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

Last Edited: Nov 29, 2022

The GB frequency data in Mitomap is derived from 56910 GenBank sequences with size greater than 15.4kbp and 78504 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 0.423%
(0.153%) 		241 (120) 1
MT-CR m.146T>C 146 T-C noncoding +/- Absence of Endometriosis Reported 19.063%
(12.041%) 		10849 (9453) 1
MT-CR m.150C>T 150 C-T noncoding +/+ Longevity / Cervical Carcinoma / HPV infection risk Conflicting reports 12.903%
(9.523%) 		7343 (7476) 9
MT-CR m.185G>A 185 G-A noncoding +/- Low VO2max response Reported 4.027%
(1.995%) 		2292 (1566) 1
MT-CR m.195T>C 195 T-C noncoding +/+ BD-associated / melanoma pts Reported 18.886%
(11.748%) 		10748 (9223) 3
MT-CR m.228G>A 228 G-A noncoding +/- Low VO2max response Reported 2.745%
(0.867%) 		1562 (681) 1
MT-CR m.295C>T 295 C-T noncoding +/- Low VO2max response Reported 4.895%
(1.767%) 		2786 (1387) 2
MT-CR m.309_310insC 309 C-CC noncoding nr/nr AD-weakly associated Reported 1.079%
(1.219%) 		614 (957) 1
MT-CR m.309_310insCC 309 C-CCC noncoding nr/nr Higher in melanoma patient group Reported 0.023%
(0.001%) 		13 (1) 1
MT-CR m.310T>C 310 T-C noncoding / Possible protective factor for normal tension glaucoma Reported 39.937%
(28.392%) 		22728 (22289) 1
MT-CR m.315_316insC 315 C-CC noncoding nr/nr Melanoma patients Reported 30.127%
(20.431%) 		17145 (16039) 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 3.697%
(0.953%) 		2104 (748) 2
MT-CR m.489T>C 489 T-C noncoding +/- Low VO2max response Reported 25.344%
(15.454%) 		14423 (12132) 1
MT-CR m.499G>A 499 G-A noncoding +/- Endometriosis / possible protective factor for high altitude sicknes Reported 3.794%
(1.950%) 		2159 (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 1.002%
(0.003%) 		570 (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 0.622%
(0.000%) 		354 (0) 16
MT-ND1 m.3308T>G 3308 T-G M1term +/+ Sudden Infant Death Reported 0.011%
(0.000%) 		6 (0) 1
MT-ND1 m.3310C>T 3310 C-T P2S +/+ Diabetes / HCM Reported 0.023%
(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 0.956%
(0.000%) 		544 (0) 22
MT-ND1 m.3335T>C 3335 T-C I10T +/- LHON Reported 0.102%
(0.000%) 		58 (0) 1
MT-ND1 m.3336T>C 3336 T-C I10I -/+ Carotid atherosclerosis risk Reported 0.355%
(0.000%) 		202 (0) 3
MT-ND1 m.3337G>A 3337 G-A V11M +/- Cardiomyopathy Reported - possibly synergistic 0.151%
(0.000%) 		86 (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 0.046%
(0.000%) 		26 (0) 1
MT-ND1 m.3391G>A 3391 G-A G29S +/- LHON Reported 0.095%
(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 1.304%
(0.000%) 		742 (0) 42
MT-ND1 m.3395A>G 3395 A-G Y30C +/+ LHON / HCM with hearing loss Reported 0.046%
(0.000%) 		26 (0) 9
MT-ND1 m.3396T>C 3396 T-C Y30Y +/- NSHL / MIDD Reported / Unclear 0.738%
(0.000%) 		420 (0) 2
MT-ND1 m.3397A>G 3397 A-G M31V +/- ADPD / possibly LVNC-cardiomyopathy associated / resistance to high altitude pulmonary edema Reported 0.285%
(0.000%) 		162 (0) 11
MT-ND1 m.3398T>C 3398 T-C M31T +/- DMDF+HCM / GDM / possibly LVNC cardiomyopathy-associated Reported 0.432%
(0.000%) 		246 (0) 5
MT-ND1 m.3399A>T 3399 A-T M31I +/- Gestational Diabetes (GDM) Reported 0.046%
(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%) 		77 (0) 2
MT-ND1 m.3460G>A 3460 G-A A52T +/+ LHON Cfrm 0.054%
(0.000%) 		31 (0) 216
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 0.009%
(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 0.018%
(0.000%) 		10 (0) 3
MT-ND1 m.3497C>T 3497 C-T A64V +/- LHON Reported / Secondary 0.351%
(0.000%) 		200 (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 0.062%
(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 3.467%
(0.000%) 		1973 (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 0.230%
(0.000%) 		131 (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] 0.016%
(0.000%) 		9 (0) 17
MT-ND1 m.3644T>C 3644 T-C V113A nr/nr BD-associated Reported 0.385%
(0.000%) 		219 (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*] 0.004%
(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 0.188%
(0.000%) 		107 (0) 2
MT-ND1 m.3745G>A 3745 G-A A147T +/+ LHON / high altitude variant Reported / Population-dependent 0.186%
(0.000%) 		106 (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 0.471%
(0.000%) 		268 (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 0.262%
(0.000%) 		149 (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 0.032%
(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 0.014%
(0.000%) 		8 (0) 2
MT-ND1 m.4136A>G 4136 A-G Y277C +/- LHON Reported - possibly synergistic 0.121%
(0.000%) 		69 (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*] 0.004%
(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 0.009%
(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 10.299%
(0.000%) 		5861 (0) 51
MT-ND2 m.4491G>A 4491 G-A V8I +/- High altitude pulmonary edema susceptibility Reported 1.608%
(0.000%) 		915 (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 0.336%
(0.000%) 		191 (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 0.170%
(0.000%) 		97 (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 2.399%
(0.000%) 		1365 (0) 2
MT-ND2 m.4833A>G 4833 A-G T122A +/- Diabetes helper mutation AD, PD Reported 0.989%
(0.000%) 		563 (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 4.613%
(0.000%) 		2625 (0) 2
MT-ND2 m.4917A>G 4917 A-G N150D +/- LHON / Insulin Resistance / AMD / NRTI-PN Reported 4.939%
(0.000%) 		2811 (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 0.014%
(0.000%) 		8 (0) 1
MT-ND2 m.4959G>A 4959 G-A A164T nr/nr Possible LHON helper (one 11778 patient) Reported 0.098%
(0.000%) 		56 (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 0.033%
(0.000%) 		19 (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 0.617%
(0.000%) 		351 (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 4.570%
(0.000%) 		2601 (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 0.037%
(0.000%) 		21 (0) 2
MT-ND2 m.5460G>A 5460 G-A A331T +/+ AD / PD / LHON Conflicting reports 6.805%
(0.000%) 		3873 (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 0.436%
(0.000%) 		248 (0) 1
MT-CO1 m.5913G>A 5913 G-A D4N +/- Prostate Cancer / hypertension Reported 0.914%
(0.000%) 		520 (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 0.025%
(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 0.408%
(0.000%) 		232 (0) 2
MT-CO1 m.6253T>C 6253 T-C M117T +/- Prostate Cancer / enriched in POAG cohort Reported 0.991%
(0.000%) 		564 (0) 3
MT-CO1 m.6261G>A 6261 G-A A120T +/- Prostate Cancer / LHON Reported 0.726%
(0.000%) 		413 (0) 4
MT-CO1 m.6267G>A 6267 G-A A122T +/- Prostate Cancer Reported 0.151%
(0.000%) 		86 (0) 1
MT-CO1 m.6285G>A 6285 G-A V128I +/- Prostate Cancer Reported 0.214%
(0.000%) 		122 (0) 1
MT-CO1 m.6307A>G 6307 A-G N135S ./+ Asthenozoospermic infertility Reported 0.004%
(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 0.170%
(0.000%) 		97 (0) 2
MT-CO1 m.6367T>C 6367 T-C V155A -/+ Possible association with sepsis Reported 0.040%
(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 0.267%
(0.000%) 		152 (0) 4
MT-CO1 m.6489C>A 6489 C-A L196I -/+ CO1 deficiency with epilepsia partialis continua Reported 0.155%
(0.000%) 		88 (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 0.274%
(0.000%) 		156 (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 2.388%
(0.000%) 		1359 (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 0.011%
(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 0.112%
(0.000%) 		64 (0) 1
MT-CO1 m.7083A>G 7083 A-G I394V +/- Prostate Cancer Reported 0.026%
(0.000%) 		15 (0) 1
MT-CO1 m.7158A>G 7158 A-G I419V +/- Prostate Cancer Reported 0.069%
(0.000%) 		39 (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 0.144%
(0.000%) 		82 (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 0.040%
(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 0.341%
(0.000%) 		194 (0) 31
MT-CO1 m.7445A>C 7445 A-C term514S +/- DEAF Reported 0.026%
(0.000%) 		15 (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 1.098%
(0.000%) 		625 (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 0.004%
(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 0.487%
(0.000%) 		277 (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 0.274%
(0.000%) 		156 (0) 1
MT-CO2 m.7868C>T 7868 C-T L95F +/- LHON Reported - possibly synergistic 0.026%
(0.000%) 		15 (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 0.004%
(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 0.046%
(0.000%) 		26 (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 0.127%
(0.000%) 		72 (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 0.023%
(0.000%) 		13 (0) 2
MT-ATP8 m.8393C>T 8393 C-T P10S -/+ Reversible brain pseudoatrophy Reported 0.518%
(0.000%) 		295 (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 0.004%
(0.000%) 		2 (0) 1
MT-ATP8 m.8412T>C 8412 T-C M16T +/- Possible LHON helper mutation Reported 0.033%
(0.000%) 		19 (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 3.817%
(0.000%) 		2172 (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.8481C>T 8481 C-T P39L +/- Tetralogy of Fallot patient Reported 0.016%
(0.000%) 		9 (0) 1
MT-ATP8 m.8490T>C 8490 T-C M42T +/- Peripheral neuropathy of T2DM Reported 0.044%
(0.000%) 		25 (0) 4
MT-ATP8 m.8519G>A 8519 G-A E52K +/- Susceptibility to bullous pemphigoid Reported 0.271%
(0.000%) 		154 (0) 1
MT-ATP8/6 m.8527A>G 8527 A-G ATP8:K54K ATP6:M1M +/- Neuromuscular disorder, possible helper mutation Reported 0.376%
(0.000%) 		214 (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 0.032%
(0.000%) 		18 (0) 1
MT-ATP8/6 m.8558C>T 8558 C-T ATP8:P65S ATP6:A11V +/- Possibly LVNC cardiomyopathy-associated Reported 0.026%
(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 0.364%
(0.000%) 		207 (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%) 		59 (0) 1
MT-ATP6 m.8578C>T 8578 C-T P18S +/- Spinocerebellar ataxia Reported 0.053%
(0.000%) 		30 (0) 1
MT-ATP6 m.8597T>C 8597 T-C I24T -/+ Leigh Syndrome Reported 0.030%
(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 0.026%
(0.000%) 		15 (0) 3
MT-ATP6 m.8668T>C 8668 T-C W48R +/- LHON Reported 0.058%
(0.000%) 		33 (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 2.750%
(0.000%) 		1565 (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.8812A>G 8812 A-G T96A -/+ Spinocerebellar ataxia Reported 0.109%
(0.000%) 		62 (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 0.293%
(0.000%) 		167 (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 0.336%
(0.000%) 		191 (0) 1
MT-ATP6 m.8851T>C 8851 T-C W109R +/+ BSN / Leigh syndrome Cfrm [VUS*] 0.005%
(0.000%) 		3 (0) 9
MT-ATP6 m.8881T>C 8881 T-C S119P nr/nr Patient with suspected mitochondrial disease Reported 0.002%
(0.000%) 		1 (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.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*] 0.376%
(0.000%) 		214 (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 0.081%
(0.000%) 		46 (0) 1
MT-ATP6 m.8950G>A 8950 G-A V142I +/- LDYT / Spinocerebellar Ataxia Reported 0.142%
(0.000%) 		81 (0) 4
MT-ATP6 m.8951T>C 8951 T-C V142A nr/nr Patient with ataxia Reported 0.016%
(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.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] 0.004%
(0.000%) 		2 (0) 49
MT-ATP6 m.8993T>G 8993 T-G L156R +/+ NARP / Leigh Disease / MILS / other Cfrm [P] 0.011%
(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 0.012%
(0.000%) 		7 (0) 2
MT-ATP6 m.9010G>A 9010 G-A A162T -/+ Unspecified neurological disorder Reported 0.047%
(0.000%) 		27 (0) 1
MT-ATP6 m.9016A>G 9016 A-G I164V -/+ LHON Reported 0.023%
(0.000%) 		13 (0) 2
MT-ATP6 m.9017T>C 9017 T-C I164T -/+ Unspecified neurological disorder Reported 0.023%
(0.000%) 		13 (0) 1
MT-ATP6 m.9025G>A 9025 G-A G167S +/- Motor neuropathy, Leigh-like, colon cancer Reported 0.067%
(0.000%) 		38 (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 0.093%
(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*] 4.240%
(0.000%) 		2413 (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 0.058%
(0.000%) 		33 (0) 1
MT-ATP6 m.9071C>T 9071 C-T S182L +/- Potentially functional variant cosegregating with LHON3635A Reported 0.026%
(0.000%) 		15 (0) 1
MT-ATP6 m.9088T>C 9088 T-C S188P -/+ Patient with suspected mitochondrial disease Reported by paper as Likely Benign 0.040%
(0.000%) 		23 (0) 1
MT-ATP6 m.9098T>C 9098 T-C I191T +/- Predisposition to anti-retroviral mito disease Reported 0.097%
(0.000%) 		55 (0) 1
MT-ATP6 m.9101T>C 9101 T-C I192T +/- LHON Reported 0.104%
(0.000%) 		59 (0) 9
MT-ATP6 m.9115A>G 9115 A-G I197V +/- Patient with suspected mitochondrial disease Reported 0.046%
(0.000%) 		26 (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 0.081%
(0.000%) 		46 (0) 1
MT-ATP6 m.9152T>C 9152 T-C I209T -/+ Patient with suspected mitochondrial disease Reported 0.030%
(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 1.044%
(0.000%) 		594 (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%) 		21 (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 0.042%
(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 0.297%
(0.000%) 		169 (0) 13
MT-CO3 m.9856T>C 9856 T-C I217T +/- LVNC cardiomyopathy / gout Reported 0.028%
(0.000%) 		16 (0) 2
MT-CO3 m.9861T>C 9861 T-C F219L +/- AD Reported 0.214%
(0.000%) 		122 (0) 1
MT-CO3 m.9921G>A 9921 G-A A239T +/- Possible LHON helper mutation Reported 0.105%
(0.000%) 		60 (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%) 		46 (0) 9
MT-CO3 m.9966G>A 9966 G-A V254I nr/nr LHON possible helper variant Reported 0.657%
(0.000%) 		374 (0) 1
MT-CO3 m.9972A>C 9972 A-C I256L -/+ EXIT & APS2 - possible link Reported 0.002%
(0.000%) 		1 (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 0.749%
(0.000%) 		426 (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 1.207%
(0.000%) 		687 (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 0.167%
(0.000%) 		95 (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 0.785%
(0.000%) 		447 (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 57.377%
(0.000%) 		32653 (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 42.611%
(0.000%) 		24250 (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 2.355%
(0.000%) 		1340 (0) 2
MT-ND4L m.10652T>C 10652 T-C I61I -/+ BD / MDD-associated Reported 0.100%
(0.000%) 		57 (0) 1
MT-ND4L m.10663T>C 10663 T-C V65A +/- LHON Cfrm [LP] 0.004%
(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 0.030%
(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 0.385%
(0.000%) 		219 (0) 7
MT-ND4 m.11150G>A 11150 G-A A131T +/- Found in a Multiple Sclerosis patient Reported 0.241%
(0.000%) 		137 (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 9.661%
(0.000%) 		5498 (0) 2
MT-ND4 m.11253T>C 11253 T-C I165T +/- LHON PD Reported 0.506%
(0.000%) 		288 (0) 9
MT-ND4 m.11365T>C 11365 T-C A202A +/- found in HCM patient Reported 0.207%
(0.000%) 		118 (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 12.694%
(0.000%) 		7224 (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 0.040%
(0.000%) 		23 (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 0.619%
(0.000%) 		352 (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] 0.329%
(0.000%) 		187 (0) 406
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 0.107%
(0.000%) 		61 (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 0.004%
(0.000%) 		2 (0) 2
MT-ND4 m.12026A>G 12026 A-G I423V +/- DM Reported 0.452%
(0.000%) 		257 (0) 4
MT-ND4 m.12027T>C 12027 T-C I423T nr/nr SZ-associated Reported 0.004%
(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%) 		21 (0) 1
MT-ND4 m.12063C>T 12063 C-T T435I nr/nr Recurrent pregnancy loss Reported 0.072%
(0.000%) 		41 (0) 1
MT-ND5 m.12338T>C 12338 T-C M1T +/- DEAF1555 increased penetrance / LHON Conflicting reports 0.341%
(0.000%) 		194 (0) 11
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 0.599%
(0.000%) 		341 (0) 2
MT-ND5 m.12372G>A 12372 G-A L12L +/- Altered brain pH / sCJD patients Reported 13.637%
(0.000%) 		7761 (0) 3
MT-ND5 m.12397A>G 12397 A-G T21A +/- PD, early onset Reported 0.629%
(0.000%) 		358 (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 0.481%
(0.000%) 		274 (0) 1
MT-ND5 m.12622G>A 12622 G-A V96I +/+ Leigh Disease Conflicting reports 0.018%
(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 0.394%
(0.000%) 		224 (0) 3
MT-ND5 m.12662A>G 12662 A-G N109S nr/nr Recurrent pregnancy loss Reported 0.132%
(0.000%) 		75 (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 39.787%
(0.000%) 		22643 (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 1.137%
(0.000%) 		647 (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] 0.002%
(0.000%) 		1 (0) 8
MT-ND5 m.13045A>C 13045 A-C M237L -/+ MELAS / LHON / Leigh overlap syndrome Reported 0.000%
(0.000%) 		0 (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 0.004%
(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 0.938%
(0.000%) 		534 (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 0.072%
(0.000%) 		41 (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 2.905%
(0.000%) 		1653 (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 0.127%
(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 5.368%
(0.000%) 		3055 (0) 1
MT-ND5 m.13637A>G 13637 A-G Q434R +/- Possible LHON factor Reported 0.984%
(0.000%) 		560 (0) 5
MT-ND5 m.13702C>G 13702 C-G R456G nr/nr Possible LHON helper (one 14484 patient) Reported 0.030%
(0.000%) 		17 (0) 1
MT-ND5 m.13707G>A 13707 G-A L457L +/- Low VO2max response Reported 0.047%
(0.000%) 		27 (0) 1
MT-ND5 m.13708G>A 13708 G-A A458T +/+ LHON / Increased MS risk / higher freq in PD-ADS Conflicting reports 7.461%
(0.000%) 		4246 (0) 53
MT-ND5 m.13712C>T 13712 C-T A459V nr/nr Possible LHON helper (one 11778 patient) Reported 0.016%
(0.000%) 		9 (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 3.491%
(0.000%) 		1987 (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 0.313%
(0.000%) 		178 (0) 4
MT-ND5 m.14002A>G 14002 A-G T556A +/- High altitude pulmonary edema susceptibility Reported 0.235%
(0.000%) 		134 (0) 1
MT-ND5 m.14063T>C 14063 T-C I576T +/- Potentially functional variant cosegregating with LHON3635A Reported 0.044%
(0.000%) 		25 (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 0.023%
(0.000%) 		13 (0) 3
MT-ND6 m.14179A>G 14179 A-G Y165Y nr/nr Recurrent pregnancy loss Reported 0.497%
(0.000%) 		283 (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 0.053%
(0.000%) 		30 (0) 1
MT-ND6 m.14263C>T 14263 C-T E137E nr/nr Recurrent pregnancy loss Reported 0.011%
(0.000%) 		6 (0) 1
MT-ND6 m.14279G>A 14279 G-A S132L +/- LHON Reported 0.011%
(0.000%) 		6 (0) 7
MT-ND6 m.14319T>C 14319 T-C N119D +/- PD, early onset Reported 0.132%
(0.000%) 		75 (0) 3
MT-ND6 m.14325T>C 14325 T-C N117D +/- LHON Reported 0.091%
(0.000%) 		52 (0) 4
MT-ND6 m.14340C>T 14340 C-T V112M +/- SNHL Reported 0.035%
(0.000%) 		20 (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 0.004%
(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] 0.004%
(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] 0.112%
(0.000%) 		64 (0) 257
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] 0.004%
(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 0.350%
(0.000%) 		199 (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] 0.011%
(0.000%) 		6 (0) 11
MT-ND6 m.14577T>C 14577 T-C I33V -/+ MIDM Reported 0.752%
(0.000%) 		428 (0) 1
MT-ND6 m.14582A>G 14582 A-G V31A +/- LHON synergistic combo 14258A + 14582G Reported: individually neutral variants causing LHON in combination 0.578%
(0.000%) 		329 (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 3.989%
(0.000%) 		2270 (0) 1
MT-CYB m.14783T>C 14783 T-C L13L nr/nr Possible role in high altitude sickness Reported 20.617%
(0.000%) 		11733 (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 0.193%
(0.000%) 		110 (0) 3
MT-CYB m.14841A>G 14841 A-G N32S -/+ LHON helper mut. Reported 0.037%
(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 0.004%
(0.000%) 		2 (0) 1
MT-CYB m.14894T>C 14894 T-C F50L nr/nr LHON Reported 0.014%
(0.000%) 		8 (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 0.058%
(0.000%) 		33 (0) 1
MT-CYB m.15043G>A 15043 G-A G99G +/- MDD-associated / possible factor in high altitude sickness Reported 23.012%
(0.000%) 		13096 (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 0.221%
(0.000%) 		126 (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 0.011%
(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 0.009%
(0.000%) 		5 (0) 1
MT-CYB m.15218A>G 15218 A-G T158A +/- Possible LHON modulator Reported 1.769%
(0.000%) 		1007 (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 1.495%
(0.000%) 		851 (0) 1
MT-CYB m.15237T>C 15237 T-C I164T +/- Potentially functional variant cosegregating with LHON3635A Reported 0.011%
(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 1.457%
(0.000%) 		829 (0) 46
MT-CYB m.15287T>C 15287 T-C F181L -/+ Possible DEAF helper mut. Reported; hg I6a & H10c marker 0.156%
(0.000%) 		89 (0) 2
MT-CYB m.15301G>A 15301 G-A L185L nr/nr Possible factor in high altitude sickness, LHON Reported 27.245%
(0.000%) 		15505 (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 0.004%
(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 0.093%
(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 0.501%
(0.000%) 		285 (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 0.026%
(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 0.004%
(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 0.351%
(0.000%) 		200 (0) 1
MT-CYB m.15674T>C 15674 T-C S310P +/- LHON Reported 0.278%
(0.000%) 		158 (0) 2
MT-CYB m.15693T>C 15693 T-C M316T +/- Possibly LVNC cardiomyopathy-associated Reported 1.253%
(0.000%) 		713 (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 0.116%
(0.000%) 		66 (0) 1
MT-CYB m.15784T>C 15784 T-C P346P +/- POAG - potential for association Reported 3.156%
(0.000%) 		1796 (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 0.062%
(0.000%) 		35 (0) 2
MT-CYB m.15812G>A 15812 G-A V356M +/- LHON Reported / Secondary 0.873%
(0.000%) 		497 (0) 21
MT-CR m.16068T>C 16068 T-C noncoding +/- Low VO2max response Reported 0.023%
(0.051%) 		13 (40) 1
MT-CR m.16081A>G 16081 A-G noncoding -/+ Cyclic Vomiting Syndrome Reported 0.002%
(0.039%) 		1 (31) 1
MT-CR m.16093T>C 16093 T-C noncoding -/+ Cyclic Vomiting Syndrome Reported 5.741%
(6.526%) 		3267 (5123) 2
MT-CR m.16125G>A 16125 G-A noncoding +/- Low VO2max response Reported 0.004%
(0.034%) 		2 (27) 1
MT-CR m.16129G>A 16129 G-A noncoding -/+ Cyclic Vomiting Syndrome with Migraine Reported 13.070%
(15.409%) 		7438 (12097) 1
MT-CR m.16176C>T 16176 C-T noncoding -/+ Cyclic Vomiting Syndrome with Migraine Reported 0.815%
(0.764%) 		464 (600) 1
MT-CR m.16183A>C 16183 A-C noncoding nr/+ Melanoma patients Reported 13.107%
(15.258%) 		7459 (11978) 1
MT-CR m.16188_16189insC 16188 C-CC noncoding -/+ Possible association with sepsis Reported 0.040%
(0.276%) 		23 (217) 1
MT-CR m.16189T>C 16189 T-C noncoding +/- Diabetes / Cardiomyopathy /cancer risk / mtDNA copy nbr / Metabolic Syndrome / Melanoma patients Reported 25.020%
(25.974%) 		14239 (20391) 34
MT-CR m.16192C>T 16192 C-T noncoding nr/nr Melanoma patients Reported 4.393%
(4.249%) 		2500 (3336) 1
MT-CR m.16217T>C 16217 T-C noncoding +/- Endometriosis Reported 7.220%
(6.763%) 		4109 (5309) 1
MT-CR m.16270C>T 16270 C-T noncoding nr/nr Melanoma patients Reported 4.941%
(3.146%) 		2812 (2470) 1
MT-CR m.16300A>G 16300 A-G noncoding +/- BD-associated Reported 0.515%
(0.660%) 		293 (518) 2
MT-CR m.16318A>C 16318 A-C noncoding nr/nr Non-alcoholic steatohepatitis - potential for association Reported 0.165%
(0.145%) 		94 (114) 1
MT-CR m.16390G>A 16390 G-A noncoding +/- POAG - potential for association Reported 5.384%
(5.907%) 		3064 (4637) 3
MT-CR m.16519= 16519 T-T noncoding +/- Cyclic Vomiting Syndrome with Migraine /metastasis Reported 37.682%
(0.000%) 		21445 (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.
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Topic revision: r570 - 01 Dec 2022, ShipingZhang
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