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Items: 1 to 100 of 175

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:6003-11220
GRCh38:
ChrMT:6003-11220
M1fsMitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria providedVCV000430674
4.
GRCh37:
ChrMT:6468-15586
GRCh38:
ChrMT:6468-15586
I190fs, M1fsMitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria providedVCV000430675
5.
GRCh37:
ChrMT:7126-13988
GRCh38:
ChrMT:7126-13988
M1fs, Y409fsMitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria providedVCV000430676
6.
GRCh37:
ChrMT:7730-11255
GRCh38:
ChrMT:7730-11255
MT-ATP6, MT-ATP8, MT-CO2, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-TG, MT-TK, MT-TRK49fs, M1fsMitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria providedVCV000430677
7.
GRCh37:
ChrMT:8290-13040
GRCh38:
ChrMT:8290-13040
M1fsMitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria providedVCV000430678
8.
GRCh37:
ChrMT:8350-13450
GRCh38:
ChrMT:8350-13450
M1fsPearson syndromePathogenic
(Jun 12, 2019)
no assertion criteria providedVCV000638147
9.
GRCh37:
ChrMT:8470-13446
GRCh38:
ChrMT:8470-13446
Mitochondrial disease, Kearns Sayre syndromePathogenic
(Jan 31, 2019)
no assertion criteria providedVCV000430680
10.
GRCh37:
ChrMT:8480-13440
GRCh38:
ChrMT:8480-13440
M1fs, P39fsPearson syndromePathogenic
(Jun 12, 2019)
no assertion criteria providedVCV000638146
11.
GRCh37:
ChrMT:8585-12965
GRCh38:
ChrMT:8585-12965
M1fs, N2fs, V21fsMitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria providedVCV000430681
12.
GRCh37:
ChrMT:8815-13722
GRCh38:
ChrMT:8815-13722
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria providedVCV000430682
13.
GRCh37:
ChrMT:8839-14895
GRCh38:
ChrMT:8839-14895
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria providedVCV000430683
14.
GRCh37:
ChrMT:9204-9205
GRCh38:
ChrMT:9204-9205
MT-ATP6, MT-CO3Seizures and lactic acidosisPathogenic
(Sep 15, 2003)
no assertion criteria providedVCV000009646
15.
GRCh37:
ChrMT:9210
GRCh38:
ChrMT:9210
MT-CO3T2ALeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693125
16.
GRCh37:
ChrMT:9211
GRCh38:
ChrMT:9211
MT-CO3T2ILeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693126
17.
GRCh37:
ChrMT:9214
GRCh38:
ChrMT:9214
MT-CO3H3RLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693127
18.
GRCh37:
ChrMT:9217
GRCh38:
ChrMT:9217
MT-CO3Q4RLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693128
19.
GRCh37:
ChrMT:9219
GRCh38:
ChrMT:9219
MT-CO3S5ALeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693129
20.
GRCh37:
ChrMT:9234
GRCh38:
ChrMT:9234
MT-CO3M10VLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693130
21.
GRCh37:
ChrMT:9237
GRCh38:
ChrMT:9237
MT-CO3V11MDevelopmental delay, Mitochondrial encephalopathy, Epilepsy
Likely pathogenic
(Nov 21, 2016)
no assertion criteria providedVCV000370052
22.
GRCh37:
ChrMT:9247
GRCh38:
ChrMT:9247
MT-CO3S14NLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693131
23.
GRCh37:
ChrMT:9261
GRCh38:
ChrMT:9261
MT-CO3T19ALeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693132
24.
GRCh37:
ChrMT:9265
GRCh38:
ChrMT:9265
MT-CO3G20ELeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693133
25.
GRCh37:
ChrMT:9267
GRCh38:
ChrMT:9267
MT-CO3A21TLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693134
26.
GRCh37:
ChrMT:9270
GRCh38:
ChrMT:9270
MT-CO3L22FLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693135
27.
GRCh37:
ChrMT:9273-9274
GRCh38:
ChrMT:9273-9274
MT-CO3Tetralogy of FallotPathogenicno assertion criteria providedVCV000599028
28.
GRCh37:
ChrMT:9276
GRCh38:
ChrMT:9276
MT-CO3A24TLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693136
29.
GRCh37:
ChrMT:9281
GRCh38:
ChrMT:9281
MT-CO3not providedUncertain significance
(Oct 9, 2015)
criteria provided, single submitterVCV000235461
30.
GRCh37:
ChrMT:9285
GRCh38:
ChrMT:9285
MT-CO3M27VLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693137
31.
GRCh37:
ChrMT:9286
GRCh38:
ChrMT:9286
MT-CO3M27TLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693138
32.
GRCh37:
ChrMT:9288
GRCh38:
ChrMT:9288
MT-CO3T28ALeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693139
33.
GRCh37:
ChrMT:9294
GRCh38:
ChrMT:9294
MT-CO3G30SLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693140
34.
GRCh37:
ChrMT:9300
GRCh38:
ChrMT:9300
MT-CO3A32TLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693141
35.
GRCh37:
ChrMT:9301
GRCh38:
ChrMT:9301
MT-CO3A32VLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693142
36.
GRCh37:
ChrMT:9304
GRCh38:
ChrMT:9304
MT-CO3M33TLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693143
37.
GRCh37:
ChrMT:9309
GRCh38:
ChrMT:9309
MT-CO3F35LLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693144
38.
GRCh37:
ChrMT:9311-9312
GRCh38:
ChrMT:9311-9312
MT-CO3Abnormal aortic valve physiologyLikely pathogenicno assertion criteria providedVCV000590894
39.
GRCh37:
ChrMT:9316
GRCh38:
ChrMT:9316
MT-CO3F37SLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693145
40.
GRCh37:
ChrMT:9318
GRCh38:
ChrMT:9318
MT-CO3H38Ynot providedUncertain significance
(Apr 4, 2018)
criteria provided, single submitterVCV000618214
41.
GRCh37:
ChrMT:9319
GRCh38:
ChrMT:9319
MT-CO3H38RLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693146
42.
GRCh37:
ChrMT:9324
GRCh38:
ChrMT:9324
MT-CO3M40VLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693147
43.
GRCh37:
ChrMT:9325
GRCh38:
ChrMT:9325
MT-CO3M40TLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693148
44.
GRCh37:
ChrMT:9327
GRCh38:
ChrMT:9327
MT-CO3T41ALeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693150
45.
GRCh37:
ChrMT:9327
GRCh38:
ChrMT:9327
MT-CO3T41PLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693149
46.
GRCh37:
ChrMT:9331
GRCh38:
ChrMT:9331
MT-CO3L42PLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693151
47.
GRCh37:
ChrMT:9336
GRCh38:
ChrMT:9336
MT-CO3M44VLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693152
48.
GRCh37:
ChrMT:9337
GRCh38:
ChrMT:9337
MT-CO3M44TLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693153
49.
GRCh37:
ChrMT:9342
GRCh38:
ChrMT:9342
MT-CO3G46SLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693154
50.
GRCh37:
ChrMT:9353
GRCh38:
ChrMT:9353
MT-CO3not providedUncertain significance
(May 10, 2016)
criteria provided, single submitterVCV000235225
51.
GRCh37:
ChrMT:9355
GRCh38:
ChrMT:9355
MT-CO3N50SLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693155
52.
GRCh37:
ChrMT:9355
GRCh38:
ChrMT:9355
MT-CO3N50IDifficulty walking, Oromandibular dystonia, Cerebellar ataxia,
Short stature, Hearing impairment, Acute hepatic failure,
Abnormal mitochondria in muscle tissue, Moderate sensorineural hearing impairment, Nephrolithiasis,
Subcutaneous lipoma, Chronic fatigueSleep apnea,
Exercise intolerance, ...see more
Uncertain significance
(Jan 1, 2017)
criteria provided, single submitterVCV000523307
53.
GRCh37:
ChrMT:9357
GRCh38:
ChrMT:9357
MT-CO3T51ALeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693156
54.
GRCh37:
ChrMT:9367
GRCh38:
ChrMT:9367
MT-CO3M54TLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693157
55.
GRCh37:
ChrMT:9368
GRCh38:
ChrMT:9368
MT-CO3not providedLikely benign
(Oct 9, 2015)
criteria provided, single submitterVCV000235541
56.
GRCh37:
ChrMT:9379
GRCh38:
ChrMT:9379
MT-CO3W58*Mitochondrial myopathy, infantile, transient, Mitochondrial complex IV deficiency, Mitochondrial disease
Pathogenic
(Oct 17, 2019)
criteria provided, single submitterVCV000009657
57.
GRCh37:
ChrMT:9387
GRCh38:
ChrMT:9387
MT-CO3V61MLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693158
58.
GRCh37:
ChrMT:9390
GRCh38:
ChrMT:9390
MT-CO3T62ALeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693159
59.
GRCh37:
ChrMT:9391
GRCh38:
ChrMT:9391
MT-CO3T62MLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693160
60.
GRCh37:
ChrMT:9405
GRCh38:
ChrMT:9405
MT-CO3Y67HLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693161
61.
GRCh37:
ChrMT:9429-9430
GRCh38:
ChrMT:9429-9430
MT-CO3Tetralogy of FallotPathogenicno assertion criteria providedVCV000599026
62.
GRCh37:
ChrMT:9431-9432
GRCh38:
ChrMT:9431-9432
MT-CO3Q76fsAbnormal aortic valve physiologyPathogenicno assertion criteria providedVCV000590891
63.
GRCh37:
ChrMT:9438
GRCh38:
ChrMT:9438
MT-CO3G78SLeigh syndrome, Leber optic atrophyBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000009651
64.
GRCh37:
ChrMT:9439
GRCh38:
ChrMT:9439
MT-CO3G78DLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693162
65.
GRCh37:
ChrMT:9441-9442
GRCh38:
ChrMT:9441-9442
MT-CO3Tetralogy of FallotPathogenicno assertion criteria providedVCV000599027
66.
GRCh37:
ChrMT:9445
GRCh38:
ChrMT:9445
MT-CO3R80QLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693163
67.
GRCh37:
ChrMT:9448
GRCh38:
ChrMT:9448
MT-CO3Y81CLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693164
68.
GRCh37:
ChrMT:9456
GRCh38:
ChrMT:9456
MT-CO3I84LLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693166
69.
GRCh37:
ChrMT:9456
GRCh38:
ChrMT:9456
MT-CO3I84VLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693165
70.
GRCh37:
ChrMT:9467
GRCh38:
ChrMT:9467
MT-CO3not providedLikely benign
(Aug 12, 2015)
criteria provided, single submitterVCV000235458
71.
GRCh37:
ChrMT:9468
GRCh38:
ChrMT:9468
MT-CO3T88ALeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693167
72.
GRCh37:
ChrMT:9469
GRCh38:
ChrMT:9469
MT-CO3T88ILeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693168
73.
GRCh37:
ChrMT:9477
GRCh38:
ChrMT:9477
MT-CO3V91LLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693170
74.
GRCh37:
ChrMT:9477
GRCh38:
ChrMT:9477
MT-CO3V91ILeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693169
75.
GRCh37:
ChrMT:9478
GRCh38:
ChrMT:9478
MT-CO3V91GLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693171
76.
GRCh37:
ChrMT:9478
GRCh38:
ChrMT:9478
MT-CO3V91ALeigh syndromePathogenic
(Dec 2, 2021)
no assertion criteria providedVCV000155885
77.
GRCh37:
ChrMT:9480
GRCh38:
ChrMT:9480
MT-CO3F92LLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693172
78.
GRCh37:
ChrMT:9480-9494
GRCh38:
ChrMT:9480-9494
MT-CO3Mitochondrial complex IV deficiency, Mitochondrial complex IV deficiency with recurrent myoglobinuriaPathogenic
(Apr 1, 1996)
no assertion criteria providedVCV000009654
79.
GRCh37:
ChrMT:9481
GRCh38:
ChrMT:9481
MT-CO3F92SLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693173
80.
GRCh37:
ChrMT:9484
GRCh38:
ChrMT:9484
MT-CO3F93SLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693174
81.
GRCh37:
ChrMT:9489
GRCh38:
ChrMT:9489
MT-CO3A95TLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693175
82.
GRCh37:
ChrMT:9490
GRCh38:
ChrMT:9490
MT-CO3A95VLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693176
83.
GRCh37:
ChrMT:9495
GRCh38:
ChrMT:9495
MT-CO3F97LLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693177
84.
GRCh37:
ChrMT:9508
GRCh38:
ChrMT:9508
MT-CO3F101YLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693178
85.
GRCh37:
ChrMT:9509
GRCh38:
ChrMT:9509
MT-CO3not providedUncertain significance
(Dec 22, 2015)
criteria provided, single submitterVCV000235641
86.
GRCh37:
ChrMT:9525
GRCh38:
ChrMT:9525
MT-CO3A107TLeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693179
87.
GRCh37:
ChrMT:9531
GRCh38:
ChrMT:9531
MT-CO3T109ALeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693180
88.
GRCh37:
ChrMT:9531-9532
GRCh38:
ChrMT:9531-9532
MT-CO3Q111fsMitochondrial complex IV deficiency, Leigh syndromePathogenic
(Dec 2, 2021)
no assertion criteria providedVCV000009656
89.
GRCh37:
ChrMT:9545
GRCh38:
ChrMT:9545
MT-CO3not providedBenign
(Sep 17, 2015)
criteria provided, single submitterVCV000235374
90.
GRCh37:
ChrMT:9549
GRCh38:
ChrMT:9549
MT-CO3H115YSee cases, Leigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, multiple submitters, no conflictsVCV000693181
91.
GRCh37:
ChrMT:9564
GRCh38:
ChrMT:9564
MT-CO3G120SLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693182
92.
GRCh37:
ChrMT:9568
GRCh38:
ChrMT:9568
MT-CO3I121Tnot specifiedUncertain significance
(Mar 17, 2017)
criteria provided, single submitterVCV000439914
93.
GRCh37:
ChrMT:9571
GRCh38:
ChrMT:9571
MT-CO3T122ILeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693183
94.
GRCh37:
ChrMT:9577
GRCh38:
ChrMT:9577
MT-CO3L124PLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693184
95.
GRCh37:
ChrMT:9580
GRCh38:
ChrMT:9580
MT-CO3N125TLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693185
96.
GRCh37:
ChrMT:9582
GRCh38:
ChrMT:9582
MT-CO3P126SLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693186
97.
GRCh37:
ChrMT:9588
GRCh38:
ChrMT:9588
MT-CO3E128KLeigh syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000693187
98.
GRCh37:
ChrMT:9591
GRCh38:
ChrMT:9591
MT-CO3V129ILeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693188
99.
GRCh37:
ChrMT:9592
GRCh38:
ChrMT:9592
MT-CO3V129ALeigh syndromeLikely benign
(Oct 17, 2019)
criteria provided, single submitterVCV000693189
100.
GRCh37:
ChrMT:9604
GRCh38:
ChrMT:9604
MT-CO3N133SLeigh syndromeBenign
(Oct 17, 2019)
criteria provided, single submitterVCV000693190
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