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Items: 1 to 100 of 127

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:
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
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
17.
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
18.
GRCh37:
Chr15:89876898-89876919
GRCh38:
Chr15:89333667-89333688
POLGARF, POLGG23fsProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophyPathogenic/Likely pathogenic
(Jul 25, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr15:89876584
GRCh38:
Chr15:89333353
POLG, POLGARFN134KProgressive 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, Mitochondrial DNA depletion syndrome 1,
Progressive sclerosing poliodystrophy		Uncertain significance
(Oct 7, 2022)		criteria provided, multiple submitters, no conflicts
20.
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
21.
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
22.
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
23.
GRCh37:
Chr15:89861988
GRCh38:
Chr15:89318757
POLG, POLGARFProgressive sclerosing poliodystrophy, 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, Mitochondrial DNA depletion syndrome 4b,
Progressive sclerosing poliodystrophy		Likely benign
(Sep 17, 2021)		criteria provided, multiple submitters, no conflicts
24.
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
25.
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
26.
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
27.
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
28.
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
29.
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
30.
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
31.
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
32.
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
33.
GRCh37:
Chr15:89860605
GRCh38:
Chr15:89317374
POLGARF, POLGMitochondrial diseasePathogenic
(May 6, 2021)		reviewed by expert panel
FDA Recognized Database
34.
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
35.
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
36.
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
37.
GRCh37:
Chr15:89876555
GRCh38:
Chr15:89333324
POLGARF, POLGQ144Rnot provided, Mitochondrial DNA depletion syndrome 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Inborn genetic diseases, Progressive sclerosing poliodystrophy
Uncertain significance
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr15:89876726
GRCh38:
Chr15:89333495
POLG, POLGARFI87TProgressive sclerosing poliodystrophy, Inborn genetic diseasesUncertain significance
(Jan 14, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr15:89867339
GRCh38:
Chr15:89324108
POLG, POLGARFT690MProgressive 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, Mitochondrial DNA depletion syndrome 1,
Progressive sclerosing poliodystrophy, Inborn genetic diseases, not provided
Uncertain significance
(Aug 18, 2022)		criteria provided, multiple submitters, no conflicts
40.
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
41.
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
42.
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
43.
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
44.
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
45.
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
46.
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
47.
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
48.
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
49.
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
50.
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
51.
GRCh37:
Chr15:89862526
GRCh38:
Chr15:89319295
POLG, POLGARFD1013Ynot provided, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Uncertain significance
(Aug 13, 2021)		criteria provided, multiple submitters, no conflicts
52.
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
53.
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
54.
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisLikely pathogenic
(Mar 18, 2014)		criteria provided, single submitter
55.
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
56.
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
57.
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
58.
GRCh37:
Chr15:89862231
GRCh38:
Chr15:89319000
POLG, POLGARFD1068EInborn 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, Progressive sclerosing poliodystrophy, not provided,
not specified		Uncertain significance
(Jul 24, 2023)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr15:89871989
GRCh38:
Chr15:89328758
POLG, POLGARFG366AMitochondrial 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, Progressive sclerosing poliodystrophy,
Progressive sclerosing poliodystrophy, not provided		Uncertain significance
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr15:89872272
GRCh38:
Chr15:89329041
POLG, POLGARFR309CProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, 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 1,
not provided, Progressive sclerosing poliodystrophy		Pathogenic
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr15:89870397
GRCh38:
Chr15:89327166
POLG, POLGARFnot provided, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, 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,
Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy		Pathogenic
(Aug 20, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr15:89865980
GRCh38:
Chr15:89322749
POLG, POLGARFR807Cnot provided, neonatal seizures, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Conflicting interpretations of pathogenicity
(Mar 1, 2023)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr15:89864238
GRCh38:
Chr15:89321007
POLG, POLGARFT914PProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b, not provided,
POLG-Related Spectrum Disorders, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, 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,
Mitochondrial DNA depletion syndrome 4b, Tip-toe gaitProgressive sclerosing poliodystrophy,
...see more		Pathogenic/Likely pathogenic
(Oct 26, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr15:89862488
GRCh38:
Chr15:89319257
POLG, POLGARFProgressive 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, Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy,
not provided		Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr15:89865055
GRCh38:
Chr15:89321824
POLG, POLGARFY837CProgressive 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 specified		Uncertain significance
(Sep 14, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr15:89870158
GRCh38:
Chr15:89326927
POLG, POLGARFP524AProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, 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 1,
not provided, Progressive sclerosing poliodystrophy		Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr15:89870428
GRCh38:
Chr15:89327197
POLG, POLGARFN468SProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, 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 1,
not provided, Inborn genetic diseases, Progressive sclerosing poliodystrophy
Uncertain significance
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr15:89876640
GRCh38:
Chr15:89333409
POLG, POLGARFP116SProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, 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 1,
not provided, Progressive sclerosing poliodystrophy		Uncertain significance
(May 12, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr15:89876658
GRCh38:
Chr15:89333427
POLG, POLGARFH110YProgressive sclerosing poliodystrophy, not specified, Inborn genetic diseases,
Progressive 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, not provided
Conflicting interpretations of pathogenicity
(Oct 12, 2022)		criteria provided, conflicting interpretations
70.
GRCh37:
Chr15:89862486
GRCh38:
Chr15:89319255
POLG, POLGARFR1026HProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, 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 1,
not provided, Progressive sclerosing poliodystrophy		Uncertain significance
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr15:89868687
GRCh38:
Chr15:89325456
POLG, POLGARFP648Rnot provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy
Pathogenic/Likely pathogenic
(Apr 25, 2023)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr15:89868822
GRCh38:
Chr15:89325591
POLGARF, POLGM603Tnot specified, Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, not provided,
Progressive sclerosing poliodystrophy, Hereditary spastic paraplegia		Conflicting interpretations of pathogenicity
(Apr 27, 2023)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr15:89870429
GRCh38:
Chr15:89327198
POLG, POLGARFN468Dnot provided, Hereditary spastic paraplegia, Progressive sclerosing poliodystrophy,
POLG-Related Spectrum Disorders, Inborn genetic diseases, Progressive sclerosing poliodystrophy,
Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4bProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, 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, 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, not specified,
Intellectual disability, Seizure, ...see more		Conflicting interpretations of pathogenicity
(Aug 25, 2023)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr15:89870503
GRCh38:
Chr15:89327272
POLG, POLGARFR443HProgressive 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,
not provided		Uncertain significance
(Jan 30, 2020)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr15:89872282
GRCh38:
Chr15:89329051
POLG, POLGARFS305RInborn genetic diseases, not provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive sclerosing poliodystrophy		Pathogenic/Likely pathogenic
(Jul 7, 2023)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr15:89872335
GRCh38:
Chr15:89329104
POLG, POLGARFR288CProgressive 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, not provided,
Progressive sclerosing poliodystrophy		Conflicting interpretations of pathogenicity
(Jul 20, 2022)		criteria provided, conflicting interpretations
77.
GRCh37:
Chr15:89873448
GRCh38:
Chr15:89330217
POLG, POLGARFS240LProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, 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 1,
Progressive sclerosing poliodystrophy, not provided		Uncertain significance
(Jul 1, 2023)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr15:89860052
GRCh38:
Chr15:89316821
FANCI, POLG, POLGARFA1217VPOLG-Related Spectrum Disorders, 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 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 4b, not specified, not provided,
Progressive sclerosing poliodystrophy, Fanconi anemia complementation group I ...see more		Uncertain significance
(Aug 15, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr15:89860745
GRCh38:
Chr15:89317514
POLG, POLGARFG1169SProgressive 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 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b,
not provided, Progressive sclerosing poliodystrophy		Uncertain significance
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr15:89861968
GRCh38:
Chr15:89318737
POLG, POLGARFR1096CMitochondrial diseaseLikely pathogenic
(May 23, 2021)		reviewed by expert panel
FDA Recognized Database
81.
GRCh37:
Chr15:89862220
GRCh38:
Chr15:89318989
POLG, POLGARFT1072SProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, 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 1,
Inborn genetic diseases, Progressive sclerosing poliodystrophy, not provided
Uncertain significance
(Oct 9, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr15:89876900
GRCh38:
Chr15:89333669
POLG, POLGARFS29CProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, 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 1,
not provided, Progressive sclerosing poliodystrophy		Uncertain significance
(Mar 10, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr15:89862296
GRCh38:
Chr15:89319065
POLG, POLGARFR1047WInborn genetic diseases, not provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy		Conflicting interpretations of pathogenicity
(Jun 2, 2023)		criteria provided, conflicting interpretations
84.
GRCh37:
Chr15:89862487
GRCh38:
Chr15:89319256
POLG, POLGARFR1026CProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, 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 1,
POLG-Related Spectrum Disorders, POLG-related disorders, not provided
Uncertain significance
(Apr 27, 2019)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr15:89865011
GRCh38:
Chr15:89321780
POLG, POLGARFR852CInborn 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, Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 1, not provided, Hereditary spastic paraplegia,
Progressive sclerosing poliodystrophy		Pathogenic
(Aug 1, 2023)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr15:89866693
GRCh38:
Chr15:89323462
POLG, POLGARFN736SPOLG-Related Spectrum Disorders, 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, Inborn genetic diseases, not specified,
Progressive sclerosing poliodystrophy, not provided ...see more		Conflicting interpretations of pathogenicity
(Oct 30, 2022)		criteria provided, conflicting interpretations
87.
GRCh37:
Chr15:89867118
GRCh38:
Chr15:89323887
POLG, POLGARFD695EMitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, 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,
not provided, Hereditary spastic paraplegia, Progressive sclerosing poliodystrophy
Uncertain significance
(Aug 24, 2023)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr15:89867349
GRCh38:
Chr15:89324118
POLG, POLGARFI687VProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, 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 1,
not provided		Uncertain significance
(Oct 31, 2018)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr15:89876827-89876828
GRCh38:
Chr15:89333596-89333597
POLG, POLGARFInborn 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, not specified, Progressive sclerosing poliodystrophy,
not provided		Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr15:89876828-89876836
GRCh38:
Chr15:89333597-89333605
POLGARF, POLGnot specified, Hereditary spastic paraplegia, 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,
Mitochondrial DNA depletion syndrome 4b, Inborn genetic diseasesnot provided,
...see more		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr15:89876828-89876845
GRCh38:
Chr15:89333597-89333614
POLG, POLGARFProgressive 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,
Inborn genetic diseases, not specified, Progressive sclerosing poliodystrophy
Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr15:89861931
GRCh38:
Chr15:89318700
POLG, POLGARFY1108FProgressive sclerosing poliodystrophy, Inborn genetic diseases, 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 1, not provided		Uncertain significance
(Oct 30, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr15:89862465
GRCh38:
Chr15:89319234
POLG, POLGARFA1033VPOLG-Related Spectrum Disorders, 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, not provided, Progressive sclerosing poliodystrophy,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1		Conflicting interpretations of pathogenicity
(Nov 3, 2022)		criteria provided, conflicting interpretations
94.
GRCh37:
Chr15:89867387
GRCh38:
Chr15:89324156
POLGARF, POLGG674DProgressive sclerosing poliodystrophy, POLG-Related Spectrum Disorders, not provided,
Progressive 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, Inborn genetic diseases,
not specified		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr15:89869974
GRCh38:
Chr15:89326743
MIR6766, POLG, POLGARFInborn genetic diseases, 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, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 4b, not specified, not provided,
Hereditary spastic paraplegia, Progressive sclerosing poliodystrophy ...see more		Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr15:89871763
GRCh38:
Chr15:89328532
POLG, POLGARFL392VPOLG-Related Spectrum Disorders, Inborn genetic diseases, not specified,
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, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b,
not provided, Hereditary spastic paraplegiaProgressive sclerosing poliodystrophy,
...see more		Conflicting interpretations of pathogenicity
(Jul 1, 2023)		criteria provided, conflicting interpretations
97.
GRCh37:
Chr15:89873364
GRCh38:
Chr15:89330133
POLG, POLGARFG268APOLG-Related Spectrum Disorders, Inborn 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 4b, Charcot-Marie-Tooth disease axonal type 2U, not specified,
not provided, Hereditary spastic paraplegiaProgressive sclerosing poliodystrophy,
...see more		Conflicting interpretations of pathogenicity
(Jun 1, 2023)		criteria provided, conflicting interpretations
98.
GRCh37:
Chr15:89861829
GRCh38:
Chr15:89318598
POLG, POLGARFR1142QProgressive 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,
not provided, Progressive sclerosing poliodystrophy		Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr15:89862259
GRCh38:
Chr15:89319028
POLG, POLGARFN1059SPOLG-Related Spectrum Disorders, 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, not specified, not provided,
Progressive sclerosing poliodystrophy		Uncertain significance
(Dec 17, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr15:89876954
GRCh38:
Chr15:89333723
POLG, POLGARFG11DPOLG-Related Spectrum Disorders, Inborn 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 4b, Mitochondrial DNA depletion syndrome 1, not provided,
Hereditary spastic paraplegia, Progressive sclerosing poliodystrophy ...see more		Conflicting interpretations of pathogenicity
(Aug 1, 2023)		criteria provided, conflicting interpretations
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