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Items: 1 to 100 of 132

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:
Chr15:89876584
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
19.
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
20.
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
21.
GRCh37:
Chr15:89861972
GRCh38:
Chr15:89318741
POLG, POLGARFS1095fsProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4bLikely pathogeniccriteria provided, single submitter
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:
Chr15:89873323
GRCh38:
Chr15:89330092
POLG, POLGARFY282DMitochondrial DNA depletion syndrome 4b, not provided, Progressive sclerosing poliodystrophy
Conflicting interpretations of pathogenicity
(Jul 28, 2022)		criteria provided, conflicting interpretations
24.
GRCh37:
Chr15:89861988
GRCh38:
Chr15:89318757
POLG, POLGARFProgressive 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		Likely benign
(Sep 17, 2021)		criteria provided, multiple submitters, no conflicts
25.
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
26.
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
27.
GRCh37:
Chr15:89862179-89862180
GRCh38:
Chr15:89318948-89318949
POLGARF, POLGS1086fsProgressive sclerosing poliodystrophyPathogenic
(Dec 19, 2018)		criteria provided, single submitter
28.
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
29.
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
30.
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
31.
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
32.
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
33.
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
34.
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
35.
GRCh37:
Chr15:89860605
GRCh38:
Chr15:89317374
POLGARF, POLGMitochondrial diseasePathogenic
(May 6, 2021)		reviewed by expert panel
FDA Recognized Database
36.
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
37.
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
38.
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
39.
GRCh37:
Chr15:89876555
GRCh38:
Chr15:89333324
POLGARF, POLGQ144RMitochondrial DNA depletion syndrome 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b,
Inborn genetic diseases, Progressive sclerosing poliodystrophy, not provided
Uncertain significance
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr15:89876726
GRCh38:
Chr15:89333495
POLG, POLGARFI87TInborn genetic diseases, Progressive sclerosing poliodystrophyUncertain significance
(Jan 14, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr15:89867339
GRCh38:
Chr15:89324108
POLG, POLGARFT690MInborn genetic diseases, not provided, 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, Progressive sclerosing poliodystrophy
Uncertain significance
(Aug 18, 2022)		criteria provided, multiple submitters, no conflicts
42.
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
43.
GRCh37:
Chr2:109545745
GRCh38:
Chr2:108929289
EDAR, RANBP2R89CAutosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominantPathogenic
(Jun 28, 2022)		criteria provided, single submitter
44.
GRCh37:
Chr15:89869932-89869940
GRCh38:
Chr15:89326701-89326709
POLG, POLGARFProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive sclerosing poliodystrophy, not provided,
Mitochondrial DNA depletion syndrome 4b		Conflicting interpretations of pathogenicity
(Apr 23, 2022)		criteria provided, conflicting interpretations
45.
GRCh37:
Chr15:89876973
GRCh38:
Chr15:89333742
POLG, POLGARFL5FMitochondrial DNA depletion syndrome 4bUncertain significance
(Dec 3, 2017)		criteria provided, single submitter
46.
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
47.
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
48.
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
49.
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
50.
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
51.
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
52.
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
53.
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
54.
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
55.
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
56.
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
57.
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
58.
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisLikely pathogenic
(Mar 18, 2014)		criteria provided, single submitter
59.
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
60.
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
61.
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
62.
GRCh37:
Chr15:89862231
GRCh38:
Chr15:89319000
POLG, POLGARFD1068Enot specified, Progressive sclerosing poliodystrophy, 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,
Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b,
not provided		Uncertain significance
(Jul 24, 2023)		criteria provided, multiple submitters, no conflicts
63.
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
64.
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
65.
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
66.
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
67.
GRCh37:
Chr15:89862488
GRCh38:
Chr15:89319257
POLG, POLGARFProgressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy,
not provided		Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
68.
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
69.
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
70.
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
71.
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
72.
GRCh37:
Chr15:89876658
GRCh38:
Chr15:89333427
POLG, POLGARFH110YInborn genetic diseases, not provided, Progressive sclerosing poliodystrophy,
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 specified
Conflicting interpretations of pathogenicity
(Oct 12, 2022)		criteria provided, conflicting interpretations
73.
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
74.
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
75.
GRCh37:
Chr15:89870429
GRCh38:
Chr15:89327198
POLG, POLGARFN468DPOLG-Related Spectrum Disorders, Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b,
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, Mitochondrial DNA depletion syndrome 1,
Hereditary spastic paraplegia, Progressive sclerosing poliodystrophyProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Seizure, Intellectual disability,
Inborn genetic diseases, not provided, 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 specified, ...see more		Conflicting interpretations of pathogenicity
(Aug 25, 2023)		criteria provided, conflicting interpretations
76.
GRCh37:
Chr15:89870503
GRCh38:
Chr15:89327272
POLG, POLGARFR443HSensory 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, Mitochondrial DNA depletion syndrome 1,
not provided		Uncertain significance
(Jan 30, 2020)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr15:89871930
GRCh38:
Chr15:89328699
POLG, POLGARFR386CProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
POLG-Related Spectrum Disorders, Progressive sclerosing poliodystrophy, not provided
Conflicting interpretations of pathogenicity
(Oct 25, 2022)		criteria provided, conflicting interpretations
78.
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
79.
GRCh37:
Chr15:89873337
GRCh38:
Chr15:89330106
POLG, POLGARFH277LPOLG-Related Spectrum Disorders, Mitochondrial DNA depletion syndrome, Inborn genetic diseases,
Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b, not specified,
not provided, Hereditary spastic paraplegia, Progressive sclerosing poliodystrophy
Conflicting interpretations of pathogenicity
(May 17, 2023)		criteria provided, conflicting interpretations
80.
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
81.
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
82.
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
83.
GRCh37:
Chr15:89861968
GRCh38:
Chr15:89318737
POLG, POLGARFR1096CMitochondrial diseaseLikely pathogenic
(May 23, 2021)		reviewed by expert panel
FDA Recognized Database
84.
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
85.
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
86.
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
87.
GRCh37:
Chr15:89864088
GRCh38:
Chr15:89320857
POLG, POLGARFR964Cnot specified, not provided, Progressive sclerosing poliodystrophy,
POLG-Related Spectrum Disorders, Inborn genetic diseases, Progressive sclerosing poliodystrophy,
Mitochondrial DNA depletion syndrome 4b, Hereditary spastic paraplegia, Mitochondrial DNA depletion syndrome 4b,
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke		Conflicting interpretations of pathogenicity
(Mar 30, 2023)		criteria provided, conflicting interpretations
88.
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
89.
GRCh37:
Chr15:89866693
GRCh38:
Chr15:89323462
POLG, POLGARFN736SPOLG-Related Spectrum Disorders, 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,
Mitochondrial DNA depletion syndrome 1, not provided, not specified,
Inborn genetic diseases, Progressive sclerosing poliodystrophy ...see more		Conflicting interpretations of pathogenicity
(Oct 30, 2022)		criteria provided, conflicting interpretations
90.
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
91.
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
92.
GRCh37:
Chr15:89876827-89876828
GRCh38:
Chr15:89333596-89333597
POLGARF, POLGnot specified, Progressive sclerosing poliodystrophy, 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, Mitochondrial DNA depletion syndrome 1, Inborn genetic diseases,
not provided		Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr15:89876828-89876836
GRCh38:
Chr15:89333597-89333605
POLG, POLGARFSensory 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, Mitochondrial DNA depletion syndrome 1,
not provided, not specified, Hereditary spastic paraplegia,
Progressive sclerosing poliodystrophy, Inborn genetic diseasesMitochondrial DNA depletion syndrome 4b,
...see more		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr15:89876828-89876845
GRCh38:
Chr15:89333597-89333614
POLG, POLGARFInborn genetic diseases, 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,
Mitochondrial DNA depletion syndrome 1, not specified, Progressive sclerosing poliodystrophy
Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
95.
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
96.
GRCh37:
Chr15:89862465
GRCh38:
Chr15:89319234
POLG, POLGARFA1033VPOLG-Related Spectrum Disorders, 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,
Mitochondrial DNA depletion syndrome 1, not provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Progressive sclerosing poliodystrophy		Conflicting interpretations of pathogenicity
(Nov 3, 2022)		criteria provided, conflicting interpretations
97.
GRCh37:
Chr15:89867387
GRCh38:
Chr15:89324156
POLG, POLGARFG674DPOLG-Related Spectrum Disorders, not provided, Inborn genetic diseases,
not specified, Progressive sclerosing poliodystrophy, 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		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
98.
GRCh37:
Chr15:89869974
GRCh38:
Chr15:89326743
MIR6766, POLG, POLGARFnot specified, Inborn genetic diseases, not provided,
Progressive sclerosing poliodystrophy, Hereditary spastic paraplegia, 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 ...see more		Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr15:89871763
GRCh38:
Chr15:89328532
POLG, POLGARFL392VPOLG-Related Spectrum Disorders, Inborn genetic diseases, not specified,
not provided, Hereditary spastic paraplegia, 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, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisMitochondrial DNA depletion syndrome 4b,
...see more		Conflicting interpretations of pathogenicity
(Jul 1, 2023)		criteria provided, conflicting interpretations
100.
GRCh37:
Chr15:89873364
GRCh38:
Chr15:89330133
POLG, POLGARFG268APOLG-Related Spectrum Disorders, Charcot-Marie-Tooth disease axonal type 2U, 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, not specified, not provided,
Progressive sclerosing poliodystrophy, Hereditary spastic paraplegiaInborn genetic diseases,
...see more		Conflicting interpretations of pathogenicity
(Jun 1, 2023)		criteria provided, conflicting interpretations
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