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 | 0.424% (0.153%) |
241 (120) | 1 |
MT-CR | m.146T>C | 146 | T-C | noncoding | +/- | Absence of Endometriosis | Reported | 19.065% (12.041%) |
10847 (9453) | 1 |
MT-CR | m.150C>T | 150 | C-T | noncoding | +/+ | Longevity / Cervical Carcinoma / HPV infection risk | Conflicting reports | 12.904% (9.523%) |
7342 (7476) | 9 |
MT-CR | m.185G>A | 185 | G-A | noncoding | +/- | Low VO2max response | Reported | 4.028% (1.995%) |
2292 (1566) | 1 |
MT-CR | m.195T>C | 195 | T-C | noncoding | +/+ | BD-associated / melanoma pts | Reported | 18.886% (11.748%) |
10745 (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 | 4.897% (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 | 39.935% (28.392%) |
22721 (22289) | 1 |
MT-CR | m.315_316insC | 315 | C-CC | noncoding | nr/nr | Melanoma patients | Reported | 30.122% (20.431%) |
17138 (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 | 3.698% (0.953%) |
2104 (748) | 2 |
MT-CR | m.489T>C | 489 | T-C | noncoding | +/- | Low VO2max response | Reported | 25.350% (15.454%) |
14423 (12132) | 1 |
MT-CR | m.499G>A | 499 | G-A | noncoding | +/- | Endometriosis / possible protective factor for high altitude sicknes | Reported | 3.795% (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 | 0.620% (0.000%) |
353 (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 | 0.951% (0.000%) |
541 (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.3376G>A | 3376 | G-A | E24K | +/+ | LHON MELAS overlap | Cfrm | 0.000% (0.000%) |
0 (0) | 4 |
MT-ND1 | m.3380G>A | 3380 | G-A | R25Q | -/+ | MELAS | Reported | 0.005% (0.000%) |
3 (0) | 1 |
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) | 40 |
MT-ND1 | m.3395A>G | 3395 | A-G | Y30C | +/+ | LHON / HCM with hearing loss | Reported | 0.046% (0.000%) |
26 (0) | 8 |
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) | 3 |
MT-ND1 | m.3418A>G | 3418 | A-G | N38D | +/- | AMegL | Reported | 0.002% (0.000%) |
1 (0) | 1 |
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) | 206 |
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 | 0.352% (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 | 3.468% (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 | 0.016% (0.000%) |
9 (0) | 16 |
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) | 17 |
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.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 | 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 | 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) | 12 |
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 | 0.002% (0.000%) |
1 (0) | 19 |
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 | 0.004% (0.000%) |
2 (0) | 17 |
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 | 10.301% (0.000%) |
5861 (0) | 50 |
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 | 0.990% (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 | 4.614% (0.000%) |
2625 (0) | 2 |
MT-ND2 | m.4917A>G | 4917 | A-G | N150D | +/- | LHON / Insulin Resistance / AMD / NRTI-PN | Reported | 4.941% (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 | 4.572% (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 | 6.806% (0.000%) |
3872 (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 | 2.389% (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) | 30 |
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 | 0.002% (0.000%) |
1 (0) | 34 |
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 | 1.099% (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 | 0.272% (0.000%) |
155 (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 | 3.818% (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 | 0.267% (0.000%) |
152 (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 | 0.000% (0.000%) |
0 (0) | 8 |
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) | 3 |
MT-ATP6 | m.8639T>C | 8639 | T-C | I38T | +/- | Possible LHON modulator | Reported | 0.026% (0.000%) |
15 (0) | 2 |
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 | 2.751% (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 | 0.294% (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 | 0.002% (0.000%) |
1 (0) | 5 |
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) | 48 |
MT-ATP6 | m.8993T>G | 8993 | T-G | L156R | +/+ | NARP / Leigh Disease / MILS / other | Cfrm [P*] | 0.011% (0.000%) |
6 (0) | 158 |
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) | 1 |
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.9035T>C | 9035 | T-C | L170P | +/+ | Ataxia syndromes | Cfrm | 0.000% (0.000%) |
0 (0) | 5 |
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*] | 4.241% (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) | 8 |
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 | 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 [LP*] | 0.005% (0.000%) |
3 (0) | 34 |
MT-ATP6 | m.9176T>G | 9176 | T-G | L217R | +/+ | Leigh Disease / Spastic Paraplegia / Spinocerebellar Ataxia | Cfrm | 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 | 0.005% (0.000%) |
3 (0) | 34 |
MT-ATP6 | m.9191T>C | 9191 | T-C | L222P | -/+ | Leigh Disease | Reported [LP*] | 0.000% (0.000%) |
0 (0) | 5 |
MT-ATP6 | m.9205_9206del | 9205 | TA-del | Ter-M | +/- | Encephalopathy / Seizures / Lacticacidemia | Cfrm | 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 | 0.747% (0.000%) |
425 (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) | 32 |
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 | 0.000% (0.000%) |
0 (0) | 27 |
MT-ND3 | m.10197G>A | 10197 | G-A | A47T | +/+ | Leigh Disease / Dystonia / Stroke / LDYT | Cfrm | 0.007% (0.000%) |
4 (0) | 23 |
MT-ND3 | m.10237T>C | 10237 | T-C | I60T | +/- | LHON | Reported | 0.167% (0.000%) |
95 (0) | 4 |
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 | 0.786% (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 | 57.385% (0.000%) |
32649 (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 | 42.603% (0.000%) |
24239 (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 | 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) | 4 |
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 | 9.663% (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 | 12.695% (0.000%) |
7223 (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 | 0.000% (0.000%) |
0 (0) | 12 |
MT-ND4 | m.11778G>A | 11778 | G-A | R340H | +/+ | LHON / Progressive Dystonia | Cfrm | 0.329% (0.000%) |
187 (0) | 395 |
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.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 | 13.639% (0.000%) |
7760 (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 | 0.482% (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 | 39.779% (0.000%) |
22632 (0) | 1 |
MT-ND5 | m.12706T>C | 12706 | T-C | F124L | -/+ | Leigh Disease | Cfrm | 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 | 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 | 0.002% (0.000%) |
1 (0) | 11 |
MT-ND5 | m.13135G>A | 13135 | G-A | A267T | +/- | possible HCM susceptibility | Reported | 0.939% (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 | 0.000% (0.000%) |
0 (0) | 1 |
MT-ND5 | m.13379A>G | 13379 | A-G | H348R | +/- | LHON | Cfrm | 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) | 51 |
MT-ND5 | m.13514A>G | 13514 | A-G | D393G | -/+ | Leigh Disease / MELAS / Ca2+ downregulation | Cfrm | 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 | 5.370% (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 | 7.463% (0.000%) |
4246 (0) | 52 |
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) | 8 |
MT-ND5 | m.13759G>A | 13759 | G-A | A475T | +/- | Possible LHON factor | Reported | 3.492% (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 | 0.236% (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) | 6 |
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.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 | 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) | 43 |
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 | 0.004% (0.000%) |
2 (0) | 14 |
MT-ND6 | m.14482C>G | 14482 | C-G | M64I | +/+ | LHON | Cfrm | 0.000% (0.000%) |
0 (0) | 8 |
MT-ND6 | m.14484T>C | 14484 | T-C | M64V | +/+ | LHON | Cfrm | 0.112% (0.000%) |
64 (0) | 217 |
MT-ND6 | m.14487T>C | 14487 | T-C | M63V | -/+ | Dystonia / Leigh Disease / ataxia / ptosis / epilepsy | Cfrm | 0.000% (0.000%) |
0 (0) | 34 |
MT-ND6 | m.14495A>G | 14495 | A-G | L60S | -/+ | LHON | Cfrm | 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) | 9 |
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 | 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 | 3.990% (0.000%) |
2270 (0) | 1 |
MT-CYB | m.14783T>C | 14783 | T-C | L13L | nr/nr | Possible role in high altitude sickness | Reported | 20.622% (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 | 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 | 23.013% (0.000%) |
13093 (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 | 1.768% (0.000%) |
1006 (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 | 1.492% (0.000%) |
849 (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 | 27.248% (0.000%) |
15503 (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 | 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 | 0.352% (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 | 3.155% (0.000%) |
1795 (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 | 0.874% (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 | 5.740% (6.526%) |
3266 (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 | 13.059% (15.409%) |
7430 (12097) | 1 |
MT-CR | m.16176C>T | 16176 | C-T | noncoding | -/+ | Cyclic Vomiting Syndrome with Migraine | Reported | 0.816% (0.764%) |
464 (600) | 1 |
MT-CR | m.16183A>C | 16183 | A-C | noncoding | nr/+ | Melanoma patients | Reported | 13.107% (15.258%) |
7457 (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 | 25.013% (25.974%) |
14231 (20391) | 34 |
MT-CR | m.16192C>T | 16192 | C-T | noncoding | nr/nr | Melanoma patients | Reported | 4.394% (4.249%) |
2500 (3336) | 1 |
MT-CR | m.16217T>C | 16217 | T-C | noncoding | +/- | Endometriosis | Reported | 7.222% (6.763%) |
4109 (5309) | 1 |
MT-CR | m.16270C>T | 16270 | C-T | noncoding | nr/nr | Melanoma patients | Reported | 4.939% (3.146%) |
2810 (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 | 5.385% (5.907%) |
3064 (4637) | 3 |
MT-CR | m.16519= | 16519 | T-T | noncoding | +/- | Cyclic Vomiting Syndrome with Migraine /metastasis | Reported | 37.673% (0.000%) |
21434 (0) | 4 |
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.
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 |