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Items: 34

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:6003-11220
GRCh38:
ChrMT:6003-11220
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
4.
GRCh37:
ChrMT:6468-15586
GRCh38:
ChrMT:6468-15586
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
5.
GRCh37:
ChrMT:7126-13988
GRCh38:
ChrMT:7126-13988
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
6.
GRCh37:
ChrMT:7518
GRCh38:
ChrMT:7518
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
7.
GRCh37:
ChrMT:7520
GRCh38:
ChrMT:7520
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
8.
GRCh37:
ChrMT:7521
GRCh38:
ChrMT:7521
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
9.
GRCh37:
ChrMT:7525
GRCh38:
ChrMT:7525
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
10.
GRCh37:
ChrMT:7526
GRCh38:
ChrMT:7526
MT-TDMitochondrial myopathy, isolatedPathogenic
(Aug 30, 2005)
no assertion criteria provided
11.
GRCh37:
ChrMT:7533
GRCh38:
ChrMT:7533
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
12.
GRCh37:
ChrMT:7534
GRCh38:
ChrMT:7534
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
13.
GRCh37:
ChrMT:7538
GRCh38:
ChrMT:7538
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
14.
GRCh37:
ChrMT:7543
GRCh38:
ChrMT:7543
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
15.
GRCh37:
ChrMT:7546
GRCh38:
ChrMT:7546
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
16.
GRCh37:
ChrMT:7547
GRCh38:
ChrMT:7547
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
17.
GRCh37:
ChrMT:7552
GRCh38:
ChrMT:7552
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
18.
GRCh37:
ChrMT:7554
GRCh38:
ChrMT:7554
MT-TDnot specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
19.
GRCh37:
ChrMT:7555
GRCh38:
ChrMT:7555
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
20.
GRCh37:
ChrMT:7559
GRCh38:
ChrMT:7559
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
21.
GRCh37:
ChrMT:7561
GRCh38:
ChrMT:7561
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
22.
GRCh37:
ChrMT:7562
GRCh38:
ChrMT:7562
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
23.
GRCh37:
ChrMT:7566
GRCh38:
ChrMT:7566
MT-TDMitochondrial disease, Juvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
ChrMT:7567-7568
GRCh38:
ChrMT:7567-7568
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
25.
GRCh37:
ChrMT:7567
GRCh38:
ChrMT:7567
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
26.
GRCh37:
ChrMT:7568
GRCh38:
ChrMT:7568
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
27.
GRCh37:
ChrMT:7569
GRCh38:
ChrMT:7569
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
28.
GRCh37:
ChrMT:7570
GRCh38:
ChrMT:7570
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
29.
GRCh37:
ChrMT:7572
GRCh38:
ChrMT:7572
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
30.
GRCh37:
ChrMT:7576
GRCh38:
ChrMT:7576
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
31.
GRCh37:
ChrMT:7577
GRCh38:
ChrMT:7577
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
32.
GRCh37:
ChrMT:7581
GRCh38:
ChrMT:7581
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
33.
GRCh37:
ChrMT:7582
GRCh38:
ChrMT:7582
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
34.
GRCh37:
ChrMT:7585
GRCh38:
ChrMT:7585
MT-TDJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
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