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Items: 1 to 100 of 178

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrMT:1555
GRCh38:
ChrMT:1555
MT-ND1, MT-RNR1Mitochondrial 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
2.
GRCh37:
ChrMT:3307
GRCh38:
ChrMT:3307
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
3.
GRCh37:
ChrMT:3308
GRCh38:
ChrMT:3308
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
4.
GRCh37:
ChrMT:3308
GRCh38:
ChrMT:3308
MT-ND1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
5.
GRCh37:
ChrMT:3308
GRCh38:
ChrMT:3308
MT-ND1not specified, Leigh syndromeBenign/Likely benign
(Feb 4, 2020)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
ChrMT:3310
GRCh38:
ChrMT:3310
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
7.
GRCh37:
ChrMT:3313
GRCh38:
ChrMT:3313
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
8.
GRCh37:
ChrMT:3316
GRCh38:
ChrMT:3316
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
9.
GRCh37:
ChrMT:3316
GRCh38:
ChrMT:3316
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
10.
GRCh37:
ChrMT:3320
GRCh38:
ChrMT:3320
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
11.
GRCh37:
ChrMT:3328
GRCh38:
ChrMT:3328
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
12.
GRCh37:
ChrMT:3335
GRCh38:
ChrMT:3335
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
13.
GRCh37:
ChrMT:3337
GRCh38:
ChrMT:3337
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
14.
GRCh37:
ChrMT:3338
GRCh38:
ChrMT:3338
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
15.
GRCh37:
ChrMT:3340
GRCh38:
ChrMT:3340
MT-ND1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
16.
GRCh37:
ChrMT:3344
GRCh38:
ChrMT:3344
MT-ND1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
17.
GRCh37:
ChrMT:3349
GRCh38:
ChrMT:3349
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
18.
GRCh37:
ChrMT:3350
GRCh38:
ChrMT:3350
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
19.
GRCh37:
ChrMT:3357
GRCh38:
ChrMT:3357
MT-ND1Mitochondrial diseaseUncertain significance
(Dec 10, 2021)
reviewed by expert panel
FDA Recognized Database
20.
GRCh37:
ChrMT:3358
GRCh38:
ChrMT:3358
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
21.
GRCh37:
ChrMT:3368
GRCh38:
ChrMT:3368
MT-ND1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
22.
GRCh37:
ChrMT:3376
GRCh38:
ChrMT:3376
MT-ND1Mitochondrial diseaseUncertain significance
(Jun 30, 2022)
reviewed by expert panel
FDA Recognized Database
23.
GRCh37:
ChrMT:3380
GRCh38:
ChrMT:3380
MT-ND1Juvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(Oct 17, 2019)
criteria provided, single submitter
24.
GRCh37:
ChrMT:3385
GRCh38:
ChrMT:3385
MT-ND1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
25.
GRCh37:
ChrMT:3388
GRCh38:
ChrMT:3388
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
26.
GRCh37:
ChrMT:3391
GRCh38:
ChrMT:3391
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
27.
GRCh37:
ChrMT:3394
GRCh38:
ChrMT:3394
MT-ND1not provided, Leigh syndromeConflicting interpretations of pathogenicity
(Oct 17, 2019)
criteria provided, conflicting interpretations
28.
GRCh37:
ChrMT:3395
GRCh38:
ChrMT:3395
MT-ND1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
29.
GRCh37:
ChrMT:3395
GRCh38:
ChrMT:3395
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
30.
GRCh37:
ChrMT:3396
GRCh38:
ChrMT:3396
MT-ND1not providedLikely benign
(Mar 18, 2016)
criteria provided, single submitter
31.
GRCh37:
ChrMT:3397
GRCh38:
ChrMT:3397
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
32.
GRCh37:
ChrMT:3398
GRCh38:
ChrMT:3398
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
33.
GRCh37:
ChrMT:3399
GRCh38:
ChrMT:3399
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
34.
GRCh37:
ChrMT:3419
GRCh38:
ChrMT:3419
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
35.
GRCh37:
ChrMT:3421
GRCh38:
ChrMT:3421
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
36.
GRCh37:
ChrMT:3427
GRCh38:
ChrMT:3427
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
37.
GRCh37:
ChrMT:3434
GRCh38:
ChrMT:3434
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
38.
GRCh37:
ChrMT:3447
GRCh38:
ChrMT:3447
MT-ND1not providedBenign
(Jul 26, 2019)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
ChrMT:3460
GRCh38:
ChrMT:3460
MT-ND1Mitochondrial diseasePathogenic
(Apr 25, 2023)
reviewed by expert panel
FDA Recognized Database
40.
GRCh37:
ChrMT:3472
GRCh38:
ChrMT:3472
MT-ND1not specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
41.
GRCh37:
ChrMT:3481
GRCh38:
ChrMT:3481
MT-ND1Juvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(Oct 17, 2019)
criteria provided, single submitter
42.
GRCh37:
ChrMT:3488
GRCh38:
ChrMT:3488
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
43.
GRCh37:
ChrMT:3492
GRCh38:
ChrMT:3492
MT-ND1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
44.
GRCh37:
ChrMT:3496
GRCh38:
ChrMT:3496
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
45.
GRCh37:
ChrMT:3497
GRCh38:
ChrMT:3497
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
46.
GRCh37:
ChrMT:3498
GRCh38:
ChrMT:3498
MT-ND1not providedLikely benign
(Jan 6, 2017)
criteria provided, single submitter
47.
GRCh37:
ChrMT:3502
GRCh38:
ChrMT:3502
MT-ND1Mitochondrial myopathy with reversible cytochrome C oxidase deficiency, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely pathogenic
(Apr 11, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
ChrMT:3504
GRCh38:
ChrMT:3504
MT-ND1not providedLikely benign
(Feb 5, 2020)
criteria provided, single submitter
49.
GRCh37:
ChrMT:3505
GRCh38:
ChrMT:3505
MT-ND1not provided, not specified, Leigh syndrome
Benign
(Oct 17, 2019)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
ChrMT:3508
GRCh38:
ChrMT:3508
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
51.
GRCh37:
ChrMT:3509
GRCh38:
ChrMT:3509
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
52.
GRCh37:
ChrMT:3511
GRCh38:
ChrMT:3511
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
53.
GRCh37:
ChrMT:3513
GRCh38:
ChrMT:3513
MT-ND1not providedBenign
(Jul 10, 2019)
criteria provided, single submitter
54.
GRCh37:
ChrMT:3520
GRCh38:
ChrMT:3520
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
55.
GRCh37:
ChrMT:3523
GRCh38:
ChrMT:3523
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
56.
GRCh37:
ChrMT:3526
GRCh38:
ChrMT:3526
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
57.
GRCh37:
ChrMT:3533
GRCh38:
ChrMT:3533
MT-ND1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
58.
GRCh37:
ChrMT:3535
GRCh38:
ChrMT:3535
MT-ND1not providedBenign
(Feb 13, 2019)
criteria provided, single submitter
59.
GRCh37:
ChrMT:3535
GRCh38:
ChrMT:3535
MT-ND1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
60.
GRCh37:
ChrMT:3547
GRCh38:
ChrMT:3547
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
61.
GRCh37:
ChrMT:3548
GRCh38:
ChrMT:3548
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
62.
GRCh37:
ChrMT:3552
GRCh38:
ChrMT:3552
MT-ND1not providedBenign
(Sep 17, 2018)
criteria provided, single submitter
63.
GRCh37:
ChrMT:3555
GRCh38:
ChrMT:3555
MT-ND1not providedLikely benign
(Feb 13, 2019)
criteria provided, single submitter
64.
GRCh37:
ChrMT:3565
GRCh38:
ChrMT:3565
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
65.
GRCh37:
ChrMT:3566
GRCh38:
ChrMT:3566
MT-ND1Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyLikely pathogenic
(Oct 17, 2019)
criteria provided, single submitter
66.
GRCh37:
ChrMT:3569
GRCh38:
ChrMT:3569
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
67.
GRCh37:
ChrMT:3571
GRCh38:
ChrMT:3571
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
68.
GRCh37:
ChrMT:3582
GRCh38:
ChrMT:3582
MT-ND1not providedUncertain significance
(Jan 21, 2016)
criteria provided, single submitter
69.
GRCh37:
ChrMT:3592
GRCh38:
ChrMT:3592
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
70.
GRCh37:
ChrMT:3593
GRCh38:
ChrMT:3593
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
71.
GRCh37:
ChrMT:3607
GRCh38:
ChrMT:3607
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
72.
GRCh37:
ChrMT:3622
GRCh38:
ChrMT:3622
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
73.
GRCh37:
ChrMT:3624
GRCh38:
ChrMT:3624
MT-ND1Generalized hypotonia, Global developmental delayUncertain significance
(Nov 21, 2016)
no assertion criteria provided
74.
GRCh37:
ChrMT:3628
GRCh38:
ChrMT:3628
MT-ND1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
75.
GRCh37:
ChrMT:3635
GRCh38:
ChrMT:3635
MT-ND1Mitochondrial diseaseLikely pathogenic
(Aug 23, 2022)
reviewed by expert panel
FDA Recognized Database
76.
GRCh37:
ChrMT:3640
GRCh38:
ChrMT:3640
MT-ND1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
77.
GRCh37:
ChrMT:3643
GRCh38:
ChrMT:3643
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
78.
GRCh37:
ChrMT:3644
GRCh38:
ChrMT:3644
MT-ND1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
79.
GRCh37:
ChrMT:3652
GRCh38:
ChrMT:3652
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
80.
GRCh37:
ChrMT:3653
GRCh38:
ChrMT:3653
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
81.
GRCh37:
ChrMT:3661
GRCh38:
ChrMT:3661
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
82.
GRCh37:
ChrMT:3669
GRCh38:
ChrMT:3669
MT-ND1not specifiedLikely benign
(Feb 25, 2021)
criteria provided, single submitter
83.
GRCh37:
ChrMT:3670
GRCh38:
ChrMT:3670
MT-ND1Leigh 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
84.
GRCh37:
ChrMT:3685
GRCh38:
ChrMT:3685
MT-ND1Leigh syndromeLikely pathogenic
(Dec 21, 2021)
no assertion criteria provided
85.
GRCh37:
ChrMT:3693
GRCh38:
ChrMT:3693
MT-ND1not specifiedBenign
(May 24, 2021)
criteria provided, single submitter
86.
GRCh37:
ChrMT:3697
GRCh38:
ChrMT:3697
MT-ND1Mitochondrial diseaseLikely pathogenic
(Mar 24, 2022)
reviewed by expert panel
FDA Recognized Database
87.
GRCh37:
ChrMT:3700
GRCh38:
ChrMT:3700
MT-ND1Mitochondrial diseaseUncertain significance
(Mar 24, 2022)
reviewed by expert panel
FDA Recognized Database
88.
GRCh37:
ChrMT:3701
GRCh38:
ChrMT:3701
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
89.
GRCh37:
ChrMT:3709
GRCh38:
ChrMT:3709
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
90.
GRCh37:
ChrMT:3710
GRCh38:
ChrMT:3710
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
91.
GRCh37:
ChrMT:3712
GRCh38:
ChrMT:3712
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
92.
GRCh37:
ChrMT:3713
GRCh38:
ChrMT:3713
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
93.
GRCh37:
ChrMT:3715
GRCh38:
ChrMT:3715
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
94.
GRCh37:
ChrMT:3733
GRCh38:
ChrMT:3733
MT-ND1Mitochondrial diseaseUncertain significance
(Mar 24, 2022)
reviewed by expert panel
FDA Recognized Database
95.
GRCh37:
ChrMT:3736
GRCh38:
ChrMT:3736
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
96.
GRCh37:
ChrMT:3745
GRCh38:
ChrMT:3745
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
97.
GRCh37:
ChrMT:3746
GRCh38:
ChrMT:3746
MT-ND1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
98.
GRCh37:
ChrMT:3749
GRCh38:
ChrMT:3749
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
99.
GRCh37:
ChrMT:3751
GRCh38:
ChrMT:3751
MT-ND1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
100.
GRCh37:
ChrMT:3761
GRCh38:
ChrMT:3761
MT-ND1Mitochondrial disease, See casesPathogenic/Likely pathogenic
(Dec 9, 2019)
criteria provided, multiple submitters, no conflicts
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