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Items: 1 to 100 of 263

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr22:50964794
GRCh38:
Chr22:50526365
SCO2, TYMPL347PMitochondrial DNA depletion syndrome 1, not providedPathogenic/Likely pathogenic
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr22:50964204
GRCh38:
Chr22:50525775
SCO2, TYMPQ482*, Q487*Mitochondrial DNA depletion syndrome 1Uncertain significance
(Feb 2, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr22:50967659
GRCh38:
Chr22:50529230
TYMPW108*Mitochondrial DNA depletion syndrome 1, not providedPathogenic
(May 17, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr22:50968052-50968053
GRCh38:
Chr22:50529623-50529624
TYMPS30fsMitochondrial DNA depletion syndrome 1Pathogenic
(Dec 1, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr22:50965607
GRCh38:
Chr22:50527178
TYMPL251PMitochondrial DNA depletion syndrome 1Uncertain significance
(Sep 7, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr22:50964543
GRCh38:
Chr22:50526114
SCO2, TYMPP396L, P401LMitochondrial DNA depletion syndrome 1Uncertain significance
(Sep 1, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr22:50965103-50965104
GRCh38:
Chr22:50526674-50526675
TYMPL277fsMitochondrial DNA depletion syndrome 1Likely pathogenic
(Jul 13, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr22:50965664
GRCh38:
Chr22:50527235
TYMPV232AMitochondrial DNA depletion syndrome 1Uncertain significance
(Sep 2, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr22:50964725
GRCh38:
Chr22:50526296
SCO2, TYMPQ370LMitochondrial DNA depletion syndrome 1Uncertain significance
(May 21, 2020)		criteria provided, single submitter
10.
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
11.
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
12.
GRCh37:
Chr22:50967924
GRCh38:
Chr22:50529495
TYMPnot provided, Mitochondrial DNA depletion syndrome 1Likely pathogenic
(Jun 25, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr22:50967747
GRCh38:
Chr22:50529318
TYMPR79*not provided, Mitochondrial DNA depletion syndrome 1Pathogenic/Likely pathogenic
(Oct 1, 2021)		criteria provided, multiple submitters, no conflicts
14.
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
15.
GRCh37:
Chr22:50967961
GRCh38:
Chr22:50529532
TYMPA60TMitochondrial DNA depletion syndrome 1, not providedUncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
16.
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
17.
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
18.
GRCh37:
Chr22:50965623
GRCh38:
Chr22:50527194
TYMPE246Knot provided, Mitochondrial DNA depletion syndrome 1Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
19.
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
20.
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
21.
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
22.
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
23.
GRCh37:
Chr22:50964527-50964532
GRCh38:
Chr22:50526098-50526103
SCO2, TYMPMitochondrial DNA depletion syndrome 1Pathogeniccriteria provided, single submitter
24.
GRCh37:
Chr22:50965124
GRCh38:
Chr22:50526695
TYMPL270PMitochondrial DNA depletion syndrome 1, not providedLikely pathogenic
(Jun 29, 2022)		criteria provided, multiple submitters, no conflicts
25.
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
26.
GRCh37:
Chr22:50965071
GRCh38:
Chr22:50526642
TYMPE288Knot provided, Mitochondrial DNA depletion syndrome 1Uncertain significance
(Aug 11, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr22:50965220
GRCh38:
Chr22:50526791
TYMPMitochondrial DNA depletion syndrome 1Benign
(Jul 10, 2021)		criteria provided, single submitter
28.
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
29.
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
30.
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
31.
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
32.
GRCh37:
Chr22:50968026
GRCh38:
Chr22:50529597
TYMPE38GMitochondrial DNA depletion syndrome 1Uncertain significance
(Mar 27, 2019)		criteria provided, single submitter
33.
GRCh37:
Chr22:50964753
GRCh38:
Chr22:50526324
SCO2, TYMPC361RMitochondrial DNA depletion syndrome 1Uncertain significance
(Mar 6, 2020)		criteria provided, single submitter
34.
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
35.
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
36.
GRCh37:
Chr22:50964882
GRCh38:
Chr22:50526453
TYMPG318Rnot provided, Mitochondrial DNA depletion syndrome 1Uncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr22:50968342
GRCh38:
Chr22:50529913
TYMPMitochondrial DNA depletion syndrome 1Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
38.
GRCh37:
Chr22:50968111
GRCh38:
Chr22:50529682
TYMPG10RMitochondrial DNA depletion syndrome 1Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
39.
GRCh37:
Chr22:50968093
GRCh38:
Chr22:50529664
TYMPG16RMitochondrial DNA depletion syndrome 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
40.
GRCh37:
Chr22:50967946
GRCh38:
Chr22:50529517
TYMPS65Gnot provided, Mitochondrial DNA depletion syndrome 1Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr22:50964281
GRCh38:
Chr22:50525852
SCO2, TYMPQ461R, Q456RMitochondrial DNA depletion syndrome 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr22:50964246
GRCh38:
Chr22:50525817
TYMP, SCO2A473S, A468SMitochondrial DNA depletion syndrome 1Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
43.
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
44.
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
45.
GRCh37:
Chr22:50964786
GRCh38:
Chr22:50526357
SCO2, TYMPQ350*Mitochondrial DNA depletion syndrome 1Pathogenic
(Feb 5, 2020)		no assertion criteria provided
46.
GRCh37:
Chr15:89876655
GRCh38:
Chr15:89333424
POLG, POLGARFG111RProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b, Mitochondrial DNA depletion syndrome 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1not provided,
Progressive sclerosing poliodystrophy, ...see more		Uncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr15:89861988
GRCh38:
Chr15:89318757
POLG, POLGARFProgressive sclerosing poliodystrophy, 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
48.
GRCh37:
Chr22:50964833
GRCh38:
Chr22:50526404
SCO2, TYMPL334RMitochondrial DNA depletion syndrome 1Likely pathogenic
(Jul 17, 2019)		criteria provided, single submitter
49.
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
50.
GRCh37:
Chr22:50966914
GRCh38:
Chr22:50528485
TYMPnot provided, Mitochondrial DNA depletion syndrome 1Benign
(Jul 10, 2021)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr15:89872328
GRCh38:
Chr15:89329097
POLG, POLGARFR290Hnot provided, Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy		Uncertain significance
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr22:50968128
GRCh38:
Chr22:50529699
TYMPMitochondrial DNA depletion syndrome 1, not providedPathogenic/Likely pathogenic
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr22:50964906
GRCh38:
Chr22:50526477
TYMPMitochondrial DNA depletion syndrome 1Uncertain significance
(Apr 28, 2017)		criteria provided, single submitter
54.
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
55.
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
56.
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
57.
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
58.
GRCh37:
Chr15:89860605
GRCh38:
Chr15:89317374
POLGARF, POLGMitochondrial diseasePathogenic
(May 6, 2021)		reviewed by expert panel
FDA Recognized Database
59.
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
60.
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
61.
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
62.
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
63.
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
64.
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
65.
GRCh37:
Chr22:50964339-50964340
GRCh38:
Chr22:50525910-50525911
SCO2, TYMPW437fs, W442fsMitochondrial DNA depletion syndrome 1Likely pathogenic
(Oct 10, 2017)		criteria provided, single submitter
66.
GRCh37:
Chr22:50964207
GRCh38:
Chr22:50525778
SCO2, TYMPQ481*, Q486*not provided, Mitochondrial DNA depletion syndrome 1Uncertain significance
(May 29, 2022)		criteria provided, multiple submitters, no conflicts
67.
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
68.
GRCh37:
Chr22:50966161
GRCh38:
Chr22:50527732
TYMPMitochondrial DNA depletion syndrome 1, not specified, not provided
Conflicting interpretations of pathogenicity
(Aug 27, 2022)		criteria provided, conflicting interpretations
69.
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
70.
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
71.
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
72.
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
73.
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
74.
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
75.
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
76.
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
77.
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
78.
GRCh37:
Chr22:50965594-50965596
GRCh38:
Chr22:50527165-50527167
TYMPL255delMitochondrial DNA depletion syndrome 1Pathogenic
(Mar 1, 2016)		criteria provided, single submitter
79.
GRCh37:
Chr22:50966035
GRCh38:
Chr22:50527606
TYMPS210RMitochondrial DNA depletion syndrome 1Pathogenic
(Mar 1, 2016)		criteria provided, single submitter
80.
GRCh37:
Chr15:89876357
GRCh38:
Chr15:89333126
POLG, POLGARFT210IProgressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,
Progressive sclerosing poliodystrophy, not provided		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr15:89869942
GRCh38:
Chr15:89326711
POLG, POLGARFE538AInborn genetic diseases, Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 1,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Progressive sclerosing poliodystrophy, not provided
Uncertain significance
(Jun 8, 2023)		criteria provided, multiple submitters, no conflicts
82.
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisLikely pathogenic
(Mar 18, 2014)		criteria provided, single submitter
83.
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
84.
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
85.
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
86.
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
87.
GRCh37:
Chr22:50968472
GRCh38:
Chr22:50530043
TYMPMitochondrial DNA depletion syndrome 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
88.
GRCh37:
Chr22:50968414
GRCh38:
Chr22:50529985
TYMPMitochondrial DNA depletion syndrome 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
89.
GRCh37:
Chr22:50968406
GRCh38:
Chr22:50529977
TYMPMitochondrial DNA depletion syndrome 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
90.
GRCh37:
Chr22:50968092
GRCh38:
Chr22:50529663
TYMPG16AMitochondrial DNA depletion syndrome 1, not provided, Inborn genetic diseases
Uncertain significance
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr22:50967937
GRCh38:
Chr22:50529508
TYMPG68SMitochondrial DNA depletion syndrome 1Uncertain significance
(May 18, 2021)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr22:50967918-50967919
GRCh38:
Chr22:50529489-50529490
TYMPMitochondrial DNA depletion syndrome 1Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
93.
GRCh37:
Chr22:50967638
GRCh38:
Chr22:50529209
TYMPK115RMitochondrial DNA depletion syndrome 1Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
94.
GRCh37:
Chr22:50966931
GRCh38:
Chr22:50528502
TYMPMitochondrial DNA depletion syndrome 1, not providedConflicting interpretations of pathogenicity
(Sep 22, 2022)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr22:50966927
GRCh38:
Chr22:50528498
TYMPMitochondrial DNA depletion syndrome 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
96.
GRCh37:
Chr22:50966100
GRCh38:
Chr22:50527671
TYMPS188TMitochondrial DNA depletion syndrome 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
97.
GRCh37:
Chr22:50966077
GRCh38:
Chr22:50527648
TYMPG196RMitochondrial DNA depletion syndrome 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
98.
GRCh37:
Chr22:50965720
GRCh38:
Chr22:50527291
TYMPnot provided, Mitochondrial DNA depletion syndrome 1Conflicting interpretations of pathogenicity
(Dec 23, 2021)		criteria provided, conflicting interpretations
99.
GRCh37:
Chr22:50965603
GRCh38:
Chr22:50527174
TYMPnot provided, Mitochondrial DNA depletion syndrome 1Conflicting interpretations of pathogenicity
(Aug 31, 2022)		criteria provided, conflicting interpretations
100.
GRCh37:
Chr22:50965177
GRCh38:
Chr22:50526748
TYMPMitochondrial DNA depletion syndrome 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
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