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Items: 1 to 100 of 180

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
SCO2Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiencyPathogenic
(May 1, 2002)
no assertion criteria provided
2.
GRCh37:
Chr22:50962065
GRCh38:
Chr22:50523636
TYMP, SCO2, NCAPH2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Cytochrome-c oxidase deficiency, not specified,
not provided, Fatal Infantile Cardioencephalomyopathy
Benign/Likely benign
(Dec 9, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr22:50962077
GRCh38:
Chr22:50523648
SCO2, NCAPH2not specifiedLikely benign
(Dec 28, 2012)
criteria provided, single submitter
4.
GRCh37:
Chr22:50962078
GRCh38:
Chr22:50523649
SCO2, NCAPH2Cytochrome-c oxidase deficiency, not specified, Fatal Infantile Cardioencephalomyopathy
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
5.
GRCh37:
Chr22:50962103
GRCh38:
Chr22:50523674
SCO2, NCAPH2not specifiedLikely benign
(Dec 10, 2015)
criteria provided, single submitter
6.
GRCh37:
Chr22:50962103
GRCh38:
Chr22:50523674
SCO2, NCAPH2Cytochrome-c oxidase deficiency, Fatal Infantile CardioencephalomyopathyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr22:50962127
GRCh38:
Chr22:50523698
SCO2, NCAPH2not specifiedLikely benign
(Nov 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr22:50962144
GRCh38:
Chr22:50523715
SCO2, NCAPH2not specifiedUncertain significance
(Apr 26, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr22:50962167
GRCh38:
Chr22:50523738
SCO2, NCAPH2Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiencyPathogenic
(Nov 1, 1999)
no assertion criteria provided
10.
GRCh37:
Chr22:50962208
GRCh38:
Chr22:50523779
TYMP, SCO2, NCAPH2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Cytochrome-c oxidase deficiency, not specified,
Fatal Infantile Cardioencephalomyopathy
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr22:50962223
GRCh38:
Chr22:50523794
SCO2, NCAPH2not providedLikely pathogenic
(Mar 8, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr22:50962259
GRCh38:
Chr22:50523830
TYMP, SCO2, NCAPH2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Cytochrome-c oxidase deficiency, not specified,
Fatal Infantile Cardioencephalomyopathy
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr22:50962304
GRCh38:
Chr22:50523875
SCO2, NCAPH2not specifiedBenign
(Apr 14, 2015)
criteria provided, single submitter
14.
GRCh37:
Chr22:50962306
GRCh38:
Chr22:50523877
SCO2, NCAPH2not providedLikely pathogenic
(Aug 12, 2014)
criteria provided, single submitter
15.
GRCh37:
Chr22:50962314
GRCh38:
Chr22:50523885
SCO2, NCAPH2not specifiedLikely benign
(May 18, 2012)
criteria provided, single submitter
16.
GRCh37:
Chr22:50962324
GRCh38:
Chr22:50523895
SCO2, NCAPH2not specifiedUncertain significance
(Dec 10, 2014)
criteria provided, single submitter
17.
GRCh37:
Chr22:50962330
GRCh38:
Chr22:50523901
SCO2, NCAPH2Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiencyPathogenic
(Mar 22, 2000)
no assertion criteria provided
18.
GRCh37:
Chr22:50962423
GRCh38:
Chr22:50523994
SCO2, NCAPH2Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Myopia 6, not provided
Pathogenic
(May 18, 2017)
criteria provided, single submitter
19.
GRCh37:
Chr22:50962443
GRCh38:
Chr22:50524014
SCO2, NCAPH2Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiencyPathogenic
(Mar 15, 2004)
no assertion criteria provided
20.
GRCh37:
Chr22:50962463
GRCh38:
Chr22:50524034
SCO2, NCAPH2not specifiedUncertain significance
(May 5, 2017)
criteria provided, single submitter
21.
GRCh37:
Chr22:50962500
GRCh38:
Chr22:50524071
SCO2, NCAPH2Myopia 6Pathogenic
(May 2, 2013)
no assertion criteria provided
22.
GRCh37:
Chr22:50962514
GRCh38:
Chr22:50524085
TYMP, SCO2, NCAPH2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Cytochrome-c oxidase deficiency, not specified,
Fatal Infantile Cardioencephalomyopathy
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr22:50962565
GRCh38:
Chr22:50524136
SCO2, NCAPH2Cytochrome-c oxidase deficiency, Fatal Infantile CardioencephalomyopathyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr22:50962573
GRCh38:
Chr22:50524144
SCO2, NCAPH2Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiencyPathogenic
(Mar 22, 2000)
no assertion criteria provided
25.
GRCh37:
Chr22:50962597
GRCh38:
Chr22:50524168
SCO2, NCAPH2Cytochrome-c oxidase deficiency, Fatal Infantile CardioencephalomyopathyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr22:50962604
GRCh38:
Chr22:50524175
SCO2, NCAPH2Cytochrome-c oxidase deficiency, not specified, Fatal Infantile Cardioencephalomyopathy
Conflicting interpretations of pathogenicity
(Jul 18, 2016)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr22:50962640
GRCh38:
Chr22:50524211
SCO2, NCAPH2Cytochrome-c oxidase deficiency, not specified, not provided,
Fatal Infantile Cardioencephalomyopathy
Conflicting interpretations of pathogenicity
(Aug 31, 2016)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr22:50962679
GRCh38:
Chr22:50524250
SCO2, NCAPH2Cytochrome-c oxidase deficiency, Fatal Infantile CardioencephalomyopathyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr22:50962684
GRCh38:
Chr22:50524255
SCO2, NCAPH2Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Myopia 6Pathogenic
(May 2, 2013)
no assertion criteria provided
30.
GRCh37:
Chr22:50962725
GRCh38:
Chr22:50524296
SCO2, NCAPH2not specifiedLikely benign
(Jun 18, 2014)
criteria provided, single submitter
31.
GRCh37:
Chr22:50962734
GRCh38:
Chr22:50524305
SCO2, NCAPH2Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiencyPathogenic
(Nov 1, 2008)
no assertion criteria provided
32.
GRCh37:
Chr22:50962782
GRCh38:
Chr22:50524353
TYMP, SCO2, NCAPH2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Cytochrome-c oxidase deficiency, not specified,
Fatal Infantile Cardioencephalomyopathy
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr22:50962824-50962825
GRCh38:
Chr22:50524395-50524396
SCO2, NCAPH2Primary dilated cardiomyopathyLikely pathogenic
(Dec 3, 2015)
criteria provided, single submitter
34.
GRCh37:
Chr22:50962837
GRCh38:
Chr22:50524408
SCO2, NCAPH2Cytochrome-c oxidase deficiency, Fatal Infantile CardioencephalomyopathyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr22:50963892
GRCh38:
Chr22:50525463
SCO2not specifiedLikely benign
(Oct 1, 2015)
criteria provided, single submitter
36.
GRCh37:
Chr22:50963905
GRCh38:
Chr22:50525476
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Cytochrome-c oxidase deficiency, not specified,
Fatal Infantile Cardioencephalomyopathy
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr22:50963938
GRCh38:
Chr22:50525509
SCO2Cytochrome-c oxidase deficiency, Fatal Infantile CardioencephalomyopathyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr22:50963965
GRCh38:
Chr22:50525536
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Cytochrome-c oxidase deficiency, Fatal Infantile Cardioencephalomyopathy
Benign
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr22:50963970
GRCh38:
Chr22:50525541
SCO2Cytochrome-c oxidase deficiency, Fatal Infantile CardioencephalomyopathyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr22:50964001
GRCh38:
Chr22:50525572
SCO2Cytochrome-c oxidase deficiency, Fatal Infantile CardioencephalomyopathyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr22:50964019-50964022
GRCh38:
Chr22:50525590-50525593
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Cytochrome-c oxidase deficiency, Fatal Infantile Cardioencephalomyopathy
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr22:50964029
GRCh38:
Chr22:50525600
SCO2Cytochrome-c oxidase deficiency, Fatal Infantile CardioencephalomyopathyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr22:50964170
GRCh38:
Chr22:50525741
SCO2Cytochrome-c oxidase deficiency, Fatal Infantile CardioencephalomyopathyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr22:50964189
GRCh38:
Chr22:50525760
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Cytochrome-c oxidase deficiency, not specified,
Fatal Infantile Cardioencephalomyopathy
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
45.
GRCh37:
Chr22:50964196
GRCh38:
Chr22:50525767
TYMP, SCO2Cytochrome-c oxidase deficiency, not specified, Fatal Infantile Cardioencephalomyopathy
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
46.
GRCh37:
Chr22:50964205
GRCh38:
Chr22:50525776
TYMP, SCO2Cytochrome-c oxidase deficiency, Fatal Infantile CardioencephalomyopathyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr22:50964209
GRCh38:
Chr22:50525780
TYMP, SCO2not specifiedUncertain significance
(May 12, 2014)
criteria provided, single submitter
48.
GRCh37:
Chr22:50964216
GRCh38:
Chr22:50525787
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Benign
(Jan 14, 2016)
no assertion criteria provided
49.
GRCh37:
Chr22:50964217
GRCh38:
Chr22:50525788
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
50.
GRCh37:
Chr22:50964236
GRCh38:
Chr22:50525807
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
51.
GRCh37:
Chr22:50964236
GRCh38:
Chr22:50525807
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type), not specified, Fatal Infantile Cardioencephalomyopathy
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr22:50964238
GRCh38:
Chr22:50525809
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jun 1, 2000)
no assertion criteria provided
53.
GRCh37:
Chr22:50964247
GRCh38:
Chr22:50525818
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Benign
(Jan 14, 2016)
no assertion criteria provided
54.
GRCh37:
Chr22:50964248-50964253
GRCh38:
Chr22:50525819-50525824
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
55.
GRCh37:
Chr22:50964255
GRCh38:
Chr22:50525826
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type), not specified, Fatal Infantile Cardioencephalomyopathy
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr22:50964259
GRCh38:
Chr22:50525830
TYMP, SCO2not specifiedLikely benign
(Mar 30, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr22:50964288
GRCh38:
Chr22:50525859
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
58.
GRCh37:
Chr22:50964297
GRCh38:
Chr22:50525868
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
59.
GRCh37:
Chr22:50964302-50964321
GRCh38:
Chr22:50525873-50525892
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
60.
GRCh37:
Chr22:50964327
GRCh38:
Chr22:50525898
TYMP, SCO2not specifiedUncertain significance
(Aug 2, 2017)
criteria provided, single submitter
61.
GRCh37:
Chr22:50964328
GRCh38:
Chr22:50525899
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
62.
GRCh37:
Chr22:50964337
GRCh38:
Chr22:50525908
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
63.
GRCh37:
Chr22:50964337
GRCh38:
Chr22:50525908
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
64.
GRCh37:
Chr22:50964348
GRCh38:
Chr22:50525919
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
65.
GRCh37:
Chr22:50964359
GRCh38:
Chr22:50525930
TYMP, SCO2not specifiedLikely benign
(Aug 18, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr22:50964428
GRCh38:
Chr22:50525999
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
67.
GRCh37:
Chr22:50964429
GRCh38:
Chr22:50526000
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
68.
GRCh37:
Chr22:50964440
GRCh38:
Chr22:50526011
TYMP, SCO2not specifiedBenign
(May 9, 2013)
criteria provided, single submitter
69.
GRCh37:
Chr22:50964446
GRCh38:
Chr22:50526017
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Cytochrome-c oxidase deficiency, not specified,
Fatal Infantile Cardioencephalomyopathy
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr22:50964448
GRCh38:
Chr22:50526019
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
71.
GRCh37:
Chr22:50964511
GRCh38:
Chr22:50526082
TYMP, SCO2not specifiedUncertain significance
(Apr 10, 2013)
criteria provided, single submitter
72.
GRCh37:
Chr22:50964511
GRCh38:
Chr22:50526082
TYMP, SCO2not providedLikely pathogenic
(Sep 23, 2013)
criteria provided, single submitter
73.
GRCh37:
Chr22:50964519
GRCh38:
Chr22:50526090
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
74.
GRCh37:
Chr22:50964532-50964537
GRCh38:
Chr22:50526103-50526108
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
75.
GRCh37:
Chr22:50964554
GRCh38:
Chr22:50526125
TYMP, SCO2Cytochrome-c oxidase deficiency, not specified, Fatal Infantile Cardioencephalomyopathy
Conflicting interpretations of pathogenicity
(Dec 19, 2016)
criteria provided, conflicting interpretations
76.
GRCh37:
Chr22:50964560
GRCh38:
Chr22:50526131
TYMP, SCO2not specifiedLikely benign
(Sep 13, 2013)
criteria provided, single submitter
77.
GRCh37:
Chr22:50964570
GRCh38:
Chr22:50526141
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
78.
GRCh37:
Chr22:50964571
GRCh38:
Chr22:50526142
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
79.
GRCh37:
Chr22:50964571
GRCh38:
Chr22:50526142
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
80.
GRCh37:
Chr22:50964572
GRCh38:
Chr22:50526143
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
81.
GRCh37:
Chr22:50964572
GRCh38:
Chr22:50526143
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
82.
GRCh37:
Chr22:50964663
GRCh38:
Chr22:50526234
TYMP, SCO2not specifiedBenign
(Nov 1, 2011)
criteria provided, single submitter
83.
GRCh37:
Chr22:50964670
GRCh38:
Chr22:50526241
TYMP, SCO2not providedLikely pathogenic
(Oct 17, 2014)
criteria provided, single submitter
84.
GRCh37:
Chr22:50964673
GRCh38:
Chr22:50526244
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
85.
GRCh37:
Chr22:50964675
GRCh38:
Chr22:50526246
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
86.
GRCh37:
Chr22:50964687
GRCh38:
Chr22:50526258
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type), Cytochrome-c oxidase deficiency, Fatal Infantile Cardioencephalomyopathy
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr22:50964697
GRCh38:
Chr22:50526268
TYMP, SCO2Cytochrome-c oxidase deficiency, Fatal Infantile CardioencephalomyopathyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr22:50964707
GRCh38:
Chr22:50526278
TYMP, SCO2not specified, not providedLikely benign
(Sep 15, 2017)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr22:50964722
GRCh38:
Chr22:50526293
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
90.
GRCh37:
Chr22:50964746
GRCh38:
Chr22:50526317
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
91.
GRCh37:
Chr22:50964747
GRCh38:
Chr22:50526318
TYMP, SCO2not specifiedUncertain significance
(Nov 8, 2012)
criteria provided, single submitter
92.
GRCh37:
Chr22:50964760
GRCh38:
Chr22:50526331
TYMP, SCO2not specifiedBenign
(Apr 3, 2012)
criteria provided, single submitter
93.
GRCh37:
Chr22:50964763
GRCh38:
Chr22:50526334
TYMP, SCO2not specifiedBenign
(Sep 14, 2015)
criteria provided, single submitter
94.
GRCh37:
Chr22:50964767
GRCh38:
Chr22:50526338
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
95.
GRCh37:
Chr22:50964790
GRCh38:
Chr22:50526361
TYMP, SCO2Cytochrome-c oxidase deficiency, Fatal Infantile CardioencephalomyopathyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr22:50964804
GRCh38:
Chr22:50526375
TYMP, SCO2not specifiedUncertain significance
(Apr 4, 2017)
criteria provided, single submitter
97.
GRCh37:
Chr22:50964806
GRCh38:
Chr22:50526377
TYMP, SCO2Cytochrome-c oxidase deficiency, Fatal Infantile CardioencephalomyopathyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr22:50964815-50964824
GRCh38:
Chr22:50526386-50526395
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
99.
GRCh37:
Chr22:50964823-50964840
GRCh38:
Chr22:50526394-50526411
TYMP, SCO2Mitochondrial DNA depletion syndrome 1 (MNGIE type)Pathogenic
(Jan 14, 2016)
no assertion criteria provided
100.
GRCh37:
Chr22:50964839
GRCh38:
Chr22:50526410
TYMP, SCO2Cytochrome-c oxidase deficiency, Fatal Infantile CardioencephalomyopathyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
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