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Items: 1 to 100 of 403

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:99322136
GRCh38:
Chr6:98874260
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
2.
GRCh37:
Chr6:99322143
GRCh38:
Chr6:98874267
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
3.
GRCh37:
Chr6:99322145
GRCh38:
Chr6:98874269
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
4.
GRCh37:
Chr6:99322149-99322151
GRCh38:
Chr6:98874273-98874275
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
5.
GRCh37:
Chr6:99322149
GRCh38:
Chr6:98874273
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Benign
(Aug 10, 2017)
criteria provided, single submitter
6.
GRCh37:
Chr6:99322150
GRCh38:
Chr6:98874274
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
7.
GRCh37:
Chr6:99322151
GRCh38:
Chr6:98874275
FBXL4not specified, Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Benign
(Aug 10, 2017)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr6:99322161
GRCh38:
Chr6:98874285
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr6:99322182
GRCh38:
Chr6:98874306
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Aug 10, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr6:99322184
GRCh38:
Chr6:98874308
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Aug 10, 2017)
criteria provided, single submitter
11.
GRCh37:
Chr6:99322194
GRCh38:
Chr6:98874318
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr6:99322224
GRCh38:
Chr6:98874348
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr6:99322230
GRCh38:
Chr6:98874354
FBXL4not provided, Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Conflicting interpretations of pathogenicity
(May 23, 2018)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr6:99322232
GRCh38:
Chr6:98874356
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
15.
GRCh37:
Chr6:99322232
GRCh38:
Chr6:98874356
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
16.
GRCh37:
Chr6:99322233
GRCh38:
Chr6:98874357
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
17.
GRCh37:
Chr6:99322241
GRCh38:
Chr6:98874365
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
18.
GRCh37:
Chr6:99322242
GRCh38:
Chr6:98874366
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
19.
GRCh37:
Chr6:99322247
GRCh38:
Chr6:98874371
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
20.
GRCh37:
Chr6:99322248
GRCh38:
Chr6:98874372
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Conflicting interpretations of pathogenicity
(Nov 16, 2017)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr6:99322248
GRCh38:
Chr6:98874372
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Aug 10, 2017)
criteria provided, single submitter
22.
GRCh37:
Chr6:99322256
GRCh38:
Chr6:98874380
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
23.
GRCh37:
Chr6:99322260
GRCh38:
Chr6:98874384
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
24.
GRCh37:
Chr6:99322269
GRCh38:
Chr6:98874393
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr6:99322270
GRCh38:
Chr6:98874394
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Aug 10, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr6:99322272
GRCh38:
Chr6:98874396
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
27.
GRCh37:
Chr6:99322275
GRCh38:
Chr6:98874399
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
28.
GRCh37:
Chr6:99322275
GRCh38:
Chr6:98874399
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
29.
GRCh37:
Chr6:99322281
GRCh38:
Chr6:98874405
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr6:99322281
GRCh38:
Chr6:98874405
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
31.
GRCh37:
Chr6:99322291
GRCh38:
Chr6:98874415
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr6:99322297
GRCh38:
Chr6:98874421
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
33.
GRCh37:
Chr6:99322297
GRCh38:
Chr6:98874421
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr6:99322298
GRCh38:
Chr6:98874422
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
35.
GRCh37:
Chr6:99322299
GRCh38:
Chr6:98874423
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
36.
GRCh37:
Chr6:99322299
GRCh38:
Chr6:98874423
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr6:99322307
GRCh38:
Chr6:98874431
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
38.
GRCh37:
Chr6:99322317
GRCh38:
Chr6:98874441
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Pathogenic/Likely pathogenic
(Nov 16, 2017)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr6:99322326
GRCh38:
Chr6:98874450
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
40.
GRCh37:
Chr6:99322327
GRCh38:
Chr6:98874451
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
41.
GRCh37:
Chr6:99322329-99322333
GRCh38:
Chr6:98874453-98874457
FBXL4not specifiedLikely benign
(Mar 28, 2017)
criteria provided, single submitter
42.
GRCh37:
Chr6:99322331
GRCh38:
Chr6:98874455
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr6:99323273
GRCh38:
Chr6:98875397
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
44.
GRCh37:
Chr6:99323280
GRCh38:
Chr6:98875404
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
45.
GRCh37:
Chr6:99323285
GRCh38:
Chr6:98875409
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
46.
GRCh37:
Chr6:99323293
GRCh38:
Chr6:98875417
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr6:99323294
GRCh38:
Chr6:98875418
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
48.
GRCh37:
Chr6:99323295
GRCh38:
Chr6:98875419
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Aug 10, 2017)
criteria provided, single submitter
49.
GRCh37:
Chr6:99323299
GRCh38:
Chr6:98875423
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Aug 10, 2017)
criteria provided, single submitter
50.
GRCh37:
Chr6:99323304
GRCh38:
Chr6:98875428
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
51.
GRCh37:
Chr6:99323306
GRCh38:
Chr6:98875430
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Pathogenic
(Aug 10, 2017)
criteria provided, single submitter
52.
GRCh37:
Chr6:99323308
GRCh38:
Chr6:98875432
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
53.
GRCh37:
Chr6:99323312
GRCh38:
Chr6:98875436
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
54.
GRCh37:
Chr6:99323321
GRCh38:
Chr6:98875445
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
55.
GRCh37:
Chr6:99323323
GRCh38:
Chr6:98875447
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
56.
GRCh37:
Chr6:99323331
GRCh38:
Chr6:98875455
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
57.
GRCh37:
Chr6:99323337
GRCh38:
Chr6:98875461
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr6:99323341
GRCh38:
Chr6:98875465
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Pathogenic
(Aug 10, 2017)
criteria provided, single submitter
59.
GRCh37:
Chr6:99323344-99323345
GRCh38:
Chr6:98875468-98875469
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Pathogenic
(Dec 3, 2017)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr6:99323351-99323352
GRCh38:
Chr6:98875475-98875476
FBXL4not provided, Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Pathogenic
(Aug 10, 2017)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr6:99323362
GRCh38:
Chr6:98875486
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
62.
GRCh37:
Chr6:99323365
GRCh38:
Chr6:98875489
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
63.
GRCh37:
Chr6:99323367
GRCh38:
Chr6:98875491
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
64.
GRCh37:
Chr6:99323371
GRCh38:
Chr6:98875495
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Aug 10, 2017)
criteria provided, single submitter
65.
GRCh37:
Chr6:99323376
GRCh38:
Chr6:98875500
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
66.
GRCh37:
Chr6:99323386
GRCh38:
Chr6:98875510
FBXL4not providedLikely pathogenic
(Jul 27, 2017)
no assertion criteria provided
67.
GRCh37:
Chr6:99323399
GRCh38:
Chr6:98875523
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
68.
GRCh37:
Chr6:99323401
GRCh38:
Chr6:98875525
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
69.
GRCh37:
Chr6:99323407
GRCh38:
Chr6:98875531
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Aug 10, 2017)
criteria provided, single submitter
70.
GRCh37:
Chr6:99323413
GRCh38:
Chr6:98875537
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
71.
GRCh37:
Chr6:99323424
GRCh38:
Chr6:98875548
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
72.
GRCh37:
Chr6:99323424
GRCh38:
Chr6:98875548
FBXL4not specified, not provided, Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
Benign
(Aug 10, 2017)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr6:99323426
GRCh38:
Chr6:98875550
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
74.
GRCh37:
Chr6:99323427
GRCh38:
Chr6:98875551
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
75.
GRCh37:
Chr6:99323429
GRCh38:
Chr6:98875553
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
76.
GRCh37:
Chr6:99323430-99323447
GRCh38:
Chr6:98875554-98875571
FBXL4not provided, Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Aug 10, 2017)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr6:99323438
GRCh38:
Chr6:98875562
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Pathogenic
(Aug 10, 2017)
criteria provided, single submitter
78.
GRCh37:
Chr6:99323440
GRCh38:
Chr6:98875564
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
79.
GRCh37:
Chr6:99323444
GRCh38:
Chr6:98875568
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
80.
GRCh37:
Chr6:99323447
GRCh38:
Chr6:98875571
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
81.
GRCh37:
Chr6:99323453
GRCh38:
Chr6:98875577
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Nov 16, 2017)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr6:99323460
GRCh38:
Chr6:98875584
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
83.
GRCh37:
Chr6:99323465
GRCh38:
Chr6:98875589
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
84.
GRCh37:
Chr6:99323467
GRCh38:
Chr6:98875591
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
85.
GRCh37:
Chr6:99323475
GRCh38:
Chr6:98875599
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
86.
GRCh37:
Chr6:99323485
GRCh38:
Chr6:98875609
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
87.
GRCh37:
Chr6:99323510
GRCh38:
Chr6:98875634
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
88.
GRCh37:
Chr6:99323525
GRCh38:
Chr6:98875649
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
89.
GRCh37:
Chr6:99323529
GRCh38:
Chr6:98875653
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
90.
GRCh37:
Chr6:99323544
GRCh38:
Chr6:98875668
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
91.
GRCh37:
Chr6:99323548
GRCh38:
Chr6:98875672
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
92.
GRCh37:
Chr6:99323549
GRCh38:
Chr6:98875673
FBXL4Mitochondrial encephalomyopathy, not provided, Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type),
Global developmental delay, Mitochondrial encephalomyopathy
Pathogenic/Likely pathogenic
(Aug 10, 2017)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr6:99323551
GRCh38:
Chr6:98875675
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Aug 10, 2017)
criteria provided, single submitter
94.
GRCh37:
Chr6:99323553
GRCh38:
Chr6:98875677
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
95.
GRCh37:
Chr6:99323553
GRCh38:
Chr6:98875677
FBXL4not providedLikely pathogenic
(Apr 29, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr6:99323565
GRCh38:
Chr6:98875689
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
97.
GRCh37:
Chr6:99323571
GRCh38:
Chr6:98875695
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
98.
GRCh37:
Chr6:99323582
GRCh38:
Chr6:98875706
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Aug 10, 2017)
criteria provided, single submitter
99.
GRCh37:
Chr6:99323593
GRCh38:
Chr6:98875717
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
100.
GRCh37:
Chr6:99323594
GRCh38:
Chr6:98875718
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
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