| - GRCh37:
- ChrMT:1555
- GRCh38:
- ChrMT:1555
| MT-ND1, MT-RNR1 | | Mitochondrial disease, streptomycin response - Toxicity, tobramycin response - Toxicity, amikacin response - Toxicity, aminoglycoside antibacterials response - Toxicity, kanamycin response - Toxicity, gentamicin response - Toxicity | Pathogenic; drug response (Dec 15, 2022) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- ChrMT:3307
- GRCh38:
- ChrMT:3307
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3308
- GRCh38:
- ChrMT:3308
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3308
- GRCh38:
- ChrMT:3308
| MT-ND1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3308
- GRCh38:
- ChrMT:3308
| MT-ND1 | | not specified, Leigh syndrome | Benign/Likely benign (Feb 4, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrMT:3310
- GRCh38:
- ChrMT:3310
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3313
- GRCh38:
- ChrMT:3313
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3316
- GRCh38:
- ChrMT:3316
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3316
- GRCh38:
- ChrMT:3316
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3320
- GRCh38:
- ChrMT:3320
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3328
- GRCh38:
- ChrMT:3328
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3335
- GRCh38:
- ChrMT:3335
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3337
- GRCh38:
- ChrMT:3337
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3338
- GRCh38:
- ChrMT:3338
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3340
- GRCh38:
- ChrMT:3340
| MT-ND1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3344
- GRCh38:
- ChrMT:3344
| MT-ND1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3349
- GRCh38:
- ChrMT:3349
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3350
- GRCh38:
- ChrMT:3350
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3357
- GRCh38:
- ChrMT:3357
| MT-ND1 | | Mitochondrial disease | Uncertain significance (Dec 10, 2021) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- ChrMT:3358
- GRCh38:
- ChrMT:3358
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3368
- GRCh38:
- ChrMT:3368
| MT-ND1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3376
- GRCh38:
- ChrMT:3376
| MT-ND1 | | Mitochondrial disease | Uncertain significance (Jun 30, 2022) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- ChrMT:3380
- GRCh38:
- ChrMT:3380
| MT-ND1 | | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | Pathogenic (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3385
- GRCh38:
- ChrMT:3385
| MT-ND1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3388
- GRCh38:
- ChrMT:3388
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3391
- GRCh38:
- ChrMT:3391
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3394
- GRCh38:
- ChrMT:3394
| MT-ND1 | | not provided, Leigh syndrome | Conflicting interpretations of pathogenicity (Oct 17, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrMT:3395
- GRCh38:
- ChrMT:3395
| MT-ND1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3395
- GRCh38:
- ChrMT:3395
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3396
- GRCh38:
- ChrMT:3396
| MT-ND1 | | not provided | Likely benign (Mar 18, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3397
- GRCh38:
- ChrMT:3397
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3398
- GRCh38:
- ChrMT:3398
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3399
- GRCh38:
- ChrMT:3399
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3419
- GRCh38:
- ChrMT:3419
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3421
- GRCh38:
- ChrMT:3421
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3427
- GRCh38:
- ChrMT:3427
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3434
- GRCh38:
- ChrMT:3434
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3447
- GRCh38:
- ChrMT:3447
| MT-ND1 | | not provided | Benign (Jul 26, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrMT:3460
- GRCh38:
- ChrMT:3460
| MT-ND1 | | Mitochondrial disease | Pathogenic (Apr 25, 2023) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- ChrMT:3472
- GRCh38:
- ChrMT:3472
| MT-ND1 | | not specified | Uncertain significance (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3481
- GRCh38:
- ChrMT:3481
| MT-ND1 | | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | Pathogenic (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3488
- GRCh38:
- ChrMT:3488
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3492
- GRCh38:
- ChrMT:3492
| MT-ND1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3496
- GRCh38:
- ChrMT:3496
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3497
- GRCh38:
- ChrMT:3497
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3498
- GRCh38:
- ChrMT:3498
| MT-ND1 | | not provided | Likely benign (Jan 6, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3502
- GRCh38:
- ChrMT:3502
| MT-ND1 | | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | Likely pathogenic (Apr 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrMT:3504
- GRCh38:
- ChrMT:3504
| MT-ND1 | | not provided | Likely benign (Feb 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3505
- GRCh38:
- ChrMT:3505
| MT-ND1 | | not provided, not specified, Leigh syndrome
| Benign (Oct 17, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrMT:3508
- GRCh38:
- ChrMT:3508
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3509
- GRCh38:
- ChrMT:3509
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3511
- GRCh38:
- ChrMT:3511
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3513
- GRCh38:
- ChrMT:3513
| MT-ND1 | | not provided | Benign (Jul 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3520
- GRCh38:
- ChrMT:3520
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3523
- GRCh38:
- ChrMT:3523
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3526
- GRCh38:
- ChrMT:3526
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3533
- GRCh38:
- ChrMT:3533
| MT-ND1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3535
- GRCh38:
- ChrMT:3535
| MT-ND1 | | not provided | Benign (Feb 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3535
- GRCh38:
- ChrMT:3535
| MT-ND1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3547
- GRCh38:
- ChrMT:3547
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3548
- GRCh38:
- ChrMT:3548
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3552
- GRCh38:
- ChrMT:3552
| MT-ND1 | | not provided | Benign (Sep 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3555
- GRCh38:
- ChrMT:3555
| MT-ND1 | | not provided | Likely benign (Feb 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3565
- GRCh38:
- ChrMT:3565
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3566
- GRCh38:
- ChrMT:3566
| MT-ND1 | | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | Likely pathogenic (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3569
- GRCh38:
- ChrMT:3569
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3571
- GRCh38:
- ChrMT:3571
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3582
- GRCh38:
- ChrMT:3582
| MT-ND1 | | not provided | Uncertain significance (Jan 21, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3592
- GRCh38:
- ChrMT:3592
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3593
- GRCh38:
- ChrMT:3593
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3607
- GRCh38:
- ChrMT:3607
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3622
- GRCh38:
- ChrMT:3622
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3624
- GRCh38:
- ChrMT:3624
| MT-ND1 | | Generalized hypotonia, Global developmental delay | Uncertain significance (Nov 21, 2016) | no assertion criteria provided |
| - GRCh37:
- ChrMT:3628
- GRCh38:
- ChrMT:3628
| MT-ND1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3635
- GRCh38:
- ChrMT:3635
| MT-ND1 | | Mitochondrial disease | Likely pathogenic (Aug 23, 2022) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- ChrMT:3640
- GRCh38:
- ChrMT:3640
| MT-ND1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3643
- GRCh38:
- ChrMT:3643
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3644
- GRCh38:
- ChrMT:3644
| MT-ND1 | | Leigh syndrome | Likely benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3652
- GRCh38:
- ChrMT:3652
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3653
- GRCh38:
- ChrMT:3653
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3661
- GRCh38:
- ChrMT:3661
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3669
- GRCh38:
- ChrMT:3669
| MT-ND1 | | not specified | Likely benign (Feb 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3670
- GRCh38:
- ChrMT:3670
| MT-ND1 | | Leigh syndrome, Ptosis, Abnormal CSF lactate concentration, Abnormality of eye movement, Gait disturbance, Dysarthria, Increased serum lactate | Uncertain significance (Dec 9, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrMT:3685
- GRCh38:
- ChrMT:3685
| MT-ND1 | | Leigh syndrome | Likely pathogenic (Dec 21, 2021) | no assertion criteria provided |
| - GRCh37:
- ChrMT:3693
- GRCh38:
- ChrMT:3693
| MT-ND1 | | not specified | Benign (May 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3697
- GRCh38:
- ChrMT:3697
| MT-ND1 | | Mitochondrial disease | Likely pathogenic (Mar 24, 2022) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- ChrMT:3700
- GRCh38:
- ChrMT:3700
| MT-ND1 | | Mitochondrial disease | Uncertain significance (Mar 24, 2022) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- ChrMT:3701
- GRCh38:
- ChrMT:3701
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3709
- GRCh38:
- ChrMT:3709
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3710
- GRCh38:
- ChrMT:3710
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3712
- GRCh38:
- ChrMT:3712
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3713
- GRCh38:
- ChrMT:3713
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3715
- GRCh38:
- ChrMT:3715
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3733
- GRCh38:
- ChrMT:3733
| MT-ND1 | | Mitochondrial disease | Uncertain significance (Mar 24, 2022) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- ChrMT:3736
- GRCh38:
- ChrMT:3736
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3745
- GRCh38:
- ChrMT:3745
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3746
- GRCh38:
- ChrMT:3746
| MT-ND1 | | Leigh syndrome | Benign (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3749
- GRCh38:
- ChrMT:3749
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3751
- GRCh38:
- ChrMT:3751
| MT-ND1 | | Leigh syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3761
- GRCh38:
- ChrMT:3761
| MT-ND1 | | Mitochondrial disease, See cases | Pathogenic/Likely pathogenic (Dec 9, 2019) | criteria provided, multiple submitters, no conflicts |