U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 40

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrMT:1494
GRCh38:
ChrMT:1494
MT-RNR1, MT-TS1Mitochondrial disease, tobramycin response - Toxicity, kanamycin response - Toxicity,
streptomycin response - Toxicity, gentamicin response - Toxicity, aminoglycoside antibacterials response - Toxicity
Likely pathogenic; drug response
(Jul 11, 2022)
reviewed by expert panel
FDA Recognized Database
2.
GRCh37:
ChrMT:5782-13922
GRCh38:
ChrMT:5782-13922
Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemiaLikely pathogenic
(Nov 4, 2014)
criteria provided, single submitter
3.
GRCh37:
ChrMT:5794-14876
GRCh38:
ChrMT:5794-14876
Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemiaLikely pathogenic
(Nov 4, 2014)
criteria provided, single submitter
4.
GRCh37:
ChrMT:6003-11220
GRCh38:
ChrMT:6003-11220
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
5.
GRCh37:
ChrMT:6468-15586
GRCh38:
ChrMT:6468-15586
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
6.
GRCh37:
ChrMT:7126-13988
GRCh38:
ChrMT:7126-13988
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
7.
GRCh37:
ChrMT:7443
GRCh38:
ChrMT:7443
MT-CO1, MT-TS1Mitochondrial non-syndromic sensorineural hearing lossPathogenic
(May 4, 2022)
criteria provided, single submitter
8.
GRCh37:
ChrMT:7444
GRCh38:
ChrMT:7444
MT-CO1, MT-TS1not provided, Leigh syndromeConflicting interpretations of pathogenicity
(Oct 23, 2020)
criteria provided, conflicting interpretations
9.
GRCh37:
ChrMT:7445
GRCh38:
ChrMT:7445
MT-CO1, MT-TS1Mitochondrial non-syndromic sensorineural hearing lossPathogenic
(May 4, 2022)
criteria provided, single submitter
10.
GRCh37:
ChrMT:7445
GRCh38:
ChrMT:7445
MT-CO1, MT-TS1Mitochondrial non-syndromic sensorineural hearing lossPathogenic
(May 4, 2022)
criteria provided, single submitter
11.
GRCh37:
ChrMT:7445
GRCh38:
ChrMT:7445
MT-CO1, MT-TS1Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, Mitochondrial non-syndromic sensorineural hearing lossPathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
ChrMT:7453
GRCh38:
ChrMT:7453
MT-TS1neonatal lactic acidosis, Cytochrome-c oxidase deficiency diseasePathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
ChrMT:7460
GRCh38:
ChrMT:7460
MT-TS1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
14.
GRCh37:
ChrMT:7462
GRCh38:
ChrMT:7462
MT-TS1Cytochrome-c oxidase deficiency diseasePathogenic
(May 4, 2022)
criteria provided, single submitter
15.
GRCh37:
ChrMT:7465-7466
GRCh38:
ChrMT:7465-7466
MT-TS1Rare genetic deafness, not provided, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke,
Cytochrome-c oxidase deficiency disease
Pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
ChrMT:7466
GRCh38:
ChrMT:7466
MT-TS1not specified, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeConflicting interpretations of pathogenicity
(Jul 12, 2019)
criteria provided, conflicting interpretations
17.
GRCh37:
ChrMT:7468
GRCh38:
ChrMT:7468
MT-TS1not provided, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
ChrMT:7469
GRCh38:
ChrMT:7469
MT-TS1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
19.
GRCh37:
ChrMT:7471
GRCh38:
ChrMT:7471
MT-TS1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
20.
GRCh37:
ChrMT:7471
GRCh38:
ChrMT:7471
MT-TS1not specified, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign/Likely benign
(Jul 12, 2019)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
ChrMT:7472
GRCh38:
ChrMT:7472
MT-TS1not specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
22.
GRCh37:
ChrMT:7472
GRCh38:
ChrMT:7472
MT-TS1Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, not specifiedBenign/Likely benign
(Jul 12, 2019)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
ChrMT:7476
GRCh38:
ChrMT:7476
MT-TS1Mitochondrial diseaseBenign
(Jan 10, 2022)
reviewed by expert panel
FDA Recognized Database
24.
GRCh37:
ChrMT:7478
GRCh38:
ChrMT:7478
MT-TS1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
25.
GRCh37:
ChrMT:7479
GRCh38:
ChrMT:7479
MT-TS1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
26.
GRCh37:
ChrMT:7486
GRCh38:
ChrMT:7486
MT-TS1Progressive external ophthalmoplegiaUncertain significance
(Dec 22, 2016)
no assertion criteria provided
27.
GRCh37:
ChrMT:7487
GRCh38:
ChrMT:7487
MT-TS1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
28.
GRCh37:
ChrMT:7490
GRCh38:
ChrMT:7490
MT-TS1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
29.
GRCh37:
ChrMT:7493
GRCh38:
ChrMT:7493
MT-TS1not specified, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
ChrMT:7496
GRCh38:
ChrMT:7496
MT-TS1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
31.
GRCh37:
ChrMT:7497
GRCh38:
ChrMT:7497
MT-TS1Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, Cytochrome-c oxidase deficiency diseasePathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
ChrMT:7498
GRCh38:
ChrMT:7498
MT-TS1not specified, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
ChrMT:7499
GRCh38:
ChrMT:7499
MT-TS1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
34.
GRCh37:
ChrMT:7501
GRCh38:
ChrMT:7501
MT-TS1not specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
35.
GRCh37:
ChrMT:7501
GRCh38:
ChrMT:7501
MT-TS1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
36.
GRCh37:
ChrMT:7502
GRCh38:
ChrMT:7502
MT-TS1not specified, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeConflicting interpretations of pathogenicity
(Jul 12, 2019)
criteria provided, conflicting interpretations
37.
GRCh37:
ChrMT:7505
GRCh38:
ChrMT:7505
MT-TS1Cytochrome-c oxidase deficiency diseasePathogenic
(May 4, 2022)
criteria provided, single submitter
38.
GRCh37:
ChrMT:7510
GRCh38:
ChrMT:7510
MT-TS1Mitochondrial non-syndromic sensorineural hearing lossPathogenic
(Sep 1, 2000)
no assertion criteria provided
39.
GRCh37:
ChrMT:7511
GRCh38:
ChrMT:7511
MT-TS1Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, Cytochrome-c oxidase deficiency diseasePathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
ChrMT:7512
GRCh38:
ChrMT:7512
MT-TS1Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, MERRF/MELAS overlap syndrome, Cytochrome-c oxidase deficiency disease
Pathogenic/Likely pathogenic
(Jun 30, 2022)
criteria provided, multiple submitters, no conflicts
Format
Items per page
Sort by
Choose Destination