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Items: 1 to 100 of 108

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrMT:5794-14876
GRCh38:
ChrMT:5794-14876
Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemiaLikely pathogenic
(Nov 4, 2014)
criteria provided, single submitter
2.
GRCh37:
ChrMT:6468-15586
GRCh38:
ChrMT:6468-15586
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
3.
GRCh37:
ChrMT:8839-14895
GRCh38:
ChrMT:8839-14895
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
4.
GRCh37:
ChrMT:10105-15066
GRCh38:
ChrMT:10105-15066
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
5.
GRCh37:
ChrMT:11263-15374
GRCh38:
ChrMT:11263-15374
MT-CYB, MT-ND4, MT-ND5, MT-ND6, MT-TS2, MT-TE, MT-TH, MT-TL2Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
6.
GRCh37:
ChrMT:12114-14420
GRCh38:
ChrMT:12114-14420
MT-ND4, MT-ND6, MT-TH, MT-TL2, MT-ND5, MT-TS2Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
7.
GRCh37:
ChrMT:14153
GRCh38:
ChrMT:14153
MT-ND6Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
8.
GRCh37:
ChrMT:14154
GRCh38:
ChrMT:14154
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
9.
GRCh37:
ChrMT:14162
GRCh38:
ChrMT:14162
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
10.
GRCh37:
ChrMT:14163
GRCh38:
ChrMT:14163
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
11.
GRCh37:
ChrMT:14178
GRCh38:
ChrMT:14178
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
12.
GRCh37:
ChrMT:14180
GRCh38:
ChrMT:14180
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
13.
GRCh37:
ChrMT:14180
GRCh38:
ChrMT:14180
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
14.
GRCh37:
ChrMT:14181
GRCh38:
ChrMT:14181
MT-ND6Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
15.
GRCh37:
ChrMT:14189
GRCh38:
ChrMT:14189
MT-ND6Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
16.
GRCh37:
ChrMT:14193
GRCh38:
ChrMT:14193
MT-ND6Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
17.
GRCh37:
ChrMT:14198
GRCh38:
ChrMT:14198
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
18.
GRCh37:
ChrMT:14199
GRCh38:
ChrMT:14199
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
19.
GRCh37:
ChrMT:14207
GRCh38:
ChrMT:14207
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
20.
GRCh37:
ChrMT:14210
GRCh38:
ChrMT:14210
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
21.
GRCh37:
ChrMT:14211
GRCh38:
ChrMT:14211
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
22.
GRCh37:
ChrMT:14225
GRCh38:
ChrMT:14225
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
23.
GRCh37:
ChrMT:14226
GRCh38:
ChrMT:14226
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
24.
GRCh37:
ChrMT:14231
GRCh38:
ChrMT:14231
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
25.
GRCh37:
ChrMT:14234
GRCh38:
ChrMT:14234
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
26.
GRCh37:
ChrMT:14243-14244
GRCh38:
ChrMT:14243-14244
MT-ND6Oxyphilic adenomaPathogenic
(Sep 15, 2011)
no assertion criteria provided
27.
GRCh37:
ChrMT:14249
GRCh38:
ChrMT:14249
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
28.
GRCh37:
ChrMT:14256
GRCh38:
ChrMT:14256
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
29.
GRCh37:
ChrMT:14258
GRCh38:
ChrMT:14258
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
30.
GRCh37:
ChrMT:14259
GRCh38:
ChrMT:14259
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
31.
GRCh37:
ChrMT:14276
GRCh38:
ChrMT:14276
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
32.
GRCh37:
ChrMT:14279
GRCh38:
ChrMT:14279
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
33.
GRCh37:
ChrMT:14280
GRCh38:
ChrMT:14280
MT-ND6Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
34.
GRCh37:
ChrMT:14280
GRCh38:
ChrMT:14280
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
35.
GRCh37:
ChrMT:14297
GRCh38:
ChrMT:14297
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
36.
GRCh37:
ChrMT:14301
GRCh38:
ChrMT:14301
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
37.
GRCh37:
ChrMT:14307
GRCh38:
ChrMT:14307
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
38.
GRCh37:
ChrMT:14312
GRCh38:
ChrMT:14312
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
39.
GRCh37:
ChrMT:14315
GRCh38:
ChrMT:14315
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
40.
GRCh37:
ChrMT:14318
GRCh38:
ChrMT:14318
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
41.
GRCh37:
ChrMT:14319
GRCh38:
ChrMT:14319
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
42.
GRCh37:
ChrMT:14325
GRCh38:
ChrMT:14325
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
43.
GRCh37:
ChrMT:14328
GRCh38:
ChrMT:14328
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
44.
GRCh37:
ChrMT:14334
GRCh38:
ChrMT:14334
MT-ND6Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
45.
GRCh37:
ChrMT:14339
GRCh38:
ChrMT:14339
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
46.
GRCh37:
ChrMT:14340
GRCh38:
ChrMT:14340
MT-ND6Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
47.
GRCh37:
ChrMT:14348
GRCh38:
ChrMT:14348
MT-ND6Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
48.
GRCh37:
ChrMT:14357
GRCh38:
ChrMT:14357
MT-ND6Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
49.
GRCh37:
ChrMT:14372
GRCh38:
ChrMT:14372
MT-ND6Acute megakaryoblastic leukemia, Mediastinal germ cell tumorUncertain significance
(Oct 22, 2015)
no assertion criteria provided
50.
GRCh37:
ChrMT:14375
GRCh38:
ChrMT:14375
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
51.
GRCh37:
ChrMT:14382
GRCh38:
ChrMT:14382
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
52.
GRCh37:
ChrMT:14384
GRCh38:
ChrMT:14384
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
53.
GRCh37:
ChrMT:14393
GRCh38:
ChrMT:14393
MT-ND6not provided, Leigh syndromeBenign/Likely benign
(Oct 17, 2019)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
ChrMT:14405
GRCh38:
ChrMT:14405
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
55.
GRCh37:
ChrMT:14417
GRCh38:
ChrMT:14417
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
56.
GRCh37:
ChrMT:14420
GRCh38:
ChrMT:14420
MT-ND6Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
57.
GRCh37:
ChrMT:14423
GRCh38:
ChrMT:14423
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
58.
GRCh37:
ChrMT:14433
GRCh38:
ChrMT:14433
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
59.
GRCh37:
ChrMT:14444
GRCh38:
ChrMT:14444
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
60.
GRCh37:
ChrMT:14453
GRCh38:
ChrMT:14453
MT-ND6Mitochondrial diseaseLikely pathogenic
(Jun 30, 2022)
reviewed by expert panel
FDA Recognized Database
61.
GRCh37:
ChrMT:14459
GRCh38:
ChrMT:14459
MT-ND6Mitochondrial diseasePathogenic
(Nov 1, 2021)
reviewed by expert panel
FDA Recognized Database
62.
GRCh37:
ChrMT:14462
GRCh38:
ChrMT:14462
MT-ND6Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
63.
GRCh37:
ChrMT:14465
GRCh38:
ChrMT:14465
MT-ND6Juvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely pathogenic
(Oct 17, 2019)
criteria provided, single submitter
64.
GRCh37:
ChrMT:14466
GRCh38:
ChrMT:14466
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
65.
GRCh37:
ChrMT:14468
GRCh38:
ChrMT:14468
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
66.
GRCh37:
ChrMT:14470
GRCh38:
ChrMT:14470
MT-ND6not providedLikely benign
(May 29, 2015)
criteria provided, single submitter
67.
GRCh37:
ChrMT:14476
GRCh38:
ChrMT:14476
MT-ND6not providedBenign
(Jan 3, 2017)
criteria provided, single submitter
68.
GRCh37:
ChrMT:14477
GRCh38:
ChrMT:14477
MT-ND6Abnormality of brain morphology, Constriction of peripheral visual field, Vertigo,
Muscle spasm, Paresthesia, Headache,
Cognitive impairment
Uncertain significance
(Jan 1, 2017)
criteria provided, single submitter
69.
GRCh37:
ChrMT:14482
GRCh38:
ChrMT:14482
MT-ND6Leber optic atrophynot providedno assertion provided
70.
GRCh37:
ChrMT:14482
GRCh38:
ChrMT:14482
MT-ND6Mitochondrial diseaseLikely pathogenic
(Jun 30, 2022)
reviewed by expert panel
FDA Recognized Database
71.
GRCh37:
ChrMT:14484
GRCh38:
ChrMT:14484
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
72.
GRCh37:
ChrMT:14484
GRCh38:
ChrMT:14484
MT-ND6not provided, Leber optic atrophyPathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
ChrMT:14487
GRCh38:
ChrMT:14487
MT-ND6Leigh syndrome, Leber optic atrophyPathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
ChrMT:14495
GRCh38:
ChrMT:14495
MT-ND6Mitochondrial diseaseLikely pathogenic
(Jun 30, 2022)
reviewed by expert panel
FDA Recognized Database
75.
GRCh37:
ChrMT:14498
GRCh38:
ChrMT:14498
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
76.
GRCh37:
ChrMT:14502
GRCh38:
ChrMT:14502
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
77.
GRCh37:
ChrMT:14512-14513
GRCh38:
ChrMT:14512-14513
MT-ND6Mitochondrial diseasePathogenic
(Dec 9, 2019)
criteria provided, single submitter
78.
GRCh37:
ChrMT:14514
GRCh38:
ChrMT:14514
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
79.
GRCh37:
ChrMT:14523
GRCh38:
ChrMT:14523
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
80.
GRCh37:
ChrMT:14529
GRCh38:
ChrMT:14529
MT-ND6Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
81.
GRCh37:
ChrMT:14544
GRCh38:
ChrMT:14544
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
82.
GRCh37:
ChrMT:14552
GRCh38:
ChrMT:14552
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
83.
GRCh37:
ChrMT:14553
GRCh38:
ChrMT:14553
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
84.
GRCh37:
ChrMT:14562
GRCh38:
ChrMT:14562
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
85.
GRCh37:
ChrMT:14563
GRCh38:
ChrMT:14563
MT-ND6Mitochondrial cytopathyUncertain significance
(Nov 21, 2016)
no assertion criteria provided
86.
GRCh37:
ChrMT:14564
GRCh38:
ChrMT:14564
MT-ND6Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
87.
GRCh37:
ChrMT:14568
GRCh38:
ChrMT:14568
MT-ND6Mitochondrial diseaseLikely pathogenic
(Jun 30, 2022)
reviewed by expert panel
FDA Recognized Database
88.
GRCh37:
ChrMT:14571
GRCh38:
ChrMT:14571
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
89.
GRCh37:
ChrMT:14573
GRCh38:
ChrMT:14573
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
90.
GRCh37:
ChrMT:14574
GRCh38:
ChrMT:14574
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
91.
GRCh37:
ChrMT:14576
GRCh38:
ChrMT:14576
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
92.
GRCh37:
ChrMT:14577
GRCh38:
ChrMT:14577
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
93.
GRCh37:
ChrMT:14577
GRCh38:
ChrMT:14577
MT-ND6Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
94.
GRCh37:
ChrMT:14582
GRCh38:
ChrMT:14582
MT-ND6Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
95.
GRCh37:
ChrMT:14596
GRCh38:
ChrMT:14596
MT-ND6Leber optic atrophy and dystoniaPathogenic
(Apr 1, 1996)
no assertion criteria provided
96.
GRCh37:
ChrMT:14597
GRCh38:
ChrMT:14597
MT-ND6not specified, Dystonic disorder, Dysarthria,
Leigh syndrome
Conflicting interpretations of pathogenicity
(May 4, 2022)
criteria provided, conflicting interpretations
97.
GRCh37:
ChrMT:14598
GRCh38:
ChrMT:14598
MT-ND6Leigh syndrome, Parkinsonism, Blindness
Conflicting interpretations of pathogenicity
(Oct 17, 2019)
criteria provided, conflicting interpretations
98.
GRCh37:
ChrMT:14601
GRCh38:
ChrMT:14601
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
99.
GRCh37:
ChrMT:14615
GRCh38:
ChrMT:14615
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
100.
GRCh37:
ChrMT:14619
GRCh38:
ChrMT:14619
MT-ND6Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
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