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Items: 58

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrMT:15888
GRCh38:
ChrMT:15888
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
2.
GRCh37:
ChrMT:15889
GRCh38:
ChrMT:15889
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
3.
GRCh37:
ChrMT:15890
GRCh38:
ChrMT:15890
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
4.
GRCh37:
ChrMT:15890
GRCh38:
ChrMT:15890
MT-TTNeoplasm of ovaryLikely pathogenicno assertion criteria provided
5.
GRCh37:
ChrMT:15891
GRCh38:
ChrMT:15891
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
6.
GRCh37:
ChrMT:15892
GRCh38:
ChrMT:15892
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
7.
GRCh37:
ChrMT:15893
GRCh38:
ChrMT:15893
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
8.
GRCh37:
ChrMT:15894
GRCh38:
ChrMT:15894
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
9.
GRCh37:
ChrMT:15895
GRCh38:
ChrMT:15895
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
10.
GRCh37:
ChrMT:15897
GRCh38:
ChrMT:15897
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
11.
GRCh37:
ChrMT:15900
GRCh38:
ChrMT:15900
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
12.
GRCh37:
ChrMT:15902
GRCh38:
ChrMT:15902
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
13.
GRCh37:
ChrMT:15903
GRCh38:
ChrMT:15903
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
14.
GRCh37:
ChrMT:15904
GRCh38:
ChrMT:15904
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
15.
GRCh37:
ChrMT:15905
GRCh38:
ChrMT:15905
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
16.
GRCh37:
ChrMT:15907
GRCh38:
ChrMT:15907
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
17.
GRCh37:
ChrMT:15908
GRCh38:
ChrMT:15908
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
18.
GRCh37:
ChrMT:15909
GRCh38:
ChrMT:15909
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
19.
GRCh37:
ChrMT:15909
GRCh38:
ChrMT:15909
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
20.
GRCh37:
ChrMT:15911
GRCh38:
ChrMT:15911
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
21.
GRCh37:
ChrMT:15913
GRCh38:
ChrMT:15913
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
22.
GRCh37:
ChrMT:15914
GRCh38:
ChrMT:15914
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
23.
GRCh37:
ChrMT:15915
GRCh38:
ChrMT:15915
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(Jul 12, 2019)
criteria provided, single submitter
24.
GRCh37:
ChrMT:15916
GRCh38:
ChrMT:15916
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
25.
GRCh37:
ChrMT:15917
GRCh38:
ChrMT:15917
MT-TTnot providednot providedno assertion provided
26.
GRCh37:
ChrMT:15921
GRCh38:
ChrMT:15921
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
27.
GRCh37:
ChrMT:15923
GRCh38:
ChrMT:15923
MT-TTMitochondrial disease, Sudden cardiac death, Generalized hypotonia,
Neonatal onset, Failure to thrive, Constipation,
Jaundice, Infantile onset
Conflicting interpretations of pathogenicity
(Mar 13, 2019)
criteria provided, conflicting interpretations
28.
GRCh37:
ChrMT:15924
GRCh38:
ChrMT:15924
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
29.
GRCh37:
ChrMT:15925
GRCh38:
ChrMT:15925
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
30.
GRCh37:
ChrMT:15926
GRCh38:
ChrMT:15926
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
31.
GRCh37:
ChrMT:15927
GRCh38:
ChrMT:15927
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
32.
GRCh37:
ChrMT:15928
GRCh38:
ChrMT:15928
MT-TTMitochondrial DNA-related disordernot providedno assertion provided
33.
GRCh37:
ChrMT:15928
GRCh38:
ChrMT:15928
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
34.
GRCh37:
ChrMT:15929
GRCh38:
ChrMT:15929
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
35.
GRCh37:
ChrMT:15930
GRCh38:
ChrMT:15930
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
36.
GRCh37:
ChrMT:15932
GRCh38:
ChrMT:15932
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
37.
GRCh37:
ChrMT:15932
GRCh38:
ChrMT:15932
MT-TTNeoplasm of ovaryLikely pathogenicno assertion criteria provided
38.
GRCh37:
ChrMT:15934
GRCh38:
ChrMT:15934
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
39.
GRCh37:
ChrMT:15935
GRCh38:
ChrMT:15935
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
40.
GRCh37:
ChrMT:15936
GRCh38:
ChrMT:15936
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
41.
GRCh37:
ChrMT:15936
GRCh38:
ChrMT:15936
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
42.
GRCh37:
ChrMT:15937
GRCh38:
ChrMT:15937
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
43.
GRCh37:
ChrMT:15937
GRCh38:
ChrMT:15937
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
44.
GRCh37:
ChrMT:15938
GRCh38:
ChrMT:15938
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
45.
GRCh37:
ChrMT:15939-15940
GRCh38:
ChrMT:15939-15940
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
46.
GRCh37:
ChrMT:15939
GRCh38:
ChrMT:15939
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
47.
GRCh37:
ChrMT:15940
GRCh38:
ChrMT:15940
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
48.
GRCh37:
ChrMT:15940
GRCh38:
ChrMT:15940
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
49.
GRCh37:
ChrMT:15941
GRCh38:
ChrMT:15941
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
50.
GRCh37:
ChrMT:15942
GRCh38:
ChrMT:15942
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
51.
GRCh37:
ChrMT:15943
GRCh38:
ChrMT:15943
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
52.
GRCh37:
ChrMT:15944
GRCh38:
ChrMT:15944
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
53.
GRCh37:
ChrMT:15946
GRCh38:
ChrMT:15946
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
54.
GRCh37:
ChrMT:15947
GRCh38:
ChrMT:15947
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
55.
GRCh37:
ChrMT:15949
GRCh38:
ChrMT:15949
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
56.
GRCh37:
ChrMT:15950
GRCh38:
ChrMT:15950
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
57.
GRCh37:
ChrMT:15951
GRCh38:
ChrMT:15951
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
58.
GRCh37:
ChrMT:15952
GRCh38:
ChrMT:15952
MT-TTJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
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