U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 41

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrMT:5782-13922
GRCh38:
ChrMT:5782-13922
Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemiaLikely pathogenic
(Nov 4, 2014)
criteria provided, single submitter
2.
GRCh37:
ChrMT:5794-14876
GRCh38:
ChrMT:5794-14876
Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemiaLikely pathogenic
(Nov 4, 2014)
criteria provided, single submitter
3.
GRCh37:
ChrMT:6468-15586
GRCh38:
ChrMT:6468-15586
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
4.
GRCh37:
ChrMT:7126-13988
GRCh38:
ChrMT:7126-13988
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
5.
GRCh37:
ChrMT:8290-13040
GRCh38:
ChrMT:8290-13040
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
6.
GRCh37:
ChrMT:8350-13450
GRCh38:
ChrMT:8350-13450
Pearson syndromePathogenic
(Jun 12, 2019)
no assertion criteria provided
7.
GRCh37:
ChrMT:8470-13446
GRCh38:
ChrMT:8470-13446
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
8.
GRCh37:
ChrMT:8480-13440
GRCh38:
ChrMT:8480-13440
Pearson syndromePathogenic
(Jun 12, 2019)
no assertion criteria provided
9.
GRCh37:
ChrMT:8585-12965
GRCh38:
ChrMT:8585-12965
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
10.
GRCh37:
ChrMT:8815-13722
GRCh38:
ChrMT:8815-13722
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
11.
GRCh37:
ChrMT:8839-14895
GRCh38:
ChrMT:8839-14895
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
12.
GRCh37:
ChrMT:10105-15066
GRCh38:
ChrMT:10105-15066
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
13.
GRCh37:
ChrMT:11263-15374
GRCh38:
ChrMT:11263-15374
MT-CYB, MT-ND4, MT-ND5, MT-ND6, MT-TS2, MT-TE, MT-TH, MT-TL2Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
14.
GRCh37:
ChrMT:12114-14420
GRCh38:
ChrMT:12114-14420
MT-ND4, MT-ND6, MT-TH, MT-TL2, MT-ND5, MT-TS2Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
15.
GRCh37:
ChrMT:12207
GRCh38:
ChrMT:12207
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(May 4, 2022)
criteria provided, single submitter
16.
GRCh37:
ChrMT:12213
GRCh38:
ChrMT:12213
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
17.
GRCh37:
ChrMT:12215
GRCh38:
ChrMT:12215
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
18.
GRCh37:
ChrMT:12216
GRCh38:
ChrMT:12216
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
19.
GRCh37:
ChrMT:12217
GRCh38:
ChrMT:12217
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, not providedConflicting interpretations of pathogenicity
(Jul 29, 2020)
criteria provided, conflicting interpretations
20.
GRCh37:
ChrMT:12218
GRCh38:
ChrMT:12218
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
21.
GRCh37:
ChrMT:12223
GRCh38:
ChrMT:12223
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
22.
GRCh37:
ChrMT:12230
GRCh38:
ChrMT:12230
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
23.
GRCh37:
ChrMT:12231
GRCh38:
ChrMT:12231
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
24.
GRCh37:
ChrMT:12234
GRCh38:
ChrMT:12234
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
25.
GRCh37:
ChrMT:12235
GRCh38:
ChrMT:12235
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
26.
GRCh37:
ChrMT:12236-12237
GRCh38:
ChrMT:12236-12237
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
27.
GRCh37:
ChrMT:12236
GRCh38:
ChrMT:12236
MT-TS2not provided, not specified, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Conflicting interpretations of pathogenicity
(Jul 12, 2019)
criteria provided, conflicting interpretations
28.
GRCh37:
ChrMT:12237
GRCh38:
ChrMT:12237
MT-TS2See cases, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeConflicting interpretations of pathogenicity
(Nov 7, 2019)
criteria provided, conflicting interpretations
29.
GRCh37:
ChrMT:12237
GRCh38:
ChrMT:12237
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
30.
GRCh37:
ChrMT:12239
GRCh38:
ChrMT:12239
MT-TS2Mitochondrial diseaseBenign
(Jan 10, 2022)
reviewed by expert panel
FDA Recognized Database
31.
GRCh37:
ChrMT:12245
GRCh38:
ChrMT:12245
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
32.
GRCh37:
ChrMT:12246
GRCh38:
ChrMT:12246
MT-TS2not specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
33.
GRCh37:
ChrMT:12246
GRCh38:
ChrMT:12246
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
34.
GRCh37:
ChrMT:12247
GRCh38:
ChrMT:12247
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
35.
GRCh37:
ChrMT:12248
GRCh38:
ChrMT:12248
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
36.
GRCh37:
ChrMT:12250
GRCh38:
ChrMT:12250
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
37.
GRCh37:
ChrMT:12255
GRCh38:
ChrMT:12255
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
38.
GRCh37:
ChrMT:12258
GRCh38:
ChrMT:12258
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
ChrMT:12258
GRCh38:
ChrMT:12258
MT-TS2Cerebellar ataxia, cataract, and diabetes mellitus, Retinitis pigmentosa-deafness syndromePathogenic
(Apr 1, 1999)
no assertion criteria provided
40.
GRCh37:
ChrMT:12264
GRCh38:
ChrMT:12264
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
ChrMT:12265
GRCh38:
ChrMT:12265
MT-TS2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination