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Items: 32

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrMT:5772
GRCh38:
ChrMT:5772
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
2.
GRCh37:
ChrMT:5773
GRCh38:
ChrMT:5773
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
3.
GRCh37:
ChrMT:5774
GRCh38:
ChrMT:5774
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
4.
GRCh37:
ChrMT:5774
GRCh38:
ChrMT:5774
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
5.
GRCh37:
ChrMT:5775
GRCh38:
ChrMT:5775
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
6.
GRCh37:
ChrMT:5780
GRCh38:
ChrMT:5780
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
7.
GRCh37:
ChrMT:5782-13922
GRCh38:
ChrMT:5782-13922
Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemiaLikely pathogenic
(Nov 4, 2014)
criteria provided, single submitter
8.
GRCh37:
ChrMT:5783
GRCh38:
ChrMT:5783
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
9.
GRCh37:
ChrMT:5784-5785
GRCh38:
ChrMT:5784-5785
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
10.
GRCh37:
ChrMT:5785
GRCh38:
ChrMT:5785
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
11.
GRCh37:
ChrMT:5786
GRCh38:
ChrMT:5786
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
12.
GRCh37:
ChrMT:5788
GRCh38:
ChrMT:5788
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
13.
GRCh37:
ChrMT:5791
GRCh38:
ChrMT:5791
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
14.
GRCh37:
ChrMT:5793
GRCh38:
ChrMT:5793
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
15.
GRCh37:
ChrMT:5794
GRCh38:
ChrMT:5794
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
16.
GRCh37:
ChrMT:5794-14876
GRCh38:
ChrMT:5794-14876
Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemiaLikely pathogenic
(Nov 4, 2014)
criteria provided, single submitter
17.
GRCh37:
ChrMT:5800
GRCh38:
ChrMT:5800
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
18.
GRCh37:
ChrMT:5802
GRCh38:
ChrMT:5802
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
19.
GRCh37:
ChrMT:5804
GRCh38:
ChrMT:5804
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
20.
GRCh37:
ChrMT:5806
GRCh38:
ChrMT:5806
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
21.
GRCh37:
ChrMT:5807
GRCh38:
ChrMT:5807
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
22.
GRCh37:
ChrMT:5809
GRCh38:
ChrMT:5809
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
23.
GRCh37:
ChrMT:5811
GRCh38:
ChrMT:5811
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
24.
GRCh37:
ChrMT:5814
GRCh38:
ChrMT:5814
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
25.
GRCh37:
ChrMT:5814
GRCh38:
ChrMT:5814
MT-TCnot provided, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeConflicting interpretations of pathogenicity
(Jul 12, 2019)
criteria provided, conflicting interpretations
26.
GRCh37:
ChrMT:5816
GRCh38:
ChrMT:5816
MT-TCDystonia, mitochondrialPathogenic
(Aug 28, 2007)
no assertion criteria provided
27.
GRCh37:
ChrMT:5817
GRCh38:
ChrMT:5817
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
28.
GRCh37:
ChrMT:5819
GRCh38:
ChrMT:5819
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
29.
GRCh37:
ChrMT:5821
GRCh38:
ChrMT:5821
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
30.
GRCh37:
ChrMT:5822
GRCh38:
ChrMT:5822
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
31.
GRCh37:
ChrMT:5823
GRCh38:
ChrMT:5823
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
32.
GRCh37:
ChrMT:5824
GRCh38:
ChrMT:5824
MT-TCJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
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