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Items: 1 to 100 of 226

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrMT:5782-13922
GRCh38:
ChrMT:5782-13922
Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemiaLikely pathogenic
(Nov 4, 2014)
criteria provided, single submitter
2.
GRCh37:
ChrMT:5794-14876
GRCh38:
ChrMT:5794-14876
Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemiaLikely pathogenic
(Nov 4, 2014)
criteria provided, single submitter
3.
GRCh37:
ChrMT:5907
GRCh38:
ChrMT:5907
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
4.
GRCh37:
ChrMT:5910
GRCh38:
ChrMT:5910
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
5.
GRCh37:
ChrMT:5911
GRCh38:
ChrMT:5911
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
6.
GRCh37:
ChrMT:5913
GRCh38:
ChrMT:5913
MT-CO1Leigh syndrome, not specifiedBenign
(Jul 27, 2020)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
ChrMT:5918
GRCh38:
ChrMT:5918
MT-CO1not providedBenign
(Jul 12, 2019)
criteria provided, single submitter
8.
GRCh37:
ChrMT:5920
GRCh38:
ChrMT:5920
MT-CO1Myoglobinuria, recurrentPathogenic
(Sep 12, 2000)
no assertion criteria provided
9.
GRCh37:
ChrMT:5951
GRCh38:
ChrMT:5951
MT-CO1not providedBenign/Likely benign
(May 25, 2018)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
ChrMT:5954
GRCh38:
ChrMT:5954
MT-CO1Tetralogy of FallotPathogenicno assertion criteria provided
11.
GRCh37:
ChrMT:5961
GRCh38:
ChrMT:5961
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
12.
GRCh37:
ChrMT:5973
GRCh38:
ChrMT:5973
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
13.
GRCh37:
ChrMT:5979
GRCh38:
ChrMT:5979
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
14.
GRCh37:
ChrMT:5985
GRCh38:
ChrMT:5985
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
15.
GRCh37:
ChrMT:5999
GRCh38:
ChrMT:5999
MT-CO1not specifiedBenign
(Aug 24, 2020)
criteria provided, single submitter
16.
GRCh37:
ChrMT:6003-11220
GRCh38:
ChrMT:6003-11220
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
17.
GRCh37:
ChrMT:6012
GRCh38:
ChrMT:6012
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
18.
GRCh37:
ChrMT:6018
GRCh38:
ChrMT:6018
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
19.
GRCh37:
ChrMT:6026
GRCh38:
ChrMT:6026
MT-CO1not providedBenign
(Nov 16, 2018)
criteria provided, single submitter
20.
GRCh37:
ChrMT:6037
GRCh38:
ChrMT:6037
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
21.
GRCh37:
ChrMT:6040
GRCh38:
ChrMT:6040
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
22.
GRCh37:
ChrMT:6047
GRCh38:
ChrMT:6047
MT-CO1not specifiedBenign
(Aug 27, 2020)
criteria provided, single submitter
23.
GRCh37:
ChrMT:6048
GRCh38:
ChrMT:6048
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
24.
GRCh37:
ChrMT:6052
GRCh38:
ChrMT:6052
MT-CO1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
25.
GRCh37:
ChrMT:6054
GRCh38:
ChrMT:6054
MT-CO1not providedUncertain significance
(Mar 5, 2018)
criteria provided, single submitter
26.
GRCh37:
ChrMT:6060
GRCh38:
ChrMT:6060
MT-CO1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
27.
GRCh37:
ChrMT:6060
GRCh38:
ChrMT:6060
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
28.
GRCh37:
ChrMT:6061
GRCh38:
ChrMT:6061
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
29.
GRCh37:
ChrMT:6071
GRCh38:
ChrMT:6071
MT-CO1not providedBenign/Likely benign
(May 25, 2018)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
ChrMT:6072
GRCh38:
ChrMT:6072
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
31.
GRCh37:
ChrMT:6075
GRCh38:
ChrMT:6075
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
32.
GRCh37:
ChrMT:6081
GRCh38:
ChrMT:6081
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
33.
GRCh37:
ChrMT:6081
GRCh38:
ChrMT:6081
MT-CO1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
34.
GRCh37:
ChrMT:6093
GRCh38:
ChrMT:6093
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
35.
GRCh37:
ChrMT:6109
GRCh38:
ChrMT:6109
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
36.
GRCh37:
ChrMT:6120
GRCh38:
ChrMT:6120
MT-CO1not provided, Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
ChrMT:6121
GRCh38:
ChrMT:6121
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
38.
GRCh37:
ChrMT:6126
GRCh38:
ChrMT:6126
MT-CO1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
39.
GRCh37:
ChrMT:6132
GRCh38:
ChrMT:6132
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
40.
GRCh37:
ChrMT:6145
GRCh38:
ChrMT:6145
MT-CO1Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyLikely pathogenic
(Oct 17, 2019)
criteria provided, single submitter
41.
GRCh37:
ChrMT:6150
GRCh38:
ChrMT:6150
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
42.
GRCh37:
ChrMT:6174
GRCh38:
ChrMT:6174
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
43.
GRCh37:
ChrMT:6228
GRCh38:
ChrMT:6228
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
44.
GRCh37:
ChrMT:6237
GRCh38:
ChrMT:6237
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
45.
GRCh37:
ChrMT:6243
GRCh38:
ChrMT:6243
MT-CO1not providednot providedno assertion provided
46.
GRCh37:
ChrMT:6249
GRCh38:
ChrMT:6249
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
47.
GRCh37:
ChrMT:6252
GRCh38:
ChrMT:6252
MT-CO1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
48.
GRCh37:
ChrMT:6253
GRCh38:
ChrMT:6253
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
49.
GRCh37:
ChrMT:6254
GRCh38:
ChrMT:6254
MT-CO1not providedLikely benign
(Aug 10, 2020)
criteria provided, single submitter
50.
GRCh37:
ChrMT:6258
GRCh38:
ChrMT:6258
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
51.
GRCh37:
ChrMT:6260
GRCh38:
ChrMT:6260
MT-CO1not providedBenign/Likely benign
(Mar 22, 2019)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
ChrMT:6261
GRCh38:
ChrMT:6261
MT-CO1not provided, Leigh syndromeBenign/Likely benign
(Oct 17, 2019)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
ChrMT:6264
GRCh38:
ChrMT:6264
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
54.
GRCh37:
ChrMT:6267
GRCh38:
ChrMT:6267
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
55.
GRCh37:
ChrMT:6273
GRCh38:
ChrMT:6273
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
56.
GRCh37:
ChrMT:6277
GRCh38:
ChrMT:6277
MT-CO1Familial colorectal cancerPathogenic
(Mar 3, 2009)
no assertion criteria provided
57.
GRCh37:
ChrMT:6278
GRCh38:
ChrMT:6278
MT-CO1not providedLikely benign
(Jun 15, 2017)
criteria provided, single submitter
58.
GRCh37:
ChrMT:6285
GRCh38:
ChrMT:6285
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
59.
GRCh37:
ChrMT:6286
GRCh38:
ChrMT:6286
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
60.
GRCh37:
ChrMT:6289
GRCh38:
ChrMT:6289
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
61.
GRCh37:
ChrMT:6299
GRCh38:
ChrMT:6299
MT-CO1not providedUncertain significance
(Jan 4, 2017)
criteria provided, single submitter
62.
GRCh37:
ChrMT:6307
GRCh38:
ChrMT:6307
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
63.
GRCh37:
ChrMT:6324
GRCh38:
ChrMT:6324
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
64.
GRCh37:
ChrMT:6328
GRCh38:
ChrMT:6328
MT-CO1Cytochrome c oxidase I deficiencyPathogenic
(Mar 1, 2006)
no assertion criteria provided
65.
GRCh37:
ChrMT:6339
GRCh38:
ChrMT:6339
MT-CO1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
66.
GRCh37:
ChrMT:6340
GRCh38:
ChrMT:6340
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
67.
GRCh37:
ChrMT:6345
GRCh38:
ChrMT:6345
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
68.
GRCh37:
ChrMT:6353
GRCh38:
ChrMT:6353
MT-CO1not providedBenign
(Oct 12, 2018)
criteria provided, single submitter
69.
GRCh37:
ChrMT:6358
GRCh38:
ChrMT:6358
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
70.
GRCh37:
ChrMT:6366
GRCh38:
ChrMT:6366
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
71.
GRCh37:
ChrMT:6366
GRCh38:
ChrMT:6366
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
72.
GRCh37:
ChrMT:6367
GRCh38:
ChrMT:6367
MT-CO1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
73.
GRCh37:
ChrMT:6393
GRCh38:
ChrMT:6393
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
74.
GRCh37:
ChrMT:6420
GRCh38:
ChrMT:6420
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
75.
GRCh37:
ChrMT:6445
GRCh38:
ChrMT:6445
MT-CO1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
76.
GRCh37:
ChrMT:6446
GRCh38:
ChrMT:6446
MT-CO1not providedBenign
(Feb 18, 2019)
criteria provided, single submitter
77.
GRCh37:
ChrMT:6456
GRCh38:
ChrMT:6456
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
78.
GRCh37:
ChrMT:6465
GRCh38:
ChrMT:6465
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
79.
GRCh37:
ChrMT:6468-15586
GRCh38:
ChrMT:6468-15586
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
80.
GRCh37:
ChrMT:6480
GRCh38:
ChrMT:6480
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
81.
GRCh37:
ChrMT:6481
GRCh38:
ChrMT:6481
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
82.
GRCh37:
ChrMT:6489
GRCh38:
ChrMT:6489
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
83.
GRCh37:
ChrMT:6497
GRCh38:
ChrMT:6497
MT-CO1not specifiedBenign
(Apr 14, 2020)
criteria provided, single submitter
84.
GRCh37:
ChrMT:6504
GRCh38:
ChrMT:6504
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
85.
GRCh37:
ChrMT:6505
GRCh38:
ChrMT:6505
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
86.
GRCh37:
ChrMT:6510
GRCh38:
ChrMT:6510
MT-CO1Leigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitter
87.
GRCh37:
ChrMT:6520
GRCh38:
ChrMT:6520
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
88.
GRCh37:
ChrMT:6526
GRCh38:
ChrMT:6526
MT-CO1Leigh syndromeLikely pathogenic
(Oct 17, 2019)
criteria provided, single submitter
89.
GRCh37:
ChrMT:6546
GRCh38:
ChrMT:6546
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
90.
GRCh37:
ChrMT:6550
GRCh38:
ChrMT:6550
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
91.
GRCh37:
ChrMT:6554
GRCh38:
ChrMT:6554
MT-CO1not providedUncertain significance
(Nov 4, 2014)
criteria provided, single submitter
92.
GRCh37:
ChrMT:6564
GRCh38:
ChrMT:6564
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
93.
GRCh37:
ChrMT:6570
GRCh38:
ChrMT:6570
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
94.
GRCh37:
ChrMT:6608
GRCh38:
ChrMT:6608
MT-CO1Abnormal mitral valve physiologyPathogenicno assertion criteria provided
95.
GRCh37:
ChrMT:6626
GRCh38:
ChrMT:6626
MT-CO1not providedLikely benign
(Jul 2, 2019)
criteria provided, single submitter
96.
GRCh37:
ChrMT:6642
GRCh38:
ChrMT:6642
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
97.
GRCh37:
ChrMT:6663
GRCh38:
ChrMT:6663
MT-CO1Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitter
98.
GRCh37:
ChrMT:6664
GRCh38:
ChrMT:6664
MT-CO1Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
99.
GRCh37:
ChrMT:6671
GRCh38:
ChrMT:6671
MT-CO1not providedBenign
(Feb 19, 2019)
criteria provided, single submitter
100.
GRCh37:
ChrMT:6673
GRCh38:
ChrMT:6673
MT-CO1Abnormal mitral valve physiologyLikely pathogenicno assertion criteria provided
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