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Items: 32

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrMT:1606
GRCh38:
ChrMT:1606
MT-TVMitochondrial diseaseUncertain significance
(Jun 30, 2022)
reviewed by expert panel
FDA Recognized Database
2.
GRCh37:
ChrMT:1607
GRCh38:
ChrMT:1607
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
3.
GRCh37:
ChrMT:1608
GRCh38:
ChrMT:1608
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
4.
GRCh37:
ChrMT:1616
GRCh38:
ChrMT:1616
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Nov 19, 2021)
criteria provided, single submitter
5.
GRCh37:
ChrMT:1617
GRCh38:
ChrMT:1617
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
6.
GRCh37:
ChrMT:1618
GRCh38:
ChrMT:1618
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
7.
GRCh37:
ChrMT:1619-1620
GRCh38:
ChrMT:1619-1620
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
8.
GRCh37:
ChrMT:1619
GRCh38:
ChrMT:1619
MT-TVnot provided, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeConflicting interpretations of pathogenicity
(Jul 12, 2019)
criteria provided, conflicting interpretations
9.
GRCh37:
ChrMT:1624
GRCh38:
ChrMT:1624
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
ChrMT:1628
GRCh38:
ChrMT:1628
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
11.
GRCh37:
ChrMT:1629
GRCh38:
ChrMT:1629
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
12.
GRCh37:
ChrMT:1630
GRCh38:
ChrMT:1630
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
ChrMT:1631
GRCh38:
ChrMT:1631
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
14.
GRCh37:
ChrMT:1636
GRCh38:
ChrMT:1636
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
15.
GRCh37:
ChrMT:1638
GRCh38:
ChrMT:1638
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
16.
GRCh37:
ChrMT:1640
GRCh38:
ChrMT:1640
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
17.
GRCh37:
ChrMT:1641
GRCh38:
ChrMT:1641
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
18.
GRCh37:
ChrMT:1642
GRCh38:
ChrMT:1642
MT-TVnot specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
19.
GRCh37:
ChrMT:1643
GRCh38:
ChrMT:1643
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
20.
GRCh37:
ChrMT:1644
GRCh38:
ChrMT:1644
MT-TVMitochondrial diseaseLikely pathogenic
(Dec 10, 2021)
reviewed by expert panel
FDA Recognized Database
21.
GRCh37:
ChrMT:1644
GRCh38:
ChrMT:1644
MT-TVLeigh syndromenot providedno assertion provided
22.
GRCh37:
ChrMT:1646
GRCh38:
ChrMT:1646
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
23.
GRCh37:
ChrMT:1654
GRCh38:
ChrMT:1654
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
24.
GRCh37:
ChrMT:1655
GRCh38:
ChrMT:1655
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
25.
GRCh37:
ChrMT:1655
GRCh38:
ChrMT:1655
MT-TVEpilepsy, Developmental delay, Hyperlactaemia,
Axial hypotonia
Uncertain significance
(Nov 21, 2016)
no assertion criteria provided
26.
GRCh37:
ChrMT:1657-1658
GRCh38:
ChrMT:1657-1658
MT-TVSee casesUncertain significance
(Jul 2, 2019)
criteria provided, single submitter
27.
GRCh37:
ChrMT:1657
GRCh38:
ChrMT:1657
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
28.
GRCh37:
ChrMT:1658
GRCh38:
ChrMT:1658
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
29.
GRCh37:
ChrMT:1659
GRCh38:
ChrMT:1659
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
ChrMT:1661
GRCh38:
ChrMT:1661
MT-TVnot specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
31.
GRCh37:
ChrMT:1664
GRCh38:
ChrMT:1664
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
32.
GRCh37:
ChrMT:1670
GRCh38:
ChrMT:1670
MT-TVJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
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