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Items: 1 to 100 of 209

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr15:89870428
GRCh38:
Chr15:89327197
POLG, POLGARFN468ISensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1		Uncertain significance
(Nov 3, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr15:89873415
Chr15:89868870
GRCh38:
Chr15:89330184
Chr15:89325639
POLG, POLGARF, POLG, POLGARFT251I, P587LPOLG-Related Spectrum DisordersPathogenic
(Jun 7, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr15:89872157
GRCh38:
Chr15:89328926
POLG, POLGARFProgressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 1,
Progressive sclerosing poliodystrophy		Likely benign
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr10:102749157
GRCh38:
Chr10:100989400
TWNKD397GPerrault syndrome 5, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Infantile onset spinocerebellar ataxia, not provided		Uncertain significance
(Jan 20, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr15:89870393
GRCh38:
Chr15:89327162
POLG, POLGARFProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive sclerosing poliodystrophy		Uncertain significance
(Jul 22, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr15:89860718
GRCh38:
Chr15:89317487
POLG, POLGARFA1178TProgressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b,
Progressive sclerosing poliodystrophy		Uncertain significance
(Aug 3, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr15:89865080
GRCh38:
Chr15:89321849
POLG, POLGARFP829SProgressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b,
Progressive sclerosing poliodystrophy		Uncertain significance
(Oct 25, 2021)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr15:89867109
GRCh38:
Chr15:89323878
POLG, POLGARFE698DMitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive sclerosing poliodystrophy		Uncertain significance
(Dec 5, 2021)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr15:89862145
GRCh38:
Chr15:89318914
POLGARF, POLGMitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive sclerosing poliodystrophy		Conflicting interpretations of pathogenicity
(Sep 13, 2022)		criteria provided, conflicting interpretations
10.
GRCh37:
Chr15:89868723
GRCh38:
Chr15:89325492
POLG, POLGARFT636RMitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1,
Progressive sclerosing poliodystrophy		Uncertain significance
(Aug 10, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr15:89872202
GRCh38:
Chr15:89328971
POLG, POLGARFS332FProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Progressive sclerosing poliodystrophy,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 4b		Uncertain significance
(Oct 8, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr15:89864316-89864317
GRCh38:
Chr15:89321085-89321086
POLG, POLGARFSensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy		Benign
(Oct 25, 2021)		criteria provided, single submitter
13.
GRCh37:
Chr15:89862208
GRCh38:
Chr15:89318977
POLG, POLGARFG1076DProgressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b,
not provided, Progressive sclerosing poliodystrophy		Uncertain significance
(Aug 7, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr15:89872344
GRCh38:
Chr15:89329113
POLG, POLGARFProgressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b, Mitochondrial DNA depletion syndrome 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Uncertain significance
(Feb 3, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr15:89876786
GRCh38:
Chr15:89333555
POLG, POLGARFG67AProgressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b, Mitochondrial DNA depletion syndrome 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Uncertain significance
(Jan 24, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr15:89866643
GRCh38:
Chr15:89323412
POLG, POLGARFP753SProgressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive sclerosing poliodystrophy		Uncertain significance
(Sep 29, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr15:89868694
GRCh38:
Chr15:89325463
POLG, POLGARFV646FProgressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1		Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr15:89866645
GRCh38:
Chr15:89323414
POLG, POLGARFL752PProgressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b,
Progressive sclerosing poliodystrophy, POLG-Related Spectrum Disorders		Uncertain significance
(Mar 22, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr15:89868819
GRCh38:
Chr15:89325588
POLG, POLGARFA604VSensory ataxic neuropathy, dysarthria, and ophthalmoparesisUncertain significance
(Jan 1, 2019)		criteria provided, single submitter
20.
GRCh37:
Chr15:89876584
GRCh38:
Chr15:89333353
POLG, POLGARFN134Knot provided, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy		Uncertain significance
(Aug 21, 2023)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr15:89862284
GRCh38:
Chr15:89319053
POLG, POLGARFG1051WProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b, Mitochondrial DNA depletion syndrome 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
not provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy,
POLG-Related Spectrum Disorders		Conflicting interpretations of pathogenicity
(Feb 17, 2023)		criteria provided, conflicting interpretations
22.
GRCh37:
Chr10:102753720
GRCh38:
Chr10:100993963
TWNKProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
23.
GRCh37:
Chr10:102748880
GRCh38:
Chr10:100989123
TWNKV305ISensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia,
Autosomal recessive cerebellar ataxia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
24.
GRCh37:
Chr10:102747384
GRCh38:
Chr10:100987627
TWNKSensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia,
Autosomal recessive cerebellar ataxia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
25.
GRCh37:
Chr10:102753828
GRCh38:
Chr10:100994071
TWNKProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
26.
GRCh37:
Chr10:102750630
GRCh38:
Chr10:100990873
TWNKA79T, A533Tnot provided, Infantile onset spinocerebellar ataxia, Perrault syndrome 5,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Conflicting interpretations of pathogenicity
(Jun 9, 2022)		criteria provided, conflicting interpretations
27.
GRCh37:
Chr10:102748639
GRCh38:
Chr10:100988882
TWNKnot provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia,
Autosomal recessive cerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Conflicting interpretations of pathogenicity
(May 5, 2022)		criteria provided, conflicting interpretations
28.
GRCh37:
Chr10:102754036
GRCh38:
Chr10:100994279
TWNKSensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr10:102753819
GRCh38:
Chr10:100994062
TWNKSensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr10:102753613
GRCh38:
Chr10:100993856
TWNKSensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
31.
GRCh37:
Chr10:102753608
GRCh38:
Chr10:100993851
TWNKSensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
32.
GRCh37:
Chr10:102753165
GRCh38:
Chr10:100993408
TWNKnot provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
33.
GRCh37:
Chr10:102753118
GRCh38:
Chr10:100993361
TWNKA182T, A636Tnot provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia		Uncertain significance
(Aug 25, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr10:102748563
GRCh38:
Chr10:100988806
TWNKR199Qnot provided, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Autosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia		Uncertain significance
(Aug 20, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr10:102747376
GRCh38:
Chr10:100987619
TWNKSensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Perrault syndrome 5,
Autosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia		Uncertain significance
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr10:102753515
GRCh38:
Chr10:100993758
TWNKProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr10:102753038
GRCh38:
Chr10:100993281
TWNKR155L, R609LProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Autosomal recessive cerebellar ataxia		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
38.
GRCh37:
Chr10:102750280
GRCh38:
Chr10:100990523
TWNKProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Autosomal recessive cerebellar ataxia		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
39.
GRCh37:
Chr10:102747664
GRCh38:
Chr10:100987907
TWNKProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
40.
GRCh37:
Chr10:102747550
GRCh38:
Chr10:100987793
TWNKProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
41.
GRCh37:
Chr10:102747346
GRCh38:
Chr10:100987589
TWNKProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr15:89873437
GRCh38:
Chr15:89330206
POLG, POLGARFL244VProgressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
43.
GRCh37:
Chr15:89870469
GRCh38:
Chr15:89327238
POLG, POLGARFE454DSensory ataxic neuropathy, dysarthria, and ophthalmoparesisLikely pathogenic
(Apr 3, 2019)		criteria provided, single submitter
44.
GRCh37:
Chr15:89865050
GRCh38:
Chr15:89321819
POLG, POLGARFA839fsSensory ataxic neuropathy, dysarthria, and ophthalmoparesisPathogenic
(Nov 8, 2018)		criteria provided, single submitter
45.
GRCh37:
Chr15:89860673-89860676
GRCh38:
Chr15:89317442-89317445
POLG, POLGARFSensory ataxic neuropathy, dysarthria, and ophthalmoparesisPathogenic
(Apr 3, 2019)		criteria provided, single submitter
46.
GRCh37:
Chr15:89876655
GRCh38:
Chr15:89333424
POLG, POLGARFG111RProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b, Mitochondrial DNA depletion syndrome 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1not provided,
Progressive sclerosing poliodystrophy, ...see more		Uncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr15:89861988
GRCh38:
Chr15:89318757
POLG, POLGARFProgressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1		Likely benign
(Sep 17, 2021)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr15:89860620
GRCh38:
Chr15:89317389
POLG, POLGARFY1210*Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisPathogenic
(Jul 17, 2019)		criteria provided, single submitter
49.
GRCh37:
Chr15:89864186
GRCh38:
Chr15:89320955
POLG, POLGARFL931RSensory ataxic neuropathy, dysarthria, and ophthalmoparesisLikely pathogenic
(Jul 17, 2019)		criteria provided, single submitter
50.
GRCh37:
Chr15:89862224
GRCh38:
Chr15:89318993
POLG, POLGARFR1071CProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1,
Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Uncertain significance
(Jul 19, 2021)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr15:89872328
GRCh38:
Chr15:89329097
POLG, POLGARFR290Hnot provided, Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy		Uncertain significance
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr15:89862179-89862180
GRCh38:
Chr15:89318948-89318949
POLGARF, POLGS1086fsProgressive sclerosing poliodystrophyPathogenic
(Dec 19, 2018)		criteria provided, single submitter
53.
GRCh37:
Chr10:102749037
GRCh38:
Chr10:100989280
TWNKR357Pnot provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia		Conflicting interpretations of pathogenicity
(Feb 1, 2023)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr15:89865207
GRCh38:
Chr15:89321976
POLG, POLGARFMitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy		Uncertain significance
(Mar 30, 2021)		criteria provided, single submitter
55.
GRCh37:
Chr15:89862366
GRCh38:
Chr15:89319135
POLG, POLGARFProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, not provided, Mitochondrial DNA depletion syndrome 4b,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Benign
(Oct 25, 2021)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr15:89873343
GRCh38:
Chr15:89330112
POLG, POLGARFR275QMitochondrial DNA depletion syndrome 4b, Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy,
Progressive sclerosing poliodystrophy		Uncertain significance
(Mar 17, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr15:89867124-89867126
GRCh38:
Chr15:89323893-89323895
POLG, POLGARFE693delMitochondrial DNA depletion syndrome 4b, Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy,
Progressive sclerosing poliodystrophy		Uncertain significance
(May 17, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr15:89867060
GRCh38:
Chr15:89323829
POLG, POLGARFQ715*Mitochondrial DNA depletion syndrome 4b, Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy,
Progressive sclerosing poliodystrophy		Pathogenic
(Jan 3, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr15:89867154
GRCh38:
Chr15:89323923
POLG, POLGARFProgressive sclerosing poliodystrophy, not provided, Mitochondrial DNA depletion syndrome 4b,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Benign
(Oct 25, 2021)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr15:89862458
GRCh38:
Chr15:89319227
POLG, POLGARFMitochondrial DNA depletion syndrome 4b, Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy,
Progressive sclerosing poliodystrophy, not provided		Pathogenic/Likely pathogenic
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr15:89860605
GRCh38:
Chr15:89317374
POLGARF, POLGMitochondrial diseasePathogenic
(May 6, 2021)		reviewed by expert panel
FDA Recognized Database
62.
GRCh37:
Chr15:89860690
GRCh38:
Chr15:89317459
POLG, POLGARFR1187Qnot provided, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive sclerosing poliodystrophy		Uncertain significance
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr15:89864386
GRCh38:
Chr15:89321155
POLG, POLGARFL902VMitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
not provided, Progressive sclerosing poliodystrophy, Inborn genetic diseases
Uncertain significance
(Jan 6, 2023)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr15:89873428
GRCh38:
Chr15:89330197
POLG, POLGARFL247VMitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
not provided, Progressive sclerosing poliodystrophy, Inborn genetic diseases
Uncertain significance
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr15:89876555
GRCh38:
Chr15:89333324
POLGARF, POLGQ144RInborn genetic diseases, not provided, Progressive sclerosing poliodystrophy,
Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Uncertain significance
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr15:89876726
GRCh38:
Chr15:89333495
POLG, POLGARFI87TInborn genetic diseases, Progressive sclerosing poliodystrophyUncertain significance
(Jan 14, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr15:89867339
GRCh38:
Chr15:89324108
POLG, POLGARFT690MInborn genetic diseases, Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy,
Mitochondrial DNA depletion syndrome 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, not provided
Uncertain significance
(Aug 18, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr15:89869886
GRCh38:
Chr15:89326655
POLGARF, POLGE557QProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b,
not provided, Progressive sclerosing poliodystrophy		Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr15:89861937
GRCh38:
Chr15:89318706
POLG, POLGARFV1106AInborn genetic diseases, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 4b		Conflicting interpretations of pathogenicity
(Oct 31, 2018)		criteria provided, conflicting interpretations
70.
GRCh37:
Chr10:102749387
GRCh38:
Chr10:100989630
TWNKAutosomal recessive cerebellar ataxia, not specified, Infantile onset spinocerebellar ataxia,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Conflicting interpretations of pathogenicity
(Mar 23, 2018)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr15:89870411
GRCh38:
Chr15:89327180
POLG, POLGARFL474IMitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b,
Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
not provided		Uncertain significance
(May 10, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr15:89860035
GRCh38:
Chr15:89316804
FANCI, POLG, POLGARFI1223VProgressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Hereditary spastic paraplegia, Progressive sclerosing poliodystrophy, not provided
Conflicting interpretations of pathogenicity
(Oct 14, 2022)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr15:89861812
GRCh38:
Chr15:89318581
POLG, POLGARFR1148CInborn genetic diseases, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Mitochondrial DNA depletion syndrome 4b, not provided, Progressive sclerosing poliodystrophy
Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr15:89868748
GRCh38:
Chr15:89325517
POLG, POLGARFR628WProgressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Progressive sclerosing poliodystrophy		Uncertain significance
(Oct 21, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr15:89870555
GRCh38:
Chr15:89327324
POLG, POLGARFG426SProgressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Progressive sclerosing poliodystrophy, not provided		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
76.
GRCh37:
Chr15:89873438
GRCh38:
Chr15:89330207
POLG, POLGARFD243EProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 1,
Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b,
POLG-Related Spectrum Disorders, not provided, Progressive sclerosing poliodystrophy
Uncertain significance
(Feb 12, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr15:89867381
GRCh38:
Chr15:89324150
POLG, POLGARFA676Vnot provided, Inborn genetic diseases, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 1, Progressive sclerosing poliodystrophy,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy
Conflicting interpretations of pathogenicity
(Nov 14, 2022)		criteria provided, conflicting interpretations
78.
GRCh37:
Chr15:89865035
GRCh38:
Chr15:89321804
POLG, POLGARFV844Mnot provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Mitochondrial DNA depletion syndrome 1, Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 4b		Uncertain significance
(Dec 1, 2021)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr15:89865205
GRCh38:
Chr15:89321974
POLG, POLGARFR823HProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 1,
Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b,
not provided, Progressive sclerosing poliodystrophy, not specified
Uncertain significance
(Mar 26, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr15:89876357
GRCh38:
Chr15:89333126
POLG, POLGARFT210IProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Progressive sclerosing poliodystrophy, not provided		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr15:89869942
GRCh38:
Chr15:89326711
POLG, POLGARFE538AInborn genetic diseases, Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy, not provided
Uncertain significance
(Jun 8, 2023)		criteria provided, multiple submitters, no conflicts
82.
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisLikely pathogenic
(Aug 8, 2016)		criteria provided, single submitter
83.
GRCh37:
Chr10:102748023
GRCh38:
Chr10:100988266
TWNKG19EAutosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia, not provided,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
84.
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisLikely pathogenic
(Mar 18, 2014)		criteria provided, single submitter
85.
GRCh37:
Chr15:89862457
GRCh38:
Chr15:89319226
POLGARF, POLGMitochondrial DNA depletion syndrome 1, Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Mitochondrial DNA depletion syndrome 4b,
not provided		Likely pathogenic
(Oct 4, 2021)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr15:89876956
GRCh38:
Chr15:89333725
POLGARF, POLGProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive sclerosing poliodystrophy		Likely benign
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr15:89864001
GRCh38:
Chr15:89320770
POLG, POLGARFR993CInborn genetic diseases, not provided, Progressive sclerosing poliodystrophy,
Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 1,
Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr15:89862231
GRCh38:
Chr15:89319000
POLG, POLGARFD1068EProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive sclerosing poliodystrophy, not specified, Inborn genetic diseases,
not provided		Uncertain significance
(Jul 24, 2023)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr10:102750642
GRCh38:
Chr10:100990885
TWNKY537H, Y83Hnot provided, Infantile onset spinocerebellar ataxia, Hereditary spastic paraplegia,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Autosomal recessive cerebellar ataxia
Conflicting interpretations of pathogenicity
(Oct 26, 2022)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr15:89868841
GRCh38:
Chr15:89325610
POLG, POLGARFR597Wnot provided, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive sclerosing poliodystrophy
Pathogenic
(Apr 18, 2023)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr10:102754033
GRCh38:
Chr10:100994276
TWNKInfantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Benign
(Jan 12, 2018)		criteria provided, single submitter
92.
GRCh37:
Chr10:102754030
GRCh38:
Chr10:100994273
TWNKAutosomal recessive cerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Infantile onset spinocerebellar ataxia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
93.
GRCh37:
Chr10:102754014
GRCh38:
Chr10:100994257
TWNKAutosomal recessive cerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Infantile onset spinocerebellar ataxia		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
94.
GRCh37:
Chr10:102753976
GRCh38:
Chr10:100994219
TWNKAutosomal recessive cerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Infantile onset spinocerebellar ataxia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
95.
GRCh37:
Chr10:102753886
GRCh38:
Chr10:100994129
TWNKSensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
96.
GRCh37:
Chr10:102753841
GRCh38:
Chr10:100994084
TWNKProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
97.
GRCh37:
Chr10:102753822
GRCh38:
Chr10:100994065
TWNKAutosomal recessive cerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
98.
GRCh37:
Chr10:102753788
GRCh38:
Chr10:100994031
TWNKAutosomal recessive cerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, not provided,
Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Benign
(May 10, 2021)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr10:102753722
GRCh38:
Chr10:100993965
TWNKProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal recessive cerebellar ataxia, not provided,
Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Benign/Likely benign
(Oct 18, 2021)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr10:102753705
GRCh38:
Chr10:100993948
TWNKProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
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