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Items: 38

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrMT:578
GRCh38:
ChrMT:578
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely pathogenic
(Jul 12, 2019)
criteria provided, single submitter
2.
GRCh37:
ChrMT:579
GRCh38:
ChrMT:579
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
3.
GRCh37:
ChrMT:583
GRCh38:
ChrMT:583
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(Jul 12, 2019)
criteria provided, single submitter
4.
GRCh37:
ChrMT:586
GRCh38:
ChrMT:586
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(Jul 12, 2019)
criteria provided, single submitter
5.
GRCh37:
ChrMT:588
GRCh38:
ChrMT:588
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
6.
GRCh37:
ChrMT:590
GRCh38:
ChrMT:590
MT-TFMitochondrial diseasePathogenic
(Oct 1, 2019)
no assertion criteria provided
7.
GRCh37:
ChrMT:591
GRCh38:
ChrMT:591
MT-TFHypokalemia, Hypomagnesemia, Nephropathy, chronic tubulointerstitial
Pathogenic/Likely pathogenic
(Jul 22, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
ChrMT:592
GRCh38:
ChrMT:592
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
9.
GRCh37:
ChrMT:593-594
GRCh38:
ChrMT:593-594
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
10.
GRCh37:
ChrMT:593
GRCh38:
ChrMT:593
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
11.
GRCh37:
ChrMT:595
GRCh38:
ChrMT:595
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
12.
GRCh37:
ChrMT:595
GRCh38:
ChrMT:595
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
13.
GRCh37:
ChrMT:596
GRCh38:
ChrMT:596
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
14.
GRCh37:
ChrMT:597-598
GRCh38:
ChrMT:597-598
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
15.
GRCh37:
ChrMT:597
GRCh38:
ChrMT:597
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
16.
GRCh37:
ChrMT:603
GRCh38:
ChrMT:603
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
17.
GRCh37:
ChrMT:606
GRCh38:
ChrMT:606
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
18.
GRCh37:
ChrMT:608
GRCh38:
ChrMT:608
MT-TFnot specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
19.
GRCh37:
ChrMT:611
GRCh38:
ChrMT:611
MT-TFMERRF syndromePathogenic
(Sep 25, 2007)
no assertion criteria provided
20.
GRCh37:
ChrMT:616
GRCh38:
ChrMT:616
MT-TFEpilepsy, mitochondrialPathogenic
(Feb 9, 2010)
no assertion criteria provided
21.
GRCh37:
ChrMT:616
GRCh38:
ChrMT:616
MT-TFMitochondrial diseaseLikely pathogenic
(Jun 30, 2022)
reviewed by expert panel
FDA Recognized Database
22.
GRCh37:
ChrMT:618
GRCh38:
ChrMT:618
MT-TFMitochondrial disease, Juvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
ChrMT:619
GRCh38:
ChrMT:619
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
24.
GRCh37:
ChrMT:621
GRCh38:
ChrMT:621
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
25.
GRCh37:
ChrMT:622
GRCh38:
ChrMT:622
MT-TFMitochondrial diseasePathogenic
(May 4, 2022)
criteria provided, single submitter
26.
GRCh37:
ChrMT:624
GRCh38:
ChrMT:624
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
27.
GRCh37:
ChrMT:628
GRCh38:
ChrMT:628
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
28.
GRCh37:
ChrMT:629
GRCh38:
ChrMT:629
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
29.
GRCh37:
ChrMT:629
GRCh38:
ChrMT:629
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
30.
GRCh37:
ChrMT:630
GRCh38:
ChrMT:630
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
31.
GRCh37:
ChrMT:633
GRCh38:
ChrMT:633
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
32.
GRCh37:
ChrMT:634
GRCh38:
ChrMT:634
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
33.
GRCh37:
ChrMT:634
GRCh38:
ChrMT:634
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
34.
GRCh37:
ChrMT:635
GRCh38:
ChrMT:635
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
35.
GRCh37:
ChrMT:636
GRCh38:
ChrMT:636
MT-TFnot specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
36.
GRCh37:
ChrMT:643
GRCh38:
ChrMT:643
MT-TFChronic kidney disease, Hypokalemia, Hypomagnesemia,
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Uncertain significance
(Jul 7, 2021)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
ChrMT:644
GRCh38:
ChrMT:644
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
38.
GRCh37:
ChrMT:647
GRCh38:
ChrMT:647
MT-TFJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
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