain significance
NM_007289.4(MME):c.1319T>A (p.Val440Asp)	single nucleotide variant	not provided [RCV003327129]	Chr3:155144360 [GRCh38] Chr3:154862149 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1500G>T (p.Leu500Phe)	single nucleotide variant	not specified [RCV003330445]	Chr3:155148552 [GRCh38] Chr3:154866341 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1119_1127del (p.Trp373_Ile376delinsTer)	deletion	Charcot-Marie-Tooth disease axonal type 2T [RCV003331980]	Chr3:155142261..155142269 [GRCh38] Chr3:154860050..154860058 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.329T>G (p.Leu110Ter)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV003444539]	Chr3:155115126 [GRCh38] Chr3:154832915 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.884A>T (p.Asp295Val)	single nucleotide variant	Inborn genetic diseases [RCV003386509]	Chr3:155140219 [GRCh38] Chr3:154858008 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1184G>T (p.Arg395Leu)	single nucleotide variant	Inborn genetic diseases [RCV003369975]	Chr3:155142326 [GRCh38] Chr3:154860115 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.238T>C (p.Cys80Arg)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV004560359]	Chr3:155115035 [GRCh38] Chr3:154832824 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.378A>T (p.Lys126Asn)	single nucleotide variant	not provided [RCV003481714]	Chr3:155116498 [GRCh38] Chr3:154834287 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.799A>T (p.Asn267Tyr)	single nucleotide variant	not provided [RCV003873469]	Chr3:155138180 [GRCh38] Chr3:154855969 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.19dup (p.Gln7fs)	duplication	not provided [RCV003570959]	Chr3:155084185..155084186 [GRCh38] Chr3:154801974..154801975 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.196+4771G>C	single nucleotide variant	not provided [RCV003434779]	Chr3:155089865 [GRCh38] Chr3:154807654 [GRCh37] Chr3:3q25.2	likely benign
Single allele	duplication	not provided [RCV003448680]	Chr3:140154329..197847235 [GRCh37] Chr3:3q23-29	pathogenic
NM_007289.4(MME):c.844G>T (p.Glu282Ter)	single nucleotide variant	MME-related disorder [RCV003399828]	Chr3:155138225 [GRCh38] Chr3:154856014 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.1892G>A (p.Trp631Ter)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV003445419]	Chr3:155168603 [GRCh38] Chr3:154886392 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.1250G>A (p.Gly417Glu)	single nucleotide variant	MME-related disorder [RCV003414546]	Chr3:155143504 [GRCh38] Chr3:154861293 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.984T>C (p.Asn328=)	single nucleotide variant	not provided [RCV003439036]	Chr3:155142017 [GRCh38] Chr3:154859806 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2163G>A (p.Gly721=)	single nucleotide variant	not provided [RCV003434780]	Chr3:155180369 [GRCh38] Chr3:154898158 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.855+9C>T	single nucleotide variant	not provided [RCV003687196]	Chr3:155138245 [GRCh38] Chr3:154856034 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1417-13A>G	single nucleotide variant	not provided [RCV003696502]	Chr3:155147131 [GRCh38] Chr3:154864920 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1770C>T (p.Phe590=)	single nucleotide variant	not provided [RCV003740328]	Chr3:155167011 [GRCh38] Chr3:154884800 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1158C>G (p.Thr386=)	single nucleotide variant	not provided [RCV003575560]	Chr3:155142300 [GRCh38] Chr3:154860089 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.358+15T>C	single nucleotide variant	not provided [RCV003695751]	Chr3:155115170 [GRCh38] Chr3:154832959 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1601+4C>T	single nucleotide variant	not specified [RCV003490896]	Chr3:155148657 [GRCh38] Chr3:154866446 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.655-5dup	duplication	not provided [RCV003576320]	Chr3:155118735..155118736 [GRCh38] Chr3:154836524..154836525 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.117C>G (p.Thr39=)	single nucleotide variant	not provided [RCV003576410]	Chr3:155084284 [GRCh38] Chr3:154802073 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.721-20G>A	single nucleotide variant	not provided [RCV003573706]	Chr3:155138082 [GRCh38] Chr3:154855871 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.771T>C (p.Arg257=)	single nucleotide variant	not provided [RCV003545870]	Chr3:155138152 [GRCh38] Chr3:154855941 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1915-16G>T	single nucleotide variant	not provided [RCV003660127]	Chr3:155168716 [GRCh38] Chr3:154886505 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.439+12T>C	single nucleotide variant	not provided [RCV003574658]	Chr3:155116571 [GRCh38] Chr3:154834360 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1601+2T>C	single nucleotide variant	not provided [RCV003661738]	Chr3:155148655 [GRCh38] Chr3:154866444 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.1189-15T>G	single nucleotide variant	not provided [RCV003695483]	Chr3:155143428 [GRCh38] Chr3:154861217 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.439+7G>A	single nucleotide variant	not provided [RCV003691464]	Chr3:155116566 [GRCh38] Chr3:154834355 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2076+1G>A	single nucleotide variant	not provided [RCV003688362]	Chr3:155172213 [GRCh38] Chr3:154890002 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.1452T>C (p.Asp484=)	single nucleotide variant	not provided [RCV003573991]	Chr3:155147179 [GRCh38] Chr3:154864968 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.312C>A (p.Tyr104Ter)	single nucleotide variant	not provided [RCV003714505]	Chr3:155115109 [GRCh38] Chr3:154832898 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.1575G>A (p.Lys525=)	single nucleotide variant	not provided [RCV003664333]	Chr3:155148627 [GRCh38] Chr3:154866416 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.721-8del	deletion	not provided [RCV003810955]	Chr3:155138088 [GRCh38] Chr3:154855877 [GRCh37] Chr3:3q25.2	benign
NM_007289.4(MME):c.2181A>G (p.Ala727=)	single nucleotide variant	not provided [RCV003550074]	Chr3:155180387 [GRCh38] Chr3:154898176 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.655-7T>A	single nucleotide variant	not provided [RCV003703664]	Chr3:155118739 [GRCh38] Chr3:154836528 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.439+9T>C	single nucleotide variant	not provided [RCV003703666]	Chr3:155116568 [GRCh38] Chr3:154834357 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.440-13T>C	single nucleotide variant	not provided [RCV003833500]	Chr3:155116651 [GRCh38] Chr3:154834440 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1030_1039dup (p.Tyr347fs)	duplication	not provided [RCV003697859]	Chr3:155142061..155142062 [GRCh38] Chr3:154859850..154859851 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.1095-7T>C	single nucleotide variant	not provided [RCV003833539]	Chr3:155142230 [GRCh38] Chr3:154860019 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1400del (p.Lys467fs)	deletion	not provided [RCV003673837]	Chr3:155144436 [GRCh38] Chr3:154862225 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.711C>A (p.Ile237=)	single nucleotide variant	not provided [RCV003817548]	Chr3:155118802 [GRCh38] Chr3:154836591 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2154-10del	deletion	not provided [RCV003834197]	Chr3:155180348 [GRCh38] Chr3:154898137 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.287T>C (p.Val96Ala)	single nucleotide variant	not provided [RCV003725652]	Chr3:155115084 [GRCh38] Chr3:154832873 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1035T>A (p.Val345=)	single nucleotide variant	not provided [RCV003669861]	Chr3:155142068 [GRCh38] Chr3:154859857 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1660+12T>C	single nucleotide variant	not provided [RCV003839585]	Chr3:155160460 [GRCh38] Chr3:154878249 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2076+15T>G	single nucleotide variant	not provided [RCV003703194]	Chr3:155172227 [GRCh38] Chr3:154890016 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.600T>C (p.Leu200=)	single nucleotide variant	not provided [RCV003726433]	Chr3:155116932 [GRCh38] Chr3:154834721 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1094+18C>A	single nucleotide variant	not provided [RCV003672136]	Chr3:155142145 [GRCh38] Chr3:154859934 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.11C>G (p.Ser4Ter)	single nucleotide variant	not provided [RCV003724159]	Chr3:155084178 [GRCh38] Chr3:154801967 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.1395A>C (p.Thr465=)	single nucleotide variant	not provided [RCV003666441]	Chr3:155144436 [GRCh38] Chr3:154862225 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1914+14A>G	single nucleotide variant	not provided [RCV003667718]	Chr3:155168639 [GRCh38] Chr3:154886428 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1887_1888del (p.Ser630fs)	deletion	not provided [RCV003580197]	Chr3:155168596..155168597 [GRCh38] Chr3:154886385..154886386 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.1602-4A>G	single nucleotide variant	not provided [RCV003729578]	Chr3:155160386 [GRCh38] Chr3:154878175 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1660+9T>C	single nucleotide variant	not provided [RCV003565949]	Chr3:155160457 [GRCh38] Chr3:154878246 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1188+13T>A	single nucleotide variant	not provided [RCV003862213]	Chr3:155142343 [GRCh38] Chr3:154860132 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.258T>C (p.Tyr86=)	single nucleotide variant	not provided [RCV003707774]	Chr3:155115055 [GRCh38] Chr3:154832844 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1781-7A>G	single nucleotide variant	not provided [RCV003853061]	Chr3:155168485 [GRCh38] Chr3:154886274 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2153+16C>T	single nucleotide variant	not provided [RCV003676159]	Chr3:155172628 [GRCh38] Chr3:154890417 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.721-16T>C	single nucleotide variant	not provided [RCV003707037]	Chr3:155138086 [GRCh38] Chr3:154855875 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2076+19T>G	single nucleotide variant	not provided [RCV003819298]	Chr3:155172231 [GRCh38] Chr3:154890020 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.792C>T (p.Ile264=)	single nucleotide variant	not provided [RCV003824273]	Chr3:155138173 [GRCh38] Chr3:154855962 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1689del (p.Phe564fs)	deletion	not provided [RCV003867428]	Chr3:155166925 [GRCh38] Chr3:154884714 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.1599T>C (p.Asp533=)	single nucleotide variant	not provided [RCV003842193]	Chr3:155148651 [GRCh38] Chr3:154866440 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1229G>A (p.Arg410His)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV004546817]\|not provided [RCV003871969]	Chr3:155143483 [GRCh38] Chr3:154861272 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1718T>A (p.Leu573Ter)	single nucleotide variant	not provided [RCV003542132]	Chr3:155166959 [GRCh38] Chr3:154884748 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.1449T>C (p.Pro483=)	single nucleotide variant	not provided [RCV003680037]	Chr3:155147176 [GRCh38] Chr3:154864965 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.2178T>G (p.Ser726=)	single nucleotide variant	not provided [RCV003860825]	Chr3:155180384 [GRCh38] Chr3:154898173 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1149C>G (p.Leu383=)	single nucleotide variant	not provided [RCV003868425]	Chr3:155142291 [GRCh38] Chr3:154860080 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.189A>C (p.Ile63=)	single nucleotide variant	not provided [RCV003871115]	Chr3:155085087 [GRCh38] Chr3:154802876 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.78A>G (p.Pro26=)	single nucleotide variant	not provided [RCV003737289]	Chr3:155084245 [GRCh38] Chr3:154802034 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1604G>A (p.Trp535Ter)	single nucleotide variant	not provided [RCV003721461]	Chr3:155160392 [GRCh38] Chr3:154878181 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.439+1G>A	single nucleotide variant	not provided [RCV003708080]	Chr3:155116560 [GRCh38] Chr3:154834349 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.535+19T>A	single nucleotide variant	not provided [RCV003710024]	Chr3:155116778 [GRCh38] Chr3:154834567 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1980+22del	deletion	not provided [RCV003862019]	Chr3:155168817 [GRCh38] Chr3:154886606 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1188+16C>G	single nucleotide variant	not provided [RCV003844167]	Chr3:155142346 [GRCh38] Chr3:154860135 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.958-10T>C	single nucleotide variant	not provided [RCV003676870]	Chr3:155141981 [GRCh38] Chr3:154859770 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1781-7A>C	single nucleotide variant	not provided [RCV003846265]	Chr3:155168485 [GRCh38] Chr3:154886274 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1602-12T>C	single nucleotide variant	not provided [RCV003844574]	Chr3:155160378 [GRCh38] Chr3:154878167 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.957+1G>A	single nucleotide variant	not provided [RCV003566020]	Chr3:155140293 [GRCh38] Chr3:154858082 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.1066A>T (p.Lys356Ter)	single nucleotide variant	not provided [RCV003564848]	Chr3:155142099 [GRCh38] Chr3:154859888 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.1500G>A (p.Leu500=)	single nucleotide variant	not provided [RCV003864384]	Chr3:155148552 [GRCh38] Chr3:154866341 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.407C>A (p.Ala136Glu)	single nucleotide variant	not provided [RCV003563707]	Chr3:155116527 [GRCh38] Chr3:154834316 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1781-10T>C	single nucleotide variant	not provided [RCV003845070]	Chr3:155168482 [GRCh38] Chr3:154886271 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1645G>T (p.Gly549Ter)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV004546816]\|MME-related disorder [RCV003893522]\|not provided [RCV003857428]	Chr3:155160433 [GRCh38] Chr3:154878222 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.1416+16C>T	single nucleotide variant	not provided [RCV003863772]	Chr3:155144473 [GRCh38] Chr3:154862262 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.381T>A (p.Thr127=)	single nucleotide variant	not provided [RCV003551085]	Chr3:155116501 [GRCh38] Chr3:154834290 [GRCh37] Chr3:3q25.2	likely benign
NM_007289.4(MME):c.1064T>A (p.Leu355His)	single nucleotide variant	not specified [RCV003995127]	Chr3:155142097 [GRCh38] Chr3:154859886 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.55A>G (p.Lys19Glu)	single nucleotide variant	Inborn genetic diseases [RCV004514887]	Chr3:155084222 [GRCh38] Chr3:154802011 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1557A>C (p.Gln519His)	single nucleotide variant	not specified [RCV003988546]	Chr3:155148609 [GRCh38] Chr3:154866398 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2122A>T (p.Lys708Ter)	single nucleotide variant	MME-related distal hereditary motor neuropathies [RCV003988803]	Chr3:155172581 [GRCh38] Chr3:154890370 [GRCh37] Chr3:3q25.2	pathogenic
NC_000003.11:g.(?_154798107)_(154802884_154832782)del	deletion	Charcot-Marie-Tooth disease axonal type 2T [RCV004527065]	Chr3:154798107..154802884 [GRCh37] Chr3:3q25.2	pathogenic
NM_007289.4(MME):c.1821G>A (p.Trp607Ter)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV004555377]	Chr3:155168532 [GRCh38] Chr3:154886321 [GRCh37] Chr3:3q25.2	likely pathogenic
NM_007289.4(MME):c.993G>T (p.Met331Ile)	single nucleotide variant	not provided [RCV004696577]\|not specified [RCV003988322]	Chr3:155142026 [GRCh38] Chr3:154859815 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.997A>G (p.Thr333Ala)	single nucleotide variant	Inborn genetic diseases [RCV004515084]	Chr3:155142030 [GRCh38] Chr3:154859819 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2071G>A (p.Ala691Thr)	single nucleotide variant	Inborn genetic diseases [RCV004510291]	Chr3:155172207 [GRCh38] Chr3:154889996 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.548C>G (p.Thr183Arg)	single nucleotide variant	not specified [RCV004587763]	Chr3:155116880 [GRCh38] Chr3:154834669 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1345G>C (p.Glu449Gln)	single nucleotide variant	Inborn genetic diseases [RCV004641060]	Chr3:155144386 [GRCh38] Chr3:154862175 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2235G>T (p.Lys745Asn)	single nucleotide variant	Inborn genetic diseases [RCV004641061]\|not provided [RCV004721818]	Chr3:155180441 [GRCh38] Chr3:154898230 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2035G>T (p.Asp679Tyr)	single nucleotide variant	not provided [RCV004590571]	Chr3:155172171 [GRCh38] Chr3:154889960 [GRCh37] Chr3:3q25.2	uncertain significance
NC_000003.11:g.(?_154834637)_(156272878_?)del	deletion	not provided [RCV004582258]	Chr3:154834637..156272878 [GRCh37] Chr3:3q25.2-25.31	uncertain significance
NC_000003.11:g.(?_154864930)_(154876652_?)del	deletion	not provided [RCV004582292]	Chr3:154864930..154876652 [GRCh37] Chr3:3q25.2	pathogenic
NC_000003.11:g.(?_154858078)_(155056072_?)del	deletion	not provided [RCV004582293]	Chr3:154858078..155056072 [GRCh37] Chr3:3q25.2-25.31	pathogenic
NM_007289.4(MME):c.1799A>G (p.Asp600Gly)	single nucleotide variant	Inborn genetic diseases [RCV004641058]	Chr3:155168510 [GRCh38] Chr3:154886299 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.2155A>G (p.Ile719Val)	single nucleotide variant	Inborn genetic diseases [RCV004641059]	Chr3:155180361 [GRCh38] Chr3:154898150 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1057A>G (p.Thr353Ala)	single nucleotide variant	not provided [RCV004772388]	Chr3:155142090 [GRCh38] Chr3:154859879 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.941T>C (p.Leu314Pro)	single nucleotide variant	not provided [RCV004769510]	Chr3:155140276 [GRCh38] Chr3:154858065 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1981G>A (p.Ala661Thr)	single nucleotide variant	not provided [RCV004772198]	Chr3:155172117 [GRCh38] Chr3:154889906 [GRCh37] Chr3:3q25.2	uncertain significance
NM_007289.4(MME):c.1148T>G (p.Leu383Arg)	single nucleotide variant	MME-related disorder [RCV004752246]\|not provided [RCV004759450]	Chr3:155142290 [GRCh38] Chr3:154860079 [GRCh37] Chr3:3q25.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3169
Count of miRNA genes:	1135
Interacting mature miRNAs:	1426
Transcripts:	ENST00000360490, ENST00000382989, ENST00000460393, ENST00000462745, ENST00000462837, ENST00000473730, ENST00000477669, ENST00000481828, ENST00000491026, ENST00000491597, ENST00000492661, ENST00000493237, ENST00000493888, ENST00000495577, ENST00000497890
Prediction methods:	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
406972197	GWAS621173_H	sclerosing cholangitis QTL GWAS621173 (human)		0.000003	sclerosing cholangitis		3	155089424	155089425	Human
407258144	GWAS907120_H	testosterone measurement QTL GWAS907120 (human)		2e-11	Alzheimer disease	serum testosterone level (CMO:0000568)	3	155084189	155084190	Human
407169996	GWAS818972_H	testosterone measurement QTL GWAS818972 (human)		3e-08	testosterone measurement	serum testosterone level (CMO:0000568)	3	155084189	155084190	Human
407389568	GWAS1038544_H	Alzheimer disease QTL GWAS1038544 (human)		2e-08	Alzheimer disease		3	155084189	155084190	Human
1300026	BP36_H	Blood pressure QTL 36 (human)	4.04		Blood pressure	hypertension susceptibility	3	135720453	161720453	Human
407419395	GWAS1068371_H	pulse pressure measurement QTL GWAS1068371 (human)		0.000006	pulse pressure measurement	pulse pressure (CMO:0000292)	3	155084189	155084190	Human
407182218	GWAS831194_H	Back pain QTL GWAS831194 (human)		1e-08	Back pain		3	155177962	155177963	Human
407372223	GWAS1021199_H	blood protein measurement QTL GWAS1021199 (human)		7e-33	blood protein measurement	blood protein measurement (CMO:0000028)	3	155069644	155069645	Human
407112254	GWAS761230_H	protein measurement QTL GWAS761230 (human)		7e-11	protein measurement		3	155028249	155028250	Human
1298415	BP24_H	Blood pressure QTL 24 (human)	2.9		Blood pressure	hypertension susceptibility	3	135720453	161720453	Human
407387156	GWAS1036132_H	testosterone measurement QTL GWAS1036132 (human)		1e-11	testosterone measurement	serum testosterone level (CMO:0000568)	3	155084189	155084190	Human
407180984	GWAS829960_H	Alzheimer disease QTL GWAS829960 (human)		4e-08	Alzheimer disease		3	155069722	155069723	Human
407200056	GWAS849032_H	Alzheimer disease QTL GWAS849032 (human)		0.000004	Alzheimer disease		3	155069722	155069723	Human
406885693	GWAS534669_H	systolic blood pressure QTL GWAS534669 (human)		9e-08	systolic blood pressure	systolic blood pressure (CMO:0000004)	3	155084189	155084190	Human
407114523	GWAS763499_H	protein measurement QTL GWAS763499 (human)		7e-10	protein measurement		3	155028249	155028250	Human

Markers in Region

SHGC-81275

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	154,822,857 - 154,823,144	UniSTS	GRCh37
Build 36	3	156,305,551 - 156,305,838	RGD	NCBI36
Celera	3	153,242,976 - 153,243,263	RGD
Cytogenetic Map	3	q25.2	UniSTS
HuRef	3	152,217,216 - 152,217,503	UniSTS
TNG Radiation Hybrid Map	3	87953.0	UniSTS

G62078

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	154,901,144 - 154,901,288	UniSTS	GRCh37
Build 36	3	156,383,838 - 156,383,982	RGD	NCBI36
Celera	3	153,321,149 - 153,321,293	RGD
Cytogenetic Map	3	q25.2	UniSTS
HuRef	3	152,295,488 - 152,295,632	UniSTS

GDB:181217

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	154,898,339 - 154,898,643	UniSTS	GRCh37
Build 36	3	156,381,033 - 156,381,337	RGD	NCBI36
Celera	3	153,318,344 - 153,318,648	RGD
Cytogenetic Map	3	q25.2	UniSTS
HuRef	3	152,292,683 - 152,292,987	UniSTS

SHGC-110011

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	154,874,553 - 154,874,894	UniSTS	GRCh37
Build 36	3	156,357,247 - 156,357,588	RGD	NCBI36
Celera	3	153,294,556 - 153,294,897	RGD
Cytogenetic Map	3	q25.2	UniSTS
HuRef	3	152,268,895 - 152,269,236	UniSTS
TNG Radiation Hybrid Map	3	87934.0	UniSTS

SHGC-146123

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	154,900,842 - 154,901,191	UniSTS	GRCh37
Build 36	3	156,383,536 - 156,383,885	RGD	NCBI36
Celera	3	153,320,847 - 153,321,196	RGD
Cytogenetic Map	3	q25.2	UniSTS
HuRef	3	152,295,186 - 152,295,535	UniSTS
TNG Radiation Hybrid Map	3	87921.0	UniSTS

SHGC-173666

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	154,813,280 - 154,813,594	UniSTS	GRCh37
Build 36	3	156,295,974 - 156,296,288	RGD	NCBI36
Celera	3	153,233,399 - 153,233,713	RGD
Cytogenetic Map	3	q25.2	UniSTS
HuRef	3	152,207,705 - 152,208,019	UniSTS
TNG Radiation Hybrid Map	3	87966.0	UniSTS

MME_1383

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	154,900,810 - 154,901,611	UniSTS	GRCh37
Build 36	3	156,383,504 - 156,384,305	RGD	NCBI36
Celera	3	153,320,815 - 153,321,616	RGD
HuRef	3	152,295,154 - 152,295,955	UniSTS

SHGC-35301

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	154,898,250 - 154,898,456	UniSTS	GRCh37
Build 36	3	156,380,944 - 156,381,150	RGD	NCBI36
Celera	3	153,318,255 - 153,318,461	RGD
Cytogenetic Map	3	q25.2	UniSTS
HuRef	3	152,292,594 - 152,292,800	UniSTS
Stanford-G3 RH Map	3	7027.0	UniSTS
NCBI RH Map	3	1377.1	UniSTS
GeneMap99-G3 RH Map	3	7497.0	UniSTS

RH1499

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	154,898,297 - 154,898,409	UniSTS	GRCh37
Build 36	3	156,380,991 - 156,381,103	RGD	NCBI36
Celera	3	153,318,302 - 153,318,414	RGD
Cytogenetic Map	3	q25.2	UniSTS
HuRef	3	152,292,641 - 152,292,753	UniSTS
GeneMap99-GB4 RH Map	3	570.74	UniSTS
NCBI RH Map	3	1346.3	UniSTS

SHGC-77474

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	154,899,169 - 154,899,309	UniSTS	GRCh37
Build 36	3	156,381,863 - 156,382,003	RGD	NCBI36
Celera	3	153,319,174 - 153,319,314	RGD
Cytogenetic Map	3	q25.2	UniSTS
HuRef	3	152,293,513 - 152,293,653	UniSTS
TNG Radiation Hybrid Map	3	87921.0	UniSTS
GeneMap99-GB4 RH Map	3	570.74	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	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2396	2788	2245	4917	1703	2291	6	607	1511	449	2261	6804	6023	35	3685	845	1718	1572	170	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_051105	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_000902	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001354642	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001354643	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001354644	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_007287	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_007288	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_007289	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006713647	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011512856	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011512857	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047448157	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054346569	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054346570	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054346571	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054346572	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC106724	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC117384	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH002677	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK291761	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK310664	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL833459	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC101632	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC101658	(Get FASTA)	NCBI Sequence Viewer

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 - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

Send us a Message