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Items: 28

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrMT:4332
GRCh38:
ChrMT:4332
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(Feb 13, 2001)
no assertion criteria provided
2.
GRCh37:
ChrMT:4335
GRCh38:
ChrMT:4335
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
3.
GRCh37:
ChrMT:4336
GRCh38:
ChrMT:4336
MT-TQnot specified, not provided, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Conflicting interpretations of pathogenicity
(Aug 17, 2020)
criteria provided, conflicting interpretations
4.
GRCh37:
ChrMT:4339
GRCh38:
ChrMT:4339
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
5.
GRCh37:
ChrMT:4340
GRCh38:
ChrMT:4340
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
6.
GRCh37:
ChrMT:4343
GRCh38:
ChrMT:4343
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
7.
GRCh37:
ChrMT:4350
GRCh38:
ChrMT:4350
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
8.
GRCh37:
ChrMT:4353
GRCh38:
ChrMT:4353
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
9.
GRCh37:
ChrMT:4360
GRCh38:
ChrMT:4360
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
10.
GRCh37:
ChrMT:4363
GRCh38:
ChrMT:4363
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
11.
GRCh37:
ChrMT:4365-4366
GRCh38:
ChrMT:4365-4366
MT-TQMyopathyPathogenic
(Oct 1, 2000)
no assertion criteria provided
12.
GRCh37:
ChrMT:4370
GRCh38:
ChrMT:4370
MT-TQnot provided, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
ChrMT:4371
GRCh38:
ChrMT:4371
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
14.
GRCh37:
ChrMT:4372
GRCh38:
ChrMT:4372
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely pathogenic
(Jul 12, 2019)
criteria provided, single submitter
15.
GRCh37:
ChrMT:4373
GRCh38:
ChrMT:4373
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
16.
GRCh37:
ChrMT:4375
GRCh38:
ChrMT:4375
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
17.
GRCh37:
ChrMT:4381
GRCh38:
ChrMT:4381
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
18.
GRCh37:
ChrMT:4384
GRCh38:
ChrMT:4384
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
19.
GRCh37:
ChrMT:4384
GRCh38:
ChrMT:4384
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
20.
GRCh37:
ChrMT:4385
GRCh38:
ChrMT:4385
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
21.
GRCh37:
ChrMT:4385
GRCh38:
ChrMT:4385
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
22.
GRCh37:
ChrMT:4386
GRCh38:
ChrMT:4386
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
23.
GRCh37:
ChrMT:4387
GRCh38:
ChrMT:4387
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
24.
GRCh37:
ChrMT:4388
GRCh38:
ChrMT:4388
MT-TQnot provided, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeConflicting interpretations of pathogenicity
(Jul 12, 2019)
criteria provided, conflicting interpretations
25.
GRCh37:
ChrMT:4394
GRCh38:
ChrMT:4394
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
26.
GRCh37:
ChrMT:4395
GRCh38:
ChrMT:4395
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
27.
GRCh37:
ChrMT:4399
GRCh38:
ChrMT:4399
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
28.
GRCh37:
ChrMT:4400
GRCh38:
ChrMT:4400
MT-TQJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
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