MME (membrane metalloendopeptidase) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
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
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383155,024,202 - 155,183,729 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3155,024,124 - 155,183,704 (+)EnsemblGRCh38hg38GRCh38
GRCh373154,741,991 - 154,901,518 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363156,280,130 - 156,384,212 (+)NCBINCBI36Build 36hg18NCBI36
Build 343156,280,756 - 156,384,194NCBI
Celera3153,217,556 - 153,321,523 (+)NCBICelera
Cytogenetic Map3q25.2NCBI
HuRef3152,191,860 - 152,295,862 (+)NCBIHuRef
CHM1_13154,760,481 - 154,864,540 (+)NCBICHM1_1
T2T-CHM13v2.03157,798,155 - 157,957,709 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
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 AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383155,024,202 - 155,183,729 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3155,024,124 - 155,183,704 (+)EnsemblGRCh38hg38GRCh38
GRCh373154,741,991 - 154,901,518 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363156,280,130 - 156,384,212 (+)NCBINCBI36Build 36hg18NCBI36
Build 343156,280,756 - 156,384,194NCBI
Celera3153,217,556 - 153,321,523 (+)NCBICelera
Cytogenetic Map3q25.2NCBI
HuRef3152,191,860 - 152,295,862 (+)NCBIHuRef
CHM1_13154,760,481 - 154,864,540 (+)NCBICHM1_1
T2T-CHM13v2.03157,798,155 - 157,957,709 (+)NCBIT2T-CHM13v2.0
Mme
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39363,202,632 - 63,291,134 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl363,148,958 - 63,293,451 (+)EnsemblGRCm39 Ensembl
GRCm38363,295,211 - 63,383,713 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl363,241,537 - 63,386,030 (+)EnsemblGRCm38mm10GRCm38
MGSCv37363,099,794 - 63,186,153 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36363,383,801 - 63,470,160 (+)NCBIMGSCv36mm8
Celera362,969,256 - 63,055,608 (+)NCBICelera
Cytogenetic Map3E1NCBI
cM Map329.97NCBI
Mme
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82149,806,826 - 149,957,381 (+)NCBIGRCr8
mRatBN7.22147,686,913 - 147,803,808 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2147,722,086 - 147,803,792 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2154,412,545 - 154,499,268 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02152,461,414 - 152,548,760 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02147,094,065 - 147,181,452 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02153,799,203 - 153,880,910 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2153,803,349 - 153,880,738 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02173,193,501 - 173,278,946 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42153,031,724 - 153,114,515 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12152,981,686 - 153,064,477 (+)NCBI
Celera2142,009,686 - 142,090,693 (+)NCBICelera
RH 3.4 Map2955.0RGD
Cytogenetic Map2q31NCBI
Mme
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554486,226,059 - 6,314,949 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554486,193,113 - 6,311,666 (+)NCBIChiLan1.0ChiLan1.0
MME
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22152,997,962 - 153,099,218 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13152,949,064 - 153,103,948 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03152,085,694 - 152,240,148 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13159,637,965 - 160,292,119 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3160,197,566 - 160,292,119 (+)Ensemblpanpan1.1panPan2
MME
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12348,966,222 - 49,059,919 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2348,971,066 - 49,059,919 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2348,843,474 - 48,934,858 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02349,596,559 - 49,692,908 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2349,593,076 - 49,694,136 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12349,187,708 - 49,279,020 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02349,238,095 - 49,328,993 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02349,521,230 - 49,612,145 (+)NCBIUU_Cfam_GSD_1.0
Mme
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560287,138,054 - 87,220,087 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365192,513,704 - 2,595,971 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365192,513,896 - 2,595,896 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MME
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1395,019,081 - 95,126,045 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11395,018,395 - 95,122,977 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213103,025,551 - 103,128,284 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MME
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11535,577,460 - 35,681,730 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1535,580,714 - 35,633,914 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660418,227,922 - 8,338,216 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mme
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473032,601,488 - 32,689,080 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473032,601,835 - 32,691,368 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406972197GWAS621173_Hsclerosing cholangitis QTL GWAS621173 (human)0.000003sclerosing cholangitis3155089424155089425Human
407258144GWAS907120_Htestosterone measurement QTL GWAS907120 (human)2e-11Alzheimer diseaseserum testosterone level (CMO:0000568)3155084189155084190Human
407169996GWAS818972_Htestosterone measurement QTL GWAS818972 (human)3e-08testosterone measurementserum testosterone level (CMO:0000568)3155084189155084190Human
407389568GWAS1038544_HAlzheimer disease QTL GWAS1038544 (human)2e-08Alzheimer disease3155084189155084190Human
1300026BP36_HBlood pressure QTL 36 (human)4.04Blood pressurehypertension susceptibility3135720453161720453Human
407419395GWAS1068371_Hpulse pressure measurement QTL GWAS1068371 (human)0.000006pulse pressure measurementpulse pressure (CMO:0000292)3155084189155084190Human
407182218GWAS831194_HBack pain QTL GWAS831194 (human)1e-08Back pain3155177962155177963Human
407372223GWAS1021199_Hblood protein measurement QTL GWAS1021199 (human)7e-33blood protein measurementblood protein measurement (CMO:0000028)3155069644155069645Human
407112254GWAS761230_Hprotein measurement QTL GWAS761230 (human)7e-11protein measurement3155028249155028250Human
1298415BP24_HBlood pressure QTL 24 (human)2.9Blood pressurehypertension susceptibility3135720453161720453Human
407387156GWAS1036132_Htestosterone measurement QTL GWAS1036132 (human)1e-11testosterone measurementserum testosterone level (CMO:0000568)3155084189155084190Human
407180984GWAS829960_HAlzheimer disease QTL GWAS829960 (human)4e-08Alzheimer disease3155069722155069723Human
407200056GWAS849032_HAlzheimer disease QTL GWAS849032 (human)0.000004Alzheimer disease3155069722155069723Human
406885693GWAS534669_Hsystolic blood pressure QTL GWAS534669 (human)9e-08systolic blood pressuresystolic blood pressure (CMO:0000004)3155084189155084190Human
407114523GWAS763499_Hprotein measurement QTL GWAS763499 (human)7e-10protein measurement3155028249155028250Human

Markers in Region
SHGC-81275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,822,857 - 154,823,144UniSTSGRCh37
Build 363156,305,551 - 156,305,838RGDNCBI36
Celera3153,242,976 - 153,243,263RGD
Cytogenetic Map3q25.2UniSTS
HuRef3152,217,216 - 152,217,503UniSTS
TNG Radiation Hybrid Map387953.0UniSTS
G62078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,901,144 - 154,901,288UniSTSGRCh37
Build 363156,383,838 - 156,383,982RGDNCBI36
Celera3153,321,149 - 153,321,293RGD
Cytogenetic Map3q25.2UniSTS
HuRef3152,295,488 - 152,295,632UniSTS
GDB:181217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,898,339 - 154,898,643UniSTSGRCh37
Build 363156,381,033 - 156,381,337RGDNCBI36
Celera3153,318,344 - 153,318,648RGD
Cytogenetic Map3q25.2UniSTS
HuRef3152,292,683 - 152,292,987UniSTS
SHGC-110011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,874,553 - 154,874,894UniSTSGRCh37
Build 363156,357,247 - 156,357,588RGDNCBI36
Celera3153,294,556 - 153,294,897RGD
Cytogenetic Map3q25.2UniSTS
HuRef3152,268,895 - 152,269,236UniSTS
TNG Radiation Hybrid Map387934.0UniSTS
SHGC-146123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,900,842 - 154,901,191UniSTSGRCh37
Build 363156,383,536 - 156,383,885RGDNCBI36
Celera3153,320,847 - 153,321,196RGD
Cytogenetic Map3q25.2UniSTS
HuRef3152,295,186 - 152,295,535UniSTS
TNG Radiation Hybrid Map387921.0UniSTS
SHGC-173666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,813,280 - 154,813,594UniSTSGRCh37
Build 363156,295,974 - 156,296,288RGDNCBI36
Celera3153,233,399 - 153,233,713RGD
Cytogenetic Map3q25.2UniSTS
HuRef3152,207,705 - 152,208,019UniSTS
TNG Radiation Hybrid Map387966.0UniSTS
MME_1383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,900,810 - 154,901,611UniSTSGRCh37
Build 363156,383,504 - 156,384,305RGDNCBI36
Celera3153,320,815 - 153,321,616RGD
HuRef3152,295,154 - 152,295,955UniSTS
SHGC-35301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,898,250 - 154,898,456UniSTSGRCh37
Build 363156,380,944 - 156,381,150RGDNCBI36
Celera3153,318,255 - 153,318,461RGD
Cytogenetic Map3q25.2UniSTS
HuRef3152,292,594 - 152,292,800UniSTS
Stanford-G3 RH Map37027.0UniSTS
NCBI RH Map31377.1UniSTS
GeneMap99-G3 RH Map37497.0UniSTS
RH1499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,898,297 - 154,898,409UniSTSGRCh37
Build 363156,380,991 - 156,381,103RGDNCBI36
Celera3153,318,302 - 153,318,414RGD
Cytogenetic Map3q25.2UniSTS
HuRef3152,292,641 - 152,292,753UniSTS
GeneMap99-GB4 RH Map3570.74UniSTS
NCBI RH Map31346.3UniSTS
SHGC-77474  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,899,169 - 154,899,309UniSTSGRCh37
Build 363156,381,863 - 156,382,003RGDNCBI36
Celera3153,319,174 - 153,319,314RGD
Cytogenetic Map3q25.2UniSTS
HuRef3152,293,513 - 152,293,653UniSTS
TNG Radiation Hybrid Map387921.0UniSTS
GeneMap99-GB4 RH Map3570.74UniSTS


Expression

RNA-SEQ Expression

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