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Items: 1 to 100 of 120

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr8:103236310
GRCh38:
Chr8:102224082
RRM2BA172T, A244T, A120TMitochondrial DNA depletion syndrome 8a, not provided, Inborn genetic diseases
Uncertain significance
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr8:103237253
GRCh38:
Chr8:102225025
RRM2Bnot provided, Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5,
Mitochondrial DNA depletion syndrome 8a		Likely benign
(Jan 14, 2022)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr8:103236290
GRCh38:
Chr8:102224062
RRM2Bnot provided, Mitochondrial DNA depletion syndrome 8a, Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		Likely benign
(May 3, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr8:103237112
GRCh38:
Chr8:102224884
RRM2BMitochondrial DNA depletion syndrome 8a, Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5,
not provided		Likely pathogenic
(Mar 28, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr8:103226316
GRCh38:
Chr8:102214088
RRM2BR252K, R324K, R200Knot provided, Mitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5,
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction		Uncertain significance
(Apr 10, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr8:103231113
GRCh38:
Chr8:102218885
RRM2BI153V, I205V, I277VRod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8a,
not provided		Uncertain significance
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr8:103238209
GRCh38:
Chr8:102225981
RRM2BK158N, K34N, K86NRod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8a,
not provided		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr8:103251007
GRCh38:
Chr8:102238779
RRM2BP15LProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8a, Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction,
not provided		Benign/Likely benign
(Nov 5, 2021)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr8:103250899
GRCh38:
Chr8:102238671
RRM2BR51Qnot provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8a,
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction		Uncertain significance
(Feb 7, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr8:103244462
GRCh38:
Chr8:102232234
RRM2BR112H, R40Hnot provided, Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5,
Mitochondrial DNA depletion syndrome 8a		Uncertain significance
(Dec 27, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr8:103220395
GRCh38:
Chr8:102208167
RRM2BT289R, T341R, T413RMitochondrial DNA depletion syndrome 8aUncertain significance
(Aug 7, 2018)		criteria provided, single submitter
12.
GRCh37:
Chr8:103220407
GRCh38:
Chr8:102208179
RRM2BM285K, M337K, M409KMitochondrial DNA depletion syndrome 8aUncertain significance
(Mar 1, 2018)		criteria provided, single submitter
13.
GRCh37:
Chr8:103250786-103250787
GRCh38:
Chr8:102238558-102238559
RRM2BMitochondrial DNA depletion syndrome 8aLikely pathogenic
(Sep 25, 2019)		criteria provided, single submitter
14.
GRCh37:
Chr8:103244372
GRCh38:
Chr8:102232144
RRM2BMitochondrial DNA depletion syndrome 8aLikely pathogeniccriteria provided, single submitter
15.
GRCh37:
Chr8:103218839
GRCh38:
Chr8:102206611
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
16.
GRCh37:
Chr8:103218809
GRCh38:
Chr8:102206581
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr8:103217633
GRCh38:
Chr8:102205405
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
18.
GRCh37:
Chr8:103218697
GRCh38:
Chr8:102206469
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
19.
GRCh37:
Chr8:103217476
GRCh38:
Chr8:102205248
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
20.
GRCh37:
Chr8:103216888
GRCh38:
Chr8:102204660
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
21.
GRCh37:
Chr8:103251295
GRCh38:
Chr8:102239067
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
22.
GRCh37:
Chr8:103219466
GRCh38:
Chr8:102207238
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
23.
GRCh37:
Chr8:103218494
GRCh38:
Chr8:102206266
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
24.
GRCh37:
Chr8:103217370
GRCh38:
Chr8:102205142
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
25.
GRCh37:
Chr8:103217366
GRCh38:
Chr8:102205138
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
26.
GRCh37:
Chr8:103216784
GRCh38:
Chr8:102204556
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
27.
GRCh37:
Chr8:103251203
GRCh38:
Chr8:102238975
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
28.
GRCh37:
Chr8:103251103
GRCh38:
Chr8:102238875
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr8:103244419
GRCh38:
Chr8:102232191
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr8:103220171
GRCh38:
Chr8:102207943
RRM2Bnot provided, Mitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Benign/Likely benign
(Nov 20, 2018)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr8:103219925
GRCh38:
Chr8:102207697
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
32.
GRCh37:
Chr8:103219876
GRCh38:
Chr8:102207648
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr8:103219024
GRCh38:
Chr8:102206796
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr8:103218910
GRCh38:
Chr8:102206682
RRM2BProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8aUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr8:103218851
GRCh38:
Chr8:102206623
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr8:103217243
GRCh38:
Chr8:102205015
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr8:103217111
GRCh38:
Chr8:102204883
RRM2BProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8aUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
38.
GRCh37:
Chr8:103244453
GRCh38:
Chr8:102232225
RRM2BV115D, V43DMitochondrial DNA depletion syndrome 8aLikely pathogenic
(May 10, 2019)		criteria provided, single submitter
39.
GRCh37:
Chr8:103236296-103236297
GRCh38:
Chr8:102224068-102224069
RRM2BI124fs, I248fs, I176fsMitochondrial DNA depletion syndrome 8aPathogenic
(May 10, 2019)		criteria provided, single submitter
40.
GRCh37:
Chr8:103236354
GRCh38:
Chr8:102224126
RRM2BN229S, N105S, N157SMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction,
not provided		Uncertain significance
(Nov 10, 2021)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr8:103231193
GRCh38:
Chr8:102218965
RRM2Bnot provided, Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, Mitochondrial DNA depletion syndrome 8a,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		Benign/Likely benign
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr8:103226406
GRCh38:
Chr8:102214178
RRM2Bnot specified, not provided, Mitochondrial DNA depletion syndrome 8a,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr8:103251102
GRCh38:
Chr8:102238874
RRM2BM1VMitochondrial DNA depletion syndrome 8a, not providedLikely pathogenic
(Sep 8, 2016)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr8:103250782
GRCh38:
Chr8:102238554
RRM2Bnot provided, Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5,
Mitochondrial DNA depletion syndrome 8a		Benign/Likely benign
(Nov 11, 2021)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr8:103251259
GRCh38:
Chr8:102239031
RRM2BProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8aBenign
(Jan 12, 2018)		criteria provided, single submitter
46.
GRCh37:
Chr8:103251255
GRCh38:
Chr8:102239027
RRM2BProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8a, not provided
Benign/Likely benign
(Jun 16, 2018)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr8:103251205
GRCh38:
Chr8:102238977
RRM2BProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8a, not provided
Benign
(Jun 25, 2018)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr8:103251190
GRCh38:
Chr8:102238962
RRM2BProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8a, not provided
Benign
(Jun 23, 2018)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr8:103236321
GRCh38:
Chr8:102224093
RRM2BK168R, K240R, K116RMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, not provided
Uncertain significance
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr8:103236284
GRCh38:
Chr8:102224056
RRM2BProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8a, not provided
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
51.
GRCh37:
Chr8:103226315
GRCh38:
Chr8:102214087
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
52.
GRCh37:
Chr8:103225126
GRCh38:
Chr8:102212898
RRM2Bnot provided, Mitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Conflicting interpretations of pathogenicity
(Jul 28, 2022)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr8:103220504
GRCh38:
Chr8:102208276
RRM2BA377S, A305S, A253SMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr8:103220350
GRCh38:
Chr8:102208122
RRM2Bnot specified, Mitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
55.
GRCh37:
Chr8:103220288
GRCh38:
Chr8:102208060
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
56.
GRCh37:
Chr8:103220287
GRCh38:
Chr8:102208059
RRM2BProgressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndrome, Mitochondrial DNA depletion syndrome 8a,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction		Uncertain significance
(Feb 13, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr8:103220114
GRCh38:
Chr8:102207886
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
58.
GRCh37:
Chr8:103220033
GRCh38:
Chr8:102207805
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr8:103219809
GRCh38:
Chr8:102207581
RRM2BProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8aUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
60.
GRCh37:
Chr8:103219629
GRCh38:
Chr8:102207401
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, not provided
Benign
(May 17, 2021)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr8:103219573
GRCh38:
Chr8:102207345
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
62.
GRCh37:
Chr8:103219544
GRCh38:
Chr8:102207316
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr8:103219506
GRCh38:
Chr8:102207278
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
64.
GRCh37:
Chr8:103219495
GRCh38:
Chr8:102207267
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, not provided
Benign
(May 17, 2021)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr8:103219492
GRCh38:
Chr8:102207264
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
66.
GRCh37:
Chr8:103219363
GRCh38:
Chr8:102207135
RRM2Bnot provided, Mitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Benign
(May 17, 2021)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr8:103219240
GRCh38:
Chr8:102207012
RRM2BProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8aBenign
(Jan 13, 2018)		criteria provided, single submitter
68.
GRCh37:
Chr8:103219084
GRCh38:
Chr8:102206856
RRM2BProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8aBenign
(Jan 13, 2018)		criteria provided, single submitter
69.
GRCh37:
Chr8:103219010
GRCh38:
Chr8:102206782
RRM2BProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8aBenign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
70.
GRCh37:
Chr8:103218873
GRCh38:
Chr8:102206645
RRM2BProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Mitochondrial DNA depletion syndrome 8aBenign
(Jan 13, 2018)		criteria provided, single submitter
71.
GRCh37:
Chr8:103218765
GRCh38:
Chr8:102206537
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
72.
GRCh37:
Chr8:103218760
GRCh38:
Chr8:102206532
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Benign
(Jan 13, 2018)		criteria provided, single submitter
73.
GRCh37:
Chr8:103218688
GRCh38:
Chr8:102206460
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Benign
(Jan 13, 2018)		criteria provided, single submitter
74.
GRCh37:
Chr8:103218644
GRCh38:
Chr8:102206416
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr8:103218408
GRCh38:
Chr8:102206180
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Benign
(Jan 12, 2018)		criteria provided, single submitter
76.
GRCh37:
Chr8:103218326
GRCh38:
Chr8:102206098
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Benign
(Jan 13, 2018)		criteria provided, single submitter
77.
GRCh37:
Chr8:103218264
GRCh38:
Chr8:102206036
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Benign
(Jan 12, 2018)		criteria provided, single submitter
78.
GRCh37:
Chr8:103218225
GRCh38:
Chr8:102205997
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Benign
(Jan 13, 2018)		criteria provided, single submitter
79.
GRCh37:
Chr8:103218125
GRCh38:
Chr8:102205897
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
80.
GRCh37:
Chr8:103217951
GRCh38:
Chr8:102205723
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
81.
GRCh37:
Chr8:103217848
GRCh38:
Chr8:102205620
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
82.
GRCh37:
Chr8:103217695
GRCh38:
Chr8:102205467
RRM2Bnot provided, Mitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Benign
(May 17, 2021)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr8:103217686
GRCh38:
Chr8:102205458
RRM2BMitochondrial DNA depletion syndrome 8a, not provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Benign
(May 17, 2021)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr8:103217639
GRCh38:
Chr8:102205411
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
85.
GRCh37:
Chr8:103217552
GRCh38:
Chr8:102205324
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
86.
GRCh37:
Chr8:103217539
GRCh38:
Chr8:102205311
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
87.
GRCh37:
Chr8:103217482
GRCh38:
Chr8:102205254
RRM2BMitochondrial DNA depletion syndrome 8a, not provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Benign
(May 18, 2021)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr8:103217401
GRCh38:
Chr8:102205173
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
89.
GRCh37:
Chr8:103217383
GRCh38:
Chr8:102205155
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
90.
GRCh37:
Chr8:103217283
GRCh38:
Chr8:102205055
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
91.
GRCh37:
Chr8:103217236
GRCh38:
Chr8:102205008
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
92.
GRCh37:
Chr8:103217095
GRCh38:
Chr8:102204867
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
93.
GRCh37:
Chr8:103217072
GRCh38:
Chr8:102204844
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
94.
GRCh37:
Chr8:103216966
GRCh38:
Chr8:102204738
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Benign
(Jan 13, 2018)		criteria provided, single submitter
95.
GRCh37:
Chr8:103216898
GRCh38:
Chr8:102204670
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Benign
(Jan 13, 2018)		criteria provided, single submitter
96.
GRCh37:
Chr8:103216872
GRCh38:
Chr8:102204644
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
97.
GRCh37:
Chr8:103216834
GRCh38:
Chr8:102204606
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Benign
(Jan 13, 2018)		criteria provided, single submitter
98.
GRCh37:
Chr8:103216768
GRCh38:
Chr8:102204540
RRM2BMitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5Benign
(Jan 13, 2018)		criteria provided, single submitter
99.
GRCh37:
Chr8:103231090-103231091
GRCh38:
Chr8:102218862-102218863
RRM2BMitochondrial DNA depletion syndrome 8aLikely pathogenic
(Apr 1, 2014)		criteria provided, single submitter
100.
GRCh37:
Chr8:103250867
GRCh38:
Chr8:102238639
RRM2BE62fsnot specified, Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a,
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		Uncertain significance
(May 31, 2023)		criteria provided, multiple submitters, no conflicts
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