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Items: 1 to 100 of 314

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
ChrMT:5782-13922
GRCh38:
ChrMT:5782-13922
M1fsPrimary dilated cardiomyopathy, Macrocytic dyserythropoietic anemiaLikely pathogenic
(Nov 4, 2014)
criteria provided, single submitterVCV000209212
2.
GRCh37:
ChrMT:5794-14876
GRCh38:
ChrMT:5794-14876
M1fsPrimary dilated cardiomyopathy, Macrocytic dyserythropoietic anemiaLikely pathogenic
(Nov 4, 2014)
criteria provided, single submitterVCV000209213
3.
GRCh37:
ChrMT:6468-15586
GRCh38:
ChrMT:6468-15586
I190fs, M1fsMitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria providedVCV000430675
4.
GRCh37:
ChrMT:7126-13988
GRCh38:
ChrMT:7126-13988
M1fs, Y409fsMitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria providedVCV000430676
5.
GRCh37:
ChrMT:8290-13040
GRCh38:
ChrMT:8290-13040
M1fsMitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria providedVCV000430678
6.
GRCh37:
ChrMT:8350-13450
GRCh38:
ChrMT:8350-13450
M1fsPearson syndromePathogenic
(Jun 12, 2019)
no assertion criteria providedVCV000638147
7.
GRCh37:
ChrMT:8470-13446
GRCh38:
ChrMT:8470-13446
Mitochondrial disease, Kearns Sayre syndromePathogenic
(Jan 31, 2019)
no assertion criteria providedVCV000430680
8.
GRCh37:
ChrMT:8480-13440
GRCh38:
ChrMT:8480-13440
M1fs, P39fsPearson syndromePathogenic
(Jun 12, 2019)
no assertion criteria providedVCV000638146
9.
GRCh37:
ChrMT:8585-12965
GRCh38:
ChrMT:8585-12965
M1fs, N2fs, V21fsMitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria providedVCV000430681
10.
GRCh37:
ChrMT:8815-13722
GRCh38:
ChrMT:8815-13722
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria providedVCV000430682
11.
GRCh37:
ChrMT:8839-14895
GRCh38:
ChrMT:8839-14895
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria providedVCV000430683
12.
GRCh37:
ChrMT:10105-15066
GRCh38:
ChrMT:10105-15066
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria providedVCV000430684
13.
GRCh37:
ChrMT:11263-15374
GRCh38:
ChrMT:11263-15374
MT-TE, MT-TH, MT-TL2, MT-ND5, MT-ND6, MT-CYB, MT-ND4, MT-TS2H168fs, M1fsMitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria providedVCV000430685
14.
GRCh37:
ChrMT:12114-14420
GRCh38:
ChrMT:12114-14420
MT-TS2, MT-ND5, MT-ND6, MT-TH, MT-TL2, MT-ND4Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria providedVCV000430686
15.
GRCh37:
ChrMT:12338
GRCh38:
ChrMT:12338
MT-ND5M1TLeigh syndrome, Leber optic atrophyBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000029999
16.
GRCh37:
ChrMT:12340
GRCh38:
ChrMT:12340
MT-ND5T2ALeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693419
17.
GRCh37:
ChrMT:12341
GRCh38:
ChrMT:12341
MT-ND5T2ILeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693420
18.
GRCh37:
ChrMT:12344
GRCh38:
ChrMT:12344
MT-ND5M3TLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693421
19.
GRCh37:
ChrMT:12346
GRCh38:
ChrMT:12346
MT-ND5H4YLeigh syndrome, not providedBenign/Likely benign
(Oct 17, 2019)
criteria provided, multiple submitters, no conflictsVCV000445363
20.
GRCh37:
ChrMT:12349
GRCh38:
ChrMT:12349
MT-ND5T5ALeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693422
21.
GRCh37:
ChrMT:12352
GRCh38:
ChrMT:12352
MT-ND5T6ALeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693423
22.
GRCh37:
ChrMT:12358
GRCh38:
ChrMT:12358
MT-ND5T8ALeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693424
23.
GRCh37:
ChrMT:12361
GRCh38:
ChrMT:12361
MT-ND5T9ALeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693425
24.
GRCh37:
ChrMT:12362
GRCh38:
ChrMT:12362
MT-ND5T9ILeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693426
25.
GRCh37:
ChrMT:12367
GRCh38:
ChrMT:12367
MT-ND5T11ALeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693427
26.
GRCh37:
ChrMT:12372
GRCh38:
ChrMT:12372
MT-ND5Mitochondrial diseaseLikely pathogenic
(Dec 3, 2017)
criteria provided, single submitterVCV000522717
27.
GRCh37:
ChrMT:12373
GRCh38:
ChrMT:12373
MT-ND5T13ALeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693428
28.
GRCh37:
ChrMT:12382
GRCh38:
ChrMT:12382
MT-ND5I16VLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693429
29.
GRCh37:
ChrMT:12383
GRCh38:
ChrMT:12383
MT-ND5I16TLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693430
30.
GRCh37:
ChrMT:12386
GRCh38:
ChrMT:12386
MT-ND5P17LLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693431
31.
GRCh37:
ChrMT:12389
GRCh38:
ChrMT:12389
MT-ND5P18LLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693432
32.
GRCh37:
ChrMT:12397
GRCh38:
ChrMT:12397
MT-ND5T21ALeigh syndrome, Parkinson disease 6, autosomal recessive early-onsetBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000009705
33.
GRCh37:
ChrMT:12400
GRCh38:
ChrMT:12400
MT-ND5T22ALeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693433
34.
GRCh37:
ChrMT:12401
GRCh38:
ChrMT:12401
MT-ND5T22ILeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693434
35.
GRCh37:
ChrMT:12403
GRCh38:
ChrMT:12403
MT-ND5L23FLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693435
36.
GRCh37:
ChrMT:12406
GRCh38:
ChrMT:12406
MT-ND5V24ILeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693436
37.
GRCh37:
ChrMT:12410
GRCh38:
ChrMT:12410
MT-ND5N25SLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693437
38.
GRCh37:
ChrMT:12418
GRCh38:
ChrMT:12418
MT-ND5N30fsMitochondrial myopathy, infantile, transientPathogenic
(Oct 17, 2019)
criteria provided, single submitterVCV000693440
39.
GRCh37:
ChrMT:12424
GRCh38:
ChrMT:12424
MT-ND5N30DLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693438
40.
GRCh37:
ChrMT:12425
GRCh38:
ChrMT:12425
MT-ND5N30SLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693439
41.
GRCh37:
ChrMT:12426
GRCh38:
ChrMT:12426
MT-ND5N30KLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693441
42.
GRCh37:
ChrMT:12432
GRCh38:
ChrMT:12432
MT-ND5not providedUncertain significance
(Dec 22, 2015)
criteria provided, single submitterVCV000235471
43.
GRCh37:
ChrMT:12436
GRCh38:
ChrMT:12436
MT-ND5H34YLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693442
44.
GRCh37:
ChrMT:12437
GRCh38:
ChrMT:12437
MT-ND5H34RLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693443
45.
GRCh37:
ChrMT:12448
GRCh38:
ChrMT:12448
MT-ND5S38PLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693445
46.
GRCh37:
ChrMT:12448
GRCh38:
ChrMT:12448
MT-ND5S38TLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693444
47.
GRCh37:
ChrMT:12451
GRCh38:
ChrMT:12451
MT-ND5I39VLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693446
48.
GRCh37:
ChrMT:12454
GRCh38:
ChrMT:12454
MT-ND5V40ILeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693447
49.
GRCh37:
ChrMT:12457
GRCh38:
ChrMT:12457
MT-ND5A41TLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693448
50.
GRCh37:
ChrMT:12458
GRCh38:
ChrMT:12458
MT-ND5A41VLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693449
51.
GRCh37:
ChrMT:12479
GRCh38:
ChrMT:12479
MT-ND5L48PLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693450
52.
GRCh37:
ChrMT:12481
GRCh38:
ChrMT:12481
MT-ND5F49ILeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693452
53.
GRCh37:
ChrMT:12481
GRCh38:
ChrMT:12481
MT-ND5F49LLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693451
54.
GRCh37:
ChrMT:12490
GRCh38:
ChrMT:12490
MT-ND5T52ALeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693453
55.
GRCh37:
ChrMT:12493
GRCh38:
ChrMT:12493
MT-ND5M53Vnot providedUncertain significance
(Apr 11, 2017)
criteria provided, single submitterVCV000446034
56.
GRCh37:
ChrMT:12499
GRCh38:
ChrMT:12499
MT-ND5M55Vnot providednot providedno assertion providedVCV000918027
57.
GRCh37:
ChrMT:12501
GRCh38:
ChrMT:12501
MT-ND5M55ILeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693454
58.
GRCh37:
ChrMT:12509
GRCh38:
ChrMT:12509
MT-ND5D58GLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693455
59.
GRCh37:
ChrMT:12512
GRCh38:
ChrMT:12512
MT-ND5Q59LLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693456
60.
GRCh37:
ChrMT:12520
GRCh38:
ChrMT:12520
MT-ND5I62VLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693457
61.
GRCh37:
ChrMT:12530
GRCh38:
ChrMT:12530
MT-ND5N65SLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693458
62.
GRCh37:
ChrMT:12535
GRCh38:
ChrMT:12535
MT-ND5H67Ynot specified, Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000235010
63.
GRCh37:
ChrMT:12542
GRCh38:
ChrMT:12542
MT-ND5A69VLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693459
64.
GRCh37:
ChrMT:12544
GRCh38:
ChrMT:12544
MT-ND5T70AMitochondrial disease, Leigh syndromeUncertain significance
(Dec 10, 2021)
reviewed by expert panel
FDA Recognized Database
VCV000693460
65.
GRCh37:
ChrMT:12545
GRCh38:
ChrMT:12545
MT-ND5T70MLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693461
66.
GRCh37:
ChrMT:12556
GRCh38:
ChrMT:12556
MT-ND5T74ALeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693462
67.
GRCh37:
ChrMT:12557
GRCh38:
ChrMT:12557
MT-ND5T74ILeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693463
68.
GRCh37:
ChrMT:12560
GRCh38:
ChrMT:12560
MT-ND5Q75RLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693464
69.
GRCh37:
ChrMT:12561
GRCh38:
ChrMT:12561
MT-ND5Q75HLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693465
70.
GRCh37:
ChrMT:12587
GRCh38:
ChrMT:12587
MT-ND5Y84CLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693466
71.
GRCh37:
ChrMT:12599
GRCh38:
ChrMT:12599
MT-ND5M88TLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693467
72.
GRCh37:
ChrMT:12601
GRCh38:
ChrMT:12601
MT-ND5F89LLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693468
73.
GRCh37:
ChrMT:12613
GRCh38:
ChrMT:12613
MT-ND5A93SLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693469
74.
GRCh37:
ChrMT:12622
GRCh38:
ChrMT:12622
MT-ND5V96ILeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693470
75.
GRCh37:
ChrMT:12631
GRCh38:
ChrMT:12631
MT-ND5S99PLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693471
76.
GRCh37:
ChrMT:12634
GRCh38:
ChrMT:12634
MT-ND5I100VLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693472
77.
GRCh37:
ChrMT:12661
GRCh38:
ChrMT:12661
MT-ND5N109YLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693473
78.
GRCh37:
ChrMT:12662
GRCh38:
ChrMT:12662
MT-ND5N109SLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693474
79.
GRCh37:
ChrMT:12673
GRCh38:
ChrMT:12673
MT-ND5N113DLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693475
80.
GRCh37:
ChrMT:12674
GRCh38:
ChrMT:12674
MT-ND5N113SLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693476
81.
GRCh37:
ChrMT:12681
GRCh38:
ChrMT:12681
MT-ND5not providedLikely benign
(Aug 12, 2015)
criteria provided, single submitterVCV000235613
82.
GRCh37:
ChrMT:12706
GRCh38:
ChrMT:12706
MT-ND5F124LLeigh syndrome due to mitochondrial complex I deficiency, Leigh syndromeLikely pathogenic
(Oct 17, 2019)
criteria provided, single submitterVCV000009698
83.
GRCh37:
ChrMT:12713
GRCh38:
ChrMT:12713
MT-ND5I126TLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693477
84.
GRCh37:
ChrMT:12715
GRCh38:
ChrMT:12715
MT-ND5T127ALeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693478
85.
GRCh37:
ChrMT:12730
GRCh38:
ChrMT:12730
MT-ND5V132ILeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693479
86.
GRCh37:
ChrMT:12743
GRCh38:
ChrMT:12743
MT-ND5N136SLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693480
87.
GRCh37:
ChrMT:12757
GRCh38:
ChrMT:12757
MT-ND5F141LLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693481
88.
GRCh37:
ChrMT:12770
GRCh38:
ChrMT:12770
MT-ND5E145GJuvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(Jan 1, 2003)
no assertion criteria providedVCV000009699
89.
GRCh37:
ChrMT:12775
GRCh38:
ChrMT:12775
MT-ND5V147MLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693482
90.
GRCh37:
ChrMT:12797
GRCh38:
ChrMT:12797
MT-ND5L154PLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693483
91.
GRCh37:
ChrMT:12799
GRCh38:
ChrMT:12799
MT-ND5I155VLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693484
92.
GRCh37:
ChrMT:12810
GRCh38:
ChrMT:12810
MT-ND5not providedLikely benign
(Aug 12, 2015)
criteria provided, single submitterVCV000235499
93.
GRCh37:
ChrMT:12811
GRCh38:
ChrMT:12811
MT-ND5Y159HLeber optic atrophy, not provided, Leigh syndrome
Conflicting interpretations of pathogenicity
(Oct 17, 2019)
criteria provided, conflicting interpretationsVCV000065510
94.
GRCh37:
ChrMT:12814
GRCh38:
ChrMT:12814
MT-ND5A160TLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693485
95.
GRCh37:
ChrMT:12820
GRCh38:
ChrMT:12820
MT-ND5A162TLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693486
96.
GRCh37:
ChrMT:12835
GRCh38:
ChrMT:12835
MT-ND5A167TLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693487
97.
GRCh37:
ChrMT:12836
GRCh38:
ChrMT:12836
MT-ND5A167VLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693488
98.
GRCh37:
ChrMT:12842
GRCh38:
ChrMT:12842
MT-ND5I169TLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693489
99.
GRCh37:
ChrMT:12848
GRCh38:
ChrMT:12848
MT-ND5A171VLeber optic atrophyPathogenic
(Mar 3, 2021)
no assertion criteria providedVCV000009704
100.
GRCh37:
ChrMT:12850
GRCh38:
ChrMT:12850
MT-ND5I172VLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693490
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