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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: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:8296
GRCh38:
ChrMT:8296
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
9.
GRCh37:
ChrMT:8298
GRCh38:
ChrMT:8298
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
10.
GRCh37:
ChrMT:8299
GRCh38:
ChrMT:8299
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely pathogenic
(Jul 12, 2019)
criteria provided, single submitter
11.
GRCh37:
ChrMT:8300
GRCh38:
ChrMT:8300
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
12.
GRCh37:
ChrMT:8301
GRCh38:
ChrMT:8301
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
13.
GRCh37:
ChrMT:8308
GRCh38:
ChrMT:8308
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
14.
GRCh37:
ChrMT:8311
GRCh38:
ChrMT:8311
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
15.
GRCh37:
ChrMT:8311
GRCh38:
ChrMT:8311
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
16.
GRCh37:
ChrMT:8313
GRCh38:
ChrMT:8313
MT-TKMitochondrial DNA depletion syndrome 1Pathogenic
(Oct 1, 1997)
no assertion criteria provided
17.
GRCh37:
ChrMT:8315
GRCh38:
ChrMT:8315
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
18.
GRCh37:
ChrMT:8319
GRCh38:
ChrMT:8319
MT-TKKearns-Sayre syndrome, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeConflicting interpretations of pathogenicity
(Feb 25, 2022)
criteria provided, conflicting interpretations
19.
GRCh37:
ChrMT:8326
GRCh38:
ChrMT:8326
MT-TKnot specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
20.
GRCh37:
ChrMT:8328
GRCh38:
ChrMT:8328
MT-TKnot specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
21.
GRCh37:
ChrMT:8331
GRCh38:
ChrMT:8331
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
22.
GRCh37:
ChrMT:8337
GRCh38:
ChrMT:8337
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
23.
GRCh37:
ChrMT:8338
GRCh38:
ChrMT:8338
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
24.
GRCh37:
ChrMT:8340-8341
GRCh38:
ChrMT:8340-8341
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
25.
GRCh37:
ChrMT:8342
GRCh38:
ChrMT:8342
MT-TKnot specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
26.
GRCh37:
ChrMT:8343
GRCh38:
ChrMT:8343
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
27.
GRCh37:
ChrMT:8344
GRCh38:
ChrMT:8344
MT-TKMitochondrial diseasePathogenic
(Nov 3, 2021)
reviewed by expert panel
FDA Recognized Database
28.
GRCh37:
ChrMT:8345
GRCh38:
ChrMT:8345
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
29.
GRCh37:
ChrMT:8346
GRCh38:
ChrMT:8346
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
30.
GRCh37:
ChrMT:8347
GRCh38:
ChrMT:8347
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
31.
GRCh37:
ChrMT:8348
GRCh38:
ChrMT:8348
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND stroke, not providedBenign/Likely benign
(Jul 12, 2019)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
ChrMT:8349
GRCh38:
ChrMT:8349
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
33.
GRCh37:
ChrMT:8350
GRCh38:
ChrMT:8350
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
34.
GRCh37:
ChrMT:8350-13450
GRCh38:
ChrMT:8350-13450
Pearson syndromePathogenic
(Jun 12, 2019)
no assertion criteria provided
35.
GRCh37:
ChrMT:8356
GRCh38:
ChrMT:8356
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
ChrMT:8358
GRCh38:
ChrMT:8358
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
37.
GRCh37:
ChrMT:8360
GRCh38:
ChrMT:8360
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
38.
GRCh37:
ChrMT:8361
GRCh38:
ChrMT:8361
MT-TKMERRF syndromePathogenic
(Dec 1, 2003)
no assertion criteria provided
39.
GRCh37:
ChrMT:8362
GRCh38:
ChrMT:8362
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
ChrMT:8363
GRCh38:
ChrMT:8363
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
ChrMT:8364
GRCh38:
ChrMT:8364
MT-TKJuvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
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