id pos ref alt aachange homoplasmy heteroplasmy disease status pubmed_ids gbcnt gbfreq 205 114 C T noncoding + - BD-associated Reported 19290059 253 0.43 355 146 T C noncoding + - Absence of Endometriosis Reported 29124462 11290 19.01 166 150 C T noncoding + + Longevity / Cervical Carcinoma / HPV infection risk Conflicting reports 11404057, 12538859, 12606714, 15483642, 16857160, 21319252, 21262335, 21385627, 29467576 7704 12.97 434 185 G A noncoding + - Low VO2max response Reported 33064405 2382 4.01 206 195 T C noncoding + + BD-associated / melanoma pts Reported 19290059, 22174736, 27217714 11211 18.88 435 228 G A noncoding + - Low VO2max response Reported 33064405 1623 2.73 436 295 C T noncoding + - Low VO2max response Reported 33064405, 33420243 2873 4.84 294 309 C CCC noncoding nr nr Higher in melanoma patient group Reported 22174736, 22174736 94 0.16 218 309 C CC noncoding nr nr AD-weakly associated Reported 19703591 615 1.04 447 310 T C noncoding Possible protective factor for normal tension glaucoma Reported 30312593 23892 40.23 295 315 C CC noncoding nr nr Melanoma patients Reported 22174736 18151 30.56 517 351 A G noncoding nr nr Patient with CPEO Reported 32504279 0 0.00 437 462 C T noncoding + - Low VO2max response Reported 33064405, 33420243 2177 3.67 438 489 T C noncoding + - Low VO2max response Reported 33064405 14914 25.11 354 499 G A noncoding + - Endometriosis / possible protective factor for high altitude sicknes Reported 29124462, 23096691 2282 3.84 363 547 A T noncoding + - Tubulointerstitial kidney disease Reported 28267784 0 0.00 356 573 C CCC noncoding + - Absence of Endometriosis Reported 29124462, 29124462 327 0.55 477 576 A G noncoding MT-TF precursor nr nr Hearing loss patient Reported 32169613 3 0.01 416 576 A G nr nr Hearing loss patient Reported 32169613 3 0.01 378 578 T C nr + Unspecified patient from clinical lab / MS Reported 27119776, 31965079 0 0.00 109 582 T C - + Mitochondrial myopathy Reported 14659412, 17878308, 19718780 0 0.00 1 583 G A - + MELAS / MM & EXIT Cfrm [VUS*] 9771776, 16806928, 17878308, 19718780, 31965079 0 0.00 233 586 G A - + Extrapyramidal disorder with akinesia-rigidity, psychosis and SNHL Reported 19718780, 21060018, 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 22039503, 22110754, 28579530, 31965079, 33552719, 34053002, 34120304 279 0.47 269 602 C T - + Axial myopathy with encephalopathy Reported 21424749, 22781547 0 0.00 2 606 A G + + Myoglobinuria Unclear 9066365, 10611123, 14733964, 17878308, 31965079 22 0.04 3 608 A G + - Tubulo-interstitial nephritis Reported 11231339, 17878308, 22781547 0 0.00 113 611 G A nr + MERRF Reported 15184630, 17878308, 19718780, 20142618 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 4 618 T C - + MM Reported 9636664, 17878308, 31965079 0 0.00 278 618 T G - + Ptosis CPEO MM & EXIT Reported 21882289 0 0.00 129 622 G A - + EXIT & Deafness Reported 16769874, 17878308, 19718780 0 0.00 274 625 G A - + SNHL & Epilepsy Reported 21914246 0 0.00 319 628 C T - + DEAF Reported 22979943, 31965079 3 0.01 169 636 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 0.00 340 653 G : - + Atherosclerosis risk Reported 28951770, 29670672 0 0.00 352 653 G GG - + Atherosclerosis study Reported 29670672 0 0.00 267 663 A G + - Coronary atherosclerosis risk Reported 21099167 1731 2.91 178 669 T C + - DEAF Reported 17637808, 18851951, 19371214, 20353758 108 0.18 197 721 T C + - Possibly LVNC-associated Reported 20211276 137 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 1026 1.73 444 773 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, 16782057, 17489842, 18790089, 18611982, 19144107, 19371214, 20722495, 20353758, 20100600, 21495045, 27230773, 27654872, 30523288 1578 2.66 222 839 A G + - DEAF-associated Reported 20100600 7 0.01 199 850 T C + - Possibly LVNC-associated Reported 20211276 122 0.21 183 856 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 0.13 200 921 T C + - Possibly LVNC-associated Reported 20211276, 27217714 429 0.72 445 955 A C - + Possible association with sepsis Reported 33504965 3 0.01 211 960 C : + - Possibly DEAF-associated Reported 18851951, 18851951 28 0.05 212 960 C CC + - Possibly DEAF-associated Reported 12394346, 18851951, 19371214, 27654872, 30523288 384 0.65 107 961 T C + - DEAF, possibly LVNC-associated Unclear 7550368, 15841390, 16528519, 17489842, 18325329, 19371214, 20100600, 27654872, 29336589 542 0.91 213 961 T G + - Possibly DEAF-associated Unclear 15286157, 18851951, 19705751, 23013294, 23969527, 27654872, 30523288 215 0.36 104 961 T CC + + DEAF / AD-associated / intellectual disability Unclear 8104867, 7550368, 10326749, 10220138, 16120283, 12037390, 12394346, 14581685, 14681830, 15917167, 17489842, 18790089, 18851951, 19144107, 19703591, 19705751, 20100600, 21495045, 24092330, 27654872, 30053855 0 0.00 110 965 C CC + - DEAF Unclear 10326749, 12037390, 12394346, 14581685, 14681830, 15126302, 14699607, 15841390, 16380089, 19705751, 20100600, 30523288 1 0.00 209 988 G A nr nr Possible DEAF risk factor Reported 20353758 47 0.08 170 990 T C + - DEAF Reported 18790089 36 0.06 120 1005 T C + - DEAF Unclear 15841390, 16528519, 17489842, 19705751, 27498855 263 0.44 223 1027 A G + - DEAF-associated Reported 20100600 17 0.03 5 1095 T C + + SNHL Unclear 11079536, 11313749, 15555598, 15637703, 15841390, 16947981, 16528519, 16875663, 17489842, 18325329, 19144107, 19705751, 20100600, 21495045, 27654872, 30523288 65 0.11 121 1116 A G + - DEAF Reported 15841390, 17489842 11 0.02 397 1119 T C nr nr Possible role in high altitude sickness Reported 23096691 313 0.53 214 1180 T G + - Possibly DEAF-associated Reported 15286157, 24092330 0 0.00 225 1192 C T + - DEAF-associated Reported 20100600 15 0.03 224 1192 C A + - DEAF-associated Reported 20100600, 27498855 9 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 0.07 227 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 194 0.33 271 1391 T C + + found in 1 HCM patient Reported 16266762 125 0.21 345 1420 T G + + DEAF Reported 0 0.00 201 1438 A A + - SZ-associated Reported 16947981, 19290059, 27217714 2895 4.87 229 1452 T C + - DEAF-associated Reported 20100600 52 0.09 210 1453 A G nr nr Possible DEAF risk factor Reported 20353758 108 0.18 346 1492 A C - + DEAF Reported 0 0.00 103 1494 C T + - DEAF Cfrm [LP] 15722487, 17698030, 14681830, 15126302, 16947981, 16826519, 16380089, 16458854, 16890911, 17434445, 17698299, 17489842, 18308926, 18325329, 19144107, 19687236, 20209292, 20860455, 20100600, 21495045, 21047563, 24092330, 25838379, 25837512, 27654872, 28901477, 29707576, 29253894, 30523288, 30693673, 34467602 4 0.01 153 1517 A C - + DEAF Reported 18325329 0 0.00 179 1537 C T + - DEAF; intellectual disability Reported 17637808 7 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, 8414970, 7689389, 7550368, 7649544, 10577941, 8800928, 8797567, 8973709, 8687424, 9315872, 9111378, 9040738, 9164619, 9391883, 9490575, 9831149, 9777488, 9887373, 9779807, 12370316, 12011058, 10326749, 8817331, 12955586, 12054632, 10915767, 11230176, 14755216, 16375862, 16168391, 16152638, 16406239, 12920080, 9915970, 10414625, 10521300, 10220138, 9950117, 10424809, 10788333, 10905659, 10760311, 10854117, 10739773, 10633132, 11215518, 11388757, 11174059, 12031626, 12372057, 12394346, 11857751, 12711217, 12655418, 15179218, 14699607, 15286157, 15126302, 15542390, 15708009, 15841390, 16132471, 15292920, 16947981, 16826519, 16528519, 16513084, 16631122, 16458854, 16574076, 16777068, 16955413, 18154640, 17637808, 17341440, 17452034, 17489842, 17723226, 18674747, 18308926, 18325329, 18386806, 18215147, 17999439, 18820594, 18282333, 19026397, 18790089, 18775412, 19082356, 18930888, 19144107, 19371214, 19370763, 19687236, 19376484, 19705751, 20860455, 19818876, 20353758, 20100600, 20064630, 20123042, 20111055, 21495045, 21621438, 21725156, 21456129, 21162657, 21838605, 21504270, 21047563, 22567359, 22475488, 22341444, 23395464, 23774020, 23847141, 25313049, 24092330, 25838379, 25837512, 25834827, 26404827, 26361786, 27654872, 29182774, 27308839, 28049726, 28951770, 28320335, 29348176, 29707576, 29336589, 29253894, 30369864, 30272361, 29670672, 29340697, 30523288, 30693673, 31540444, 32991883, 32867169, 34467602, 23301511, 34732400, 35614445, 36292680 84 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 0.02 396 1612 C T + - LVNC (left ventricular noncompaction) Reported (VUS) 33082984 0 0.00 337 1616 A G nr nr MELAS Reported 28893805 1 0.00 10 1624 C T + - Leigh Syndrome Reported 11799391, 17886296, 18400783, 25652200, 31965079, 32970680 0 0.00 244 1630 A G - + MNGIE-like disease / MELAS Cfrm [VUS*] 19252805, 21540128, 23463613, 29428506, 30815362, 31181796, 30709774, 30809469, 31965079 0 0.00 457 1640 A G + + MELAS Reported 23301511 2 0.00 11 1642 G A - + MELAS Reported 8797538, 9443499 0 0.00 284 1643 A G + + Late infantile onset fatal mito disease Reported 22638997, 31965079 1 0.00 12 1644 G T - + Adult Leigh Syndrome Reported 9270602 0 0.00 273 1644 G A - + Leigh Syndrome / HCM / MELAS Cfrm [LP] 15320572, 18314141, 23847141, 24691472, 31965079, 34298071 0 0.00 125 1659 T C - + Movement Disorder Reported 31965079, 15465092 0 0.00 393 1661 A G + - Charcot Marie Tooth (CMT) Reported 28027978, 32715519 1 0.00 453 2156 A AA - + Possible association with sepsis Reported 7723627, 16895436, 16714301, 22333566, 29343773, 33504965 205 0.35 375 2158 T C nr nr Reduced risk PD Reported 23645593, 30369864 245 0.41 371 2336 T C + - Hypertrophic cardiomyopathy Reported 24367055, 30196098 0 0.00 202 2352 T C + - Possibly LVNC-associated Reported 20211276, 27217714, 27498855 1425 2.40 203 2361 G A + - Possibly LVNC-associated Reported 20211276 143 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 13140 22.13 204 2755 A G + - Possibly LVNC-associated Reported 20211276, 27217714, 32887465 267 0.45 449 2806 T A - + Possible association with sepsis Reported 33504965 0 0.00 13 2835 C T - + Rett Syndrome Reported 9436797, 10457616 69 0.12 266 3010 G A + - Cyclic Vomiting Syndrome with Migraine / high altitude adaptation Reported 16947981, 16773565, 19368653, 19220304, 23096691, 25332060, 27217714, 32991883, 33420243 9068 15.27 450 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, 33504965 9 0.02 452 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 0.03 163 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, 21364701, 22781753, 24667782, 25313049, 31965079 0 0.00 18 3243 A T - + MM / MELAS / SNHL / CPEO Cfrm [LP] 9168904, 12729737, 18203188, 15477393, 20471262, 20550934, 23220830, 25504047, 30210801, 31965079, 32273537, 33924034 0 0.00 16 3243 A G - + MELAS / Leigh Syndrome / DMDF / MIDD / SNHL / CPEO / MM / FSGS / ASD / Cardiac+multi-organ dysfunction Cfrm [P] 2102678, 2268345, 1670860, 1922812, 1684568, 1674297, 1755869, 1673015, 1715668, 1713858, 1899574, 1370535, 1405464, 1433821, 1732728, 1434521, 1463007, 1434520, 1315123, 1442494, 1436526, 1539604, 1378759, 1284550, 1584755, 1586140, 1549215, 1606473, 8363469, 8356881, 8363452, 8477849, 7680123, 8326463, 8442706, 8129854, 7689068, 8482977, 8138807, 8487499, 8518790, 7684581, 8373389, 8392410, 8255441, 8517674, 8122891, 7965431, 8201329, 8042948, 8122892, 8151636, 7912129, 8154867, 7910800, 8063037, 7743754, 7732778, 7599217, 7600089, 7603515, 7473662, 7639309, 7599199, 7625445, 7603513, 7735877, 7714102, 8773598, 8723687, 8723071, 9537417, 8728705, 8559168, 8829651, 8751860, 8777986, 8712800, 8544626, 8809026, 9341162, 9386859, 9146825, 9455929, 9266470, 9196933, 9365365, 9225833, 9353631, 9262546, 9219161, 9024220, 9105898, 9212310, 9149827, 9073028, 9455930, 9353617, 9222976, 9772417, 9323566, 9175737, 2903249, 9761239, 9748738, 9541428, 9633820, 9541116, 9625453, 9437322, 9384601, 9628277, 9780603, 9798744, 9828917, 9778452, 9741403, 9822126, 9683591, 9619647, 9830283, 9884447, 9831303, 9744809, 9708761, 9598702, 9845835, 10025431, 9889270, 10407850, 10399093, 10220138, 10514449, 15238271, 10636741, 10100521, 10890789, 10525672, 10424809, 10452273, 10462141, 10366077, 10862082, 10939569, 10611124, 11145497, 11074292, 10858457, 10699169, 10699170, 10854117, 10699115, 10665488, 10611123, 10633132, 11215518, 11044204, 10645055, 11241464, 11335700, 11085913, 11708999, 11175302, 11742413, 16120283, 11488279, 11331900, 11733107, 11507652, 11260383, 11393411, 11700163, 15073091, 11472454, 11379873, 11271374, 11889254, 11874423, 16120315, 12207817, 12391367, 12089377, 12150714, 12080997, 16120317, 12609508, 14648149, 12590018, 12612863, 12574954, 12874464, 14571459, 12627331, 14673589, 15258237, 15032978, 14648337, 15220216, 15180810, 15111665, 14748908, 15056184, 15126302, 15660201, 15477393, 15286228, 15372523, 15164188, 15466086, 15328490, 15880407, 15752543, 15870203, 15893315, 16050991, 16290150, 7565871, 15292920, 15737668, 15585516, 16483543, 16815877, 16490799, 16476929, 16476925, 16337222, 16326995, 16717204, 16384802, 16876129, 17030784, 16446307, 17236134, 17886296, 17540956, 17653689, 16950816, 17664998, 17541738, 17300999, 17823937, 17637808, 17210904, 17403843, 17336924, 17587249, 17223431, 17323145, 18176143, 18674747, 18753147, 18252214, 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, 19199242, 20471050, 20973690, 20194621, 20064630, 19941338, 20123042, 20610441, 21067488, 20799154, 20111055, 20164463, 20552288, 20812177, 19864902, 20972245, 21473984, 21427669, 21724600, 21496500, 21120938, 21364701, 22567359, 22411789, 22080835, 22270878, 21263444, 22115768, 23272214, 22921075, 22306605, 21944974, 21935892, 22577219, 22249460, 21443929, 22781547, 22033022, 22538251, 23230016, 23257519, 24003133, 23838278, 23390135, 23297368, 23376095, 23288206, 23806424, 12729737, 14639582, 12838523, 14722523, 12101407, 17656376, 10716261, 18391161, 8676159, 17172609, 17172605, 18241671, 18306232, 24642831, 24667782, 25192935, 25192510, 24864317, 25313049, 24375076, 25451262, 24931247, 25652200, 26404827, 26722549, 26469001, 26112752, 27919073, 26897329, 27322764, 27402860, 27923514, 27986282, 28054208, 29161289, 29079678, 28140742, 28916769, 27450679, 28847973, 28320335, 28668821, 28951556, 28716227, 29700325, 29556788, 29536171, 29376197, 30095618, 29318513, 29253894, 30369864, 29983856, 29735722, 29560378, 29343702, 29480536, 29139113, 29928977, 30146801, 29266179, 30089816, 29980632, 28754700, 29868447, 30133155, 29390138, 31083203, 30461153, 30801962, 30058726, 31641105, 31253706, 31867706, 31143779, 31347509, 31630688, 29756269, 30406307, 30962477, 31665838, 29666206, 31965079, 31682520, 32786181, 32881886, 32167396, 32970680, 32313153, 31722256, 31726383, 33257573, 32948797, 32169613, 32722320, 32220313, 32085658, 32504279, 32554818, 33763872, 32696575, 34146515, 32439810, 33811417, 34118021, 34467602, 34298071, 34829316, 33717984, 34482029, 34737295, 34599203, 33438095, 33541179, 36053827, 15701731, 36010669, 35778412, 36130631, 33484420, 36611807, 36744444, 36928678 10 0.02 123 3244 G A - + MELAS Reported 15870203, 19460299, 24667782, 29161289 6 0.01 20 3249 G A - + KSS Reported 11448301, 15477393, 29161289 0 0.00 21 3250 T C - + MM / CPEO / cardiomyopathy Reported 1514779, 9003864, 12729737, 12160969, 15477393, 15466077, 15870203, 21364701, 14639582, 29161289, 28716227, 31965079, 33259687 1 0.00 22 3251 A G - + MM / MELAS with chorea-ballism Reported 8265770, 8786060, 29161289, 30837005, 31965079 0 0.00 288 3252 A T - + EXIT Reported 23463613, 31965079 0 0.00 23 3252 A G - + MELAS Reported 8111377, 7603510, 15477393, 25192510, 31965079 0 0.00 336 3253 T C + - Maternally inherited hypertension Reported 27544295, 28679533, 29161289, 34599203 7 0.01 172 3254 C A - + Gestational Diabetes (GDM) Reported 10704697 32 0.05 124 3254 C T + - CPEO / poss. hypertension factor Reported 15477393, 15870203, 19778529, 20064630, 29161289 17 0.03 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, 10953207, 15477393, 16483543, 16384802, 18165269, 19718780, 20064630, 19941338, 23056349, 23376095, 23395464, 23874496, 12972383, 28951770, 29670672, 31965079, 32167396 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] 1677065, 8210299, 8132749, 7599217, 8941275, 9744809, 15477393, 16141288, 18165269, 18647627, 19036942, 19631764, 20064630, 20965148, 24656211, 31965079, 32167396, 33763872 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, 9744809, 15794182, 11404119, 16120315, 12609508, 15477393, 15870203, 16006433, 18165269, 19370763, 20064630, 20972245, 21364701, 21944974, 23257519, 24153443, 12527767, 12729737, 25192510, 25680467, 29161289, 31665838, 29666206, 31965079, 32167396, 33763872, 36769001 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 0.00 469 3274 AC : - + Encephalomyopathy with proteinuric kidney disease Reported 36404555 0 0.00 265 3274 A G - + Neuropsychiatric syndrome + cataract Reported 11723298, 16384802, 24931247, 31965079 0 0.00 33 3275 C A + - LHON Reported 10612844, 10612844, 15477393, 15477393, 29161289, 29161289, 31965079, 31965079 1 0.00 358 3275 C T + - Metabolic syndrome and polycystic ovary syndrome / LHON Reported 28027978, 29155328, 30194987, 31965079, 33552719, 34053002, 34120304 2 0.00 246 3277 G A + - Poss. hypertension factor Reported 19778529, 31965079 36 0.06 247 3278 T C + - Poss. hypertension factor Reported 19778529, 19778529, 24448545, 24448545, 31965079, 31965079 7 0.01 34 3280 A G - + Myopathy Cfrm [VUS*] 11335700, 12402350, 12798797, 15477393, 15870203, 20064630 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 128 0.22 36 3291 T C - + MELAS / Myopathy / Deafness+Cognitive Impairment Cfrm [LP] 7520241, 7603510, 10899447, 15477393, 15870203, 18165269, 18977334, 20064630, 20943236, 21863273, 22471645, 22538251, 23273904, 24338029, 29161289, 31965079, 32167396, 36769001 0 0.00 37 3302 A G - + MM Cfrm [LP] 8366098, 7635294, 7735877, 17130166, 15477393, 15351426, 16050991, 19370763, 20064630, 29161289, 28716227, 31965079, 34991096 0 0.00 38 3303 C T + + MMC Cfrm [LP] 7906985, 12729737, 9841711, 10431114, 11271374, 11768589, 12609508, 15477393, 15351426, 16337222, 20064630, 20226758, 21364701, 23258140, 23847141, 29161289, 30404982, 31965079, 32167396, 33013660, 32348839 0 0.00 225 3308 T G M1term + + Sudden Infant Death Reported 12160969 6 0.01 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 410 0.69 167 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 557 0.94 324 3335 T C I10T + - LHON Reported 27177320 60 0.10 357 3336 T C I10I - + Carotid atherosclerosis risk Reported 28951770, 29670672, 23874496 218 0.37 248 3337 G A V11M + - Cardiomyopathy Reported - possibly synergistic 18502698, 29987491 91 0.15 185 3340 C T P12S + - Encephaloneuromyopathy Reported 15465027, 29987491, 32652755 3 0.01 550 3365 T C L20P - + EXIT Reported 25626417 0 0.00 130 3376 G A E24K + + LHON MELAS overlap Cfrm [VUS*] 15657614, 19001017, 22079202, 20301353 0 0.00 220 3380 G A R25Q - + MELAS Reported 18590963, 36431069 3 0.01 312 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 as population-dependent; hg M marker 7603534, 8680405, 1732158, 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 774 1.30 245 3395 A G Y30C + + LHON / HCM with hearing loss Reported 21144833, 23847141, 28139165, 16060290, 20643099, 23301511, 32011699, 32652755, 36431069, 36827238 27 0.05 252 3396 T C Y30Y + - NSHL / MIDD Reported / Unclear 17336924, 8728705 452 0.76 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 166 0.28 195 3398 T C M31T + - DMDF+HCM / GDM / possibly LVNC cardiomyopathy-associated Reported 7599217, 8723687, 10894993, 20211276, 10704697 256 0.43 196 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, 19001017, 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 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 Reported 17535832, 18504678, 18977334, 31665838 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 207 0.35 527 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 35 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 2079 3.50 402 3571 C T L89F nr nr Possible LHON helper mut. Reported 29387390, 22553750, 11853713 135 0.23 528 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 9 0.02 212 3644 T C V113A nr nr BD-associated Reported 15533721, 19290059, 23563965, 29987491 228 0.38 381 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 Reported 18977334, 24642831 0 0.00 120 3697 G A G131S + + MELAS / Leigh Syndrome / LDYT / BSN Cfrm [LP] 15466014, 15972314, 16969869, 17562939, 18402672, 18977334, 19001017, 21457906, 24830958, 21364701, 30095618, 30623604, 30461153, 31996177, 20301353, 23010433, 28429146, 27338358, 34802141 0 0.00 141 3700 G A A132T + - LHON Cfrm [VUS*] 12150954, 22879922, 29987491, 30128709, 29253894, 20301353 3 0.01 329 3713 T C V136A + - LHON Reported 27177320 0 0.00 131 3733 G A E143K + + LHON Cfrm [VUS*] 15505787, 19001017, 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 110 0.19 417 3761 C A S152term - + Deafness w relapsing/remitting neurological symptoms Reported 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 279 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 163 0.27 181 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 Reported 15466014, 15972314, 18402672, 21457906, 16849371, 21364701, 29253894, 31996177, 28429146, 31665838 1 0.00 122 3949 T C Y215H - + MELAS Reported 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 18 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 8 0.01 565 4135 T C Y277H - + LHON Reported 25 0.04 9 4136 A G Y277C + - LHON Reported - possibly synergistic 7977345, 7599217, 7635294, 7760326, 8751850, 9150158, 2018041, 15972314, 18216301, 21457906, 29253894, 19616643, 35699829 70 0.12 410 4142 G T R279L - + Leigh Syndrome Reported 0 0.00 271 4142 G A R279Q - + Developmental delay, seizure, hypotonia Reported 23463613, 29987491, 32652755 0 0.00 10 4160 T C L285P + - LHON / LHON plus Reported - possibly synergistic 7770132, 7821467, 7635294, 7760326, 2018041, 15972314, 18647627, 19001017, 21457906, 22258525, 29253894, 29249004, 34168607, 28455970, 27127184, 20301353, 34670133, 8742999, 19616643, 35699829 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, 19001017, 21457906, 22879922, 24884847, 29987491, 29253894, 32045392, 20301353, 32652755, 20491810, 35104579, 34670133, 19616643 2 0.00 547 4175 G A W290term - + EXIT Reported 25626417 0 0.00 439 4215 A G W303W + - Low VO2max response Reported 33064405 5 0.01 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 6079 10.24 245 4263 A G + - Maternally inherited essential hypertension Reported 19778529, 19895710, 21454794, 21134354 4 0.01 106 4267 A G - + MM / CPEO Reported 12207935, 17965958, 15477393, 19718780 0 0.00 39 4269 A G - + FICP Reported 1632786, 7518448, 9466989, 15005711, 11000270, 12655007, 15477393, 20064630, 22781547 1 0.00 40 4274 T C - + CPEO / Motor Neuron Disease Reported 9339712, 16358336, 11017193, 12655007, 15477393, 17886296 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 11782991, 12655007, 15477393, 18977334, 22781547, 29253894, 31965079 2 0.00 42 4285 T C - + CPEO Reported 8607814, 10611124, 11017193, 12655007, 15477393, 22781547 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 8889580, 11406419, 12655007, 15477393, 16947981, 18177739, 19778529, 20064630, 21263444, 22241583, 29253894, 31965079, 33398350, 34991096 112 0.19 303 4296 G A - + Leigh Syndrome Reported 21982779, 23395828, 23288206, 31965079 0 0.00 44 4298 G A - + CPEO / MS Cfrm [VUS*] 9473477, 11017193, 10611123, 12655007, 16120360, 15477393, 17886296, 19718780, 20164463, 20064630, 31965079 0 0.00 45 4300 A G + + MICM Cfrm [LP*] 7646516, 10065021, 10334428, 12711217, 12655007, 12767666, 15477393, 20064630, 23847141, 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 1 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, 21144833, 23847141, 23847141, 31965079, 31965079, 23301511, 23301511 15 0.03 369 4317 A : nr nr Ptosis, deafness, stroke-like episodes Reported 23847141, 23847141, 24448545, 24448545, 31965079, 31965079 7 0.01 47 4317 A G + - FICP / poss. Hypertension / DEAF factor Reported 1978914, 1978914, 1433821, 1433821, 7603519, 7603519, 9466989, 9466989, 12655007, 12655007, 15477393, 15477393, 19778529, 19778529, 23774020, 23774020, 23847141, 23847141, 29348176, 29348176, 29253894, 29253894, 30272361, 30272361, 31965079, 31965079, 32169613, 32169613 19 0.03 48 4320 C T - + Mitochondrial Encephalocardiomyopathy Reported 7488201, 7488201, 7488201, 12655007, 12655007, 12655007, 15477393, 15477393, 15477393, 20064630, 20064630, 20064630, 31965079, 31965079, 31965079 2 0.00 318 4322 C CC - + Idiopathic Dilated Cardiomopathy Reported 18043288 3 0.01 363 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, 19718780, 20064630 0 0.00 50 4336 T C + + ADPD / Hearing Loss & Migraine / autism spectrum / intellectual disability Unclear 8004796, 8104867, 7624338, 8848229, 8741876, 9004131, 10953187, 8723226, 10680807, 10424809, 11335700, 11424923, 15247418, 15786469, 16154228, 15975594, 15292920, 16947981, 16773565, 17174475, 19076426, 19703591, 30369864, 29340697, 32337946, 31965079 525 0.88 251 4343 A G + - Poss. hypertension factor Reported 19778529, 31965079 56 0.09 252 4345 C T + - Poss. hypertension factor Reported 19778529 5 0.01 253 4353 T C + - Poss. hypertension factor Reported 19778529, 19778529, 19778529, 31965079, 31965079, 31965079 11 0.02 217 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 52 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 0.02 135 4381 A G + - LHON Reported 17003408, 31965079 4 0.01 314 4386 T C + - Heart disease / myopathy / hypertension Conflicting reports 16337222, 24470521, 26782414, 31965079 188 0.32 254 4387 C A + - Poss. hypertension factor Reported 19778529 2 0.00 255 4388 A G + - Poss. hypertension factor; intellectual disability Reported 19778529, 29340697, 31965079 66 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 0.05 175 4401 A G + - Hypertension+Ventricular Hypertrophy Reported 19546379, 19546379, 19546379, 18701880, 18701880, 18701880, 31504769, 31504769, 31504769 3 0.01 324 4403 G A - + Mitochondrial myopathy Reported 24711008 0 0.00 52 4409 T C - + Mitochondrial myopathy Reported 9633749, 14648149, 18835817, 19941338, 23376095, 23838278 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 16060290, 16431939, 17123466, 19022198, 19398658, 19778529, 21694735, 27214402, 29222331, 29211511, 29340697, 31965079, 32169613, 33552719, 34053002, 34755158, 34120304, 34991096 60 0.10 290 4437 C T + - Hypotonia, seizure, muscle weakness, lactic acidosis, hearing loss Reported 23463613, 27214402, 31965079 1 0.00 366 4440 G A - + Mitochondrial myopathy Reported 29174468, 29472063, 29482911, 29467576, 32970680 0 0.00 53 4450 G A - + Myopathy / MELAS / Leigh Syndrome / EXIT Cfrm [LP] 9384601, 11335700, 25468263, 30739820, 30952460 0 0.00 399 4452 T C nr nr Reported in tic disorder patient Reported 33289513 121 0.20 218 4454 T C + - Possible contributor to mito dysfunction / hypertension Reported 12406974, 19778529, 31965079 223 0.38 259 4456 C T - + Poss. hypertension factor Reported 19778529, 31965079 8 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 939 1.58 482 4516 G A G16D + - Possible LHON modulator Reported 31743754 0 0.00 529 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 241 0.41 176 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 100 0.17 158 4681 T C L71P - + Leigh Syndrome Reported 16996290, 21457906, 29253894, 16738010 1 0.00 201 4769 A A M100M + - SZ-associated Reported 19290059, 16773565 1411 2.38 169 4833 A G T122A + - Diabetes helper mutation AD, PD Reported 11095989, 18468491, 29987491, 11853713 593 1.00 243 4852 T A L128Q + - LHON Reported 20454697 0 0.00 315 4883 C T P138P + - Glaucoma Conflicting reports 27217714, 24448266 2745 4.62 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 2936 4.94 509 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 9 0.02 510 4959 G A A164T nr nr Possible LHON helper (one 11778 patient) Reported 11853713 58 0.10 272 5001 A AA frameshift - + Developmental delay, seizure, cardiomyopathy, lactic acidosis Reported 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 12192017, 23376095, 19273755, 23838278, 16815877 0 0.00 425 5153 A G L228L nr nr Recurrent pregnancy loss Reported 28696810 354 0.60 138 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 2722 4.58 15 5244 G A G259S - + LHON Reported 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 21 0.04 16 5460 G A A331T + + AD / PD / LHON Conflicting reports 8093052, 8937782, 8723226, 1370613, 1352971, 15972314, 19703591, 16773565, 29987491, 1463007 4011 6.75 17 5460 G T A331S + + AD Reported 8093052, 1370613, 1352971, 15972314, 19703591 0 0.00 357 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 46 0.08 54 5521 G A - + Mitochondrial myopathy Cfrm [LP] 9673981, 10611124, 23847141, 23841600, 29253894, 31181796, 31965079 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, 26297375, 29467576, 33208382 0 0.00 154 5543 T C - + Mitochondrial myopathy Reported 11506394, 15670724, 19718780, 19273755, 21712854, 26469001, 31965079, 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 0.00 279 5556 G A - + Combined OXPHOS defects Reported 19809478, 27450679 0 0.00 281 5556 G C - + Mito encephalomyopathy Reported 19744136 0 0.00 400 5558 A G nr nr Reported in tic disorder patient / NSSNHL Reported [VUS] 22567359, 33289513 107 0.18 193 5559 A G - + Leigh Syndrome Reported 19349200, 31965079, 23301511 0 0.00 168 5567 T C - + Myopathy Reported 18977334, 21364701, 31965079 58 0.10 173 5568 A G + - DEAF Reported 15292920, 31965079 10 0.02 208 5587 T C + + LHON / possible DEAF modifier / MIDD / dilated cardiomyopathy / hypertension / tic disorder Reported 9344764, 20153673, 22538251, 25968158, 28990081, 30783460, 33289513, 33552719, 34023389, 34053002, 34120304, 34993838 36 0.06 130 5591 G A - + Myopathy Reported 16476954, 19718780, 29139113, 31965079 0 0.00 315 5592 A G + - Coronary Heart Disease Reported 16947981, 24470521 29 0.05 401 5595 G A nr nr Reported in tic disorder patient Reported 33289513 1 0.00 440 5601 C T + - Possible 4435G helper in maternally inherited hypertension Reported 25968158, 24470521, 29211511, 33289513, 32169613, 33552719 588 0.99 373 5610 G A - + Myopathy Reported 25873012 0 0.00 322 5613 T C - + CPEO Reported 27014581 0 0.00 417 5618 T C nr nr Hearing loss patient Reported 17085680, 31965079, 32169613 18 0.03 58 5628 T C - + CPEO / DEAF enhancer / gout / tic disorder Reported 11404121, 16947981, 17434445, 29976239, 31965079, 32970680, 33289513 123 0.21 374 5631 G A - + Myopathy Reported 25873012, 29253894 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 0.02 151 5650 G A - + Myopathy Cfrm [LP] 11715067, 17825557, 19718780, 25652200, 29253894, 27626666, 30250142, 31181796, 32970680, 34050192 1 0.00 353 5652 C G + - Dilated Cardiomyopathy Reported 9344764 0 0.00 148 5655 T C + - DEAF enhancer / Hypertension risk Reported 10371545, 14960712, 22538251, 25968158, 27544295, 27161322, 31965079, 32169613, 34991096 364 0.61 326 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, 10332045, 19718780, 20064630, 26328603, 31268906, 30897601, 32419253, 32970680 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 1 0.00 402 5774 T C nr nr Reported in tic disorder patient Reported 33289513 62 0.10 140 5780 G A - + SNHL Reported 12802679, 31965079 19 0.03 136 5783 G A - + Myopathy / deafness / gout / tic disorder Reported 16955414, 29976239, 31965079, 33289513, 36039763 42 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 15338331, 31965079, 33289513, 32169613, 30430429 7 0.01 158 5802 T C + - DEAF1555 increased penetrance / obesity risk Reported 18386806, 18386806, 19818876, 19818876, 22538251, 22538251, 31965079, 31965079, 31868206, 31868206, 32010935, 32010935, 32003422, 32003422 1 0.00 421 5809 G A nr nr Hearing loss patient Reported 31965079, 32169613 1 0.00 62 5814 T C - + Encephalopathy / gout Reported (L2b marker) 8829635, 9384601, 9185178, 11335700, 16132471, 16947981, 16172508, 18977334, 20064630, 29976239, 17241783, 31965079 215 0.36 149 5816 A G + - Progressive Dystonia Reported 17886296, 17724295, 25652200 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, 22538251, 23563965, 31965079 354 0.60 422 5822 G A nr nr Hearing loss patient Reported 31965079, 31965079, 32169613, 32169613 3 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 450 0.76 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 260 0.44 102 5913 G A D4N + - Prostate Cancer / hypertension Reported 15647368, 25701779, 22949535 530 0.89 18 5920 G A W6term - + Myoglobinuria / EXIT Reported 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 14 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 253 0.43 96 6253 T C M117T + - Prostate Cancer / enriched in POAG cohort Reported 15647368, 16892079, 27217714 588 0.99 98 6261 G A A120T + - Prostate Cancer / LHON Reported 15647368, 16892079, 17003408, 31817256 431 0.73 107 6267 G A A122T + - Prostate Cancer Reported 15647368 92 0.15 108 6285 G A V128I + - Prostate Cancer Reported 15647368 127 0.21 396 6307 A G N135S . + Asthenozoospermic infertility Reported 23712756 2 0.00 184 6328 C T S142F + - EXIT (Exercise Intolerance) Reported 16284789, 21457906 0 0.00 97 6340 C T T146I + - Prostate Cancer Reported 15647368, 16892079 98 0.17 491 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 151 0.25 19 6489 C A L196I - + CO1 deficiency with epilepsia partialis continua Reported 12140182, 21457906, 29253894 93 0.16 532 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 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 173 0.29 190 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 9389715, 21457906 0 0.00 91 6742 T C I280T - + Acquired Idiopathic Sideroblastic Anemia Reported 9389715, 21457906 0 0.00 374 6860 A C K319N + - Dilated Cardiomyopathy Reported 9344764 0 0.00 20 6930 G A G343term - + Multisystem Disorder Reported 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 1419 2.39 216 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 65 0.11 112 7083 A G I394V + - Prostate Cancer Reported 15647368 16 0.03 113 7158 A G I419V + - Prostate Cancer Reported 15647368 43 0.07 533 7222 A G Y440C nr nr Unspecified suspected mitochondrial disorder Reported 32652755 0 0.00 489 7299 A G M466V + - LHON Reported 32358433 86 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 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 206 0.35 88 7445 A C term514S + - DEAF Reported 10577941, 10739773, 16361254, 18402672, 20064630, 19705751, 29253894, 25968158 17 0.03 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, 10577941, 8572257, 9247714, 9450881, 9742104, 10220138, 10936107, 10905659, 10760311, 10633132, 11215518, 11069477, 11691920, 11175301, 12655418, 15126302, 15477393, 15620132, 15694374, 16132471, 15292920, 15987292, 16092542, 16361254, 17489842, 18674747, 18402672, 18537605, 20064630, 21621438, 22567359, 22538251, 23525847, 25968158, 30035268, 29605341, 29921456, 29934116, 31965079, 32169613 1 0.00 166 7445 A T + - SNHL Reported 18639500 3 0.01 133 7445 A C + - DEAF Reported 10577941, 16361254, 18639500, 19705751, 20064630, 25968158, 32169613 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 0.03 230 7458 G A - + PEO Reported 20186009 0 0.00 243 7462 C T + - DEAF Reported 20722495 6 0.01 413 7471 C : nr nr Maternally inherited hypertension / deafness Reported [VUS](=7466d) 25968158, 25968158, 25968158, 31776834, 31776834, 31776834, 32169613, 32169613, 32169613 9 0.02 65 7471 C CC + + PEM / AMDF / Motor neuron disease-like Cfrm [P] 7581383, 9708714, 9778262, 9832034, 9778273, 10094190, 15482956, 10545608, 10220138, 10905659, 10760311, 11215518, 11378827, 11919191, 15126302, 15477393, 15382008, 15833431, 15292920, 16368237, 17637808, 17489842, 18398437, 18977334, 19718780, 20722495, 20064630, 22538251, 23847141, 31965079, 32504279, 34467602 7 0.01 309 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 0.02 423 7474 A G nr nr Hearing loss patient Reported 32169613 5 0.01 414 7474 A : nr nr Hearing loss and epilepsy Reported (=7474d) 19073569 4 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 25968158, 28027978 3 0.01 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, 23735083, 24491108 1 0.00 405 7502 C T nr nr Reported in tic disorder patient Reported 33289513 4 0.01 207 7505 T C + - Maternally inherited hearing loss Reported 20153673, 22538251, 25968158, 30336267, 32169613 0 0.00 147 7506 G A - + PEO with hearing loss Reported 17614276 0 0.00 67 7510 T C - + SNHL Cfrm [LP] 10978361, 10905659, 11215518, 16361254, 15126302, 15292920, 17489842, 18252214, 20064630, 22781547, 23430555, 29299381, 32970680, 12471220 1 0.00 68 7511 T C + + SNHL/Deafness Cfrm [LP] 15670746, 18340555, 10371545, 10905659, 10760311, 11215518, 12461693, 16361254, 12172268, 14960712, 15126302, 15477393, 15292920, 17637808, 17489842, 20064630, 22538251, 26279247, 25968158, 28320335, 29257206, 31965079, 32169613 2 0.00 69 7512 T C + + PEM / MERME / MELAS Reported 7669057, 9778262, 9832034, 11215518, 16361254, 15126302, 15477393, 16199753, 15292920, 17894844, 20064630, 31965079 0 0.00 395 7519 A : nr nr Deafness-associated Reported 33045734, 33045734, 33045734, 32169613, 32169613, 32169613 1 0.00 164 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 53 0.09 362 7551 A G + - DEAF increased penetrance (1555G helper) Reported 27544295, 27536005, 30592262, 32169613 2 0.00 297 7554 G A - + Myopathy+ataxia+nystagmus+migraines+lactic acidosis Reported 23696415, 32970680 1 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 Reported 10205264, 21457906 0 0.00 269 7598 G A A5T - + Possible LHON helper variant Reported 16418878, 27498855 638 1.07 146 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 Reported 19076426 2 0.00 23 7671 T A M29K - + MM Reported 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 291 0.49 224 7706 G A A41T + + Alpers-Huttenlocher-like Reported 12612282, 32652755 11 0.02 496 7749 T C I55T - + Possible association with sepsis Reported 33504965, 33504965 1 0.00 161 7859 G A D92N + - Progressive Encephalomyopathy Reported 15286228 167 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 Reported 11558799 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 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 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 Reported 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 0.00 362 8241 T G F219C - + MIDD+retinopathy Conflicting reports 28890306, 27422531 0 0.00 347 8249 G A G222term + - Mitochondrial myopathy Reported 2624428, 23841600 1 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, 15554876, 18651333, 19370763, 24689073, 29253894, 31965079, 32970680, 32169613 39 0.07 321 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*] 22925535, 23847141, 29663531 0 0.00 260 8311 T C + - Poss. hypertension factor Reported 19778529, 31965079 66 0.11 73 8313 G A - + MNGIE-like / Progressive mito cytopathy Cfrm [LP] 9380435, 17620140, 12737626, 15477393, 15100439, 19618438, 29253894, 34557026, 35778412 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 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, 25968158, 29155328, 30194987, 31965079 62 0.10 76 8344 A G - + MERRF; Other - LD / depressive mood disorder / leukoencephalopathy / HiCM / lipomas Cfrm [P] 3180221, 2112427, 2124116, 1678125, 1674297, 1709275, 1910259, 8228033, 1661776, 1962048, 1910341, 1899320, 1487239, 1324294, 1431990, 1334369, 1463006, 1606473, 8454287, 8386419, 8388680, 8513395, 8447321, 8492942, 8428629, 8170567, 8041403, 8198140, 8133313, 8006688, 8139569, 7837776, 7882812, 7850981, 7647790, 7603535, 7603509, 7739567, 7603536, 7735877, 8622733, 8809026, 8559379, 9365365, 9541428, 9384601, 9798744, 9818878, 9851442, 9883816, 10942580, 17275787, 17989367, 10426322, 10862082, 10939569, 10611124, 11074292, 10699170, 10753928, 10716764, 11160915, 11335700, 16120315, 12471464, 12661941, 12876264, 15317755, 15164143, 14748908, 15477393, 15100439, 15466086, 15619607, 15683723, 15893315, 7565871, 16947981, 17053148, 16483543, 16815877, 16326995, 17236134, 17886296, 17653689, 17323145, 18674747, 18319067, 18647627, 18848389, 19370763, 19266142, 19486129, 19718780, 20064630, 19941338, 20123042, 20581069, 21473984, 21935892, 22411789, 22577219, 22249460, 22781547, 22538251, 23257519, 23297368, 23376095, 23838278, 23390135, 24642831, 14639582, 25192510, 24961732, 25559684, 24931247, 25652200, 26404827, 26995359, 23006856, 28716227, 29253894, 29139113, 30146801, 29650490, 28754700, 29288969, 30674338, 29390138, 31178486, 31178476, 8602753, 31345444, 30797798, 31665838, 31965079, 32504279, 34146515, 35922766, 36675808, 36744444, 36928678 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 18 0.03 77 8348 A G + + Cardiomyopathy / SNHL / poss. hypertension factor Reported 11446509, 15477393, 15100439, 16337222, 18252214, 19778529, 20064630, 20111055, 31965079 121 0.20 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, 22538251, 25192510, 31965079 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, 15554876, 16326995, 18176892, 18319067, 19278689, 19370763, 19718780, 20064630, 21263444, 22538251, 25192510, 25909222, 29983856, 31965079, 35821181 0 0.00 171 8381 A G T6A + - MIDD / LVNC cardiomyopathy-assoc. Reported 11062027, 15452396 14 0.02 551 8382 C T T6I nr nr Suspected mito disease Reported 32858252 9 0.02 254 8393 C T P10S - + Reversible brain pseudoatrophy Reported 17101920, 21457906 302 0.51 278 8403 T C I13T + - Episodic weakness and progressive neuropathy Reported 24153443 3 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 2282 3.84 478 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 158 0.27 314 8527 A G ATP8:K54K ATP6:M1M + - Neuromuscular disorder, possible helper mutation Reported 26993169 240 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 0.03 318 8561 C G ATP8:P66A ATP6:P12R + + Ataxia w neuropathy, DM, SNHL, and hypogonadism Reported 27502083 0 0.00 399 8561 C T ATP8:P66S ATP6:P12L - + Ataxia w psychomotor delay Reported 31788426 0 0.00 539 8572 G A ATP8:term69term ATP6:G16S + - Spinocerebellar ataxia Reported 34037856 209 0.35 458 8573 G A G16D + - Patient with suspected mitochondrial disease Reported by paper as Benign 30763462 62 0.10 540 8578 C T P18S + - Spinocerebellar ataxia Reported 34037856 30 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, 23463613, 31743754, 32858252 11 0.02 244 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 1723 2.90 227 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 63 0.11 351 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 170 0.29 423 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 198 0.33 145 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 0 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 8 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 7 0.01 100 8932 C T P136S + - Prostate tumor / Neuromuscular disorder Reported [B*] 15647368, 18850577, 26993169 240 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 47 0.08 134 8950 G A V142I + - LDYT / Spinocerebellar Ataxia Reported 16196519, 18495510, 30763462, 34037856 85 0.14 515 8951 T C V142A nr nr Patient with ataxia Reported 32504279 9 0.02 369 8959 G A E145K + + Developmental delay, intellectual disability, low citrilline Reported 29307858, 29480377 4 0.01 555 8969 G C S148T nr nr Suspected mito disease Reported 32858252 0 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 1 0.00 556 8975 T C L150P nr nr Suspected mito disease Reported 32858252 21 0.04 422 8989 G C A155P - + NARP syndrome Reported 23266623, 30763462 0 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 6 0.01 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, 33064405, 19160410, 29101127, 14748908, 33717984, 28429146, 32858252, 31665838 2 0.00 526 8993 TG CA L156P + + Developmental delay & myopathy Reported 32652755 0 0.00 466 8999 T C V158A + - Patient with suspected mitochondrial disease Reported 30763462, 32858252 8 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 27 0.05 124 9016 A G I164V - + LHON Reported 16050984, 17123466 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 41 0.07 467 9026 G A G167D - + Spinocerebellar ataxia / patient with suspected mitochondrial disease Reported [VUS*] 30763462, 24448545, 34037856 3 0.01 359 9029 A G H168R + + LHON-like Reported 24986921, 30763462, 32652755, 23463613 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 53 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 2494 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 33 0.06 306 9071 C T S182L + - Potentially functional variant cosegregating with LHON3635A Reported 23304069 17 0.03 469 9088 T C S188P - + Patient with suspected mitochondrial disease Reported by paper as Likely Benign 30763462 23 0.04 228 9098 T C I191T + - Predisposition to anti-retroviral mito disease Reported 19947808 62 0.10 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 27 0.05 343 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 50 0.08 472 9152 T C I209T - + Patient with suspected mitochondrial disease Reported 30763462 17 0.03 545 9154 C T Q210term - + Peripheral neuropathy ataxia IgA nephropathy Reported 34418069, 34635923 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 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 0.01 132 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 3 0.01 133 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 0 0.00 188 9379 G A W58term - + MM w lactic acidosis Reported 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 600 1.01 407 9444 C T R80W + - Possible LHON helper mutation Reported 31817256 1 0.00 250 9478 T C V91A - + Leigh Disease Reported 20525945, 29253894, 23301511 22 0.04 144 9480 TTTTTCTTCGCAGGA : FFFAG-del - + Myoglobinuria Reported 8630495, 10788526, 11506394, 11782982, 20854934 0 0.00 377 9487 TCGCAGGATTTTTCT : FFAGFF-del - + Myoglobinuria Reported (alt loc) 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 0.00 264 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 7710535, 7599218, 8240356, 10520236, 11339587, 16132471, 21457906, 23735083, 30831606, 11579587, 27119776, 20301353 178 0.30 378 9856 T C I217T + - LVNC cardiomyopathy / gout Reported 23465694, 29976239 17 0.03 155 9861 T C F219L + - AD Reported 16358358 123 0.21 408 9921 G A A239T + - Possible LHON helper mutation Reported 31817256 62 0.10 35 9952 G A W249term - + Mitochondrial Encephalopathy Reported 9634511 0 0.00 36 9957 T C F251L - + PEM / MELAS / NAION / HCM / gout Reported 7496173, 15823923, 18587274, 21249588, 15282179, 10065021, 29976239, 32652755 48 0.08 352 9966 G A V254I nr nr LHON possible helper variant Reported 15896721 388 0.65 219 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 3 0.01 372 10003 T C + - Hypertension / maternally inherited diabetes / hearing loss Reported 26134044, 25615420, 27544295, 31965079, 32169613 11 0.02 425 10005 A G nr nr Hearing loss patient Reported 24470521, 31965079, 32169613 21 0.04 83 10006 A G + - CIPO / Encephalopathy Unclear 1709275, 1709275, 8129854, 8129854, 11335700, 11335700, 15477393, 15477393, 31965079, 31965079 6 0.01 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 1 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, 16947981, 16773565, 29253894, 31965079 183 0.31 406 10055 A G nr nr Tic disorder patient / hearing loss patient Reported 23463613, 23463613, 31965079, 31965079, 33289513, 33289513, 32169613, 32169613 6 0.01 428 10057 T C nr nr Hearing loss patient Reported 32169613, 32169613 3 0.01 277 10086 A G N10D + - Hypertensive end-stage renal disease Reported 23563965, 11532685, 27217714, 29987491 455 0.77 403 10134 C A Q26K - + Leigh Disease Reported 25118196 0 0.00 426 10142 C T N28N nr nr Recurrent pregnancy loss Reported 28696810 691 1.16 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 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 / Leigh-like 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 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 4 0.01 136 10237 T C I60T + - LHON Reported 12227465, 29987491, 20301353, 35773337 97 0.16 303 10254 G A D66N - + Leigh Disease Reported 20202874 0 0.00 521 10350 C A L98M + - LHON Reported 34177762 0 0.00 440 10397 A G W113W + - Low VO2max response Reported 33064405 461 0.78 128 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 34106 57.43 165 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 25276 42.56 150 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 0.00 354 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 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 19809478 0 0.00 181 10454 T C + - DEAF helper mut. Reported 16955413, 19818876, 22538251, 27498855, 31965079 208 0.35 382 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 1393 2.35 202 10652 T C I61I - + BD / MDD-associated Reported 19290059 57 0.10 38 10663 T C V65A + - LHON Cfrm [LP] 8680405, 11935318, 16523671, 15972314, 17003408, 18402672, 19001017, 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 17 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 223 0.38 450 11150 G A A131T + - Found in a Multiple Sclerosis patient Reported 31798871 147 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 0.00 441 11250 T C L164P + - Low VO2max response Reported 33064405 0 0.00 397 11251 A G L164L nr nr Reduced risk of PD Reported 23645593, 30369864 5708 9.61 143 11253 T C I165T + - LHON PD Reported 10737123, 12150954, 12271374, 19001017, 29987491, 29253894, 20301353, 36827238 305 0.51 260 11365 T C A202A + - found in HCM patient Reported 16266762 119 0.20 309 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 7483 12.60 346 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, 19001017, 19818876, 21482521, 21457906, 17723226, 27159682, 29987491, 29253894, 29387390, 20301353, 35104579 365 0.61 77 11777 C A R340S - + Leigh Disease Cfrm [LP] 16120329, 12707444, 15576045, 15972314, 18402672, 18977334, 20064630, 20502985, 21457906, 24642831, 30095618, 29428506 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, 19001017, 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 187 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 6296 10.60 119 11919 C T S387F + - Thyroid Cancer Cell Line Reported 15608681, 29987491 1 0.00 371 11984 T C Y409H + - Leigh Syndrome Reported 17022785 64 0.11 178 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 0.01 43 12026 A G I423V + - DM Reported 9519725, 15972314, 29987491, 19199242 265 0.45 213 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 41 0.07 407 12141 A G nr nr Reported in tic disorder patient Reported 33289513 8 0.01 316 12146 A G + + MELAS Reported 21704194 0 0.00 108 12147 G A - + MERRF-MELAS / Encephalopathy Cfrm [LP] 14967777, 15111688, 16483543, 19718780, 20064630, 31965079 0 0.00 292 12148 T C - + Developmental delay, optic atrophy, cataract, hearing loss, myopathy Reported 23463613, 31965079 1 0.00 463 12158 A G - + MELAS Reported 24931247, 35092007 0 0.00 429 12167 T C nr nr Hearing loss patient Reported 32169613, 32169613 1 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 16738010, 31965079, 32169613 31 0.05 88 12192 G A + - MICM / possible G15927A deafness modulator Reported 10621222, 12560876, 30854964, 31965079, 33552719 124 0.21 286 12201 T C - + Maternally inherited non-syndromic deafness Cfrm [LP] 21931169, 22538251, 23463613, 24920829, 31965079, 31819004, 33064405, 32169613, 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 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 229 0.39 180 12236 G A + - DEAF Reported 17637808, 22241583, 23563965, 23847141, 31965079 436 0.73 89 12246 C A nr nr CIPO Reported 1709275, 8129854 3 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, 11938495, 15983868, 15126302, 17653689, 19718780, 25652200, 29253894 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 0.00 159 12276 G A - + CPEO Cfrm [LP] 15591266, 15649400, 23847141, 31965079 1 0.00 408 12279 A G nr nr Reported in tic disorder patient Reported 33289513 260 0.44 360 12280 A G + - Hypertension Reported 30783460, 31965079 94 0.16 236 12283 G A - + CPEO Reported 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, 16446307, 22538251, 32970680 0 0.00 91 12308 A G + + CPEO / Stroke / CM / Breast & Renal & Prostate Cancer Risk / Altered brain pH /sCJD Reported [B] 1709275, 1757091, 1910259, 1542564, 8254046, 8155739, 8079988, 9384601, 14571278, 11145497, 11406419, 11313776, 16947981, 16773565, 16406974, 18502698, 18709563, 19290059, 24667788, 31965079 7459 12.56 92 12311 T C + + CPEO Reported 7525879, 7804130, 16947981, 31965079 64 0.11 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] 8923013, 9361028, 12398839, 10332036, 18977334, 19718780, 20064630, 23395464, 23874496, 23631826, 25834827, 28951770, 29670672, 31540444, 31965079 0 0.00 165 12316 G A - + CPEO / mitochondrial myopathy Cfrm [VUS*] 18603265, 20163808, 23847141 0 0.00 300 12317 T C - + CPEO+ptosis+myopathy+exercise intolerance+diabetes Reported 23696415 1 0.00 94 12320 A G - + MM Reported 9207784, 9012410, 10611123, 17886296, 19718780, 23631826, 25652200 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 199 0.34 548 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 350 0.59 210 12372 G A L12L + - Altered brain pH / sCJD patients Reported 19290059, 16773565, 24667788 8036 13.53 255 12397 A G T21A + - PD, early onset Reported 21457906, 18524835, 29987491 371 0.62 385 12414 T : frameshift nr nr EXIT Reported 23847141 0 0.00 241 12425 A : frameshift - + Mitochondrial myopathy & renal failure Reported 20018511, 20018511 2 0.00 261 12477 T C S47S + - Possible HCM susceptibility Reported 16266762 302 0.51 247 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 237 0.40 428 12662 A G N109S nr nr Recurrent pregnancy loss Reported 28696810 79 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 23743 39.98 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 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 674 1.13 129 12848 C T A171V - + LHON Reported 16240359, 19001017, 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 15972314, 18332249, 21457906, 12509858 1 0.00 345 13046 T C M237T - + LHON/MELAS overlap syndrome Reported 26894521, 31996177, 32652755 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 12796552, 15972314, 18332249, 21457906, 34298071 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 1 0.00 263 13135 G A A267T + - Possible HCM susceptibility Reported 19473338, 29987491 575 0.97 485 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 42 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 1676 2.82 518 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 0.00 153 13379 A C H348P + - LHON Reported [VUS] 17003408 0 0.00 519 13379 A G H348R + - LHON Cfrm [VUS*] 31669237, 34177762 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, 24931247, 34670906, 35778412 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 0 0.00 47 13528 A G T398A + - LHON-like, LHON, MELAS Reported 11102991, 15972314, 22589247, 17940288, 29987491, 32652755, 19103152, 26735972, 28419775, 11938495, 19370763, 18477584, 32094358, 31594508, 34599203 72 0.12 564 13565 C T S410F + - Found in MELAS patient Reported 17940288, 27110715, 11938495, 19370763, 18477584, 26735972 76 0.13 116 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 3287 5.53 238 13637 A G Q434R + - Possible LHON factor Reported 7901141, 24319328, 29253894, 20301353 582 0.98 511 13702 C G R456G nr nr Possible LHON helper (one 14484 patient) Reported 11853713 17 0.03 442 13707 G A L457L + - Low VO2max response Reported 33064405 28 0.05 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 4389 7.39 512 13712 C T A459V nr nr Possible LHON helper (one 11778 patient) Reported 11853713 10 0.02 49 13730 G A G465E - + LHON Reported 7760326, 8593537, 8899049, 8213825, 15972314, 19001017, 21457906, 20301353, 12638016 0 0.00 506 13759 G A A475T + - Possible LHON factor Reported 16331570 2018 3.40 117 13831 C A L499M - + Thyroid Cancer Cell Line Reported 15608681, 29987491 3 0.01 192 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 181 0.30 456 14002 A G T556A + - High altitude pulmonary edema susceptibility Reported 31358833 139 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 294 0.50 349 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, 19001017, 29987491, 20301353, 32652755, 18806273, 19047048, 26735972 7 0.01 256 14319 T C N119D + - PD, early onset Reported 21457906, 18524835, 29987491 76 0.13 127 14325 T C N117D + - LHON Reported 12736867, 29987491, 20301353 55 0.09 95 14340 C T V112M + - SNHL Reported 15637703, 29987491 21 0.04 502 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 + - 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, 19001017, 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 3 0.01 524 14465 G A T70I - + LHON / various supected mitochondrial disease Reported 34264415, 32652755 0 0.00 52 14482 C A M64I + + LHON Cfrm [LP] 12112086, 12150954, 11931086, 16532388, 15972314, 18402672, 19319978, 19001017, 21457906, 22879922, 29987491, 29253894, 17122117, 20301353 2 0.00 53 14482 C G M64I + + LHON Cfrm [LP] 9443868, 15972314, 18402672, 20064630, 21887510, 29987491, 20301353, 8742999 0 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, 19001017, 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 68 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 0 0.00 55 14495 A G L60S - + LHON Cfrm [LP] 11133798, 16380918, 15972314, 19001017, 21457906, 21397051, 22879922, 29253894, 17122117, 20301353, 33779865 2 0.00 56 14498 T C Y59C + + LHON Reported 8854108, 9177303, 15972314, 19001017, 20301353 0 0.00 214 14502 T C I58V + - LHON Reported - possibly synergistic 15896721, 18440284, 19732751, 20691156, 29987491, 27427386, 29387390, 32045392, 33858285, 24398099 210 0.35 416 14512 TA : frameshift - + EXIT w mild myopathy & hyperCKaemia Reported 32158465 0 0.00 386 14535 C CC frameshift nr nr DMDF Reported 23847141 0 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, 19001017, 20064630, 22879922, 29253894, 20301353 6 0.01 168 14577 T C I33V - + MIDM Reported 10909988 433 0.73 350 14582 A G V31A + - LHON synergistic combo 14258A + 14582G Reported: individually neutral variants causing LHON in combination 29444077 347 0.58 58 14596 A T I26M + - LHON Reported 8644732, 15972314, 17123466, 19001017, 29987491, 20301353 0 0.00 404 14597 A G I26T - + LHON / Leigh Syndrome Reported 31669237, 34045482 0 0.00 164 14600 G A P25L + + Leigh Disease w/optic atrophy / ASD mouse model Reported 17535832, 18977334, 23129651, 33536343 0 0.00 203 14668 C T M2M + - Depressive Disorder associated Reported 19290059 2380 4.01 216 14674 T C + - Reversible COX deficiency myopathy Cfrm [LP] 8155739, 19720722, 21194154, 21931168, 16150714, 23814040, 25407320, 29253894, 31333056, 31965079, 32970680, 33128823, 34732400, 33832841, 34806237 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, 28429146, 29340697, 31965079 345 0.58 184 14692 A G + - LHON helper / Maternally inherited diabetes & deafness /tic disorder Reported 8728098, 27544295, 27519417, 33289513, 32169613, 34991096 20 0.03 142 14693 A G + + MELAS / LHON / DEAF / hypertension helper Reported 14571459, 16364244, 16331560, 16947981, 16955413, 16414144, 17434142, 18708405, 19376484, 19818876, 22538251, 23563965, 29387390, 31965079, 33552719, 34053002, 33840063, 34120304 339 0.57 145 14696 A G - + Progressive Encephalopathy Reported 15286228, 31965079 81 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, 15048886, 15607216, 10220138, 11437868, 11938495, 12393175, 15126302, 15880407, 15983868, 17886296, 17653689, 19199242, 20045353, 20064630, 22577219, 22249460, 22538251, 25652200, 26469001, 29253894, 31965079, 32313153, 32948797, 23301511 1 0.00 155 14710 G A - + Encephalomyopathy + Retinopathy Cfrm [VUS*] 11506394, 15670724, 19718780, 20064630, 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 12131 20.43 59 14787 TTAA : frameshift - + PD / MELAS Reported 9894888 0 0.00 443 14797 A G S17S + - Low VO2max response Reported 33064405 7 0.01 142 14831 G A A29T + - LHON Reported 12150954, 20301353 115 0.19 215 14841 A G N32S - + LHON helper mut. Reported 19555656 21 0.04 60 14846 G A G34S - + EXIT / possibly antiatherogenic, poss. myocardial infarction association Reported 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, 22638077 1 0.00 373 14894 T C F50L nr nr LHON Reported 10663786 9 0.02 538 14970 A G Y75C nr nr LHON Reported 7 0.01 235 15024 G A C93Y + - Possible DEAF modifier Reported 20153673 36 0.06 204 15043 G A G99G + - MDD-associated / possible factor in high altitude sickness Reported 19290059, 16773565, 33420243 13544 22.81 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 Reported 17637808, 22241583, 31817256 132 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 Reported 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 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 8 0.01 486 15218 A G T158A + - Possible LHON modulator Reported 31743754 1059 1.78 398 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 865 1.46 308 15237 T C I164T + - Potentially functional variant cosegregating with LHON3635A Reported 23304069 6 0.01 66 15242 G A G166term - + Mitochondrial Encephalomyopathy Reported 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 846 1.42 217 15287 T C F181L - + Possible DEAF helper mut. Reported; hg I6a & H10c marker 17999439, 32887465 110 0.19 473 15301 G A L185L nr nr Possible factor in high altitude sickness, LHON Reported 33420243, 16331570 16237 27.34 514 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 0.01 444 15451 C T F235F + - Low VO2max response Reported 33064405 53 0.09 283 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 291 0.49 69 15498 G A G251D - + DEAF / Infantile histiocytoid cardiomyopathy Reported 10960495, 15126279, 20064630, 20111055, 18848389, 21457906, 29253894, 32652755 15 0.03 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 204 0.34 154 15674 T C S310P + - LHON Reported 17003408, 21196529 161 0.27 231 15693 T C M316T + - Possibly LVNC cardiomyopathy-associated Reported 20211276 735 1.24 135 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 73 0.12 316 15784 T C P346P + - POAG - potential for association Reported 24694284, 27217714, 24102601 1946 3.28 180 15800 C T Q352term - + EXIT / Myopathy Reported 11731284, 18977334 0 0.00 372 15804 T C V353A + - Fibromyalgia Reported 26566881, 32652755 35 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 510 0.86 356 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 0.02 182 15908 T C + - DEAF helper mutation Reported 16955413, 19818876, 22538251, 31965079 191 0.32 361 15909 A G + - Hypertension Reported 27544295, 27544295, 29129694, 29129694, 31965079, 31965079 3 0.01 409 15910 C T + - Tic disorder patient / hearing loss patient / coronary heart disease Reported 31842766, 33289513, 32169613 28 0.05 96 15915 G A - + Encephalomyopathy Reported 8769114, 9367299, 31965079, 32970680 1 0.00 97 15923 A G + + LIMM / MERRF / mito disease Reported 1645537, 1379415, 8511015, 22638997, 30236074 0 0.00 98 15924 A G nr nr LIMM Reported 2043137, 1645537, 1379415, 10680807, 16773565, 27498855, 31965079 2082 3.51 435 15926 C T nr nr Hearing loss patient Reported 23847141, 32169613 10 0.02 126 15927 G A + - LHON / Multiple Sclerosis / DEAF1555 increased penetrance / CHD Reported 8899049, 9113500, 10680807, 18386806, 18820594, 18930888, 19818876, 22538251, 23563965, 23736300, 24470521, 26782414, 29225014, 30541130, 30854964, 31965079, 33552719, 34053002, 34120304, 34991096 581 0.98 127 15928 G A + + Multiple Sclerosis / idiopathic repeat miscarriage / AD protection Reported 8899049, 9113500, 10377009, 10680807, 16773565, 23563965, 31965079 3016 5.08 335 15933 G A + - Suspected mito disease Reported 28187756 0 0.00 206 15942 T C + - Possibly LVNC-associated Reported 20211276, 31965079 436 0.73 264 15944 T : + - MM Conflicting reports 9832049, 18178636, 31965079 836 1.41 410 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, 10369889, 31965079, 31965079, 33289513, 33289513, 35808913, 35808913 2 0.00 131 15951 A G + - LHON / LHON modulator Conflicting reports 16624503, 19022198, 21983721, 23563965, 26000946, 29387390, 31965079, 33552719, 34053002, 34120304 409 0.69 411 15952 C T nr nr Reported in tic disorder patient Reported 33289513 5 0.01 390 15958 A T - + Severe myopathy / EXIT Reported 27816331, 32419253 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 31743754, 32991883, 33552719 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 Tic disorder patient / hearing loss patient Reported 33289513, 32169613 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 1530 2.58 445 16068 T C noncoding + - Low VO2max response Reported 33064405 13 0.02 302 16081 A G noncoding - + Cyclic Vomiting Syndrome Reported 15368478 2 0.00 301 16093 T C noncoding - + Cyclic Vomiting Syndrome Reported 15368478, 31143779 3381 5.69 446 16125 G A noncoding + - Low VO2max response Reported 33064405 2 0.00 300 16129 G A noncoding - + Cyclic Vomiting Syndrome with Migraine Reported 15368478 7698 12.96 562 16162 A G noncoding nr nr Possible susceptibility to bullous pemphigoid Reported 31824475 1098 1.85 299 16176 C T noncoding - + Cyclic Vomiting Syndrome with Migraine Reported 15368478 479 0.81 296 16183 A C noncoding nr + Melanoma patients Reported 22174736 7694 12.96 505 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 14736 24.81 297 16192 C T noncoding nr nr Melanoma patients Reported 22174736 2590 4.36 353 16217 T C noncoding + - Endometriosis Reported 29124462 4232 7.13 563 16263 T C noncoding nr nr Possible susceptibility to bullous pemphigoid Reported 31824475 570 0.96 298 16270 C T noncoding nr nr Melanoma patients Reported 22174736 2938 4.95 209 16300 A G noncoding + - BD-associated Reported 19290059, 20837494 305 0.51 340 16318 A C noncoding nr nr Non-alcoholic steatohepatitis - potential for association Reported 94 0.16 317 16390 G A noncoding + - POAG - potential for association Reported 24694284, 27217714, 24102601 3242 5.46 257 16519 T T noncoding + - Cyclic Vomiting Syndrome with Migraine /metastasis Reported 19368653, 19220304, 22174736, 25332060 22465 37.83