| - GRCh37:
- ChrMT:5782-13922
- GRCh38:
- ChrMT:5782-13922
| MT-ND4L, MT-ND5, MT-TC, MT-TD, MT-TR, MT-TS1, MT-TK, MT-TL2, MT-TS2, MT-TH, MT-TY, MT-ND4, MT-TG, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND3 | | Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemia | Likely pathogenic (Nov 4, 2014) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:5794-14876
- GRCh38:
- ChrMT:5794-14876
| MT-CYB, MT-ND3, MT-TL2, MT-TR, MT-TS1, MT-TS2, MT-TY, MT-ATP6, MT-ATP8, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-ND6, MT-TC, MT-TD, MT-CO1, MT-CO2, MT-CO3, MT-TE, MT-TK | | Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemia | Likely pathogenic (Nov 4, 2014) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:5907
- GRCh38:
- ChrMT:5907
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:5910
- GRCh38:
- ChrMT:5910
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:5911
- GRCh38:
- ChrMT:5911
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:5913
- GRCh38:
- ChrMT:5913
| MT-CO1 | | Leigh syndrome, not specified | Benign (Jul 27, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrMT:5918
- GRCh38:
- ChrMT:5918
| MT-CO1 | | not provided | Benign (Jul 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:5920
- GRCh38:
- ChrMT:5920
| MT-CO1 | | Myoglobinuria, recurrent | Pathogenic (Sep 12, 2000) | no assertion criteria provided |
| - GRCh37:
- ChrMT:5951
- GRCh38:
- ChrMT:5951
| MT-CO1 | | not provided | Benign/Likely benign (May 25, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrMT:5954
- GRCh38:
- ChrMT:5954
| MT-CO1 | | Tetralogy of Fallot | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrMT:5961
- GRCh38:
- ChrMT:5961
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:5973
- GRCh38:
- ChrMT:5973
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:5979
- GRCh38:
- ChrMT:5979
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:5985
- GRCh38:
- ChrMT:5985
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:5999
- GRCh38:
- ChrMT:5999
| MT-CO1 | | not specified | Benign (Aug 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6003-11220
- GRCh38:
- ChrMT:6003-11220
| MT-TR, MT-TS1, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-TD, MT-TG, MT-TK, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2 | | Mitochondrial disease | Pathogenic (May 22, 2017) | no assertion criteria provided |
| - GRCh37:
- ChrMT:6012
- GRCh38:
- ChrMT:6012
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6018
- GRCh38:
- ChrMT:6018
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6026
- GRCh38:
- ChrMT:6026
| MT-CO1 | | not provided | Benign (Nov 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6037
- GRCh38:
- ChrMT:6037
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6040
- GRCh38:
- ChrMT:6040
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6047
- GRCh38:
- ChrMT:6047
| MT-CO1 | | not specified | Benign (Aug 27, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6048
- GRCh38:
- ChrMT:6048
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6052
- GRCh38:
- ChrMT:6052
| MT-CO1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6054
- GRCh38:
- ChrMT:6054
| MT-CO1 | | not provided | Uncertain significance (Mar 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6060
- GRCh38:
- ChrMT:6060
| MT-CO1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6060
- GRCh38:
- ChrMT:6060
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6061
- GRCh38:
- ChrMT:6061
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6071
- GRCh38:
- ChrMT:6071
| MT-CO1 | | not provided | Benign/Likely benign (May 25, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrMT:6072
- GRCh38:
- ChrMT:6072
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6075
- GRCh38:
- ChrMT:6075
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6081
- GRCh38:
- ChrMT:6081
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6081
- GRCh38:
- ChrMT:6081
| MT-CO1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6093
- GRCh38:
- ChrMT:6093
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6109
- GRCh38:
- ChrMT:6109
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6120
- GRCh38:
- ChrMT:6120
| MT-CO1 | | not provided, Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrMT:6121
- GRCh38:
- ChrMT:6121
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6126
- GRCh38:
- ChrMT:6126
| MT-CO1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6132
- GRCh38:
- ChrMT:6132
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6145
- GRCh38:
- ChrMT:6145
| MT-CO1 | | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | Likely pathogenic (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6150
- GRCh38:
- ChrMT:6150
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6174
- GRCh38:
- ChrMT:6174
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6228
- GRCh38:
- ChrMT:6228
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6237
- GRCh38:
- ChrMT:6237
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6243
- GRCh38:
- ChrMT:6243
| MT-CO1 | | not provided | not provided | no assertion provided |
| - GRCh37:
- ChrMT:6249
- GRCh38:
- ChrMT:6249
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6252
- GRCh38:
- ChrMT:6252
| MT-CO1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6253
- GRCh38:
- ChrMT:6253
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6254
- GRCh38:
- ChrMT:6254
| MT-CO1 | | not provided | Likely benign (Aug 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6258
- GRCh38:
- ChrMT:6258
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6260
- GRCh38:
- ChrMT:6260
| MT-CO1 | | not provided | Benign/Likely benign (Mar 22, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrMT:6261
- GRCh38:
- ChrMT:6261
| MT-CO1 | | not provided, Leigh syndrome | Benign/Likely benign (Oct 17, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrMT:6264
- GRCh38:
- ChrMT:6264
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6267
- GRCh38:
- ChrMT:6267
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6273
- GRCh38:
- ChrMT:6273
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6277
- GRCh38:
- ChrMT:6277
| MT-CO1 | | Familial colorectal cancer | Pathogenic (Mar 3, 2009) | no assertion criteria provided |
| - GRCh37:
- ChrMT:6278
- GRCh38:
- ChrMT:6278
| MT-CO1 | | not provided | Likely benign (Jun 15, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6285
- GRCh38:
- ChrMT:6285
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6286
- GRCh38:
- ChrMT:6286
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6289
- GRCh38:
- ChrMT:6289
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6299
- GRCh38:
- ChrMT:6299
| MT-CO1 | | not provided | Uncertain significance (Jan 4, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6307
- GRCh38:
- ChrMT:6307
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6324
- GRCh38:
- ChrMT:6324
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6328
- GRCh38:
- ChrMT:6328
| MT-CO1 | | Cytochrome c oxidase I deficiency | Pathogenic (Mar 1, 2006) | no assertion criteria provided |
| - GRCh37:
- ChrMT:6339
- GRCh38:
- ChrMT:6339
| MT-CO1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6340
- GRCh38:
- ChrMT:6340
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6345
- GRCh38:
- ChrMT:6345
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6353
- GRCh38:
- ChrMT:6353
| MT-CO1 | | not provided | Benign (Oct 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6358
- GRCh38:
- ChrMT:6358
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6366
- GRCh38:
- ChrMT:6366
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6366
- GRCh38:
- ChrMT:6366
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6367
- GRCh38:
- ChrMT:6367
| MT-CO1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6393
- GRCh38:
- ChrMT:6393
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6420
- GRCh38:
- ChrMT:6420
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6445
- GRCh38:
- ChrMT:6445
| MT-CO1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6446
- GRCh38:
- ChrMT:6446
| MT-CO1 | | not provided | Benign (Feb 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6456
- GRCh38:
- ChrMT:6456
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6465
- GRCh38:
- ChrMT:6465
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6468-15586
- GRCh38:
- ChrMT:6468-15586
| MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TD, MT-TE, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS1, MT-TS2 | | Mitochondrial disease | Pathogenic (May 22, 2017) | no assertion criteria provided |
| - GRCh37:
- ChrMT:6480
- GRCh38:
- ChrMT:6480
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6481
- GRCh38:
- ChrMT:6481
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6489
- GRCh38:
- ChrMT:6489
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6497
- GRCh38:
- ChrMT:6497
| MT-CO1 | | not specified | Benign (Apr 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6504
- GRCh38:
- ChrMT:6504
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6505
- GRCh38:
- ChrMT:6505
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6510
- GRCh38:
- ChrMT:6510
| MT-CO1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6520
- GRCh38:
- ChrMT:6520
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6526
- GRCh38:
- ChrMT:6526
| MT-CO1 | | Leigh syndrome | Likely pathogenic (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6546
- GRCh38:
- ChrMT:6546
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6550
- GRCh38:
- ChrMT:6550
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6554
- GRCh38:
- ChrMT:6554
| MT-CO1 | | not provided | Uncertain significance (Nov 4, 2014) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6564
- GRCh38:
- ChrMT:6564
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6570
- GRCh38:
- ChrMT:6570
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6608
- GRCh38:
- ChrMT:6608
| MT-CO1 | | Abnormal mitral valve physiology | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrMT:6626
- GRCh38:
- ChrMT:6626
| MT-CO1 | | not provided | Likely benign (Jul 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6642
- GRCh38:
- ChrMT:6642
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6663
- GRCh38:
- ChrMT:6663
| MT-CO1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6664
- GRCh38:
- ChrMT:6664
| MT-CO1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6671
- GRCh38:
- ChrMT:6671
| MT-CO1 | | not provided | Benign (Feb 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:6673
- GRCh38:
- ChrMT:6673
| MT-CO1 | | Abnormal mitral valve physiology | Likely pathogenic | no assertion criteria provided |