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Items: 37

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrMT:3236
GRCh38:
ChrMT:3236
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
2.
GRCh37:
ChrMT:3242
GRCh38:
ChrMT:3242
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
ChrMT:3243
GRCh38:
ChrMT:3243
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
ChrMT:3243
GRCh38:
ChrMT:3243
MT-TL1Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1, not provided, Glucose intolerance,
Stroke, Sensorineural hearing loss disorder, Short stature,
not specified, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, MERRF syndrome,
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, Diabetes-deafness syndrome maternally transmittedSee cases,
Cerebral palsy, ...see more
Pathogenic/Likely pathogenic
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
ChrMT:3244
GRCh38:
ChrMT:3244
MT-TL1not specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
6.
GRCh37:
ChrMT:3248
GRCh38:
ChrMT:3248
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
7.
GRCh37:
ChrMT:3249
GRCh38:
ChrMT:3249
MT-TL1Kearns-Sayre syndromePathogenic
(Jun 11, 2010)
no assertion criteria provided
8.
GRCh37:
ChrMT:3250
GRCh38:
ChrMT:3250
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
9.
GRCh37:
ChrMT:3251
GRCh38:
ChrMT:3251
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
ChrMT:3252
GRCh38:
ChrMT:3252
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
11.
GRCh37:
ChrMT:3252
GRCh38:
ChrMT:3252
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely pathogenic
(Jul 12, 2019)
criteria provided, single submitter
12.
GRCh37:
ChrMT:3254
GRCh38:
ChrMT:3254
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
13.
GRCh37:
ChrMT:3254
GRCh38:
ChrMT:3254
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
14.
GRCh37:
ChrMT:3255
GRCh38:
ChrMT:3255
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
ChrMT:3256
GRCh38:
ChrMT:3256
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(Jul 12, 2019)
criteria provided, single submitter
16.
GRCh37:
ChrMT:3258
GRCh38:
ChrMT:3258
MT-TL1Mitochondrial diseaseLikely pathogenic
(Aug 8, 2022)
reviewed by expert panel
FDA Recognized Database
17.
GRCh37:
ChrMT:3260
GRCh38:
ChrMT:3260
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(Jul 12, 2019)
criteria provided, single submitter
18.
GRCh37:
ChrMT:3261
GRCh38:
ChrMT:3261
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
19.
GRCh37:
ChrMT:3263
GRCh38:
ChrMT:3263
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
20.
GRCh37:
ChrMT:3264
GRCh38:
ChrMT:3264
MT-TL1not specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
21.
GRCh37:
ChrMT:3269
GRCh38:
ChrMT:3269
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
22.
GRCh37:
ChrMT:3271
GRCh38:
ChrMT:3271
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, MERRF syndrome, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke,
not specified
Pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
ChrMT:3272
GRCh38:
ChrMT:3272
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
24.
GRCh37:
ChrMT:3274
GRCh38:
ChrMT:3274
MT-TL1MERRF syndrome, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeConflicting interpretations of pathogenicity
(Aug 23, 2022)
criteria provided, conflicting interpretations
25.
GRCh37:
ChrMT:3275
GRCh38:
ChrMT:3275
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
26.
GRCh37:
ChrMT:3275
GRCh38:
ChrMT:3275
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
27.
GRCh37:
ChrMT:3275
GRCh38:
ChrMT:3275
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
28.
GRCh37:
ChrMT:3276
GRCh38:
ChrMT:3276
MT-TL1not specifiedUncertain significance
(Dec 19, 2012)
no assertion criteria provided
29.
GRCh37:
ChrMT:3277
GRCh38:
ChrMT:3277
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
30.
GRCh37:
ChrMT:3278
GRCh38:
ChrMT:3278
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
31.
GRCh37:
ChrMT:3280
GRCh38:
ChrMT:3280
MT-TL1Mitochondrial diseaseUncertain significance
(Aug 23, 2022)
reviewed by expert panel
FDA Recognized Database
32.
GRCh37:
ChrMT:3288
GRCh38:
ChrMT:3288
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely pathogenic
(Jul 12, 2019)
criteria provided, single submitter
33.
GRCh37:
ChrMT:3290
GRCh38:
ChrMT:3290
MT-TL1See casesUncertain significance
(Oct 19, 2018)
criteria provided, single submitter
34.
GRCh37:
ChrMT:3290
GRCh38:
ChrMT:3290
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
35.
GRCh37:
ChrMT:3291
GRCh38:
ChrMT:3291
MT-TL1Mitochondrial diseaseLikely pathogenic
(Oct 3, 2022)
reviewed by expert panel
FDA Recognized Database
36.
GRCh37:
ChrMT:3302
GRCh38:
ChrMT:3302
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
ChrMT:3303
GRCh38:
ChrMT:3303
MT-TL1Juvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
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