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Items: 1 to 100 of 107

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
ChrMT:5794-14876
GRCh38:
ChrMT:5794-14876
M1fsPrimary dilated cardiomyopathy, Macrocytic dyserythropoietic anemiaLikely pathogenic
(Nov 4, 2014)
criteria provided, single submitterVCV000209213
2.
GRCh37:
ChrMT:6468-15586
GRCh38:
ChrMT:6468-15586
I190fs, M1fsMitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria providedVCV000430675
3.
GRCh37:
ChrMT:8839-14895
GRCh38:
ChrMT:8839-14895
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria providedVCV000430683
4.
GRCh37:
ChrMT:10105-15066
GRCh38:
ChrMT:10105-15066
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria providedVCV000430684
5.
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
6.
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
7.
GRCh37:
ChrMT:14153
GRCh38:
ChrMT:14153
MT-ND6N174SLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693678
8.
GRCh37:
ChrMT:14154
GRCh38:
ChrMT:14154
MT-ND6N174HLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693679
9.
GRCh37:
ChrMT:14162
GRCh38:
ChrMT:14162
MT-ND6A171VLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693680
10.
GRCh37:
ChrMT:14163
GRCh38:
ChrMT:14163
MT-ND6A171TLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693681
11.
GRCh37:
ChrMT:14178
GRCh38:
ChrMT:14178
MT-ND6I166VLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693682
12.
GRCh37:
ChrMT:14180
GRCh38:
ChrMT:14180
MT-ND6Y165CLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693684
13.
GRCh37:
ChrMT:14180
GRCh38:
ChrMT:14180
MT-ND6Y165SLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693683
14.
GRCh37:
ChrMT:14181
GRCh38:
ChrMT:14181
MT-ND6Y165HLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693685
15.
GRCh37:
ChrMT:14189
GRCh38:
ChrMT:14189
MT-ND6V162ALeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693686
16.
GRCh37:
ChrMT:14193
GRCh38:
ChrMT:14193
MT-ND6F161LLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693687
17.
GRCh37:
ChrMT:14198
GRCh38:
ChrMT:14198
MT-ND6T159MLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693688
18.
GRCh37:
ChrMT:14199
GRCh38:
ChrMT:14199
MT-ND6T159ALeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693689
19.
GRCh37:
ChrMT:14207
GRCh38:
ChrMT:14207
MT-ND6T156ILeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693690
20.
GRCh37:
ChrMT:14210
GRCh38:
ChrMT:14210
MT-ND6V155ALeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693691
21.
GRCh37:
ChrMT:14211
GRCh38:
ChrMT:14211
MT-ND6V155ILeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693692
22.
GRCh37:
ChrMT:14225
GRCh38:
ChrMT:14225
MT-ND6R150HLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693693
23.
GRCh37:
ChrMT:14226
GRCh38:
ChrMT:14226
MT-ND6R150CLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693694
24.
GRCh37:
ChrMT:14231
GRCh38:
ChrMT:14231
MT-ND6Y148CLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693695
25.
GRCh37:
ChrMT:14234
GRCh38:
ChrMT:14234
MT-ND6D147GLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693696
26.
GRCh37:
ChrMT:14243-14244
GRCh38:
ChrMT:14243-14244
MT-ND6L145fsOxyphilic adenomaPathogenic
(Sep 15, 2011)
no assertion criteria providedVCV000224776
27.
GRCh37:
ChrMT:14249
GRCh38:
ChrMT:14249
MT-ND6A142VLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693697
28.
GRCh37:
ChrMT:14256
GRCh38:
ChrMT:14256
MT-ND6I140VLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693698
29.
GRCh37:
ChrMT:14258
GRCh38:
ChrMT:14258
MT-ND6P139LLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693699
30.
GRCh37:
ChrMT:14259
GRCh38:
ChrMT:14259
MT-ND6P139SLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693700
31.
GRCh37:
ChrMT:14276
GRCh38:
ChrMT:14276
MT-ND6G133ELeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693701
32.
GRCh37:
ChrMT:14279
GRCh38:
ChrMT:14279
MT-ND6S132LLeber optic atrophy, Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000065516
33.
GRCh37:
ChrMT:14280
GRCh38:
ChrMT:14280
MT-ND6S132ALeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693703
34.
GRCh37:
ChrMT:14280
GRCh38:
ChrMT:14280
MT-ND6S132PLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693702
35.
GRCh37:
ChrMT:14297
GRCh38:
ChrMT:14297
MT-ND6I126TLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693704
36.
GRCh37:
ChrMT:14301
GRCh38:
ChrMT:14301
MT-ND6M125VLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693705
37.
GRCh37:
ChrMT:14307
GRCh38:
ChrMT:14307
MT-ND6S123GLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693706
38.
GRCh37:
ChrMT:14312
GRCh38:
ChrMT:14312
MT-ND6V121ALeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693707
39.
GRCh37:
ChrMT:14315
GRCh38:
ChrMT:14315
MT-ND6S120NLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693708
40.
GRCh37:
ChrMT:14318
GRCh38:
ChrMT:14318
MT-ND6N119SLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693709
41.
GRCh37:
ChrMT:14319
GRCh38:
ChrMT:14319
MT-ND6N119DLeigh syndrome, Parkinson disease 6, autosomal recessive early-onsetBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000009695
42.
GRCh37:
ChrMT:14325
GRCh38:
ChrMT:14325
MT-ND6N117DLeber optic atrophy, Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000065512
43.
GRCh37:
ChrMT:14328
GRCh38:
ChrMT:14328
MT-ND6V116MLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693710
44.
GRCh37:
ChrMT:14334
GRCh38:
ChrMT:14334
MT-ND6V114ILeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693711
45.
GRCh37:
ChrMT:14339
GRCh38:
ChrMT:14339
MT-ND6V112ALeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693712
46.
GRCh37:
ChrMT:14340
GRCh38:
ChrMT:14340
MT-ND6V112MLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693713
47.
GRCh37:
ChrMT:14348
GRCh38:
ChrMT:14348
MT-ND6Y109CLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693714
48.
GRCh37:
ChrMT:14357
GRCh38:
ChrMT:14357
MT-ND6V106ALeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693715
49.
GRCh37:
ChrMT:14372
GRCh38:
ChrMT:14372
MT-ND6G101VAcute megakaryoblastic leukemia, Mediastinal germ cell tumorUncertain significance
(Oct 22, 2015)
no assertion criteria providedVCV000218344
50.
GRCh37:
ChrMT:14375
GRCh38:
ChrMT:14375
MT-ND6V100GLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693716
51.
GRCh37:
ChrMT:14382
GRCh38:
ChrMT:14382
MT-ND6M98LLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693717
52.
GRCh37:
ChrMT:14384
GRCh38:
ChrMT:14384
MT-ND6A97VLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693718
53.
GRCh37:
ChrMT:14393
GRCh38:
ChrMT:14393
MT-ND6V94ALeigh syndrome, not providedBenign/Likely benign
(Oct 17, 2019)
criteria provided, multiple submitters, no conflictsVCV000235743
54.
GRCh37:
ChrMT:14405
GRCh38:
ChrMT:14405
MT-ND6V90ALeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693719
55.
GRCh37:
ChrMT:14417
GRCh38:
ChrMT:14417
MT-ND6V86ALeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693720
56.
GRCh37:
ChrMT:14420
GRCh38:
ChrMT:14420
MT-ND6G85ELeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693721
57.
GRCh37:
ChrMT:14423
GRCh38:
ChrMT:14423
MT-ND6S84LLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693722
58.
GRCh37:
ChrMT:14433
GRCh38:
ChrMT:14433
MT-ND6A81TLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693723
59.
GRCh37:
ChrMT:14444
GRCh38:
ChrMT:14444
MT-ND6E77GLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693724
60.
GRCh37:
ChrMT:14453
GRCh38:
ChrMT:14453
MT-ND6A74VLeigh syndrome, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely pathogenic
(Oct 17, 2019)
criteria provided, single submitterVCV000009692
61.
GRCh37:
ChrMT:14459
GRCh38:
ChrMT:14459
MT-ND6A72VLeigh syndrome, Leigh syndrome due to mitochondrial complex I deficiency, Leber optic atrophy and dystonia,
Mitochondrial disease, Leber optic atrophy
Pathogenic
(Nov 1, 2021)
reviewed by expert panel
FDA Recognized Database
VCV000009689
62.
GRCh37:
ChrMT:14462
GRCh38:
ChrMT:14462
MT-ND6T71MLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693725
63.
GRCh37:
ChrMT:14465
GRCh38:
ChrMT:14465
MT-ND6T70IJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely pathogenic
(Oct 17, 2019)
criteria provided, single submitterVCV000693726
64.
GRCh37:
ChrMT:14466
GRCh38:
ChrMT:14466
MT-ND6T70ALeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693727
65.
GRCh37:
ChrMT:14468
GRCh38:
ChrMT:14468
MT-ND6Y69CLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693728
66.
GRCh37:
ChrMT:14470
GRCh38:
ChrMT:14470
MT-ND6not providedLikely benign
(May 29, 2015)
criteria provided, single submitterVCV000235574
67.
GRCh37:
ChrMT:14476
GRCh38:
ChrMT:14476
MT-ND6not providedBenign
(Jan 3, 2017)
criteria provided, single submitterVCV000376998
68.
GRCh37:
ChrMT:14477
GRCh38:
ChrMT:14477
MT-ND6V66AMuscle spasm, Paresthesia, Vertigo,
Constriction of peripheral visual field, Headache, Abnormality of brain morphology,
Cognitive impairment
Uncertain significance
(Jan 1, 2017)
criteria provided, single submitterVCV000523306
69.
GRCh37:
ChrMT:14482
GRCh38:
ChrMT:14482
MT-ND6M64ILeber optic atrophyPathogenic
(Mar 3, 2021)
no assertion criteria providedVCV000065513
70.
GRCh37:
ChrMT:14482
GRCh38:
ChrMT:14482
MT-ND6M64ILeber optic atrophyPathogenic
(Mar 3, 2021)
no assertion criteria providedVCV000009693
71.
GRCh37:
ChrMT:14484
GRCh38:
ChrMT:14484
MT-ND6M64LLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693729
72.
GRCh37:
ChrMT:14484
GRCh38:
ChrMT:14484
MT-ND6M64VLeber optic atrophy, not provided, Leigh syndrome
Pathogenic
(Aug 25, 2021)
criteria provided, multiple submitters, no conflictsVCV000009688
73.
GRCh37:
ChrMT:14487
GRCh38:
ChrMT:14487
MT-ND6M63VLeigh syndrome, Leigh syndrome due to mitochondrial complex I deficiency, Striatal necrosis, bilateral, with dystonia
Pathogenic
(Oct 17, 2019)
criteria provided, single submitterVCV000009694
74.
GRCh37:
ChrMT:14495
GRCh38:
ChrMT:14495
MT-ND6L60SLeber optic atrophyPathogenic
(Mar 3, 2021)
no assertion criteria providedVCV000009691
75.
GRCh37:
ChrMT:14498
GRCh38:
ChrMT:14498
MT-ND6Y59CLeber optic atrophy, Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000065514
76.
GRCh37:
ChrMT:14502
GRCh38:
ChrMT:14502
MT-ND6I58VLeber optic atrophy, Leigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000690281
77.
GRCh37:
ChrMT:14512-14513
GRCh38:
ChrMT:14512-14513
MT-ND6M54fsMitochondrial diseasePathogenic
(Dec 9, 2019)
criteria provided, single submitterVCV000800503
78.
GRCh37:
ChrMT:14514
GRCh38:
ChrMT:14514
MT-ND6M54VLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693730
79.
GRCh37:
ChrMT:14523
GRCh38:
ChrMT:14523
MT-ND6M51VLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693731
80.
GRCh37:
ChrMT:14529
GRCh38:
ChrMT:14529
MT-ND6G49SLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693732
81.
GRCh37:
ChrMT:14544
GRCh38:
ChrMT:14544
MT-ND6L44MLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693733
82.
GRCh37:
ChrMT:14552
GRCh38:
ChrMT:14552
MT-ND6V41ALeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693734
83.
GRCh37:
ChrMT:14553
GRCh38:
ChrMT:14553
MT-ND6V41ILeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693735
84.
GRCh37:
ChrMT:14562
GRCh38:
ChrMT:14562
MT-ND6V38ILeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693736
85.
GRCh37:
ChrMT:14563
GRCh38:
ChrMT:14563
MT-ND6Mitochondrial cytopathyUncertain significance
(Nov 21, 2016)
no assertion criteria providedVCV000370059
86.
GRCh37:
ChrMT:14564
GRCh38:
ChrMT:14564
MT-ND6V37ALeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693737
87.
GRCh37:
ChrMT:14568
GRCh38:
ChrMT:14568
MT-ND6G36SLeber optic atrophyPathogenic
(Mar 3, 2021)
no assertion criteria providedVCV000065515
88.
GRCh37:
ChrMT:14571
GRCh38:
ChrMT:14571
MT-ND6S35CLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693738
89.
GRCh37:
ChrMT:14573
GRCh38:
ChrMT:14573
MT-ND6V34ALeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693739
90.
GRCh37:
ChrMT:14574
GRCh38:
ChrMT:14574
MT-ND6V34ILeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693740
91.
GRCh37:
ChrMT:14576
GRCh38:
ChrMT:14576
MT-ND6I33TLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693741
92.
GRCh37:
ChrMT:14577
GRCh38:
ChrMT:14577
MT-ND6I33VLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693743
93.
GRCh37:
ChrMT:14577
GRCh38:
ChrMT:14577
MT-ND6I33LLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693742
94.
GRCh37:
ChrMT:14582
GRCh38:
ChrMT:14582
MT-ND6V31ALeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693744
95.
GRCh37:
ChrMT:14596
GRCh38:
ChrMT:14596
MT-ND6I26MLeber optic atrophy and dystonia, Leber optic atrophyPathogenic
(Mar 3, 2021)
no assertion criteria providedVCV000009690
96.
GRCh37:
ChrMT:14597
GRCh38:
ChrMT:14597
MT-ND6I26TDystonia, Dysarthria, Leigh syndrome
Conflicting interpretations of pathogenicity
(Oct 17, 2019)
criteria provided, conflicting interpretationsVCV000209173
97.
GRCh37:
ChrMT:14598
GRCh38:
ChrMT:14598
MT-ND6I26VBlindness, Parkinsonism, Leigh syndrome
Conflicting interpretations of pathogenicity
(Oct 17, 2019)
criteria provided, conflicting interpretationsVCV000374080
98.
GRCh37:
ChrMT:14601
GRCh38:
ChrMT:14601
MT-ND6P25SLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693745
99.
GRCh37:
ChrMT:14615
GRCh38:
ChrMT:14615
MT-ND6S20FLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693746
100.
GRCh37:
ChrMT:14619
GRCh38:
ChrMT:14619
MT-ND6F19LLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693747
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