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Items: 54

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:6468-15586
GRCh38:
ChrMT:6468-15586
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
4.
GRCh37:
ChrMT:7126-13988
GRCh38:
ChrMT:7126-13988
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
5.
GRCh37:
ChrMT:8290-13040
GRCh38:
ChrMT:8290-13040
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
6.
GRCh37:
ChrMT:8350-13450
GRCh38:
ChrMT:8350-13450
Pearson syndromePathogenic
(Jun 12, 2019)
no assertion criteria provided
7.
GRCh37:
ChrMT:8470-13446
GRCh38:
ChrMT:8470-13446
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
8.
GRCh37:
ChrMT:8480-13440
GRCh38:
ChrMT:8480-13440
Pearson syndromePathogenic
(Jun 12, 2019)
no assertion criteria provided
9.
GRCh37:
ChrMT:8585-12965
GRCh38:
ChrMT:8585-12965
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
10.
GRCh37:
ChrMT:8815-13722
GRCh38:
ChrMT:8815-13722
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
11.
GRCh37:
ChrMT:8839-14895
GRCh38:
ChrMT:8839-14895
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
12.
GRCh37:
ChrMT:10105-15066
GRCh38:
ChrMT:10105-15066
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
13.
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
14.
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
15.
GRCh37:
ChrMT:12141
GRCh38:
ChrMT:12141
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
16.
GRCh37:
ChrMT:12142
GRCh38:
ChrMT:12142
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
17.
GRCh37:
ChrMT:12143
GRCh38:
ChrMT:12143
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
18.
GRCh37:
ChrMT:12144
GRCh38:
ChrMT:12144
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
19.
GRCh37:
ChrMT:12146
GRCh38:
ChrMT:12146
MT-THnot specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
20.
GRCh37:
ChrMT:12147
GRCh38:
ChrMT:12147
MT-THMitochondrial disease, Juvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
ChrMT:12148
GRCh38:
ChrMT:12148
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely pathogenic
(Jul 12, 2019)
criteria provided, single submitter
22.
GRCh37:
ChrMT:12150
GRCh38:
ChrMT:12150
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
23.
GRCh37:
ChrMT:12151
GRCh38:
ChrMT:12151
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
24.
GRCh37:
ChrMT:12153
GRCh38:
ChrMT:12153
MT-THnot provided, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeConflicting interpretations of pathogenicity
(Jul 12, 2019)
criteria provided, conflicting interpretations
25.
GRCh37:
ChrMT:12160
GRCh38:
ChrMT:12160
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
26.
GRCh37:
ChrMT:12161
GRCh38:
ChrMT:12161
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
27.
GRCh37:
ChrMT:12163
GRCh38:
ChrMT:12163
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
28.
GRCh37:
ChrMT:12164
GRCh38:
ChrMT:12164
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
29.
GRCh37:
ChrMT:12166
GRCh38:
ChrMT:12166
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
30.
GRCh37:
ChrMT:12170
GRCh38:
ChrMT:12170
MT-THmtDNA-related disordersnot providedno assertion provided
31.
GRCh37:
ChrMT:12171
GRCh38:
ChrMT:12171
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
32.
GRCh37:
ChrMT:12172
GRCh38:
ChrMT:12172
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
33.
GRCh37:
ChrMT:12173
GRCh38:
ChrMT:12173
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
34.
GRCh37:
ChrMT:12173
GRCh38:
ChrMT:12173
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
35.
GRCh37:
ChrMT:12175
GRCh38:
ChrMT:12175
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND stroke, not providedConflicting interpretations of pathogenicity
(Jul 12, 2019)
criteria provided, conflicting interpretations
36.
GRCh37:
ChrMT:12176
GRCh38:
ChrMT:12176
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
37.
GRCh37:
ChrMT:12177
GRCh38:
ChrMT:12177
MT-THnot providedUncertain significance
(Aug 14, 2017)
criteria provided, single submitter
38.
GRCh37:
ChrMT:12178
GRCh38:
ChrMT:12178
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
39.
GRCh37:
ChrMT:12181
GRCh38:
ChrMT:12181
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
40.
GRCh37:
ChrMT:12183
GRCh38:
ChrMT:12183
MT-THPigmentary retinopathy and sensorineural deafnessPathogenic
(Apr 8, 2003)
no assertion criteria provided
41.
GRCh37:
ChrMT:12184
GRCh38:
ChrMT:12184
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
42.
GRCh37:
ChrMT:12185
GRCh38:
ChrMT:12185
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
43.
GRCh37:
ChrMT:12187
GRCh38:
ChrMT:12187
MT-THnot specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
44.
GRCh37:
ChrMT:12187
GRCh38:
ChrMT:12187
MT-THnot providednot providedno assertion provided
45.
GRCh37:
ChrMT:12188
GRCh38:
ChrMT:12188
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
46.
GRCh37:
ChrMT:12189
GRCh38:
ChrMT:12189
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
47.
GRCh37:
ChrMT:12191
GRCh38:
ChrMT:12191
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
48.
GRCh37:
ChrMT:12192
GRCh38:
ChrMT:12192
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
49.
GRCh37:
ChrMT:12193
GRCh38:
ChrMT:12193
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
50.
GRCh37:
ChrMT:12196
GRCh38:
ChrMT:12196
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
51.
GRCh37:
ChrMT:12201
GRCh38:
ChrMT:12201
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
52.
GRCh37:
ChrMT:12202
GRCh38:
ChrMT:12202
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
53.
GRCh37:
ChrMT:12204
GRCh38:
ChrMT:12204
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
54.
GRCh37:
ChrMT:12205
GRCh38:
ChrMT:12205
MT-THJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
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