id pos ref alt aachange homoplasmy heteroplasmy disease status pubmed_ids gbcnt gbfreq 571 72 T C noncoding nr nr Protective factor for stroke risk (hg V) Reported 37793469 1127 1.8212 205 114 C T noncoding + - BD-associated Reported 19290059 265 0.4282 355 146 T C noncoding + - Absence of Endometriosis Reported 29124462 11691 18.8921 166 150 C T noncoding + + Longevity / Cervical Carcinoma / HPV infection risk Conflicting reports 12538859, 11404057, 12606714, 15483642, 21262335, 16857160, 21319252, 21385627, 29467576, 24792352 8048 13.0052 206 195 T C noncoding + + BD-associated / melanoma pts Reported 19290059, 22174736, 27217714 11678 18.8711 294 309 C CCC noncoding nr nr Higher in melanoma patient group Reported 22174736 253 0.4088 218 309 C CC noncoding nr nr AD-weakly associated Reported 19703591 698 1.1279 447 310 T C noncoding Possible protective factor for normal tension glaucoma Reported 30312593 24726 39.9560 295 315 C CC noncoding nr nr Melanoma patients Reported 22174736 18754 30.3056 517 351 A G noncoding nr nr Patient with CPEO Reported 32504279 0 0.0000 354 499 G A noncoding + - Endometriosis / possible protective factor for high altitude sicknes Reported 23096691, 29124462 2330 3.7652 363 547 A T noncoding + - Tubulointerstitial kidney disease Reported 28267784 0 0.0000 356 573 C CCC noncoding + - Absence of Endometriosis Reported 29124462 667 1.0778 416 576 A G nr nr Hearing loss patient Reported 32169613 3 0.0048 378 578 T C nr + Unspecified patient from clinical lab / MS Reported [VUS-] 31965079, 27119776 0 0.0000 109 582 T C - + Mitochondrial myopathy Reported 14659412, 19718780, 17878308 0 0.0000 1 583 G A - + MELAS / MM & EXIT Cfrm [VUS*] 9771776, 31965079, 16806928, 19718780, 17878308 0 0.0000 233 586 G A - + Extrapyramidal disorder with akinesia-rigidity, psychosis and SNHL Reported [VUS] 31965079, 21060018, 19718780, 31687337, 31463198, 31534910 0 0.0000 389 590 A G - + EXIT+ataxia+RP Reported [VUS] 32419253 0 0.0000 466 591 C T + - Gitelman-like syndrome Cfrm [LP] 34607911 0 0.0000 359 593 T C + - Nonsyndromic hearing loss / LHON Reported 22039503, 22110754, 31965079, 28579530, 33552719, 34053002, 34120304 321 0.5187 269 602 C T - + Axial myopathy with encephalopathy Reported 21424749, 22781547 0 0.0000 2 606 A G + + Myoglobinuria Unclear 9066365, 31965079, 14733964, 10611123, 17878308 23 0.0372 3 608 A G + - Tubulo-interstitial nephritis Reported [VUS] 11231339, 22781547, 17878308 0 0.0000 113 611 G A - + MERRF Reported [VUS] 15184630, 20142618, 19718780, 17878308 0 0.0000 237 616 T C + + Maternally inherited epilepsy / mito tubulointerstitial kidney disease (MITKD) / Gitelman-like syndrome Cfrm [LP] 31965079, 20142618, 28267784, 31722346, 35472031, 34607911 1 0.0016 161 616 T G + + Maternally inherited epilepsy Reported [VUS] 20142618 1 0.0016 331 617 G A - + Carotid artery stenosis Reported 19091329 0 0.0000 4 618 T C - + MM Reported [VUS] 9636664, 31965079, 17878308 0 0.0000 278 618 T G - + Ptosis CPEO MM & EXIT Reported 21882289 0 0.0000 129 622 G A - + EXIT & Deafness Reported [VUS] 16769874, 19718780, 17878308 0 0.0000 274 625 G A - + SNHL & Epilepsy Reported 21914246 0 0.0000 319 628 C T - + DEAF Reported 31965079, 22979943 3 0.0048 169 636 A G + - DEAF Reported 23847141, 27498855, 18790089 20 0.0323 364 641 A T - + Epileptic Encephalopathy Reported 31009750 0 0.0000 167 642 T C - + Ataxia, PEO, deafness Reported 18977334 0 0.0000 467 643 A G + - Gitelman-like syndrome Reported 34607911 0 0.0000 340 653 G : - + Atherosclerosis risk Reported 28951770, 29670672 0 0.0000 352 653 G GG - + Atherosclerosis study Reported 29670672 0 0.0000 267 663 A G + - Coronary atherosclerosis risk Reported 21099167 1770 2.8602 178 669 T C + - DEAF Reported 19371214, 17637808, 20353758, 18851951 114 0.1842 197 721 T C + - Possibly LVNC-associated Reported 20211276 139 0.2246 263 735 A G nr nr DEAF Reported 20055758, 23301511 77 0.1244 219 745 A G + - DEAF-associated Reported 20100600 38 0.0614 482 747 A G + - DEAF-associated Reported 21205314 10 0.0162 198 750 A A + - SZ-associated Reported 19290059, 23563965, 27217714 908 1.4673 444 773 T C - + Possible association with sepsis Reported 33504965 4 0.0065 220 792 C T + - Increased risk of nonsyndromic deafness Reported 20100600 5 0.0081 221 801 A G + - DEAF-associated Reported 20100600 7 0.0113 64 827 A G + - DEAF Conflicting reports 19144107, 20722495, 15286157, 15841390, 16528519, 18261986, 18790089, 19371214, 16650816, 20353758, 20100600, 18611982, 21495045, 17489842, 30523288, 27230773, 16782057, 27654872 1597 2.5807 222 839 A G + - DEAF-associated Reported 20100600, 21205314 7 0.0113 199 850 T C + - Possibly LVNC-associated Reported 20211276 123 0.1988 183 856 A G + - LHON helper / AD / DEAF-associated Reported 8728098, 19703591, 20100600 18 0.0291 270 869 C T + - found in 1 HCM patient Reported 16266762 75 0.1212 200 921 T C + - Possibly LVNC-associated Reported 20211276, 27217714 434 0.7013 445 955 A C - + Possible association with sepsis Reported 33504965 2 0.0032 212 960 C CC + - Possibly DEAF-associated Reported 12394346, 19371214, 18851951, 30523288, 27654872 389 0.6286 211 960 C : + - Possibly DEAF-associated Reported 18851951 56 0.0905 104 961 T CC + + DEAF / AD-associated / intellectual disability Reported [LB] 8104867, 14681830, 7550368, 10220138, 19144107, 24092330, 14581685, 10326749, 12037390, 12394346, 16120283, 18790089, 19703591, 15917167, 18851951, 20100600, 21495045, 17489842, 19705751, 30053855, 27654872 0 0.0000 213 961 T G + - Possibly DEAF-associated Unclear 15286157, 18851951, 30523288, 23013294, 23969527, 19705751, 27654872 227 0.3668 107 961 T C + - DEAF, possibly LVNC-associated Unclear 7550368, 15841390, 16528519, 18325329, 19371214, 20100600, 17489842, 29336589, 27654872 559 0.9033 110 965 C CC + - DEAF Unclear 14681830, 14581685, 14699607, 10326749, 12037390, 12394346, 15126302, 15841390, 16380089, 20100600, 30523288, 19705751 1 0.0016 209 988 G A nr nr Possible DEAF risk factor Reported 20353758 55 0.0889 170 990 T C + - DEAF Reported 18790089 44 0.0711 120 1005 T C + - DEAF Unclear 27498855, 15841390, 16528519, 17489842, 19705751 275 0.4444 223 1027 A G + - DEAF-associated Reported [VUS] 20100600, 21205314 19 0.0307 5 1095 T C + + SNHL Unclear 11313749, 11079536, 16947981, 19144107, 15555598, 15637703, 15841390, 16528519, 18325329, 20100600, 21495045, 17489842, 16875663, 30523288, 19705751, 27654872, 21205314 65 0.1050 121 1116 A G + - DEAF Reported 15841390, 17489842 10 0.0162 397 1119 T C nr nr Possible role in high altitude sickness Reported 23096691 330 0.5333 214 1180 T G + - Possibly DEAF-associated Reported 24092330, 15286157 0 0.0000 224 1192 C A + - DEAF-associated Reported 27498855, 20100600 12 0.0194 225 1192 C T + - DEAF-associated Reported 20100600 15 0.0242 215 1226 C G + - Possibly DEAF-associated Reported 24092330, 15286157 0 0.0000 162 1291 T C + - DEAF Unclear 16458854, 16574076, 16777068 56 0.0905 226 1310 C T + - DEAF-associated Reported 20100600, 21205314 39 0.0630 227 1331 A G + - DEAF-associated Reported 20100600 20 0.0323 344 1349 T G - + DEAF Reported 0 0.0000 228 1374 A G + - DEAF-associated Reported 24092330, 20100600 1 0.0016 456 1382 A C + - Longevity / T2D susceptibility Reported 26289118, 33468709 195 0.3151 271 1391 T C + + found in 1 HCM patient Reported 16266762 128 0.2068 483 1413 T C + - DEAF-associated Reported 21205314 82 0.1325 345 1420 T G + + DEAF Reported 0 0.0000 201 1438 A A + - SZ-associated Reported 16947981, 19290059, 27217714 2755 4.4519 229 1452 T C + - DEAF-associated Reported 20100600 53 0.0856 210 1453 A G nr nr Possible DEAF risk factor Reported 20353758 111 0.1794 346 1492 A C - + DEAF Reported 0 0.0000 103 1494 C T + - DEAF Cfrm [LP] 14681830, 16947981, 16826519, 19144107, 20860455, 25838379, 25837512, 29253894, 24092330, 15126302, 15722487, 16380089, 17434445, 17698030, 17698299, 18308926, 18325329, 16458854, 19687236, 20100600, 16890911, 21495045, 17489842, 21047563, 29707576, 28901477, 30523288, 20209292, 30693673, 27654872, 34467602, 32400865, 37988592, 21205314 5 0.0081 153 1517 A C - + DEAF Reported 18325329 0 0.0000 179 1537 C T + - DEAF; intellectual disability Reported 17637808 9 0.0145 347 1544 A T + - DEAF Reported 24092330 0 0.0000 348 1546 A T + - DEAF Reported 0 0.0000 349 1554 G A + - DEAF Reported 0 0.0000 8 1555 A G + + DEAF; autism spectrum intellectual disability; possibly antiatherosclerotic Cfrm [P] 8285309, 8414970, 7689389, 7649544, 9040738, 9490575, 9164619, 9391883, 9831149, 9777488, 9887373, 9915970, 10414625, 10521300, 9779807, 7550368, 8800928, 10788333, 11388757, 10220138, 12031626, 16947981, 9315872, 16826519, 18154640, 18674747, 19144107, 20860455, 22341444, 23774020, 23847141, 25838379, 25837512, 25313049, 26404827, 28049726, 29253894, 24092330, 30369864, 37587338, 12711217, 15179218, 12372057, 12655418, 14699607, 12370316, 10905659, 12011058, 10326749, 8817331, 12955586, 12054632, 10915767, 11230176, 10577941, 14755216, 12394346, 15286157, 15126302, 15708009, 15841390, 16375862, 16168391, 16152638, 16406239, 16528519, 10760311, 10854117, 18308926, 18325329, 12920080, 16132471, 18386806, 18215147, 16513084, 8797567, 11174059, 9950117, 10739773, 11857751, 15542390, 10633132, 9111378, 8973709, 16631122, 16458854, 16574076, 16777068, 16955413, 17999439, 18820594, 18282333, 19026397, 18790089, 19371214, 17637808, 11215518, 15292920, 17341440, 19370763, 19687236, 19818876, 20353758, 8687424, 10424809, 20100600, 18775412, 20064630, 20123042, 17452034, 21456129, 21162657, 21495045, 20111055, 17489842, 21621438, 21725156, 21838605, 21504270, 22475488, 19376484, 29182774, 27308839, 21047563, 17723226, 29348176, 28951770, 29707576, 29336589, 29340697, 30272361, 29670672, 23395464, 25834827, 19082356, 28320335, 30523288, 19705751, 30693673, 31540444, 23301511, 18930888, 26361786, 32991883, 32867169, 27654872, 34467602, 26741492, 22567359, 35614445, 34732400, 36292680, 37737178, 32400865, 37988592, 30671084, 38465286, 21205314 85 0.1374 272 1556 C T + - found in 1 HCM patient Reported 16266762 13 0.0210 350 1575 T G + - DEAF Reported 0 0.0000 351 1577 T G - + DEAF Reported 0 0.0000 9 1606 G A - + AMDF / retinal degeneration Cfrm [VUS*] 9450773, 31965079, 12056939, 20064630, 29340697, 35148219 0 0.0000 287 1607 T C + + Suspected mito disease Reported 31965079, 23463613 12 0.0194 475 1608 G A - + Leigh Sydrome / Parkinsonism with dystonia Reported 37950446, 38039349, 38039350 1 0.0016 396 1612 C T + - LVNC (left ventricular noncompaction) Reported as VUS 33082984 0 0.0000 337 1616 A G nr nr MELAS Reported 28893805 0 0.0000 10 1624 C T + - Leigh Syndrome Cfrm [LP] 11799391, 17886296, 25652200, 31965079, 18400783, 32970680 0 0.0000 244 1630 A G - + MNGIE-like disease / MELAS Cfrm [VUS*] 19252805, 29428506, 31965079, 21540128, 23463613, 30815362, 31181796, 30709774, 30809469 0 0.0000 487 1636 A G - + Global developmental delay, CMT disease, progressive myoclonic epilepsy, paroxysmal arrhythmia, and brain atrophy Reported 31965079, 39243325 1 0.0016 457 1640 A G + + MELAS Reported 23301511 2 0.0032 11 1642 G A - + MELAS Reported 9443499, 8797538 0 0.0000 284 1643 A G + + Late infantile onset fatal mito disease Reported 22638997, 31965079 1 0.0016 273 1644 G A - + Leigh Syndrome / HCM / MELAS Cfrm [LP] 23847141, 31965079, 34298071, 15320572, 18314141, 24691472 0 0.0000 12 1644 G T - + Adult Leigh Syndrome Reported 9270602 0 0.0000 125 1659 T C - + Movement Disorder Reported [VUS] 31965079, 15465092, 38973423 0 0.0000 393 1661 A G + - Charcot Marie Tooth (CMT) Reported [VUS] 28027978, 32715519 1 0.0016 453 2156 A AA - + Possible association with sepsis Reported 7723627, 16895436, 16714301, 29343773, 22333566, 33504965 204 0.3297 375 2158 T C nr nr Reduced risk PD Reported 23645593, 30369864 248 0.4008 371 2336 T C + - Hypertrophic cardiomyopathy Reported 30196098, 24367055 0 0.0000 202 2352 T C + - Possibly LVNC-associated / fibromyalgia Reported 27498855, 32658146, 20211276, 27217714 1627 2.6292 203 2361 G A + - Possibly LVNC-associated Reported 20211276 149 0.2408 447 2492 G A - + Possible association with sepsis Reported 33504965 1 0.0016 312 2639 C A + - Rare mutation in a single POAG patient Reported 27217714 1 0.0016 489 2639 C T + - Proposed hg-specific mitigation of APOE4 pathogenicity Reported 38757793, 38520065 157 0.2537 448 2647 G A - + Possible association with sepsis Reported 33504965 1 0.0016 387 2648 T C nr nr Rett Syndrome Reported 32105570 1 0.0016 368 2706 A A + - Increased risk of T2DM in haplogroup H Reported 29208909 13416 21.6796 204 2755 A G + - Possibly LVNC-associated Reported 20211276, 27217714, 32887465 275 0.4444 449 2806 T A - + Possible association with sepsis Reported 33504965 0 0.0000 13 2835 C T - + Rett Syndrome Reported 9436797, 10457616 73 0.1180 266 3010 G A + - Cyclic Vomiting Syndrome with Migraine / high altitude adaptation Reported 16947981, 16773565, 19368653, 23096691, 25332060, 33420243, 19220304, 27217714, 32991883 9439 15.2530 450 3054 G A - + Possible association with sepsis Reported 33504965 0 0.0000 177 3090 G A - + Myopathy Reported 17761147 2 0.0032 14 3093 C G - + MELAS Reported 11455195, 17660142 0 0.0000 451 3096 T C - + Possible association with sepsis Reported 33504965 18 0.0291 452 3098 T C - + Possible association with sepsis Reported 33504965 0 0.0000 311 3111 A T + - Migraine Reported 6 0.0097 15 3196 G A + + ADPD Reported 8104867, 19703591 15 0.0242 163 3236 A G nr nr Sporadic bilateral optic neuropathy / hearing loss Reported 31965079, 18676632, 29161289, 32169613 4 0.0065 122 3242 G A + + MM / HCM+renal tubular dysfunction Cfrm [LP] 22781753, 24667782, 25313049, 31965079, 15870203, 19460299, 24339796, 21364701, 20550934, 37038312, 33380464, 14576046, 10214753 0 0.0000 18 3243 A T - + MM / MELAS / SNHL / CPEO Cfrm [LP] 9168904, 31965079, 15477393, 12729737, 18203188, 20471262, 33924034, 20550934, 32273537, 30210801, 23220830, 25504047 0 0.0000 16 3243 A G - + MELAS / Leigh Syndrome / DMDF / MIDD / SNHL / CPEO / MM / FSGS / ASD / Cardiac+multi-organ dysfunction Cfrm [P] 8363469, 8356881, 1584755, 1922812, 1586140, 8122891, 7965431, 1684568, 8363452, 8477849, 1549215, 2102678, 1674297, 1606473, 1755869, 8201329, 1670860, 1370535, 1405464, 1433821, 8042948, 1673015, 8122892, 1732728, 1434521, 2268345, 1715668, 7680123, 8326463, 1463007, 8151636, 1434520, 1315123, 8442706, 8129854, 1442494, 1713858, 1436526, 7912129, 7689068, 2903249, 8482977, 1539604, 1378759, 8138807, 8487499, 8518790, 1899574, 7684581, 8154867, 7910800, 1284550, 8373389, 8063037, 7743754, 7732778, 7599217, 7600089, 7603515, 7473662, 7639309, 8392410, 7599199, 7625445, 7603513, 8773598, 8723687, 8723071, 9455929, 9761239, 9748738, 9266470, 9196933, 9365365, 9537417, 9341162, 9225833, 9353631, 9262546, 9386859, 9541428, 9219161, 9024220, 9105898, 9212310, 9633820, 9146825, 9541116, 9149827, 9625453, 9437322, 9384601, 9073028, 9628277, 9455930, 9353617, 9222976, 9780603, 9798744, 9772417, 8728705, 9828917, 9778452, 9741403, 9822126, 9683591, 9619647, 9830283, 9884447, 9831303, 9889270, 9744809, 9323566, 10407850, 10399093, 8559168, 8829651, 10862082, 10675533, 11241464, 10939569, 10611124, 11335700, 11085913, 11889254, 11145497, 10220138, 10514449, 12612863, 11074292, 10858457, 11708999, 11175302, 9708761, 15880407, 9175737, 11742413, 17236134, 11874423, 17886296, 18674747, 16483543, 16815877, 16120315, 19297390, 20471050, 20973690, 21263444, 22115768, 22411789, 22080835, 23390135, 19561330, 23297368, 23272214, 22921075, 19253345, 19470619, 18753147, 24003133, 22306605, 21944974, 24667782, 16490799, 25192935, 25192510, 24864317, 25652200, 27919073, 21724600, 25313049, 26404827, 28932107, 29253894, 29700325, 28916769, 29318513, 31253706, 30369864, 31965079, 33257573, 34146515, 34298071, 33763872, 34969639, 34482029, 37587338, 15258237, 12574954, 12207817, 12609508, 14648149, 15032978, 12391367, 12590018, 12089377, 12874464, 14648337, 15220216, 15238271, 15180810, 10636741, 9598702, 14571459, 14639582, 12627331, 12150714, 12838523, 14722523, 15111665, 14748908, 15056184, 15126302, 10699169, 15752543, 15660201, 15870203, 15893315, 8751860, 8777986, 8712800, 16050991, 16120283, 16476929, 16476925, 15477393, 12729737, 10699170, 12101407, 10854117, 16290150, 15286228, 10699115, 17540956, 17653689, 16950816, 15372523, 7565871, 18252214, 17656376, 18290960, 7735877, 10716261, 10665488, 18391161, 8676159, 8255441, 10025431, 17664998, 18332310, 18165269, 18180872, 18402672, 15164188, 17172609, 17172605, 18441172, 15466086, 15328490, 18241671, 18306232, 10611123, 10100521, 12080997, 11488279, 10633132, 10890789, 8544626, 11331900, 17541738, 8809026, 18569490, 18294221, 18455161, 18319067, 18279408, 10525672, 8517674, 16337222, 17300999, 7714102, 11733107, 11507652, 17823937, 18647627, 18990125, 18976726, 18826862, 18950542, 16120317, 17637808, 11215518, 15292920, 19370763, 16326995, 19460299, 19204268, 17210904, 16717204, 19502062, 19589463, 15737668, 19169492, 19486129, 17664050, 20194621, 19376555, 10424809, 15585516, 10452273, 11260383, 10462141, 9845835, 11044204, 10645055, 20064630, 19941338, 20123042, 20610441, 21067488, 17403843, 11393411, 17689757, 19234880, 17336924, 16384802, 14673589, 11700163, 20799154, 19470628, 20111055, 20972245, 21473984, 21427669, 21496500, 21120938, 21935892, 19718780, 22270878, 22577219, 22249460, 15073091, 23376095, 19273755, 23838278, 17587249, 20164463, 24642831, 21443929, 24375076, 17223431, 11472454, 23288206, 26722549, 26112752, 22781547, 21364701, 25451262, 21850008, 26897329, 27450679, 27923514, 27986282, 28054208, 29161289, 29079678, 20552288, 20812177, 28140742, 10366077, 23806424, 16876129, 28847973, 27322764, 27402860, 29556788, 29536171, 29376197, 30095618, 22033022, 29983856, 29735722, 29560378, 30133155, 29343702, 29480536, 29139113, 17030784, 29928977, 28320335, 29390138, 30146801, 31083203, 30461153, 30801962, 29266179, 30089816, 30058726, 31641105, 31867706, 31143779, 31347509, 31630688, 19199242, 31682520, 29756269, 28668821, 28951556, 29980632, 17323145, 19864902, 30406307, 30962477, 32786181, 32881886, 32167396, 32970680, 32313153, 28754700, 26469001, 32948797, 11379873, 32169613, 22538251, 16446307, 32722320, 32220313, 32085658, 32696575, 31722256, 31726383, 18176143, 32439810, 33811417, 32504279, 34118021, 32554818, 34467602, 34829316, 33717984, 34737295, 24931247, 22567359, 34599203, 36053827, 15701731, 36010669, 11271374, 33484420, 36611807, 23230016, 33438095, 33541179, 29868447, 35778412, 36744444, 36130631, 28716227, 31665838, 36928678, 23257519, 29666206, 37038312, 37439868, 37737178, 12944725, 37988592, 38397113, 38465286, 33380464, 10214753, 32818253, 23920046 10 0.0162 123 3244 G A - + MELAS Reported 24667782, 15870203, 19460299, 29161289, 20550934 4 0.0065 20 3249 G A - + KSS Reported [VUS] 11448301, 15477393, 29161289, 20550934, 33380464 0 0.0000 21 3250 T C - + MM / CPEO / cardiomyopathy Reported 1514779, 9003864, 12160969, 31965079, 14639582, 15870203, 15477393, 12729737, 15466077, 21364701, 29161289, 33259687, 28716227, 33380464, 10214753 0 0.0000 22 3251 A G - + MM / MELAS with chorea-ballism Cfrm [LP] 8265770, 8786060, 31965079, 29161289, 30837005, 38465286, 33380464 0 0.0000 23 3252 A G - + MELAS Cfrm [LP] 8111377, 7603510, 25192510, 31965079, 15477393 0 0.0000 288 3252 A T - + EXIT Reported 31965079, 23463613 0 0.0000 336 3253 T C + - Maternally inherited hypertension Reported 28679533, 29161289, 27544295, 34599203 7 0.0113 124 3254 C T + - CPEO / poss. hypertension factor Reported 15870203, 15477393, 20064630, 19778529, 29161289 18 0.0291 172 3254 C A - + Gestational Diabetes (GDM) Reported 10704697 33 0.0533 24 3254 C G - + MM Reported 9270605, 15477393, 29161289, 34599203 0 0.0000 116 3255 G A - + MERRF / KSS overlap Cfrm [LP] 31965079, 34969639, 12868503, 15477393, 20064630, 24134831 0 0.0000 25 3256 C T - + MELAS; possible atherosclerosis risk Cfrm [LP] 8254046, 7804130, 7599217, 9744809, 16483543, 31965079, 12972383, 15477393, 18165269, 20064630, 19941338, 16384802, 10953207, 19718780, 23376095, 28951770, 29670672, 23395464, 23874496, 32167396, 23056349 0 0.0000 26 3258 T C - + MELAS / Myopathy Cfrm [LP] 11335700, 23847141, 12798797, 15870203, 15477393 1 0.0016 27 3260 A G - + MMC / MELAS Cfrm [LP] 8132749, 8210299, 1677065, 7599217, 9744809, 8941275, 31965079, 33763872, 15477393, 18165269, 18647627, 20064630, 32167396, 24656211, 20965148, 19036942, 16141288, 19631764 0 0.0000 484 3261 A G + - Essential hypertension Reported 35657541 7 0.0113 28 3264 T C - + DM Reported 9203451, 15477393, 29161289 0 0.0000 29 3271 T C - + MELAS / DM / MERRF-like Cfrm [P] 1932147, 8280119, 8482977, 7684581, 7599217, 7603510, 7603512, 9455930, 9766710, 9744809, 10675533, 16120315, 21944974, 25192510, 31965079, 33763872, 12609508, 12527767, 15794182, 15870203, 15477393, 12729737, 18165269, 19370763, 20064630, 20972245, 24153443, 21364701, 29161289, 32167396, 11404119, 16006433, 25680467, 36769001, 31665838, 23257519, 29666206, 38465286, 10214753 0 0.0000 30 3273 T : - + PEM / retinal dystrophy in MELAS Cfrm [VUS*] 7854527, 30701423 0 0.0000 32 3273 T C - + Ocular myopathy Reported 11404120, 29161289 0 0.0000 469 3274 AC : - + Encephalomyopathy with proteinuric kidney disease Reported 36404555 0 0.0000 265 3274 A G - + Neuropsychiatric syndrome + cataract Reported [VUS] 31965079, 16384802, 11723298, 24931247 0 0.0000 358 3275 C T + - Metabolic syndrome and polycystic ovary syndrome / LHON Reported 31965079, 29155328, 30194987, 28027978, 33552719, 34053002, 34120304 3 0.0048 33 3275 C A + - LHON Reported 10612844, 31965079, 15477393, 29161289 3 0.0048 246 3277 G A + - Poss. hypertension factor Reported 31965079, 19778529 40 0.0646 247 3278 T C + - Poss. hypertension factor Reported 31965079, 19778529, 24448545 16 0.0259 34 3280 A G - + Myopathy Cfrm [VUS*] 11335700, 12402350, 12798797, 15870203, 15477393, 20064630 0 0.0000 342 3283 G A - + Late onset ocular myopathy Reported 17363246 0 0.0000 156 3287 C A - + Encephalomyopathy Reported 15670724, 19718780 0 0.0000 35 3288 A G - + Myopathy Reported [VUS] 10402027, 31965079, 34969639, 15477393, 23631826, 33380464, 23920046 0 0.0000 248 3290 T C + - Poss. hypertension factor Reported 31965079, 19778529, 29161289, 32167396, 33380464 132 0.2133 36 3291 T C - + MELAS / Myopathy / Deafness+Cognitive Impairment Cfrm [LP] 7520241, 7603510, 31965079, 10899447, 15870203, 15477393, 18165269, 18977334, 20064630, 22471645, 20943236, 21863273, 24338029, 29161289, 23273904, 32167396, 22538251, 36769001 0 0.0000 37 3302 A G - + MM Cfrm [LP] 8366098, 7635294, 31965079, 16050991, 15477393, 7735877, 17130166, 19370763, 20064630, 29161289, 26741492, 15351426, 28716227, 34991096, 35998911 0 0.0000 38 3303 C T + + MMC Cfrm [LP] 7906985, 9841711, 10431114, 23847141, 31965079, 12609508, 15477393, 12729737, 16337222, 20064630, 20226758, 21364701, 29161289, 32167396, 11271374, 23258140, 11768589, 15351426, 30404982, 33013660, 32348839, 10214753 0 0.0000 225 3308 T G M1Term + + Sudden Infant Death Reported 12160969 6 0.0097 1 3308 T C M1T - + MELAS / DEAF enhancer / hypertension / LVNC / putative LHON Reported - possibly synergistic; hg L1b and A2i marker 9299504, 10371545, 10521313, 12160969, 10519336, 10070626, 14960712, 15972314, 10924280, 18194667, 21457906, 22777272, 21625124, 21968326, 22777278, 29987491 427 0.6900 167 3310 C T P2S + + Diabetes / HCM Reported 33420243, 16828917, 15977098, 12610069, 29987491, 28754700, 32652755 13 0.0210 2 3316 G A A4T + - Diabetes / LHON / PEO / vascular dementia Reported; hg D1 D2 M33 R30 marker 40181542, 9384601, 10395242, 10520236, 12436196, 10636741, 11238687, 15972314, 16409568, 8858117, 10704697, 11961525, 15338331, 16477364, 16331560, 16414144, 22949535, 29987491, 19199242, 29387390, 29464373 593 0.9583 324 3335 T C I10T + - LHON Reported 27177320 63 0.1018 357 3336 T C I10I - + Carotid atherosclerosis risk Reported 28951770, 29670672, 23874496 234 0.3781 248 3337 G A V11M + - Cardiomyopathy Reported - possibly synergistic 18502698, 29987491 100 0.1616 185 3340 C T P12S + - Encephaloneuromyopathy Reported 15465027, 29987491, 32652755 3 0.0048 550 3365 T C L20P - + EXIT Reported 25626417 0 0.0000 130 3376 G A E24K + + LHON MELAS overlap Cfrm [VUS*] 15657614, 22079202, 20301353 0 0.0000 220 3380 G A R25Q - + MELAS Reported [VUS] 18590963, 36431069 2 0.0032 312 3388 C A L28M nr nr Materally Inherited Nonsyndromic Deafness Reported 22241583 30 0.0485 325 3391 G A G29S + - LHON Reported 27177320 55 0.0889 3 3394 T C Y30H + - LHON / Diabetes / CPTdeficiency / high altitude adaptation Reported [VUS] -population dependent; hg M9 marker 8680405, 1634041, 1417830, 1442494, 7599217, 7635294, 7603534, 8728705, 10520236, 18679013, 19324017, 20728388, 22517755, 19043581, 23563965, 22233893, 24002810, 27498855, 29444077, 29997041, 33420243, 33763872, 15972314, 16168441, 10704697, 18428021, 17406640, 17320116, 15338331, 21457906, 21694444, 16331560, 16414144, 27177320, 29987491, 30597069, 19199242, 29387390, 27465874, 23350576, 32887465, 11853713, 33840063, 29996615, 8645285, 23091534, 35801081 822 1.3283 245 3395 A G Y30C + + LHON / HCM with hearing loss Reported 21144833, 23847141, 16060290, 20643099, 28139165, 23301511, 32011699, 32652755, 36431069, 36827238 29 0.0469 252 3396 T C Y30Y + - NSHL / MIDD Reported / Unclear 8728705, 17336924 475 0.7676 4 3397 A G M31V + - ADPD / possibly LVNC-cardiomyopathy associated / resistance to high altitude pulmonary edema Reported 8104867, 7599217, 8741876, 16523671, 19043581, 21263444, 27498855, 15972314, 20211276, 21457906, 29987491 171 0.2763 195 3398 T C M31T + - DMDF+HCM / GDM / possibly LVNC cardiomyopathy-associated Reported 7599217, 8723687, 10704697, 20211276, 10894993 300 0.4848 196 3399 A T M31I + - Gestational Diabetes (GDM) Reported 10704697 41 0.0663 259 3407 G A R34H + - HCM / Muscle involvement Conflicting reports 16266762, 17482693, 22258525, 36431069 1 0.0016 186 3418 A G N38D + - AMegL Reported 18368068, 36431069 1 0.0016 172 3421 G A V39I + - MIDD Reported 16949108, 29987491 82 0.1325 559 3437 G A G44E - + Mitochondrial myopathy, EXIT Reported 28716227 0 0.0000 5 3460 G A A52T + + LHON Cfrm [P] 8680405, 1732158, 1928099, 1734726, 7901141, 1674640, 1550131, 8213820, 1444915, 8270249, 8024249, 1959619, 8401538, 8071952, 8496715, 8195807, 7853025, 7770132, 7611298, 7635294, 7603534, 7924787, 7821467, 7710535, 7629530, 7977345, 7735876, 7760326, 7599218, 9012411, 8659512, 8571959, 10976107, 9302261, 9412783, 9561832, 9150158, 9852675, 10426140, 10520236, 8755941, 10426138, 10939569, 11741983, 12205655, 11074292, 15638829, 12446713, 16083845, 15033723, 16523671, 16532388, 16380918, 17886296, 18216301, 18674747, 17652639, 11339587, 20471050, 21253496, 11001192, 19710181, 19525327, 15883259, 21788663, 21810891, 20628600, 16083844, 22079202, 18235013, 20491810, 15342361, 22410442, 21859767, 15629832, 15629831, 21887510, 23297368, 24369379, 23847141, 25192510, 25053773, 25338955, 20301353, 27847334, 28040497, 28233183, 28481993, 26404827, 29253894, 29444077, 27071925, 12807863, 30081212, 28991104, 28994349, 30369864, 34168607, 34969639, 37733737, 37587338, 37878684, 14750573, 12711217, 14671420, 15126312, 15060117, 12409182, 14748908, 16120372, 11523562, 8931573, 16050984, 8941270, 15972314, 17003408, 17479363, 8556281, 12023431, 18214789, 18402672, 15466086, 18320530, 11331900, 18070226, 15282189, 16829155, 17406640, 16972023, 15728653, 18647627, 17434142, 10545708, 16564802, 19370763, 19319978, 11329546, 11124301, 17942074, 20064630, 20123042, 8600429, 19268652, 20599858, 20211598, 20454697, 20943885, 21067478, 20809775, 20232220, 17292333, 19098324, 19255150, 18806273, 19800080, 20053576, 15720387, 21457906, 21694444, 21397051, 15282179, 26605371, 27746671, 27177320, 27787713, 29983856, 25909222, 29587845, 29991444, 30591017, 29426449, 28392196, 30572950, 31040363, 30053855, 11906302, 30304398, 29387390, 11579587, 16738010, 31817256, 29189152, 29980632, 31584786, 32219779, 31932089, 32704028, 33552719, 33706792, 28314831, 17122117, 12518276, 32991883, 33159657, 32991388, 32220313, 33584522, 32887465, 33911213, 11853713, 32504279, 34573281, 34122299, 32105823, 28716668, 33477675, 10608675, 11937919, 34673906, 34915201, 34670133, 8742999, 35383288, 18562849, 12638016, 24508359, 33095398, 35623556, 35858578, 36361994, 36565700, 35778412, 36827238, 37038312, 37737178, 37988592, 38346855, 37628761 31 0.0501 537 3461 C T A52V nr nr LHON Reported 32355048 0 0.0000 287 3472 T C F56L + + LHON Reported 24800637, 27177320, 27449621, 28870561, 28992945, 28992946, 28862604 5 0.0081 162 3481 G A E59K - + MELAS / Progressive Encephalomyopathy Cfrm [LP] 17535832, 18504678, 18977334, 31665838, 37038312 0 0.0000 595 3482 A G E59G - + MELAS/LS overlap Reported 33300189 0 0.0000 326 3488 T C L61P + - LHON Reported 27177320 1 0.0016 6 3496 G T A64S + - LHON Reported / Secondary 10520236, 15972314, 29987491 11 0.0178 7 3497 C T A64V + - LHON Reported / Secondary 10520236, 15972314, 16477364, 29987491, 29387390, 11853713 213 0.3442 527 3502 T C S66P - + MELAS / MM w reversible COX deficiency Reported [VUS] 32652755 0 0.0000 507 3548 T C I81T nr nr Possible LHON helper (one 14484 patient) Reported 11853713 36 0.0582 327 3551 C T A82V + - LHON Reported 27177320 0 0.0000 457 3552 T A A82A + - Resistance to high altitude pulmonary edema (HAPE) / matrilineal hypertension Reported; hg C marker 29200319 2155 3.4824 402 3571 C T L89F nr nr Possible LHON helper mut / idiopathic epilepsy Reported 29387390, 22553750, 11853713, 33365557 139 0.2246 528 3571 C : frameshift nr nr Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Cfrm [LP] 32652755 0 0.0000 328 3632 C T S109F + - LHON Reported 27177320, 34177762 0 0.0000 323 3634 A G S110G + - LHON Reported 27613247, 29467576 0 0.0000 8 3635 G A S110N + - LHON Cfrm [LP] 11479733, 25194554, 20301353, 29253894, 34156427, 15972314, 19497304, 21074518, 19527690, 23304069, 27177320, 29387390, 31817256, 32652755, 33417421, 35905669, 38346855, 39147111 9 0.0145 212 3644 T C V113A nr nr BD-associated Reported 15533721, 19290059, 23563965, 29987491 229 0.3701 381 3667 T G W121G + - Peripheral neuropathy of T2 diabetes Reported 24456990 0 0.0000 544 3685 T C Y127H - + Leigh Syndrome Reported [VUS] 35217561 0 0.0000 189 3688 G A A128T + - Leigh Syndrome Cfrm [LP] 18977334, 24642831, 37038312 0 0.0000 120 3697 G A G131S + + MELAS / Leigh Syndrome / LDYT / BSN Cfrm [LP] 20301353, 23010433, 15466014, 15972314, 18402672, 16969869, 18977334, 17562939, 21457906, 24830958, 21364701, 30095618, 30623604, 30461153, 31996177, 28429146, 26741492, 27338358, 34802141, 37038312 0 0.0000 141 3700 G A A132T + - LHON Cfrm [VUS*] 12150954, 22879922, 20301353, 29253894, 29987491, 30128709 3 0.0048 329 3713 T C V136A + - LHON Reported 27177320 0 0.0000 268 3733 G C E143Q - + LHON Reported 22879922 0 0.0000 131 3733 G A E143K + + LHON Cfrm [VUS*] 15505787, 22879922, 20301353, 29253894, 19098324, 21457906, 27177320, 29387390, 17122117 2 0.0032 579 3734 A G E143G + - LHON Reported [VUS] 35892476, 38582886 1 0.0016 253 3736 G A V144I nr nr LHON Reported 20643099, 29987491 108 0.1745 284 3745 G A A147T + + LHON / high altitude variant Reported / Population-dependent 24002810, 29444077, 29987491, 27119776 120 0.1939 417 3761 C A S152Term - + Deafness w relapsing/remitting neurological symptoms Reported [VUS] 32158465 0 0.0000 330 3769 C G L155V + - LHON Reported 27177320 0 0.0000 331 3781 T C S159P + - LHON Reported 27177320 0 0.0000 80 3796 A G T164A - + Adult-Onset Dystonia Reported 12756609, 15972314, 18427623, 21457906, 29987491 291 0.4702 177 3833 T A L176Q + - PEG Reported 18246027, 29987491 0 0.0000 546 3861 A C W185C - + SNHL + neurodevelopmental delay Reported 27155156 0 0.0000 249 3866 T C I187T nr nr LHON + limb claudication Reported / possibly synergistic 15896721, 20176558, 27177320, 29987491, 29387390, 20197120, 32723871 172 0.2779 181 3890 G A R195Q - + Progressive Encephalomyopathy / Leigh Syndrome / Optic Atrophy Cfrm [LP] 23246842, 23847141, 29253894, 18504678, 27798429, 30095618, 29987491, 34390870 1 0.0016 339 3902 ACCTTGC GCAAGGT DLA-GKV - + EXIT+myalgia / severe LA+cardiac / 3-MGA aciduria / nephropathy+deafness+diabetes Cfrm [LP] 10775530, 16492986, 27290639, 34135385, 35234296, 2125637 0 0.0000 332 3919 T C S205P + - LHON Reported 27177320 0 0.0000 400 3945 C A I213M nr nr Leigh-like phenotype Reported 28862604 0 0.0000 121 3946 G A E214K + + MELAS Cfrm [LP] 29253894, 15466014, 15972314, 18402672, 21457906, 16849371, 21364701, 31996177, 28429146, 26741492, 31665838, 38465286 1 0.0016 122 3949 T C Y215H - + MELAS Reported [VUS] 29253894, 15466014, 15972314, 18402672, 21457906, 16849371, 21364701 1 0.0016 589 3955 G A A217T - + Leigh Syndrome Reported 34656796 0 0.0000 333 3958 G A G218S + - LHON Reported 27177320, 33706792 0 0.0000 280 3959 G A G218D nr nr MELAS Reported 23834081 0 0.0000 281 3995 A G N230S nr nr MELAS Reported 23834081, 29987491, 29756269 20 0.0323 334 4081 T C F259L + - LHON Reported 27177320 1 0.0016 508 4115 T C F270S nr nr Possible LHON helper (one 11778 patient) Reported 11853713, 34060999 0 0.0000 335 4123 A T I273F + - LHON Reported 27177320 0 0.0000 242 4132 G A A276T + - NAION-associated Reported [VUS] 17454741, 29987491 9 0.0145 565 4135 T C Y277H - + LHON Reported 27 0.0436 9 4136 A G Y277C + - LHON Reported - possibly synergistic 2018041, 7599217, 7635294, 7977345, 7760326, 9150158, 18216301, 29253894, 8751850, 15972314, 21457906, 19616643, 35699829 74 0.1196 410 4142 G T R279L - + Leigh Syndrome Reported 0 0.0000 271 4142 G A R279Q - + Developmental delay, seizure, hypotonia Reported [VUS] 23463613, 29987491, 32652755 0 0.0000 10 4160 T C L285P + - LHON / LHON plus Reported - possibly synergistic 2018041, 7770132, 7635294, 7821467, 7760326, 27127184, 20301353, 29253894, 34168607, 15972314, 18647627, 21457906, 22258525, 29249004, 28455970, 34670133, 8742999, 19616643, 35699829, 37737178 1 0.0016 336 4163 T C M286T + - LHON Reported 27177320 1 0.0016 11 4171 C A L289M + + LHON / Leigh-like phenotype Cfrm [VUS*] 12112111, 20491810, 22879922, 24884847, 20301353, 29253894, 15972314, 19555656, 21457906, 29987491, 32045392, 32652755, 35104579, 34670133, 19616643 2 0.0032 547 4175 G A W290Term - + EXIT Reported 25626417 0 0.0000 12 4216 T C Y304H + - LHON / Insulin Resistance /possible adaptive high altitude variant / miscarriage Conflicting reports 8680405, 1634041, 1900003, 1463007, 8071952, 7599217, 7770132, 7635294, 7977345, 7814218, 7599218, 7763260, 8741876, 9150158, 9832034, 9719386, 8755941, 11935318, 12150954, 15786469, 16759180, 11339587, 23464625, 24002810, 27498855, 29444077, 30369864, 8899049, 8593537, 16050984, 15972314, 10737123, 16132471, 15338331, 10545708, 10894993, 10424809, 21067478, 21457906, 29987491, 30831606, 29387390, 20197120, 28696810, 32887465, 11853713, 34573281, 29996615, 36701026, 34060999 6423 10.3793 245 4263 A G + - Maternally inherited essential hypertension Reported 21134354, 19778529, 19895710, 21454794, 33380464 3 0.0048 106 4267 A G - + MM / CPEO Reported 12207935, 15477393, 17965958, 19718780 0 0.0000 488 4268 T C + - Maternally inherited hearing loss Reported 35071519 0 0.0000 39 4269 A G - + FICP Reported [VUS] 7518448, 1632786, 12655007, 9466989, 15477393, 15005711, 11000270, 20064630, 22781547, 33380464 1 0.0016 40 4274 T C - + CPEO / Motor Neuron Disease Reported 9339712, 17886296, 12655007, 16358336, 15477393, 11017193 0 0.0000 249 4277 T C + - HCM / Poss. hypertension factor Reported 31965079, 19778529, 21945886 20 0.0323 328 4279 A G - + Myoclonic epilepsy Reported 23601850 0 0.0000 268 4281 A G - + Recurrent Myoglobinuria Reported 21324494 1 0.0016 325 4282 G A - + CPEO Plus Reported 25034047 0 0.0000 41 4284 G A - + Varied familial presentation / spastic paraparesis / MERRF-like Reported [VUS] 11782991, 29253894, 31965079, 12655007, 15477393, 18977334, 22781547, 21766266 2 0.0032 42 4285 T C - + CPEO Reported 8607814, 10611124, 34969639, 12655007, 15477393, 11017193, 22781547 0 0.0000 293 4289 T C - + Retinopathy+diabetes+dysphagia+cerebral atrophy Reported 23696415 0 0.0000 115 4290 T C + + Progressive Encephalopathy / PEO,myopathy Reported 21533077, 31965079, 15121771, 15477393, 18977334 0 0.0000 119 4291 T C + - Hypomagnesemic Metabolic Syndrome / Gitelman-like syndrome Reported [VUS] 15498972, 34607911 0 0.0000 43 4295 A G + + MHCM / Maternally inherited hypertension / Maternally inherited deafness Reported [VUS] 8889580, 11406419, 16947981, 19043581, 21263444, 29253894, 31965079, 12655007, 15477393, 20064630, 18177739, 19778529, 22241583, 33398350, 34991096, 37789629 113 0.1826 303 4296 G A - + Leigh Syndrome Reported [VUS] 31965079, 21982779, 23395828, 23288206 0 0.0000 44 4298 G A - + CPEO / MS Cfrm [VUS*] 9473477, 17886296, 31965079, 12655007, 16120360, 15477393, 11017193, 10611123, 20064630, 19718780, 20164463 0 0.0000 45 4300 A G + + MICM Cfrm [LP] 7646516, 10065021, 23847141, 34146515, 12711217, 12655007, 12767666, 15477393, 20064630, 10334428, 39639347, 39791528 0 0.0000 459 4301 A T nr nr Patient with MELAS Reported 32504279 1 0.0016 231 4302 A G - + CPEO Reported 20149659 0 0.0000 240 4308 G A - + CPEO Cfrm [VUS*] 31965079, 21292040, 20884012 0 0.0000 46 4309 G A - + CPEO Reported 9808249, 12655007, 15477393, 37038312 0 0.0000 250 4314 T C + - Poss. hypertension factor Reported 31965079, 19778529 48 0.0776 241 4316 A G + + HCM with hearing loss / poss. hypertension factor Reported 21144833, 23847141, 31965079, 23301511 30 0.0485 47 4317 A G + - FICP / poss. Hypertension / DEAF factor Reported 1433821, 1978914, 7603519, 23774020, 23847141, 29253894, 31965079, 12655007, 9466989, 15477393, 19778529, 29348176, 30272361, 32169613, 33380464 48 0.0776 369 4317 A : nr nr Ptosis, deafness, stroke-like episodes Reported 23847141, 31965079, 18384291, 23463613 16 0.0259 48 4320 C T - + Mitochondrial Encephalocardiomyopathy Reported 7488201, 31965079, 12655007, 15477393, 20064630, 33380464 10 0.0162 363 4322 C : + - mtDNA deletion and depletion with dilated cardiomyopathy Reported 29481798 0 0.0000 318 4322 C CC - + Idiopathic Dilated Cardiomopathy Reported 18043288 3 0.0048 391 4327 T C - + Ataxia+, with RRF and COX deficiency Reported 31965079, 32419253 0 0.0000 49 4332 G A - + Encephalopathy / MELAS Cfrm [VUS*] 11335700, 11171912, 20064630, 19718780 0 0.0000 50 4336 T C + + ADPD / Hearing Loss & Migraine / autism spectrum / intellectual disability Reported [B] 8004796, 8104867, 7624338, 8741876, 10680807, 8848229, 11335700, 15247418, 9004131, 16947981, 11424923, 15786469, 16154228, 16773565, 15975594, 19076426, 30369864, 31965079, 10953187, 8723226, 15292920, 19703591, 10424809, 17174475, 29340697, 32337946, 37845428 542 0.8758 251 4343 A G + - Poss. hypertension factor Reported 31965079, 19778529 55 0.0889 478 4344 T C - + Developmental delay Reported 38730005 0 0.0000 252 4345 C T + - Poss. hypertension factor Reported 19778529 5 0.0081 253 4353 T C + - Poss. hypertension factor Reported 31965079, 19778529 37 0.0598 217 4363 T C + - Metabolic syndrome and polycystic ovary syndrome / possibly associated w DEAF + RP + dev delay / hypertension / LHON Reported 12406974, 27498855, 31965079, 19778529, 29155328, 30194987, 34053002, 34120304 54 0.0873 51 4369 A AA - + Myopathy Reported [VUS] 10996779, 19718780, 17560547 0 0.0000 289 4372 C T - + Suspected mito disease Reported [VUS] 31965079, 23463613 0 0.0000 205 4373 T C + - Tic disorder / possibly LVNC-associated Reported 31965079, 20211276, 33289513 11 0.0178 458 4375 C T nr nr Matrilineal hypertension risk factor Reported 29200319 9 0.0145 135 4381 A G + - LHON Reported 31965079, 17003408 4 0.0065 314 4386 T C + - Heart disease / myopathy / hypertension Conflicting reports 26782414, 31965079, 16337222, 24470521 189 0.3054 254 4387 C A + - Poss. hypertension factor Reported 19778529 2 0.0032 255 4388 A G + - Poss. hypertension factor; intellectual disability Reported 31965079, 19778529, 29340697 67 0.1083 256 4392 C T + - Poss. hypertension factor Reported 19778529 19 0.0307 257 4395 A G + - Poss. hypertension factor Reported 31965079, 19778529 27 0.0436 175 4401 A G + - Hypertension+Ventricular Hypertrophy Reported 19546379, 18701880, 31504769, 33380464 9 0.0145 324 4403 G A - + Mitochondrial myopathy Reported 24711008 0 0.0000 52 4409 T C - + Mitochondrial myopathy Reported [VUS] 9633749, 14648149, 19941338, 23376095, 23838278, 18835817 0 0.0000 258 4410 C A + - Poss. hypertension factor Reported 19778529 0 0.0000 367 4412 G A - + Seizures with myopathy & retinopathy Reported 31022467 0 0.0000 386 4414 T C - + Progressive external ophthalmoplegia and myopathy Reported 31488384 0 0.0000 186 4415 A G - + EXIT & APS2 Reported 19460300 0 0.0000 128 4435 A G + - LHON / LHON modulator / hypertension; autism spectrum; intellectual disability / hearing loss Reported 16431939, 19022198, 31965079, 16060290, 19398658, 17123466, 19778529, 21694735, 29222331, 29340697, 27214402, 32169613, 29211511, 33552719, 34053002, 34755158, 34120304, 34991096 60 0.0970 290 4437 C T + - Hypotonia, seizure, muscle weakness, lactic acidosis, hearing loss Reported [VUS] 31965079, 23463613, 27214402 0 0.0000 366 4440 G A - + Mitochondrial myopathy Reported 29174468, 29472063, 29482911, 32970680, 29467576 0 0.0000 53 4450 G A - + Myopathy / MELAS / Leigh Syndrome / EXIT Cfrm [LP] 9384601, 11335700, 30739820, 30952460, 25468263 0 0.0000 399 4452 T C nr nr Reported in tic disorder patient Reported 33289513 123 0.1988 218 4454 T C + - Possible contributor to mito dysfunction / hypertension Reported 12406974, 31965079, 19778529 228 0.3684 259 4456 C T - + Poss. hypertension factor Reported 31965079, 19778529 5 0.0081 343 4467 C A - + Maternally inherited hypertension Reported 28596595 0 0.0000 454 4491 G A V8I + - High altitude pulmonary edema susceptibility Reported 31358833 991 1.6014 482 4516 G A G16D + - Possible LHON modulator Reported 31743754 0 0.0000 572 4580 G A M37M nr nr Protective factor for stroke risk (hg V) Reported 37793469 1062 1.7161 529 4611 A : M-Term nr nr Leigh Syndrome Reported [VUS] 32652755, 32414374 0 0.0000 240 4633 C G A55G + - LHON candidate Reported 2567271 0 0.0000 13 4640 C A I57M + - LHON / Epilepsy Reported 11479733, 16523671, 20301353, 15972314, 18676632, 21457906, 29987491, 21145289 242 0.3911 176 4648 T C F60S + - PEG Reported 18246027, 29987491 1 0.0016 194 4659 G A A64T + - possible PD risk factor / LHON Reported 1463007, 19076426, 31817256 103 0.1664 158 4681 T C L71P - + Leigh Syndrome Reported [VUS] 29253894, 16996290, 21457906, 16738010 1 0.0016 201 4769 A A M100M + - SZ-associated Reported 19290059 1175 1.8987 569 4810 G A W114Term - + EXIT with myalgia & ophthalmoplegia Cfrm [LP] 15781840 0 0.0000 566 4831 G A G121D - + Isolated myopathy Reported 37038312, 28070494 1 0.0016 169 4833 A G T122A + - Diabetes helper mutation AD, PD Reported 11095989, 18468491, 29987491, 11853713 636 1.0277 243 4852 T A L128Q + - LHON Reported 20454697 0 0.0000 315 4883 C T P138P + - Glaucoma Conflicting reports 27217714, 24448266 2802 4.5279 14 4917 A G N150D + - LHON / Insulin Resistance / AMD / NRTI-PN Reported 8680405, 1550131, 1900003, 8071952, 7599217, 7770132, 7635294, 7977345, 7599218, 9150158, 10936107, 16759180, 17684475, 11339587, 23563965, 8899049, 8593537, 16050984, 15972314, 10737123, 16132471, 18445251, 18461138, 10545708, 19383124, 21457906, 29987491, 23920046 3106 5.0191 509 4924 G T S152I nr nr Possible LHON helper (one 11778 patient) Reported 11853713 0 0.0000 432 4935 A G T156A - + Lipomatosis+EXIT Reported 23463613, 32419253, 29876471 0 0.0000 455 4944 A G I159V + - High altitude pulmonary edema susceptibility Reported 31358833 10 0.0162 510 4959 G A A164T nr nr Possible LHON helper (one 11778 patient) Reported 11853713 69 0.1115 590 4983 C T Q172Term nr nr Unspecified suspected mitochondrial disorder Reported [VUS] 0 0.0000 272 5001 A AA frameshift - + Developmental delay, seizure, cardiomyopathy, lactic acidosis Reported [VUS] 23463613, 23288206, 32652755 0 0.0000 368 5095 T C I209T nr nr Proximal muscle weakness and atrophy Reported 28187756 18 0.0291 279 5133 AA : frameshift nr nr Exercise intolerance (EXIT) Reported [VUS] 12192017, 16815877, 23376095, 19273755, 23838278 0 0.0000 425 5153 A G L228L nr nr Recurrent pregnancy loss Reported 28696810 351 0.5672 138 5178 C A L237M + + Longevity / Extraversion / diabetes / AMS protection / blood iron metabolism / correlation with myocardial infarction / atherosclerosis Reported 12391595, 10996007, 9449878, 11735027, 12782420, 11573146, 12375058, 15126279, 12384792, 16271520, 15211636, 15262184, 20555337, 19667492, 20306229, 21319252, 21385625, 18468491, 28951770, 29670672, 25834827, 29987491, 31488191 2783 4.4972 15 5244 G A G259S - + LHON Reported [VUS] 8680405, 1634041, 7770132, 7760326, 7599218, 20301353, 15972314, 21457906 0 0.0000 530 5367 ACCTCAATCACACTACTCC : frameshift nr nr Unspecified suspected mitochondrial disorder Reported [VUS] 32652755 0 0.0000 160 5452 C T T328M + - Progressive Encephalomyopathy Reported 15286228, 29987491 20 0.0323 17 5460 G T A331S + + AD Reported 1370613, 1352971, 8093052, 15972314, 19703591 0 0.0000 16 5460 G A A331T + + AD / PD / LHON Conflicting reports 1370613, 1463007, 1352971, 8093052, 8937782, 8723226, 15972314, 19703591, 29987491 4134 6.6803 357 5512 A G + - Maternally inherited hypertension Reported 27687549 5 0.0081 339 5513 G A - + Mitochondrial encephalomyopathy with RP Reported 29625105 1 0.0016 283 5514 A G + - Neonatal onset mito disease Reported 22638997, 31965079, 26741492 47 0.0759 54 5521 G A - + Mitochondrial myopathy Cfrm [LP] 9673981, 10611124, 23847141, 29253894, 31965079, 23841600, 31181796, 37038312 0 0.0000 329 5522 G A - + Mitochondrial myopathy Reported 23232693, 30937556 0 0.0000 192 5523 T G - + Leigh Syndrome Reported [VUS] 19349200, 23301511 0 0.0000 105 5532 G A - + Gastrointestinal Syndrome Reported [VUS] 29253894, 15054399, 19718780, 39380483 1 0.0016 55 5537 A AT - + Leigh Syndrome Cfrm [LP] 9266739, 10862082, 12776230, 31965079, 14681757, 20064630, 23920046 0 0.0000 330 5538 G A - + Encephalomyopathy Reported [VUS] 31965079, 20708751, 32504279 0 0.0000 56 5540 G A - + Encephalomyopathy / DEAF Reported [VUS] 10762520, 23847141, 31965079, 15126302 0 0.0000 294 5541 C T - + MELAS+stroke-like episodes and cortical blindness+MRI shows occipital lobe infarct Reported 23696415, 33208382, 26297375, 29467576, 37737178 0 0.0000 154 5543 T C - + Mitochondrial myopathy Reported [VUS] 31965079, 34969639, 11506394, 15670724, 21712854, 19718780, 19273755, 26469001, 32948797 0 0.0000 160 5545 C T - + HCM severe multisystem disorder Reported [VUS] 18337306, 39380483 0 0.0000 57 5549 G A - + DEMCHO / mitochondrial encephalomyopathy Reported [VUS] 7695240, 34276539 0 0.0000 279 5556 G A - + Combined OXPHOS defects Cfrm [LP] 19433277, 19809478, 27450679 0 0.0000 281 5556 G C - + Mito encephalomyopathy Reported 19744136 0 0.0000 400 5558 A G nr nr Reported in tic disorder patient / NSSNHL Reported [VUS] 33289513, 22567359 123 0.1988 193 5559 A G - + Leigh Syndrome Reported 31965079, 19349200, 23301511 0 0.0000 168 5567 T C - + Myopathy Reported 31965079, 18977334, 21364701 57 0.0921 173 5568 A G + - DEAF Reported 31965079, 15292920 16 0.0259 208 5587 T C + + LHON / possible DEAF modifier / MIDD / dilated cardiomyopathy / hypertension / tic disorder Reported 20153673, 28990081, 9344764, 30783460, 33289513, 25968158, 22538251, 33552719, 34023389, 34053002, 34120304, 34993838 39 0.0630 130 5591 G A - + Myopathy Reported [VUS+] 31965079, 16476954, 19718780, 29139113 0 0.0000 315 5592 A G + - Coronary Heart Disease Reported 16947981, 24470521 32 0.0517 401 5595 G A nr nr Reported in tic disorder patient Reported 33289513 0 0.0000 440 5601 C T + - Possible helper mutation in maternally inherited hypertension and in LHON Reported 24470521, 33289513, 25968158, 32169613, 29211511, 33552719, 31939618 596 0.9631 373 5610 G A - + Myopathy Reported [VUS] 25873012 0 0.0000 322 5613 T C - + CPEO Reported 27014581 0 0.0000 417 5618 T C nr nr Hearing loss patient Reported 31965079, 17085680, 32169613 18 0.0291 58 5628 T C - + CPEO / DEAF enhancer / gout / tic disorder Reported 11404121, 16947981, 31965079, 17434445, 29976239, 32970680, 33289513 134 0.2165 374 5631 G A - + Myopathy Reported [VUS] 29253894, 25873012 1 0.0016 238 5636 T C - + PEO Reported 20813205 0 0.0000 418 5641 T C nr nr Hearing loss patient Reported 32169613 9 0.0145 151 5650 G A - + Myopathy Cfrm [LP] 17825557, 25652200, 29253894, 27626666, 30250142, 34050192, 11715067, 19718780, 32970680, 31181796 1 0.0016 353 5652 C G + - Dilated Cardiomyopathy Reported 9344764 0 0.0000 148 5655 T C + - DEAF enhancer / Hypertension risk Reported 10371545, 31965079, 14960712, 27544295, 27161322, 25968158, 32169613, 22538251, 34991096, 33380464 396 0.6399 326 5658 T C - + Mitochondrial myopathy Reported 23375258 0 0.0000 370 5667 G A nr nr Ptosis Reported [VUS] 23847141 0 0.0000 454 5669 G A - + Sporadic CPEO Reported 32869280 0 0.0000 481 5670 A G + - Progressive mitochondrial myopathy Reported 39173541 0 0.0000 392 5672 T C - + EXIT+myalgia+CPEO with RRF Reported 31965079, 32419253 0 0.0000 295 5690 A G - + CPEO+ptosis+proximal myopathy Cfrm [LP] 23696415, 23847141, 31181796 0 0.0000 59 5692 T C - + CPEO / MM Reported [VUS] 8129854, 7980504, 9384601, 11335700 1 0.0016 176 5693 T C + - Encephalomyopathy Reported 31965079, 15752774 0 0.0000 60 5698 G A - + CPEO / MM Reported 11335700, 18977334, 15564038, 20064630, 39175050 1 0.0016 455 5702 A : - + Sporadic CPEO Reported 32869280, 39175050 0 0.0000 485 5702 A G - + External ophthalmoplegia+ptosis Reported [VUS] 0 0.0000 61 5703 G A - + CPEO / MM Cfrm [P] 8254046, 9372914, 10332045, 26328603, 14518831, 20064630, 19718780, 31268906, 30897601, 32419253, 32970680, 38465286 1 0.0016 486 5708 C T + + Mitochondrial myopathy Reported 39175050 0 0.0000 320 5709 T C - + Ophthalmoparesis+respiratory impairment Reported 22189266, 39175050 0 0.0000 419 5715 A G nr nr Hearing loss patient Reported 32169613 13 0.0210 138 5728 T C - + Multiorgan failure / myopathy Cfrm [LP] 23847141, 31965079, 16908752, 31026515 0 0.0000 402 5774 T C nr nr Reported in tic disorder patient Reported 33289513 66 0.1067 140 5780 G A - + SNHL Reported 12802679, 31965079 24 0.0388 136 5783 G A - + Myopathy / deafness / gout / tic disorder Reported 31965079, 16955414, 29976239, 33289513, 36039763 43 0.0695 464 5789 T C - + Late-onset NARP Reported 35252560 0 0.0000 420 5794 T C nr nr Hearing loss/ tic disorder Reported 31965079, 15338331, 30430429, 33289513, 32169613 8 0.0129 158 5802 T C + - DEAF1555 increased penetrance / obesity risk Reported 31965079, 18386806, 19818876, 31868206, 32010935, 32003422, 22538251, 32400865 3 0.0048 421 5809 G A nr nr Hearing loss patient Reported 31965079, 32169613 1 0.0016 62 5814 T C - + Encephalopathy / gout Reported [LB] 9384601, 8829635, 11335700, 9185178, 16947981, 16172508, 31965079, 16132471, 18977334, 20064630, 29976239, 17241783 223 0.3604 149 5816 A G + - Progressive Dystonia Reported [VUS] 17886296, 25652200, 17724295, 37771542 0 0.0000 404 5819 T C nr nr Reported in tic disorder patient Reported 33289513 0 0.0000 462 5820 C A + - MERRF Reported 34433719 0 0.0000 194 5821 G A + - DEAF helper mut. Reported 23563965, 31965079, 16364244, 16955413, 19818876, 22538251 374 0.6044 422 5822 G A nr nr Hearing loss patient Reported 31965079, 32169613 6 0.0097 460 5835 G A nr nr Patient with proximal myopathy Reported 18384291, 32504279, 30643656, 31355027 1 0.0016 114 5843 A G + - FSGS / Mitochondrial Cytopathy Reported 31965079, 14598342 469 0.7579 63 5874 T C - + EXIT Reported [VUS] 11071502, 6095966 0 0.0000 461 5877 C T - + CPEO Reported [VUS] 11594340 0 0.0000 479 5888 T : - + CPEO Reported [VUS] 11756614 0 0.0000 379 5889 A G - + Multisystem mitochondrial disorder Reported 31965079, 33279411 0 0.0000 591 5906 G A M1M - + MELAS/Leigh overlap Syndrome Reported 39460813 0 0.0000 101 5911 C T A3V + - Prostate Cancer Reported 15647368 260 0.4201 102 5913 G A D4N + - Prostate Cancer / hypertension Reported 15647368, 25701779, 22949535 549 0.8872 18 5920 G A W6Term - + Myoglobinuria / EXIT Cfrm [LP] 10980727, 14520667, 11506394, 11782982 0 0.0000 103 5935 A G N11S + - Prostate Cancer Reported 15647368 1 0.0016 104 5973 G A A24T + - Prostate Cancer Reported 15647368 15 0.0242 490 6020 C A A39A - + Possible association with sepsis Reported 33504965 0 0.0000 137 6020 CGAGC : AELGQ-AGPATerm - + Motor Neuron Disease Reported 9450776 0 0.0000 105 6081 G A A60T + - Prostate Cancer Reported 15647368 1 0.0016 531 6145 G A W81Term nr nr Unspecified suspected mitochondrial disorder Reported [VUS] 32652755 0 0.0000 106 6150 G A V83I + - Prostate Cancer / POAG (primary open-angle glaucoma) risk factor Reported 29610859, 15647368, 27217714 252 0.4072 96 6253 T C M117T + - Prostate Cancer / enriched in POAG cohort Reported 16892079, 15647368, 27217714 594 0.9599 98 6261 G A A120T + - Prostate Cancer / LHON Reported 16892079, 15647368, 17003408, 31817256 500 0.8080 107 6267 G A A122T + - Prostate Cancer Reported 15647368 96 0.1551 108 6285 G A V128I + - Prostate Cancer Reported 15647368 130 0.2101 396 6307 A G N135S . + Asthenozoospermic infertility Reported 23712756 3 0.0048 184 6328 C T S142F + - EXIT (Exercise Intolerance) Reported [VUS] 16284789, 21457906 0 0.0000 97 6340 C T T146I + - Prostate Cancer Reported 16892079, 15647368 99 0.1600 491 6367 T C V155A - + Possible association with sepsis Reported 33504965 23 0.0372 395 6459 T C W186R + - Sepsis susceptibility Reported 30207067, 30334343 0 0.0000 412 6474 A G T191A + - Maternally inherited childhood epilepsy and ataxia Reported 30831263 0 0.0000 109 6480 G A V193I + - Prostate Cancer / enriched in POAG cohort Reported 19022198, 15647368, 21457906, 27217714 156 0.2521 19 6489 C A L196I - + CO1 deficiency with epilepsia partialis continua Reported 12140182, 29253894, 21457906 90 0.1454 532 6526 T C M208T nr nr Developmental delay, hypotonia, myopathy, failure to thrive Reported [VUS] 32652755 0 0.0000 492 6544 A C N214T - + Possible association with sepsis Reported 33504965 0 0.0000 409 6547 T C L215P - + Leigh Syndrome Reported 2025303, 2124116, 38465286 4 0.0065 411 6579 G A G226Term - + Leigh Syndrome Reported 30743023 0 0.0000 267 6597 C A Q232K - + MELAS-like syndrome Reported 22832341 0 0.0000 493 6649 C T P249L - + Possible association with sepsis Reported 33504965 0 0.0000 99 6663 A G I254V + - Prostate Cancer Reported 16892079, 15647368, 27217714 198 0.3200 190 6698 A : K-K_frameshift - + Myopathy Reported 18977334 0 0.0000 123 6708 G A G269Term - + MM & Rhabdomyolysis Reported 15751226 0 0.0000 90 6721 T C M273T - + Acquired Idiopathic Sideroblastic Anemia Reported [VUS] 9389715, 21457906 0 0.0000 91 6742 T C I280T - + Acquired Idiopathic Sideroblastic Anemia Reported [VUS] 9389715, 21457906 0 0.0000 374 6860 A C K319N + - Dilated Cardiomyopathy Reported 9344764 0 0.0000 20 6930 G A G343Term - + Multisystem Disorder Cfrm [LP] 10441567, 20547844, 11595737 0 0.0000 183 6955 G A G351D + + Mild EXIT and MR Reported 18484665 1 0.0016 321 6962 G A L353L + - Possible helper variant for 15927A Reported 24470521 1523 2.4611 216 7023 G A V374M - + MELAS-like syndrome Reported 19568996 1 0.0016 110 7041 G A V380I + - Prostate Cancer Reported 15647368 6 0.0097 494 7065 G A A388T - + Possible association with sepsis Reported 33504965 0 0.0000 111 7080 T C F393L + - Prostate Cancer Reported 15647368 68 0.1099 112 7083 A G I394V + - Prostate Cancer Reported 15647368 16 0.0259 113 7158 A G I419V + - Prostate Cancer Reported 15647368 57 0.0921 533 7222 A G Y440C nr nr Mitochondrial myopathy Reported [VUS] 32652755, 22632780 0 0.0000 489 7299 A G M466V + - LHON Reported 32358433 87 0.1406 114 7305 A C M468L + - Prostate Cancer Reported 15647368 0 0.0000 495 7379 G A L492L - + Possible association with sepsis Reported 33504965 23 0.0372 282 7402 C : frameshift - + Isolated complex IV deficiency Reported 24667782 0 0.0000 87 7443 A G Term514G + - DEAF Reported [VUS] 10577941, 16361254, 10739773, 20064630 1 0.0016 21 7444 G A Term514K + - LHON / SNHL / DEAF modulator Reported [LB] 8680405, 1732158, 1322638, 7901141, 8240356, 8060346, 7770132, 7603534, 7710535, 7599218, 10520236, 10803467, 12749053, 16895436, 29253894, 10577941, 16152638, 16500624, 16528519, 16361254, 17698030, 10739773, 19026397, 17406640, 19267350, 19371214, 17659260, 19818876, 20064630, 8600429, 21056478, 17489842, 21621438, 19705751, 31152278, 25968158, 32169613, 22538251, 32377700 223 0.3604 134 7445 A G + + SNHL Cfrm [P] 8019558, 7987332, 7994888, 9247714, 9450881, 9742104, 10936107, 10220138, 18674747, 29253894, 31965079, 12655418, 10905659, 10577941, 8572257, 15126302, 15694374, 10760311, 16361254, 11691920, 15477393, 18402672, 16132471, 11175301, 10633132, 18537605, 18639500, 11215518, 15292920, 20064630, 17489842, 21621438, 29605341, 29921456, 29934116, 25968158, 32169613, 22538251, 22567359, 15987292, 11069477, 15620132, 16092542, 23525847, 30035268 1 0.0016 89 7445 A G Term514Term + + SNHL Cfrm [P] 8019558, 7987332, 7994888, 9247714, 9450881, 9742104, 10936107, 10220138, 18674747, 29253894, 31965079, 12655418, 10905659, 10577941, 8572257, 15126302, 15694374, 10760311, 16361254, 11691920, 15477393, 18402672, 16132471, 11175301, 10633132, 18537605, 18639500, 11215518, 15292920, 20064630, 17489842, 21621438, 29605341, 29921456, 29934116, 25968158, 32169613, 22538251, 22567359, 15987292, 11069477, 15620132, 16092542, 23525847, 30035268 1 0.0016 581 7445 A T Term514S + - SNHL Reported [VUS] 18639500 4 0.0065 166 7445 A T + - SNHL Reported [VUS] 18639500 4 0.0065 133 7445 A C + - DEAF Reported [VUS] 29253894, 10577941, 16361254, 18402672, 10739773, 18639500, 17659260, 20064630, 19705751, 25968158, 32169613 17 0.0275 88 7445 A C Term514S + - DEAF Reported [VUS] 29253894, 10577941, 16361254, 18402672, 10739773, 20064630, 19705751, 25968158, 32169613 17 0.0275 296 7451 A T - + CPEO+ptosis Reported 23696415 0 0.0000 282 7453 G A + + Fatal neonatal lactic acidosis / Neonatal lactic acidosis, exercise intolerance, mild ID Cfrm [LP] 22453297, 24667782, 32313153, 33279600 0 0.0000 174 7456 A G + - DEAF Unclear 15292920 15 0.0242 230 7458 G A - + PEO Reported 20186009 0 0.0000 243 7462 C T + - DEAF Reported [VUS] 20722495 5 0.0081 65 7471 C CC + + PEM / AMDF / Motor neuron disease-like Cfrm [P] 7581383, 9708714, 9778262, 9832034, 9778273, 11378827, 11919191, 10220138, 20722495, 23847141, 31965079, 34969639, 10094190, 10905659, 15126302, 15382008, 10760311, 15477393, 16368237, 15833431, 15482956, 18398437, 10545608, 18977334, 17637808, 11215518, 15292920, 20064630, 17489842, 19718780, 22538251, 32504279, 34467602, 38465286 7 0.0113 413 7471 C : nr nr Maternally inherited hypertension / deafness Reported [VUS](=7466d) 25968158, 31776834, 32169613 30 0.0485 157 7472 A C + + MM / DMDF modulator Reported 16368237, 15833431, 18398437, 22538251 10 0.0162 309 7472 A CA + + PEM / AMDF / Motor neuron disease-like See 7471insC 0 0.0000 414 7474 A : nr nr Hearing loss and epilepsy Reported (=7474d) 19073569 4 0.0065 423 7474 A G nr nr Hearing loss patient Reported 32169613 5 0.0081 112 7480 T G - + MM Reported 15210164, 15477393, 19718780 0 0.0000 471 7484 A G + - MERRF Reported 0 0.0000 338 7486 G A - + CPEO Reported 29398297 0 0.0000 313 7492 C T + - Hypertension / hearing loss risk factor Reported 26782414, 32377700 10 0.0162 415 7496 T C nr nr Hearing Loss Reported 28027978, 25968158 3 0.0048 66 7497 G A + + MM / EXIT Cfrm [LP] 9778262, 29253894, 31965079, 14605505, 15477393, 16199753, 20064630, 22781547 1 0.0016 310 7501 T A nr nr Cardiovascular disease; renal disease patient Reported 24491108, 25088491, 23735083 1 0.0016 405 7502 C T nr nr Reported in tic disorder patient Reported [VUS] 33289513 4 0.0065 207 7505 T C + - Maternally inherited hearing loss Reported [VUS] 20153673, 30336267, 25968158, 32169613, 22538251, 33638616 0 0.0000 147 7506 G A - + PEO with hearing loss Reported 17614276 0 0.0000 67 7510 T C - + SNHL Cfrm [LP] 10978361, 12471220, 10905659, 15126302, 16361254, 18252214, 11215518, 15292920, 20064630, 17489842, 22781547, 23430555, 29299381, 32970680 1 0.0016 68 7511 T C + + SNHL/Deafness Cfrm [LP] 10371545, 12461693, 31965079, 10905659, 14960712, 15126302, 15670746, 10760311, 16361254, 15477393, 18340555, 12172268, 17637808, 11215518, 15292920, 20064630, 17489842, 29257206, 28320335, 26279247, 25968158, 32169613, 22538251 2 0.0032 69 7512 T C + + PEM / MERME / MELAS Cfrm [LP] 7669057, 9778262, 9832034, 31965079, 15126302, 16361254, 15477393, 16199753, 11215518, 15292920, 20064630, 17894844 0 0.0000 395 7519 A : nr nr Deafness-associated Reported 33045734, 32169613 5 0.0081 164 7520 G A nr nr Sporadic bilateral optic neuropathy Reported 31965079, 18676632 0 0.0000 185 7526 A G - + Mitochondrial myopathy Reported [VUS] 16059939 0 0.0000 323 7539 C T - + Multisystemic mitochondrial disorder Reported 31965079, 25447692 0 0.0000 70 7543 A G - + MEPR Reported 10488907, 27119776, 32970680 52 0.0840 362 7551 A G + - DEAF increased penetrance (1555G helper) Reported 30592262, 27544295, 27536005, 32169613, 37789629 2 0.0032 297 7554 G A - + Myopathy+ataxia+nystagmus+migraines+lactic acidosis Reported 23696415, 32970680 0 0.0000 480 7560 T C - + Focal segmental glomerulosclerosis (FSGS) with cortical blindness + pancreatitis Reported 39056263 0 0.0000 380 7566 G A nr nr Unspecified patient from clinical lab Reported [VUS] 31965079 0 0.0000 22 7587 T C M1T - + Mitochondrial Encephalomyopathy Cfrm [LP] 10205264, 21457906 0 0.0000 269 7598 G A A5T - + Possible LHON helper variant Reported 16418878, 27498855 650 1.0504 146 7623 C T T13I + - LHON Reported 17003408 0 0.0000 391 7630 T : frameshift - + MELAS Reported 18245391 0 0.0000 193 7637 G A E18K - + PD risk factor / neurological impairment Reported [VUS] 19076426, 38465286 2 0.0032 23 7671 T A M29K - + MM Reported [VUS] 10486321, 21457906 0 0.0000 413 7695 T C L37P - + Cerebellar and pyramidal syndrome with cognitive impairment Reported 30831263 0 0.0000 262 7697 G A V38I + - Possible HCM susceptibility, high altitude adaptation Reported 19473338, 23563965, 27498855, 33420243, 27465874 311 0.5026 224 7706 G A A41T + + Alpers-Huttenlocher-like Reported 12612282, 32652755 11 0.0178 496 7749 T C I55T - + Possible association with sepsis Reported 33504965 2 0.0032 161 7859 G A D92N + - Progressive Encephalomyopathy Reported 15286228 173 0.2796 198 7868 C T L95F + - LHON Reported - possibly synergistic 19497304 14 0.0226 175 7877 A C K98Q + - PEG glaucoma Reported 18246027 0 0.0000 543 7887 G A G101D - + Cerebellar ataxia + neuropathy + exercise intolerance Reported 34325999 0 0.0000 24 7896 G A W104Term - + Multisystem Disorder Cfrm [P] 11558799, 22342700, 31514455 0 0.0000 497 7943 T C S120P - + Possible association with sepsis Reported 33504965 0 0.0000 390 7965 T C F127S . + Hepatic failure / COX deficiency Reported 30461153, 28802248 1 0.0016 139 7970 G T E129Term - + Encephalopathy Reported 16288875 0 0.0000 92 7989 T C L135P - + Rhabdomyolysis Reported [VUS] 17886296, 14733964 0 0.0000 273 8010 T C V142A - + Developmental delay, ataxia, seizure, hypotonia, lactic acidosis Reported 23463613 2 0.0032 285 8021 A G I146V + - Asthenozoospermia Reported 24931671 4 0.0065 25 8042 AT : frameshift - + Lactic Acidosis Reported [VUS] 11471180 0 0.0000 199 8078 G A V165I + - DEAF Reported 17637808, 22241583 28 0.0452 380 8088 T : frameshift - + Mitochondrial myopathy with complex IV deficiency Cfrm [LP] 30315213 0 0.0000 94 8108 A G I175V + - SNHL Reported 15637703 76 0.1228 367 8119 T : frameshift - + Biliary atresia Reported 29343773 0 0.0000 341 8156 G : frameshift - + Multi-system mitochondrial disorder Reported 28521807 0 0.0000 575 8163 A G Y193C - + Late-onset cerebellar ataxia Reported 31167410 0 0.0000 574 8231 C A L216M - + Coronary artery disease risk factor Reported 32096057 0 0.0000 362 8241 T G F219C - + MIDD+retinopathy Conflicting reports 28890306, 27422531 0 0.0000 347 8249 G A G222Term + - Mitochondrial myopathy Reported 2624428, 23841600 0 0.0000 71 8296 A G + + DMDF / MERRF / HCM / epilepsy / hearing loss Reported [VUS] 9571188, 9802769, 9932960, 10220138, 11406419, 29253894, 31965079, 12504210, 15126302, 15477393, 15100439, 18651333, 10525672, 15554876, 10737988, 11857739, 19370763, 24689073, 32970680, 32169613, 37573175, 20143911 38 0.0614 321 8299 G A - + PEO + respiratory impairment Reported [VUS] 31965079, 22326363 0 0.0000 72 8302 A T + - Encephalopathy Unclear 11335700 0 0.0000 298 8304 G A - + Epilepsy+ataxia+visual disturbance+deafness Reported 23696415 0 0.0000 365 8305 C T - + Mitochondrial myopathy Reported 29174468, 29472063, 29482911, 29467576 0 0.0000 308 8306 T C - + Severe adult-onset multisymptom myopathy / Myoclonic epilepsy Cfrm [VUS*] 23847141, 22925535, 29663531 0 0.0000 260 8311 T C + - Poss. hypertension factor Reported 31965079, 19778529 68 0.1099 73 8313 G A - + MNGIE-like / Progressive mito cytopathy Cfrm [LP] 9380435, 29253894, 12737626, 15477393, 15100439, 17620140, 19618438, 35778412, 34557026 1 0.0016 468 8315 A C - + MERRF Reported 35886028 0 0.0000 132 8316 T C - + MELAS Reported 15477393, 15100439, 10996780 0 0.0000 291 8319 A G - + Kearns-Sayre syndrome Reported [VUS] 31965079, 23463613 0 0.0000 118 8326 A G - + Mitochondrial Cytopathy Reported 12406974, 12400067, 15477393 0 0.0000 74 8328 G A - + Mito Encephalopathy / EXIT with myopathy and ptosis Reported 10090475, 15477393, 15100439, 17410322, 19718780, 32970680 0 0.0000 242 8332 A G + - Dystonia and stroke-like episodes Reported 19930207 0 0.0000 261 8337 T C + - Poss. hypertension factor Reported 31965079, 19778529 175 0.2828 424 8339 A G nr nr Hearing loss patient Reported 32169613 1 0.0016 232 8340 G A - + Myopathy, Exercise Intolerance, CPEO-like /childhood epilepsy with SNHL & eye disease Cfrm [LP] 28729369, 34969639, 19941338, 23376095, 23838278, 24161205, 29501485, 32970680, 36982871, 36999085, 34969639 0 0.0000 75 8342 G A - + PEO and Myoclonus Reported [VUS] 10220860, 15477393, 15100439, 19718780, 32970680 0 0.0000 171 8343 A G + - Metabolic syndrome and polycystic ovary syndrome / possible PD risk factor / deafness Reported 19076426, 31965079, 29155328, 30194987, 25968158, 32400865 66 0.1067 76 8344 A G - + MERRF; Other - LD / depressive mood disorder / leukoencephalopathy / HiCM / lipomas Cfrm [P] 1678125, 8041403, 8198140, 8454287, 8386419, 8388680, 8513395, 1674297, 1606473, 8447321, 1709275, 1487239, 8492942, 8428629, 1910259, 8228033, 1324294, 1661776, 2112427, 1962048, 8170567, 1431990, 8133313, 1910341, 8006688, 3180221, 8139569, 2124116, 1899320, 1334369, 7850981, 7837776, 7647790, 7603535, 1463006, 7603509, 7739567, 7882812, 7603536, 9365365, 9541428, 9384601, 9798744, 9883816, 9818878, 9851442, 8602753, 10426322, 11160915, 8622733, 10862082, 10675533, 10939569, 10611124, 11335700, 11074292, 16947981, 15619607, 15317755, 15164143, 15683723, 17236134, 17886296, 17053148, 18674747, 16483543, 16815877, 16120315, 22411789, 23390135, 23297368, 25192510, 25652200, 26995359, 26404827, 29253894, 30674338, 31965079, 34146515, 34969639, 12471464, 12661941, 12876264, 14639582, 14748908, 15893315, 15477393, 15100439, 10699170, 10942580, 17275787, 17653689, 7565871, 7735877, 17989367, 15466086, 8809026, 18319067, 18647627, 19370763, 16326995, 19266142, 19486129, 10753928, 20064630, 19941338, 20123042, 20581069, 18848389, 21473984, 8559379, 21935892, 19718780, 22577219, 22249460, 23376095, 23838278, 10716764, 24642831, 22781547, 29288969, 29139113, 23006856, 29390138, 30146801, 31178486, 31178476, 29650490, 31345444, 17323145, 24961732, 28754700, 30797798, 22538251, 25559684, 32504279, 24931247, 35922766, 36675808, 36744444, 28716227, 31665838, 36928678, 23257519, 37038312, 37439868, 37737178, 23635963, 37988592, 38465286, 39380483, 32818253, 34536563 4 0.0065 388 8346 C : nr nr Rett Syndrome Reported 32105570 7 0.0113 262 8347 A G + - Poss. hypertension factor Reported 31965079, 19778529, 24689073 20 0.0323 77 8348 A G + + Cardiomyopathy / SNHL / poss. hypertension factor Reported 11446509, 31965079, 15477393, 15100439, 18252214, 16337222, 20064630, 19778529, 20111055 138 0.2230 78 8355 T C - + Myopathy Reported 11335700, 15477393 0 0.0000 79 8356 T C - + MERRF Cfrm [LP] 1361099, 8069654, 7739567, 16483543, 25192510, 31965079, 15477393, 15100439, 16132471, 20064630, 20610441, 22538251 0 0.0000 376 8357 T C - + Multiple symmetric lipomatosis Reported 31912494 1 0.0016 102 8361 G A - + MERRF Reported [VUS] 25192510, 14681892, 15477393 0 0.0000 80 8362 T G - + Myopathy / ataxia deafness diabetes mellitus Reported [VUS] 11335700, 23847141, 31965079, 15477393, 15100439, 29663531 0 0.0000 81 8363 G A - + MICM+DEAF / MERRF / Autism / Leigh Syndrome / Ataxia / Lipomatosis Cfrm [LP] 8651277, 9052804, 9932960, 21263444, 25192510, 31965079, 10868777, 11108511, 15477393, 15100439, 18176892, 18319067, 15554876, 10102446, 19278689, 19370763, 16326995, 20064630, 19718780, 29983856, 25909222, 22538251, 35821181, 39600123 0 0.0000 171 8381 A G T6A + - MIDD / LVNC cardiomyopathy-assoc. Reported 11062027, 15452396, 37340059 17 0.0275 551 8382 C T T6I - + Suspected mito disease / optic neuropathy Reported 32858252, 38465286, 37340059 9 0.0145 254 8393 C T P10S - + Reversible brain pseudoatrophy Reported 17101920, 21457906 311 0.5026 278 8403 T C I13T + - Episodic weakness and progressive neuropathy Reported 24153443, 37340059 4 0.0065 251 8411 A G M16V + - Severe mitochondrial disorder Reported 20207608, 37340059 2 0.0032 405 8412 T C M16T + - Possible LHON helper mutation Reported 31817256 20 0.0323 258 8414 C T L17F + - Increased risk of T2DM and high altitude polycythemia (HAPC) in haplogroup D4 / Longevity Reported 33420243, 18468491, 24498190 2316 3.7425 478 8418 T C L18P + - Severe bilateral optic neuropathy Reported [VUS] 28027978, 37340059 1 0.0016 552 8424 T C L20P nr nr Suspected mito disease Reported 32858252, 37340059 0 0.0000 311 8481 C T P39L + - Tetralogy of Fallot patient Reported 23735083, 37340059 10 0.0162 382 8490 T C M42T + - Peripheral neuropathy of T2DM Reported 18682780, 18691441, 24456990, 37340059 24 0.0388 305 8519 G A E52K + - Possible susceptibility to bullous pemphigoid Reported 25941154, 31824475 160 0.2586 314 8527 A G ATP8:K54K ATP6:M1M + - Neuromuscular disorder, possible helper mutation Reported 26993169 245 0.3959 233 8528 T C ATP8:W55R ATP6:M1T + + Infantile cardiomyopathy / hyperammonemia Cfrm [LP] 19188198, 34298071, 21457906, 26803244, 30763462, 33180048, 30642647, 26741492, 27409572 0 0.0000 234 8529 G A ATP8:W55Term ATP6:M1M + - Apical HCM Reported [VUS] 17954552, 18620007 0 0.0000 406 8551 T C ATP8:H62H ATP6:F9L + - Possible LHON helper mutation Reported 31817256 18 0.0291 229 8558 C T ATP8:P65S ATP6:A11V + - Possibly LVNC cardiomyopathy-associated Reported 20211276 15 0.0242 318 8561 C G ATP8:P66A ATP6:P12R + + Ataxia w neuropathy, DM, SNHL, and hypogonadism Reported 27502083 0 0.0000 399 8561 C T ATP8:P66S ATP6:P12L - + Ataxia w psychomotor delay Reported 31788426 0 0.0000 539 8572 G A ATP8:Term69Term ATP6:G16S + - Spinocerebellar ataxia Reported 34037856 218 0.3523 458 8573 G A G16D + - Patient with suspected mitochondrial disease Reported by paper as Benign 30763462 66 0.1067 540 8578 C T P18S + - Spinocerebellar ataxia Reported 34037856 31 0.0501 424 8597 T C I24T - + Leigh Syndrome Reported 30763462, 22348497 16 0.0259 498 8606 C T P27L - + Possible association with sepsis Reported 33504965 0 0.0000 459 8608 C T P28S + - Patient with suspected mitochondrial disease Reported 30763462 1 0.0016 342 8611 C CC frameshift - + Ataxia, microcephaly, developmental delay, intellectual disability Reported 23847141, 28412374 0 0.0000 460 8612 T C L29P + - Arm and leg weakness, incontinence, developmental delay, autism, epilepsy Reported 30763462, 35303589 0 0.0000 344 8618 T TT frameshift - + NARP/cognitive decline+abnormal brain MRI+impaired kidney function Cfrm [LP] 19124644, 30763462, 32042910, 34732400 0 0.0000 483 8639 T C I38T + - Possible LHON modulator Reported 23463613, 32858252, 31743754 26 0.0420 244 8668 T C W48R + - LHON Reported 20454697 36 0.0582 421 8691 A G K55K nr nr Infantile mito disease w subclinical hypothyroidism Reported 30763462, 26053701 7 0.0113 270 8719 G A G65Term - + Suspected mito disease Reported [VUS] 23463613, 32652755 0 0.0000 461 8723 G T R66L 99% - Patient with suspected mitochondrial disease Reported 30763462 0 0.0000 226 8741 T G L72R - + MILS protective factor Reported 19433277 0 0.0000 593 8777 T C L84P - + Adult-onset cerebellar ataxia  Reported 38755691 0 0.0000 484 8779 C T L85F + - Possible LHON modulator Reported 31743754 1 0.0016 449 8782 G A G86Term - + Cerebellar ataxia+diabetes+kidney disease / ataxia+myoclonic epilepsy Reported 32042910 0 0.0000 534 8783 G A G86E nr nr Unspecified suspected mitochondrial disorder Reported [VUS] 32652755 1 0.0016 159 8794 C T H90Y + - Exercise Endurance / Coronary Atherosclerosis risk Reported 15126279, 21099167 1764 2.8505 227 8795 A G H90R - + MILS protective factor Reported 19433277 0 0.0000 553 8806 C G P94A nr nr Suspected mito disease Reported 32858252 0 0.0000 541 8812 A G T96A - + Spinocerebellar ataxia Reported 34037856 77 0.1244 351 8821 T G S99A nr nr Possible LHON helper variant Reported 15896721 0 0.0000 147 8836 A G M104V + - LHON Reported 17003408, 21457906, 32887465 169 0.2731 423 8839 G C A105P - + NARP syndrome Reported [VUS] 30763462, 24118886, 29467576 0 0.0000 462 8843 T C I106T + - Patient with suspected mitochondrial disease Reported by paper as Likely Benign 30763462, 37083953 217 0.3507 145 8851 T C W109R + + BSN / Leigh syndrome Cfrm [VUS*] 8554662, 24002810, 29253894, 21457906, 21470976, 23206802, 30763462, 18620007, 32652755 4 0.0065 594 8879 G T R118L - + Adult-onset cerebellar ataxia - possible helper mutant for m.8777C Reported 38755691 0 0.0000 463 8881 T C S119P nr nr Patient with suspected mitochondrial disease Reported 30763462 3 0.0048 320 8890 A G K122E - + Juvenile-onset metabolic syndrome Reported 23921547 0 0.0000 554 8902 G A A126T nr nr Suspected mito disease Reported 32858252 9 0.0145 542 8909 T C F128S + - Recurrent severe kidney disease and multiple systemic dysfunctions Reported 32971864 0 0.0000 464 8921 G A G132D + - Patient with suspected mitochondrial disease Reported 30763462 9 0.0145 100 8932 C T P136S + - Prostate tumor / Neuromuscular disorder Reported [B] 18850577, 15647368, 26993169 245 0.3959 420 8936 T A L137H - + Atypical Leigh syndrome Reported [VUS] 29929013 1 0.0016 465 8938 A G I138V + - Patient with suspected mitochondrial disease Reported 30763462 46 0.0743 134 8950 G A V142I + - LDYT / Spinocerebellar Ataxia Reported 16196519, 18495510, 30763462, 34037856, 37083953 84 0.1357 515 8951 T C V142A nr nr Patient with ataxia Reported 32504279 9 0.0145 369 8959 G A E145K + + Developmental delay, intellectual disability, low citrilline Reported 29307858, 29480377 4 0.0065 319 8969 G A S148N - + Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) / IgG nephropathy Cfrm [LP] 25037980, 27450679, 29350304, 27812026, 30763462, 34732400, 37988592 1 0.0016 555 8969 G C S148T nr nr Suspected mito disease Reported 32858252 0 0.0000 556 8975 T C L150P nr nr Suspected mito disease Reported 32858252 23 0.0372 422 8989 G C A155P - + NARP syndrome Reported 34969639, 30763462, 23266623 0 0.0000 27 8993 T C L156P - + NARP / Leigh Disease / MILS / other Cfrm [P] 8395787, 8190310, 9568930, 9701486, 9762610, 9870208, 8687192, 8602753, 10417290, 10862082, 11074292, 23297368, 25192510, 26404827, 29253894, 14748908, 15324306, 10222646, 17568559, 18402672, 15466086, 18496570, 18055910, 16532470, 20064630, 20123042, 19747204, 17403843, 21457906, 24153443, 16049925, 24642831, 30095618, 29512743, 19875463, 10467733, 30128709, 30763462, 32042921, 31996241, 31187502, 18620007, 17323145, 32858252, 19160410, 29101127, 33717984, 28429146, 31665838, 37038312, 38897591 2 0.0032 526 8993 TG CA L156P + + Developmental delay & myopathy Cfrm [LP] 32652755 0 0.0000 26 8993 T G L156R + + NARP / Leigh Disease / MILS / other Cfrm [P] 8095070, 1539598, 2137962, 1442494, 8240109, 8042671, 8435424, 8250532, 1436530, 1550128, 8476414, 8078883, 8505474, 7529982, 7605802, 7798979, 7603783, 9199572, 9329425, 9568930, 9222207, 9556461, 9686360, 9870208, 8687192, 8602753, 8830176, 10426322, 10417290, 10092618, 10862082, 10889120, 10611124, 11925565, 12372991, 11074292, 14998933, 16639504, 17886296, 17545557, 17257906, 18261463, 18413591, 17518546, 17170133, 18674747, 18850577, 16483543, 20471050, 20854934, 21550418, 20138159, 22080835, 23297368, 19891062, 25192510, 27919073, 28385334, 28385333, 26404827, 29253894, 30369864, 34080141, 11076946, 10660580, 14748908, 15647368, 8751860, 16050991, 9858860, 16402916, 16525806, 17452590, 17568559, 18256697, 18402672, 18241671, 10611123, 11331900, 18496570, 16337222, 18647627, 19370763, 19433277, 16532470, 20064630, 20123042, 19747204, 15753359, 17403843, 21457906, 8858707, 11453454, 21120938, 15282179, 24642831, 25009317, 25152966, 27450679, 27206685, 27209570, 30095618, 29983856, 29587845, 29452638, 27466392, 30379275, 30726454, 30768233, 29307858, 19875463, 10590437, 10669202, 29602698, 25240982, 27450367, 27000225, 29224958, 30461153, 29980632, 30763462, 32042921, 31996241, 31187502, 18620007, 17323145, 26725255, 32858252, 15694179, 27129022, 17276738, 19667215, 19160410, 8750605, 16546428, 12404959, 32313153, 12134275, 11751691, 11730668, 11371515, 11843698, 10676807, 22241703, 23301511, 29850888, 17276742, 19669818, 19144360, 29101127, 31276579, 28754700, 16542579, 32220313, 34829316, 33717984, 28429146, 33600551, 31665838, 37038312, 37439868, 37737178, 38465286, 34536563 6 0.0097 466 8999 T C V158A + - Patient with suspected mitochondrial disease Reported 30763462, 32858252 9 0.0145 557 9008 C G T161S nr nr Suspected mito disease Reported 32858252 2 0.0032 387 9010 G A A162T - + Unspecified neurological disorder Reported 30227252 28 0.0452 124 9016 A G I164V - + LHON Reported 16050984, 17123466, 37083953 13 0.0210 388 9017 T C I164T - + Unspecified neurological disorder Reported 30227252 14 0.0226 558 9019 A G T165A nr nr Suspected mito disease Reported 32858252 0 0.0000 358 9025 G A G167S + - Motor neuropathy, Leigh-like, colon cancer Reported [VUS] 24986921, 30763462, 37083953 45 0.0727 467 9026 G A G167D - + Spinocerebellar ataxia / patient with suspected mitochondrial disease Reported [VUS] 24448545, 30763462, 34037856 3 0.0048 359 9029 A G H168R + + LHON-like Reported 23463613, 24986921, 30763462, 32652755, 37083953 1 0.0016 360 9032 T C L169P - + NARP / Complex phenotype with microcephaly, ataxia, hearing loss, lactic acidosis Reported [VUS] 24986921, 30763462, 32931937, 32581362 0 0.0000 222 9035 T C L170P + + Ataxia syndromes Cfrm [LP] 34969639, 19626676, 22577227, 30763462, 31187502, 32858252, 29467576, 35159298 0 0.0000 468 9041 A G H172R - + Patient with suspected mitochondrial disease Reported 30763462 52 0.0840 535 9049 G A G175Term nr nr Unspecified suspected mitochondrial disorder Reported [VUS] 32652755 0 0.0000 221 9055 G A A177T + - PD protective factor Reported 12618962 2573 4.1578 230 9058 A G T178A + - Patients with (1) LVNC cardiomyopathy; (2) autism, intellectual disability, epilepsy Reported as (1) possible association or as (2) benign 20211276, 37083953 39 0.0630 306 9071 C T S182L + - Potentially functional variant cosegregating with LHON3635A Reported 23304069 16 0.0259 469 9088 T C S188P - + Patient with suspected mitochondrial disease Reported by paper as Likely Benign 30763462 25 0.0404 228 9098 T C I191T + - Predisposition to anti-retroviral mito disease Reported 19947808 67 0.1083 28 9101 T C I192T + - LHON Reported 7726182, 20301353, 27498855, 16132471, 21457906, 30763462, 18620007, 35773337 63 0.1018 470 9115 A G I197V + - Patient with suspected mitochondrial disease Reported 17320116, 30763462 27 0.0436 343 9127 AT : IL-PTerm - + NARP Reported 29054413 0 0.0000 471 9133 G A E203K + - Patient with suspected mitochondrial disease Reported 30763462 4 0.0065 338 9134 A G E203G nr nr Hypotonia, lactic acidosis, HCM, IUGR Reported [VUS] 22231385, 30763462, 32652755 0 0.0000 173 9139 G A A205T + - LHON Reported - possibly synergistic 18216301, 37083953 51 0.0824 472 9152 T C I209T - + Patient with suspected mitochondrial disease Reported [VUS] 30763462 17 0.0275 545 9154 C T Q210Term - + Peripheral neuropathy ataxia IgA nephropathy Reported 34418069, 34635923, 37737178 0 0.0000 370 9155 A T Q210L + + Developmental delay, intellectual disability, low citrilline Reported 29307858 0 0.0000 392 9155 A G Q210R - + MIDD, renal insufficiency Cfrm [LP] 27450679, 27966441, 34961688 0 0.0000 431 9166 T C F214L + + EXIT+more / bilateral optic neuropathy Reported 32419253, 28027978 0 0.0000 30 9176 T G L217R + + Leigh Disease / Spastic Paraplegia / Spinocerebellar Ataxia Cfrm [LP] 11119722, 11382202, 29253894, 18402672, 11731285, 29307858, 11245730, 15176724, 19875463, 30763462, 19160410, 38465286 1 0.0016 29 9176 T C L217P + + FBSN / Leigh Disease / Spinocerebellar Ataxia Cfrm [P] 7668837, 9270604, 9501263, 9631394, 10862082, 20074547, 29253894, 16120341, 18402672, 19370763, 20064630, 19747204, 20056103, 15753359, 20656066, 21457906, 21819970, 24153443, 24642831, 30136164, 30128709, 29756269, 30763462, 32042921, 31996241, 31187502, 18620007, 29038134, 31625254, 32858252, 19160410, 32686207, 34037856, 28429146, 31424416, 32348839, 22971232 3 0.0048 132 9185 T C L220P + + Leigh Disease / Ataxia syndromes / NARP-like disease / Episodic weakness and Charcot-Marie-Tooth Cfrm [P] 16217706, 23847141, 29253894, 18461509, 17352390, 19747204, 21473984, 21457906, 22577227, 24153443, 20546952, 25548692, 27290639, 22933740, 29228836, 30128709, 30461153, 29756269, 30763462, 32042921, 31996241, 31187502, 18620007, 32858252, 24316278, 28754700, 29116603, 31500933, 27783406, 28132834, 34329598, 33717984, 28429146, 29467576, 36137325, 37737178 3 0.0048 133 9191 T C L222P - + Leigh Disease Cfrm [LP] 16217706, 39843744, 30763462, 18620007, 32708436, 24316278 0 0.0000 83 9205 TA : Term-M + - Encephalopathy / Seizures / Lacticacidemia Cfrm [LP] 24667782, 12915481, 18221507, 14585098, 16326995, 8739943, 15265003, 30763462, 18620007, 25588698 0 0.0000 479 9237 G A V11M na na Mitochondrial Respiratory Chain Disorder Reported [VUS] 28027978 0 0.0000 583 9247 G C S14T nr nr MELAS Reported 0 0.0000 499 9266 G T G20G - + Possible association with sepsis Reported 33504965 1 0.0016 304 9267 G C A21P - + MIDD Reported 25701779 0 0.0000 414 9331 T C L42P + - Failure to thrive with metabolic acidosis, cognitive impairment, optic atrophy Reported 30831263 1 0.0016 188 9379 G A W58Term - + MM w lactic acidosis Reported [VUS] 12414820 0 0.0000 286 9387 G A V61M - + Asthenozoospermia Reported 23645088 0 0.0000 516 9399 A G S65G nr nr Patient with epilepsy, myopathy, hypoacusis, psychiatric disorders Reported 32504279 1 0.0016 500 9403 C A T66K - + Possible association with sepsis Reported 33504965 0 0.0000 501 9415 A G H70R - + Possible association with sepsis Reported 33504965 0 0.0000 31 9438 G A G78S + - LHON / gout Conflicting reports 8037217, 8037201, 8240356, 7804416, 8053461, 7710535, 7599218, 7573056, 10520236, 16132471, 18161625, 21457906, 29976239 778 1.2572 407 9444 C T R80W + - Possible LHON helper mutation Reported 31817256 1 0.0016 250 9478 T C V91A - + Leigh Disease Reported [VUS] 29253894, 20525945, 23301511 22 0.0356 144 9480 TTTTTCTTCGCAGGA : FFFAG-del - + Myoglobinuria Cfrm [LP], alt locus at 9487del15 8630495, 20854934, 11506394, 10788526, 11782982 0 0.0000 377 9487 TCGCAGGATTTTTCT : FFAGFF-del - + Myoglobinuria alt loc to 9480del15 [LP] 8630495 0 0.0000 379 9490 C T A95V + - Gout Reported 29976239 24 0.0388 32 9537 C CC frameshift + - Leigh Disease Cfrm [LP] 11063732, 18977334 0 0.0000 187 9544 G A G113E nr nr Sporadic bilateral optic neuropathy Reported 18676632 0 0.0000 576 9553 G A W116Term - + Adult-onset MELAS Reported 33863631 0 0.0000 264 9559 C : frameshift - + Rhabdomyolysis Reported 21163656 0 0.0000 148 9660 A C M152L + - LHON Reported 17003408 0 0.0000 33 9738 G T A178S + - LHON Reported 7804416 0 0.0000 140 9789 T C S195P - + Myopathy Reported 16288875 0 0.0000 34 9804 G A A200T + + LHON / MS Reported [VUS] 8240356, 7710535, 7599218, 10520236, 11339587, 20301353, 16132471, 21457906, 23735083, 30831606, 11579587, 27119776 183 0.2957 378 9856 T C I217T + - LVNC cardiomyopathy / gout Reported 23465694, 29976239 21 0.0339 155 9861 T C F219L + - AD Reported 16358358 128 0.2068 567 9907 G A G234D - + Cavitating leukodystrophy Reported 37038312 0 0.0000 408 9921 G A A239T + - Possible LHON helper mutation Reported 31817256 67 0.1083 35 9952 G A W249Term - + Mitochondrial Encephalopathy Cfrm [LP] 9634511 0 0.0000 36 9957 T C F251L - + PEM / MELAS / NAION / HCM / gout Reported 7496173, 10065021, 15823923, 18587274, 21249588, 15282179, 29976239, 32652755 50 0.0808 352 9966 G A V254I nr nr LHON possible helper variant Reported 15896721 404 0.6528 219 9972 A C I256L - + EXIT & APS2 - possible link Reported 19460300 2 0.0032 525 9984 G A G260Term nr nr Suspected mito disease Reported 17403843, 32652755 0 0.0000 377 9997 T A nr nr Unspecified patient from clinical lab Reported [VUS] 31965079 0 0.0000 82 9997 T C - + MHCM Reported [VUS] 8079988, 10090480, 29253894, 15477393, 20064630 1 0.0016 470 10000 G A - + Multisystem mitochondrial disorder Reported 35432167 1 0.0016 372 10003 T C + - Hypertension / maternally inherited diabetes / hearing loss Reported 31965079, 27544295, 26134044, 32169613, 25615420 12 0.0194 425 10005 A G nr nr Hearing loss patient Reported 31965079, 24470521, 32169613 22 0.0356 83 10006 A G + - CIPO / Encephalopathy Unclear 1709275, 8129854, 11335700, 31965079, 15477393 16 0.0259 84 10010 T C - + PEM Cfrm [VUS*] 9199564, 17886296, 23847141, 25652200, 16120360, 11971101, 15477393, 10611123, 20064630, 26469001, 32948797 0 0.0000 85 10014 G A + - Myopathy Unclear 11335700, 31965079 0 0.0000 426 10019 C T nr nr Hearing loss patient Reported 32169613 0 0.0000 86 10044 A G - + SIDS Unclear 8888049, 12160969, 16947981, 16773565, 29253894, 31965079, 15477393, 10598821, 15466077 185 0.2990 406 10055 A G nr nr Tic disorder patient / hearing loss patient Reported 31965079, 23463613, 33289513, 32169613 12 0.0194 428 10057 T C nr nr Hearing loss patient Reported 32169613 6 0.0097 277 10086 A G N10D + - Hypertensive end-stage renal disease Reported 23563965, 11532685, 27217714, 29987491 466 0.7530 403 10134 C A Q26K - + Leigh Disease Reported [VUS] 25118196 0 0.0000 426 10142 C T N28N nr nr Recurrent pregnancy loss Reported 28696810 702 1.1344 82 10158 T C S34P + + Leigh Disease / MELAS Cfrm [P] 22115768, 14764913, 14684687, 14705112, 15972314, 17152068, 18402672, 15576045, 15372108, 18977334, 20064630, 20972245, 21457906, 24642831, 21364701, 28050007, 28883258, 30095618, 29237403, 27742419, 27914863, 28522224, 28916229, 29054334, 29500099, 29987491, 30128709, 31996177, 32371897, 32504279, 28429146, 26741492, 34732400, 37038312 0 0.0000 415 10189 T C M44T - + Behavior alteration with dilated cardiomyopathy Reported 30831263 1 0.0016 37 10191 T C S45P - + Leigh Disease / ESOC Cfrm [P] 11456298, 17535832, 23847141, 34969639, 14684687, 14705112, 15972314, 17152068, 17413873, 18402672, 15576045, 18977334, 19617458, 20064630, 20226758, 20972245, 21457906, 16044424, 24642831, 21364701, 21850008, 27450679, 16023078, 30095618, 29987491, 30128709, 30461153, 31261379, 28429146, 26741492, 35715829, 37196589, 37038312, 38437941 0 0.0000 577 10197 G C A47P - + Leigh Disease Reported 38437941 0 0.0000 157 10197 G A A47T + + Leigh Disease / Dystonia / Stroke / LDYT Cfrm [P] 11130070, 12509511, 19458970, 29253894, 17152068, 17413873, 15372108, 18800376, 18977334, 20064630, 20972245, 21978175, 21364701, 30095618, 30899856, 30128709, 30461153, 30978515, 30978516, 30199507, 32045392, 28429146, 35715829, 37038312, 38465286 3 0.0048 136 10237 T C I60T + - LHON Reported 12227465, 20301353, 29987491, 35773337 100 0.1616 303 10254 G A D66N - + Leigh Disease Cfrm [LP] 20202874 0 0.0000 521 10350 C A L98M + - LHON Reported 34177762 0 0.0000 592 10372 A G E105G - + Sensorimotor axonal polyneuropathy Reported 33732874 0 0.0000 128 10398 A A T114T + - Invasive Breast Cancer risk factor AD PD BD lithium response Type 2 DM Reported; lineage N marker except hg IJK 16140977, 16892079, 16895436, 17081685, 25199876, 26782384, 29997041, 30369864, 34045735, 14604458, 15234467, 17701054, 17288645, 18262047, 15211636, 18177933, 17066297, 17390150, 16452251, 27217714, 19763141 35453 57.2904 165 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 12618962, 15827561, 15786469, 16140977, 15483642, 16895436, 15975594, 17510395, 18679013, 23111160, 25199876, 28648514, 17620498, 34045735, 12670626, 17701054, 17288645, 18262047, 18286226, 18226984, 18177933, 20067846, 19390621, 15488317, 17627010, 17886251, 20043118, 18709563, 21457906, 17174475, 27217714, 28793231, 29987491, 31797714, 24917144, 31358833, 34120353, 35146807 26384 42.6353 150 10406 G A - + Mitochondrial myopathy Reported [VUS] 21263444, 31965079, 17588757 0 0.0000 381 10408 T C nr nr Unspecified patient from clinical lab Reported [VUS] 31965079 0 0.0000 474 10410 T C + - Possible maternally inherited hypertension risk factor Reported 33625761 284 0.4589 354 10411 A T + - Dilated Cardiomyopathy Reported 9344764 0 0.0000 355 10415 T C + - Dilated Cardiomyopathy Reported 9344764 0 0.0000 277 10437 G A - + Mitochondrial myopathy Reported 22781096 0 0.0000 146 10438 A G - + Progressive Encephalopathy Reported [VUS] 15286228 0 0.0000 398 10438 A T - + Non-dystrophic myopathy Reported 30430429 0 0.0000 280 10450 A G - + Combined OXPHOS defects & severe multisystem disorder Reported [VUS] 19809478 0 0.0000 181 10454 T C + - Possible deafness or maternally inherited hypertension risk factor Reported 27498855, 31965079, 16955413, 19818876, 22538251, 33625761 231 0.3733 382 10460 T C nr nr Unspecified patient from clinical lab Reported [VUS] 31965079 0 0.0000 149 10543 A G H25R - + LHON Reported 17003408 0 0.0000 150 10591 T G F41C - + LHON Reported 17003408 0 0.0000 522 10609 T C M47T nr nr Type 2 diabetes patients with underlying 3243G / LHON patient with 10663C Reported 24568867, 33402819 1505 2.4320 202 10652 T C I61I - + BD / MDD-associated Reported 19290059 56 0.0905 38 10663 T C V65A + - LHON Cfrm [LP] 8680405, 11935318, 16523671, 22879922, 24568867, 20301353, 29253894, 28991104, 15972314, 17003408, 18402672, 21457906, 29210930, 29987491, 31817256, 35778412, 36381806 2 0.0032 523 10676 C G C69W nr nr Type 2 cataract patients with underlying 3243G Reported 33402819 1 0.0016 197 10680 G A A71T + - LHON / synergistic combo 10680A + 12033G + 14258A Reported / possibly synergistic 29444077, 19394449, 20643099, 29987491, 22400981 18 0.0291 364 11042 T C Y95H - + Biliary atresia Reported 29343773 0 0.0000 365 11048 T : frameshift - + Biliary atresia Reported 29343773 0 0.0000 39 11084 A G T109A + + AD, PD MELAS Conflicting reports 1323207, 8213827, 23563965, 15972314, 21457906, 18468491, 29987491 224 0.3620 450 11150 G A A131T + - Found in a Multiple Sclerosis patient Reported 31798871 156 0.2521 78 11232 T C L158P - + CPEO Reported 14581685, 15972314, 18402672, 29987491, 32652755 0 0.0000 322 11240 C T L161F - + Leigh Syndrome Reported 27761019, 29987491 0 0.0000 397 11251 A G L164L nr nr Reduced risk of PD Reported 23645593, 30369864, 34060999 6026 9.7377 143 11253 T C I165T + - LHON PD Reported 12150954, 12271374, 20301353, 29253894, 10737123, 29987491, 36827238, 33652663 324 0.5236 260 11365 T C A202A + - found in HCM patient Reported 16266762 142 0.2295 309 11375 A C K206Q + - found in sCJD patient Reported 24667788 0 0.0000 488 11406 T A L216H - + MELAS Reported 32659360 0 0.0000 211 11467 A G L236L + - Altered brain pH / sCJD patients Reported [B] 19290059, 24667788, 31743754, 34060999 7930 12.8145 346 11470 A C K237N - + MELAS Reported 21850008 0 0.0000 451 11519 A C T254P + - ND4 mutation set found in a Multiple Sclerosis patient Reported 31798871 0 0.0000 452 11523 A C K255T + - ND4 mutation set found in a Multiple Sclerosis patient Reported 31798871 0 0.0000 453 11527 C T H256H + - ND4 mutation set found in a Multiple Sclerosis patient Reported 31798871 25 0.0404 275 11621 TA : frameshift - + CPEO, exercise intolerance Reported [VUS] 23463613, 32652755 0 0.0000 40 11696 G A V313I + + LHON / LDYT / DEAF / hypertension helper mut. Reported / possibly synergistic 8644732, 27159682, 20301353, 29253894, 16364244, 15972314, 17300996, 19818876, 17123466, 17922426, 21482521, 21457906, 17723226, 29987491, 29387390, 35104579 366 0.5914 77 11777 C A R340S - + Leigh Disease Cfrm [LP] 29428506, 16120329, 12707444, 15972314, 18402672, 15576045, 18977334, 20064630, 20502985, 21457906, 24642831, 30095618, 37038312 0 0.0000 41 11778 G A R340H + + LHON / Progressive Dystonia Cfrm [P] 2390098, 8680405, 1937476, 8448903, 1866007, 8240101, 8457609, 8255489, 1895564, 2575667, 2817063, 1734726, 8023847, 8118464, 7901141, 2286378, 1770665, 8320863, 2222273, 1900003, 8213820, 1444915, 8240103, 8270249, 8024249, 8023848, 1763894, 2346190, 1959619, 8250088, 8103501, 1353825, 8474822, 1635296, 8449667, 8489411, 2039048, 8053461, 2346203, 7916404, 8101084, 8401538, 8071952, 1575231, 8071960, 1770533, 2566116, 8240102, 8195807, 1977373, 1532593, 1352537, 2757028, 3201231, 8489402, 2566021, 1346348, 7617199, 7926004, 7707093, 7853025, 7770132, 7611298, 7635294, 7603534, 7924787, 7821467, 7832241, 7601652, 7649539, 7823072, 8165962, 7710535, 7629530, 7617193, 7977345, 7639060, 7735876, 7760326, 7814218, 7599218, 7801223, 7763260, 7612556, 9012411, 8659512, 10976107, 9125387, 9302261, 9541428, 9412783, 9685604, 9561832, 9541429, 9150158, 8662757, 10413253, 4003041, 10520236, 8755941, 10426138, 11169561, 11754070, 10939569, 11741983, 10611124, 12402249, 12402246, 12436196, 12560876, 11074292, 12446713, 12464729, 12379308, 16083845, 9175737, 15033723, 16431939, 16532388, 16380918, 17886296, 18216301, 18674747, 18771762, 11339587, 20728388, 17197509, 20471050, 21253496, 11001192, 17573650, 17296905, 19710181, 19525327, 19936068, 20837795, 20435583, 15883259, 21414825, 21788663, 21810891, 20628600, 20625049, 16083844, 18235013, 20491810, 22039503, 22110754, 22194643, 15342361, 20019878, 22410442, 21859767, 15629832, 15629831, 22523243, 21887510, 23297368, 7745422, 24369379, 23847141, 25192510, 25053773, 26438859, 26647310, 25338955, 25342621, 24457989, 24525545, 27127184, 26410888, 27159682, 27426279, 20301353, 22669418, 26959136, 27847334, 28040497, 28233183, 28481993, 28093355, 26404827, 29253894, 27071925, 12807863, 30081212, 29428506, 28991104, 28994349, 30369864, 31727544, 26892229, 32516135, 32969847, 34168607, 34146515, 33298565, 34969639, 37587338, 37878684, 37217751, 14750573, 12711217, 15026512, 14671420, 15126312, 15060117, 12409182, 14620678, 14748908, 16120371, 15707996, 11523562, 8931573, 15896721, 16050984, 8941270, 15972314, 16617593, 16624503, 16528519, 17003408, 17366829, 17460303, 17479363, 17724295, 8556281, 12464728, 17072496, 18363168, 18214789, 18320530, 15804271, 11331900, 12185132, 15548492, 10636656, 11162998, 16120433, 18070226, 18676632, 19026397, 15282189, 16829155, 17406640, 16972023, 15838728, 15728653, 18647627, 16120317, 10545708, 17300996, 16564802, 18619472, 19370763, 19319978, 10216058, 12888043, 11124301, 17942074, 18775412, 20064630, 20123042, 8600429, 8867076, 19268652, 20599858, 20211598, 20676915, 20454697, 20943885, 21067478, 20809775, 20232220, 19726426, 17292333, 19098324, 16148621, 11754915, 19255150, 16705513, 18806273, 20691156, 16477364, 20407791, 19800080, 19247386, 21063443, 21482521, 15720387, 20111055, 18848389, 21457906, 12815198, 16044424, 17204919, 21694444, 21397051, 20632027, 15282179, 22108605, 24404670, 26605371, 27746671, 27177320, 29049835, 27787713, 29116953, 29047345, 27721048, 26606867, 28219504, 29890302, 29983856, 25909222, 29587845, 30558558, 29427840, 28392196, 30572950, 31040363, 29133642, 30304398, 30936345, 30516647, 29955763, 30831606, 19015050, 27427386, 30597069, 21145289, 29387390, 28640805, 11579587, 31226990, 31817256, 28650878, 29189152, 27119776, 31718067, 29980632, 31584786, 30968497, 32740724, 31932089, 32723871, 31776719, 32704028, 27749593, 33552719, 33706792, 28314831, 29554000, 17122117, 12518276, 33185792, 33709232, 32991883, 33159657, 32991388, 32096343, 32220313, 32277753, 33584522, 32887465, 16331570, 33911213, 34108929, 33451738, 32284191, 29649796, 11853713, 32504279, 32259370, 31896800, 34573281, 34467602, 34122299, 34310464, 34584057, 34415266, 34417770, 32105823, 28716668, 28647203, 33477675, 11937918, 29454364, 10087740, 27631475, 34667002, 34673906, 34915201, 35190400, 35104579, 34670133, 8742999, 35723074, 12638016, 24508359, 33095398, 35623556, 35858578, 35791239, 35690699, 36361994, 36358916, 36565700, 36565701, 35778412, 36350566, 36827238, 37038312, 23091534, 37737178, 31939618, 37988592, 38346855, 38768545, 38710404, 23920046, 34060999, 37628761 190 0.3070 42 11832 G A W358Term - + EXIT / oncocytoma Reported 10360780, 15972314, 18402672, 11506394, 11782982, 20028790 0 0.0000 151 11874 C A T372N + - LHON Reported 17003408, 29987491 0 0.0000 560 11914 G A T385T nr nr Possible susceptibility to bullous pemphigoid Reported 31824475 6481 10.4730 119 11919 C T S387F + - Thyroid Cancer Cell Line Reported 15608681, 29987491 1 0.0016 371 11984 T C Y409H + - Leigh Syndrome Reported 19043581, 17022785 63 0.1018 178 11994 C T T412I + - Oligoasthenoteratozoospermia (OAT) Conflicting reports 17517394, 17069814, 29987491 0 0.0000 389 12015 T C L419P - + Atypical MELAS Reported 30949164, 31293567 3 0.0048 43 12026 A G I423V + - DM Reported 9519725, 15972314, 29987491, 19199242 270 0.4363 213 12027 T C I423T nr nr SZ-associated Reported 19290059, 14623372 2 0.0032 348 12033 A G N425S + - LHON synergistic combo 10680A + 12033G + 14258A Reported: individually neutral variants causing LHON in combination 29444077 22 0.0356 427 12063 C T T435I nr nr Recurrent pregnancy loss Reported 28696810 39 0.0630 407 12141 A G nr nr Reported in tic disorder patient Reported 33289513 9 0.0145 316 12146 A G + + MELAS Reported 21704194 0 0.0000 108 12147 G A - + MERRF-MELAS / Encephalopathy Cfrm [LP] 16483543, 31965079, 14967777, 15111688, 20064630, 19718780 0 0.0000 292 12148 T C - + Developmental delay, optic atrophy, cataract, hearing loss, myopathy Reported [VUS] 31965079, 23463613, 37961166 1 0.0016 463 12158 A G - + MELAS Reported 35092007, 24931247 0 0.0000 429 12167 T C nr nr Hearing loss patient Reported 32169613 2 0.0032 385 12182 A G + - Sclerosis-like symptoms + white matter alterations Author considered as VUS 30831263 2 0.0032 87 12183 G A - + RP + DEAF Reported [VUS] 12682337, 29253894, 19718780 1 0.0016 307 12187 C A + - Asthenozoospermia Reported 24931671 0 0.0000 430 12188 T C nr nr Hearing loss patient Reported 31965079, 16738010, 32169613 31 0.0501 88 12192 G A + - MICM / possible G15927A deafness modulator Reported 10621222, 12560876, 31965079, 30854964, 33552719 132 0.2133 286 12201 T C - + Maternally inherited non-syndromic deafness Cfrm [LP] 31965079, 21931169, 23463613, 31819004, 24920829, 33064405, 32169613, 22538251, 34991096 1 0.0016 299 12206 C T - + MELAS-like encephalopathy+bilateral optic atrophy Reported 23696415 0 0.0000 137 12207 G A - + Myopathy / Encephalopathy Reported [VUS] 12406974, 16950817, 27450679, 36967720 0 0.0000 195 12224 C T + - DEAF helper mutation Reported 19818876, 22538251 4 0.0065 431 12235 T C nr nr Hearing loss patient Reported 31965079, 32169613 230 0.3717 180 12236 G A + - DEAF Reported 23563965, 23847141, 31965079, 17637808, 22241583 445 0.7191 89 12246 C A nr nr CIPO Reported 1709275, 8129854 4 0.0065 90 12258 C A - + DMDF / RP+SNHL Cfrm [LP] 9792552, 10090882, 11938495, 15983868, 25652200, 29253894, 15126302, 17653689, 19718780 1 0.0016 383 12258 C T nr nr Unspecified patient from clinical lab Reported [VUS] 31965079 0 0.0000 285 12261 T C - + Myopathy+epilepsy+retinal degeneration+DEAF Reported 22378285 0 0.0000 276 12262 C A - + Progressive MM+Deafness+Seizures Reported 21257182, 32504279 0 0.0000 275 12264 C T + + Multisystem Disease with Cataracts / Myopathy+epilepsy+DEAF+atypical autism Reported [VUS] 22369973, 31965079, 22378285, 23920046 0 0.0000 477 12271 T C nr nr Unspecified mitochondrial disease Reported [VUS] 0 0.0000 159 12276 G A - + CPEO Cfrm [LP] 23847141, 31965079, 15591266, 15649400 1 0.0016 476 12278 T C - + MODY diabetes mellitus Reported 31965079, 38397113, 30671084 1 0.0016 408 12279 A G nr nr Reported in tic disorder patient Reported 33289513 261 0.4218 360 12280 A G + - Hypertension Reported 31965079, 30783460 95 0.1535 236 12283 G A - + CPEO Reported [VUS] 25652200, 19853445 1 0.0016 341 12293 G A - + Axial mitochondrial myopathy / EXIT+myalgia+ptosis Reported 31965079, 25223649, 32419253 0 0.0000 101 12294 G A - + CPEO / EXIT+Ophthalmoplegia Cfrm [VUS*] 14581685, 29052516 0 0.0000 111 12297 T C + + Dilated Cardiomyopathy / Leigh Syndrome / Failure to Thrive & LA Reported 21882289, 31965079, 11313776, 20064630, 19062322, 10602359 50 0.0808 139 12299 A C - + MELAS Reported 17092464 0 0.0000 152 12300 G A - + 3243 suppressor mutant Reported 9537417, 9817933, 10628996, 15328906, 32970680, 22538251, 16446307 0 0.0000 91 12308 A G + + CPEO / Stroke / CM / Breast & Renal & Prostate Cancer Risk / Altered brain pH /sCJD Reported [B] in hg K,U 8155739, 1709275, 1757091, 8079988, 8254046, 1910259, 1542564, 9384601, 11145497, 11406419, 16947981, 16773565, 16406974, 19290059, 18502698, 24667788, 31965079, 14571278, 11313776, 18709563 7912 12.7854 92 12311 T C + + CPEO Reported 7525879, 7804130, 16947981, 31965079 74 0.1196 99 12313 T C - + FSHD Reported 18343111 0 0.0000 93 12315 G A - + CPEO / KSS / possible carotid atherosclerosis risk, trend toward myocardial infarction risk Cfrm [LP] 9361028, 8923013, 10332036, 31965079, 12398839, 18977334, 20064630, 19718780, 28951770, 23631826, 29670672, 23395464, 23874496, 25834827, 31540444 0 0.0000 165 12316 G A - + CPEO / mitochondrial myopathy Cfrm [VUS*] 23847141, 18603265, 20163808 0 0.0000 300 12317 T C - + CPEO+ptosis+myopathy+exercise intolerance+diabetes Reported 23696415 1 0.0016 94 12320 A G - + MM Reported [VUS] 9012410, 9207784, 17886296, 25652200, 10611123, 19718780, 23631826 0 0.0000 439 12325 C : nr nr Hearing loss patient Reported [VUS] 32169613 0 0.0000 442 12334 G A - + CPEO Reported 32310184 0 0.0000 384 12335 T C nr nr Unspecified patient from clinical lab Reported 31965079 0 0.0000 179 12338 T C M1T + - DEAF1555 increased penetrance / LHON / MIDD Conflicting reports 21131053, 29579248, 15278763, 18386806, 19818876, 21482521, 21724059, 21419139, 29987491, 29387390, 34993838 205 0.3313 548 12350 C A T5N - + SNHL + neurodevelopmental delay Reported 27155156 0 0.0000 265 12361 A G T9A + - Non-alcoholic fatty liver disease Reported 22153811, 29987491 409 0.6609 210 12372 G A L12L + - Altered brain pH / sCJD patients; AD risk in certain haplogroups Reported [B] 19290059, 24667788, 36127429 8556 13.8261 255 12397 A G T21A + - PD, early onset Reported 21457906, 18524835, 29987491 380 0.6141 385 12414 T : frameshift nr nr EXIT Reported 23847141 0 0.0000 241 12425 A : frameshift - + Mitochondrial myopathy & renal failure Cfrm [LP] 20018511 2 0.0032 261 12477 T C S47S + - Possible HCM susceptibility Reported 16266762 318 0.5139 247 12622 G A V96I + + Leigh Disease Conflicting reports 17400793, 29987491, 32652755 10 0.0162 310 12631 T A S99T + - found in 2 sCJD patients Reported 24667788, 23735083 0 0.0000 115 12634 A G I100V + + Thyroid Cancer Cell Line Reported 27498855, 15608681, 29987491 242 0.3911 428 12662 A G N109S nr nr Recurrent pregnancy loss Reported 28696810 83 0.1341 375 12686 T A F117Y + - Dilated Cardiomyopathy Reported 9344764 0 0.0000 448 12705 C T I123I nr nr Possible protective factor for normal tension glaucoma Reported 30312593 24619 39.7831 84 12706 T C F124L - + Leigh Disease Cfrm [LP] 23847141, 14684687, 11938446, 15972314, 18402672, 20064630, 21457906, 17317336, 21364701, 30095618, 31996177, 32652755 0 0.0000 85 12770 A G E145G - + MELAS Reported [VUS] 29253894, 12509858, 15972314, 18332249, 21457906 1 0.0016 376 12778 G C G148R + - Dilated Cardiomyopathy Reported 9344764 0 0.0000 152 12782 T G I149S - + LHON Reported 17003408 0 0.0000 236 12811 T C Y159H + - Possible LHON factor Reported [B] 7901141, 19022198, 20301353, 29253894, 19026397, 8600429, 23304069, 29987491, 29387390, 33493461 715 1.1554 587 12814 G T A160S + - LHON Reported 38741249 3 0.0048 129 12848 C T A171V - + LHON Reported [VUS] 16240359, 20301353, 21457906 0 0.0000 536 12858 C A Y174Term nr nr Unspecified suspected mitochondrial disorder Reported 32652755 0 0.0000 584 12923 G A W196Term nr nr LHON/MELAS/LS Reported 0 0.0000 433 12955 A G N207D - + EXIT and developmental delay Reported 26014388 0 0.0000 156 13042 G A A236T - + Optic neuropathy/ retinopathy/ LD Cfrm [LP] 29253894, 15382008, 16816025, 18332249, 15767514, 17400793, 21457906, 31996177, 35778412 2 0.0032 570 13045 A G M237V - + MELAS Reported 31639449 0 0.0000 86 13045 A C M237L - + MELAS / LHON / Leigh overlap syndrome Reported [VUS] 12509858, 15972314, 18332249, 21457906 1 0.0016 345 13046 T C M237T - + LHON/MELAS overlap syndrome Cfrm [LP] 34969639, 26894521, 21850008, 31996177, 32652755 0 0.0000 126 13051 G A G239S + - LHON Cfrm [VUS*] 12736867, 27164671, 32652755, 38357617 0 0.0000 163 13063 G A V243I - + Adult-onset Encephalopathy / Ataxia Reported [VUS] 17535832, 18332249, 18977334, 32652755 2 0.0032 44 13084 A T S250C - + MELAS / Leigh Disease Reported [VUS] 12796552, 15972314, 21457906, 37038312, 33062892 0 0.0000 418 13091 T C M252T - + MELAS+Migraine Reported 31996177 0 0.0000 191 13094 T C V253A + + Ataxia+PEO / MELAS, LD, LHON, myoclonus, fatigue Cfrm [P] 33763872, 18977334, 22577219, 22249460, 21364701, 29479304, 29506874, 29987491, 31226990, 28429146, 34135385, 31665838, 37038312 1 0.0016 263 13135 G A A267T + - Possible HCM susceptibility Reported 19473338, 29987491 589 0.9518 485 13138 G A E268K + - Possible LHON modulator Reported 31743754 0 0.0000 383 13204 G A V290I + - Peripheral neuropathy of T2 diabetes Reported 20454697, 21281460, 24456990 42 0.0679 596 13268 G A G311E nr nr Possible ROS inducer-triggered lung cancer cell death Reported 40181542 0 0.0000 276 13271 T C L312P - + Exercise intolerance (EXIT) Reported 23065728, 18396045 1 0.0016 361 13276 A G M314V + - MIDD+retinopathy Conflicting reports 28890306, 27422531 1662 2.6857 585 13289 G A G318D nr nr MELAS Reported 0 0.0000 518 13340 T C F335S + - LHON Reported 34177762 1 0.0016 487 13345 G A A337T + - LHON Reported 0 0.0000 419 13376 T C I347T + - MELAS w medial temporal lobe atrophy Reported 31689606, 31830610 1 0.0016 153 13379 A C H348P + - LHON Reported [VUS] 39843744, 17003408 0 0.0000 519 13379 A G H348R + - LHON Cfrm [VUS*] 31669237, 34177762 0 0.0000 246 13511 A T K392M - + Leigh-like syndrome Reported 17400793, 27450679, 29987491 0 0.0000 45 13513 G A D393N - + Leigh Disease / MELAS / LHON-MELAS Overlap Syndrome / negative association w Carotid Atherosclerosis Cfrm [P] 9299505, 10589546, 11198278, 12624137, 10908920, 18674747, 16483543, 24667782, 23847141, 25192510, 27919073, 29428506, 34146515, 34298071, 23010433, 14520659, 14730434, 15382008, 15972314, 18332249, 18402672, 15576045, 18977334, 19370763, 19617458, 20064630, 19268652, 17400793, 18495510, 19054921, 20408961, 21174521, 20972245, 21457906, 24642831, 21364701, 21850008, 27450679, 28951770, 30095618, 29228836, 29670672, 23874496, 30128709, 30461153, 31669237, 31996177, 30950033, 32220313, 33746872, 33717984, 28429146, 24931247, 26741492, 34670906, 35778412, 37038312, 36975485, 37737178, 38465286, 31687263, 23920046 1 0.0016 46 13514 A G D393G - + Leigh Disease / MELAS / Ca2+ downregulation Cfrm [LP] 11198278, 23847141, 14684687, 15521990, 15972314, 18332249, 18402672, 15576045, 18977334, 20064630, 20972245, 21712854, 30095618, 29987491, 26206091, 32504279, 37038312 0 0.0000 47 13528 A G T398A + - LHON-like, LHON, MELAS Reported [LB] 11102991, 11938495, 15972314, 19370763, 19103152, 22589247, 17940288, 18477584, 29987491, 32094358, 32652755, 34599203, 26735972, 28419775, 31594508 74 0.1196 564 13565 C T S410F + - Found in MELAS patient Reported 11938495, 19370763, 17940288, 18477584, 26735972, 27110715 75 0.1212 116 13580 C G A415G - + Thyroid Cancer Reported 15608681 0 0.0000 475 13590 G A L418L nr nr Possible protective factor for high altitude sickness Reported 23096691 3341 5.3989 588 13615 A G I427V - + LHON Reported 38741249 9 0.0145 238 13637 A G Q434R + - Possible LHON factor Reported 7901141, 24319328, 20301353, 29253894 595 0.9615 511 13702 C G R456G nr nr Possible LHON helper (one 14484 patient) Reported 11853713 20 0.0323 48 13708 G A A458T + + LHON / Increased MS risk / higher freq in PD-ADS Conflicting reports 8680405, 1634041, 1732158, 8163275, 1550131, 1900003, 8213820, 1764087, 1417830, 8024249, 1463007, 8053461, 8071952, 7770132, 7635294, 7710535, 7977345, 7814218, 7599218, 7763260, 8741876, 8978068, 9561330, 9150158, 10520236, 8755941, 11935318, 12618962, 12150954, 11339587, 27498855, 30369864, 36322731, 16050984, 15972314, 10737123, 18270557, 10545708, 18619472, 10424809, 10216058, 8600429, 21067478, 21288980, 21457906, 21694444, 28341142, 29987491, 27119776, 32887465, 34573281 4580 7.4011 512 13712 C T A459V nr nr Possible LHON helper (one 11778 patient) Reported 11853713 11 0.0178 49 13730 G A G465E - + LHON Reported [VUS] 8213825, 7760326, 20301353, 8899049, 8593537, 15972314, 21457906, 12638016 0 0.0000 506 13759 G A A475T + - Possible LHON factor Reported 16331570 2179 3.5212 117 13831 C A L499M - + Thyroid Cancer Cell Line Reported 15608681, 29987491 3 0.0048 192 13849 A C N505H + - MELAS Reported - possibly secondary 18587274, 29987491 1 0.0016 580 13966 A G T544A + - Greater risk with hg X of end-stage kidney disease Reported 38858654 855 1.3816 239 13967 C T T544M + - Possible LHON factor Reported 7901141, 2567271, 8600429, 29987491 184 0.2973 456 14002 A G T556A + - High altitude pulmonary edema susceptibility Reported 31358833 143 0.2311 307 14063 T C I576T + - Potentially functional variant cosegregating with LHON3635A Reported 23304069, 29987491 24 0.0388 274 14091 A T K585N - + Developmental delay, seizure, hearing loss, diabetes Reported 23463613, 29987491 0 0.0000 266 14163 C T A171T + - Possible deafness factor Conflicting reports 21838605, 21504270, 29987491 13 0.0210 429 14179 A G Y165Y nr nr Recurrent pregnancy loss Reported 28696810 325 0.5252 349 14258 G A P139L + - LHON synergistic combo 10680A + 12033G + 14258A also combo 14258A + 14582G Reported: individually neutral variants causing LHON in combination 29444077 31 0.0501 430 14263 C T E137E nr nr Recurrent pregnancy loss Reported 28696810 6 0.0097 125 14279 G A S132L + - LHON Reported 15922297, 19047048, 20301353, 18806273, 29987491, 32652755, 26735972 7 0.0113 256 14319 T C N119D + - PD, early onset Reported 21457906, 18524835, 29987491 81 0.1309 127 14325 T C N117D + - LHON Reported 12736867, 20301353, 29987491 57 0.0921 95 14340 C T V112M + - SNHL Reported 15637703, 29987491 23 0.0372 502 14342 C A G111V - + Possible association with sepsis Reported 33504965 0 0.0000 549 14351 T C E108G - + SNHL + neurodevelopmental delay Reported 27155156 2 0.0032 118 14430 A G W82R + - Thyroid Cancer / Leigh Syndrome Reported 15608681, 32432562 0 0.0000 578 14430 A C W82G - + Leigh Syndrome Reported 38571879 0 0.0000 313 14439 G A P79S + - LS / Mitochondrial Respiratory Chain Disorder Reported 25356405, 29987491, 28429146 0 0.0000 401 14441 T C Y78C nr nr Leigh-like phenotype Reported 28862604 0 0.0000 50 14453 G A A74V - + MELAS / Leigh Disease Cfrm [LP] 11781695, 15972314, 21457906, 24642831, 21364701, 29987491, 32552696, 33644659, 32652755, 34933128 0 0.0000 51 14459 G A A72V + + LDYT / Leigh Disease / dystonia / carotid atherosclerosis risk Cfrm [P] 8680405, 8016139, 7654063, 8622678, 7760326, 10072046, 10426138, 10894222, 12205655, 18674747, 22879922, 23847141, 24398099, 20301353, 29253894, 29408632, 37587338, 15126312, 14520659, 14735585, 14735584, 15972314, 18402672, 20064630, 19268652, 21067478, 21457906, 21364701, 28951770, 30095618, 29670672, 23874496, 25834827, 19714555, 21749722, 29987491, 30128709, 30461153, 31221418, 32045392, 32220313, 33717984, 28429146, 26741492, 37038312, 34536563 3 0.0048 524 14465 G A T70I - + LHON / various supected mitochondrial disease Cfrm [LP] 34264415, 32652755, 34536563, 37628761 0 0.0000 52 14482 C A M64I + + LHON Cfrm [LP] 12112086, 12150954, 16532388, 22879922, 20301353, 29253894, 15972314, 11931086, 18402672, 19319978, 21457906, 29987491, 17122117 2 0.0032 53 14482 C G M64I + + LHON Cfrm [LP] 9443868, 21887510, 20301353, 15972314, 18402672, 20064630, 29987491, 8742999 0 0.0000 54 14484 T C M64V + + LHON Cfrm [P] 8680405, 1732158, 2018041, 8470982, 8213820, 1417830, 1463007, 8071952, 7853025, 7770132, 7611298, 7604366, 7635294, 7603534, 7821467, 7823072, 7977345, 7735876, 7760326, 7599218, 7612556, 9012411, 8659531, 8659512, 10976107, 9484365, 9339703, 9302261, 9412783, 9561832, 9150158, 9177303, 9852675, 8533781, 10072046, 10520236, 7877803, 8755941, 10426138, 11754070, 11741983, 11938495, 12112086, 12205655, 12436196, 12446713, 12464729, 12749053, 12827453, 12379308, 16083845, 15033723, 16523671, 16532388, 16380918, 17886296, 18674747, 19047048, 20074547, 11339587, 20471050, 21253496, 11001192, 19710181, 19525327, 19936068, 15883259, 21788663, 21810891, 20628600, 17894548, 18235013, 20491810, 22194643, 15342361, 22410442, 21859767, 15629832, 15629831, 21887510, 24369379, 23111160, 22749828, 25192510, 25053773, 25338955, 24398099, 27127184, 20301353, 27847334, 28040497, 28233183, 28481993, 26404827, 29253894, 27071925, 12807863, 30081212, 29428506, 28991104, 28994349, 30369864, 31619779, 31619780, 34168607, 33360266, 37587338, 37878684, 12711217, 14671420, 15126312, 12724691, 15060117, 14748908, 15467980, 11523562, 8931573, 16050984, 15954041, 8941270, 15972314, 17479363, 12464728, 15635488, 17334960, 18214789, 18344382, 18402672, 15483043, 18320530, 11331900, 15548492, 11504997, 11450909, 16120433, 18070226, 15282189, 16829155, 17406640, 16972023, 19394449, 18440284, 16120317, 16806060, 10545708, 16564802, 19370763, 19319978, 11124301, 17942074, 20064630, 20123042, 19268652, 20599858, 20211598, 20943885, 21067478, 20809775, 17292333, 19733221, 17403843, 19098324, 17452034, 15272763, 19255150, 18806273, 19800080, 20976138, 19247386, 15720387, 21457906, 21694444, 21397051, 15282179, 21685233, 22258525, 23674761, 26605371, 27746671, 27177320, 27787713, 27721048, 29336589, 29983856, 25909222, 28392196, 31040363, 29133642, 29249004, 29387390, 11579587, 31817256, 29189152, 29980632, 31932089, 31776719, 32704028, 33552719, 33706792, 28314831, 17122117, 12518276, 32991883, 33159657, 32991388, 32220313, 33584522, 33911213, 28455970, 11853713, 34573281, 34122299, 34415266, 32105823, 28716668, 33477675, 29454364, 34673906, 34915201, 35104579, 34670133, 8742999, 33101779, 34732400, 35723074, 12638016, 36051150, 24508359, 10631164, 35773337, 29996615, 27741086, 35567411, 33095398, 35623556, 35130313, 30881859, 23063736, 27803870, 30201499, 8582049, 28944608, 31605306, 30008192, 17899121, 32861874, 28761322, 21928272, 27582625, 30712826, 30822445, 31482278, 23665487, 32111141, 31566038, 35858578, 36361994, 36565700, 36565701, 36737829, 36827238, 37038312, 37537557, 37988592, 38346855, 39264244, 23920046, 37628761 69 0.1115 81 14487 T C M63V - + Dystonia / Leigh Disease / ataxia / ptosis / epilepsy Cfrm [P] 17535832, 24126373, 23847141, 23010433, 14595656, 14520668, 14684687, 15972314, 18402672, 15576045, 18977334, 20064630, 20019223, 19062322, 16337195, 20972245, 21457906, 21196529, 15625630, 16044424, 19103152, 21364701, 30095618, 29987491, 30128709, 30461153, 28122886, 23813926, 33706792, 26530508, 32162843, 34223155, 28429146, 26741492, 30741831, 27338358, 35715829, 31665838, 37038312 0 0.0000 55 14495 A G L60S - + LHON Cfrm [LP] 11133798, 16380918, 22879922, 20301353, 29253894, 15972314, 21457906, 21397051, 17122117, 33779865 2 0.0032 56 14498 T C Y59C + + LHON Reported 9177303, 8854108, 20301353, 15972314 0 0.0000 214 14502 T C I58V + - LHON Reported - possibly synergistic 24398099, 15896721, 18440284, 20691156, 19732751, 29987491, 27427386, 29387390, 32045392, 33858285 211 0.3410 416 14512 TA : frameshift - + EXIT w mild myopathy & hyperCKaemia Cfrm [LP] 32158465 0 0.0000 386 14535 C CC frameshift nr nr DMDF Reported 23847141 1 0.0016 520 14538 A G F46L + - LHON Reported 34177762, 37628761 0 0.0000 57 14568 C T G36S + - LHON Cfrm [LP] 9177303, 10447650, 12150954, 22879922, 20301353, 29253894, 12324878, 15972314, 19319978, 20064630 6 0.0097 168 14577 T C I33V - + MIDM Reported 10909988 430 0.6949 350 14582 A G V31A + - LHON synergistic combo 14258A + 14582G Reported: individually neutral variants causing LHON in combination 29444077 355 0.5737 58 14596 A T I26M + - LHON with hereditary spastic dystonia Reported [VUS] 8644732, 20301353, 15972314, 17123466, 29987491 0 0.0000 404 14597 A G I26T - + LHON / LS Cfrm [LP] 31669237, 34045482 0 0.0000 568 14598 T C I26V + - PD / LS Reported [VUS] 24002810, 23463613 7 0.0113 164 14600 G A P25L + + Leigh Disease w/optic atrophy / mouse model Reported 17535832, 23129651, 33536343, 40036074, 18977334, 37038312, 33514727, 28708239 0 0.0000 203 14668 C T M2M + - Depressive Disorder associated Reported 19290059 2424 3.9171 239 14674 T G + - Reversible COX deficiency myopathy Reported [VUS] 21194154, 23814040, 25407320 0 0.0000 216 14674 T C + - Reversible COX deficiency myopathy Cfrm [LP] 8155739, 29253894, 31965079, 16150714, 19720722, 21194154, 32970680, 33128823, 34732400, 34806237, 33832841, 21931168, 31333056, 23814040, 25407320 10 0.0162 190 14680 C A - + Mitochondrial encephalomyopathy Reported 17715279 0 0.0000 327 14685 G A - + Cataracts w spastic paraparesis & ataxia Reported 23334599 0 0.0000 143 14687 A G + - Mito myopathy w respiratory failure; intellectual disability Reported 16773565, 31965079, 12760436, 29340697, 28429146 375 0.6060 184 14692 A G + - LHON helper / Maternally inherited diabetes & deafness /tic disorder Reported [VUS] 8728098, 27544295, 27519417, 33289513, 32169613, 34991096 25 0.0404 142 14693 A G + + MELAS / LHON / DEAF / hypertension helper Reported 16947981, 23563965, 31965079, 14571459, 16364244, 16955413, 18708405, 17434142, 19818876, 19376484, 16331560, 16414144, 29387390, 22538251, 33552719, 34053002, 33840063, 34120304, 39264244 353 0.5704 145 14696 A G - + Progressive Encephalopathy Reported 31965079, 15286228 84 0.1357 465 14701 C T + - Reversible infantile respiratory chain deficiency (RIRCD) Reported 34400372 0 0.0000 95 14709 T C + + MM+DMDF / Encephalomyopathy / Dementia+diabetes+ophthalmoplegia Cfrm [LP] 7726154, 7726155, 9353617, 11938495, 12393175, 10392369, 10220138, 15880407, 15983868, 17886296, 25652200, 29253894, 31965079, 15126302, 11437868, 15048886, 15607216, 17653689, 20045353, 20064630, 22577219, 22249460, 19199242, 32313153, 23301511, 26469001, 32948797, 22538251 1 0.0016 155 14710 G A - + Encephalomyopathy + Retinopathy Cfrm [VUS*] 23847141, 31965079, 11506394, 15670724, 20064630, 19718780 0 0.0000 306 14721 G A - + Isolated complex I deficiency Reported 24667782 0 0.0000 234 14723 T C - + CPEO + Myopathy Reported 20810132, 22258525 0 0.0000 141 14724 G A - + Mito Leukoencephalopathy Reported [VUS] 23847141, 17266923, 19718780 0 0.0000 317 14728 T C - + Late-onset mitochondrial encephalomyopathy Reported 17897888 0 0.0000 144 14739 G A - + EXIT Reported [VUS] 31965079, 17056256, 19718780 1 0.0016 474 14783 T C L13L nr nr Possible role in high altitude sickness Reported 33420243 12770 20.6357 59 14787 TTAA : frameshift - + PD / MELAS Cfrm [LP] 9894888 0 0.0000 142 14831 G A A29T + - LHON Reported 12150954, 20301353 115 0.1858 215 14841 A G N32S - + LHON helper mut. Reported 19555656 21 0.0339 60 14846 G A G34S - + EXIT / possibly antiatherogenic, poss. myocardial infarction association Reported [VUS] 10502593, 14520667, 11506394, 11782982, 21457906, 28951770, 29670672, 23874496, 25834827 0 0.0000 61 14849 T C S35P - + EXIT / Septo-Optic Dysplasia Cfrm [VUS*] 11891837, 21457906, 20544923 0 0.0000 289 14864 T C C40R - + MELAS Reported 22638077 3 0.0048 373 14894 T C F50L nr nr LHON Reported 10663786 8 0.0129 538 14970 A G Y75C nr nr LHON Reported 7 0.0113 235 15024 G A C93Y + - Possible DEAF modifier Reported 20153673, 37562966 39 0.0630 204 15043 G A G99G + - MDD-associated / possible factor in high altitude sickness Reported 19290059, 33420243 14241 23.0128 62 15059 G A G105Term - + MM / carotid atherosclerosis risk / essential hypertension Reported 9894887, 10502593, 28951770, 29670672, 23395464, 23874496, 23158979 0 0.0000 480 15060 G A G105E + - Mitochondrial Respiratory Chain Disorder Reported 28027978 0 0.0000 200 15077 G A E111K + - DEAF / LHON / helper mutation for maternally inherited hypertension Reported 17637808, 22241583, 31817256, 34346491 135 0.2182 63 15084 G A W113Term - + EXIT Reported 10502593, 14520667 0 0.0000 288 15092 G A G116S - + MELAS Reported 25125337 0 0.0000 64 15150 G A W135Term - + EXIT Cfrm [LP] 11464242 0 0.0000 393 15153 G A G136D - + Suspected mito disease Reported 27450679 6 0.0097 394 15158 A G M138V - + Suspected mito disease Reported 27450679 0 0.0000 72 15168 G A W141Term - + EXIT Reported 10502593, 14520667 0 0.0000 291 15170 G A G142Term - + EXIT Reported 14506725 0 0.0000 65 15197 T C S151P - + EXIT Reported [VUS] 11464242, 21457906 0 0.0000 503 15200 G T A152S - + Possible factor in sepsis Reported 33504965 0 0.0000 292 15209 T C Y155H + - Prader-Willi syndrome Reported 24771578 7 0.0113 582 15215 G A G157Term nr nr MELAS Reported 0 0.0000 486 15218 A G T158A + - Possible LHON modulator Reported 31743754 1100 1.7775 398 15234 G A W163Term nr nr Leigh stroke-like leukodystrophy Reported 23847141 0 0.0000 513 15236 A G I164V nr nr Possible LHON helper (one 11778 patient) Reported 11853713 906 1.4641 308 15237 T C I164T + - Potentially functional variant cosegregating with LHON3635A Reported 23304069 7 0.0113 66 15242 G A G166Term - + Mitochondrial Encephalomyopathy Cfrm [LP] 9643969, 11047755 0 0.0000 67 15243 G A G166E - + HCM Reported 10453733, 34969639, 20064630 0 0.0000 481 15246 G A G167D - + Mitochondrial Respiratory Chain Disorder Reported 28027978 0 0.0000 384 15256 A G V170V + - Peripheral neuropathy of T2 diabetes Reported 24456990 3 0.0048 68 15257 G A D171N + - LHON Conflicting reports 8680405, 1634041, 1732158, 8163275, 8240104, 8417984, 7901141, 8213820, 1764087, 8321540, 1463007, 8053461, 8076942, 7770132, 7635294, 7733466, 7710535, 7977345, 7760326, 7814218, 7599218, 9561330, 9302261, 9150158, 9719386, 10520236, 8755941, 11464242, 11935318, 12483296, 12150954, 18931934, 11339587, 23563965, 30369864, 15060117, 8899049, 16050984, 18647627, 10545708, 10424809, 8600429, 21067478, 21457906, 32887465 935 1.5109 217 15287 T C F181L - + Possible DEAF helper mut. Reported; hg I6a & H10c marker 17999439, 32887465 116 0.1875 473 15301 G A L185L nr nr Possible factor in high altitude sickness, LHON Reported 33420243, 16331570 16954 27.3969 514 15324 C G A193G nr nr Possible LHON helper (one 11778 patient) Reported 11853713 0 0.0000 504 15350 G A E202K - + Possible sepsis factor Reported 33504965 0 0.0000 237 15395 A G K217E + - Possible LHON factor Reported 19022198 2 0.0032 476 15436 C A L230L nr nr Possible role in high altitude sickness Reported 23096691 3 0.0048 283 15453 T C L236P + - Isolated complex III deficiency Reported 24667782 11 0.0178 586 15485 C T P247S nr nr Suspected mitochondrial disorder Reported 0 0.0000 93 15497 G A G251S + - EXIT / Obesity Reported 12905068, 15126279, 15052619, 21457906, 17015183 338 0.5462 70 15498 24bp_deletion GDPDNYTL-del - + EXIT Reported 10502593, 11506394 0 0.0000 69 15498 G A G251D - + DEAF / Infantile histiocytoid cardiomyopathy Reported 10960495, 29253894, 15126279, 20064630, 20111055, 18848389, 21457906, 32652755 15 0.0242 79 15579 A G Y278C - + Multisystem Disorder, EXIT Cfrm [VUS*] 11601507, 21457906, 23376095, 23418307, 32652755 0 0.0000 71 15615 G A G290D - + EXIT / Antimycin resistance Reported [VUS] 8910895, 8988236, 21457906, 32652755 0 0.0000 337 15620 C A L292I - + Leigh Syndrome helper mut Reported 24062162 0 0.0000 290 15635 T C S297P + + Polyvisceral failure / adult Leigh syndrome Reported 19563916 2 0.0032 293 15649 18bp_deletion ILAMIP-del - + Multisystem Disorder, EXIT Reported 24863938 0 0.0000 232 15662 A G I306V + + Complex mitochondriopathy-associated Reported 10894993 204 0.3297 154 15674 T C S310P + - LHON Reported 17003408, 21196529 166 0.2682 231 15693 T C M316T + - Possibly LVNC cardiomyopathy-associated Reported 20211276 764 1.2346 135 15699 G C R318P - + Muscle Weakness SNHL and Migraine Reported 23847141, 16008558 0 0.0000 73 15723 G A W326Term - + EXIT Reported 10502593 0 0.0000 223 15761 G A G339Term + MM Reported 12686403 0 0.0000 74 15762 G A G339E - + MM Reported 9818877 0 0.0000 174 15773 G A V343M + - LHON Reported - possibly synergistic 18216301 75 0.1212 316 15784 T C P346P + - POAG - potential for association Reported 24694284, 27217714, 24102601 2017 3.2594 180 15800 C T Q352Term - + EXIT / Myopathy Reported 11731284, 18977334 0 0.0000 372 15804 T C V353A + - Fibromyalgia Reported 26566881, 32652755 39 0.0630 75 15812 G A V356M + - LHON Reported / Secondary 8680405, 1634041, 7901141, 1764087, 1463007, 7770132, 7635294, 7977345, 7599218, 9561330, 9150158, 30369864, 15060117, 8899049, 16050984, 10894993, 8600429, 21067478, 21457906, 27217714, 32887465 516 0.8338 356 15894 G A + - Gout Reported 31965079, 29976239 40 0.0646 443 15897 G A + - Maternally inherited diabetes (MID) Reported 31965079, 32083134 0 0.0000 432 15901 A G nr nr Hearing loss patient Reported 32169613 10 0.0162 433 15902 A G nr nr Hearing loss patient Reported 32169613 10 0.0162 472 15904 C T nr nr Protective factor for stroke risk (hg V) Reported 37793469 1003 1.6208 182 15908 T C + - DEAF helper mutation Reported 31965079, 16955413, 19818876, 22538251 213 0.3442 361 15909 A G + - Hypertension Reported 31965079, 29129694, 27544295 6 0.0097 409 15910 C T + - Tic disorder patient / hearing loss patient / coronary heart disease Reported 33289513, 32169613, 31842766 33 0.0533 96 15915 G A - + Encephalomyopathy Reported [VUS] 8769114, 9367299, 31965079, 32970680 1 0.0016 97 15923 A G + + LIMM / MERRF / mito disease Cfrm [LP] 1379415, 1645537, 8511015, 22638997, 30236074 0 0.0000 98 15924 A G nr nr LIMM Reported 1379415, 2043137, 1645537, 10680807, 16773565, 27498855, 31965079, 37845428 2181 3.5244 435 15926 C T nr nr Hearing loss patient Reported 23847141, 32169613 9 0.0145 126 15927 G A + - LHON / Multiple Sclerosis / DEAF1555 increased penetrance / CHD Reported 9113500, 10680807, 23563965, 23736300, 26782414, 31965079, 8899049, 18386806, 18820594, 19818876, 24470521, 29225014, 30541130, 30854964, 18930888, 22538251, 33552719, 34053002, 34120304, 34991096, 37845428 596 0.9631 127 15928 G A + + Multiple Sclerosis / idiopathic repeat miscarriage / AD protection Reported 9113500, 10377009, 10680807, 16773565, 23563965, 31965079, 8899049 3199 5.1694 473 15930 G A + - Possible DEAF risk factor Reported 32400865 1312 2.1201 335 15933 G A + - Suspected mito disease Reported 28187756 0 0.0000 206 15942 T C + - Possibly LVNC-associated Reported 31965079, 20211276 441 0.7126 264 15944 T : + - MM Conflicting reports 9832049, 31965079, 18178636 868 1.4026 410 15948 A G nr nr Reported in tic disorder patient Reported 33289513 5 0.0081 188 15950 G A + + LHON / LHON-MS / dopaminergic nerve cell death (PD) / tic disorder Reported 31965079, 10369889, 33289513, 35808913 4 0.0065 131 15951 A G + - LHON / LHON modulator Conflicting reports 19022198, 23563965, 31965079, 16624503, 26000946, 21983721, 29387390, 33552719, 34053002, 34120304 418 0.6755 411 15952 C T nr nr Reported in tic disorder patient Reported 33289513 5 0.0081 390 15958 A T - + Severe myopathy / EXIT Reported [VUS] 32419253, 27816331 0 0.0000 189 15965 A G + - Dopaminergic nerve cell death (PD) Reported 31965079, 10369889 12 0.0194 235 15967 G A - + MERRF-like disease Reported [VUS] 31965079, 19273760, 19718780 0 0.0000 187 15975 C T - + Ataxia+RP+deafness Reported 19223931 0 0.0000 441 15986 G GG LHON modulator Reported 33552719, 31743754, 32991883 0 0.0000 100 15990 C T - + MM / PEO Cfrm [LP] 8190311, 7689388, 9421512, 19718780, 32305257 0 0.0000 412 15992 A G nr nr Maternally inherited hypertension / tic disorder patient / hearing loss patient Reported 33289513, 32169613, 34346491 5 0.0081 394 15992 A T + - Exercise-induced muscle swelling and fatigue Reported 32802947 1 0.0016 117 15995 G A - + Mitochondrial cytopathy Reported 12406974, 31965079, 12400067 0 0.0000 437 15997 T C nr nr Hearing loss patient Reported 32169613 0 0.0000 332 15998 A T - + Mitochondrial myopathy Reported 27536729 0 0.0000 191 16002 T C - + Mitochondrial cytopathy Reported [VUS] 31965079, 11196116 0 0.0000 333 16015 T C - + Mitochondrial myopathy Reported 27536729 0 0.0000 305 16018 T TTCTCTGTTCTTTCAT - + Dilated cardiomyopathy (15 bp dup), alternate notation Reported 31965079, 22954281 0 0.0000 334 16021 CT : - + Mitochondrial myopathy Reported 27536729 0 0.0000 301 16023 G A - + Migraine +pigmentary retinopathy +deafness +leukariosis Reported 23696415, 34969639, 30876822 0 0.0000 302 16032 T TTCTCTGTTCTTTCAT - + Dilated cardiomyopathy (15 bp dup), alternate notation Reported 22954281 2 0.0032 561 16051 A G noncoding nr nr Possible susceptibility to bullous pemphigoid Reported 31824475 1587 2.5645 302 16081 A G noncoding - + Cyclic Vomiting Syndrome Reported 15368478 2 0.0032 301 16093 T C noncoding - + Cyclic Vomiting Syndrome / Increased risk of breast cancer Reported 15368478, 31143779, 37798736 3589 5.7997 300 16129 G A noncoding - + Cyclic Vomiting Syndrome with Migraine Reported 15368478 8063 13.0294 562 16162 A G noncoding nr nr Possible susceptibility to bullous pemphigoid Reported 31824475 1170 1.8907 299 16176 C T noncoding - + Cyclic Vomiting Syndrome with Migraine Reported 15368478 499 0.8064 296 16183 A C noncoding nr + Melanoma patients Reported 22174736 7993 12.9163 505 16188 C CC noncoding - + Possible association with sepsis Reported 33504965 30 0.0485 76 16189 T C noncoding + - Diabetes / Cardiomyopathy /cancer risk / mtDNA copy nbr / Metabolic Syndrome / Melanoma patients Reported 9820026, 12045211, 12421439, 11418155, 9498630, 15880407, 12872259, 16271646, 15972579, 16892079, 19397801, 23702607, 16142453, 18679013, 21146361, 23465694, 12147150, 17066297, 17390150, 22281886, 22174736, 11472454, 16784794, 21298061, 17535991, 16331560, 15965046, 11798951, 17032725, 16414144, 18251004, 29182103, 29765483 15259 24.6578 297 16192 C T noncoding nr nr Melanoma patients Reported 22174736 2703 4.3679 353 16217 T C noncoding + - Endometriosis Reported 29124462 4357 7.0407 563 16263 T C noncoding nr nr Possible susceptibility to bullous pemphigoid Reported 31824475 592 0.9566 298 16270 C T noncoding nr nr Melanoma patients Reported 22174736 3037 4.9076 573 16298 T C noncoding nr nr Protective factor for stroke risk (hg V) Reported 37793469 4175 6.7466 209 16300 A G noncoding + - BD-associated Reported 19290059, 20837494 315 0.5090 340 16318 A C noncoding nr nr Non-alcoholic steatohepatitis - potential for association Reported 109 0.1761 317 16390 G A noncoding + - POAG - potential for association Reported 24694284, 27217714, 24102601 3331 5.3827 257 16519 T T noncoding + - Cyclic Vomiting Syndrome with Migraine /metastasis Reported 19368653, 25332060, 19220304, 22174736 23186 37.4675