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 1123 1.84 205 114 C T noncoding + - BD-associated Reported 19290059 262 0.43 355 146 T C noncoding + - Absence of Endometriosis Reported 29124462 11524 18.85 166 150 C T noncoding + + Longevity / Cervical Carcinoma / HPV infection risk Conflicting reports 11404057, 12538859, 12606714, 15483642, 16857160, 21319252, 21262335, 21385627, 29467576 7922 12.96 206 195 T C noncoding + + BD-associated / melanoma pts Reported 19290059, 22174736, 27217714 11580 18.94 294 309 C CCC noncoding nr nr Higher in melanoma patient group Reported 22174736 244 0.40 218 309 C CC noncoding nr nr AD-weakly associated Reported 19703591 695 1.14 447 310 T C noncoding Possible protective factor for normal tension glaucoma Reported 30312593 24473 40.03 295 315 C CC noncoding nr nr Melanoma patients Reported 22174736 18470 30.21 517 351 A G noncoding nr nr Patient with CPEO Reported 32504279 0 0.00 354 499 G A noncoding + - Endometriosis / possible protective factor for high altitude sicknes Reported 29124462, 23096691 2319 3.79 363 547 A T noncoding + - Tubulointerstitial kidney disease Reported 28267784 0 0.00 356 573 C CCC noncoding + - Absence of Endometriosis Reported 29124462 664 1.09 416 576 A G nr nr Hearing loss patient Reported 32169613 3 0.00 477 576 A G noncoding MT-TF precursor nr nr Hearing loss patient Reported 32169613 3 0.00 378 578 T C nr + Unspecified patient from clinical lab / MS Reported 31965079, 27119776 0 0.00 109 582 T C - + Mitochondrial myopathy Reported 14659412, 19718780, 17878308 0 0.00 1 583 G A - + MELAS / MM & EXIT Cfrm [VUS*] 9771776, 19718780, 16806928, 31965079, 17878308 0 0.00 233 586 G A - + Extrapyramidal disorder with akinesia-rigidity, psychosis and SNHL Reported 21060018, 19718780, 31965079 0 0.00 389 590 A G - + EXIT+ataxia+RP Reported 32419253 0 0.00 466 591 C T + - Gitelman-like syndrome Reported 34607911 0 0.00 359 593 T C + - Nonsyndromic hearing loss / LHON Reported 28579530, 31965079, 33552719, 22039503, 22110754, 34053002, 34120304 294 0.48 269 602 C T - + Axial myopathy with encephalopathy Reported 21424749, 22781547 0 0.00 2 606 A G + + Myoglobinuria Unclear 9066365, 10611123, 14733964, 31965079, 17878308 22 0.04 3 608 A G + - Tubulo-interstitial nephritis Reported 11231339, 22781547, 17878308 0 0.00 113 611 G A nr + MERRF Reported 15184630, 20142618, 19718780, 17878308 0 0.00 161 616 T G + + Maternally inherited epilepsy Reported 20142618 1 0.00 237 616 T C + + Maternally inherited epilepsy / mito tubulointerstitial kidney disease (MITKD) / Gitelman-like syndrome Cfrm [LP] 20142618, 28267784, 31965079, 31722346, 35472031, 34607911 1 0.00 331 617 G A - + Carotid artery stenosis Reported 19091329 0 0.00 278 618 T G - + Ptosis CPEO MM & EXIT Reported 21882289 0 0.00 4 618 T C - + MM Reported 9636664, 31965079, 17878308 0 0.00 129 622 G A - + EXIT & Deafness Reported 16769874, 19718780, 17878308 0 0.00 274 625 G A - + SNHL & Epilepsy Reported 21914246 0 0.00 319 628 C T - + DEAF Reported 22979943, 31965079 3 0.00 169 636 A G + - DEAF Reported 18790089, 23847141, 27498855 20 0.03 364 641 A T - + Epileptic Encephalopathy Reported 31009750 0 0.00 167 642 T C - + Ataxia, PEO, deafness Reported 18977334 0 0.00 467 643 A G + - Gitelman-like syndrome Reported 34607911 0 0.00 352 653 G GG - + Atherosclerosis study Reported 29670672 0 0.00 340 653 G : - + Atherosclerosis risk Reported 28951770, 29670672 0 0.00 267 663 A G + - Coronary atherosclerosis risk Reported 21099167 1765 2.89 178 669 T C + - DEAF Reported 17637808, 18851951, 19371214, 20353758 114 0.19 197 721 T C + - Possibly LVNC-associated Reported 20211276 139 0.23 263 735 A G nr nr DEAF Reported 20055758, 23301511 77 0.13 219 745 A G + - DEAF-associated Reported 20100600 38 0.06 198 750 A A + - SZ-associated Reported 19290059, 23563965, 27217714 1013 1.66 444 773 T C - + Possible association with sepsis Reported 33504965 4 0.01 220 792 C T + - Increased risk of nonsyndromic deafness Reported 20100600 5 0.01 221 801 A G + - DEAF-associated Reported 20100600 7 0.01 64 827 A G + - DEAF Conflicting reports 18261986, 15286157, 15841390, 16528519, 16650816, 18790089, 18611982, 19144107, 19371214, 20722495, 20353758, 20100600, 21495045, 17489842, 30523288, 27230773, 16782057, 27654872 1585 2.59 222 839 A G + - DEAF-associated Reported 20100600 7 0.01 199 850 T C + - Possibly LVNC-associated Reported 20211276 122 0.20 183 856 A G + - LHON helper / AD / DEAF-associated Reported 8728098, 19703591, 20100600 18 0.03 270 869 C T + - found in 1 HCM patient Reported 16266762 75 0.12 200 921 T C + - Possibly LVNC-associated Reported 20211276, 27217714 434 0.71 445 955 A C - + Possible association with sepsis Reported 33504965 3 0.00 212 960 C CC + - Possibly DEAF-associated Reported 18851951, 12394346, 19371214, 30523288, 27654872 388 0.63 211 960 C : + - Possibly DEAF-associated Reported 18851951 56 0.09 107 961 T C + - DEAF, possibly LVNC-associated Unclear 7550368, 15841390, 16528519, 18325329, 19371214, 20100600, 17489842, 29336589, 27654872 555 0.91 213 961 T G + - Possibly DEAF-associated Unclear 15286157, 18851951, 30523288, 23013294, 23969527, 19705751, 27654872 226 0.37 104 961 T CC + + DEAF / AD-associated / intellectual disability Unclear 8104867, 14681830, 7550368, 10220138, 14581685, 10326749, 12394346, 16120283, 12037390, 15917167, 18790089, 18851951, 19144107, 19703591, 20100600, 21495045, 17489842, 19705751, 30053855, 24092330, 27654872 0 0.00 110 965 C CC + - DEAF Unclear 14681830, 14581685, 10326749, 12394346, 12037390, 15126302, 14699607, 15841390, 16380089, 20100600, 30523288, 19705751 1 0.00 209 988 G A nr nr Possible DEAF risk factor Reported 20353758 55 0.09 170 990 T C + - DEAF Reported 18790089 36 0.06 120 1005 T C + - DEAF Unclear 15841390, 16528519, 17489842, 27498855, 19705751 272 0.44 223 1027 A G + - DEAF-associated Reported 20100600 18 0.03 5 1095 T C + + SNHL Unclear 11079536, 11313749, 15555598, 15637703, 15841390, 16528519, 18325329, 19144107, 20100600, 21495045, 17489842, 16947981, 16875663, 30523288, 19705751, 27654872 65 0.11 121 1116 A G + - DEAF Reported 15841390, 17489842 10 0.02 397 1119 T C nr nr Possible role in high altitude sickness Reported 23096691 322 0.53 214 1180 T G + - Possibly DEAF-associated Reported 15286157, 24092330 0 0.00 225 1192 C T + - DEAF-associated Reported 20100600 14 0.02 224 1192 C A + - DEAF-associated Reported 20100600, 27498855 10 0.02 215 1226 C G + - Possibly DEAF-associated Reported 15286157, 24092330 0 0.00 162 1291 T C + - DEAF Unclear 16458854, 16574076, 16777068 55 0.09 226 1310 C T + - DEAF-associated Reported 20100600 39 0.06 227 1331 A G + - DEAF-associated Reported 20100600 10 0.02 344 1349 T G - + DEAF Reported 0 0.00 228 1374 A G + - DEAF-associated Reported 20100600, 24092330 1 0.00 456 1382 A C + - Longevity / T2D susceptibility Reported 26289118, 33468709 192 0.31 271 1391 T C + + found in 1 HCM patient Reported 16266762 128 0.21 345 1420 T G + + DEAF Reported 0 0.00 201 1438 A A + - SZ-associated Reported 19290059, 27217714, 16947981 2857 4.67 229 1452 T C + - DEAF-associated Reported 20100600 52 0.09 210 1453 A G nr nr Possible DEAF risk factor Reported 20353758 110 0.18 346 1492 A C - + DEAF Reported 0 0.00 103 1494 C T + - DEAF Cfrm [LP] 15722487, 17698030, 14681830, 15126302, 16826519, 16380089, 16458854, 17434445, 18308926, 18325329, 19144107, 19687236, 20100600, 16890911, 20860455, 21495045, 25838379, 25837512, 17489842, 16947981, 21047563, 17698299, 29707576, 28901477, 30523288, 20209292, 30693673, 24092330, 29253894, 27654872, 34467602, 32400865, 37988592 5 0.01 153 1517 A C - + DEAF Reported 18325329 0 0.00 179 1537 C T + - DEAF; intellectual disability Reported 17637808 9 0.01 347 1544 A T + - DEAF Reported 24092330 0 0.00 348 1546 A T + - DEAF Reported 0 0.00 349 1554 G A + - DEAF Reported 0 0.00 8 1555 A G + + DEAF; autism spectrum intellectual disability; possibly antiatherosclerotic Cfrm [P] 8285309, 7689389, 8414970, 7649544, 9040738, 9490575, 9164619, 9391883, 9831149, 9777488, 9887373, 9915970, 10414625, 10521300, 9779807, 7550368, 8800928, 10220138, 9315872, 18154640, 15179218, 12372057, 12655418, 14699607, 12370316, 12011058, 10326749, 8817331, 12955586, 12054632, 10915767, 11230176, 10577941, 14755216, 12394346, 16375862, 16168391, 16152638, 16406239, 12920080, 8797567, 9950117, 9111378, 8973709, 8687424, 10424809, 10788333, 10905659, 10760311, 10854117, 10739773, 10633132, 11215518, 11388757, 11174059, 12031626, 11857751, 12711217, 15286157, 15126302, 15542390, 15708009, 15841390, 16132471, 15292920, 16826519, 16528519, 16513084, 16631122, 16458854, 16574076, 16777068, 16955413, 17637808, 17341440, 17452034, 18674747, 18308926, 18325329, 18386806, 18215147, 17999439, 18820594, 18282333, 19026397, 18790089, 18775412, 19144107, 19371214, 19370763, 19687236, 19818876, 20353758, 20100600, 20064630, 20123042, 20860455, 21495045, 20111055, 17489842, 21621438, 21725156, 21456129, 21162657, 21838605, 21504270, 22475488, 22341444, 19376484, 23847141, 25838379, 25837512, 16947981, 26404827, 29182774, 27308839, 21047563, 17723226, 28049726, 29348176, 29707576, 29336589, 28951770, 29340697, 30272361, 29670672, 23395464, 25834827, 19082356, 28320335, 30523288, 19705751, 30693673, 24092330, 29253894, 30369864, 31540444, 25313049, 32867169, 18930888, 26361786, 32991883, 23301511, 27654872, 34467602, 22567359, 35614445, 34732400, 23774020, 36292680, 26741492, 37737178, 37587338, 32400865, 37988592, 30671084, 38465286 85 0.14 272 1556 C T + - found in 1 HCM patient Reported 16266762 13 0.02 350 1575 T G + - DEAF Reported 0 0.00 351 1577 T G - + DEAF Reported 0 0.00 9 1606 G A - + AMDF Cfrm [VUS*] 9450773, 12056939, 20064630, 29340697, 31965079 0 0.00 287 1607 T C + + Suspected mito disease Reported 23463613, 31965079 12 0.02 475 1608 G A - + Leigh Sydrome / Parkinsonism with dystonia Reported 37950446, 38039349, 38039350 1 0.00 396 1612 C T + - LVNC (left ventricular noncompaction) Reported (VUS) 33082984 0 0.00 337 1616 A G nr nr MELAS Reported 28893805 0 0.00 10 1624 C T + - Leigh Syndrome Reported 11799391, 18400783, 17886296, 25652200, 31965079, 32970680 0 0.00 244 1630 A G - + MNGIE-like disease / MELAS Cfrm [VUS*] 19252805, 21540128, 29428506, 31965079, 23463613, 30815362, 31181796, 30709774, 30809469 0 0.00 457 1640 A G + + MELAS Reported 23301511 2 0.00 11 1642 G A - + MELAS Reported 9443499, 8797538 0 0.00 284 1643 A G + + Late infantile onset fatal mito disease Reported 22638997, 31965079 1 0.00 273 1644 G A - + Leigh Syndrome / HCM / MELAS Cfrm [LP] 15320572, 18314141, 23847141, 24691472, 31965079, 34298071 0 0.00 12 1644 G T - + Adult Leigh Syndrome Reported 9270602 0 0.00 125 1659 T C - + Movement Disorder Reported 15465092, 31965079 0 0.00 393 1661 A G + - Charcot Marie Tooth (CMT) Reported [VUS] 32715519, 28027978 1 0.00 453 2156 A AA - + Possible association with sepsis Reported 7723627, 16895436, 16714301, 29343773, 22333566, 33504965 204 0.33 375 2158 T C nr nr Reduced risk PD Reported 23645593, 30369864 247 0.40 371 2336 T C + - Hypertrophic cardiomyopathy Reported 30196098, 24367055 0 0.00 202 2352 T C + - Possibly LVNC-associated Reported 20211276, 27217714, 27498855 1612 2.64 203 2361 G A + - Possibly LVNC-associated Reported 20211276 147 0.24 447 2492 G A - + Possible association with sepsis Reported 33504965 1 0.00 312 2639 C A + - Rare mutation in a single POAG patient Reported 27217714 1 0.00 448 2647 G A - + Possible association with sepsis Reported 33504965 1 0.00 387 2648 T C nr nr Rett Syndrome Reported 32105570 1 0.00 368 2706 A A + - Increased risk of T2DM in haplogroup H Reported 29208909 13482 22.05 204 2755 A G + - Possibly LVNC-associated Reported 20211276, 27217714, 32887465 273 0.45 449 2806 T A - + Possible association with sepsis Reported 33504965 0 0.00 13 2835 C T - + Rett Syndrome Reported 9436797, 10457616 72 0.12 266 3010 G A + - Cyclic Vomiting Syndrome with Migraine / high altitude adaptation Reported 19368653, 19220304, 16773565, 25332060, 27217714, 16947981, 33420243, 23096691, 32991883 9387 15.35 450 3054 G A - + Possible association with sepsis Reported 33504965 0 0.00 177 3090 G A - + Myopathy Reported 17761147 2 0.00 14 3093 C G - + MELAS Reported 11455195, 17660142 0 0.00 451 3096 T C - + Possible association with sepsis Reported 33504965 18 0.03 452 3098 T C - + Possible association with sepsis Reported 33504965 0 0.00 311 3111 A T + - Migraine Reported 6 0.01 15 3196 G A + + ADPD Reported 8104867, 19703591 15 0.02 163 3236 A G nr nr Sporadic bilateral optic neuropathy / hearing loss Reported 18676632, 29161289, 31965079, 32169613 2 0.00 122 3242 G A + + MM / HCM+renal tubular dysfunction Reported 15870203, 19460299, 22781753, 24667782, 21364701, 31965079, 25313049, 37038312 0 0.00 18 3243 A T - + MM / MELAS / SNHL / CPEO Cfrm [LP] 9168904, 12729737, 18203188, 15477393, 20471262, 31965079, 33924034, 20550934, 32273537, 30210801, 23220830, 25504047 0 0.00 16 3243 A G - + MELAS / Leigh Syndrome / DMDF / MIDD / SNHL / CPEO / MM / FSGS / ASD / Cardiac+multi-organ dysfunction Cfrm [P] 2102678, 1922812, 1684568, 1674297, 1755869, 1584755, 1586140, 1549215, 1606473, 8363469, 8356881, 8363452, 8477849, 8255441, 8122891, 7965431, 7735877, 8751860, 8777986, 8712800, 8544626, 8809026, 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, 7599217, 7600089, 7603515, 7473662, 7639309, 7599199, 7625445, 7603513, 8773598, 8723687, 8723071, 9761239, 9748738, 9266470, 9196933, 9365365, 9225833, 9353631, 9262546, 9386859, 9541428, 9219161, 9024220, 9105898, 9212310, 9633820, 9146825, 9541116, 9149827, 9625453, 9437322, 9384601, 9073028, 9628277, 9455930, 9353617, 9222976, 9780603, 9798744, 8728705, 9778452, 9822126, 9683591, 9619647, 9830283, 9884447, 9831303, 9889270, 9323566, 10407850, 10399093, 8559168, 8829651, 10220138, 9708761, 9598702, 10025431, 10100521, 10890789, 10525672, 8517674, 7714102, 10424809, 10452273, 10462141, 9845835, 10366077, 10514449, 10862082, 10939569, 11145497, 11074292, 10858457, 10699169, 10699170, 10854117, 10699115, 10665488, 10611123, 10633132, 11215518, 11044204, 10645055, 11241464, 11742413, 11335700, 11085913, 11708999, 11175302, 11488279, 11331900, 11733107, 11507652, 11260383, 11393411, 11700163, 15073091, 11472454, 11889254, 11874423, 16120315, 12207817, 12391367, 12089377, 12150714, 12080997, 16120317, 12609508, 14648149, 12590018, 12612863, 12574954, 12874464, 14571459, 12627331, 14673589, 15258237, 15032978, 14648337, 15220216, 15180810, 15111665, 15056184, 15126302, 15660201, 15477393, 15286228, 15372523, 15164188, 15466086, 15328490, 15880407, 15752543, 15870203, 15893315, 16050991, 16290150, 7565871, 15292920, 15737668, 15585516, 15701731, 16476929, 16476925, 16483543, 16815877, 16490799, 16337222, 16326995, 16717204, 16384802, 16876129, 17236134, 17886296, 17540956, 17653689, 17664998, 17541738, 17300999, 17823937, 17637808, 17210904, 17403843, 17336924, 17587249, 17223431, 18674747, 18753147, 18290960, 18332310, 18165269, 18180872, 18402672, 18441172, 18569490, 18294221, 18455161, 18319067, 18279408, 18647627, 18990125, 18976726, 18826862, 18950542, 19169492, 17664050, 17689757, 19297390, 19561330, 19253345, 19470619, 19370763, 19460299, 19204268, 19502062, 19589463, 19486129, 19376555, 19234880, 19470628, 19718780, 19273755, 20471050, 20973690, 20194621, 20064630, 19941338, 20123042, 20610441, 21067488, 20799154, 20111055, 20164463, 20552288, 20812177, 20972245, 21473984, 21724600, 21427669, 21496500, 21364701, 21120938, 22411789, 22080835, 22270878, 21263444, 23272214, 22921075, 22306605, 21944974, 21935892, 22577219, 22249460, 21443929, 22781547, 24003133, 23838278, 8392410, 12729737, 7732778, 9455929, 9537417, 9341162, 9772417, 9828917, 9741403, 9744809, 10611124, 23297368, 15238271, 10636741, 14639582, 12838523, 14722523, 16120283, 12101407, 16950816, 18252214, 17656376, 10716261, 18391161, 8676159, 17172609, 17172605, 18241671, 18306232, 23376095, 24642831, 24667782, 25192935, 24375076, 23390135, 24864317, 25192510, 23288206, 26722549, 26112752, 25451262, 25652200, 26404827, 26897329, 27923514, 27986282, 28054208, 29161289, 29079678, 28140742, 23806424, 29700325, 28916769, 28847973, 27322764, 27402860, 29556788, 29536171, 29376197, 30095618, 29318513, 22033022, 29983856, 29735722, 29560378, 30133155, 29343702, 29480536, 29139113, 17030784, 29928977, 28320335, 29390138, 30146801, 31083203, 30461153, 30801962, 29266179, 30089816, 30058726, 31641105, 29253894, 27450679, 22115768, 31867706, 31965079, 31143779, 27919073, 30369864, 31347509, 31630688, 19199242, 31682520, 29756269, 9175737, 28668821, 28951556, 29980632, 25313049, 17323145, 19864902, 30406307, 30962477, 32786181, 32881886, 32167396, 32970680, 32313153, 26469001, 32948797, 11379873, 32169613, 16446307, 22538251, 33257573, 32722320, 32220313, 32085658, 32696575, 31722256, 31726383, 18176143, 31253706, 14748908, 34146515, 32439810, 33811417, 32504279, 34118021, 32554818, 34467602, 28754700, 34829316, 33717984, 33763872, 34298071, 34482029, 34737295, 24931247, 22567359, 34599203, 36053827, 36010669, 11271374, 33484420, 36611807, 23230016, 33438095, 33541179, 29868447, 35778412, 36744444, 36130631, 28716227, 31665838, 36928678, 23257519, 29666206, 37038312, 37439868, 37737178, 12944725, 37587338, 21850008, 37988592, 38397113, 38465286 9 0.01 123 3244 G A - + MELAS Reported 15870203, 19460299, 24667782, 29161289 4 0.01 20 3249 G A - + KSS Reported 11448301, 15477393, 29161289 0 0.00 21 3250 T C - + MM / CPEO / cardiomyopathy Reported 1514779, 9003864, 14639582, 12729737, 12160969, 15477393, 15466077, 15870203, 21364701, 29161289, 31965079, 33259687, 28716227 0 0.00 22 3251 A G - + MM / MELAS with chorea-ballism Reported 8265770, 8786060, 29161289, 30837005, 31965079, 38465286 0 0.00 23 3252 A G - + MELAS Reported 8111377, 7603510, 15477393, 25192510, 31965079 0 0.00 288 3252 A T - + EXIT Reported 23463613, 31965079 0 0.00 336 3253 T C + - Maternally inherited hypertension Reported 28679533, 29161289, 27544295, 34599203 7 0.01 124 3254 C T + - CPEO / poss. hypertension factor Reported 15477393, 15870203, 20064630, 19778529, 29161289 18 0.03 172 3254 C A - + Gestational Diabetes (GDM) Reported 10704697 33 0.05 24 3254 C G - + MM Reported 9270605, 15477393, 29161289, 34599203 0 0.00 116 3255 G A - + MERRF / KSS overlap Reported 12868503, 15477393, 20064630, 31965079 0 0.00 25 3256 C T - + MELAS; possible atherosclerosis risk Cfrm [LP] 8254046, 7804130, 7599217, 9744809, 12972383, 15477393, 16483543, 18165269, 20064630, 19941338, 16384802, 10953207, 19718780, 23376095, 28951770, 29670672, 23395464, 23874496, 31965079, 32167396, 23056349 0 0.00 26 3258 T C - + MELAS / Myopathy Cfrm [LP] 11335700, 12798797, 15477393, 15870203, 23847141 1 0.00 27 3260 A G - + MMC / MELAS Cfrm [LP] 8132749, 8210299, 1677065, 7599217, 9744809, 15477393, 18165269, 18647627, 20064630, 8941275, 31965079, 32167396, 33763872, 24656211, 20965148, 19036942, 19631764, 16141288 0 0.00 28 3264 T C - + DM Reported 9203451, 15477393, 29161289 0 0.00 29 3271 T C - + MELAS / DM / MERRF-like Cfrm [P] 1932147, 8280119, 8482977, 7684581, 7599217, 7603510, 7603512, 9455930, 9766710, 15794182, 16120315, 12609508, 15477393, 15870203, 20064630, 20972245, 21944974, 9744809, 12527767, 12729737, 18165269, 19370763, 25192510, 21364701, 29161289, 31965079, 32167396, 33763872, 11404119, 24153443, 16006433, 25680467, 36769001, 31665838, 23257519, 29666206, 38465286 0 0.00 30 3273 T : - + PEM / retinal dystrophy in MELAS Cfrm [VUS*] 7854527, 30701423 0 0.00 32 3273 T C - + Ocular myopathy Reported 11404120, 29161289 0 0.00 265 3274 A G - + Neuropsychiatric syndrome + cataract Reported 16384802, 11723298, 31965079, 24931247 0 0.00 469 3274 AC : - + Encephalomyopathy with proteinuric kidney disease Reported 36404555 0 0.00 33 3275 C A + - LHON Reported 10612844, 15477393, 29161289, 31965079 3 0.00 358 3275 C T + - Metabolic syndrome and polycystic ovary syndrome / LHON Reported 29155328, 30194987, 31965079, 28027978, 33552719, 34053002, 34120304 3 0.00 246 3277 G A + - Poss. hypertension factor Reported 19778529, 31965079 38 0.06 247 3278 T C + - Poss. hypertension factor Reported 19778529, 31965079, 24448545 16 0.03 34 3280 A G - + Myopathy Cfrm [VUS*] 11335700, 12798797, 15477393, 15870203, 20064630, 12402350 0 0.00 342 3283 G A - + Late onset ocular myopathy Reported 17363246 0 0.00 156 3287 C A - + Encephalomyopathy Reported 15670724, 19718780 0 0.00 35 3288 A G - + Myopathy Reported 10402027, 15477393, 23631826, 31965079 0 0.00 248 3290 T C + - Poss. hypertension factor Reported 19778529, 29161289, 31965079, 32167396 131 0.21 36 3291 T C - + MELAS / Myopathy / Deafness+Cognitive Impairment Cfrm [LP] 7520241, 7603510, 10899447, 15477393, 15870203, 18165269, 18977334, 20064630, 22471645, 20943236, 21863273, 24338029, 29161289, 23273904, 31965079, 32167396, 22538251, 36769001 0 0.00 37 3302 A G - + MM Cfrm [LP] 8366098, 7635294, 7735877, 17130166, 15477393, 16050991, 19370763, 20064630, 29161289, 31965079, 15351426, 28716227, 34991096, 26741492 0 0.00 38 3303 C T + + MMC Cfrm [LP] 7906985, 9841711, 10431114, 12729737, 12609508, 15477393, 16337222, 20064630, 20226758, 23847141, 21364701, 29161289, 31965079, 32167396, 11271374, 23258140, 11768589, 15351426, 30404982, 33013660, 32348839 0 0.00 1 3308 T C M1T - + MELAS / DEAF enhancer / hypertension / LVNC / putative LHON Reported - possibly synergistic; hg L1b and A2i marker 9299504, 10521313, 10519336, 10070626, 10924280, 12160969, 14960712, 15972314, 18194667, 21457906, 22777272, 21625124, 21968326, 22777278, 29987491, 10371545 426 0.70 225 3308 T G M1Term + + Sudden Infant Death Reported 12160969 6 0.01 167 3310 C T P2S + + Diabetes / HCM Reported 12610069, 15977098, 16828917, 29987491, 33420243, 32652755, 28754700 13 0.02 2 3316 G A A4T + - Diabetes / LHON / PEO / vascular dementia Reported; hg D1 D2 M33 R30 marker 7733935, 8858117, 9384601, 10395242, 10520236, 10636741, 11238687, 12436196, 11961525, 15338331, 15972314, 16409568, 16477364, 10704697, 16331560, 16414144, 22949535, 29987491, 19199242, 29387390, 29464373 574 0.94 324 3335 T C I10T + - LHON Reported 27177320 61 0.10 357 3336 T C I10I - + Carotid atherosclerosis risk Reported 28951770, 29670672, 23874496 226 0.37 248 3337 G A V11M + - Cardiomyopathy Reported - possibly synergistic 18502698, 29987491 100 0.16 185 3340 C T P12S + - Encephaloneuromyopathy Reported 15465027, 29987491, 32652755 3 0.00 550 3365 T C L20P - + EXIT Reported 25626417 0 0.00 130 3376 G A E24K + + LHON MELAS overlap Cfrm [VUS*] 15657614, 22079202, 20301353 0 0.00 220 3380 G A R25Q - + MELAS Reported [VUS] 18590963, 36431069 2 0.00 312 3388 C A L28M nr nr Materally Inherited Nonsyndromic Deafness Reported 22241583 30 0.05 325 3391 G A G29S + - LHON Reported 27177320 54 0.09 3 3394 T C Y30H + - LHON / Diabetes / CPTdeficiency / high altitude adaptation Reported [VUS] -population dependent; hg M9 marker 7603534, 8680405, 1634041, 1417830, 1442494, 7599217, 7635294, 8728705, 10520236, 19324017, 15338331, 16168441, 15972314, 20728388, 10704697, 18428021, 21457906, 21694444, 22517755, 23563965, 22233893, 24002810, 18679013, 16331560, 16414144, 16773565, 27177320, 27498855, 29444077, 29987491, 30597069, 19199242, 29387390, 29997041, 33420243, 27465874, 32887465, 11853713, 33763872, 23350576, 33840063, 29996615, 8645285, 17406640, 17320116, 23091534, 19043581, 35801081 803 1.31 245 3395 A G Y30C + + LHON / HCM with hearing loss Reported 21144833, 23847141, 28139165, 16060290, 20643099, 23301511, 32011699, 32652755, 36431069, 36827238 29 0.05 252 3396 T C Y30Y + - NSHL / MIDD Reported / Unclear 17336924, 8728705 459 0.75 4 3397 A G M31V + - ADPD / possibly LVNC-cardiomyopathy associated / resistance to high altitude pulmonary edema Reported 7599217, 8741876, 8104867, 16523671, 15972314, 20211276, 21457906, 21263444, 27498855, 29987491, 19043581 168 0.27 195 3398 T C M31T + - DMDF+HCM / GDM / possibly LVNC cardiomyopathy-associated Reported 7599217, 8723687, 10894993, 20211276, 10704697 269 0.44 196 3399 A T M31I + - Gestational Diabetes (GDM) Reported 10704697 26 0.04 259 3407 G A R34H + - HCM / Muscle involvement Conflicting reports 16266762, 17482693, 22258525, 36431069 1 0.00 186 3418 A G N38D + - AMegL Reported 18368068, 36431069 1 0.00 172 3421 G A V39I + - MIDD Reported 16949108, 29987491 80 0.13 559 3437 G A G44E - + Mitochondrial myopathy, EXIT Reported 28716227 0 0.00 5 3460 G A A52T + + LHON Cfrm [P] 1674640, 1959619, 1928099, 1734726, 1550131, 1444915, 8270249, 8024249, 8071952, 8195807, 7853025, 7770132, 7924787, 7821467, 7977345, 8556281, 8680405, 7611298, 7635294, 7603534, 7710535, 7629530, 7735876, 7760326, 7599218, 8571959, 8659512, 8755941, 8931573, 8600429, 9012411, 9302261, 9412783, 9150158, 9852675, 1732158, 7901141, 8213820, 8401538, 8496715, 10426140, 10520236, 10426138, 10545708, 10939569, 11074292, 11001192, 11124301, 11339587, 14750573, 11523562, 11331900, 11329546, 12205655, 12409182, 8941270, 12023431, 12446713, 14671420, 15126312, 15060117, 16120372, 15466086, 15282189, 16083845, 16380918, 15638829, 15883259, 16050984, 15728653, 16523671, 16532388, 15972314, 17003408, 16829155, 16972023, 17886296, 17652639, 17479363, 17406640, 17434142, 17942074, 17292333, 18216301, 18674747, 18214789, 18402672, 18320530, 18070226, 18647627, 18806273, 19710181, 19525327, 19370763, 19319978, 19268652, 19098324, 19255150, 19800080, 20471050, 20064630, 20123042, 20599858, 20211598, 20454697, 21067478, 20809775, 20232220, 20053576, 15720387, 21457906, 21788663, 21810891, 21694444, 21397051, 21253496, 20943885, 15282179, 22410442, 15629832, 15629831, 21887510, 23297368, 22079202, 23847141, 25192510, 25053773, 12711217, 16564802, 27847334, 28040497, 26605371, 27746671, 27177320, 15342361, 28481993, 26404827, 28233183, 27787713, 27071925, 29444077, 12807863, 29983856, 25909222, 29587845, 29991444, 30081212, 30591017, 29426449, 28392196, 30572950, 31040363, 28991104, 28994349, 30053855, 11906302, 30304398, 29253894, 30369864, 29387390, 11579587, 16738010, 31817256, 29189152, 29980632, 31584786, 32219779, 31932089, 32704028, 10976107, 33552719, 25338955, 33706792, 28314831, 17122117, 12518276, 32991883, 33159657, 32991388, 32220313, 33584522, 32887465, 15033723, 14748908, 33911213, 34168607, 20301353, 11853713, 32504279, 34122299, 20628600, 24369379, 32105823, 28716668, 16083844, 18235013, 21859767, 33477675, 10608675, 11937919, 34673906, 34915201, 20491810, 34670133, 8742999, 35383288, 18562849, 12638016, 9561832, 24508359, 33095398, 35623556, 35858578, 34573281, 36361994, 36565700, 35778412, 36827238, 37038312, 37733737, 37737178, 37587338, 11741983, 37878684, 37988592, 38346855 31 0.05 537 3461 C T A52V nr nr LHON Reported 32355048 0 0.00 287 3472 T C F56L + + LHON Reported 24800637, 27177320, 27449621, 28870561, 28992945, 28992946, 28862604 5 0.01 162 3481 G A E59K - + MELAS / Progressive Encephalomyopathy Cfrm [LP] 17535832, 18504678, 18977334, 31665838, 37038312 0 0.00 326 3488 T C L61P + - LHON Reported 27177320 1 0.00 6 3496 G T A64S + - LHON Reported / Secondary 10520236, 15972314, 29987491 11 0.02 7 3497 C T A64V + - LHON Reported / Secondary 10520236, 15972314, 16477364, 29987491, 29387390, 11853713 210 0.34 527 3502 T C S66P nr nr Unspecified suspected mitochondrial disorder Reported 32652755 0 0.00 507 3548 T C I81T nr nr Possible LHON helper (one 14484 patient) Reported 11853713 36 0.06 327 3551 C T A82V + - LHON Reported 27177320 0 0.00 457 3552 T A A82A + - Resistance to high altitude pulmonary edema (HAPE) / matrilineal hypertension Reported; hg C marker 29200319 2148 3.51 402 3571 C T L89F nr nr Possible LHON helper mut. Reported 29387390, 22553750, 11853713 136 0.22 528 3571 C : frameshift nr nr Unspecified suspected mitochondrial disorder Reported 32652755 0 0.00 328 3632 C T S109F + - LHON Reported 27177320, 34177762 0 0.00 323 3634 A G S110G + - LHON Reported 27613247, 29467576 0 0.00 8 3635 G A S110N + - LHON Cfrm [LP] 11479733, 15972314, 19527690, 19497304, 21074518, 23304069, 27177320, 25194554, 29253894, 29387390, 31817256, 20301353, 32652755, 33417421, 35905669, 34156427, 38346855 9 0.01 212 3644 T C V113A nr nr BD-associated Reported 15533721, 19290059, 23563965, 29987491 229 0.37 381 3667 T G W121G + - Peripheral neuropathy of T2 diabetes Reported 24456990 1 0.00 544 3685 T C Y127H - + Leigh Syndrome Reported 35217561 0 0.00 189 3688 G A A128T + - Leigh Syndrome Cfrm [LP] 18977334, 24642831, 37038312 0 0.00 120 3697 G A G131S + + MELAS / Leigh Syndrome / LDYT / BSN Cfrm [LP] 15466014, 15972314, 16969869, 17562939, 18402672, 18977334, 21457906, 24830958, 21364701, 30095618, 30623604, 30461153, 31996177, 20301353, 23010433, 28429146, 27338358, 34802141, 37038312, 26741492 0 0.00 141 3700 G A A132T + - LHON Cfrm [VUS*] 12150954, 22879922, 29987491, 30128709, 29253894, 20301353 3 0.00 329 3713 T C V136A + - LHON Reported 27177320 0 0.00 131 3733 G A E143K + + LHON Cfrm [VUS*] 15505787, 19098324, 21457906, 22879922, 27177320, 29253894, 29387390, 17122117, 20301353 2 0.00 268 3733 G C E143Q - + LHON Reported 22879922 0 0.00 253 3736 G A V144I nr nr LHON Reported 20643099, 29987491 108 0.18 284 3745 G A A147T + + LHON / high altitude variant Reported / Population-dependent 24002810, 29444077, 29987491, 27119776 120 0.20 417 3761 C A S152Term - + Deafness w relapsing/remitting neurological symptoms Reported [VUS] 32158465 0 0.00 330 3769 C G L155V + - LHON Reported 27177320 0 0.00 331 3781 T C S159P + - LHON Reported 27177320 0 0.00 80 3796 A G T164A - + Adult-Onset Dystonia Reported 12756609, 15972314, 21457906, 29987491, 18427623 289 0.47 177 3833 T A L176Q + - PEG Reported 18246027, 29987491 0 0.00 546 3861 A C W185C - + SNHL + neurodevelopmental delay Reported 27155156 0 0.00 249 3866 T C I187T nr nr LHON + limb claudication Reported / possibly synergistic 20176558, 27177320, 15896721, 29987491, 29387390, 20197120, 32723871 171 0.28 181 3890 G A R195Q - + Progressive Encephalomyopathy / Leigh Syndrome / Optic Atrophy Cfrm [LP] 18504678, 23246842, 23847141, 27798429, 30095618, 29987491, 29253894, 34390870 1 0.00 339 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 0.00 332 3919 T C S205P + - LHON Reported 27177320 0 0.00 400 3945 C A I213M nr nr Leigh-like phenotype Reported 28862604 0 0.00 121 3946 G A E214K + + MELAS Cfrm [LP] 15466014, 15972314, 18402672, 21457906, 16849371, 21364701, 29253894, 31996177, 28429146, 31665838, 26741492, 38465286 1 0.00 122 3949 T C Y215H - + MELAS Reported [VUS] 15466014, 15972314, 18402672, 21457906, 16849371, 21364701, 29253894 1 0.00 333 3958 G A G218S + - LHON Reported 27177320, 33706792 0 0.00 280 3959 G A G218D nr nr MELAS Reported 23834081 0 0.00 281 3995 A G N230S nr nr MELAS Reported 23834081, 29987491, 29756269 19 0.03 334 4081 T C F259L + - LHON Reported 27177320 1 0.00 508 4115 T C F270S nr nr Possible LHON helper (one 11778 patient) Reported 11853713 0 0.00 335 4123 A T I273F + - LHON Reported 27177320 0 0.00 242 4132 G A A276T + - NAION-associated Reported [VUS] 17454741, 29987491 9 0.01 565 4135 T C Y277H - + LHON Reported 27 0.04 9 4136 A G Y277C + - LHON Reported - possibly synergistic 7977345, 7599217, 7635294, 7760326, 8751850, 9150158, 2018041, 15972314, 18216301, 21457906, 29253894, 19616643, 35699829 71 0.12 271 4142 G A R279Q - + Developmental delay, seizure, hypotonia Reported 23463613, 29987491, 32652755 0 0.00 410 4142 G T R279L - + Leigh Syndrome Reported 0 0.00 10 4160 T C L285P + - LHON / LHON plus Reported - possibly synergistic 7770132, 7821467, 7635294, 7760326, 2018041, 15972314, 18647627, 21457906, 22258525, 29253894, 29249004, 34168607, 28455970, 27127184, 20301353, 34670133, 8742999, 19616643, 35699829, 37737178 1 0.00 336 4163 T C M286T + - LHON Reported 27177320 1 0.00 11 4171 C A L289M + + LHON / Leigh-like phenotype Cfrm [VUS*] 12112111, 15972314, 19555656, 21457906, 22879922, 24884847, 29987491, 29253894, 32045392, 20301353, 32652755, 20491810, 35104579, 34670133, 19616643 2 0.00 547 4175 G A W290Term - + EXIT Reported 25626417 0 0.00 12 4216 T C Y304H + - LHON / Insulin Resistance /possible adaptive high altitude variant / miscarriage Conflicting reports 8071952, 7770132, 7977345, 7814218, 8680405, 7599217, 7635294, 7599218, 7763260, 8593537, 8741876, 8755941, 8899049, 9150158, 9832034, 9719386, 10737123, 1634041, 1900003, 1463007, 10545708, 10424809, 10894993, 11339587, 11935318, 12150954, 15338331, 15786469, 16050984, 16132471, 15972314, 16759180, 21067478, 21457906, 24002810, 16773565, 27498855, 29444077, 29987491, 30831606, 30369864, 29387390, 20197120, 23464625, 28696810, 32887465, 11853713, 34573281, 29996615, 36701026 6406 10.48 245 4263 A G + - Maternally inherited essential hypertension Reported 19778529, 19895710, 21454794, 21134354 3 0.00 106 4267 A G - + MM / CPEO Reported 12207935, 17965958, 15477393, 19718780 0 0.00 39 4269 A G - + FICP Reported 7518448, 9466989, 1632786, 15005711, 11000270, 12655007, 15477393, 20064630, 22781547 1 0.00 40 4274 T C - + CPEO / Motor Neuron Disease Reported 9339712, 16358336, 12655007, 15477393, 17886296, 11017193 0 0.00 249 4277 T C + - HCM / Poss. hypertension factor Reported 19778529, 21945886, 31965079 20 0.03 328 4279 A G - + Myoclonic epilepsy Reported 23601850 0 0.00 268 4281 A G - + Recurrent Myoglobinuria Reported 21324494 1 0.00 325 4282 G A - + CPEO Plus Reported 25034047 0 0.00 41 4284 G A - + Varied familial presentation / spastic paraparesis Reported [VUS] 11782991, 12655007, 15477393, 18977334, 22781547, 29253894, 31965079 2 0.00 42 4285 T C - + CPEO Reported 8607814, 10611124, 12655007, 15477393, 22781547, 11017193 0 0.00 293 4289 T C - + Retinopathy+diabetes+dysphagia+cerebral atrophy Reported 23696415 0 0.00 115 4290 T C + + Progressive Encephalopathy / PEO,myopathy Reported 15121771, 15477393, 18977334, 21533077, 31965079 0 0.00 119 4291 T C + - Hypomagnesemic Metabolic Syndrome / Gitelman-like syndrome Reported 15498972, 34607911 0 0.00 43 4295 A G + + MHCM / Maternally inherited hypertension / Maternally inherited deafness Reported [VUS] 8889580, 11406419, 12655007, 15477393, 20064630, 18177739, 19778529, 21263444, 22241583, 16947981, 29253894, 31965079, 33398350, 34991096, 19043581, 37789629 113 0.18 303 4296 G A - + Leigh Syndrome Reported 21982779, 23395828, 23288206, 31965079 0 0.00 44 4298 G A - + CPEO / MS Cfrm [VUS*] 9473477, 10611123, 12655007, 16120360, 17886296, 20064630, 15477393, 19718780, 20164463, 31965079, 11017193 0 0.00 45 4300 A G + + MICM Cfrm [LP] 7646516, 12711217, 12655007, 12767666, 15477393, 20064630, 10334428, 23847141, 10065021, 34146515 0 0.00 459 4301 A T nr nr Patient with MELAS Reported 32504279 1 0.00 231 4302 A G - + CPEO Reported 20149659 0 0.00 240 4308 G A - + CPEO Cfrm [VUS*] 21292040, 20884012, 31965079 0 0.00 46 4309 G A - + CPEO Reported 9808249, 12655007, 15477393, 37038312 0 0.00 250 4314 T C + - Poss. hypertension factor Reported 19778529, 31965079 48 0.08 241 4316 A G + + HCM with hearing loss / poss. hypertension factor Reported 21144833, 23847141, 31965079, 23301511 30 0.05 369 4317 A : nr nr Ptosis, deafness, stroke-like episodes Reported 23847141, 31965079, 24448545 16 0.03 47 4317 A G + - FICP / poss. Hypertension / DEAF factor Reported 1433821, 1978914, 7603519, 9466989, 12655007, 15477393, 19778529, 23847141, 29348176, 30272361, 29253894, 31965079, 32169613, 23774020 48 0.08 48 4320 C T - + Mitochondrial Encephalocardiomyopathy Reported 7488201, 12655007, 15477393, 20064630, 31965079 10 0.02 318 4322 C CC - + Idiopathic Dilated Cardiomopathy Reported 18043288 3 0.00 363 4322 C : + - mtDNA deletion and depletion with dilated cardiomyopathy Reported 29481798 0 0.00 391 4327 T C - + Ataxia+, with RRF and COX deficiency Reported 31965079, 32419253 0 0.00 49 4332 G A - + Encephalopathy / MELAS Cfrm [VUS*] 11335700, 11171912, 20064630, 19718780 0 0.00 50 4336 T C + + ADPD / Hearing Loss & Migraine / autism spectrum / intellectual disability Reported [B] 8004796, 8104867, 7624338, 8741876, 10680807, 8848229, 9004131, 15975594, 10953187, 8723226, 10424809, 11335700, 11424923, 15247418, 15786469, 16154228, 15292920, 19076426, 19703591, 17174475, 16773565, 16947981, 29340697, 30369864, 31965079, 32337946, 37845428 535 0.88 251 4343 A G + - Poss. hypertension factor Reported 19778529, 31965079 55 0.09 252 4345 C T + - Poss. hypertension factor Reported 19778529 5 0.01 253 4353 T C + - Poss. hypertension factor Reported 19778529, 31965079 37 0.06 217 4363 T C + - Metabolic syndrome and polycystic ovary syndrome / possibly associated w DEAF + RP + dev delay / hypertension / LHON Reported 12406974, 19778529, 27498855, 29155328, 30194987, 31965079, 34053002, 34120304 55 0.09 51 4369 A AA - + Myopathy Reported 10996779, 19718780 0 0.00 289 4372 C T - + Suspected mito disease Reported 23463613, 31965079 0 0.00 205 4373 T C + - Tic disorder / possibly LVNC-associated Reported 20211276, 31965079, 33289513 11 0.02 458 4375 C T nr nr Matrilineal hypertension risk factor Reported 29200319 9 0.01 135 4381 A G + - LHON Reported 17003408, 31965079 4 0.01 314 4386 T C + - Heart disease / myopathy / hypertension Conflicting reports 26782414, 16337222, 24470521, 31965079 188 0.31 254 4387 C A + - Poss. hypertension factor Reported 19778529 2 0.00 255 4388 A G + - Poss. hypertension factor; intellectual disability Reported 19778529, 29340697, 31965079 67 0.11 256 4392 C T + - Poss. hypertension factor Reported 19778529 18 0.03 257 4395 A G + - Poss. hypertension factor Reported 19778529, 31965079 27 0.04 175 4401 A G + - Hypertension+Ventricular Hypertrophy Reported 19546379, 18701880, 31504769 9 0.01 324 4403 G A - + Mitochondrial myopathy Reported 24711008 0 0.00 52 4409 T C - + Mitochondrial myopathy Reported 9633749, 14648149, 19941338, 23376095, 23838278, 18835817 0 0.00 258 4410 C A + - Poss. hypertension factor Reported 19778529 0 0.00 367 4412 G A - + Seizures with myopathy & retinopathy Reported 31022467 0 0.00 386 4414 T C - + Progressive external ophthalmoplegia and myopathy Reported 31488384 0 0.00 186 4415 A G - + EXIT & APS2 Reported 19460300 0 0.00 128 4435 A G + - LHON / LHON modulator / hypertension; autism spectrum; intellectual disability / hearing loss Reported 16431939, 17123466, 19022198, 19398658, 19778529, 21694735, 29222331, 29340697, 27214402, 31965079, 32169613, 29211511, 33552719, 34053002, 16060290, 34755158, 34120304, 34991096 60 0.10 290 4437 C T + - Hypotonia, seizure, muscle weakness, lactic acidosis, hearing loss Reported 23463613, 27214402, 31965079 0 0.00 366 4440 G A - + Mitochondrial myopathy Reported 29174468, 29472063, 29482911, 32970680, 29467576 0 0.00 53 4450 G A - + Myopathy / MELAS / Leigh Syndrome / EXIT Cfrm [LP] 9384601, 11335700, 30739820, 30952460, 25468263 0 0.00 399 4452 T C nr nr Reported in tic disorder patient Reported 33289513 123 0.20 218 4454 T C + - Possible contributor to mito dysfunction / hypertension Reported 12406974, 19778529, 31965079 224 0.37 259 4456 C T - + Poss. hypertension factor Reported 19778529, 31965079 5 0.01 343 4467 C A - + Maternally inherited hypertension Reported 28596595 0 0.00 454 4491 G A V8I + - High altitude pulmonary edema susceptibility Reported 31358833 959 1.57 482 4516 G A G16D + - Possible LHON modulator Reported 31743754 0 0.00 572 4580 G A M37M nr nr Protective factor for stroke risk (hg V) Reported 37793469 1059 1.73 529 4611 A : M-Term nr nr Unspecified suspected mitochondrial disorder Reported 32652755 0 0.00 240 4633 C G A55G + - LHON candidate Reported 2567271 0 0.00 13 4640 C A I57M + - LHON / Epilepsy Reported 11479733, 16523671, 15972314, 18676632, 21457906, 29987491, 21145289, 20301353 240 0.39 176 4648 T C F60S + - PEG Reported 18246027, 29987491 1 0.00 194 4659 G A A64T + - possible PD risk factor / LHON Reported 19076426, 1463007, 31817256 102 0.17 158 4681 T C L71P - + Leigh Syndrome Reported [VUS] 16996290, 21457906, 29253894, 16738010 1 0.00 201 4769 A A M100M + - SZ-associated Reported 19290059, 16773565 1285 2.10 569 4810 G A W114Term - + EXIT with myalgia & ophthalmoplegia Cfrm [LP] 15781840 0 0.00 566 4831 G A G121D - + Isolated myopathy Reported 37038312, 28070494 1 0.00 169 4833 A G T122A + - Diabetes helper mutation AD, PD Reported 11095989, 18468491, 29987491, 11853713 638 1.04 243 4852 T A L128Q + - LHON Reported 20454697 0 0.00 315 4883 C T P138P + - Glaucoma Conflicting reports 27217714, 24448266 2771 4.53 14 4917 A G N150D + - LHON / Insulin Resistance / AMD / NRTI-PN Reported 1550131, 8071952, 7770132, 7977345, 8680405, 7599217, 7635294, 7599218, 8593537, 8899049, 9150158, 10737123, 1900003, 10545708, 11339587, 16050984, 16132471, 15972314, 16759180, 17684475, 18461138, 21457906, 10936107, 23563965, 18445251, 19383124, 16773565, 29987491 3102 5.07 509 4924 G T S152I nr nr Possible LHON helper (one 11778 patient) Reported 11853713 0 0.00 432 4935 A G T156A - + Lipomatosis+EXIT Reported 23463613, 32419253, 29876471 0 0.00 455 4944 A G I159V + - High altitude pulmonary edema susceptibility Reported 31358833 10 0.02 510 4959 G A A164T nr nr Possible LHON helper (one 11778 patient) Reported 11853713 68 0.11 272 5001 A AA frameshift - + Developmental delay, seizure, cardiomyopathy, lactic acidosis Reported [VUS] 23463613, 23288206, 32652755 0 0.00 368 5095 T C I209T nr nr Proximal muscle weakness and atrophy Reported 28187756 18 0.03 279 5133 AA : frameshift nr nr Exercise intolerance (EXIT) Reported [VUS] 12192017, 23376095, 19273755, 23838278, 16815877 0 0.00 425 5153 A G L228L nr nr Recurrent pregnancy loss Reported 28696810 351 0.57 138 5178 C A L237M + + Longevity / Extraversion / diabetes / AMS protection / blood iron metabolism / correlation with myocardial infarction / atherosclerosis Reported 9449878, 10996007, 11735027, 12391595, 12375058, 12384792, 12782420, 15126279, 15211636, 15262184, 16271520, 19667492, 20555337, 20306229, 21319252, 21385625, 18468491, 11573146, 28951770, 29670672, 25834827, 29987491, 31488191 2752 4.50 15 5244 G A G259S - + LHON Reported [VUS] 7770132, 8680405, 7760326, 7599218, 1634041, 15972314, 21457906, 20301353 0 0.00 530 5367 ACCTCAATCACACTACTCC : frameshift nr nr Unspecified suspected mitochondrial disorder Reported 32652755 0 0.00 160 5452 C T T328M + - Progressive Encephalomyopathy Reported 15286228, 29987491 20 0.03 17 5460 G T A331S + + AD Reported 8093052, 1370613, 1352971, 15972314, 19703591 0 0.00 16 5460 G A A331T + + AD / PD / LHON Conflicting reports 8093052, 8937782, 8723226, 1370613, 1352971, 15972314, 19703591, 16773565, 29987491, 1463007 4082 6.68 357 5512 A G + - Maternally inherited hypertension Reported 27687549 5 0.01 339 5513 G A - + Mitochondrial encephalomyopathy with RP Reported 29625105 1 0.00 283 5514 A G + - Neonatal onset mito disease Reported 22638997, 31965079, 26741492 47 0.08 54 5521 G A - + Mitochondrial myopathy Cfrm [LP] 9673981, 10611124, 23847141, 23841600, 29253894, 31965079, 31181796, 37038312 0 0.00 329 5522 G A - + Mitochondrial myopathy Reported 23232693, 30937556 0 0.00 192 5523 T G - + Leigh Syndrome Reported 19349200, 23301511 0 0.00 105 5532 G A - + Gastrointestinal Syndrome Reported 15054399, 19718780, 29253894 1 0.00 55 5537 A AT - + Leigh Syndrome Cfrm [LP] 9266739, 10862082, 12776230, 14681757, 20064630, 31965079 0 0.00 330 5538 G A - + Encephalomyopathy Reported [VUS] 20708751, 31965079, 32504279 0 0.00 56 5540 G A - + Encephalomyopathy / DEAF Reported 10762520, 15126302, 23847141, 31965079 0 0.00 294 5541 C T - + MELAS+stroke-like episodes and cortical blindness+MRI shows occipital lobe infarct Reported 23696415, 33208382, 26297375, 29467576, 37737178 0 0.00 154 5543 T C - + Mitochondrial myopathy Reported 11506394, 15670724, 21712854, 19718780, 19273755, 31965079, 26469001, 32948797 0 0.00 160 5545 C T - + HCM severe multisystem disorder Reported 18337306 0 0.00 57 5549 G A - + DEMCHO / mitochondrial encephalomyopathy Reported 7695240, 34276539 0 0.00 281 5556 G C - + Mito encephalomyopathy Reported 19744136 0 0.00 279 5556 G A - + Combined OXPHOS defects Reported 19809478, 27450679 0 0.00 400 5558 A G nr nr Reported in tic disorder patient / NSSNHL Reported [VUS] 33289513, 22567359 119 0.19 193 5559 A G - + Leigh Syndrome Reported 19349200, 31965079, 23301511 0 0.00 168 5567 T C - + Myopathy Reported 18977334, 21364701, 31965079 56 0.09 173 5568 A G + - DEAF Reported 15292920, 31965079 16 0.03 208 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 37 0.06 130 5591 G A - + Myopathy Reported [VUS+] 16476954, 19718780, 29139113, 31965079 0 0.00 315 5592 A G + - Coronary Heart Disease Reported 24470521, 16947981 32 0.05 401 5595 G A nr nr Reported in tic disorder patient Reported 33289513 0 0.00 440 5601 C T + - Possible helper mutation in maternally inherited hypertension and in LHON Reported 24470521, 33289513, 25968158, 32169613, 29211511, 33552719, 31939618 598 0.98 373 5610 G A - + Myopathy Reported [VUS] 25873012 0 0.00 322 5613 T C - + CPEO Reported 27014581 0 0.00 417 5618 T C nr nr Hearing loss patient Reported 31965079, 17085680, 32169613 18 0.03 58 5628 T C - + CPEO / DEAF enhancer / gout / tic disorder Reported 11404121, 17434445, 16947981, 29976239, 31965079, 32970680, 33289513 130 0.21 374 5631 G A - + Myopathy Reported [VUS] 29253894, 25873012 1 0.00 238 5636 T C - + PEO Reported 20813205 0 0.00 418 5641 T C nr nr Hearing loss patient Reported 32169613 9 0.01 151 5650 G A - + Myopathy Cfrm [LP] 11715067, 17825557, 19718780, 25652200, 27626666, 30250142, 29253894, 32970680, 34050192, 31181796 1 0.00 353 5652 C G + - Dilated Cardiomyopathy Reported 9344764 0 0.00 148 5655 T C + - DEAF enhancer / Hypertension risk Reported 14960712, 27544295, 27161322, 31965079, 25968158, 32169613, 10371545, 22538251, 34991096 380 0.62 326 5658 T C - + Mitochondrial myopathy Reported 23375258 0 0.00 370 5667 G A nr nr Ptosis Reported 23847141 0 0.00 454 5669 G A - + Sporadic CPEO Reported 32869280 0 0.00 392 5672 T C - + EXIT+myalgia+CPEO with RRF Reported 31965079, 32419253 0 0.00 295 5690 A G - + CPEO+ptosis+proximal myopathy Cfrm [LP] 23696415, 23847141, 31181796 0 0.00 59 5692 T C - + CPEO / MM Reported 8129854, 7980504, 9384601, 11335700 1 0.00 176 5693 T C + - Encephalomyopathy Reported 15752774, 31965079 0 0.00 60 5698 G A - + CPEO / MM Reported 11335700, 15564038, 18977334, 20064630 1 0.00 455 5702 A : - + Sporadic CPEO Reported 32869280 0 0.00 61 5703 G A - + CPEO / MM Cfrm [P] 8254046, 9372914, 14518831, 20064630, 19718780, 31268906, 30897601, 32419253, 32970680, 10332045, 26328603, 38465286 1 0.00 320 5709 T C - + Ophthalmoparesis+respiratory impairment Reported 22189266 0 0.00 419 5715 A G nr nr Hearing loss patient Reported 32169613 13 0.02 138 5728 T C - + Multiorgan failure / myopathy Cfrm [LP] 16908752, 23847141, 31026515, 31965079 0 0.00 402 5774 T C nr nr Reported in tic disorder patient Reported 33289513 66 0.11 140 5780 G A - + SNHL Reported 12802679, 31965079 24 0.04 136 5783 G A - + Myopathy / deafness / gout / tic disorder Reported 16955414, 29976239, 31965079, 33289513, 36039763 44 0.07 464 5789 T C - + Late-onset NARP Reported 35252560 0 0.00 420 5794 T C nr nr Hearing loss/ tic disorder Reported 33289513, 31965079, 15338331, 30430429, 32169613 8 0.01 158 5802 T C + - DEAF1555 increased penetrance / obesity risk Reported 18386806, 19818876, 31965079, 31868206, 32010935, 32003422, 22538251, 32400865 3 0.00 421 5809 G A nr nr Hearing loss patient Reported 31965079, 32169613 1 0.00 62 5814 T C - + Encephalopathy / gout Reported [LB] 9384601, 8829635, 9185178, 11335700, 16132471, 16172508, 18977334, 20064630, 16947981, 29976239, 31965079, 17241783 221 0.36 149 5816 A G + - Progressive Dystonia Reported 17886296, 17724295, 25652200, 37771542 0 0.00 404 5819 T C nr nr Reported in tic disorder patient Reported 33289513 0 0.00 462 5820 C A + - MERRF Reported 34433719 0 0.00 194 5821 G A + - DEAF helper mut. Reported 16364244, 16955413, 19818876, 23563965, 31965079, 22538251 359 0.59 422 5822 G A nr nr Hearing loss patient Reported 31965079, 32169613 6 0.01 460 5835 G A nr nr Patient with proximal myopathy Reported 32504279 1 0.00 114 5843 A G + - FSGS / Mitochondrial Cytopathy Reported 14598342, 31965079 452 0.74 63 5874 T C - + EXIT Reported 11071502 0 0.00 461 5877 C T - + CPEO Reported 11594340 0 0.00 379 5889 A G - + Multisystem mitochondrial disorder Reported 31965079, 33279411 0 0.00 101 5911 C T A3V + - Prostate Cancer Reported 15647368 259 0.42 102 5913 G A D4N + - Prostate Cancer / hypertension Reported 15647368, 25701779, 22949535 543 0.89 18 5920 G A W6Term - + Myoglobinuria / EXIT Cfrm [LP] 10980727, 11506394, 11782982, 14520667 0 0.00 103 5935 A G N11S + - Prostate Cancer Reported 15647368 1 0.00 104 5973 G A A24T + - Prostate Cancer Reported 15647368 15 0.02 490 6020 C A A39A - + Possible association with sepsis Reported 33504965 0 0.00 137 6020 CGAGC : AELGQ-AGPATerm - + Motor Neuron Disease Reported 9450776 0 0.00 105 6081 G A A60T + - Prostate Cancer Reported 15647368 1 0.00 531 6145 G A W81Term nr nr Unspecified suspected mitochondrial disorder Reported 32652755 0 0.00 106 6150 G A V83I + - Prostate Cancer / enriched in POAG cohort Reported 15647368, 27217714 252 0.41 96 6253 T C M117T + - Prostate Cancer / enriched in POAG cohort Reported 15647368, 16892079, 27217714 592 0.97 98 6261 G A A120T + - Prostate Cancer / LHON Reported 15647368, 16892079, 17003408, 31817256 496 0.81 107 6267 G A A122T + - Prostate Cancer Reported 15647368 91 0.15 108 6285 G A V128I + - Prostate Cancer Reported 15647368 130 0.21 396 6307 A G N135S . + Asthenozoospermic infertility Reported 23712756 3 0.00 184 6328 C T S142F + - EXIT (Exercise Intolerance) Reported [VUS] 16284789, 21457906 0 0.00 97 6340 C T T146I + - Prostate Cancer Reported 15647368, 16892079 99 0.16 491 6367 T C V155A - + Possible association with sepsis Reported 33504965 23 0.04 395 6459 T C W186R + - Sepsis susceptibility Reported 30207067, 30334343 0 0.00 412 6474 A G T191A + - Maternally inherited childhood epilepsy and ataxia Reported 30831263 0 0.00 109 6480 G A V193I + - Prostate Cancer / enriched in POAG cohort Reported 15647368, 19022198, 21457906, 27217714 156 0.26 19 6489 C A L196I - + CO1 deficiency with epilepsia partialis continua Reported 12140182, 21457906, 29253894 90 0.15 532 6526 T C M208T nr nr Developmental delay, hypotonia, myopathy, failure to thrive Reported 32652755 0 0.00 492 6544 A C N214T - + Possible association with sepsis Reported 33504965 0 0.00 409 6547 T C L215P - + Leigh Syndrome Reported 2025303, 2124116, 38465286 4 0.01 411 6579 G A G226Term - + Leigh Syndrome Reported 30743023 0 0.00 267 6597 C A Q232K - + MELAS-like syndrome Reported 22832341 0 0.00 493 6649 C T P249L - + Possible association with sepsis Reported 33504965 0 0.00 99 6663 A G I254V + - Prostate Cancer Reported 15647368, 16892079, 27217714 198 0.32 190 6698 A : K-K_frameshift - + Myopathy Reported 18977334 0 0.00 123 6708 G A G269Term - + MM & Rhabdomyolysis Reported 15751226 0 0.00 90 6721 T C M273T - + Acquired Idiopathic Sideroblastic Anemia Reported [VUS] 9389715, 21457906 0 0.00 91 6742 T C I280T - + Acquired Idiopathic Sideroblastic Anemia Reported [VUS] 9389715, 21457906 0 0.00 374 6860 A C K319N + - Dilated Cardiomyopathy Reported 9344764 0 0.00 20 6930 G A G343Term - + Multisystem Disorder Cfrm [LP] 10441567, 11595737, 20547844 0 0.00 183 6955 G A G351D + + Mild EXIT and MR Reported 18484665 1 0.00 321 6962 G A L353L + - Possible helper variant for 15927A Reported 24470521 1447 2.37 216 7023 G A V374M - + MELAS-like syndrome Reported 19568996 1 0.00 110 7041 G A V380I + - Prostate Cancer Reported 15647368 6 0.01 494 7065 G A A388T - + Possible association with sepsis Reported 33504965 0 0.00 111 7080 T C F393L + - Prostate Cancer Reported 15647368 68 0.11 112 7083 A G I394V + - Prostate Cancer Reported 15647368 16 0.03 113 7158 A G I419V + - Prostate Cancer Reported 15647368 46 0.08 533 7222 A G Y440C nr nr Mitochondrial myopathy Reported 32652755, 22632780 0 0.00 489 7299 A G M466V + - LHON Reported 32358433 87 0.14 114 7305 A C M468L + - Prostate Cancer Reported 15647368 0 0.00 495 7379 G A L492L - + Possible association with sepsis Reported 33504965 23 0.04 282 7402 C : frameshift - + Isolated complex IV deficiency Reported 24667782 0 0.00 87 7443 A G Term514G + - DEAF Reported 10577941, 10739773, 16361254, 20064630 1 0.00 21 7444 G A Term514K + - LHON / SNHL / DEAF modulator Reported [LB] 8060346, 7770132, 8680405, 7603534, 7710535, 7599218, 10577941, 8600429, 1732158, 1322638, 7901141, 8240356, 10520236, 10739773, 12749053, 16152638, 16500624, 16361254, 17698030, 19371214, 19818876, 20064630, 21056478, 17489842, 21621438, 19705751, 29253894, 25968158, 17659260, 22538251, 32377700 213 0.35 89 7445 A G Term514Term + + SNHL Cfrm [P] 8019558, 7987332, 7994888, 10577941, 8572257, 9247714, 9450881, 9742104, 10220138, 10936107, 10905659, 10760311, 10633132, 11215518, 11691920, 11175301, 12655418, 15126302, 15477393, 15694374, 16132471, 15292920, 16361254, 18674747, 18402672, 18537605, 18639500, 20064630, 21621438, 29605341, 29921456, 29934116, 29253894, 22567359, 15987292, 11069477, 15620132, 16092542, 23525847, 30035268 1 0.00 134 7445 A G + + SNHL Cfrm [P] 8019558, 7987332, 7994888, 9247714, 9450881, 9742104, 10220138, 10577941, 8572257, 10936107, 10905659, 10760311, 10633132, 11215518, 11691920, 11175301, 12655418, 15126302, 15477393, 15694374, 16132471, 15292920, 16361254, 18674747, 18402672, 18537605, 20064630, 21621438, 17489842, 29605341, 29921456, 29934116, 31965079, 25968158, 32169613, 22538251, 22567359, 15987292, 11069477, 15620132, 16092542, 23525847, 30035268 1 0.00 133 7445 A C + - DEAF Reported 10577941, 16361254, 18639500, 20064630, 19705751, 25968158, 32169613 17 0.03 166 7445 A T + - SNHL Reported 18639500 3 0.00 88 7445 A C Term514S + - DEAF Reported 10577941, 10739773, 16361254, 18402672, 20064630, 19705751, 29253894, 25968158 17 0.03 296 7451 A T - + CPEO+ptosis Reported 23696415 0 0.00 282 7453 G A + - Fatal neonatal lactic acidosis / Neonatal lactic acidosis, exercise intolerance, mild ID Reported 22453297, 24667782, 32313153 0 0.00 174 7456 A G + - DEAF Unclear 15292920 15 0.02 230 7458 G A - + PEO Reported 20186009 0 0.00 243 7462 C T + - DEAF Reported 20722495 5 0.01 65 7471 C CC + + PEM / AMDF / Motor neuron disease-like Cfrm [P] 7581383, 9708714, 9778262, 9832034, 9778273, 10220138, 10094190, 15482956, 10545608, 10905659, 10760311, 11215518, 11378827, 11919191, 15126302, 15477393, 15833431, 15292920, 16368237, 17637808, 18398437, 18977334, 20722495, 20064630, 19718780, 17489842, 15382008, 23847141, 31965079, 22538251, 32504279, 34467602, 38465286 7 0.01 413 7471 C : nr nr Maternally inherited hypertension / deafness Reported [VUS](=7466d) 25968158, 31776834, 32169613 30 0.05 309 7472 A CA + + PEM / AMDF / Motor neuron disease-like See 7471insC 0 0.00 157 7472 A C + + MM / DMDF modulator Reported 15833431, 16368237, 18398437, 22538251 10 0.02 414 7474 A : nr nr Hearing loss and epilepsy Reported (=7474d) 19073569 4 0.01 423 7474 A G nr nr Hearing loss patient Reported 32169613 5 0.01 112 7480 T G - + MM Reported 15210164, 15477393, 19718780 0 0.00 471 7484 A G + - MERRF Reported 0 0.00 338 7486 G A - + CPEO Reported 29398297 0 0.00 313 7492 C T + - Hypertension / hearing loss risk factor Reported 26782414, 32377700 10 0.02 415 7496 T C nr nr Hearing Loss Reported 28027978, 25968158 3 0.00 66 7497 G A + + MM / EXIT Cfrm [LP] 9778262, 14605505, 15477393, 16199753, 20064630, 22781547, 29253894, 31965079 1 0.00 310 7501 T A nr nr Cardiovascular disease; renal disease patient Reported 25088491, 24491108, 23735083 1 0.00 405 7502 C T nr nr Reported in tic disorder patient Reported [VUS] 33289513 4 0.01 207 7505 T C + - Maternally inherited hearing loss Reported 20153673, 30336267, 25968158, 32169613, 22538251 0 0.00 147 7506 G A - + PEO with hearing loss Reported 17614276 0 0.00 67 7510 T C - + SNHL Cfrm [LP] 12471220, 18252214, 10978361, 10905659, 11215518, 16361254, 15126302, 15292920, 20064630, 17489842, 22781547, 23430555, 29299381, 32970680 1 0.00 68 7511 T C + + SNHL/Deafness Cfrm [LP] 10371545, 15670746, 18340555, 10905659, 10760311, 11215518, 12461693, 16361254, 12172268, 14960712, 15126302, 15477393, 15292920, 17637808, 20064630, 17489842, 29257206, 28320335, 31965079, 26279247, 25968158, 32169613, 22538251 2 0.00 69 7512 T C + + PEM / MERME / MELAS Reported 7669057, 9778262, 9832034, 11215518, 16361254, 15126302, 15477393, 16199753, 15292920, 20064630, 31965079, 17894844 0 0.00 395 7519 A : nr nr Deafness-associated Reported 33045734, 32169613 5 0.01 164 7520 G A nr nr Sporadic bilateral optic neuropathy Reported 18676632, 31965079 0 0.00 185 7526 A G - + Mitochondrial myopathy Reported 16059939 0 0.00 323 7539 C T - + Multisystemic mitochondrial disorder Reported 25447692, 31965079 0 0.00 70 7543 A G - + MEPR Reported 10488907, 27119776, 32970680 52 0.09 362 7551 A G + - DEAF increased penetrance (1555G helper) Reported 30592262, 27544295, 27536005, 32169613, 37789629 2 0.00 297 7554 G A - + Myopathy+ataxia+nystagmus+migraines+lactic acidosis Reported 23696415, 32970680 0 0.00 380 7566 G A nr nr Unspecified patient from clinical lab Reported 31965079 0 0.00 22 7587 T C M1T - + Mitochondrial Encephalomyopathy Cfrm [LP] 10205264, 21457906 0 0.00 269 7598 G A A5T - + Possible LHON helper variant Reported 16418878, 27498855 636 1.04 146 7623 C T T13I + - LHON Reported 17003408 0 0.00 391 7630 T : frameshift - + MELAS Reported 18245391 0 0.00 193 7637 G A E18K - + PD risk factor / neurological impairment Reported [VUS] 19076426, 38465286 2 0.00 23 7671 T A M29K - + MM Reported [VUS] 10486321, 21457906 0 0.00 413 7695 T C L37P - + Cerebellar and pyramidal syndrome with cognitive impairment Reported 30831263 0 0.00 262 7697 G A V38I + - Possible HCM susceptibility, high altitude adaptation Reported 19473338, 23563965, 27498855, 33420243, 27465874 311 0.51 224 7706 G A A41T + + Alpers-Huttenlocher-like Reported 12612282, 32652755 11 0.02 496 7749 T C I55T - + Possible association with sepsis Reported 33504965 2 0.00 161 7859 G A D92N + - Progressive Encephalomyopathy Reported 15286228 170 0.28 198 7868 C T L95F + - LHON Reported - possibly synergistic 19497304 14 0.02 175 7877 A C K98Q + - PEG glaucoma Reported 18246027 0 0.00 543 7887 G A G101D - + Cerebellar ataxia + neuropathy + exercise intolerance Reported 34325999 0 0.00 24 7896 G A W104Term - + Multisystem Disorder Cfrm [P] 11558799, 22342700, 31514455 0 0.00 497 7943 T C S120P - + Possible association with sepsis Reported 33504965 0 0.00 390 7965 T C F127S . + Hepatic failure / COX deficiency Reported 30461153, 28802248 1 0.00 139 7970 G T E129Term - + Encephalopathy Reported 16288875 0 0.00 92 7989 T C L135P - + Rhabdomyolysis Reported [VUS] 14733964, 17886296 0 0.00 273 8010 T C V142A - + Developmental delay, ataxia, seizure, hypotonia, lactic acidosis Reported 23463613 2 0.00 285 8021 A G I146V + - Asthenozoospermia Reported 24931671 4 0.01 25 8042 AT : frameshift - + Lactic Acidosis Reported [VUS] 11471180 0 0.00 199 8078 G A V165I + - DEAF Reported 17637808, 22241583 28 0.05 380 8088 T : frameshift - + Mitochondrial myopathy with complex IV deficiency Cfrm [LP] 30315213 0 0.00 94 8108 A G I175V + - SNHL Reported 15637703 74 0.12 367 8119 T : frameshift - + Biliary atresia Reported 29343773 0 0.00 341 8156 G : frameshift - + Multi-system mitochondrial disorder Reported 28521807 0 0.00 575 8163 A G Y193C - + Late-onset cerebellar ataxia Reported 31167410 0 0.00 574 8231 C A L216M - + Coronary artery disease risk factor Reported 32096057 0 0.00 362 8241 T G F219C - + MIDD+retinopathy Conflicting reports 28890306, 27422531 0 0.00 347 8249 G A G222Term + - Mitochondrial myopathy Reported 2624428, 23841600 0 0.00 71 8296 A G + + DMDF / MERRF / HCM / epilepsy / hearing loss Reported 9571188, 9802769, 9932960, 10220138, 10525672, 10737988, 11406419, 12504210, 11857739, 15126302, 15477393, 15100439, 18651333, 19370763, 15554876, 24689073, 29253894, 31965079, 32970680, 32169613 38 0.06 321 8299 G A - + PEO + respiratory impairment Reported 22326363, 31965079 0 0.00 72 8302 A T + - Encephalopathy Unclear 11335700 0 0.00 298 8304 G A - + Epilepsy+ataxia+visual disturbance+deafness Reported 23696415 0 0.00 365 8305 C T - + Mitochondrial myopathy Reported 29174468, 29472063, 29482911, 29467576 0 0.00 308 8306 T C - + Severe adult-onset multisymptom myopathy / Myoclonic epilepsy Cfrm [VUS*] 23847141, 22925535, 29663531 0 0.00 260 8311 T C + - Poss. hypertension factor Reported 19778529, 31965079 68 0.11 73 8313 G A - + MNGIE-like / Progressive mito cytopathy Cfrm [LP] 9380435, 15477393, 15100439, 12737626, 19618438, 29253894, 17620140, 35778412, 34557026 1 0.00 468 8315 A C - + MERRF Reported 35886028 0 0.00 132 8316 T C - + MELAS Reported 10996780, 15477393, 15100439 0 0.00 291 8319 A G - + Kearns-Sayre syndrome Reported 23463613, 31965079 0 0.00 118 8326 A G - + Mitochondrial Cytopathy Reported 12406974, 12400067, 15477393 0 0.00 74 8328 G A - + Mito Encephalopathy / EXIT with myopathy and ptosis Reported 10090475, 15477393, 15100439, 17410322, 19718780, 32970680 0 0.00 242 8332 A G + - Dystonia and stroke-like episodes Reported 19930207 0 0.00 261 8337 T C + - Poss. hypertension factor Reported 19778529, 31965079 175 0.29 424 8339 A G nr nr Hearing loss patient Reported 32169613 1 0.00 232 8340 G A - + Myopathy, Exercise Intolerance, CPEO-like /childhood epilepsy with SNHL & eye disease Cfrm [LP] 19941338, 23376095, 23838278, 24161205, 28729369, 29501485, 32970680, 36982871, 36999085, 34969639 0 0.00 75 8342 G A - + PEO and Myoclonus Reported [VUS] 10220860, 15477393, 15100439, 19718780, 32970680 0 0.00 171 8343 A G + - Metabolic syndrome and polycystic ovary syndrome / possible PD risk factor / deafness Reported 19076426, 29155328, 30194987, 31965079, 25968158, 32400865 63 0.10 76 8344 A G - + MERRF; Other - LD / depressive mood disorder / leukoencephalopathy / HiCM / lipomas Cfrm [P] 3180221, 2112427, 1674297, 1606473, 8454287, 8386419, 8388680, 8513395, 8447321, 8041403, 8198140, 1709275, 1487239, 8492942, 8428629, 1910259, 8228033, 1324294, 1661776, 1962048, 1431990, 8133313, 1910341, 8006688, 8139569, 2124116, 1899320, 1334369, 7850981, 7837776, 7647790, 7603535, 1463006, 7603509, 7739567, 7882812, 7603536, 9365365, 9541428, 9384601, 9798744, 9883816, 9818878, 10426322, 8622733, 17053148, 12471464, 12876264, 14639582, 10942580, 17275787, 7735877, 17989367, 8809026, 10862082, 10939569, 10611124, 11074292, 10699170, 10753928, 11160915, 11335700, 16120315, 15477393, 15100439, 15466086, 15619607, 15683723, 15893315, 7565871, 16483543, 16326995, 17236134, 17886296, 17653689, 18674747, 18319067, 18647627, 19370763, 19486129, 20064630, 19941338, 20123042, 21473984, 21935892, 22411789, 19718780, 23297368, 22577219, 22249460, 23376095, 23838278, 16815877, 10716764, 24642831, 9851442, 15164143, 12661941, 20581069, 18848389, 8559379, 1678125, 8170567, 19266142, 23390135, 25192510, 26995359, 16947981, 22781547, 25652200, 26404827, 15317755, 29288969, 29139113, 30674338, 23006856, 29390138, 30146801, 31178486, 31178476, 29650490, 8602753, 29253894, 31345444, 31965079, 17323145, 24961732, 30797798, 22538251, 14748908, 25559684, 34146515, 32504279, 28754700, 24931247, 35922766, 36675808, 36744444, 28716227, 31665838, 36928678, 23257519, 37038312, 37439868, 37737178, 23635963, 37988592, 38465286 4 0.01 388 8346 C : nr nr Rett Syndrome Reported 32105570 7 0.01 262 8347 A G + - Poss. hypertension factor Reported 19778529, 24689073, 31965079 20 0.03 77 8348 A G + + Cardiomyopathy / SNHL / poss. hypertension factor Reported 18252214, 11446509, 15477393, 15100439, 16337222, 20064630, 19778529, 20111055, 31965079 136 0.22 78 8355 T C - + Myopathy Reported 11335700, 15477393 0 0.00 79 8356 T C - + MERRF Cfrm [LP] 1361099, 8069654, 7739567, 15477393, 15100439, 16132471, 16483543, 20064630, 20610441, 25192510, 31965079, 22538251 0 0.00 376 8357 T C - + Multiple symmetric lipomatosis Reported 31912494 1 0.00 102 8361 G A - + MERRF Reported 14681892, 15477393, 25192510 0 0.00 80 8362 T G - + Myopathy Reported 11335700, 15477393, 15100439, 23847141, 29663531, 31965079 0 0.00 81 8363 G A - + MICM+DEAF / MERRF / Autism / Leigh Syndrome / Ataxia Cfrm [LP] 8651277, 9052804, 9932960, 10102446, 10868777, 11108511, 15477393, 15100439, 16326995, 18176892, 18319067, 19278689, 19370763, 20064630, 19718780, 21263444, 25192510, 15554876, 29983856, 25909222, 31965079, 22538251, 35821181 0 0.00 171 8381 A G T6A + - MIDD / LVNC cardiomyopathy-assoc. Reported 11062027, 15452396 16 0.03 551 8382 C T T6I - + Suspected mito disease / optic neuropathy Reported 32858252, 38465286 9 0.01 254 8393 C T P10S - + Reversible brain pseudoatrophy Reported 17101920, 21457906 311 0.51 278 8403 T C I13T + - Episodic weakness and progressive neuropathy Reported 24153443 4 0.01 251 8411 A G M16V + - Severe mitochondrial disorder Reported 20207608 2 0.00 405 8412 T C M16T + - Possible LHON helper mutation Reported 31817256 20 0.03 258 8414 C T L17F + - Increased risk of T2DM and high altitude polycythemia (HAPC) in haplogroup D4 / Longevity Reported 18468491, 33420243, 24498190 2307 3.77 478 8418 T C L18P + - Mitochondrial Respiratory Chain Disorder Reported 28027978 1 0.00 552 8424 T C L20P nr nr Suspected mito disease Reported 32858252 0 0.00 311 8481 C T P39L + - Tetralogy of Fallot patient Reported 23735083 10 0.02 382 8490 T C M42T + - Peripheral neuropathy of T2DM Reported 18682780, 18691441, 24456990 25 0.04 305 8519 G A E52K + - Possible susceptibility to bullous pemphigoid Reported 25941154, 31824475 159 0.26 314 8527 A G ATP8:K54K ATP6:M1M + - Neuromuscular disorder, possible helper mutation Reported 26993169 245 0.40 233 8528 T C ATP8:W55R ATP6:M1T + + Infantile cardiomyopathy / hyperammonemia Cfrm [LP] 19188198, 21457906, 26803244, 30763462, 34298071, 33180048, 30642647, 26741492, 27409572 0 0.00 234 8529 G A ATP8:W55Term ATP6:M1M + - Apical HCM Reported 17954552, 18620007 0 0.00 406 8551 T C ATP8:H62H ATP6:F9L + - Possible LHON helper mutation Reported 31817256 18 0.03 229 8558 C T ATP8:P65S ATP6:A11V + - Possibly LVNC cardiomyopathy-associated Reported 20211276 15 0.02 399 8561 C T ATP8:P66S ATP6:P12L - + Ataxia w psychomotor delay Reported 31788426 0 0.00 318 8561 C G ATP8:P66A ATP6:P12R + + Ataxia w neuropathy, DM, SNHL, and hypogonadism Reported 27502083 0 0.00 539 8572 G A ATP8:Term69Term ATP6:G16S + - Spinocerebellar ataxia Reported 34037856 214 0.35 458 8573 G A G16D + - Patient with suspected mitochondrial disease Reported by paper as Benign 30763462 66 0.11 540 8578 C T P18S + - Spinocerebellar ataxia Reported 34037856 31 0.05 424 8597 T C I24T - + Leigh Syndrome Reported 22348497, 30763462 17 0.03 498 8606 C T P27L - + Possible association with sepsis Reported 33504965 0 0.00 459 8608 C T P28S + - Patient with suspected mitochondrial disease Reported 30763462 1 0.00 342 8611 C CC frameshift - + Ataxia, microcephaly, developmental delay, intellectual disability Reported 28412374, 23847141 0 0.00 460 8612 T C L29P + - Patient with suspected mitochondrial disease Reported 30763462 0 0.00 344 8618 T TT frameshift - + NARP/cognitive decline+abnormal brain MRI+impaired kidney function Reported 19124644, 30763462, 32042910, 34732400 0 0.00 483 8639 T C I38T + - Possible LHON modulator Reported 23463613, 31743754, 32858252 26 0.04 244 8668 T C W48R + - LHON Reported 20454697 36 0.06 421 8691 A G K55K nr nr Infantile mito disease w subclinical hypothyroidism Reported 26053701, 30763462 7 0.01 270 8719 G A G65Term - + Suspected mito disease Reported 23463613, 32652755 0 0.00 461 8723 G T R66L 99% - Patient with suspected mitochondrial disease Reported 30763462 0 0.00 226 8741 T G L72R - + MILS protective factor Reported 19433277 0 0.00 484 8779 C T L85F + - Possible LHON modulator Reported 31743754 1 0.00 449 8782 G A G86Term - + Cerebellar ataxia+diabetes+kidney disease / ataxia+myoclonic epilepsy Reported 32042910 0 0.00 534 8783 G A G86E nr nr Unspecified suspected mitochondrial disorder Reported 32652755 1 0.00 159 8794 C T H90Y + - Exercise Endurance / Coronary Atherosclerosis risk Reported 15126279, 21099167 1759 2.88 227 8795 A G H90R - + MILS protective factor Reported 19433277 0 0.00 553 8806 C G P94A nr nr Suspected mito disease Reported 32858252 0 0.00 541 8812 A G T96A - + Spinocerebellar ataxia Reported 34037856 75 0.12 351 8821 T G S99A nr nr Possible LHON helper variant Reported 15896721 0 0.00 147 8836 A G M104V + - LHON Reported 17003408, 21457906, 32887465 169 0.28 423 8839 G C A105P - + NARP syndrome Reported 24118886, 30763462, 29467576 0 0.00 462 8843 T C I106T + - Patient with suspected mitochondrial disease Reported by paper as Likely Benign 30763462, 37083953 214 0.35 145 8851 T C W109R + + BSN / Leigh syndrome Cfrm [VUS*] 8554662, 21457906, 23206802, 24002810, 21470976, 29253894, 30763462, 18620007, 32652755 4 0.01 463 8881 T C S119P nr nr Patient with suspected mitochondrial disease Reported 30763462 3 0.00 320 8890 A G K122E - + Juvenile-onset metabolic syndrome Reported 23921547 0 0.00 554 8902 G A A126T nr nr Suspected mito disease Reported 32858252 9 0.01 542 8909 T C F128S + - Recurrent severe kidney disease and multiple systemic dysfunctions Reported 32971864 0 0.00 464 8921 G A G132D + - Patient with suspected mitochondrial disease Reported 30763462 9 0.01 100 8932 C T P136S + - Prostate tumor / Neuromuscular disorder Reported [B] 15647368, 18850577, 26993169 245 0.40 420 8936 T A L137H - + Atypical Leigh syndrome Reported [VUS] 29929013 1 0.00 465 8938 A G I138V + - Patient with suspected mitochondrial disease Reported 30763462 46 0.08 134 8950 G A V142I + - LDYT / Spinocerebellar Ataxia Reported 16196519, 18495510, 30763462, 34037856, 37083953 83 0.14 515 8951 T C V142A nr nr Patient with ataxia Reported 32504279 9 0.01 369 8959 G A E145K + + Developmental delay, intellectual disability, low citrilline Reported 29307858, 29480377 3 0.00 319 8969 G A S148N - + Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) / IgG nephropathy Cfrm [LP] 25037980, 29350304, 27812026, 27450679, 30763462, 34732400, 37988592 1 0.00 555 8969 G C S148T nr nr Suspected mito disease Reported 32858252 0 0.00 556 8975 T C L150P nr nr Suspected mito disease Reported 32858252 23 0.04 422 8989 G C A155P - + NARP syndrome Reported 23266623, 30763462 0 0.00 526 8993 TG CA L156P + + Developmental delay & myopathy Reported 32652755 0 0.00 27 8993 T C L156P - + NARP / Leigh Disease / MILS / other Cfrm [P] 8395787, 8190310, 8687192, 9568930, 9701486, 9762610, 9870208, 10417290, 10862082, 11074292, 15324306, 15466086, 16532470, 10222646, 17568559, 18055910, 17403843, 18402672, 18496570, 20064630, 20123042, 19747204, 21457906, 23297368, 24153443, 16049925, 24642831, 25192510, 26404827, 30095618, 29512743, 19875463, 10467733, 30128709, 8602753, 29253894, 30763462, 32042921, 31996241, 31187502, 18620007, 17323145, 19160410, 29101127, 14748908, 33717984, 28429146, 32858252, 31665838, 37038312 2 0.00 26 8993 T G L156R + + NARP / Leigh Disease / MILS / other Cfrm [P] 2137962, 1539598, 8095070, 8505474, 8042671, 8078883, 7529982, 7798979, 7605802, 7603783, 8830176, 8751860, 8687192, 9222207, 9568930, 9686360, 9870208, 1442494, 8240109, 8435424, 8250532, 1436530, 1550128, 8476414, 10426322, 10417290, 10092618, 10862082, 10611124, 11074292, 10611123, 11076946, 11331900, 12372991, 11925565, 14998933, 15647368, 16050991, 15753359, 17170133, 16483543, 16402916, 16525806, 16337222, 16532470, 17886296, 17545557, 17257906, 17518546, 17452590, 17568559, 17403843, 18261463, 18413591, 18674747, 18256697, 18402672, 18241671, 18496570, 18647627, 18850577, 19370763, 19433277, 20471050, 20138159, 9858860, 20064630, 20123042, 19747204, 21457906, 8858707, 11453454, 21120938, 20854934, 21550418, 15282179, 22080835, 23297368, 19891062, 24642831, 25192510, 25009317, 25152966, 28385334, 28385333, 26404827, 27206685, 27209570, 30095618, 29983856, 29587845, 29452638, 27466392, 30379275, 30726454, 30768233, 29307858, 10889120, 16639504, 19875463, 10590437, 10669202, 29602698, 25240982, 27450367, 27000225, 29224958, 30461153, 8602753, 29253894, 27450679, 27919073, 30369864, 29980632, 30763462, 32042921, 31996241, 31187502, 18620007, 17323145, 26725255, 15694179, 27129022, 17276738, 19667215, 19160410, 8750605, 16546428, 9199572, 9329425, 9556461, 10660580, 12404959, 32313153, 12134275, 11751691, 11730668, 11371515, 11843698, 10676807, 22241703, 23301511, 29850888, 17276742, 19669818, 19144360, 29101127, 31276579, 28754700, 16542579, 32220313, 14748908, 34080141, 34829316, 33717984, 28429146, 33600551, 32858252, 31665838, 37038312, 37439868, 37737178, 38465286 6 0.01 466 8999 T C V158A + - Patient with suspected mitochondrial disease Reported 30763462, 32858252 9 0.01 557 9008 C G T161S nr nr Suspected mito disease Reported 32858252 2 0.00 387 9010 G A A162T - + Unspecified neurological disorder Reported 30227252 28 0.05 124 9016 A G I164V - + LHON Reported 16050984, 17123466, 37083953 13 0.02 388 9017 T C I164T - + Unspecified neurological disorder Reported 30227252 14 0.02 558 9019 A G T165A nr nr Suspected mito disease Reported 32858252 0 0.00 358 9025 G A G167S + - Motor neuropathy, Leigh-like, colon cancer Reported 24986921, 30763462, 37083953 41 0.07 467 9026 G A G167D - + Spinocerebellar ataxia / patient with suspected mitochondrial disease Reported [VUS] 30763462, 24448545, 34037856 3 0.00 359 9029 A G H168R + + LHON-like Reported 24986921, 30763462, 32652755, 23463613, 37083953 1 0.00 360 9032 T C L169P - + NARP / Complex phenotype with microcephaly, ataxia, hearing loss, lactic acidosis Reported [VUS] 24986921, 30763462, 32931937, 32581362 0 0.00 222 9035 T C L170P + + Ataxia syndromes Cfrm [LP] 19626676, 22577227, 30763462, 31187502, 29467576, 32858252 0 0.00 468 9041 A G H172R - + Patient with suspected mitochondrial disease Reported 30763462 52 0.09 535 9049 G A G175Term nr nr Unspecified suspected mitochondrial disorder Reported 32652755 0 0.00 221 9055 G A A177T + - PD protective factor Reported [B] 12618962, 16773565 2566 4.20 230 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 33 0.05 306 9071 C T S182L + - Potentially functional variant cosegregating with LHON3635A Reported 23304069 16 0.03 469 9088 T C S188P - + Patient with suspected mitochondrial disease Reported by paper as Likely Benign 30763462 25 0.04 228 9098 T C I191T + - Predisposition to anti-retroviral mito disease Reported 19947808 67 0.11 28 9101 T C I192T + - LHON Reported 7726182, 16132471, 21457906, 27498855, 30763462, 18620007, 20301353, 35773337 62 0.10 470 9115 A G I197V + - Patient with suspected mitochondrial disease Reported 30763462, 17320116 27 0.04 343 9127 AT : IL-PTerm - + NARP Reported 29054413 0 0.00 471 9133 G A E203K + - Patient with suspected mitochondrial disease Reported 30763462 4 0.01 338 9134 A G E203G nr nr Hypotonia, lactic acidosis, HCM, IUGR Reported 22231385, 30763462, 32652755 0 0.00 173 9139 G A A205T + - LHON Reported - possibly synergistic 18216301, 37083953 50 0.08 472 9152 T C I209T - + Patient with suspected mitochondrial disease Reported [VUS] 30763462 17 0.03 545 9154 C T Q210Term - + Peripheral neuropathy ataxia IgA nephropathy Reported 34418069, 34635923, 37737178 0 0.00 392 9155 A G Q210R - + MIDD, renal insufficiency Cfrm [LP] 27450679, 27966441, 34961688 0 0.00 370 9155 A T Q210L + + Developmental delay, intellectual disability, low citrilline Reported 29307858 0 0.00 431 9166 T C F214L + + EXIT+more / bilateral optic neuropathy Reported 32419253, 28027978 0 0.00 30 9176 T G L217R + + Leigh Disease / Spastic Paraplegia / Spinocerebellar Ataxia Cfrm [LP] 11119722, 11382202, 18402672, 11731285, 29307858, 11245730, 15176724, 19875463, 29253894, 30763462, 19160410, 38465286 1 0.00 29 9176 T C L217P + + FBSN / Leigh Disease / Spinocerebellar Ataxia Cfrm [P] 7668837, 9270604, 9501263, 9631394, 10862082, 16120341, 15753359, 18402672, 19370763, 20074547, 20064630, 19747204, 20056103, 21457906, 21819970, 20656066, 24153443, 24642831, 30136164, 30128709, 29253894, 29756269, 30763462, 32042921, 31996241, 31187502, 18620007, 29038134, 31625254, 19160410, 32686207, 34037856, 28429146, 31424416, 32858252 3 0.00 132 9185 T C L220P + + Leigh Disease / Ataxia syndromes / NARP-like disease / Episodic weakness and Charcot-Marie-Tooth Cfrm [P] 16217706, 18461509, 17352390, 19747204, 20546952, 21473984, 21457906, 22577227, 24153443, 23847141, 25548692, 22933740, 29228836, 30128709, 30461153, 29253894, 29756269, 30763462, 32042921, 31996241, 31187502, 18620007, 24316278, 29116603, 31500933, 28754700, 27783406, 28132834, 27290639, 34329598, 33717984, 28429146, 29467576, 36137325, 32858252, 37737178 3 0.00 133 9191 T C L222P - + Leigh Disease Cfrm [LP] 16217706, 30763462, 18620007, 32708436, 24316278 0 0.00 83 9205 TA : Ter-M + - Encephalopathy / Seizures / Lacticacidemia Cfrm [LP] 8739943, 12915481, 14585098, 18221507, 16326995, 24667782, 15265003, 30763462, 18620007 0 0.00 479 9237 G A V11M na na Mitochondrial Respiratory Chain Disorder Reported 28027978 0 0.00 499 9266 G T G20G - + Possible association with sepsis Reported 33504965 1 0.00 304 9267 G C A21P - + MIDD Reported 25701779 0 0.00 414 9331 T C L42P + - Failure to thrive with metabolic acidosis, cognitive impairment, optic atrophy Reported 30831263 1 0.00 188 9379 G A W58Term - + MM w lactic acidosis Reported [VUS] 12414820 0 0.00 286 9387 G A V61M - + Asthenozoospermia Reported 23645088 0 0.00 516 9399 A G S65G nr nr Patient with epilepsy, myopathy, hypoacusis, psychiatric disorders Reported 32504279 1 0.00 500 9403 C A T66K - + Possible association with sepsis Reported 33504965 0 0.00 501 9415 A G H70R - + Possible association with sepsis Reported 33504965 0 0.00 31 9438 G A G78S + - LHON / gout Conflicting reports 8037217, 8037201, 7804416, 8053461, 7710535, 7599218, 8240356, 10520236, 7573056, 16132471, 18161625, 21457906, 29976239 761 1.24 407 9444 C T R80W + - Possible LHON helper mutation Reported 31817256 1 0.00 250 9478 T C V91A - + Leigh Disease Reported [VUS] 20525945, 29253894, 23301511 22 0.04 144 9480 TTTTTCTTCGCAGGA : FFFAG-del - + Myoglobinuria Cfrm [LP], alt locus at 9487del15 8630495, 10788526, 11506394, 11782982, 20854934 0 0.00 377 9487 TCGCAGGATTTTTCT : FFAGFF-del - + Myoglobinuria alt loc to 9480del15 [LP] 8630495 0 0.00 379 9490 C T A95V + - Gout Reported 29976239 24 0.04 32 9537 C CC frameshift + - Leigh Disease Reported 11063732, 18977334 0 0.00 187 9544 G A G113E nr nr Sporadic bilateral optic neuropathy Reported 18676632 0 0.00 576 9553 G A W116Term - + Adult-onset MELAS Reported 33863631 0 0.00 264 9559 C : frameshift - + Rhabdomyolysis Reported 21163656 0 0.00 148 9660 A C M152L + - LHON Reported 17003408 0 0.00 33 9738 G T A178S + - LHON Reported 7804416 0 0.00 140 9789 T C S195P - + Myopathy Reported 16288875 0 0.00 34 9804 G A A200T + + LHON / MS Reported [VUS] 7710535, 7599218, 8240356, 10520236, 11339587, 16132471, 21457906, 23735083, 30831606, 11579587, 27119776, 20301353 181 0.30 378 9856 T C I217T + - LVNC cardiomyopathy / gout Reported 23465694, 29976239 21 0.03 155 9861 T C F219L + - AD Reported 16358358 127 0.21 567 9907 G A G234D - + Cavitating leukodystrophy Reported 37038312 0 0.00 408 9921 G A A239T + - Possible LHON helper mutation Reported 31817256 67 0.11 35 9952 G A W249Term - + Mitochondrial Encephalopathy Cfrm [LP] 9634511 0 0.00 36 9957 T C F251L - + PEM / MELAS / NAION / HCM / gout Reported 7496173, 15823923, 18587274, 21249588, 15282179, 10065021, 29976239, 32652755 47 0.08 352 9966 G A V254I nr nr LHON possible helper variant Reported 15896721 401 0.66 219 9972 A C I256L - + EXIT & APS2 - possible link Reported 19460300 2 0.00 525 9984 G A G260Term nr nr Suspected mito disease Reported 17403843, 32652755 0 0.00 82 9997 T C - + MHCM Reported 8079988, 10090480, 15477393, 20064630, 29253894 1 0.00 377 9997 T A nr nr Unspecified patient from clinical lab Reported 31965079 0 0.00 470 10000 G A - + Multisystem mitochondrial disorder Reported 35432167 1 0.00 372 10003 T C + - Hypertension / maternally inherited diabetes / hearing loss Reported 27544295, 31965079, 26134044, 32169613, 25615420 12 0.02 425 10005 A G nr nr Hearing loss patient Reported 31965079, 24470521, 32169613 22 0.04 83 10006 A G + - CIPO / Encephalopathy Unclear 1709275, 8129854, 11335700, 15477393, 31965079 15 0.02 84 10010 T C - + PEM Cfrm [VUS*] 9199564, 11971101, 10611123, 16120360, 15477393, 17886296, 20064630, 23847141, 25652200, 26469001, 32948797 0 0.00 85 10014 G A + - Myopathy Unclear 11335700, 31965079 0 0.00 426 10019 C T nr nr Hearing loss patient Reported 32169613 0 0.00 86 10044 A G - + SIDS Unclear 8888049, 10598821, 12160969, 15477393, 15466077, 16773565, 16947981, 29253894, 31965079 185 0.30 406 10055 A G nr nr Tic disorder patient / hearing loss patient Reported 33289513, 31965079, 23463613, 32169613 12 0.02 428 10057 T C nr nr Hearing loss patient Reported 32169613 6 0.01 277 10086 A G N10D + - Hypertensive end-stage renal disease Reported 23563965, 11532685, 27217714, 29987491 465 0.76 403 10134 C A Q26K - + Leigh Disease Reported [VUS] 25118196 0 0.00 426 10142 C T N28N nr nr Recurrent pregnancy loss Reported 28696810 697 1.14 82 10158 T C S34P + + Leigh Disease / MELAS Cfrm [P] 14764913, 14705112, 15576045, 15372108, 15972314, 17152068, 18402672, 18977334, 20064630, 20972245, 21457906, 14684687, 24642831, 21364701, 29237403, 28050007, 28883258, 30095618, 27742419, 27914863, 28522224, 28916229, 29054334, 29500099, 29987491, 30128709, 22115768, 31996177, 32371897, 32504279, 28429146, 34732400, 37038312, 26741492 0 0.00 415 10189 T C M44T - + Behavior alteration with dilated cardiomyopathy Reported 30831263 1 0.00 37 10191 T C S45P - + Leigh Disease / ESOC Cfrm [P] 11456298, 14705112, 15576045, 15972314, 17535832, 17152068, 17413873, 18402672, 18977334, 19617458, 20064630, 20226758, 20972245, 21457906, 14684687, 16044424, 24642831, 23847141, 21364701, 16023078, 30095618, 29987491, 30128709, 30461153, 27450679, 31261379, 28429146, 35715829, 37196589, 37038312, 26741492, 21850008, 38437941 0 0.00 577 10197 G C A47P - + Leigh Disease Reported 38437941 0 0.00 157 10197 G A A47T + + Leigh Disease / Dystonia / Stroke / LDYT Cfrm [P] 12509511, 15372108, 17152068, 17413873, 11130070, 18977334, 19458970, 18800376, 20064630, 20972245, 21978175, 21364701, 30095618, 30899856, 30128709, 30461153, 29253894, 30978515, 30978516, 30199507, 32045392, 28429146, 35715829, 37038312, 38465286 3 0.00 136 10237 T C I60T + - LHON Reported 12227465, 29987491, 20301353, 35773337 100 0.16 303 10254 G A D66N - + Leigh Disease Cfrm [LP] 20202874 0 0.00 521 10350 C A L98M + - LHON Reported 34177762 0 0.00 165 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, 12670626, 15488317, 15786469, 15483642, 15827561, 16140977, 15975594, 16895436, 17510395, 17701054, 17627010, 17886251, 18679013, 17288645, 18262047, 18286226, 18226984, 18177933, 18709563, 19390621, 20043118, 20067846, 21457906, 17174475, 16773565, 27217714, 28793231, 28648514, 23111160, 17620498, 25199876, 29987491, 31797714, 24917144, 31358833, 34045735, 34120353, 35146807 25902 42.37 128 10398 A A T114T + - Invasive Breast Cancer risk factor AD PD BD lithium response Type 2 DM Reported; lineage N marker except hg IJK 14604458, 15234467, 15211636, 16140977, 16892079, 16895436, 17701054, 17066297, 17390150, 17288645, 18262047, 18177933, 17081685, 16452251, 27217714, 26782384, 19763141, 25199876, 30369864, 29997041, 34045735 35215 57.60 150 10406 G A - + Mitochondrial myopathy Reported 17588757, 21263444, 31965079 0 0.00 381 10408 T C nr nr Unspecified patient from clinical lab Reported 31965079 0 0.00 474 10410 T C + - Possible maternally inherited hypertension risk factor Reported 33625761 284 0.46 354 10411 A T + - Dilated Cardiomyopathy Reported 9344764 0 0.00 355 10415 T C + - Dilated Cardiomyopathy Reported 9344764 0 0.00 277 10437 G A - + Mitochondrial myopathy Reported 22781096 0 0.00 146 10438 A G - + Progressive Encephalopathy Reported [VUS] 15286228 0 0.00 398 10438 A T - + Non-dystrophic myopathy Reported 30430429 0 0.00 280 10450 A G - + Combined OXPHOS defects & severe multisystem disorder Reported [VUS] 19809478 0 0.00 181 10454 T C + - Possible deafness or maternally inherited hypertension risk factor Reported 16955413, 19818876, 27498855, 31965079, 22538251, 33625761 229 0.37 382 10460 T C nr nr Unspecified patient from clinical lab Reported 31965079 0 0.00 149 10543 A G H25R - + LHON Reported 17003408 0 0.00 150 10591 T G F41C - + LHON Reported 17003408 0 0.00 522 10609 T C M47T nr nr Type 2 diabetes patients with underlying 3243G / LHON patient with 10663C Reported 24568867, 33402819 1432 2.34 202 10652 T C I61I - + BD / MDD-associated Reported 19290059 57 0.09 38 10663 T C V65A + - LHON Cfrm [LP] 8680405, 11935318, 16523671, 15972314, 17003408, 18402672, 21457906, 22879922, 28991104, 29210930, 29987491, 29253894, 31817256, 20301353, 24568867, 35778412 2 0.00 523 10676 C G C69W nr nr Type 2 cataract patients with underlying 3243G Reported 33402819 1 0.00 197 10680 G A A71T + - LHON / synergistic combo 10680A + 12033G + 14258A Reported / possibly synergistic 19394449, 20643099, 29444077, 29987491, 22400981 18 0.03 364 11042 T C Y95H - + Biliary atresia Reported 29343773 0 0.00 365 11048 T : frameshift - + Biliary atresia Reported 29343773 0 0.00 39 11084 A G T109A + + AD, PD MELAS Conflicting reports 1323207, 8213827, 15972314, 21457906, 18468491, 23563965, 29987491 224 0.37 450 11150 G A A131T + - Found in a Multiple Sclerosis patient Reported 31798871 151 0.25 78 11232 T C L158P - + CPEO Reported 14581685, 15972314, 18402672, 29987491, 32652755 0 0.00 322 11240 C T L161F - + Leigh Syndrome Reported 27761019, 29987491 0 0.00 397 11251 A G L164L nr nr Reduced risk of PD Reported 23645593, 30369864 6014 9.84 143 11253 T C I165T + - LHON PD Reported 10737123, 12150954, 12271374, 29987491, 29253894, 20301353, 36827238 319 0.52 260 11365 T C A202A + - found in HCM patient Reported 16266762 129 0.21 309 11375 A C K206Q + - found in sCJD patient Reported 24667788 0 0.00 488 11406 T A L216H - + MELAS Reported 32659360 0 0.00 211 11467 A G L236L + - Altered brain pH / sCJD patients Reported 19290059, 16773565, 24667788 7901 12.92 346 11470 A C K237N - + MELAS Reported 21850008 0 0.00 451 11519 A C T254P + - ND4 mutation set found in a Multiple Sclerosis patient Reported 31798871 0 0.00 452 11523 A C K255T + - ND4 mutation set found in a Multiple Sclerosis patient Reported 31798871 0 0.00 453 11527 C T H256H + - ND4 mutation set found in a Multiple Sclerosis patient Reported 31798871 25 0.04 275 11621 TA : frameshift - + CPEO, exercise intolerance Reported 23463613, 32652755 0 0.00 40 11696 G A V313I + + LHON / LDYT / DEAF / hypertension helper mut. Reported / possibly synergistic 8644732, 15972314, 16364244, 17300996, 17123466, 17922426, 19818876, 21482521, 21457906, 17723226, 27159682, 29987491, 29253894, 29387390, 20301353, 35104579 365 0.60 77 11777 C A R340S - + Leigh Disease Cfrm [LP] 16120329, 12707444, 15576045, 15972314, 18402672, 18977334, 20064630, 20502985, 21457906, 24642831, 30095618, 29428506, 37038312 0 0.00 41 11778 G A R340H + + LHON / Progressive Dystonia Cfrm [P] 3201231, 2566021, 2566116, 2575667, 2817063, 2757028, 2390098, 2286378, 2222273, 2346190, 2346203, 1977373, 1959619, 1937476, 1866007, 1895564, 1770665, 1900003, 1763894, 2039048, 1770533, 1734726, 1444915, 8240103, 1353825, 1635296, 1575231, 1532593, 1352537, 1346348, 8448903, 8240101, 8457609, 8255489, 7901141, 8320863, 8213820, 8103501, 8474822, 8449667, 8489411, 8101084, 8401538, 8240102, 8489402, 8023847, 8118464, 8270249, 8024249, 8023848, 8250088, 8053461, 7916404, 8071952, 8071960, 8195807, 7926004, 7853025, 7770132, 7924787, 7821467, 8165962, 7977345, 7814218, 7801223, 8680405, 7617199, 7707093, 7611298, 7635294, 7603534, 7832241, 7601652, 7649539, 7823072, 7710535, 7629530, 7617193, 7639060, 7735876, 7760326, 7599218, 7763260, 7612556, 8662757, 8659512, 8755941, 8931573, 8600429, 8867076, 9012411, 9125387, 9302261, 9412783, 9150158, 9541428, 9685604, 9541429, 10413253, 10520236, 10426138, 10636656, 10545708, 10216058, 10939569, 10611124, 11074292, 11001192, 11124301, 11169561, 11754070, 11339587, 14750573, 11523562, 11331900, 11162998, 11754915, 12185132, 12402249, 12402246, 12436196, 12464729, 12379308, 12409182, 8941270, 12464728, 16120317, 12560876, 12446713, 14620678, 12888043, 14671420, 15126312, 15060117, 16120371, 15548492, 16120433, 15282189, 16083845, 16380918, 15896721, 15883259, 15707996, 16050984, 15804271, 15838728, 15728653, 16148621, 16431939, 16532388, 15972314, 16617593, 16624503, 16528519, 17003408, 17072496, 16829155, 16972023, 16705513, 16477364, 17886296, 17573650, 17296905, 17366829, 17460303, 17479363, 17406640, 17300996, 17942074, 17292333, 18216301, 18674747, 18771762, 17197509, 18363168, 18214789, 18320530, 18070226, 18676632, 19026397, 18647627, 18619472, 18775412, 18806273, 19710181, 19525327, 19936068, 19370763, 19319978, 19268652, 19098324, 19255150, 19800080, 20728388, 20471050, 20837795, 20064630, 20123042, 20599858, 20211598, 20676915, 20454697, 21067478, 20809775, 20232220, 19726426, 20691156, 20407791, 20435583, 19247386, 21063443, 21482521, 15720387, 21414825, 15026512, 20111055, 18848389, 21457906, 12815198, 21788663, 16044424, 21810891, 17204919, 21694444, 21397051, 20632027, 21253496, 20943885, 15282179, 22039503, 22110754, 22410442, 22194643, 15629832, 15629831, 21887510, 23297368, 7745422, 17724295, 8556281, 22108605, 23847141, 24404670, 25192510, 26438859, 26647310, 25053773, 12711217, 26959136, 16564802, 27847334, 28040497, 26605371, 27746671, 27177320, 15342361, 29049835, 28481993, 28093355, 26404827, 28233183, 27787713, 29116953, 29047345, 27071925, 27159682, 12807863, 27721048, 28219504, 29890302, 29983856, 25909222, 29587845, 30081212, 30558558, 29427840, 28392196, 30572950, 29428506, 31040363, 29133642, 28991104, 28994349, 30304398, 30936345, 30516647, 29955763, 30831606, 19015050, 27427386, 30597069, 29253894, 31727544, 30369864, 21145289, 29387390, 28640805, 11579587, 31226990, 31817256, 9175737, 26892229, 28650878, 29189152, 27119776, 31718067, 29980632, 31584786, 30968497, 32740724, 31932089, 32723871, 32516135, 31776719, 32704028, 27749593, 10976107, 33552719, 33185792, 33709232, 25338955, 26410888, 33706792, 28314831, 29554000, 17122117, 12518276, 32991883, 32969847, 33159657, 32991388, 32096343, 32220313, 32277753, 33584522, 32887465, 15033723, 14748908, 16331570, 33911213, 34108929, 34168607, 33451738, 27127184, 20301353, 32284191, 29649796, 11853713, 32504279, 34146515, 32259370, 31896800, 33298565, 34573281, 34467602, 4003041, 34122299, 34310464, 34584057, 34415266, 34417770, 20628600, 24369379, 27426279, 32105823, 28716668, 20625049, 16083844, 18235013, 20019878, 21859767, 22523243, 25342621, 24457989, 24525545, 22669418, 26606867, 28647203, 33477675, 11937918, 29454364, 10087740, 27631475, 34667002, 34673906, 34915201, 35190400, 20491810, 35104579, 34670133, 8742999, 35723074, 12638016, 9561832, 24508359, 33095398, 35623556, 35858578, 35791239, 35690699, 36361994, 36358916, 36565700, 36565701, 35778412, 36350566, 36827238, 37038312, 23091534, 37737178, 37587338, 11741983, 37878684, 31939618, 37988592, 38346855 190 0.31 42 11832 G A W358Term - + EXIT / oncocytoma Reported 10360780, 11506394, 11782982, 15972314, 18402672, 20028790 0 0.00 151 11874 C A T372N + - LHON Reported 17003408, 29987491 0 0.00 560 11914 G A T385T nr nr Possible susceptibility to bullous pemphigoid Reported 31824475 6436 10.53 119 11919 C T S387F + - Thyroid Cancer Cell Line Reported 15608681, 29987491 1 0.00 371 11984 T C Y409H + - Leigh Syndrome Reported 17022785, 19043581 63 0.10 178 11994 C T T412I + - Oligoasthenoteratozoospermia (OAT) Conflicting reports 17069814, 17517394, 29987491 0 0.00 389 12015 T C L419P - + Atypical MELAS Reported 30949164, 31293567 3 0.00 43 12026 A G I423V + - DM Reported 9519725, 15972314, 29987491, 19199242 265 0.43 213 12027 T C I423T nr nr SZ-associated Reported 14623372, 19290059 2 0.00 348 12033 A G N425S + - LHON synergistic combo 10680A + 12033G + 14258A Reported: individually neutral variants causing LHON in combination 29444077 22 0.04 427 12063 C T T435I nr nr Recurrent pregnancy loss Reported 28696810 39 0.06 407 12141 A G nr nr Reported in tic disorder patient Reported 33289513 9 0.01 316 12146 A G + + MELAS Reported 21704194 0 0.00 108 12147 G A - + MERRF-MELAS / Encephalopathy Cfrm [LP] 14967777, 15111688, 16483543, 20064630, 19718780, 31965079 0 0.00 292 12148 T C - + Developmental delay, optic atrophy, cataract, hearing loss, myopathy Reported 23463613, 31965079, 37961166 1 0.00 463 12158 A G - + MELAS Reported 35092007, 24931247 0 0.00 429 12167 T C nr nr Hearing loss patient Reported 32169613 2 0.00 385 12182 A G + - Sclerosis-like symptoms + white matter alterations Reported as VUS 30831263 2 0.00 87 12183 G A - + RP + DEAF Reported 12682337, 19718780, 29253894 1 0.00 307 12187 C A + - Asthenozoospermia Reported 24931671 0 0.00 430 12188 T C nr nr Hearing loss patient Reported 31965079, 16738010, 32169613 31 0.05 88 12192 G A + - MICM / possible G15927A deafness modulator Reported 10621222, 12560876, 31965079, 30854964, 33552719 126 0.21 286 12201 T C - + Maternally inherited non-syndromic deafness Cfrm [LP] 21931169, 31819004, 24920829, 31965079, 23463613, 33064405, 32169613, 22538251, 34991096 1 0.00 299 12206 C T - + MELAS-like encephalopathy+bilateral optic atrophy Reported 23696415 0 0.00 137 12207 G A - + Myopathy / Encephalopathy Reported 12406974, 16950817, 27450679, 36967720 0 0.00 195 12224 C T + - DEAF helper mutation Reported 19818876, 22538251 4 0.01 431 12235 T C nr nr Hearing loss patient Reported 31965079, 32169613 230 0.38 180 12236 G A + - DEAF Reported 17637808, 23563965, 23847141, 22241583, 31965079 436 0.71 89 12246 C A nr nr CIPO Reported 1709275, 8129854 4 0.01 383 12258 C T nr nr Unspecified patient from clinical lab Reported 31965079 0 0.00 90 12258 C A - + DMDF / RP+SNHL Cfrm [LP] 9792552, 10090882, 15126302, 17653689, 19718780, 25652200, 29253894, 11938495, 15983868 1 0.00 285 12261 T C - + Myopathy+epilepsy+retinal degeneration+DEAF Reported 22378285 0 0.00 276 12262 C A - + Progressive MM+Deafness+Seizures Reported 21257182, 32504279 0 0.00 275 12264 C T + + Multisystem Disease with Cataracts / Myopathy+epilepsy+DEAF+atypical autism Reported 22369973, 22378285, 31965079 0 0.00 477 12271 T C nr nr Unspecified mitochondrial disease Reported [VUS] 0 0.00 159 12276 G A - + CPEO Cfrm [LP] 15591266, 15649400, 23847141, 31965079 1 0.00 476 12278 T C - + MODY diabetes mellitus Reported 38397113, 30671084, 31965079 1 0.00 408 12279 A G nr nr Reported in tic disorder patient Reported 33289513 258 0.42 360 12280 A G + - Hypertension Reported 30783460, 31965079 95 0.16 236 12283 G A - + CPEO Reported [VUS] 19853445, 25652200 1 0.00 341 12293 G A - + Axial mitochondrial myopathy / EXIT+myalgia+ptosis Reported 25223649, 31965079, 32419253 0 0.00 101 12294 G A - + CPEO / EXIT+Ophthalmoplegia Cfrm [VUS*] 14581685, 29052516 0 0.00 111 12297 T C + + Dilated Cardiomyopathy / Leigh Syndrome / Failure to Thrive & LA Reported 10602359, 11313776, 19062322, 20064630, 21882289, 31965079 50 0.08 139 12299 A C - + MELAS Reported 17092464 0 0.00 152 12300 G A - + 3243 suppressor mutant Reported 9537417, 9817933, 15328906, 10628996, 32970680, 16446307, 22538251 0 0.00 91 12308 A G + + CPEO / Stroke / CM / Breast & Renal & Prostate Cancer Risk / Altered brain pH /sCJD Reported [B] 8155739, 1709275, 1757091, 8079988, 8254046, 1910259, 1542564, 9384601, 16406974, 14571278, 11145497, 11406419, 11313776, 18502698, 18709563, 19290059, 16773565, 24667788, 16947981, 31965079 7883 12.89 92 12311 T C + + CPEO Reported 7525879, 7804130, 16947981, 31965079 74 0.12 99 12313 T C - + FSHD Reported 18343111 0 0.00 93 12315 G A - + CPEO / KSS / possible carotid atherosclerosis risk, trend toward myocardial infarction risk Cfrm [LP] 9361028, 8923013, 10332036, 12398839, 18977334, 20064630, 19718780, 28951770, 23631826, 29670672, 23395464, 23874496, 25834827, 31965079, 31540444 0 0.00 165 12316 G A - + CPEO / mitochondrial myopathy Cfrm [VUS*] 18603265, 23847141, 20163808 0 0.00 300 12317 T C - + CPEO+ptosis+myopathy+exercise intolerance+diabetes Reported 23696415 1 0.00 94 12320 A G - + MM Reported 9012410, 9207784, 10611123, 17886296, 19718780, 25652200, 23631826 0 0.00 439 12325 C : nr nr Hearing loss patient Reported 32169613 0 0.00 442 12334 G A - + CPEO Reported 32310184 0 0.00 384 12335 T C nr nr Unspecified patient from clinical lab Reported 31965079 0 0.00 179 12338 T C M1T + - DEAF1555 increased penetrance / LHON / MIDD Conflicting reports 19818876, 21131053, 18386806, 21482521, 15278763, 21724059, 21419139, 29579248, 29987491, 29387390, 34993838 201 0.33 548 12350 C A T5N - + SNHL + neurodevelopmental delay Reported 27155156 0 0.00 265 12361 A G T9A + - Non-alcoholic fatty liver disease Reported 22153811, 29987491 391 0.64 210 12372 G A L12L + - Altered brain pH / sCJD patients Reported 19290059, 16773565, 24667788, 36127429 8474 13.86 255 12397 A G T21A + - PD, early onset Reported 21457906, 18524835, 29987491 378 0.62 385 12414 T : frameshift nr nr EXIT Reported 23847141 0 0.00 241 12425 A : frameshift - + Mitochondrial myopathy & renal failure Cfrm [LP] 20018511 2 0.00 261 12477 T C S47S + - Possible HCM susceptibility Reported 16266762 307 0.50 247 12622 G A V96I + + Leigh Disease Conflicting reports 17400793, 29987491, 32652755 10 0.02 310 12631 T A S99T + - found in 2 sCJD patients Reported 24667788, 23735083 0 0.00 115 12634 A G I100V + + Thyroid Cancer Cell Line Reported 15608681, 27498855, 29987491 242 0.40 428 12662 A G N109S nr nr Recurrent pregnancy loss Reported 28696810 82 0.13 375 12686 T A F117Y + - Dilated Cardiomyopathy Reported 9344764 0 0.00 448 12705 C T I123I nr nr Possible protective factor for normal tension glaucoma Reported 30312593 24217 39.61 84 12706 T C F124L - + Leigh Disease Cfrm [LP] 11938446, 15972314, 18402672, 20064630, 21457906, 14684687, 23847141, 21364701, 17317336, 30095618, 31996177, 32652755 0 0.00 85 12770 A G E145G - + MELAS Reported [VUS] 15972314, 18332249, 21457906, 12509858, 29253894 1 0.00 376 12778 G C G148R + - Dilated Cardiomyopathy Reported 9344764 0 0.00 152 12782 T G I149S - + LHON Reported 17003408 0 0.00 236 12811 T C Y159H + - Possible LHON factor Reported [B] 8600429, 7901141, 19022198, 23304069, 29987491, 29253894, 29387390, 19026397, 20301353, 33493461 681 1.11 129 12848 C T A171V - + LHON Reported [VUS] 16240359, 21457906, 20301353 0 0.00 536 12858 C A Y174Term nr nr Unspecified suspected mitochondrial disorder Reported 32652755 0 0.00 433 12955 A G N207D - + EXIT and developmental delay Reported 26014388 0 0.00 156 13042 G A A236T - + Optic neuropathy/ retinopathy/ LD Cfrm [LP] 15767514, 16816025, 17400793, 18332249, 21457906, 15382008, 29253894, 31996177, 35778412 2 0.00 86 13045 A C M237L - + MELAS / LHON / Leigh overlap syndrome Reported [VUS] 15972314, 18332249, 21457906, 12509858 1 0.00 570 13045 A G M237V - + MELAS Reported 31639449 0 0.00 345 13046 T C M237T - + LHON/MELAS overlap syndrome Reported 26894521, 31996177, 32652755, 21850008 0 0.00 126 13051 G A G239S + - LHON Cfrm [VUS*] 12736867, 27164671, 32652755 0 0.00 163 13063 G A V243I - + Adult-onset Encephalopathy / Ataxia Reported 17535832, 18332249, 18977334, 32652755 2 0.00 44 13084 A T S250C - + MELAS / Leigh Disease Reported [VUS] 12796552, 15972314, 21457906, 37038312, 33062892 0 0.00 418 13091 T C M252T - + MELAS+Migraine Reported 31996177 0 0.00 191 13094 T C V253A + + Ataxia+PEO / MELAS, LD, LHON, myoclonus, fatigue Cfrm [P] 18977334, 22577219, 22249460, 21364701, 29479304, 29506874, 29987491, 31226990, 28429146, 33763872, 34135385, 31665838, 37038312 1 0.00 263 13135 G A A267T + - Possible HCM susceptibility Reported 19473338, 29987491 579 0.95 485 13138 G A E268K + - Possible LHON modulator Reported 31743754 0 0.00 383 13204 G A V290I + - Peripheral neuropathy of T2 diabetes Reported 20454697, 21281460, 24456990 43 0.07 276 13271 T C L312P - + Exercise intolerance (EXIT) Reported 23065728, 18396045 1 0.00 361 13276 A G M314V + - MIDD+retinopathy Conflicting reports 28890306, 27422531 1662 2.72 518 13340 T C F335S + - LHON Reported 34177762 1 0.00 487 13345 G A A337T + - LHON Reported 0 0.00 419 13376 T C I347T + - MELAS w medial temporal lobe atrophy Reported 31689606, 31830610 1 0.00 519 13379 A G H348R + - LHON Cfrm [VUS*] 31669237, 34177762 0 0.00 153 13379 A C H348P + - LHON Reported [VUS] 17003408 0 0.00 246 13511 A T K392M - + Leigh-like syndrome Reported 17400793, 29987491, 27450679 0 0.00 45 13513 G A D393N - + Leigh Disease / MELAS / LHON-MELAS Overlap Syndrome / negative association w Carotid Atherosclerosis Cfrm [P] 9299505, 10589546, 10908920, 11198278, 12624137, 14520659, 14730434, 15576045, 16483543, 15972314, 17400793, 18674747, 18332249, 18402672, 18495510, 19054921, 18977334, 19370763, 19617458, 19268652, 20064630, 20408961, 21174521, 20972245, 21457906, 15382008, 24642831, 24667782, 23847141, 25192510, 21364701, 30095618, 28951770, 29228836, 29670672, 23874496, 29428506, 30128709, 30461153, 27450679, 27919073, 31669237, 31996177, 30950033, 32220313, 33746872, 34146515, 23010433, 33717984, 28429146, 34298071, 24931247, 34670906, 35778412, 37038312, 36975485, 26741492, 37737178, 21850008, 38465286 1 0.00 46 13514 A G D393G - + Leigh Disease / MELAS / Ca2+ downregulation Cfrm [LP] 11198278, 15521990, 15576045, 15972314, 18332249, 18402672, 18977334, 20064630, 20972245, 14684687, 21712854, 23847141, 30095618, 29987491, 26206091, 32504279, 37038312 0 0.00 47 13528 A G T398A + - LHON-like, LHON, MELAS Reported [LB] 11102991, 15972314, 22589247, 17940288, 29987491, 32652755, 19103152, 26735972, 28419775, 11938495, 19370763, 18477584, 32094358, 34599203, 31594508 74 0.12 564 13565 C T S410F + - Found in MELAS patient Reported 11938495, 19370763, 17940288, 18477584, 26735972, 27110715 75 0.12 116 13580 C G A415G - + Thyroid Cancer Reported 15608681 0 0.00 475 13590 G A L418L nr nr Possible protective factor for high altitude sickness Reported 23096691 3328 5.44 238 13637 A G Q434R + - Possible LHON factor Reported 7901141, 24319328, 29253894, 20301353 595 0.97 511 13702 C G R456G nr nr Possible LHON helper (one 14484 patient) Reported 11853713 17 0.03 48 13708 G A A458T + + LHON / Increased MS risk / higher freq in PD-ADS Conflicting reports 1550131, 1417830, 8163275, 8024249, 8053461, 8071952, 7770132, 7977345, 7814218, 8680405, 7635294, 7710535, 7599218, 7763260, 8978068, 8741876, 8755941, 8600429, 9150158, 9561330, 10737123, 1634041, 1732158, 1900003, 8213820, 1764087, 1463007, 18619472, 10520236, 10545708, 10424809, 10216058, 11339587, 11935318, 12150954, 12618962, 16050984, 15972314, 18270557, 21067478, 21288980, 21457906, 21694444, 16773565, 27498855, 28341142, 29987491, 30369864, 27119776, 32887465, 34573281, 36322731 4560 7.46 512 13712 C T A459V nr nr Possible LHON helper (one 11778 patient) Reported 11853713 10 0.02 49 13730 G A G465E - + LHON Reported [VUS] 7760326, 8593537, 8899049, 8213825, 15972314, 21457906, 20301353, 12638016 0 0.00 506 13759 G A A475T + - Possible LHON factor Reported 16331570 2110 3.45 117 13831 C A L499M - + Thyroid Cancer Cell Line Reported 15608681, 29987491 3 0.00 192 13849 A C N505H + - MELAS Reported - possibly secondary 18587274, 29987491 1 0.00 239 13967 C T T544M + - Possible LHON factor Reported 8600429, 7901141, 2567271, 29987491 184 0.30 456 14002 A G T556A + - High altitude pulmonary edema susceptibility Reported 31358833 143 0.23 307 14063 T C I576T + - Potentially functional variant cosegregating with LHON3635A Reported 23304069, 29987491 24 0.04 274 14091 A T K585N - + Developmental delay, seizure, hearing loss, diabetes Reported 23463613, 29987491 0 0.00 266 14163 C T A171T + - Possible deafness factor Conflicting reports 21838605, 21504270, 29987491 13 0.02 429 14179 A G Y165Y nr nr Recurrent pregnancy loss Reported 28696810 324 0.53 349 14258 G A P139L + - LHON synergistic combo 10680A + 12033G + 14258A also combo 14258A + 14582G Reported: individually neutral variants causing LHON in combination 29444077 31 0.05 430 14263 C T E137E nr nr Recurrent pregnancy loss Reported 28696810 6 0.01 125 14279 G A S132L + - LHON Reported 15922297, 29987491, 20301353, 32652755, 18806273, 19047048, 26735972 7 0.01 256 14319 T C N119D + - PD, early onset Reported 21457906, 18524835, 29987491 80 0.13 127 14325 T C N117D + - LHON Reported 12736867, 29987491, 20301353 57 0.09 95 14340 C T V112M + - SNHL Reported 15637703, 29987491 21 0.03 502 14342 C A G111V - + Possible association with sepsis Reported 33504965 0 0.00 549 14351 T C E108G - + SNHL + neurodevelopmental delay Reported 27155156 2 0.00 118 14430 A G W82R + - Thyroid Cancer / Leigh Syndrome Reported 15608681, 32432562 0 0.00 313 14439 G A P79S + - LS / Mitochondrial Respiratory Chain Disorder Reported 25356405, 29987491, 28429146 0 0.00 401 14441 T C Y78C nr nr Leigh-like phenotype Reported 28862604 0 0.00 50 14453 G A A74V - + MELAS / Leigh Disease Cfrm [LP] 11781695, 15972314, 21457906, 24642831, 21364701, 29987491, 32552696, 33644659, 32652755, 34933128 0 0.00 51 14459 G A A72V + + LDYT / Leigh Disease / dystonia / carotid atherosclerosis risk Cfrm [P] 8016139, 8680405, 7654063, 7760326, 8622678, 10072046, 10426138, 10894222, 12205655, 14520659, 15126312, 14735585, 14735584, 15972314, 18674747, 18402672, 19268652, 20064630, 21067478, 21457906, 22879922, 23847141, 21364701, 30095618, 28951770, 29670672, 23874496, 25834827, 29408632, 19714555, 21749722, 29987491, 30128709, 30461153, 29253894, 31221418, 32045392, 32220313, 20301353, 33717984, 28429146, 24398099, 37038312, 26741492, 37587338 3 0.00 524 14465 G A T70I - + LHON / various supected mitochondrial disease Reported 34264415, 32652755 0 0.00 53 14482 C G M64I + + LHON Cfrm [LP] 9443868, 15972314, 18402672, 20064630, 21887510, 29987491, 20301353, 8742999 0 0.00 52 14482 C A M64I + + LHON Cfrm [LP] 12112086, 12150954, 11931086, 16532388, 15972314, 18402672, 19319978, 21457906, 22879922, 29987491, 29253894, 17122117, 20301353 2 0.00 54 14484 T C M64V + + LHON Cfrm [P] 8470982, 1417830, 8071952, 7853025, 7770132, 7821467, 7977345, 7877803, 8680405, 7611298, 7604366, 7635294, 7603534, 7823072, 7735876, 7760326, 7599218, 7612556, 8533781, 8659531, 8659512, 8755941, 8931573, 9012411, 9339703, 9302261, 9412783, 9150158, 9177303, 9484365, 9852675, 1732158, 8213820, 1463007, 10072046, 10520236, 10426138, 10545708, 11001192, 11124301, 11754070, 11339587, 11523562, 11331900, 11504997, 11450909, 11938495, 12112086, 12205655, 12436196, 12464729, 12379308, 8941270, 12464728, 16120317, 12446713, 12749053, 12827453, 12724691, 14671420, 15126312, 15060117, 15635488, 15548492, 16120433, 15282189, 15272763, 16083845, 16380918, 15954041, 15883259, 16050984, 15483043, 16523671, 16532388, 15972314, 16829155, 16972023, 16806060, 17886296, 17479363, 17334960, 17406640, 17942074, 17292333, 19733221, 17403843, 17452034, 18344382, 18674747, 18214789, 18402672, 18320530, 18070226, 18440284, 18806273, 19710181, 19525327, 19936068, 19394449, 19370763, 19319978, 19268652, 19098324, 19255150, 19800080, 20074547, 20471050, 20064630, 20123042, 20599858, 20211598, 21067478, 20809775, 20976138, 19247386, 15720387, 21457906, 21788663, 21810891, 15467980, 21694444, 21397051, 21253496, 20943885, 15282179, 21685233, 22410442, 22194643, 15629832, 15629831, 21887510, 22258525, 23674761, 17894548, 25192510, 25053773, 12711217, 16564802, 27847334, 28040497, 26605371, 27746671, 27177320, 15342361, 28481993, 26404827, 28233183, 27787713, 27071925, 12807863, 27721048, 29336589, 29983856, 25909222, 30081212, 28392196, 23111160, 29428506, 31040363, 29133642, 28991104, 28994349, 29253894, 31619779, 30369864, 31619780, 29249004, 29387390, 11579587, 31817256, 29189152, 29980632, 31932089, 31776719, 32704028, 10976107, 33552719, 25338955, 33706792, 28314831, 17122117, 12518276, 32991883, 33159657, 32991388, 32220313, 33584522, 15033723, 14748908, 33911213, 34168607, 28455970, 27127184, 20301353, 11853713, 33360266, 34573281, 34122299, 34415266, 20628600, 24369379, 32105823, 28716668, 18235013, 21859767, 33477675, 29454364, 34673906, 34915201, 20491810, 35104579, 34670133, 8742999, 33101779, 35130313, 30881859, 23063736, 27803870, 30201499, 8582049, 28944608, 31605306, 30008192, 17899121, 32861874, 28761322, 21928272, 27582625, 30712826, 30822445, 31482278, 23665487, 32111141, 31566038, 34732400, 35723074, 12638016, 2018041, 36051150, 9561832, 24508359, 10631164, 35773337, 29996615, 27741086, 35567411, 33095398, 19047048, 22749828, 35623556, 35858578, 24398099, 36361994, 36565700, 36565701, 36737829, 36827238, 37038312, 37537557, 37587338, 11741983, 37878684, 37988592, 38346855 69 0.11 81 14487 T C M63V - + Dystonia / Leigh Disease / ataxia / ptosis / epilepsy Cfrm [P] 14595656, 14520668, 14684687, 15576045, 15625630, 16337195, 16044424, 15972314, 17535832, 18402672, 18977334, 19062322, 19103152, 20064630, 20019223, 20972245, 21457906, 21196529, 24126373, 23847141, 21364701, 30095618, 29987491, 30128709, 30461153, 28122886, 23813926, 33706792, 26530508, 32162843, 34223155, 23010433, 28429146, 30741831, 27338358, 35715829, 31665838, 37038312, 26741492 0 0.00 55 14495 A G L60S - + LHON Cfrm [LP] 11133798, 16380918, 15972314, 21457906, 21397051, 22879922, 29253894, 17122117, 20301353, 33779865 2 0.00 56 14498 T C Y59C + + LHON Reported 8854108, 9177303, 15972314, 20301353 0 0.00 214 14502 T C I58V + - LHON Reported - possibly synergistic 15896721, 18440284, 19732751, 20691156, 29987491, 27427386, 29387390, 32045392, 33858285, 24398099 210 0.34 416 14512 TA : frameshift - + EXIT w mild myopathy & hyperCKaemia Cfrm [LP] 32158465 0 0.00 386 14535 C CC frameshift nr nr DMDF Reported 23847141 1 0.00 520 14538 A G F46L + - LHON Reported 34177762 0 0.00 57 14568 C T G36S + - LHON Cfrm [LP] 9177303, 10447650, 12150954, 12324878, 15972314, 19319978, 20064630, 22879922, 29253894, 20301353 6 0.01 168 14577 T C I33V - + MIDM Reported 10909988 430 0.70 350 14582 A G V31A + - LHON synergistic combo 14258A + 14582G Reported: individually neutral variants causing LHON in combination 29444077 355 0.58 58 14596 A T I26M + - LHON with hereditary spastic dystonia Reported [VUS] 8644732, 15972314, 17123466, 29987491, 20301353 0 0.00 404 14597 A G I26T - + LHON / LS Cfrm [LP] 31669237, 34045482 0 0.00 568 14598 T C I26V + - PD / LS Reported [VUS] 7 0.01 164 14600 G A P25L + + Leigh Disease w/optic atrophy / ASD mouse model Reported 17535832, 18977334, 23129651, 33536343, 37038312 0 0.00 203 14668 C T M2M + - Depressive Disorder associated Reported 19290059 2403 3.93 216 14674 T C + - Reversible COX deficiency myopathy Cfrm [LP] 19720722, 21194154, 8155739, 16150714, 29253894, 31965079, 32970680, 33128823, 34732400, 34806237, 33832841, 21931168, 31333056, 23814040, 25407320 10 0.02 239 14674 T G + - Reversible COX deficiency myopathy Reported 21194154, 23814040, 25407320 0 0.00 190 14680 C A - + Mitochondrial encephalomyopathy Reported 17715279 0 0.00 327 14685 G A - + Cataracts w spastic paraparesis & ataxia Reported 23334599 0 0.00 143 14687 A G + - Mito myopathy w respiratory failure; intellectual disability Reported 12760436, 16773565, 29340697, 31965079, 28429146 352 0.58 184 14692 A G + - LHON helper / Maternally inherited diabetes & deafness /tic disorder Reported 8728098, 27544295, 27519417, 33289513, 32169613, 34991096 25 0.04 142 14693 A G + + MELAS / LHON / DEAF / hypertension helper Reported 14571459, 16364244, 16955413, 17434142, 19818876, 18708405, 23563965, 19376484, 16331560, 16414144, 16947981, 29387390, 31965079, 22538251, 33552719, 34053002, 33840063, 34120304 352 0.58 145 14696 A G - + Progressive Encephalopathy Reported 15286228, 31965079 84 0.14 465 14701 C T + - Reversible infantile respiratory chain deficiency (RIRCD) Reported 34400372 0 0.00 95 14709 T C + + MM+DMDF / Encephalomyopathy / Dementia+diabetes+ophthalmoplegia Cfrm [LP] 7726154, 7726155, 9353617, 10392369, 10220138, 15048886, 15607216, 11938495, 12393175, 15126302, 15880407, 15983868, 17886296, 17653689, 20045353, 20064630, 22577219, 22249460, 25652200, 29253894, 19199242, 31965079, 32313153, 26469001, 32948797, 11437868, 22538251, 23301511 1 0.00 155 14710 G A - + Encephalomyopathy + Retinopathy Cfrm [VUS*] 11506394, 15670724, 20064630, 19718780, 23847141, 31965079 0 0.00 306 14721 G A - + Isolated complex I deficiency Reported 24667782 0 0.00 234 14723 T C - + CPEO + Myopathy Reported 20810132, 22258525 0 0.00 141 14724 G A - + Mito Leukoencephalopathy Reported 17266923, 19718780, 23847141 0 0.00 317 14728 T C - + Late-onset mitochondrial encephalomyopathy Reported 17897888 0 0.00 144 14739 G A - + EXIT Reported 17056256, 19718780, 31965079 1 0.00 474 14783 T C L13L nr nr Possible role in high altitude sickness Reported 33420243 12413 20.30 59 14787 TTAA : frameshift - + PD / MELAS Cfrm [LP] 9894888 0 0.00 142 14831 G A A29T + - LHON Reported 12150954, 20301353 115 0.19 215 14841 A G N32S - + LHON helper mut. Reported 19555656 21 0.03 60 14846 G A G34S - + EXIT / possibly antiatherogenic, poss. myocardial infarction association Reported [VUS] 10502593, 11506394, 11782982, 14520667, 21457906, 28951770, 29670672, 23874496, 25834827 0 0.00 61 14849 T C S35P - + EXIT / Septo-Optic Dysplasia Cfrm [VUS*] 11891837, 20544923, 21457906 0 0.00 289 14864 T C C40R - + MELAS Reported 22638077 3 0.00 373 14894 T C F50L nr nr LHON Reported 10663786 8 0.01 538 14970 A G Y75C nr nr LHON Reported 7 0.01 235 15024 G A C93Y + - Possible DEAF modifier Reported 20153673, 37562966 37 0.06 204 15043 G A G99G + - MDD-associated / possible factor in high altitude sickness Reported 19290059, 16773565, 33420243 13873 22.69 62 15059 G A G105Term - + MM / carotid atherosclerosis risk / essential hypertension Reported 9894887, 10502593, 28951770, 29670672, 23395464, 23874496, 23158979 0 0.00 480 15060 G A G105E + - Mitochondrial Respiratory Chain Disorder Reported 28027978 0 0.00 200 15077 G A E111K + - DEAF / LHON / helper mutation for maternally inherited hypertension Reported 17637808, 22241583, 31817256, 34346491 133 0.22 63 15084 G A W113Term - + EXIT Reported 10502593, 14520667 0 0.00 288 15092 G A G116S - + MELAS Reported 25125337 0 0.00 64 15150 G A W135Term - + EXIT Cfrm [LP] 11464242 0 0.00 393 15153 G A G136D - + Suspected mito disease Reported 27450679 6 0.01 394 15158 A G M138V - + Suspected mito disease Reported 27450679 0 0.00 72 15168 G A W141Term - + EXIT Reported 10502593, 14520667 0 0.00 291 15170 G A G142Term - + EXIT Reported 14506725 0 0.00 65 15197 T C S151P - + EXIT Reported [VUS] 11464242, 21457906 0 0.00 503 15200 G T A152S - + Possible factor in sepsis Reported 33504965 0 0.00 292 15209 T C Y155H + - Prader-Willi syndrome Reported 24771578 7 0.01 486 15218 A G T158A + - Possible LHON modulator Reported 31743754 1097 1.79 398 15234 G A W163Term nr nr Leigh stroke-like leukodystrophy Reported 23847141 0 0.00 513 15236 A G I164V nr nr Possible LHON helper (one 11778 patient) Reported 11853713 870 1.42 308 15237 T C I164T + - Potentially functional variant cosegregating with LHON3635A Reported 23304069 7 0.01 66 15242 G A G166Term - + Mitochondrial Encephalomyopathy Cfrm [LP] 9643969, 11047755 0 0.00 67 15243 G A G166E - + HCM Reported 10453733, 20064630 0 0.00 481 15246 G A G167D - + Mitochondrial Respiratory Chain Disorder Reported 28027978 0 0.00 384 15256 A G V170V + - Peripheral neuropathy of T2 diabetes Reported 24456990 4 0.01 68 15257 G A D171N + - LHON Conflicting reports 8163275, 8053461, 8076942, 7770132, 7977345, 7814218, 8680405, 7635294, 7733466, 7710535, 7760326, 7599218, 8755941, 8899049, 8600429, 9302261, 9150158, 9561330, 9719386, 1634041, 1732158, 8240104, 8417984, 7901141, 8213820, 1764087, 8321540, 1463007, 10520236, 10545708, 10424809, 11464242, 11339587, 11935318, 12150954, 15060117, 16050984, 18647627, 18931934, 21067478, 21457906, 12483296, 23563965, 16773565, 30369864, 32887465 934 1.53 217 15287 T C F181L - + Possible DEAF helper mut. Reported; hg I6a & H10c marker 17999439, 32887465 108 0.18 473 15301 G A L185L nr nr Possible factor in high altitude sickness, LHON Reported 33420243, 16331570 16588 27.13 514 15324 C G A193G nr nr Possible LHON helper (one 11778 patient) Reported 11853713 0 0.00 504 15350 G A E202K - + Possible sepsis factor Reported 33504965 0 0.00 237 15395 A G K217E + - Possible LHON factor Reported 19022198 2 0.00 476 15436 C A L230L nr nr Possible role in high altitude sickness Reported 23096691 3 0.00 283 15453 T C L236P + - Isolated complex III deficiency Reported 24667782 11 0.02 93 15497 G A G251S + - EXIT / Obesity Reported 12905068, 15126279, 15052619, 21457906, 17015183 338 0.55 69 15498 G A G251D - + DEAF / Infantile histiocytoid cardiomyopathy Reported 10960495, 15126279, 20064630, 20111055, 18848389, 21457906, 29253894, 32652755 15 0.02 70 15498 24bp_deletion GDPDNYTL-del - + EXIT Reported 10502593, 11506394 0 0.00 79 15579 A G Y278C - + Multisystem Disorder, EXIT Cfrm [VUS*] 11601507, 21457906, 23376095, 23418307, 32652755 0 0.00 71 15615 G A G290D - + EXIT / Antimycin resistance Reported 8910895, 8988236, 21457906, 32652755 0 0.00 337 15620 C A L292I - + Leigh Syndrome helper mut Reported 24062162 0 0.00 290 15635 T C S297P + - Polyvisceral failure Reported 19563916 2 0.00 293 15649 18bp_deletion ILAMIP-del - + Multisystem Disorder, EXIT Reported 24863938 0 0.00 232 15662 A G I306V + + Complex mitochondriopathy-associated Reported 10894993 203 0.33 154 15674 T C S310P + - LHON Reported 17003408, 21196529 166 0.27 231 15693 T C M316T + - Possibly LVNC cardiomyopathy-associated Reported 20211276 764 1.25 135 15699 G C R318P - + Muscle Weakness SNHL and Migraine Reported 16008558, 23847141 0 0.00 73 15723 G A W326Term - + EXIT Reported 10502593 0 0.00 223 15761 G A G339Term + MM Reported 12686403 0 0.00 74 15762 G A G339E - + MM Reported 9818877 0 0.00 174 15773 G A V343M + - LHON Reported - possibly synergistic 18216301 74 0.12 316 15784 T C P346P + - POAG - potential for association Reported 24694284, 27217714, 24102601 2012 3.29 180 15800 C T Q352Term - + EXIT / Myopathy Reported 11731284, 18977334 0 0.00 372 15804 T C V353A + - Fibromyalgia Reported 26566881, 32652755 38 0.06 75 15812 G A V356M + - LHON Reported / Secondary 7770132, 7977345, 8680405, 7635294, 7599218, 8899049, 8600429, 9150158, 9561330, 1634041, 1764087, 1463007, 10894993, 15060117, 16050984, 7901141, 21067478, 21457906, 27217714, 30369864, 32887465 513 0.84 356 15894 G A + - Gout Reported 29976239, 31965079 35 0.06 443 15897 G A + - Maternally inherited diabetes (MID) Reported 31965079, 32083134 0 0.00 432 15901 A G nr nr Hearing loss patient Reported 32169613 10 0.02 433 15902 A G nr nr Hearing loss patient Reported 32169613 10 0.02 472 15904 C T nr nr Protective factor for stroke risk (hg V) Reported 37793469 999 1.63 182 15908 T C + - DEAF helper mutation Reported 16955413, 19818876, 31965079, 22538251 197 0.32 361 15909 A G + - Hypertension Reported 29129694, 27544295, 31965079 6 0.01 409 15910 C T + - Tic disorder patient / hearing loss patient / coronary heart disease Reported 33289513, 32169613, 31842766 31 0.05 96 15915 G A - + Encephalomyopathy Reported 8769114, 9367299, 31965079, 32970680 1 0.00 97 15923 A G + + LIMM / MERRF / mito disease Cfrm [LP] 1379415, 1645537, 8511015, 22638997, 30236074 0 0.00 98 15924 A G nr nr LIMM Reported 1379415, 2043137, 1645537, 10680807, 16773565, 27498855, 31965079, 37845428 2140 3.50 435 15926 C T nr nr Hearing loss patient Reported 23847141, 32169613 9 0.01 126 15927 G A + - LHON / Multiple Sclerosis / DEAF1555 increased penetrance / CHD Reported 9113500, 10680807, 8899049, 18386806, 18820594, 19818876, 23563965, 23736300, 26782414, 24470521, 29225014, 30541130, 31965079, 30854964, 18930888, 22538251, 33552719, 34053002, 34120304, 34991096, 37845428 596 0.97 127 15928 G A + + Multiple Sclerosis / idiopathic repeat miscarriage / AD protection Reported 9113500, 10680807, 8899049, 23563965, 10377009, 16773565, 31965079 3195 5.23 473 15930 G A + - Possible DEAF risk factor Reported 32400865 1305 2.13 335 15933 G A + - Suspected mito disease Reported 28187756 0 0.00 206 15942 T C + - Possibly LVNC-associated Reported 20211276, 31965079 441 0.72 264 15944 T : + - MM Conflicting reports 9832049, 18178636, 31965079 855 1.40 410 15948 A G nr nr Reported in tic disorder patient Reported 33289513 5 0.01 188 15950 G A + + LHON / LHON-MS / dopaminergic nerve cell death (PD) / tic disorder Reported 10369889, 31965079, 33289513, 35808913 4 0.01 131 15951 A G + - LHON / LHON modulator Conflicting reports 16624503, 19022198, 23563965, 26000946, 21983721, 29387390, 31965079, 33552719, 34053002, 34120304 407 0.67 411 15952 C T nr nr Reported in tic disorder patient Reported 33289513 5 0.01 390 15958 A T - + Severe myopathy / EXIT Reported 32419253, 27816331 0 0.00 189 15965 A G + - Dopaminergic nerve cell death (PD) Reported 10369889, 31965079 12 0.02 235 15967 G A - + MERRF-like disease Reported 19273760, 19718780, 31965079 0 0.00 187 15975 C T - + Ataxia+RP+deafness Reported 19223931 0 0.00 441 15986 G GG LHON modulator Reported 33552719, 31743754, 32991883 0 0.00 100 15990 C T - + MM / PEO Cfrm [LP] 7689388, 8190311, 9421512, 19718780, 32305257 0 0.00 394 15992 A T + - Exercise-induced muscle swelling and fatigue Reported 32802947 1 0.00 412 15992 A G nr nr Maternally inherited hypertension / tic disorder patient / hearing loss patient Reported 33289513, 32169613, 34346491 5 0.01 117 15995 G A - + Mitochondrial cytopathy Reported 12406974, 12400067, 31965079 0 0.00 437 15997 T C nr nr Hearing loss patient Reported 32169613 0 0.00 332 15998 A T - + Mitochondrial myopathy Reported 27536729 0 0.00 191 16002 T C - + Mitochondrial cytopathy Reported 11196116, 31965079 0 0.00 333 16015 T C - + Mitochondrial myopathy Reported 27536729 0 0.00 305 16018 T TTCTCTGTTCTTTCAT - + Dilated cardiomyopathy (15 bp dup), alternate notation Reported 22954281, 31965079 0 0.00 334 16021 CT : - + Mitochondrial myopathy Reported 27536729 0 0.00 301 16023 G A - + Migraine +pigmentary retinopathy +deafness +leukariosis Reported 23696415, 30876822 0 0.00 302 16032 T TTCTCTGTTCTTTCAT - + Dilated cardiomyopathy (15 bp dup), alternate notation Reported 22954281 2 0.00 561 16051 A G noncoding nr nr Possible susceptibility to bullous pemphigoid Reported 31824475 1571 2.57 302 16081 A G noncoding - + Cyclic Vomiting Syndrome Reported 15368478 2 0.00 301 16093 T C noncoding - + Cyclic Vomiting Syndrome / Increased risk of breast cancer Reported 15368478, 31143779, 37798736 3535 5.78 300 16129 G A noncoding - + Cyclic Vomiting Syndrome with Migraine Reported 15368478 7880 12.89 562 16162 A G noncoding nr nr Possible susceptibility to bullous pemphigoid Reported 31824475 1112 1.82 299 16176 C T noncoding - + Cyclic Vomiting Syndrome with Migraine Reported 15368478 486 0.79 296 16183 A C noncoding nr + Melanoma patients Reported 22174736 7770 12.71 505 16188 C CC noncoding - + Possible association with sepsis Reported 33504965 25 0.04 76 16189 T C noncoding + - Diabetes / Cardiomyopathy /cancer risk / mtDNA copy nbr / Metabolic Syndrome / Melanoma patients Reported 9820026, 9498630, 11418155, 12045211, 12421439, 12872259, 15880407, 15972579, 16892079, 17066297, 17390150, 21146361, 22281886, 19397801, 23702607, 22174736, 16271646, 16773565, 16142453, 18679013, 12147150, 11472454, 16784794, 21298061, 17535991, 16331560, 15965046, 11798951, 17032725, 16414144, 18251004, 29182103, 29765483, 23465694 14995 24.53 297 16192 C T noncoding nr nr Melanoma patients Reported 22174736 2669 4.37 353 16217 T C noncoding + - Endometriosis Reported 29124462 4240 6.94 563 16263 T C noncoding nr nr Possible susceptibility to bullous pemphigoid Reported 31824475 579 0.95 298 16270 C T noncoding nr nr Melanoma patients Reported 22174736 3033 4.96 573 16298 T C noncoding nr nr Protective factor for stroke risk (hg V) Reported 37793469 4151 6.79 209 16300 A G noncoding + - BD-associated Reported 19290059, 20837494 311 0.51 340 16318 A C noncoding nr nr Non-alcoholic steatohepatitis - potential for association Reported 108 0.18 317 16390 G A noncoding + - POAG - potential for association Reported 24694284, 27217714, 24102601 3297 5.39 257 16519 T T noncoding + - Cyclic Vomiting Syndrome with Migraine /metastasis Reported 19368653, 19220304, 22174736, 25332060 23064 37.73