| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Leigh syndrome |
Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign |
rs1265529467, rs2083411, rs13848, rs147876332, rs35462421, rs113012830, rs199648872, rs138479490, rs140776586, rs35715497, rs374970309, rs11541494, rs7573892, rs77216981, rs564992184, rs886055815, rs886055817, rs752139055, rs886055819, rs759194775, rs192485848, rs546052985, rs8369, rs149783296, rs886055827, rs149933652, rs886055811, rs34277046, rs144864637, rs886055812, rs114807372, rs78395168, rs773090030, rs55998047, rs546735567, rs886055821, rs66534347, rs886055822, rs575477219, rs149563558, rs886055823, rs116254382, rs886055825, rs762669820, rs200760509, rs559797625, rs886055813, rs886055816, rs144590599, rs10933622, rs886055824, rs539829771, rs778261754, rs770747594, rs886055826, rs577432343, rs886055810, rs7588974, rs886055814, rs58261980, rs1132778, rs570872300, rs886055818, rs4854069, rs138899326, rs886055820, rs13396556, rs13424612, rs74614612, rs746019378, rs1694684016, rs1466622883, rs114944621, rs1694693520, rs1694694826, rs146483651, rs1574807018, rs537694779, rs1694700570, rs1694704488, rs1357789210, rs576198967, rs1003876097, rs1694711139, rs752124492, rs532456176, rs559550890, rs953906857, rs74540213, rs756778773, rs1289543938, rs1218747092, rs111969519, rs77614498, rs943989946, rs6736791, rs1574808891, rs1694740787, rs370309206, rs373034894, rs148829605, rs535714073, rs1227609332, rs143421241, rs80067639, rs562457080, rs1694755462, rs1314058965, rs773071160, rs1483288404, rs746931112, rs557576958, rs192964209, rs552149779, rs111337344, rs575940810, rs187916829, rs116403651, rs192203978, rs143353868, rs184925264, rs754187471, rs541016943, rs1694787943, rs551167199, rs1303822860, rs1422021026, rs144208727, rs1349086163, rs374065697, rs189306598, rs1694810369, rs563264912, rs1054245819, rs557106858, rs73103629, rs143693330, rs112660586, rs201449418, rs758042753, rs1188020120, rs1222086753, rs148656779, rs1407750102, rs759587515, rs1559403435, rs749199433, rs118106981, rs558134843, rs980893132, rs928084265, rs1258770997, rs920826583, rs1697147446, rs1158773739 View all (140 more) |
RCV001334279 RCV000276426 RCV000392330 RCV000355965 RCV000987070 RCV000273080 RCV000388170 RCV000289165 RCV001141067 RCV001142922 RCV001141189 RCV000328287 RCV000407125 RCV000364536 RCV000293130 RCV000362023 RCV000346747 RCV000392087 RCV000330773 RCV000382246 RCV000320098 RCV000365252 RCV000263165 RCV000301141 RCV000279233 RCV000282070 RCV000325291 RCV000266639 RCV000378087 RCV000281251 RCV000403818 RCV000355304 RCV000294050 RCV000342719 RCV000337345 RCV000297697 RCV000407422 RCV000367481 RCV000309561 RCV000366444 RCV000327138 RCV000321400 RCV000386938 RCV000290264 RCV000305494 RCV000392831 RCV000279849 RCV000373549 RCV000273905 RCV000279152 RCV000349229 RCV000361689 RCV000317150 RCV000311748 RCV000343470 RCV000300216 RCV000405985 RCV000408158 RCV000310655 RCV000263944 RCV000276578 RCV000345362 RCV000405302 RCV000300653 RCV000260857 RCV000325365 RCV000295440 RCV000345516 RCV000302356 RCV005358037 RCV001139463 RCV001139465 RCV001140237 RCV001140239 RCV001140242 RCV001142083 RCV001137326 RCV001137327 RCV001137329 RCV001139559 RCV001139561 RCV001140329 RCV001142177 RCV001142178 RCV001137438 RCV001137441 RCV001139658 RCV001139660 RCV001140420 RCV001140423 RCV001140424 RCV001142283 RCV001142285 RCV001137544 RCV001137546 RCV001139765 RCV001139767 RCV001139768 RCV001140536 RCV001140537 RCV001142382 RCV001142384 RCV001142386 RCV001137642 RCV001137643 RCV001139860 RCV001139861 RCV001139863 RCV001139865 RCV001140644 RCV001140645 RCV001140648 RCV001140650 RCV001142516 RCV001142518 RCV001142520 RCV001137752 RCV001137753 RCV001139992 RCV001139994 RCV001140748 RCV001140751 RCV001140753 RCV001142615 RCV001142617 RCV001137858 RCV001137861 RCV001137862 RCV001140107 RCV001140110 RCV001140111 RCV001140873 RCV001142721 RCV001142722 RCV001142724 RCV001137977 RCV001138394 RCV001138396 RCV001140972 RCV001140974 RCV001142821 RCV001142823 RCV001138079 RCV001138081 RCV001138504 RCV001138506 RCV001141070 RCV001141072 RCV001142924 RCV001138190 RCV001138193 RCV001138195 RCV001138617 RCV001138075 RCV001141065 |
| Malignant tumor of esophagus |
Likely benign |
rs201255198 |
RCV005896450 |
| Mitochondrial complex I deficiency |
Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs138479490, rs886055819, rs886055827, rs200760509, rs559797625, rs886055816, rs539829771, rs577432343, rs138899326 |
RCV000344109 RCV000383047 RCV000379454 RCV000360176 RCV000335419 RCV000316615 RCV000267063 RCV000350479 RCV000313673 |
| Mitochondrial complex I deficiency, nuclear type 1 |
Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance |
rs2083411, rs13848, rs147876332, rs35462421, rs113012830, rs199648872, rs140776586, rs35715497, rs374970309, rs11541494, rs7573892, rs77216981, rs564992184, rs886055815, rs886055817, rs752139055, rs759194775, rs192485848, rs546052985, rs8369, rs149783296, rs149933652, rs886055811, rs34277046, rs144864637, rs886055812, rs114807372, rs78395168, rs773090030, rs55998047, rs546735567, rs886055821, rs66534347, rs886055822, rs575477219, rs149563558, rs886055823, rs116254382, rs886055825, rs762669820, rs886055813, rs144590599, rs10933622, rs886055824, rs778261754, rs770747594, rs886055826, rs886055810, rs7588974, rs886055814, rs58261980, rs1132778, rs570872300, rs886055818, rs4854069, rs886055820, rs13396556, rs13424612, rs74614612, rs1694684016, rs1466622883, rs114944621, rs1694693520, rs1694694826, rs146483651, rs1574807018, rs537694779, rs1694700570, rs1694704488, rs1357789210, rs576198967, rs1003876097, rs1694711139, rs752124492, rs532456176, rs559550890, rs953906857, rs74540213, rs756778773, rs1289543938, rs1218747092, rs111969519, rs77614498, rs943989946, rs6736791, rs1574808891, rs1694740787, rs370309206, rs373034894, rs148829605, rs535714073, rs1227609332, rs143421241, rs80067639, rs562457080, rs1694755462, rs1314058965, rs773071160, rs1483288404, rs746931112, rs557576958, rs192964209, rs552149779, rs111337344, rs575940810, rs187916829, rs116403651, rs192203978, rs143353868, rs184925264, rs754187471, rs541016943, rs1694787943, rs551167199, rs1303822860, rs1422021026, rs144208727, rs1349086163, rs374065697, rs189306598, rs1694810369, rs563264912, rs1054245819, rs557106858, rs73103629, rs143693330, rs112660586, rs201449418, rs758042753, rs1188020120, rs1222086753, rs148656779, rs1407750102, rs759587515, rs1559403435, rs749199433, rs118106981, rs558134843, rs980893132, rs928084265, rs1258770997, rs920826583, rs1697147446, rs1158773739 View all (129 more) |
RCV000326842 RCV000340422 RCV000275112 RCV001138077 RCV000381649 RCV000333603 RCV001141068 RCV001142921 RCV001141188 RCV000378198 RCV000313749 RCV000312144 RCV000350383 RCV000305026 RCV000384939 RCV000305816 RCV000285514 RCV000374741 RCV000310551 RCV000318301 RCV000392325 RCV000334827 RCV000272597 RCV000363605 RCV000321071 RCV000319847 RCV000363196 RCV000263762 RCV000386093 RCV000376401 RCV000284687 RCV000407435 RCV000336034 RCV000315183 RCV000275465 RCV000269623 RCV000360871 RCV000268599 RCV000292644 RCV000401972 RCV000372049 RCV000370813 RCV000373766 RCV000294263 RCV000353317 RCV000371039 RCV000283761 RCV000370283 RCV000351219 RCV000408151 RCV000321470 RCV000334028 RCV000288049 RCV000340471 RCV000353226 RCV000272672 RCV000408270 RCV000408266 RCV000405266 RCV001139464 RCV001139466 RCV001140238 RCV001140240 RCV001140241 RCV001142082 RCV001137325 RCV001137328 RCV001137330 RCV001139560 RCV001139562 RCV001140328 RCV001142176 RCV001142179 RCV001137439 RCV001137440 RCV001139659 RCV001139661 RCV001140421 RCV001140422 RCV001140425 RCV001142284 RCV001142286 RCV001137543 RCV001137545 RCV001139764 RCV001139766 RCV001139769 RCV001140535 RCV001140538 RCV001142383 RCV001142385 RCV001142387 RCV001137641 RCV001137644 RCV001139859 RCV001139862 RCV001139864 RCV001139866 RCV001140643 RCV001140646 RCV001140647 RCV001140649 RCV001142515 RCV001142517 RCV001142519 RCV001137751 RCV001137754 RCV001139991 RCV001139993 RCV001140749 RCV001140750 RCV001140752 RCV001142614 RCV001142616 RCV001137859 RCV001137860 RCV001137863 RCV001140108 RCV001140109 RCV001140112 RCV001140872 RCV001142720 RCV001142723 RCV001142725 RCV001137976 RCV001138393 RCV001138395 RCV001140973 RCV001140975 RCV001142820 RCV001142822 RCV001138078 RCV001138080 RCV001138505 RCV001138507 RCV001141069 RCV001141071 RCV001142923 RCV001138191 RCV001138192 RCV001138194 RCV001138618 RCV001138076 RCV001141066 |
| NDUFA10-related disorder |
Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs113012830, rs932076104, rs760219925, rs4149567, rs140776586, rs35715497, rs144489062, rs754678966, rs201255198, rs200830660, rs118106981 |
RCV003965057 RCV003951315 RCV003923685 RCV003903709 RCV003955191 RCV003927845 RCV003939046 RCV003944009 RCV003942348 RCV003950614 RCV003928737 |
| Ovarian serous cystadenocarcinoma |
Uncertain significance |
rs552149779 |
RCV005913863 |
| Sarcoma |
Benign |
rs770002740 |
RCV005924905 |
| Schizophrenia |
Uncertain significance |
rs547407637 |
RCV002463552 |
| See cases |
Conflicting classifications of pathogenicity |
rs917371150 |
RCV002252392 |
|