MITOMAP: Reported Mitochondrial DNA Base Substitution Diseases: Coding and Control Region Point Mutations

Last Edited: Dec 13, 2022

The GB frequency data in Mitomap is derived from 59389 GenBank sequences with size greater than 15.4kbp and 78884 Control Region sequences with size 0.4-1.6kbp. These sequences have been pre-loaded into Mitomaster and represent almost all haplogroups known to date. We will be updating and refining this set of sequences on a regular basis. As a caveat, please note that GenBank sequences may not be of equal quality (Yao, et al, 2009), that some of these sequences are from individuals with past, current or future disease, and that this portion of our data set has not been hand-curated by Mitomap.

For more details about the current GenBank sequence set, please see http://www.mitomap.org/MITOMAP/GBFreqInfo

Locus Disease Allele Nucleotide
Position
Nucleotide
Change
Amino Acid Change Homo-plasmy Hetero-plasmy Status References
"MT-CR","m.114C>T",114,"C-T","noncoding","+/-","BD-associated","Reported","0.426%
(0.153%)","253 (121)","1""MT-CR","m.146T>C",146,"T-C","noncoding","+/-","Absence of Endometriosis","Reported","19.010%
(12.047%)","11290 (9503)","1""MT-CR","m.150C>T",150,"C-T","noncoding","+/+","Longevity / Cervical Carcinoma / HPV infection risk","Conflicting reports","12.972%
(9.514%)","7704 (7505)","9""MT-CR","m.185G>A",185,"G-A","noncoding","+/-","Low VO2max response","Reported","4.011%
(1.994%)","2382 (1573)","1""MT-CR","m.195T>C",195,"T-C","noncoding","+/+","BD-associated / melanoma pts","Reported","18.877%
(11.779%)","11211 (9292)","3""MT-CR","m.228G>A",228,"G-A","noncoding","+/-","Low VO2max response","Reported","2.733%
(0.863%)","1623 (681)","1""MT-CR","m.295C>T",295,"C-T","noncoding","+/-","Low VO2max response","Reported","4.838%
(1.761%)","2873 (1389)","2""MT-CR","m.309_310insC",309,"C-CC","noncoding","nr/nr","AD-weakly associated","Reported","1.036%
(1.216%)","615 (959)","1""MT-CR","m.309_310insCC",309,"C-CCC","noncoding","nr/nr","Higher in melanoma patient group","Reported","0.025%
(0.001%)","15 (1)","1""MT-CR","m.310T>C",310,"T-C","noncoding","/","Possible protective factor for normal tension glaucoma","Reported","40.230%
(28.373%)","23892 (22382)","1""MT-CR","m.315_316insC",315,"C-CC","noncoding","nr/nr","Melanoma patients","Reported","30.563%
(20.478%)","18151 (16154)","1""MT-CR","m.351A>G",351,"A-G","noncoding","nr/nr","Patient with CPEO","Reported","0.000%
(0.003%)","0 (2)","1""MT-CR","m.462C>T",462,"C-T","noncoding","+/-","Low VO2max response","Reported","3.666%
(0.948%)","2177 (748)","2""MT-CR","m.489T>C",489,"T-C","noncoding","+/-","Low VO2max response","Reported","25.112%
(15.382%)","14914 (12134)","1""MT-CR","m.499G>A",499,"G-A","noncoding","+/-","Endometriosis / possible protective factor for high altitude sicknes","Reported","3.842%
(1.941%)","2282 (1531)","2""MT-CR","m.547A>T",547,"A-T","noncoding","+/-","Tubulointerstitial kidney disease","Reported","0.000%
(0.000%)","0 (0)","1""MT-CR","m.573_574insCC",573,"C-CCC","noncoding","+/-","Absence of Endometriosis","Reported","0.141%
(0.003%)","84 (2)","1""MT-CR","m.576A>G",576,"A-G","noncoding MT-TF precursor","nr/nr","Hearing loss patient","Reported","0.005%
(0.008%)","3 (6)","1""MT-ND1","m.3308T>C",3308,"T-C","M1T","-/+","MELAS / DEAF enhancer / hypertension / LVNC / putative LHON","Reported - possibly synergistic; hg L1b and A2i marker","0.690%
(0.000%)","410 (0)","16""MT-ND1","m.3308T>G",3308,"T-G","M1term","+/+","Sudden Infant Death","Reported","0.010%
(0.000%)","6 (0)","1""MT-ND1","m.3310C>T",3310,"C-T","P2S","+/+","Diabetes / HCM","Reported","0.022%
(0.000%)","13 (0)","7""MT-ND1","m.3316G>A",3316,"G-A","A4T","+/-","Diabetes / LHON / PEO / vascular dementia","Reported; hg D1 D2 M33 R30 marker","0.938%
(0.000%)","557 (0)","22""MT-ND1","m.3335T>C",3335,"T-C","I10T","+/-","LHON","Reported","0.101%
(0.000%)","60 (0)","1""MT-ND1","m.3336T>C",3336,"T-C","I10I","-/+","Carotid atherosclerosis risk","Reported","0.367%
(0.000%)","218 (0)","3""MT-ND1","m.3337G>A",3337,"G-A","V11M","+/-","Cardiomyopathy","Reported - possibly synergistic","0.153%
(0.000%)","91 (0)","2""MT-ND1","m.3340C>T",3340,"C-T","P12S","+/-","Encephaloneuromyopathy","Reported","0.005%
(0.000%)","3 (0)","3""MT-ND1","m.3365T>C",3365,"T-C","L20P","-/+","EXIT","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND1","m.3376G>A",3376,"G-A","E24K","+/+","LHON MELAS overlap","Cfrm [VUS*]","0.000%
(0.000%)","0 (0)","4""MT-ND1","m.3380G>A",3380,"G-A","R25Q","-/+","MELAS","Reported","0.005%
(0.000%)","3 (0)","2""MT-ND1","m.3388C>A",3388,"C-A","L28M","nr/nr","Materally Inherited Nonsyndromic Deafness","Reported","0.051%
(0.000%)","30 (0)","1""MT-ND1","m.3391G>A",3391,"G-A","G29S","+/-","LHON","Reported","0.091%
(0.000%)","54 (0)","1""MT-ND1","m.3394T>C",3394,"T-C","Y30H","+/-","LHON / Diabetes / CPTdeficiency / high altitude adaptation","Reported as population-dependent; hg M marker","1.303%
(0.000%)","774 (0)","42""MT-ND1","m.3395A>G",3395,"A-G","Y30C","+/+","LHON / HCM with hearing loss","Reported","0.045%
(0.000%)","27 (0)","9""MT-ND1","m.3396T>C",3396,"T-C","Y30Y","+/-","NSHL / MIDD","Reported / Unclear","0.761%
(0.000%)","452 (0)","2""MT-ND1","m.3397A>G",3397,"A-G","M31V","+/-","ADPD / possibly LVNC-cardiomyopathy associated / resistance to high altitude pulmonary edema","Reported","0.280%
(0.000%)","166 (0)","11""MT-ND1","m.3398T>C",3398,"T-C","M31T","+/-","DMDF+HCM / GDM / possibly LVNC cardiomyopathy-associated","Reported","0.431%
(0.000%)","256 (0)","5""MT-ND1","m.3399A>T",3399,"A-T","M31I","+/-","Gestational Diabetes (GDM)","Reported","0.044%
(0.000%)","26 (0)","1""MT-ND1","m.3407G>A",3407,"G-A","R34H","+/-","HCM / Muscle involvement","Conflicting reports","0.002%
(0.000%)","1 (0)","4""MT-ND1","m.3418A>G",3418,"A-G","N38D","+/-","AMegL","Reported","0.002%
(0.000%)","1 (0)","2""MT-ND1","m.3421G>A",3421,"G-A","V39I","+/-","MIDD","Reported","0.135%
(0.000%)","80 (0)","2""MT-ND1","m.3460G>A",3460,"G-A","A52T","+/+","LHON","Cfrm","0.052%
(0.000%)","31 (0)","217""MT-ND1","m.3461C>T",3461,"C-T","A52V","nr/nr","LHON","Reported","0.000%
(0.000%)","0 (0)","2""MT-ND1","m.3472T>C",3472,"T-C","F56L","+/+","LHON","Reported","0.008%
(0.000%)","5 (0)","7""MT-ND1","m.3481G>A",3481,"G-A","E59K","-/+","MELAS / Progressive Encephalomyopathy","Reported","0.000%
(0.000%)","0 (0)","3""MT-ND1","m.3488T>C",3488,"T-C","L61P","+/-","LHON","Reported","0.002%
(0.000%)","1 (0)","1""MT-ND1","m.3496G>T",3496,"G-T","A64S","+/-","LHON","Reported / Secondary","0.019%
(0.000%)","11 (0)","3""MT-ND1","m.3497C>T",3497,"C-T","A64V","+/-","LHON","Reported / Secondary","0.349%
(0.000%)","207 (0)","6""MT-ND1","m.3502T>C",3502,"T-C","S66P","nr/nr","Unspecified suspected mitochondrial disorder","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND1","m.3548T>C",3548,"T-C","I81T","nr/nr","Possible LHON helper (one 14484 patient)","Reported","0.059%
(0.000%)","35 (0)","1""MT-ND1","m.3551C>T",3551,"C-T","A82V","+/-","LHON","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND1","m.3552T>A",3552,"T-A","A82A","+/-","Resistance to high altitude pulmonary edema (HAPE) / matrilineal hypertension","Reported; hg C marker","3.501%
(0.000%)","2079 (0)","1""MT-ND1","m.3571del",3571,"C-del","frameshift","nr/nr","Unspecified suspected mitochondrial disorder","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND1","m.3571C>T",3571,"C-T","L89F","nr/nr","Possible LHON helper mut.","Reported","0.227%
(0.000%)","135 (0)","4""MT-ND1","m.3632C>T",3632,"C-T","S109F","+/-","LHON","Reported","0.000%
(0.000%)","0 (0)","2""MT-ND1","m.3634A>G",3634,"A-G","S110G","+/-","LHON","Reported","0.000%
(0.000%)","0 (0)","2""MT-ND1","m.3635G>A",3635,"G-A","S110N","+/-","LHON","Cfrm [LP]","0.015%
(0.000%)","9 (0)","17""MT-ND1","m.3644T>C",3644,"T-C","V113A","nr/nr","BD-associated","Reported","0.384%
(0.000%)","228 (0)","4""MT-ND1","m.3667T>G",3667,"T-G","W121G","+/-","Peripheral neuropathy of T2 diabetes","Reported","0.002%
(0.000%)","1 (0)","1""MT-ND1","m.3685T>C",3685,"T-C","Y127H","-/+","Leigh Syndrome","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND1","m.3688G>A",3688,"G-A","A128T","+/-","Leigh Syndrome","Reported","0.000%
(0.000%)","0 (0)","2""MT-ND1","m.3697G>A",3697,"G-A","G131S","+/+","MELAS / Leigh Syndrome / LDYT / BSN","Cfrm [LP]","0.000%
(0.000%)","0 (0)","19""MT-ND1","m.3700G>A",3700,"G-A","A132T","+/-","LHON","Cfrm [VUS*]","0.005%
(0.000%)","3 (0)","6""MT-ND1","m.3713T>C",3713,"T-C","V136A","+/-","LHON","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND1","m.3733G>A",3733,"G-A","E143K","+/+","LHON","Cfrm [VUS*]","0.003%
(0.000%)","2 (0)","10""MT-ND1","m.3733G>C",3733,"G-C","E143Q","-/+","LHON","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND1","m.3736G>A",3736,"G-A","V144I","nr/nr","LHON","Reported","0.182%
(0.000%)","108 (0)","2""MT-ND1","m.3745G>A",3745,"G-A","A147T","+/+","LHON / high altitude variant","Reported / Population-dependent","0.185%
(0.000%)","110 (0)","4""MT-ND1","m.3761C>A",3761,"C-A","S152term","-/+","Deafness w relapsing/remitting neurological symptoms","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND1","m.3769C>G",3769,"C-G","L155V","+/-","LHON","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND1","m.3781T>C",3781,"T-C","S159P","+/-","LHON","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND1","m.3796A>G",3796,"A-G","T164A","-/+","Adult-Onset Dystonia","Reported","0.470%
(0.000%)","279 (0)","5""MT-ND1","m.3833T>A",3833,"T-A","L176Q","+/-","PEG","Reported","0.000%
(0.000%)","0 (0)","2""MT-ND1","m.3861A>C",3861,"A-C","W185C","-/+","SNHL + neurodevelopmental delay","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND1","m.3866T>C",3866,"T-C","I187T","nr/nr","LHON + limb claudication","Reported / possibly synergistic","0.274%
(0.000%)","163 (0)","8""MT-ND1","m.3890G>A",3890,"G-A","R195Q","-/+","Progressive Encephalomyopathy / Leigh Syndrome / Optic Atrophy","Cfrm [LP]","0.002%
(0.000%)","1 (0)","8""MT-ND1","m.3902_3908inv",3902,"ACCTTGC-GCAAGGT","DLA-GKV","-/+","EXIT+myalgia / severe LA+cardiac / 3-MGA aciduria / nephropathy+deafness+diabetes","Cfrm [LP]","0.000%
(0.000%)","0 (0)","6""MT-ND1","m.3919T>C",3919,"T-C","S205P","+/-","LHON","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND1","m.3945C>A",3945,"C-A","I213M","nr/nr","Leigh-like phenotype","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND1","m.3946G>A",3946,"G-A","E214K","+/+","MELAS","Reported","0.002%
(0.000%)","1 (0)","9""MT-ND1","m.3949T>C",3949,"T-C","Y215H","-/+","MELAS","Reported","0.002%
(0.000%)","1 (0)","7""MT-ND1","m.3958G>A",3958,"G-A","G218S","+/-","LHON","Reported","0.000%
(0.000%)","0 (0)","3""MT-ND1","m.3959G>A",3959,"G-A","G218D","nr/nr","MELAS","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND1","m.3995A>G",3995,"A-G","N230S","nr/nr","MELAS","Reported","0.030%
(0.000%)","18 (0)","4""MT-ND1","m.4081T>C",4081,"T-C","F259L","+/-","LHON","Reported","0.002%
(0.000%)","1 (0)","1""MT-ND1","m.4115T>C",4115,"T-C","F270S","nr/nr","Possible LHON helper (one 11778 patient)","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND1","m.4123A>T",4123,"A-T","I273F","+/-","LHON","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND1","m.4132G>A",4132,"G-A","A276T","+/-","NAION-associated","Reported","0.013%
(0.000%)","8 (0)","2""MT-ND1","m.4136A>G",4136,"A-G","Y277C","+/-","LHON","Reported - possibly synergistic","0.118%
(0.000%)","70 (0)","13""MT-ND1","m.4142G>A",4142,"G-A","R279Q","-/+","Developmental delay, seizure, hypotonia","Reported","0.000%
(0.000%)","0 (0)","3""MT-ND1","m.4142G>T",4142,"G-T","R279L","-/+","Leigh Syndrome","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND1","m.4160T>C",4160,"T-C","L285P","+/-","LHON / LHON plus","Reported - possibly synergistic","0.002%
(0.000%)","1 (0)","20""MT-ND1","m.4163T>C",4163,"T-C","M286T","+/-","LHON","Reported","0.002%
(0.000%)","1 (0)","1""MT-ND1","m.4171C>A",4171,"C-A","L289M","+/+","LHON / Leigh-like phenotype","Cfrm [VUS*]","0.003%
(0.000%)","2 (0)","17""MT-ND1","m.4175G>A",4175,"G-A","W290term","-/+","EXIT","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND1","m.4215A>G",4215,"A-G","W303W","+/-","Low VO2max response","Reported","0.008%
(0.000%)","5 (0)","1""MT-ND1","m.4216T>C",4216,"T-C","Y304H","+/-","LHON / Insulin Resistance /possible adaptive high altitude variant / miscarriage","Conflicting reports","10.236%
(0.000%)","6079 (0)","51""MT-ND2","m.4491G>A",4491,"G-A","V8I","+/-","High altitude pulmonary edema susceptibility","Reported","1.581%
(0.000%)","939 (0)","1""MT-ND2","m.4516G>A",4516,"G-A","G16D","+/-","Possible LHON modulator","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND2","m.4611del",4611,"A-del","M-Term","nr/nr","Unspecified suspected mitochondrial disorder","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND2","m.4633C>G",4633,"C-G","A55G","+/-","LHON candidate","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND2","m.4640C>A",4640,"C-A","I57M","+/-","LHON / Epilepsy","Reported","0.406%
(0.000%)","241 (0)","9""MT-ND2","m.4648T>C",4648,"T-C","F60S","+/-","PEG","Reported","0.002%
(0.000%)","1 (0)","2""MT-ND2","m.4659G>A",4659,"G-A","A64T","+/-","possible PD risk factor / LHON","Reported","0.168%
(0.000%)","100 (0)","3""MT-ND2","m.4681T>C",4681,"T-C","L71P","-/+","Leigh Syndrome","Reported","0.002%
(0.000%)","1 (0)","4""MT-ND2","m.4769=",4769,"A-A","M100M","+/-","SZ-associated","Reported","2.376%
(0.000%)","1411 (0)","2""MT-ND2","m.4833A>G",4833,"A-G","T122A","+/-","Diabetes helper mutation AD, PD","Reported","0.999%
(0.000%)","593 (0)","4""MT-ND2","m.4852T>A",4852,"T-A","L128Q","+/-","LHON","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND2","m.4883C>T",4883,"C-T","P138P","+/-","Glaucoma","Conflicting reports","4.622%
(0.000%)","2745 (0)","2""MT-ND2","m.4917A>G",4917,"A-G","N150D","+/-","LHON / Insulin Resistance / AMD / NRTI-PN","Reported","4.944%
(0.000%)","2936 (0)","28""MT-ND2","m.4924G>T",4924,"G-T","S152I","nr/nr","Possible LHON helper (one 11778 patient)","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND2","m.4935A>G",4935,"A-G","T156A","-/+","Lipomatosis+EXIT","Reported","0.000%
(0.000%)","0 (0)","3""MT-ND2","m.4944A>G",4944,"A-G","I159V","+/-","High altitude pulmonary edema susceptibility","Reported","0.015%
(0.000%)","9 (0)","1""MT-ND2","m.4959G>A",4959,"G-A","A164T","nr/nr","Possible LHON helper (one 11778 patient)","Reported","0.098%
(0.000%)","58 (0)","1""MT-ND2","m.5001_5002insA",5001,"A-AA","frameshift","-/+","Developmental delay, seizure, cardiomyopathy, lactic acidosis","Reported","0.000%
(0.000%)","0 (0)","3""MT-ND2","m.5095T>C",5095,"T-C","I209T","nr/nr","Proximal muscle weakness and atrophy","Reported","0.030%
(0.000%)","18 (0)","1""MT-ND2","m.5133_5134del",5133,"AA-del","frameshift","nr/nr","Exercise intolerance (EXIT)","Reported","0.000%
(0.000%)","0 (0)","5""MT-ND2","m.5153A>G",5153,"A-G","L228L","nr/nr","Recurrent pregnancy loss","Reported","0.596%
(0.000%)","354 (0)","1""MT-ND2","m.5178C>A",5178,"C-A","L237M","+/+","Longevity / Extraversion / diabetes / AMS protection / blood iron metabolism / correlation with myocardial infarction / atherosclerosis","Reported","4.583%
(0.000%)","2722 (0)","23""MT-ND2","m.5244G>A",5244,"G-A","G259S","-/+","LHON","Reported","0.000%
(0.000%)","0 (0)","8""MT-ND2","m.5367_5385del",5367,"ACCTCAATCACACTACTCC-del","frameshift","nr/nr","Unspecified suspected mitochondrial disorder","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND2","m.5452C>T",5452,"C-T","T328M","+/-","Progressive Encephalomyopathy","Reported","0.035%
(0.000%)","21 (0)","2""MT-ND2","m.5460G>A",5460,"G-A","A331T","+/+","AD / PD / LHON","Conflicting reports","6.754%
(0.000%)","4011 (0)","10""MT-ND2","m.5460G>T",5460,"G-T","A331S","+/+","AD","Reported","0.000%
(0.000%)","0 (0)","5""MT-CO1","m.5911C>T",5911,"C-T","A3V","+/-","Prostate Cancer","Reported","0.438%
(0.000%)","260 (0)","1""MT-CO1","m.5913G>A",5913,"G-A","D4N","+/-","Prostate Cancer / hypertension","Reported","0.892%
(0.000%)","530 (0)","3""MT-CO1","m.5920G>A",5920,"G-A","W6term","-/+","Myoglobinuria / EXIT","Reported","0.000%
(0.000%)","0 (0)","4""MT-CO1","m.5935A>G",5935,"A-G","N11S","+/-","Prostate Cancer","Reported","0.002%
(0.000%)","1 (0)","1""MT-CO1","m.5973G>A",5973,"G-A","A24T","+/-","Prostate Cancer","Reported","0.024%
(0.000%)","14 (0)","1""MT-CO1","m.6020C>A",6020,"C-A","A39A","-/+","Possible association with sepsis","Reported","0.000%
(0.000%)","0 (0)","2""MT-CO1","m.6020_6024del",6020,"CGAGC-del","AELGQ-AGPATerm","-/+","Motor Neuron Disease","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO1","m.6081G>A",6081,"G-A","A60T","+/-","Prostate Cancer","Reported","0.002%
(0.000%)","1 (0)","1""MT-CO1","m.6145G>A",6145,"G-A","W81term","nr/nr","Unspecified suspected mitochondrial disorder","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO1","m.6150G>A",6150,"G-A","V83I","+/-","Prostate Cancer / enriched in POAG cohort","Reported","0.426%
(0.000%)","253 (0)","2""MT-CO1","m.6253T>C",6253,"T-C","M117T","+/-","Prostate Cancer / enriched in POAG cohort","Reported","0.990%
(0.000%)","588 (0)","3""MT-CO1","m.6261G>A",6261,"G-A","A120T","+/-","Prostate Cancer / LHON","Reported","0.726%
(0.000%)","431 (0)","4""MT-CO1","m.6267G>A",6267,"G-A","A122T","+/-","Prostate Cancer","Reported","0.155%
(0.000%)","92 (0)","1""MT-CO1","m.6285G>A",6285,"G-A","V128I","+/-","Prostate Cancer","Reported","0.214%
(0.000%)","127 (0)","1""MT-CO1","m.6307A>G",6307,"A-G","N135S","./+","Asthenozoospermic infertility","Reported","0.003%
(0.000%)","2 (0)","1""MT-CO1","m.6328C>T",6328,"C-T","S142F","+/-","EXIT (Exercise Intolerance)","Reported","0.000%
(0.000%)","0 (0)","2""MT-CO1","m.6340C>T",6340,"C-T","T146I","+/-","Prostate Cancer","Reported","0.165%
(0.000%)","98 (0)","2""MT-CO1","m.6367T>C",6367,"T-C","V155A","-/+","Possible association with sepsis","Reported","0.039%
(0.000%)","23 (0)","1""MT-CO1","m.6459T>C",6459,"T-C","W186R","+/-","Sepsis susceptibility","Reported","0.000%
(0.000%)","0 (0)","2""MT-CO1","m.6474A>G",6474,"A-G","T191A","+/-","Maternally inherited childhood epilepsy and ataxia","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO1","m.6480G>A",6480,"G-A","V193I","+/-","Prostate Cancer / enriched in POAG cohort","Reported","0.254%
(0.000%)","151 (0)","4""MT-CO1","m.6489C>A",6489,"C-A","L196I","-/+","CO1 deficiency with epilepsia partialis continua","Reported","0.157%
(0.000%)","93 (0)","3""MT-CO1","m.6526T>C",6526,"T-C","M208T","nr/nr","Developmental delay, hypotonia, myopathy, failure to thrive","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO1","m.6544A>C",6544,"A-C","N214T","-/+","Possible association with sepsis","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO1","m.6547T>C",6547,"T-C","L215P","-/+","Leigh Syndrome","Reported","0.007%
(0.000%)","4 (0)","3""MT-CO1","m.6579G>A",6579,"G-A","G226term","-/+","Leigh Syndrome","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO1","m.6597C>A",6597,"C-A","Q232K","-/+","MELAS-like syndrome","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO1","m.6649C>T",6649,"C-T","P249L","-/+","Possible association with sepsis","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO1","m.6663A>G",6663,"A-G","I254V","+/-","Prostate Cancer","Reported","0.291%
(0.000%)","173 (0)","3""MT-CO1","m.6698del",6698,"A-del","K-K_frameshift","-/+","Myopathy","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO1","m.6708G>A",6708,"G-A","G269term","-/+","MM & Rhabdomyolysis","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO1","m.6721T>C",6721,"T-C","M273T","-/+","Acquired Idiopathic Sideroblastic Anemia","Reported","0.000%
(0.000%)","0 (0)","2""MT-CO1","m.6742T>C",6742,"T-C","I280T","-/+","Acquired Idiopathic Sideroblastic Anemia","Reported","0.000%
(0.000%)","0 (0)","2""MT-CO1","m.6860A>C",6860,"A-C","K319N","+/-","Dilated Cardiomyopathy","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO1","m.6930G>A",6930,"G-A","G343term","-/+","Multisystem Disorder","Reported","0.000%
(0.000%)","0 (0)","3""MT-CO1","m.6955G>A",6955,"G-A","G351D","+/+","Mild EXIT and MR","Reported","0.002%
(0.000%)","1 (0)","1""MT-CO1","m.6962G>A",6962,"G-A","L353L","+/-","Possible helper variant for 15927A","Reported","2.389%
(0.000%)","1419 (0)","1""MT-CO1","m.7023G>A",7023,"G-A","V374M","-/+","MELAS-like syndrome","Reported","0.002%
(0.000%)","1 (0)","1""MT-CO1","m.7041G>A",7041,"G-A","V380I","+/-","Prostate Cancer","Reported","0.010%
(0.000%)","6 (0)","1""MT-CO1","m.7065G>A",7065,"G-A","A388T","-/+","Possible association with sepsis","Reported","0.000%
(0.000%)","0 (0)","2""MT-CO1","m.7080T>C",7080,"T-C","F393L","+/-","Prostate Cancer","Reported","0.109%
(0.000%)","65 (0)","1""MT-CO1","m.7083A>G",7083,"A-G","I394V","+/-","Prostate Cancer","Reported","0.027%
(0.000%)","16 (0)","1""MT-CO1","m.7158A>G",7158,"A-G","I419V","+/-","Prostate Cancer","Reported","0.072%
(0.000%)","43 (0)","1""MT-CO1","m.7222A>G",7222,"A-G","Y440C","nr/nr","Unspecified suspected mitochondrial disorder","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO1","m.7299A>G",7299,"A-G","M466V","+/-","LHON","Reported","0.145%
(0.000%)","86 (0)","1""MT-CO1","m.7305A>C",7305,"A-C","M468L","+/-","Prostate Cancer","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO1","m.7379G>A",7379,"G-A","L492L","-/+","Possible association with sepsis","Reported","0.039%
(0.000%)","23 (0)","1""MT-CO1","m.7402del",7402,"C-del","frameshift","-/+","Isolated complex IV deficiency","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO1","m.7443A>G",7443,"A-G","term514G","+/-","DEAF","Reported","0.002%
(0.000%)","1 (0)","4""MT-CO1","m.7444G>A",7444,"G-A","term514K","+/-","LHON / SNHL / DEAF modulator","Reported","0.347%
(0.000%)","206 (0)","31""MT-CO1","m.7445A>C",7445,"A-C","term514S","+/-","DEAF","Reported","0.029%
(0.000%)","17 (0)","8""MT-CO1","m.7445A>G",7445,"A-G","term514term","+/+","SNHL","Cfrm [P]","0.002%
(0.000%)","1 (0)","40""MT-CO2","m.7587T>C",7587,"T-C","M1T","-/+","Mitochondrial Encephalomyopathy","Reported","0.000%
(0.000%)","0 (0)","2""MT-CO2","m.7598G>A",7598,"G-A","A5T","-/+","Possible LHON helper variant","Reported","1.074%
(0.000%)","638 (0)","2""MT-CO2","m.7623C>T",7623,"C-T","T13I","+/-","LHON","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO2","m.7630del",7630,"T-del","frameshift","-/+","MELAS","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO2","m.7637G>A",7637,"G-A","E18K","-/+","PD risk factor","Reported","0.003%
(0.000%)","2 (0)","1""MT-CO2","m.7671T>A",7671,"T-A","M29K","-/+","MM","Reported","0.000%
(0.000%)","0 (0)","2""MT-CO2","m.7695T>C",7695,"T-C","L37P","-/+","Cerebellar and pyramidal syndrome with cognitive impairment","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO2","m.7697G>A",7697,"G-A","V38I","+/-","Possible HCM susceptibility, high altitude adaptation","Reported","0.490%
(0.000%)","291 (0)","5""MT-CO2","m.7706G>A",7706,"G-A","A41T","+/+","Alpers-Huttenlocher-like","Reported","0.019%
(0.000%)","11 (0)","2""MT-CO2","m.7749T>C",7749,"T-C","I55T","-/+","Possible association with sepsis","Reported","0.002%
(0.000%)","1 (0)","2""MT-CO2","m.7859G>A",7859,"G-A","D92N","+/-","Progressive Encephalomyopathy","Reported","0.281%
(0.000%)","167 (0)","1""MT-CO2","m.7868C>T",7868,"C-T","L95F","+/-","LHON","Reported - possibly synergistic","0.024%
(0.000%)","14 (0)","1""MT-CO2","m.7877A>C",7877,"A-C","K98Q","+/-","PEG glaucoma","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO2","m.7887G>A",7887,"G-A","G101D","-/+","Cerebellar ataxia + neuropathy + exercise intolerance","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO2","m.7896G>A",7896,"G-A","W104term","-/+","Multisystem Disorder","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO2","m.7943T>C",7943,"T-C","S120P","-/+","Possible association with sepsis","Reported","0.000%
(0.000%)","0 (0)","2""MT-CO2","m.7965T>C",7965,"T-C","F127S","./+","Hepatic failure / COX deficiency","Reported","0.002%
(0.000%)","1 (0)","3""MT-CO2","m.7970G>T",7970,"G-T","E129term","-/+","Encephalopathy","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO2","m.7989T>C",7989,"T-C","L135P","-/+","Rhabdomyolysis","Reported","0.000%
(0.000%)","0 (0)","2""MT-CO2","m.8010T>C",8010,"T-C","V142A","-/+","Developmental delay, ataxia, seizure, hypotonia, lactic acidosis","Reported","0.003%
(0.000%)","2 (0)","1""MT-CO2","m.8021A>G",8021,"A-G","I146V","+/-","Asthenozoospermia","Reported","0.007%
(0.000%)","4 (0)","1""MT-CO2","m.8042_8043del",8042,"AT-del","frameshift","-/+","Lactic Acidosis","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO2","m.8078G>A",8078,"G-A","V165I","+/-","DEAF","Reported","0.047%
(0.000%)","28 (0)","2""MT-CO2","m.8088del",8088,"T-del","frameshift","-/+","Mitochondrial myopathy with complex IV deficiency","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO2","m.8108A>G",8108,"A-G","I175V","+/-","SNHL","Reported","0.125%
(0.000%)","74 (0)","1""MT-CO2","m.8119del",8119,"T-del","frameshift","-/+","Biliary atresia","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO2","m.8156del",8156,"G-del","frameshift","-/+","Multi-system mitochondrial disorder","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO2","m.8241T>G",8241,"T-G","F219C","-/+","MIDD+retinopathy","Conflicting reports","0.000%
(0.000%)","0 (0)","2""MT-CO2","m.8249G>A",8249,"G-A","G222term","+/-","Mitochondrial myopathy","Reported","0.002%
(0.000%)","1 (0)","2""MT-ATP8","m.8381A>G",8381,"A-G","T6A","+/-","MIDD / LVNC cardiomyopathy-assoc.","Reported","0.024%
(0.000%)","14 (0)","2""MT-ATP8","m.8382C>T",8382,"C-T","T6I","nr/nr","Suspected mito disease","Reported","0.015%
(0.000%)","9 (0)","1""MT-ATP8","m.8393C>T",8393,"C-T","P10S","-/+","Reversible brain pseudoatrophy","Reported","0.509%
(0.000%)","302 (0)","2""MT-ATP8","m.8403T>C",8403,"T-C","I13T","+/-","Episodic weakness and progressive neuropathy","Reported","0.005%
(0.000%)","3 (0)","1""MT-ATP8","m.8411A>G",8411,"A-G","M16V","+/-","Severe mitochondrial disorder","Reported","0.003%
(0.000%)","2 (0)","1""MT-ATP8","m.8412T>C",8412,"T-C","M16T","+/-","Possible LHON helper mutation","Reported","0.034%
(0.000%)","20 (0)","1""MT-ATP8","m.8414C>T",8414,"C-T","L17F","+/-","Increased risk of T2DM and high altitude polycythemia (HAPC) in haplogroup D4 / Longevity","Reported","3.842%
(0.000%)","2282 (0)","3""MT-ATP8","m.8418T>C",8418,"T-C","L18P","+/-","Mitochondrial Respiratory Chain Disorder","Reported","0.002%
(0.000%)","1 (0)","1""MT-ATP8","m.8424T>C",8424,"T-C","L20P","nr/nr","Suspected mito disease","Reported","0.000%
(0.000%)","0 (0)","1""MT-ATP8","m.8481C>T",8481,"C-T","P39L","+/-","Tetralogy of Fallot patient","Reported","0.017%
(0.000%)","10 (0)","1""MT-ATP8","m.8490T>C",8490,"T-C","M42T","+/-","Peripheral neuropathy of T2DM","Reported","0.042%
(0.000%)","25 (0)","4""MT-ATP8","m.8519G>A",8519,"G-A","E52K","+/-","Susceptibility to bullous pemphigoid","Reported","0.266%
(0.000%)","158 (0)","1""MT-ATP8/6","m.8527A>G",8527,"A-G","ATP8:K54K ATP6:M1M","+/-","Neuromuscular disorder, possible helper mutation","Reported","0.404%
(0.000%)","240 (0)","1""MT-ATP8/6","m.8528T>C",8528,"T-C","ATP8:W55R ATP6:M1T","+/+","Infantile cardiomyopathy / hyperammonemia","Cfrm [LP]","0.000%
(0.000%)","0 (0)","9""MT-ATP8/6","m.8529G>A",8529,"G-A","ATP8:W55term ATP6:M1M","+/-","Apical HCM","Reported","0.000%
(0.000%)","0 (0)","2""MT-ATP8/6","m.8551T>C",8551,"T-C","ATP8:H62H ATP6:F9L","+/-","Possible LHON helper mutation","Reported","0.030%
(0.000%)","18 (0)","1""MT-ATP8/6","m.8558C>T",8558,"C-T","ATP8:P65S ATP6:A11V","+/-","Possibly LVNC cardiomyopathy-associated","Reported","0.025%
(0.000%)","15 (0)","1""MT-ATP8/6","m.8561C>G",8561,"C-G","ATP8:P66A ATP6:P12R","+/+","Ataxia w neuropathy, DM, SNHL, and hypogonadism","Reported","0.000%
(0.000%)","0 (0)","1""MT-ATP8/6","m.8561C>T",8561,"C-T","ATP8:P66S ATP6:P12L","-/+","Ataxia w psychomotor delay","Reported","0.000%
(0.000%)","0 (0)","1""MT-ATP8/6","m.8572G>A",8572,"G-A","ATP8:term69term ATP6:G16S","+/-","Spinocerebellar ataxia","Reported","0.352%
(0.000%)","209 (0)","1""MT-ATP6","m.8573G>A",8573,"G-A","G16D","+/-","Patient with suspected mitochondrial disease","Reported by paper as Benign","0.104%
(0.000%)","62 (0)","1""MT-ATP6","m.8578C>T",8578,"C-T","P18S","+/-","Spinocerebellar ataxia","Reported","0.051%
(0.000%)","30 (0)","1""MT-ATP6","m.8597T>C",8597,"T-C","I24T","-/+","Leigh Syndrome","Reported","0.029%
(0.000%)","17 (0)","2""MT-ATP6","m.8606C>T",8606,"C-T","P27L","-/+","Possible association with sepsis","Reported","0.000%
(0.000%)","0 (0)","2""MT-ATP6","m.8608C>T",8608,"C-T","P28S","+/-","Patient with suspected mitochondrial disease","Reported","0.002%
(0.000%)","1 (0)","1""MT-ATP6","m.8611_8612insC",8611,"C-CC","frameshift","-/+","Ataxia, microcephaly, developmental delay, intellectual disability","Reported","0.000%
(0.000%)","0 (0)","2""MT-ATP6","m.8612T>C",8612,"T-C","L29P","+/-","Patient with suspected mitochondrial disease","Reported","0.000%
(0.000%)","0 (0)","1""MT-ATP6","m.8618_8619insT",8618,"T-TT","frameshift","-/+","NARP/cognitive decline+abnormal brain MRI+impaired kidney function","Reported","0.000%
(0.000%)","0 (0)","4""MT-ATP6","m.8639T>C",8639,"T-C","I38T","+/-","Possible LHON modulator","Reported","0.025%
(0.000%)","15 (0)","3""MT-ATP6","m.8668T>C",8668,"T-C","W48R","+/-","LHON","Reported","0.061%
(0.000%)","36 (0)","1""MT-ATP6","m.8691A>G",8691,"A-G","K55K","nr/nr","Infantile mito disease w subclinical hypothyroidism","Reported","0.012%
(0.000%)","7 (0)","2""MT-ATP6","m.8719G>A",8719,"G-A","G65term","-/+","Suspected mito disease","Reported","0.000%
(0.000%)","0 (0)","2""MT-ATP6","m.8723G>T",8723,"G-T","R66L","99%/-","Patient with suspected mitochondrial disease","Reported","0.000%
(0.000%)","0 (0)","1""MT-ATP6","m.8741T>G",8741,"T-G","L72R","-/+","MILS protective factor","Reported","0.000%
(0.000%)","0 (0)","1""MT-ATP6","m.8779C>T",8779,"C-T","L85F","+/-","Possible LHON modulator","Reported","0.002%
(0.000%)","1 (0)","1""MT-ATP6","m.8782G>A",8782,"G-A","G86term","-/+","Cerebellar ataxia+diabetes+kidney disease / ataxia+myoclonic epilepsy","Reported","0.000%
(0.000%)","0 (0)","1""MT-ATP6","m.8783G>A",8783,"G-A","G86E","nr/nr","Unspecified suspected mitochondrial disorder","Reported","0.002%
(0.000%)","1 (0)","1""MT-ATP6","m.8794C>T",8794,"C-T","H90Y","+/-","Exercise Endurance / Coronary Atherosclerosis risk","Reported","2.901%
(0.000%)","1723 (0)","2""MT-ATP6","m.8795A>G",8795,"A-G","H90R","-/+","MILS protective factor","Reported","0.000%
(0.000%)","0 (0)","1""MT-ATP6","m.8806C>G",8806,"C-G","P94A","nr/nr","Suspected mito disease","Reported","0.000%
(0.000%)","0 (0)","1""MT-ATP6","m.8812A>G",8812,"A-G","T96A","-/+","Spinocerebellar ataxia","Reported","0.106%
(0.000%)","63 (0)","1""MT-ATP6","m.8821T>G",8821,"T-G","S99A","nr/nr","Possible LHON helper variant","Reported","0.000%
(0.000%)","0 (0)","1""MT-ATP6","m.8836A>G",8836,"A-G","M104V","+/-","LHON","Reported","0.286%
(0.000%)","170 (0)","3""MT-ATP6","m.8839G>C",8839,"G-C","A105P","-/+","NARP syndrome","Reported","0.000%
(0.000%)","0 (0)","3""MT-ATP6","m.8843T>C",8843,"T-C","I106T","+/-","Patient with suspected mitochondrial disease","Reported by paper as Likely Benign","0.333%
(0.000%)","198 (0)","1""MT-ATP6","m.8851T>C",8851,"T-C","W109R","+/+","BSN / Leigh syndrome","Cfrm [VUS*]","0.007%
(0.000%)","4 (0)","9""MT-ATP6","m.8881T>C",8881,"T-C","S119P","nr/nr","Patient with suspected mitochondrial disease","Reported","0.000%
(0.000%)","0 (0)","1""MT-ATP6","m.8890A>G",8890,"A-G","K122E","-/+","Juvenile-onset metabolic syndrome","Reported","0.000%
(0.000%)","0 (0)","1""MT-ATP6","m.8902G>A",8902,"G-A","A126T","nr/nr","Suspected mito disease","Reported","0.013%
(0.000%)","8 (0)","1""MT-ATP6","m.8909T>C",8909,"T-C","F128S","+/-","Recurrent severe kidney disease and multiple systemic dysfunctions","Reported","0.000%
(0.000%)","0 (0)","1""MT-ATP6","m.8921G>A",8921,"G-A","G132D","+/-","Patient with suspected mitochondrial disease","Reported","0.012%
(0.000%)","7 (0)","1""MT-ATP6","m.8932C>T",8932,"C-T","P136S","+/-","Prostate tumor / Neuromuscular disorder","Reported [B*]","0.404%
(0.000%)","240 (0)","3""MT-ATP6","m.8936T>A",8936,"T-A","L137H","-/+","Atypical Leigh syndrome","Reported [VUS*]","0.002%
(0.000%)","1 (0)","1""MT-ATP6","m.8938A>G",8938,"A-G","I138V","+/-","Patient with suspected mitochondrial disease","Reported","0.079%
(0.000%)","47 (0)","1""MT-ATP6","m.8950G>A",8950,"G-A","V142I","+/-","LDYT / Spinocerebellar Ataxia","Reported","0.143%
(0.000%)","85 (0)","4""MT-ATP6","m.8951T>C",8951,"T-C","V142A","nr/nr","Patient with ataxia","Reported","0.015%
(0.000%)","9 (0)","1""MT-ATP6","m.8959G>A",8959,"G-A","E145K","+/+","Developmental delay, intellectual disability, low citrilline","Reported","0.007%
(0.000%)","4 (0)","2""MT-ATP6","m.8969G>A",8969,"G-A","S148N","-/+","Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) / IgG nephropathy","Cfrm [LP]","0.002%
(0.000%)","1 (0)","6""MT-ATP6","m.8969G>C",8969,"G-C","S148T","nr/nr","Suspected mito disease","Reported","0.000%
(0.000%)","0 (0)","1""MT-ATP6","m.8975T>C",8975,"T-C","L150P","nr/nr","Suspected mito disease","Reported","0.035%
(0.000%)","21 (0)","1""MT-ATP6","m.8989G>C",8989,"G-C","A155P","-/+","NARP syndrome","Reported","0.000%
(0.000%)","0 (0)","2""MT-ATP6","m.8993T>C",8993,"T-C","L156P","-/+","NARP / Leigh Disease / MILS / other","Cfrm [P]","0.003%
(0.000%)","2 (0)","49""MT-ATP6","m.8993T>G",8993,"T-G","L156R","+/+","NARP / Leigh Disease / MILS / other","Cfrm [P]","0.010%
(0.000%)","6 (0)","159""MT-ATP6","m.8993TG>CA",8993,"TG-CA","L156P","+/+","Developmental delay & myopathy","Reported","0.000%
(0.000%)","0 (0)","1""MT-ATP6","m.8999T>C",8999,"T-C","V158A","+/-","Patient with suspected mitochondrial disease","Reported","0.013%
(0.000%)","8 (0)","2""MT-ATP6","m.9008C>G",9008,"C-G","T161S","nr/nr","Suspected mito disease","Reported","0.003%
(0.000%)","2 (0)","1""MT-ATP6","m.9010G>A",9010,"G-A","A162T","-/+","Unspecified neurological disorder","Reported","0.045%
(0.000%)","27 (0)","1""MT-ATP6","m.9016A>G",9016,"A-G","I164V","-/+","LHON","Reported","0.022%
(0.000%)","13 (0)","2""MT-ATP6","m.9017T>C",9017,"T-C","I164T","-/+","Unspecified neurological disorder","Reported","0.024%
(0.000%)","14 (0)","1""MT-ATP6","m.9019A>G",9019,"A-G","T165A","nr/nr","Suspected mito disease","Reported","0.000%
(0.000%)","0 (0)","1""MT-ATP6","m.9025G>A",9025,"G-A","G167S","+/-","Motor neuropathy, Leigh-like, colon cancer","Reported","0.069%
(0.000%)","41 (0)","2""MT-ATP6","m.9026G>A",9026,"G-A","G167D","-/+","Spinocerebellar ataxia / patient with suspected mitochondrial disease","Reported [VUS*]","0.005%
(0.000%)","3 (0)","4""MT-ATP6","m.9029A>G",9029,"A-G","H168R","+/+","LHON-like","Reported","0.002%
(0.000%)","1 (0)","4""MT-ATP6","m.9032T>C",9032,"T-C","L169P","-/+","NARP / Complex phenotype with microcephaly, ataxia, hearing loss, lactic acidosis","Reported [VUS*]","0.000%
(0.000%)","0 (0)","4""MT-ATP6","m.9035T>C",9035,"T-C","L170P","+/+","Ataxia syndromes","Cfrm [LP]","0.000%
(0.000%)","0 (0)","6""MT-ATP6","m.9041A>G",9041,"A-G","H172R","-/+","Patient with suspected mitochondrial disease","Reported","0.089%
(0.000%)","53 (0)","1""MT-ATP6","m.9049G>A",9049,"G-A","G175term","nr/nr","Unspecified suspected mitochondrial disorder","Reported","0.000%
(0.000%)","0 (0)","1""MT-ATP6","m.9055G>A",9055,"G-A","A177T","+/-","PD protective factor","Reported [B*]","4.199%
(0.000%)","2494 (0)","2""MT-ATP6","m.9058A>G",9058,"A-G","T178A","+/-","Patients with (1) LVNC cardiomyopathy; (2) autism, intellectual disability, epilepsy","Reported as (1) possible association or as (2) benign","0.056%
(0.000%)","33 (0)","1""MT-ATP6","m.9071C>T",9071,"C-T","S182L","+/-","Potentially functional variant cosegregating with LHON3635A","Reported","0.029%
(0.000%)","17 (0)","1""MT-ATP6","m.9088T>C",9088,"T-C","S188P","-/+","Patient with suspected mitochondrial disease","Reported by paper as Likely Benign","0.039%
(0.000%)","23 (0)","1""MT-ATP6","m.9098T>C",9098,"T-C","I191T","+/-","Predisposition to anti-retroviral mito disease","Reported","0.104%
(0.000%)","62 (0)","1""MT-ATP6","m.9101T>C",9101,"T-C","I192T","+/-","LHON","Reported","0.104%
(0.000%)","62 (0)","9""MT-ATP6","m.9115A>G",9115,"A-G","I197V","+/-","Patient with suspected mitochondrial disease","Reported","0.045%
(0.000%)","27 (0)","1""MT-ATP6","m.9127_9128del",9127,"AT-del","IL-Pterm","-/+","NARP","Reported","0.000%
(0.000%)","0 (0)","1""MT-ATP6","m.9133G>A",9133,"G-A","E203K","+/-","Patient with suspected mitochondrial disease","Reported","0.007%
(0.000%)","4 (0)","1""MT-ATP6","m.9134A>G",9134,"A-G","E203G","nr/nr","Hypotonia, lactic acidosis, HCM, IUGR","Reported","0.000%
(0.000%)","0 (0)","3""MT-ATP6","m.9139G>A",9139,"G-A","A205T","+/-","LHON","Reported - possibly synergistic","0.084%
(0.000%)","50 (0)","1""MT-ATP6","m.9152T>C",9152,"T-C","I209T","-/+","Patient with suspected mitochondrial disease","Reported","0.029%
(0.000%)","17 (0)","1""MT-ATP6","m.9154C>T",9154,"C-T","Q210term","-/+","Peripheral neuropathy ataxia IgA nephropathy","Reported","0.000%
(0.000%)","0 (0)","2""MT-ATP6","m.9155A>G",9155,"A-G","Q210R","-/+","MIDD, renal insufficiency","Cfrm [LP]","0.000%
(0.000%)","0 (0)","4""MT-ATP6","m.9155A>T",9155,"A-T","Q210L","+/+","Developmental delay, intellectual disability, low citrilline","Reported","0.000%
(0.000%)","0 (0)","1""MT-ATP6","m.9166T>C",9166,"T-C","F214L","+/+","EXIT+more / bilateral optic neuropathy","Reported","0.000%
(0.000%)","0 (0)","2""MT-ATP6","m.9176T>C",9176,"T-C","L217P","+/+","FBSN / Leigh Disease / Spinocerebellar Ataxia","Cfrm [P]","0.005%
(0.000%)","3 (0)","35""MT-ATP6","m.9176T>G",9176,"T-G","L217R","+/+","Leigh Disease / Spastic Paraplegia / Spinocerebellar Ataxia","Cfrm [LP]","0.002%
(0.000%)","1 (0)","11""MT-ATP6","m.9185T>C",9185,"T-C","L220P","+/+","Leigh Disease / Ataxia syndromes / NARP-like disease / Episodic weakness and Charcot-Marie-Tooth","Cfrm [P]","0.005%
(0.000%)","3 (0)","36""MT-ATP6","m.9191T>C",9191,"T-C","L222P","-/+","Leigh Disease","Cfrm [LP]","0.000%
(0.000%)","0 (0)","5""MT-ATP6","m.9205_9206del",9205,"TA-del","Ter-M","+/-","Encephalopathy / Seizures / Lacticacidemia","Cfrm [LP]","0.000%
(0.000%)","0 (0)","9""MT-CO3","m.9237G>A",9237,"G-A","V11M","na/na","Mitochondrial Respiratory Chain Disorder","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO3","m.9266G>T",9266,"G-T","G20G","-/+","Possible association with sepsis","Reported","0.002%
(0.000%)","1 (0)","2""MT-CO3","m.9267G>C",9267,"G-C","A21P","-/+","MIDD","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO3","m.9331T>C",9331,"T-C","L42P","+/-","Failure to thrive with metabolic acidosis, cognitive impairment, optic atrophy","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO3","m.9379G>A",9379,"G-A","W58term","-/+","MM w lactic acidosis","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO3","m.9387G>A",9387,"G-A","V61M","-/+","Asthenozoospermia","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO3","m.9399A>G",9399,"A-G","S65G","nr/nr","Patient with epilepsy, myopathy, hypoacusis, psychiatric disorders","Reported","0.002%
(0.000%)","1 (0)","1""MT-CO3","m.9403C>A",9403,"C-A","T66K","-/+","Possible association with sepsis","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO3","m.9415A>G",9415,"A-G","H70R","-/+","Possible association with sepsis","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO3","m.9438G>A",9438,"G-A","G78S","+/-","LHON / gout","Conflicting reports","1.010%
(0.000%)","600 (0)","14""MT-CO3","m.9444C>T",9444,"C-T","R80W","+/-","Possible LHON helper mutation","Reported","0.002%
(0.000%)","1 (0)","1""MT-CO3","m.9478T>C",9478,"T-C","V91A","-/+","Leigh Disease","Reported","0.037%
(0.000%)","22 (0)","3""MT-CO3","m.9480_9494del",9480,"TTTTTCTTCGCAGGA-del","FFFAG-del","-/+","Myoglobinuria","Reported","0.000%
(0.000%)","0 (0)","5""MT-CO3","m.9487_9501del",9487,"TCGCAGGATTTTTCT-del","FFAGFF-del","-/+","Myoglobinuria","Reported (alt loc)","0.000%
(0.000%)","0 (0)","1""MT-CO3","m.9490C>T",9490,"C-T","A95V","+/-","Gout","Reported","0.040%
(0.000%)","24 (0)","1""MT-CO3","m.9537_9538insC",9537,"C-CC","frameshift","+/-","Leigh Disease","Reported","0.000%
(0.000%)","0 (0)","2""MT-CO3","m.9544G>A",9544,"G-A","G113E","nr/nr","Sporadic bilateral optic neuropathy","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO3","m.9559del",9559,"C-del","frameshift","-/+","Rhabdomyolysis","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO3","m.9660A>C",9660,"A-C","M152L","+/-","LHON","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO3","m.9738G>T",9738,"G-T","A178S","+/-","LHON","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO3","m.9789T>C",9789,"T-C","S195P","-/+","Myopathy","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO3","m.9804G>A",9804,"G-A","A200T","+/+","LHON / MS","Reported","0.300%
(0.000%)","178 (0)","13""MT-CO3","m.9856T>C",9856,"T-C","I217T","+/-","LVNC cardiomyopathy / gout","Reported","0.029%
(0.000%)","17 (0)","2""MT-CO3","m.9861T>C",9861,"T-C","F219L","+/-","AD","Reported","0.207%
(0.000%)","123 (0)","1""MT-CO3","m.9921G>A",9921,"G-A","A239T","+/-","Possible LHON helper mutation","Reported","0.104%
(0.000%)","62 (0)","1""MT-CO3","m.9952G>A",9952,"G-A","W249term","-/+","Mitochondrial Encephalopathy","Reported","0.000%
(0.000%)","0 (0)","1""MT-CO3","m.9957T>C",9957,"T-C","F251L","-/+","PEM / MELAS / NAION / HCM / gout","Reported","0.081%
(0.000%)","48 (0)","9""MT-CO3","m.9966G>A",9966,"G-A","V254I","nr/nr","LHON possible helper variant","Reported","0.653%
(0.000%)","388 (0)","1""MT-CO3","m.9972A>C",9972,"A-C","I256L","-/+","EXIT & APS2 - possible link","Reported","0.003%
(0.000%)","2 (0)","1""MT-CO3","m.9984G>A",9984,"G-A","G260term","nr/nr","Suspected mito disease","Reported","0.000%
(0.000%)","0 (0)","2""MT-ND3","m.10086A>G",10086,"A-G","N10D","+/-","Hypertensive end-stage renal disease","Reported","0.766%
(0.000%)","455 (0)","4""MT-ND3","m.10134C>A",10134,"C-A","Q26K","-/+","Leigh Disease","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND3","m.10142C>T",10142,"C-T","N28N","nr/nr","Recurrent pregnancy loss","Reported","1.164%
(0.000%)","691 (0)","1""MT-ND3","m.10158T>C",10158,"T-C","S34P","+/+","Leigh Disease / MELAS","Cfrm [P]","0.000%
(0.000%)","0 (0)","33""MT-ND3","m.10189T>C",10189,"T-C","M44T","-/+","Behavior alteration with dilated cardiomyopathy","Reported","0.002%
(0.000%)","1 (0)","1""MT-ND3","m.10191T>C",10191,"T-C","S45P","-/+","Leigh Disease / Leigh-like Disease / ESOC","Cfrm [P]","0.000%
(0.000%)","0 (0)","28""MT-ND3","m.10197G>A",10197,"G-A","A47T","+/+","Leigh Disease / Dystonia / Stroke / LDYT","Cfrm [P]","0.007%
(0.000%)","4 (0)","24""MT-ND3","m.10237T>C",10237,"T-C","I60T","+/-","LHON","Reported","0.163%
(0.000%)","97 (0)","5""MT-ND3","m.10254G>A",10254,"G-A","D66N","-/+","Leigh Disease","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND3","m.10350C>A",10350,"C-A","L98M","+/-","LHON","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND3","m.10397A>G",10397,"A-G","W113W","+/-","Low VO2max response","Reported","0.776%
(0.000%)","461 (0)","1""MT-ND3","m.10398=",10398,"A-A","T114T","+/-","Invasive Breast Cancer risk factor AD PD BD lithium response Type 2 DM","Reported; lineage N marker except hg IJK","57.428%
(0.000%)","34106 (0)","21""MT-ND3","m.10398A>G",10398,"A-G","T114A","+/-","PD protective factor / longevity / altered cell pH / metabolic syndrome / breast cancer risk / Leigh Syndrome risk / ADHD / cognitive decline / SCA2 age of onset / Fuchs endothelial corneal dystrophy","Reported; lineage L & M marker, also hg IJK","42.560%
(0.000%)","25276 (0)","39""MT-ND4L","m.10543A>G",10543,"A-G","H25R","-/+","LHON","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND4L","m.10591T>G",10591,"T-G","F41C","-/+","LHON","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND4L","m.10609T>C",10609,"T-C","M47T","nr/nr","Type 2 diabetes patients with underlying 3243G / LHON patient with 10663C","Reported","2.346%
(0.000%)","1393 (0)","2""MT-ND4L","m.10652T>C",10652,"T-C","I61I","-/+","BD / MDD-associated","Reported","0.096%
(0.000%)","57 (0)","1""MT-ND4L","m.10663T>C",10663,"T-C","V65A","+/-","LHON","Cfrm [LP]","0.003%
(0.000%)","2 (0)","16""MT-ND4L","m.10676C>G",10676,"C-G","C69W","nr/nr","Type 2 cataract patients with underlying 3243G","Reported","0.002%
(0.000%)","1 (0)","1""MT-ND4L","m.10680G>A",10680,"G-A","A71T","+/-","LHON / synergistic combo 10680A + 12033G + 14258A","Reported / possibly synergistic","0.029%
(0.000%)","17 (0)","5""MT-ND4","m.11042T>C",11042,"T-C","Y95H","-/+","Biliary atresia","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND4","m.11048del",11048,"T-del","frameshift","-/+","Biliary atresia","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND4","m.11084A>G",11084,"A-G","T109A","+/+","AD, PD MELAS","Conflicting reports","0.375%
(0.000%)","223 (0)","7""MT-ND4","m.11150G>A",11150,"G-A","A131T","+/-","Found in a Multiple Sclerosis patient","Reported","0.248%
(0.000%)","147 (0)","1""MT-ND4","m.11232T>C",11232,"T-C","L158P","-/+","CPEO","Reported","0.000%
(0.000%)","0 (0)","5""MT-ND4","m.11240C>T",11240,"C-T","L161F","-/+","Leigh Syndrome","Reported","0.000%
(0.000%)","0 (0)","2""MT-ND4","m.11250T>C",11250,"T-C","L164P","+/-","Low VO2max response","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND4","m.11251A>G",11251,"A-G","L164L","nr/nr","Reduced risk of PD","Reported","9.611%
(0.000%)","5708 (0)","2""MT-ND4","m.11253T>C",11253,"T-C","I165T","+/-","LHON PD","Reported","0.514%
(0.000%)","305 (0)","9""MT-ND4","m.11365T>C",11365,"T-C","A202A","+/-","found in HCM patient","Reported","0.200%
(0.000%)","119 (0)","1""MT-ND4","m.11375A>C",11375,"A-C","K206Q","+/-","found in sCJD patient","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND4","m.11406T>A",11406,"T-A","L216H","-/+","MELAS","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND4","m.11467A>G",11467,"A-G","L236L","+/-","Altered brain pH / sCJD patients","Reported","12.600%
(0.000%)","7483 (0)","3""MT-ND4","m.11470A>C",11470,"A-C","K237N","-/+","MELAS","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND4","m.11519A>C",11519,"A-C","T254P","+/-","ND4 mutation set found in a Multiple Sclerosis patient","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND4","m.11523A>C",11523,"A-C","K255T","+/-","ND4 mutation set found in a Multiple Sclerosis patient","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND4","m.11527C>T",11527,"C-T","H256H","+/-","ND4 mutation set found in a Multiple Sclerosis patient","Reported","0.042%
(0.000%)","25 (0)","1""MT-ND4","m.11621_11622del",11621,"TA-del","frameshift","-/+","CPEO, exercise intolerance","Reported","0.000%
(0.000%)","0 (0)","2""MT-ND4","m.11696G>A",11696,"G-A","V313I","+/+","LHON / LDYT / DEAF / hypertension helper mut.","Reported / possibly synergistic","0.615%
(0.000%)","365 (0)","18""MT-ND4","m.11777C>A",11777,"C-A","R340S","-/+","Leigh Disease","Cfrm [LP]","0.000%
(0.000%)","0 (0)","12""MT-ND4","m.11778G>A",11778,"G-A","R340H","+/+","LHON / Progressive Dystonia","Cfrm [P]","0.315%
(0.000%)","187 (0)","408""MT-ND4","m.11832G>A",11832,"G-A","W358term","-/+","EXIT / oncocytoma","Reported","0.000%
(0.000%)","0 (0)","6""MT-ND4","m.11874C>A",11874,"C-A","T372N","+/-","LHON","Reported","0.000%
(0.000%)","0 (0)","2""MT-ND4","m.11919C>T",11919,"C-T","S387F","+/-","Thyroid Cancer Cell Line","Reported","0.002%
(0.000%)","1 (0)","2""MT-ND4","m.11984T>C",11984,"T-C","Y409H","+/-","Leigh Syndrome","Reported","0.108%
(0.000%)","64 (0)","1""MT-ND4","m.11994C>T",11994,"C-T","T412I","+/-","Oligoasthenoteratozoospermia (OAT)","Conflicting reports","0.000%
(0.000%)","0 (0)","3""MT-ND4","m.12015T>C",12015,"T-C","L419P","-/+","Atypical MELAS","Reported","0.005%
(0.000%)","3 (0)","2""MT-ND4","m.12026A>G",12026,"A-G","I423V","+/-","DM","Reported","0.446%
(0.000%)","265 (0)","4""MT-ND4","m.12027T>C",12027,"T-C","I423T","nr/nr","SZ-associated","Reported","0.003%
(0.000%)","2 (0)","2""MT-ND4","m.12033A>G",12033,"A-G","N425S","+/-","LHON synergistic combo 10680A + 12033G + 14258A","Reported: individually neutral variants causing LHON in combination","0.037%
(0.000%)","22 (0)","1""MT-ND4","m.12063C>T",12063,"C-T","T435I","nr/nr","Recurrent pregnancy loss","Reported","0.069%
(0.000%)","41 (0)","1""MT-ND5","m.12338T>C",12338,"T-C","M1T","+/-","DEAF1555 increased penetrance / LHON / MIDD","Conflicting reports","0.335%
(0.000%)","199 (0)","12""MT-ND5","m.12350C>A",12350,"C-A","T5N","-/+","SNHL + neurodevelopmental delay","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND5","m.12361A>G",12361,"A-G","T9A","+/-","Non-alcoholic fatty liver disease","Reported","0.589%
(0.000%)","350 (0)","2""MT-ND5","m.12372G>A",12372,"G-A","L12L","+/-","Altered brain pH / sCJD patients","Reported","13.531%
(0.000%)","8036 (0)","3""MT-ND5","m.12397A>G",12397,"A-G","T21A","+/-","PD, early onset","Reported","0.625%
(0.000%)","371 (0)","3""MT-ND5","m.12414del",12414,"T-del","frameshift","nr/nr","EXIT","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND5","m.12425del",12425,"A-del","frameshift","-/+","Mitochondrial myopathy & renal failure","Reported","0.005%
(0.000%)","3 (0)","1""MT-ND5","m.12477T>C",12477,"T-C","S47S","+/-","Possible HCM susceptibility","Reported","0.509%
(0.000%)","302 (0)","1""MT-ND5","m.12622G>A",12622,"G-A","V96I","+/+","Leigh Disease","Conflicting reports","0.017%
(0.000%)","10 (0)","3""MT-ND5","m.12631T>A",12631,"T-A","S99T","+/-","found in 2 sCJD patients","Reported","0.000%
(0.000%)","0 (0)","2""MT-ND5","m.12634A>G",12634,"A-G","I100V","+/+","Thyroid Cancer Cell Line","Reported","0.399%
(0.000%)","237 (0)","3""MT-ND5","m.12662A>G",12662,"A-G","N109S","nr/nr","Recurrent pregnancy loss","Reported","0.133%
(0.000%)","79 (0)","1""MT-ND5","m.12686T>A",12686,"T-A","F117Y","+/-","Dilated Cardiomyopathy","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND5","m.12705C>T",12705,"C-T","I123I","nr/nr","Possible protective factor for normal tension glaucoma","Reported","39.979%
(0.000%)","23743 (0)","1""MT-ND5","m.12706T>C",12706,"T-C","F124L","-/+","Leigh Disease","Cfrm [LP]","0.000%
(0.000%)","0 (0)","13""MT-ND5","m.12770A>G",12770,"A-G","E145G","-/+","MELAS","Reported","0.002%
(0.000%)","1 (0)","5""MT-ND5","m.12778G>C",12778,"G-C","G148R","+/-","Dilated Cardiomyopathy","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND5","m.12782T>G",12782,"T-G","I149S","-/+","LHON","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND5","m.12811T>C",12811,"T-C","Y159H","+/-","Possible LHON factor","Reported","1.135%
(0.000%)","674 (0)","11""MT-ND5","m.12848C>T",12848,"C-T","A171V","-/+","LHON","Reported","0.000%
(0.000%)","0 (0)","4""MT-ND5","m.12858C>A",12858,"C-A","Y174term","nr/nr","Unspecified suspected mitochondrial disorder","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND5","m.12955A>G",12955,"A-G","N207D","-/+","EXIT and developmental delay","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND5","m.13042G>A",13042,"G-A","A236T","-/+","Optic neuropathy/ retinopathy/ LD","Cfrm [LP]","0.003%
(0.000%)","2 (0)","8""MT-ND5","m.13045A>C",13045,"A-C","M237L","-/+","MELAS / LHON / Leigh overlap syndrome","Reported","0.002%
(0.000%)","1 (0)","4""MT-ND5","m.13046T>C",13046,"T-C","M237T","-/+","LHON/MELAS overlap syndrome","Reported","0.000%
(0.000%)","0 (0)","3""MT-ND5","m.13051G>A",13051,"G-A","G239S","+/-","LHON","Cfrm","0.000%
(0.000%)","0 (0)","4""MT-ND5","m.13063G>A",13063,"G-A","V243I","-/+","Adult-onset Encephalopathy / Ataxia","Reported","0.003%
(0.000%)","2 (0)","4""MT-ND5","m.13084A>T",13084,"A-T","S250C","-/+","MELAS / Leigh Disease","Reported","0.000%
(0.000%)","0 (0)","5""MT-ND5","m.13091T>C",13091,"T-C","M252T","-/+","MELAS+Migraine","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND5","m.13094T>C",13094,"T-C","V253A","+/+","Ataxia+PEO / MELAS, LD, LHON, myoclonus, fatigue","Cfrm [P]","0.002%
(0.000%)","1 (0)","11""MT-ND5","m.13135G>A",13135,"G-A","A267T","+/-","Possible HCM susceptibility","Reported","0.968%
(0.000%)","575 (0)","2""MT-ND5","m.13138G>A",13138,"G-A","E268K","+/-","Possible LHON modulator","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND5","m.13204G>A",13204,"G-A","V290I","+/-","Peripheral neuropathy of T2 diabetes","Reported","0.071%
(0.000%)","42 (0)","4""MT-ND5","m.13271T>C",13271,"T-C","L312P","-/+","Exercise intolerance (EXIT)","Reported","0.002%
(0.000%)","1 (0)","2""MT-ND5","m.13276A>G",13276,"A-G","M314V","+/-","MIDD+retinopathy","Conflicting reports","2.822%
(0.000%)","1676 (0)","2""MT-ND5","m.13340T>C",13340,"T-C","F335S","+/-","LHON","Reported","0.002%
(0.000%)","1 (0)","1""MT-ND5","m.13345G>A",13345,"G-A","A337T","+/-","LHON","Reported","0.000%
(0.000%)","0 (0)","2""MT-ND5","m.13376T>C",13376,"T-C","I347T","+/-","MELAS w medial temporal lobe atrophy","Reported","0.002%
(0.000%)","1 (0)","2""MT-ND5","m.13379A>C",13379,"A-C","H348P","+/-","LHON","Reported [VUS*]","0.000%
(0.000%)","0 (0)","1""MT-ND5","m.13379A>G",13379,"A-G","H348R","+/-","LHON","Cfrm [VUS*]","0.000%
(0.000%)","0 (0)","2""MT-ND5","m.13511A>T",13511,"A-T","K392M","-/+","Leigh-like syndrome","Reported","0.000%
(0.000%)","0 (0)","3""MT-ND5","m.13513G>A",13513,"G-A","D393N","-/+","Leigh Disease / MELAS / LHON-MELAS Overlap Syndrome / negative association w Carotid Atherosclerosis","Cfrm [P]","0.002%
(0.000%)","1 (0)","52""MT-ND5","m.13514A>G",13514,"A-G","D393G","-/+","Leigh Disease / MELAS / Ca2+ downregulation","Cfrm [LP]","0.000%
(0.000%)","0 (0)","16""MT-ND5","m.13528A>G",13528,"A-G","T398A","+/-","LHON-like, LHON, MELAS","Reported","0.121%
(0.000%)","72 (0)","6""MT-ND5","m.13580C>G",13580,"C-G","A415G","-/+","Thyroid Cancer","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND5","m.13590G>A",13590,"G-A","L418L","nr/nr","Possible protective factor for high altitude sickness","Reported","5.535%
(0.000%)","3287 (0)","1""MT-ND5","m.13637A>G",13637,"A-G","Q434R","+/-","Possible LHON factor","Reported","0.980%
(0.000%)","582 (0)","5""MT-ND5","m.13702C>G",13702,"C-G","R456G","nr/nr","Possible LHON helper (one 14484 patient)","Reported","0.029%
(0.000%)","17 (0)","1""MT-ND5","m.13707G>A",13707,"G-A","L457L","+/-","Low VO2max response","Reported","0.047%
(0.000%)","28 (0)","1""MT-ND5","m.13708G>A",13708,"G-A","A458T","+/+","LHON / Increased MS risk / higher freq in PD-ADS","Conflicting reports","7.390%
(0.000%)","4389 (0)","53""MT-ND5","m.13712C>T",13712,"C-T","A459V","nr/nr","Possible LHON helper (one 11778 patient)","Reported","0.017%
(0.000%)","10 (0)","1""MT-ND5","m.13730G>A",13730,"G-A","G465E","-/+","LHON","Reported","0.000%
(0.000%)","0 (0)","9""MT-ND5","m.13759G>A",13759,"G-A","A475T","+/-","Possible LHON factor","Reported","3.398%
(0.000%)","2018 (0)","1""MT-ND5","m.13831C>A",13831,"C-A","L499M","-/+","Thyroid Cancer Cell Line","Reported","0.005%
(0.000%)","3 (0)","2""MT-ND5","m.13849A>C",13849,"A-C","N505H","+/-","MELAS","Reported - possibly secondary","0.002%
(0.000%)","1 (0)","2""MT-ND5","m.13967C>T",13967,"C-T","T544M","+/-","Possible LHON factor","Reported","0.305%
(0.000%)","181 (0)","4""MT-ND5","m.14002A>G",14002,"A-G","T556A","+/-","High altitude pulmonary edema susceptibility","Reported","0.234%
(0.000%)","139 (0)","1""MT-ND5","m.14063T>C",14063,"T-C","I576T","+/-","Potentially functional variant cosegregating with LHON3635A","Reported","0.040%
(0.000%)","24 (0)","2""MT-ND5","m.14091A>T",14091,"A-T","K585N","-/+","Developmental delay, seizure, hearing loss, diabetes","Reported","0.000%
(0.000%)","0 (0)","2""MT-ND6","m.14163C>T",14163,"C-T","A171T","+/-","Possible deafness factor","Conflicting reports","0.022%
(0.000%)","13 (0)","3""MT-ND6","m.14179A>G",14179,"A-G","Y165Y","nr/nr","Recurrent pregnancy loss","Reported","0.495%
(0.000%)","294 (0)","1""MT-ND6","m.14258G>A",14258,"G-A","P139L","+/-","LHON synergistic combo 10680A + 12033G + 14258A also combo 14258A + 14582G","Reported: individually neutral variants causing LHON in combination","0.052%
(0.000%)","31 (0)","1""MT-ND6","m.14263C>T",14263,"C-T","E137E","nr/nr","Recurrent pregnancy loss","Reported","0.010%
(0.000%)","6 (0)","1""MT-ND6","m.14279G>A",14279,"G-A","S132L","+/-","LHON","Reported","0.012%
(0.000%)","7 (0)","7""MT-ND6","m.14319T>C",14319,"T-C","N119D","+/-","PD, early onset","Reported","0.128%
(0.000%)","76 (0)","3""MT-ND6","m.14325T>C",14325,"T-C","N117D","+/-","LHON","Reported","0.093%
(0.000%)","55 (0)","4""MT-ND6","m.14340C>T",14340,"C-T","V112M","+/-","SNHL","Reported","0.035%
(0.000%)","21 (0)","2""MT-ND6","m.14342C>A",14342,"C-A","G111V","-/+","Possible association with sepsis","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND6","m.14351T>C",14351,"T-C","E108G","-/+","SNHL + neurodevelopmental delay","Reported","0.003%
(0.000%)","2 (0)","1""MT-ND6","m.14430A>G",14430,"A-G","W82R","+/-","Thyroid Cancer / Leigh Syndrome","Reported","0.000%
(0.000%)","0 (0)","2""MT-ND6","m.14439G>A",14439,"G-A","P79S","+/-","Mitochondrial Respiratory Chain Disorder","Reported","0.000%
(0.000%)","0 (0)","3""MT-ND6","m.14441T>C",14441,"T-C","Y78C","nr/nr","Leigh-like phenotype","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND6","m.14453G>A",14453,"G-A","A74V","-/+","MELAS / Leigh Disease","Cfrm [LP]","0.000%
(0.000%)","0 (0)","10""MT-ND6","m.14459G>A",14459,"G-A","A72V","+/+","LDYT / Leigh Disease / dystonia / carotid atherosclerosis risk","Cfrm [P]","0.005%
(0.000%)","3 (0)","44""MT-ND6","m.14465G>A",14465,"G-A","T70I","-/+","LHON / various supected mitochondrial disease","Reported","0.000%
(0.000%)","0 (0)","2""MT-ND6","m.14482C>A",14482,"C-A","M64I","+/+","LHON","Cfrm [LP]","0.003%
(0.000%)","2 (0)","14""MT-ND6","m.14482C>G",14482,"C-G","M64I","+/+","LHON","Cfrm [LP]","0.000%
(0.000%)","0 (0)","8""MT-ND6","m.14484T>C",14484,"T-C","M64V","+/+","LHON","Cfrm [P]","0.114%
(0.000%)","68 (0)","259""MT-ND6","m.14487T>C",14487,"T-C","M63V","-/+","Dystonia / Leigh Disease / ataxia / ptosis / epilepsy","Cfrm [P]","0.000%
(0.000%)","0 (0)","37""MT-ND6","m.14495A>G",14495,"A-G","L60S","-/+","LHON","Cfrm [LP]","0.003%
(0.000%)","2 (0)","12""MT-ND6","m.14498T>C",14498,"T-C","Y59C","+/+","LHON","Reported","0.000%
(0.000%)","0 (0)","5""MT-ND6","m.14502T>C",14502,"T-C","I58V","+/-","LHON","Reported - possibly synergistic","0.354%
(0.000%)","210 (0)","10""MT-ND6","m.14512_14513del",14512,"TA-del","frameshift","-/+","EXIT w mild myopathy & hyperCKaemia","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND6","m.14535_14536insC",14535,"C-CC","frameshift","nr/nr","DMDF","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND6","m.14538A>G",14538,"A-G","F46L","+/-","LHON","Reported","0.000%
(0.000%)","0 (0)","1""MT-ND6","m.14568C>T",14568,"C-T","G36S","+/-","LHON","Cfrm [LP]","0.010%
(0.000%)","6 (0)","11""MT-ND6","m.14577T>C",14577,"T-C","I33V","-/+","MIDM","Reported","0.729%
(0.000%)","433 (0)","1""MT-ND6","m.14582A>G",14582,"A-G","V31A","+/-","LHON synergistic combo 14258A + 14582G","Reported: individually neutral variants causing LHON in combination","0.584%
(0.000%)","347 (0)","1""MT-ND6","m.14596A>T",14596,"A-T","I26M","+/-","LHON","Reported","0.000%
(0.000%)","0 (0)","6""MT-ND6","m.14597A>G",14597,"A-G","I26T","-/+","LHON / Leigh Syndrome","Reported","0.000%
(0.000%)","0 (0)","2""MT-ND6","m.14600G>A",14600,"G-A","P25L","+/+","Leigh Disease w/optic atrophy / ASD mouse model","Reported","0.000%
(0.000%)","0 (0)","4""MT-ND6","m.14668C>T",14668,"C-T","M2M","+/-","Depressive Disorder associated","Reported","4.007%
(0.000%)","2380 (0)","1""MT-CYB","m.14783T>C",14783,"T-C","L13L","nr/nr","Possible role in high altitude sickness","Reported","20.426%
(0.000%)","12131 (0)","1""MT-CYB","m.14787_14790del",14787,"TTAA-del","frameshift","-/+","PD / MELAS","Reported","0.000%
(0.000%)","0 (0)","1""MT-CYB","m.14797A>G",14797,"A-G","S17S","+/-","Low VO2max response","Reported","0.012%
(0.000%)","7 (0)","1""MT-CYB","m.14831G>A",14831,"G-A","A29T","+/-","LHON","Reported","0.194%
(0.000%)","115 (0)","3""MT-CYB","m.14841A>G",14841,"A-G","N32S","-/+","LHON helper mut.","Reported","0.035%
(0.000%)","21 (0)","1""MT-CYB","m.14846G>A",14846,"G-A","G34S","-/+","EXIT / possibly antiatherogenic, poss. myocardial infarction association","Reported","0.000%
(0.000%)","0 (0)","9""MT-CYB","m.14849T>C",14849,"T-C","S35P","-/+","EXIT / Septo-Optic Dysplasia","Cfrm [VUS*]","0.000%
(0.000%)","0 (0)","3""MT-CYB","m.14864T>C",14864,"T-C","C40R","-/+","MELAS","Reported","0.002%
(0.000%)","1 (0)","1""MT-CYB","m.14894T>C",14894,"T-C","F50L","nr/nr","LHON","Reported","0.015%
(0.000%)","9 (0)","1""MT-CYB","m.14970A>G",14970,"A-G","Y75C","nr/nr","LHON","Reported","0.012%
(0.000%)","7 (0)","1""MT-CYB","m.15024G>A",15024,"G-A","C93Y","+/-","Possible DEAF modifier","Reported","0.061%
(0.000%)","36 (0)","1""MT-CYB","m.15043G>A",15043,"G-A","G99G","+/-","MDD-associated / possible factor in high altitude sickness","Reported","22.806%
(0.000%)","13544 (0)","3""MT-CYB","m.15059G>A",15059,"G-A","G105term","-/+","MM / carotid atherosclerosis risk / essential hypertension","Reported","0.000%
(0.000%)","0 (0)","7""MT-CYB","m.15060G>A",15060,"G-A","G105E","+/-","Mitochondrial Respiratory Chain Disorder","Reported","0.000%
(0.000%)","0 (0)","1""MT-CYB","m.15077G>A",15077,"G-A","E111K","+/-","DEAF / LHON","Reported","0.222%
(0.000%)","132 (0)","3""MT-CYB","m.15084G>A",15084,"G-A","W113term","-/+","EXIT","Reported","0.000%
(0.000%)","0 (0)","2""MT-CYB","m.15092G>A",15092,"G-A","G116S","-/+","MELAS","Reported","0.000%
(0.000%)","0 (0)","1""MT-CYB","m.15150G>A",15150,"G-A","W135term","-/+","EXIT","Reported","0.000%
(0.000%)","0 (0)","1""MT-CYB","m.15153G>A",15153,"G-A","G136D","-/+","Suspected mito disease","Reported","0.010%
(0.000%)","6 (0)","1""MT-CYB","m.15158A>G",15158,"A-G","M138V","-/+","Suspected mito disease","Reported","0.000%
(0.000%)","0 (0)","1""MT-CYB","m.15168G>A",15168,"G-A","W141term","-/+","EXIT","Reported","0.000%
(0.000%)","0 (0)","2""MT-CYB","m.15170G>A",15170,"G-A","G142term","-/+","EXIT","Reported","0.000%
(0.000%)","0 (0)","1""MT-CYB","m.15197T>C",15197,"T-C","S151P","-/+","EXIT","Reported","0.000%
(0.000%)","0 (0)","2""MT-CYB","m.15200G>T",15200,"G-T","A152S","-/+","Possible factor in sepsis","Reported","0.000%
(0.000%)","0 (0)","1""MT-CYB","m.15209T>C",15209,"T-C","Y155H","+/-","Prader-Willi syndrome","Reported","0.013%
(0.000%)","8 (0)","1""MT-CYB","m.15218A>G",15218,"A-G","T158A","+/-","Possible LHON modulator","Reported","1.783%
(0.000%)","1059 (0)","1""MT-CYB","m.15234G>A",15234,"G-A","W163term","nr/nr","Leigh stroke-like leukodystrophy","Reported","0.000%
(0.000%)","0 (0)","1""MT-CYB","m.15236A>G",15236,"A-G","I164V","nr/nr","Possible LHON helper (one 11778 patient)","Reported","1.456%
(0.000%)","865 (0)","1""MT-CYB","m.15237T>C",15237,"T-C","I164T","+/-","Potentially functional variant cosegregating with LHON3635A","Reported","0.010%
(0.000%)","6 (0)","1""MT-CYB","m.15242G>A",15242,"G-A","G166term","-/+","Mitochondrial Encephalomyopathy","Reported","0.000%
(0.000%)","0 (0)","2""MT-CYB","m.15243G>A",15243,"G-A","G166E","-/+","HCM","Reported","0.000%
(0.000%)","0 (0)","2""MT-CYB","m.15246G>A",15246,"G-A","G167D","-/+","Mitochondrial Respiratory Chain Disorder","Reported","0.000%
(0.000%)","0 (0)","1""MT-CYB","m.15256A>G",15256,"A-G","V170V","+/-","Peripheral neuropathy of T2 diabetes","Reported","0.007%
(0.000%)","4 (0)","1""MT-CYB","m.15257G>A",15257,"G-A","D171N","+/-","LHON","Conflicting reports","1.425%
(0.000%)","846 (0)","46""MT-CYB","m.15287T>C",15287,"T-C","F181L","-/+","Possible DEAF helper mut.","Reported; hg I6a & H10c marker","0.185%
(0.000%)","110 (0)","2""MT-CYB","m.15301G>A",15301,"G-A","L185L","nr/nr","Possible factor in high altitude sickness, LHON","Reported","27.340%
(0.000%)","16237 (0)","2""MT-CYB","m.15324C>G",15324,"C-G","A193G","nr/nr","Possible LHON helper (one 11778 patient)","Reported","0.000%
(0.000%)","0 (0)","1""MT-CYB","m.15350G>A",15350,"G-A","E202K","-/+","Possible sepsis factor","Reported","0.000%
(0.000%)","0 (0)","2""MT-CYB","m.15395A>G",15395,"A-G","K217E","+/-","Possible LHON factor","Reported","0.003%
(0.000%)","2 (0)","1""MT-CYB","m.15436C>A",15436,"C-A","L230L","nr/nr","Possible role in high altitude sickness","Reported","0.005%
(0.000%)","3 (0)","1""MT-CYB","m.15451C>T",15451,"C-T","F235F","+/-","Low VO2max response","Reported","0.089%
(0.000%)","53 (0)","1""MT-CYB","m.15453T>C",15453,"T-C","L236P","+/-","Isolated complex III deficiency","Reported","0.019%
(0.000%)","11 (0)","1""MT-CYB","m.15497G>A",15497,"G-A","G251S","+/-","EXIT / Obesity","Reported","0.490%
(0.000%)","291 (0)","5""MT-CYB","m.15498_15521del",15498,"24bp_deletion","GDPDNYTL-del","-/+","EXIT","Reported","0.000%
(0.000%)","0 (0)","2""MT-CYB","m.15498G>A",15498,"G-A","G251D","-/+","DEAF / Infantile histiocytoid cardiomyopathy","Reported","0.025%
(0.000%)","15 (0)","8""MT-CYB","m.15579A>G",15579,"A-G","Y278C","-/+","Multisystem Disorder, EXIT","Cfrm [VUS*]","0.000%
(0.000%)","0 (0)","5""MT-CYB","m.15615G>A",15615,"G-A","G290D","-/+","EXIT / Antimycin resistance","Reported","0.000%
(0.000%)","0 (0)","4""MT-CYB","m.15620C>A",15620,"C-A","L292I","-/+","Leigh Syndrome helper mut","Reported","0.000%
(0.000%)","0 (0)","1""MT-CYB","m.15635T>C",15635,"T-C","S297P","+/-","Polyvisceral failure","Reported","0.003%
(0.000%)","2 (0)","1""MT-CYB","m.15649_15666del",15649,"18bp_deletion","ILAMIP-del","-/+","Multisystem Disorder, EXIT","Reported","0.000%
(0.000%)","0 (0)","1""MT-CYB","m.15662A>G",15662,"A-G","I306V","+/+","Complex mitochondriopathy-associated","Reported","0.343%
(0.000%)","204 (0)","1""MT-CYB","m.15674T>C",15674,"T-C","S310P","+/-","LHON","Reported","0.271%
(0.000%)","161 (0)","2""MT-CYB","m.15693T>C",15693,"T-C","M316T","+/-","Possibly LVNC cardiomyopathy-associated","Reported","1.238%
(0.000%)","735 (0)","1""MT-CYB","m.15699G>C",15699,"G-C","R318P","-/+","Muscle Weakness SNHL and Migraine","Reported","0.000%
(0.000%)","0 (0)","2""MT-CYB","m.15723G>A",15723,"G-A","W326term","-/+","EXIT","Reported","0.000%
(0.000%)","0 (0)","1""MT-CYB","m.15761G>A",15761,"G-A","G339term","/+","MM","Reported","0.000%
(0.000%)","0 (0)","1""MT-CYB","m.15762G>A",15762,"G-A","G339E","-/+","MM","Reported","0.000%
(0.000%)","0 (0)","1""MT-CYB","m.15773G>A",15773,"G-A","V343M","+/-","LHON","Reported - possibly synergistic","0.123%
(0.000%)","73 (0)","1""MT-CYB","m.15784T>C",15784,"T-C","P346P","+/-","POAG - potential for association","Reported","3.277%
(0.000%)","1946 (0)","3""MT-CYB","m.15800C>T",15800,"C-T","Q352term","-/+","EXIT / Myopathy","Reported","0.000%
(0.000%)","0 (0)","2""MT-CYB","m.15804T>C",15804,"T-C","V353A","+/-","Fibromyalgia","Reported","0.059%
(0.000%)","35 (0)","2""MT-CYB","m.15812G>A",15812,"G-A","V356M","+/-","LHON","Reported / Secondary","0.859%
(0.000%)","510 (0)","21""MT-CR","m.16068T>C",16068,"T-C","noncoding","+/-","Low VO2max response","Reported","0.022%
(0.051%)","13 (40)","1""MT-CR","m.16081A>G",16081,"A-G","noncoding","-/+","Cyclic Vomiting Syndrome","Reported","0.003%
(0.039%)","2 (31)","1""MT-CR","m.16093T>C",16093,"T-C","noncoding","-/+","Cyclic Vomiting Syndrome","Reported","5.693%
(6.529%)","3381 (5150)","2""MT-CR","m.16125G>A",16125,"G-A","noncoding","+/-","Low VO2max response","Reported","0.003%
(0.034%)","2 (27)","1""MT-CR","m.16129G>A",16129,"G-A","noncoding","-/+","Cyclic Vomiting Syndrome with Migraine","Reported","12.962%
(15.392%)","7698 (12142)","1""MT-CR","m.16176C>T",16176,"C-T","noncoding","-/+","Cyclic Vomiting Syndrome with Migraine","Reported","0.807%
(0.771%)","479 (608)","1""MT-CR","m.16183A>C",16183,"A-C","noncoding","nr/+","Melanoma patients","Reported","12.955%
(15.196%)","7694 (11987)","1""MT-CR","m.16188_16189insC",16188,"C-CC","noncoding","-/+","Possible association with sepsis","Reported","0.042%
(0.275%)","25 (217)","1""MT-CR","m.16189T>C",16189,"T-C","noncoding","+/-","Diabetes / Cardiomyopathy /cancer risk / mtDNA copy nbr / Metabolic Syndrome / Melanoma patients","Reported","24.813%
(25.894%)","14736 (20426)","34""MT-CR","m.16192C>T",16192,"C-T","noncoding","nr/nr","Melanoma patients","Reported","4.361%
(4.254%)","2590 (3356)","1""MT-CR","m.16217T>C",16217,"T-C","noncoding","+/-","Endometriosis","Reported","7.126%
(6.735%)","4232 (5313)","1""MT-CR","m.16270C>T",16270,"C-T","noncoding","nr/nr","Melanoma patients","Reported","4.947%
(3.151%)","2938 (2486)","1""MT-CR","m.16300A>G",16300,"A-G","noncoding","+/-","BD-associated","Reported","0.514%
(0.659%)","305 (520)","2""MT-CR","m.16318A>C",16318,"A-C","noncoding","nr/nr","Non-alcoholic steatohepatitis - potential for association","Reported","0.158%
(0.150%)","94 (118)","1""MT-CR","m.16390G>A",16390,"G-A","noncoding","+/-","POAG - potential for association","Reported","5.459%
(5.906%)","3242 (4659)","3""MT-CR","m.16519=",16519,"T-T","noncoding","+/-","Cyclic Vomiting Syndrome with Migraine /metastasis","Reported","37.827%
(0.000%)","22465 (0)","4"


* FL: full length sequences, CR: control reqion sequences

High Frequency Haplogroups:

Variants found in haplogroups at 50% or higher are marked with . You may click a flagged link to see the high-scoring haplogroups. For detailed info about the high frequency haplogroup flag, please check the calculation criteria.

Notes:

LHON Leber Hereditary Optic Neuropathy MM Mitochondrial Myopathy
AD Alzeimer's Disease LIMM Lethal Infantile Mitochondrial Myopathy
ADPD Alzeimer's Disease and Parkinsons's Disease MMC Maternal Myopathy and Cardiomyopathy
NARP Neurogenic muscle weakness, Ataxia, and Retinitis Pigmentosa; alternate phenotype at this locus is reported as Leigh Disease FICP Fatal Infantile Cardiomyopathy Plus, a MELAS-associated cardiomyopathy
MELAS Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes LDYT Leber's hereditary optic neuropathy and DYsTonia
MERRF Myoclonic Epilepsy and Ragged Red Muscle Fibers MHCM Maternally inherited Hypertrophic CardioMyopathy
CPEO Chronic Progressive External Ophthalmoplegia KSS Kearns Sayre Syndrome
DM Diabetes Mellitus DMDF Diabetes Mellitus + DeaFness
CIPO Chronic Intestinal Pseudoobstruction with myopathy and Ophthalmoplegia DEAF Maternally inherited DEAFness or aminoglycoside-induced DEAFness
PEM Progressive encephalopathy SNHL SensoriNeural Hearing Loss

  • Homoplasmy = pure mutant mtDNAs.
  • Heteroplasmy = mixture of mutant and normal mtDNAs.
  • nd = not determined.
  • "Reported" status indicates that one or more publications have considered the mutation as possibly pathologic. This is not an assignment of pathogenicity by MITOMAP but is a report of literature. Previously, mutations with this status were termed "Prov" (provisional).
  • "Cfrm"(confirmed) status indicates that at least two or more independent laboratories have published reports on the pathogenicity of a specific mutation. These mutations are generally accepted by the mitochondrial research community as being pathogenic. A status of "Cfrm" is not an assignment of pathogenicity by MITOMAP but is a report of published literature. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of some of these mutations.
  • "P.M." (point mutation / polymorphism) status indicates that some published reports have determined the mutation to be a non-pathogenic polymorphism.
Topic revision: r584 - 24 Jan 2023, ShipingZhang

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