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Items: 35

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:6003-11220
GRCh38:
ChrMT:6003-11220
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
4.
GRCh37:
ChrMT:6468-15586
GRCh38:
ChrMT:6468-15586
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
5.
GRCh37:
ChrMT:7126-13988
GRCh38:
ChrMT:7126-13988
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
6.
GRCh37:
ChrMT:7730-11255
GRCh38:
ChrMT:7730-11255
MT-CO2, MT-ATP8, MT-ATP6, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-TG, MT-TK, MT-TRMitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
7.
GRCh37:
ChrMT:8290-13040
GRCh38:
ChrMT:8290-13040
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
8.
GRCh37:
ChrMT:8350-13450
GRCh38:
ChrMT:8350-13450
Pearson syndromePathogenic
(Jun 12, 2019)
no assertion criteria provided
9.
GRCh37:
ChrMT:8470-13446
GRCh38:
ChrMT:8470-13446
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
10.
GRCh37:
ChrMT:8480-13440
GRCh38:
ChrMT:8480-13440
Pearson syndromePathogenic
(Jun 12, 2019)
no assertion criteria provided
11.
GRCh37:
ChrMT:8585-12965
GRCh38:
ChrMT:8585-12965
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
12.
GRCh37:
ChrMT:8815-13722
GRCh38:
ChrMT:8815-13722
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
13.
GRCh37:
ChrMT:8839-14895
GRCh38:
ChrMT:8839-14895
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
14.
GRCh37:
ChrMT:10105-15066
GRCh38:
ChrMT:10105-15066
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
15.
GRCh37:
ChrMT:10405
GRCh38:
ChrMT:10405
MT-TRJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
16.
GRCh37:
ChrMT:10406
GRCh38:
ChrMT:10406
MT-TRMitochondrial disease, Juvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
ChrMT:10408
GRCh38:
ChrMT:10408
MT-TRJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely pathogenic
(Jul 12, 2019)
criteria provided, single submitter
18.
GRCh37:
ChrMT:10410
GRCh38:
ChrMT:10410
MT-TRJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
19.
GRCh37:
ChrMT:10410
GRCh38:
ChrMT:10410
MT-TRJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
20.
GRCh37:
ChrMT:10411
GRCh38:
ChrMT:10411
MT-TRJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
21.
GRCh37:
ChrMT:10420
GRCh38:
ChrMT:10420
MT-TRJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
22.
GRCh37:
ChrMT:10427
GRCh38:
ChrMT:10427
MT-TRJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
23.
GRCh37:
ChrMT:10437
GRCh38:
ChrMT:10437
MT-TRnot specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
24.
GRCh37:
ChrMT:10438
GRCh38:
ChrMT:10438
MT-TRMitochondrial diseasePathogenic
(May 4, 2022)
criteria provided, single submitter
25.
GRCh37:
ChrMT:10440
GRCh38:
ChrMT:10440
MT-TRJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
26.
GRCh37:
ChrMT:10446
GRCh38:
ChrMT:10446
MT-TRJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
27.
GRCh37:
ChrMT:10448
GRCh38:
ChrMT:10448
MT-TRJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
28.
GRCh37:
ChrMT:10450
GRCh38:
ChrMT:10450
MT-TRMitochondrial diseasePathogenic
(May 4, 2022)
criteria provided, single submitter
29.
GRCh37:
ChrMT:10454
GRCh38:
ChrMT:10454
MT-TRJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
30.
GRCh37:
ChrMT:10455
GRCh38:
ChrMT:10455
MT-TRMitochondrial diseaseUncertain significance
(Dec 10, 2021)
reviewed by expert panel
FDA Recognized Database
31.
GRCh37:
ChrMT:10456
GRCh38:
ChrMT:10456
MT-TRJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
32.
GRCh37:
ChrMT:10457
GRCh38:
ChrMT:10457
MT-TRJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
33.
GRCh37:
ChrMT:10460
GRCh38:
ChrMT:10460
MT-TRJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely pathogenic
(Jul 12, 2019)
criteria provided, single submitter
34.
GRCh37:
ChrMT:10462
GRCh38:
ChrMT:10462
MT-TRJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
35.
GRCh37:
ChrMT:10463
GRCh38:
ChrMT:10463
MT-TRJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
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