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Items: 23

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrMT:5590
GRCh38:
ChrMT:5590
MT-TAJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
2.
GRCh37:
ChrMT:5591
GRCh38:
ChrMT:5591
MT-TAMitochondrial disease, Juvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
ChrMT:5592
GRCh38:
ChrMT:5592
MT-TAJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
4.
GRCh37:
ChrMT:5600
GRCh38:
ChrMT:5600
MT-TAJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
5.
GRCh37:
ChrMT:5601
GRCh38:
ChrMT:5601
MT-TAJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
6.
GRCh37:
ChrMT:5603
GRCh38:
ChrMT:5603
MT-TAJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
7.
GRCh37:
ChrMT:5604
GRCh38:
ChrMT:5604
MT-TAJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
8.
GRCh37:
ChrMT:5605
GRCh38:
ChrMT:5605
MT-TAJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
9.
GRCh37:
ChrMT:5607
GRCh38:
ChrMT:5607
MT-TAJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
10.
GRCh37:
ChrMT:5608
GRCh38:
ChrMT:5608
MT-TAJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
11.
GRCh37:
ChrMT:5609
GRCh38:
ChrMT:5609
MT-TAJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
12.
GRCh37:
ChrMT:5610
GRCh38:
ChrMT:5610
MT-TAInborn mitochondrial myopathyPathogenic
(Dec 15, 2014)
no assertion criteria provided
13.
GRCh37:
ChrMT:5613
GRCh38:
ChrMT:5613
MT-TAnot specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
14.
GRCh37:
ChrMT:5618
GRCh38:
ChrMT:5618
MT-TAJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
15.
GRCh37:
ChrMT:5619
GRCh38:
ChrMT:5619
MT-TAJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
16.
GRCh37:
ChrMT:5628
GRCh38:
ChrMT:5628
MT-TAJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
17.
GRCh37:
ChrMT:5631
GRCh38:
ChrMT:5631
MT-TAMitochondrial diseasePathogenic
(May 4, 2022)
criteria provided, single submitter
18.
GRCh37:
ChrMT:5633
GRCh38:
ChrMT:5633
MT-TAJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
19.
GRCh37:
ChrMT:5640
GRCh38:
ChrMT:5640
MT-TAJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
20.
GRCh37:
ChrMT:5645
GRCh38:
ChrMT:5645
MT-TAJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
21.
GRCh37:
ChrMT:5650
GRCh38:
ChrMT:5650
MT-TAMitochondrial diseasePathogenic
(May 4, 2022)
criteria provided, single submitter
22.
GRCh37:
ChrMT:5654
GRCh38:
ChrMT:5654
MT-TAJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
23.
GRCh37:
ChrMT:5655
GRCh38:
ChrMT:5655
MT-TAJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
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