Total 166 pathogenic variants reported for Progressive external ophthalmoplegia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_021830.5(TWNK):c.1423G>C (p.Ala475Pro) SNV
Germline		 Chr10:100989823 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 No Assertion Criteria Provided
 CA116958 rs_111033572

1 SubmittersRCV000004880
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr) SNV
Germline		 Chr10:100989285 Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Mitochondrial disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA116959 rs_111033573

5 SubmittersRCV000004881RCV000508874RCV002512779
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter) SNV
Germline		 Chr10:100989822 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Perrault syndrome 5		 Criteria Provided
Single Submitter
 CA116960 rs_111033574

2 SubmittersRCV000004882RCV002496262
NM_021830.5(TWNK):c.944G>T (p.Trp315Leu) SNV
Germline		 Chr10:100989154 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 No Assertion Criteria Provided
 CA116962 rs_111033575

1 SubmittersRCV000004883
NM_021830.5(TWNK):c.1061G>C (p.Arg354Pro) SNV
Germline		 Chr10:100989271 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 No Assertion Criteria Provided
 CA116963 rs_111033576

1 SubmittersRCV000004884
NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro) SNV
Germline		 Chr10:100989352 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Mitochondrial disease		 No Assertion Criteria Provided
 CA116964 rs_111033577

2 SubmittersRCV000004885RCV000508905
NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln) SNV
Germline		 Chr10:100989211 Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
Mitochondrial disease
Condition: not provided
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA116965 rs_28937887

6 SubmittersRCV000004886RCV000508769RCV001093424RCV001542762RCV002288465
NM_021830.5(TWNK):c.1106C>A (p.Ser369Tyr) SNV
Germline		 Chr10:100989316 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Criteria Provided
Multiple Submitters
No Conflicts
 CA116967 rs_111033579

3 SubmittersRCV000004887
NM_021830.5(TWNK):c.955A>G (p.Lys319Glu) SNV
Germline		 Chr10:100989165 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 No Assertion Criteria Provided
 CA116968 rs_80356543

2 SubmittersRCV000004888RCV000020867
NM_021830.5(TWNK):c.908G>A (p.Arg303Gln) SNV
Germline		 Chr10:100989118 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA116969 rs_137852956

3 SubmittersRCV000004891RCV001289123
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp) SNV
Germline		 Chr10:100989330 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA116970 rs_267606682

3 SubmittersRCV000004892RCV000523637
NM_007215.4(POLG2):c.1352G>A (p.Gly451Glu) SNV
Germline		 Chr17:64477929 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
POLG2-related disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117371 rs_104894632

3 SubmittersRCV000005594RCV003330384RCV004808547
NM_015713.5(RRM2B):c.979C>T (p.Arg327Ter) SNV
Germline		 Chr8:102208210 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
RRM2B-related mitochondrial disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117487 rs_121918310

8 SubmittersRCV000005722RCV000119016RCV000197531
NM_080916.3(DGUOK):c.679G>A (p.Glu227Lys) SNV
Germline		 Chr2:73957212 Pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Condition: not provided
Inborn genetic diseases
DGUOK-related disorder
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Portal hypertension, noncirrhotic, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254329 rs_104893632

6 SubmittersRCV000008636RCV001568974RCV002512917RCV004540991RCV004795384
NM_080916.3(DGUOK):c.763G>T (p.Asp255Tyr) SNV
Germline		 Chr2:73958201 Likely pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Portal hypertension, noncirrhotic, 1		 Criteria Provided
Single Submitter
 CA254330 rs_104893633

2 SubmittersRCV000008637RCV004795385
NC_012920.1(MT-TL1):m.3251A>G SNV
Germline		 ChrMT:3251 Likely pathogenic Progressive external ophthalmoplegia, proximal myopathy, and sudden death
Mitochondrial disease
MELAS syndrome		 Reviewed By Expert Panel
 CA120565 rs_199474662

4 SubmittersRCV000010218RCV004791201RCV000850691
NM_004614.5(TK2):c.323C>T (p.Thr108Met) SNV
Germline		 Chr16:66531432 Pathogenic Mitochondrial DNA depletion syndrome, myopathic form
Mitochondrial DNA depletion syndrome
Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
TK2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA324292 rs_137854431

14 SubmittersRCV000013547RCV003993743RCV000199738RCV003883499RCV004757106
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) SNV
Germline		 Chr15:89320883 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Mitochondrial disease
Condition: not provided
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341291 rs_113994099

10 SubmittersRCV000014439RCV000508934RCV000676321RCV000758267RCV003478975
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV
Germline		 Chr15:89327201 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Spinocerebellar ataxia with epilepsy
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Condition: not provided
POLG-Related Spectrum Disorders
Mitochondrial disease
6 conditions
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
POLG-related disorder
Mitochondrial DNA depletion syndrome 4b
Tip-toe gait
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Hereditary spastic paraplegia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Neurodevelopmental delay
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123140 rs_113994095

45 SubmittersRCV000014440RCV000014441RCV000014442RCV000014443RCV000184011RCV000188658RCV000347876RCV000508942RCV000515354RCV001004604RCV001095683RCV001198082RCV001376079RCV001731286RCV001847600RCV001813983RCV002273931RCV002316195
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) SNV
Germline		 Chr15:89329055 Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Condition: not provided
6 conditions
POLG-related disorder
Progressive sclerosing poliodystrophy
Inborn genetic diseases
Abnormality of the mitochondrion		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256883 rs_121918044

18 SubmittersRCV000014444RCV000188648RCV000762954RCV003387722RCV000626287RCV001266602RCV001813984
NM_002693.3(POLG):c.8G>C (p.Arg3Pro) SNV
Germline		 Chr15:89333747 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 No Assertion Criteria Provided
 CA256885 rs_121918045

1 SubmittersRCV000014445
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) SNV
Germline		 Chr15:89321792 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Condition: 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
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 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
Mitochondrial DNA depletion syndrome
POLG-Related Spectrum Disorders
Hereditary spastic paraplegia
6 conditions
Mitochondrial disease
Inborn genetic diseases
POLG-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123144 rs_113994098

37 SubmittersRCV000014449RCV000014450RCV000014451RCV000014452RCV000188580RCV001027839RCV000678386RCV002054437RCV003230362RCV000363602RCV001847601RCV000515163RCV002272018RCV002313707RCV003231103
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) SNV
Germline		 Chr15:89330184 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 1
Progressive sclerosing poliodystrophy
Condition: not provided
not specified
POLG-Related Spectrum Disorders
Global developmental delay
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Tip-toe gait
Abnormality of the nervous system
POLG-related disorder
Hereditary spastic paraplegia
Mitochondrial disease
Hypertrophic cardiomyopathy
Inborn genetic diseases
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
See cases		 Criteria Provided
Conflicting Classifications
 CA123142 rs_11394094

47 SubmittersRCV000014448RCV000014447RCV000020484RCV000184009RCV000188641RCV000194055RCV000262479RCV000415105RCV001004407RCV001642225RCV001678594RCV001813985RCV001813742RCV001847602RCV002272019RCV002319423RCV002313708RCV003458331RCV004584325
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) SNV
Germline		 Chr15:89325639 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 4b
Mitochondrial DNA depletion syndrome 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
not specified
Progressive sclerosing poliodystrophy
Global developmental delay
Condition: not provided
Mitochondrial disease
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Tip-toe gait
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
POLG-related disorder
Hereditary spastic paraplegia
Abnormality of the nervous system
Hypertrophic cardiomyopathy
Inborn genetic diseases
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
See cases		 Criteria Provided
Conflicting Classifications
 CA123146 rs_113994096

50 SubmittersRCV000014456RCV000020473RCV000186576RCV000193529RCV000408293RCV000415307RCV000427845RCV000508752RCV001004602RCV001610290RCV001642226RCV001813743RCV001847603RCV001813986RCV002319424RCV002313709RCV003458332RCV004584326
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) SNV
Germline		 Chr15:89323426 Pathogenic/Likely pathogenic Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Spinocerebellar ataxia with epilepsy
Progressive sclerosing poliodystrophy
Condition: not provided
POLG-Related Spectrum Disorders
not specified
Mitochondrial disease
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Inborn genetic diseases
POLG-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123150 rs_113994097

37 SubmittersRCV000014459RCV000014460RCV000014461RCV000080023RCV000313739RCV000507757RCV000508846RCV001198081RCV002247336RCV002313710RCV003985719
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser) SNV
Germline		 Chr15:89320878 Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive sclerosing poliodystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256895 rs_121918051

3 SubmittersRCV000014462RCV003460472
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) SNV
Germline		 Chr15:89321777 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Condition: not provided
not specified
Mitochondrial DNA depletion syndrome		 Criteria Provided
Conflicting Classifications
 CA256899 rs_121918053

6 SubmittersRCV000014466RCV000560575RCV003333951RCV001449754RCV003330388
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) SNV
Germline		 Chr15:89323460 Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Condition: not provided
Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders
Mitochondrial disease
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Inborn genetic diseases
Hereditary spastic paraplegia
Tip-toe gait
POLG-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA201029 rs_121918054

32 SubmittersRCV000014467RCV000188568RCV000233045RCV000370280RCV000508744RCV000768053RCV001004601RCV001813987RCV002316196RCV001847605RCV003318542RCV003985721
NM_002693.3(POLG):c.1532G>A (p.Ser511Asn) SNV
Germline		 Chr15:89326965 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 No Assertion Criteria Provided
 CA256901 rs_121918055

1 SubmittersRCV000014468
NM_001151.4(SLC25A4):c.340G>C (p.Ala114Pro) SNV
Germline		 Chr4:185144992 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 No Assertion Criteria Provided
 CA127984 rs_104893873

1 SubmittersRCV000019907
NM_001151.4(SLC25A4):c.865G>A (p.Val289Met) SNV
Germline		 Chr4:185146939 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 No Assertion Criteria Provided
 CA127985 rs_104893874

1 SubmittersRCV000019908
NM_001151.4(SLC25A4):c.293T>C (p.Leu98Pro) SNV
Germline		 Chr4:185144945 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 No Assertion Criteria Provided
 CA127986 rs_104893876

1 SubmittersRCV000019909
NM_001151.4(SLC25A4):c.311A>G (p.Asp104Gly) SNV
Germline		 Chr4:185144963 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 No Assertion Criteria Provided
 CA127987 rs_28999114

1 SubmittersRCV000019910
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) SNV
Germline		 Chr4:185145020 Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
Condition: not provided
Abnormality of mitochondrial metabolism
Hypertrophic cardiomyopathy
Inborn mitochondrial myopathy
Mitochondrial respiratory chain defects
Myopia
Progressive sensorineural hearing impairment
Vertigo
Left ventricular hypertrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127988 rs_121912683

6 SubmittersRCV000019911RCV000414338RCV000626769RCV000626767RCV000626768RCV001198599
NM_004614.5(TK2):c.133C>T (p.Gln45Ter) SNV
Germline		 Chr16:66549001 Pathogenic Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Mitochondrial DNA depletion syndrome, myopathic form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343286 rs_281865486

3 SubmittersRCV001852642RCV002496489
NM_004614.5(TK2):c.173A>G (p.Asn58Ser) SNV
Germline		 Chr16:66541937 Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Mitochondrial DNA depletion syndrome, myopathic form
Condition: not provided
Mitochondrial DNA depletion syndrome
Mitochondrial DNA depletion syndrome 2, myopathic form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343291 rs_138439950

5 SubmittersRCV000762978RCV000519291RCV004782026RCV004798750
NM_004614.5(TK2):c.416C>T (p.Ala139Val) SNV
Germline		 Chr16:66529027 Pathogenic/Likely pathogenic Condition: not provided
Mitochondrial DNA depletion syndrome, myopathic form
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Mitochondrial DNA depletion syndrome
TK2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA322107 rs_281865494

10 SubmittersRCV000197645RCV000762977RCV000615451RCV003904881
NM_004614.5(TK2):c.547C>T (p.Arg183Trp) SNV
Germline		 Chr16:66517207 Pathogenic Mitochondrial DNA depletion syndrome, myopathic form
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Condition: not provided
Mitochondrial DNA depletion syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA320800 rs_137886900

7 SubmittersRCV000032251RCV000239457RCV001380377RCV003230374
NM_004614.5(TK2):c.562A>G (p.Thr188Ala) SNV
Germline		 Chr16:66517192 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Condition: not provided		 Criteria Provided
Single Submitter
 CA343313 rs_281865495

2 SubmittersRCV000239458RCV001852646
NM_007215.4(POLG2):c.614C>G (p.Pro205Arg) SNV
Germline		 Chr17:64492970 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 No Assertion Criteria Provided
 CA130798 rs_397514659

1 SubmittersRCV000033245
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) SNV
Germline		 Chr15:89326947 Conflicting classifications of pathogenicity Mitochondrial disease
not specified
Idiopathic camptocormia
Condition: 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
POLG-Related Spectrum Disorders
Tip-toe gait
Inborn genetic diseases
Hereditary spastic paraplegia
POLG-related disorder		 Criteria Provided
Conflicting Classifications
 CA204012 rs_61752783

24 SubmittersRCV000055881RCV000118011RCV000186556RCV000223970RCV000229511RCV000768289RCV001117969RCV001352901RCV002311532RCV001847644RCV003985725
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) SNV
Germline		 Chr15:89319073 Conflicting classifications of pathogenicity Condition: not provided
Progressive sclerosing poliodystrophy
6 conditions
EEG abnormality
POLG-Related Spectrum Disorders
Hereditary spastic paraplegia
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Early-onset Parkinson disease 20
Inborn genetic diseases
not specified
POLG-related disorder		 Criteria Provided
Conflicting Classifications
 CA231404 rs_150233690

18 SubmittersRCV000118016RCV000234341RCV000515366RCV000678829RCV000778452RCV001847713RCV002243762RCV002272131RCV002316314RCV003330442RCV004732689
NM_015713.5(RRM2B):c.48G>A (p.Glu16=) SNV
Germline		 Chr8:102238827 Pathogenic/Likely pathogenic RRM2B-related mitochondrial disease
Mitochondrial disease
Mitochondrial DNA depletion syndrome 8a
Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction		 Criteria Provided
Multiple Submitters
No Conflicts
 CA345542 rs_515726180

7 SubmittersRCV000118982RCV000508788RCV001089491RCV001379488RCV002498540
NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser) SNV
Germline		 Chr8:102218827 Pathogenic/Likely pathogenic RRM2B-related mitochondrial disease
Condition: not provided
Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Multiple Submitters
No Conflicts
 CA324021 rs_515726196

7 SubmittersRCV000119006RCV000199478RCV000659254RCV002483200RCV004720239
NM_021830.5(TWNK):c.639C>T (p.Gly213=) SNV
Germline		 Chr10:100988849 Conflicting classifications of pathogenicity not specified
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Autosomal recessive cerebellar ataxia
Condition: not provided
Hereditary spastic paraplegia		 Criteria Provided
Conflicting Classifications
 CA302706 rs_11542130

8 SubmittersRCV000173516RCV000301625RCV000305599RCV000359159RCV000395926RCV000676300RCV001847741
NM_021830.5(TWNK):c.1735-14C>A SNV
Germline		 Chr10:100993176 Conflicting classifications of pathogenicity not specified
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA289762 rs_201795189

4 SubmittersRCV000124046RCV000314586RCV000335702RCV000369307RCV000396649RCV002055436
NM_002693.3(POLG):c.2601T>C (p.Pro867=) SNV
Germline		 Chr15:89321258 Conflicting classifications of pathogenicity not specified
POLG-Related Spectrum Disorders
Condition: not provided
Mitochondrial DNA depletion syndrome 4b
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
Progressive sclerosing poliodystrophy
POLG-related disorder		 Criteria Provided
Conflicting Classifications
 CA292834 rs_201749977

6 SubmittersRCV000127526RCV000403402RCV000734626RCV000709782RCV001457683RCV003985730
NM_002693.3(POLG):c.3482+6C>T SNV
Germline		 Chr15:89318535 Conflicting classifications of pathogenicity not specified
POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
Progressive sclerosing poliodystrophy
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
Condition: not provided
Hereditary spastic paraplegia
Mitochondrial DNA depletion syndrome 4b		 Criteria Provided
Conflicting Classifications
 CA292847 rs_55779802

10 SubmittersRCV000127539RCV000316461RCV000559092RCV000768049RCV000726414RCV001847754RCV003441747
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) SNV
Germline		 Chr10:100989382 Conflicting classifications of pathogenicity Perrault syndrome 5
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Autosomal recessive cerebellar ataxia
Condition: not provided
Perrault syndrome		 Criteria Provided
Conflicting Classifications
 CA174962 rs_556445621

5 SubmittersRCV000149470RCV000290037RCV000305281RCV000403533RCV000345001RCV002516005RCV002516006
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) SNV
Germline		 Chr15:89325562 Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy
Condition: not 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 4b
not specified
Inborn genetic diseases
POLG-related disorder
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b		 Criteria Provided
Conflicting Classifications
 CA302712 rs_147407423

14 SubmittersRCV000538134RCV000710183RCV000768055RCV000173762RCV002313026RCV003985737RCV004799186
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) SNV
Germline		 Chr15:89320890 Pathogenic/Likely pathogenic Condition: not provided
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
POLG-Related Spectrum Disorders
POLG-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA241026 rs_11546842

10 SubmittersRCV000175301RCV000758266RCV001808449RCV003323426RCV004732740
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) SNV
Germline		 Chr15:89330133 Conflicting classifications of pathogenicity not specified
Progressive sclerosing poliodystrophy
Condition: not provided
POLG-related disorder
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
POLG-Related Spectrum Disorders
Hereditary spastic paraplegia
Inborn genetic diseases
Tip-toe gait
Charcot-Marie-Tooth disease axonal type 2U		 Criteria Provided
Conflicting Classifications
 CA202319 rs_61752784

20 SubmittersRCV000177165RCV000233823RCV000415771RCV000709833RCV000768291RCV001121511RCV001847817RCV002312719RCV002227084RCV002516726
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) SNV
Germline		 Chr15:89319065 Conflicting classifications of pathogenicity Condition: not provided
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Inborn genetic diseases
Spinocerebellar ataxia with epilepsy
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
not specified
POLG-related disorder
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		 Criteria Provided
Conflicting Classifications
 CA316740 rs_181860632

18 SubmittersRCV000188603RCV000633548RCV001808470RCV002247605RCV002317146RCV003483565RCV003987434RCV004732764RCV004796081
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) SNV
Germline		 Chr15:89319234 Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy
Condition: not provided
6 conditions
POLG-Related Spectrum Disorders
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
POLG-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA316596 rs_551708243

12 SubmittersRCV000551001RCV000710186RCV000765239RCV001121338RCV001332169RCV004732759RCV004955314
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) SNV
Germline		 Chr15:89320857 Conflicting classifications of pathogenicity Condition: not provided
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Spinocerebellar atrophy
Mitochondrial DNA depletion syndrome 4b
Hereditary spastic paraplegia
not specified
Inborn genetic diseases
MELAS syndrome
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
POLG-related disorder
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		 Criteria Provided
Conflicting Classifications
 CA316719 rs_201477273

20 SubmittersRCV000188591RCV000490261RCV000633558RCV000984890RCV001808469RCV001847830RCV002247604RCV002317145RCV003232987RCV003992217RCV004732762RCV004796080
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln) SNV
Germline		 Chr15:89321776 Pathogenic/Likely pathogenic Condition: not provided
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Mitochondrial DNA depletion syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA316703 rs_796052888

6 SubmittersRCV000188583RCV000758451RCV003137764RCV003330554
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) SNV
Germline		 Chr15:89321780 Pathogenic Condition: not provided
Progressive sclerosing poliodystrophy
6 conditions
Intellectual disability
Hereditary spastic paraplegia
Inborn genetic diseases
POLG-Related Spectrum Disorders
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA316701 rs_144500145

15 SubmittersRCV000188581RCV000633537RCV000762953RCV001252349RCV001847829RCV002517007RCV004526636RCV004786515
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) SNV
Germline		 Chr15:89324156 Conflicting classifications of pathogenicity not specified
Progressive 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
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
POLG-Related Spectrum Disorders
Condition: not provided
Inborn genetic diseases
POLG-related disorder		 Criteria Provided
Conflicting Classifications
 CA316585 rs_200257554

9 SubmittersRCV000188510RCV000633561RCV000768054RCV001121414RCV001721213RCV002317140RCV003985742
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg) SNV
Germline		 Chr15:89325456 Pathogenic/Likely pathogenic Condition: not provided
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA316854 rs_796052906

5 SubmittersRCV000188671RCV000702972RCV002288793
NM_002693.3(POLG):c.1808T>C (p.Met603Thr) SNV
Germline		 Chr15:89325591 Conflicting classifications of pathogenicity Condition: not provided
Progressive sclerosing poliodystrophy
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Hereditary spastic paraplegia
not specified		 Criteria Provided
Conflicting Classifications
 CA316846 rs_367610201

6 SubmittersRCV000188667RCV001348402RCV001814096RCV001847837RCV003226244
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) SNV
Germline		 Chr15:89327198 Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy
Condition: not provided
Lennox-Gastaut syndrome
6 conditions
Progressive sclerosing poliodystrophy
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
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
POLG-Related Spectrum Disorders
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Hereditary spastic paraplegia
Inborn genetic diseases
not specified
POLG-related disorder
Mitochondrial disease
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b		 Criteria Provided
Conflicting Classifications
 CA316834 rs_145843073

24 SubmittersRCV000470781RCV000658725RCV000678827RCV000763995RCV001004603RCV001027840RCV001117972RCV001330959RCV001610504RCV001847836RCV002314743RCV003230444RCV004725036RCV004786516RCV004799199
NM_002693.3(POLG):c.915C>G (p.Ser305Arg) SNV
Germline		 Chr15:89329051 Pathogenic/Likely pathogenic Condition: not provided
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA316819 rs_769410130

7 SubmittersRCV000188649RCV000758271RCV000995844RCV001332170RCV002372152
NM_002693.3(POLG):c.862C>T (p.Arg288Cys) SNV
Germline		 Chr15:89329104 Conflicting classifications of pathogenicity Condition: not provided
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
Progressive sclerosing poliodystrophy		 Criteria Provided
Conflicting Classifications
 CA316815 rs_564582352

4 SubmittersRCV000188646RCV000768290RCV000806434
NM_002693.3(POLG):c.678G>C (p.Gln226His) SNV
Germline		 Chr15:89330258 Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy
Autism
Seizure
Condition: not provided
POLG-Related Spectrum Disorders
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Inborn genetic diseases
not specified
POLG-related disorder		 Criteria Provided
Conflicting Classifications
 CA316806 rs_147282197

17 SubmittersRCV000633538RCV000678826RCV000710188RCV001121513RCV001263148RCV001808471RCV002362986RCV003317141RCV004732768
NM_002693.3(POLG):c.328C>T (p.His110Tyr) SNV
Germline		 Chr15:89333427 Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy
Condition: not 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 4b
not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA316877 rs_139599587

9 SubmittersRCV000461638RCV000727081RCV000768048RCV001804925RCV002317148
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) SNV
Germline		 Chr2:73950603 Pathogenic/Likely pathogenic Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Inborn genetic diseases
DGUOK-related disorder
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		 Criteria Provided
Multiple Submitters
No Conflicts
 CA320135 rs_144181978

9 SubmittersRCV000195764RCV000239593RCV002517206RCV003895259RCV003235120
NM_080916.3(DGUOK):c.591G>A (p.Gln197=) SNV
Germline		 Chr2:73950732 Pathogenic Condition: not provided
Portal hypertension, noncirrhotic
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
DGUOK-related disorder
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		 Criteria Provided
Multiple Submitters
No Conflicts
 CA322101 rs_748597500

7 SubmittersRCV000197640RCV000763090RCV004528983RCV003333049
NM_015713.5(RRM2B):c.544A>G (p.Thr182Ala) SNV
Germline		 Chr8:102224052 Conflicting classifications of pathogenicity not specified
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA323548 rs_147315735

3 SubmittersRCV000199003RCV001164963RCV001164964RCV002517256
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) SNV
Germline		 Chr10:100989406 Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Condition: not provided
Perrault syndrome		 Criteria Provided
Conflicting Classifications
 CA324207 rs_863223921

6 SubmittersRCV000578276RCV001105895RCV001105894RCV001105893RCV001722090RCV002515383
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) SNV
Germline		 Chr10:100990973 Conflicting classifications of pathogenicity not specified
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Autosomal recessive cerebellar ataxia
Condition: not provided
TWNK-related disorder		 Criteria Provided
Conflicting Classifications
 CA323752 rs_116046810

4 SubmittersRCV000199218RCV000300073RCV000339690RCV000284653RCV000402465RCV000909034RCV004530166
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) SNV
Germline		 Chr10:100993430 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Condition: not provided
Perrault syndrome 5
Infantile onset spinocerebellar ataxia
Perrault syndrome 5		 Criteria Provided
Conflicting Classifications
 CA324977 rs_370814108

6 SubmittersRCV000267823RCV000322888RCV000381173RCV000326494RCV000712523RCV001838991RCV004558440
NM_021830.5(TWNK):c.2045G>A (p.Arg682His) SNV
Germline		 Chr10:100993500 Conflicting classifications of pathogenicity Autosomal recessive cerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Hereditary spastic paraplegia
Condition: not provided
TWNK-related disorder		 Criteria Provided
Conflicting Classifications
 CA323951 rs_182559752

6 SubmittersRCV000374204RCV000283282RCV000377740RCV000338208RCV001847877RCV000871398RCV004530167
NM_007215.4(POLG2):c.181G>A (p.Gly61Arg) SNV
Germline		 Chr17:64496788 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA325221 rs_144148008

4 SubmittersRCV001128514RCV001092729
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) SNV
Germline		 Chr10:100989114 Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia
Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
not specified		 Criteria Provided
Conflicting Classifications
 CA5653134 rs_374997012

7 SubmittersRCV000239858RCV001762457RCV003989505RCV003317155
NM_007215.4(POLG2):c.544C>T (p.Arg182Trp) SNV
Germline		 Chr17:64496425 Conflicting classifications of pathogenicity Acute liver failure
Condition: not provided
Mitochondrial DNA depletion syndrome 16A
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4		 Criteria Provided
Conflicting Classifications
 CA10586136 rs_886037843

5 SubmittersRCV000258005RCV000432548RCV000824678RCV002290967
NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser) SNV
Germline		 Chr2:73927047 Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Portal hypertension, noncirrhotic
Condition: not provided
Portal hypertension, noncirrhotic, 1
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1718151 rs_763615602

4 SubmittersRCV000239535RCV000239586RCV001550857RCV001799645RCV001824706
NM_080916.3(DGUOK):c.130G>A (p.Glu44Lys) SNV
Germline		 Chr2:73927040 Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1718150 rs_762550967

4 SubmittersRCV000239555RCV001782737
NM_080916.3(DGUOK):c.186C>A (p.Tyr62Ter) SNV
Germline		 Chr2:73938953 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 No Assertion Criteria Provided
 CA10586178 rs_879255617

1 SubmittersRCV000239511
NM_080916.3(DGUOK):c.444-11C>G SNV
Germline		 Chr2:73950574 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10586179 rs_536746349

4 SubmittersRCV000239560RCV000478803
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) SNV
Germline		 Chr10:100993505 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions
Mitochondrial DNA depletion syndrome
Ataxia Neuropathy Spectrum Disorders
Autosomal recessive cerebellar ataxia
Infantile onset spinocerebellar ataxia
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5653396 rs_369223258

8 SubmittersRCV000278667RCV000312773RCV000352301RCV000406261RCV001336025RCV001722382RCV001848044RCV004021053
NM_021830.5(TWNK):c.241C>G (p.Leu81Val) SNV
Germline		 Chr10:100988451 Conflicting classifications of pathogenicity Condition: not provided
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Hereditary spastic paraplegia		 Criteria Provided
Conflicting Classifications
 CA5653043 rs_145068570

7 SubmittersRCV000320273RCV001107964RCV001107963RCV001107965RCV001102728RCV001848043
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) SNV
Germline		 Chr15:89322749 Pathogenic Progressive sclerosing poliodystrophy
Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
POLG-related disorder
Neonatal seizure		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7724495 rs_769827124

9 SubmittersRCV000547242RCV000261805RCV000626194RCV001263147RCV004732814RCV004819196
NM_021830.5(TWNK):c.384C>T (p.Ser128=) SNV
Germline		 Chr10:100988594 Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia
Condition: not provided
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Hereditary spastic paraplegia		 Criteria Provided
Conflicting Classifications
 CA5653057 rs_148234280

6 SubmittersRCV000294722RCV000336672RCV000347919RCV000351895RCV000386725RCV001848047
NM_001151.4(SLC25A4):c.732G>C (p.Arg244=) SNV
Germline		 Chr4:185145892 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10620534 rs_886059266

2 SubmittersRCV000334374RCV003660789
NM_015713.5(RRM2B):c.*2822A>T SNV
Germline		 Chr8:102205311 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Conflicting Classifications
 CA10624458 rs_189278573

1 SubmittersRCV000300250RCV000357451
NM_015713.5(RRM2B):c.*11G>A SNV
Germline		 Chr8:102208122 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a
not specified		 Criteria Provided
Conflicting Classifications
 CA4830952 rs_29000285

2 SubmittersRCV000278088RCV000342400RCV000424236
NM_015713.5(RRM2B):c.*3078G>T SNV
Germline		 Chr8:102205055 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a		 Criteria Provided
Conflicting Classifications
 CA10626634 rs_113860402

1 SubmittersRCV000289425RCV000381514
NM_015713.5(RRM2B):c.*817G>A SNV
Germline		 Chr8:102207316 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Conflicting Classifications
 CA10626671 rs_190474682

1 SubmittersRCV000355046RCV000406402
NM_021830.5(TWNK):c.-650A>G SNV
Germline		 Chr10:100987561 Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10627852 rs_187213541

2 SubmittersRCV000278960RCV000336415RCV000351651RCV000403866RCV002292507
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) SNV
Germline		 Chr10:100989252 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5653154 rs_62626271

9 SubmittersRCV000273839RCV000296339RCV000331424RCV000388304RCV000994494RCV004021460
NM_021830.5(TWNK):c.1488T>C (p.Thr496=) SNV
Germline		 Chr10:100990439 Conflicting classifications of pathogenicity Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Condition: not provided
TWNK-related disorder		 Criteria Provided
Conflicting Classifications
 CA5653252 rs_549767223

3 SubmittersRCV000301666RCV000356457RCV000359896RCV000395193RCV003105861RCV004544498
NM_015713.5(RRM2B):c.913G>T (p.Ala305Ser) SNV
Germline		 Chr8:102208276 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4830963 rs_201440849

2 SubmittersRCV000303281RCV000392494RCV003766074
NM_015713.5(RRM2B):c.756G>A (p.Arg252=) SNV
Germline		 Chr8:102214087 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4831008 rs_377736828

2 SubmittersRCV000269016RCV000314816RCV003766075
NM_015713.5(RRM2B):c.540A>G (p.Lys180=) SNV
Germline		 Chr8:102224056 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Condition: not provided
Mitochondrial DNA depletion syndrome 8a		 Criteria Provided
Conflicting Classifications
 CA4831078 rs_200301242

4 SubmittersRCV000275167RCV000963226RCV000369842
NM_015713.5(RRM2B):c.790-9T>C SNV
Germline		 Chr8:102212898 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a
Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Conflicting Classifications
 CA4830991 rs_573435546

2 SubmittersRCV000308909RCV002523609RCV000363537
NM_021830.5(TWNK):c.-290G>C SNV
Germline		 Chr10:100987921 Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 Criteria Provided
Conflicting Classifications
 CA10630756 rs_62626270

1 SubmittersRCV000260000RCV000317524RCV000370858RCV000374562
NM_021830.5(TWNK):c.*301C>T SNV
Germline		 Chr10:100993811 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Autosomal recessive cerebellar ataxia
Infantile onset spinocerebellar ataxia		 Criteria Provided
Conflicting Classifications
 CA10630757 rs_41291468

1 SubmittersRCV000261655RCV000316885RCV000320279RCV000356361
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) SNV
Germline		 Chr10:100988286 Conflicting classifications of pathogenicity Autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5653019 rs_577209883

3 SubmittersRCV000311980RCV000350458RCV000398995RCV000406517RCV001515622
NM_021830.5(TWNK):c.492C>T (p.Leu164=) SNV
Germline		 Chr10:100988702 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Autosomal recessive cerebellar ataxia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5653070 rs_775463083

3 SubmittersRCV000279300RCV000336716RCV000395922RCV000405350RCV002262948
NM_021830.5(TWNK):c.922T>C (p.Leu308=) SNV
Germline		 Chr10:100989132 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5653139 rs_754389465

2 SubmittersRCV000270402RCV000327796RCV000362650RCV000366062RCV000872826
NM_021830.5(TWNK):c.1101C>T (p.Ile367=) SNV
Germline		 Chr10:100989311 Conflicting classifications of pathogenicity Autosomal recessive cerebellar ataxia
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Condition: not provided
Hereditary spastic paraplegia		 Criteria Provided
Conflicting Classifications
 CA5653164 rs_200798080

3 SubmittersRCV000281131RCV000316283RCV000338588RCV000373330RCV002059511RCV001848070
NM_021830.5(TWNK):c.*204G>A SNV
Germline		 Chr10:100993714 Conflicting classifications of pathogenicity Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Condition: not provided
Hereditary spastic paraplegia		 Criteria Provided
Conflicting Classifications
 CA10634372 rs_61871507

3 SubmittersRCV000308919RCV000348968RCV000363555RCV000404345RCV001582924RCV001848071
NM_021830.5(TWNK):c.*419A>T SNV
Germline		 Chr10:100993929 Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Autosomal recessive cerebellar ataxia		 Criteria Provided
Conflicting Classifications
 CA10634375 rs_187553791

1 SubmittersRCV000289702RCV000293240RCV000348190RCV000390735
NM_007215.4(POLG2):c.674G>A (p.Arg225Gln) SNV
Germline		 Chr17:64492910 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Condition: not provided
not specified
Hereditary spastic paraplegia		 Criteria Provided
Conflicting Classifications
 CA8712956 rs_148101254

5 SubmittersRCV000335486RCV000441311RCV000421922RCV001848667
NM_007215.4(POLG2):c.496C>G (p.Gln166Glu) SNV
Germline		 Chr17:64496473 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA8713012 rs_370683331

5 SubmittersRCV000314651RCV001775769RCV004021710
NM_002936.6(RNASEH1):c.424G>A (p.Val142Ile) SNV
Germline		 Chr2:3550458 Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1516262 rs_766294940

5 SubmittersRCV000412621RCV001566031
NM_002936.6(RNASEH1):c.469C>T (p.Arg157Ter) SNV
Germline		 Chr2:3550413 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Condition: not provided		 Criteria Provided
Single Submitter
 CA1516256 rs_373442996

2 SubmittersRCV000412498RCV002523895
NM_002936.6(RNASEH1):c.554C>T (p.Ala185Val) SNV
Germline		 Chr2:3549068 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 No Assertion Criteria Provided
 CA16042236 rs_1057517675

1 SubmittersRCV000412557
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) SNV
Germline		 Chr10:100990885 Conflicting classifications of pathogenicity Condition: not provided
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Infantile onset spinocerebellar ataxia
Hereditary spastic paraplegia
not specified
TWNK-related disorder		 Criteria Provided
Conflicting Classifications
 CA5653294 rs_144001072

7 SubmittersRCV000726623RCV001105999RCV001105997RCV001105998RCV001106000RCV001848766RCV003993959RCV004533016
NM_007215.4(POLG2):c.562+11C>T SNV
Germline		 Chr17:64496396 Conflicting classifications of pathogenicity not specified
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8713001 rs_782336056

3 SubmittersRCV000426134RCV001126453RCV002062693
NM_021830.5(TWNK):c.1003C>A (p.Pro335Thr) SNV
Germline		 Chr10:100989213 Conflicting classifications of pathogenicity Condition: not provided
Mitochondrial disease
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		 Criteria Provided
Conflicting Classifications
 CA378209644 rs_1554887028

4 SubmittersRCV000497430RCV000508711RCV001332412
NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln) SNV
Germline		 Chr10:100989331 Pathogenic/Likely pathogenic Condition: not provided
Mitochondrial disease
8 conditions
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA378209878 rs_1554887097

6 SubmittersRCV000517894RCV000508920RCV000626956RCV004689760
NM_021830.5(TWNK):c.1374G>T (p.Gln458His) SNV
Germline		 Chr10:100989774 Pathogenic Mitochondrial disease
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		 Criteria Provided
Single Submitter
 CA378210725 rs_1554887213

2 SubmittersRCV000508722RCV004787794
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu) SNV
Germline		 Chr10:100988266 Conflicting classifications of pathogenicity Condition: not provided
Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 Criteria Provided
Conflicting Classifications
 CA5653011 rs_767175342

3 SubmittersRCV000489778RCV001107307RCV001107308RCV001107309RCV001107306
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu) SNV
Germline		 Chr15:89317492 Conflicting classifications of pathogenicity Condition: not provided
Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders
Inborn genetic diseases
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		 Criteria Provided
Conflicting Classifications
 CA7724103 rs_776031396

7 SubmittersRCV000493365RCV000686358RCV001375606RCV002524050RCV004760533
NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter) SNV
Germline		 Chr17:18305208 Pathogenic Mitochondrial disease
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5		 No Assertion Criteria Provided
 CA8430230 rs_200944917

2 SubmittersRCV000627803RCV000678503
NM_004618.5(TOP3A):c.298A>G (p.Met100Val) SNV
Germline		 Chr17:18308367 Pathogenic Mitochondrial disease
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5		 No Assertion Criteria Provided
 CA8430293 rs_376902371

2 SubmittersRCV000627802RCV000678502
NM_007215.4(POLG2):c.673C>T (p.Arg225Ter) SNV
Germline		 Chr17:64492911 Conflicting classifications of pathogenicity Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4		 Criteria Provided
Conflicting Classifications
 CA8712958 rs_371515325

3 SubmittersRCV000579319RCV000778909
NM_021830.5(TWNK):c.1244-14C>T SNV
Germline		 Chr10:100989630 Conflicting classifications of pathogenicity not specified
Autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 Criteria Provided
Conflicting Classifications
 CA5653201 rs_758757135

2 SubmittersRCV000616455RCV001108147RCV001108144RCV001108145RCV001108146
NM_002693.3(POLG):c.3104+3A>T SNV
Germline		 Chr15:89319225 Pathogenic Progressive sclerosing poliodystrophy
Inborn genetic diseases
Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_778573169

7 SubmittersRCV000758418RCV002312352RCV003151809RCV004783847
NM_002693.3(POLG):c.2669A>C (p.Asp890Ala) SNV
Germline		 Chr15:89321190 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Criteria Provided
Single Submitter
 rs_1567186779

1 SubmittersRCV000758456
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) SNV
Germline		 Chr10:100989280 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_758026634

3 SubmittersRCV000779014RCV001102837RCV001102838RCV001102839RCV003222127
NM_004618.5(TOP3A):c.1723A>G (p.Met575Val) SNV
Germline		 Chr17:18285296 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_372121045

2 SubmittersRCV000787955RCV003362937
NM_002693.3(POLG):c.1198G>A (p.Val400Met) SNV
Germline		 Chr15:89328508 Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		 Criteria Provided
Conflicting Classifications
 rs_529639381

2 SubmittersRCV000812598RCV003882733
NM_021830.5(TWNK):c.1422G>C (p.Trp474Cys) SNV
Germline		 Chr10:100989822 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_111033574

2 SubmittersRCV000855769RCV002536207
NM_002693.3(POLG):c.2678C>T (p.Ser893Phe) SNV
Germline		 Chr15:89321181 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Criteria Provided
Single Submitter
 rs_1596352300

1 SubmittersRCV000855754
NM_004618.5(TOP3A):c.2317A>G (p.Asn773Asp) SNV
Germline		 Chr17:18278185 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly, growth restriction, and increased sister chromatid exchange 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
TOP3A-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_9911283

4 SubmittersRCV000889791RCV002501453RCV004550068RCV004962912
NM_002693.3(POLG):c.2981+2T>G SNV
Germline		 Chr15:89320764 Likely pathogenic Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_775260762

3 SubmittersRCV001065150RCV003514462
NM_021830.5(TWNK):c.672T>C (p.Ala224=) SNV
Germline		 Chr10:100988882 Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Autosomal recessive cerebellar ataxia
Condition: not provided
TWNK-related disorder		 Criteria Provided
Conflicting Classifications
 rs_368863664

4 SubmittersRCV001105818RCV001105817RCV001105819RCV001108045RCV002069743RCV004538327
NM_021830.5(TWNK):c.1572C>T (p.His524=) SNV
Germline		 Chr10:100990523 Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_774091248

2 SubmittersRCV001102927RCV001102926RCV001102928RCV001102929RCV003718320
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) SNV
Germline		 Chr10:100990873 Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Infantile onset spinocerebellar ataxia
Perrault syndrome 5
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_139124415

4 SubmittersRCV001105993RCV001105994RCV001105995RCV001105996RCV001839029RCV002555039
NM_021830.5(TWNK):c.1953G>A (p.Lys651=) SNV
Germline		 Chr10:100993408 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_771310512

2 SubmittersRCV001104946RCV001104944RCV001104947RCV001104945RCV003106115
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp) SNV
Germline		 Chr15:89319053 Conflicting classifications of pathogenicity POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
6 conditions
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_121918049

5 SubmittersRCV001121336RCV001856597RCV002466625RCV002491375RCV003322852
NM_015713.4(RRM2B):c.-101G>A SNV
Germline		 Chr8:102238975 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Conflicting Classifications
 rs_374844049

1 SubmittersRCV001160047RCV001161455
NM_021830.5(TWNK):c.649C>T (p.Arg217Ter) SNV
Germline		 Chr10:100988859 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Criteria Provided
Single Submitter
 rs_1382829987

1 SubmittersRCV001253009
NM_021830.5(TWNK):c.907C>T (p.Arg303Trp) SNV
Germline		 Chr10:100989117 Pathogenic/Likely pathogenic Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1159929268

4 SubmittersRCV001581548RCV004785286
NM_007215.4(POLG2):c.775C>T (p.Arg259Ter) SNV
Germline		 Chr17:64492687 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 16 (hepatic type)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_782006396

2 SubmittersRCV001839326RCV003560869
NM_015713.5(RRM2B):c.455+1G>A SNV
Germline		 Chr8:102224884 Likely pathogenic Condition: not provided
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2132555188

2 SubmittersRCV002049688RCV002498084
NM_002693.3(POLG):c.1457G>A (p.Trp486Ter) SNV
Germline		 Chr15:89327040 Pathogenic Progressive sclerosing poliodystrophy
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		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2055531147

2 SubmittersRCV001970028RCV003490974
NM_021830.5(TWNK):c.1433T>G (p.Phe478Cys) SNV
Germline		 Chr10:100989833 Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2133939892

2 SubmittersRCV002250853RCV003094071
NM_002693.3(POLG):c.2287G>A (p.Gly763Arg) SNV
Germline		 Chr15:89322881 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Criteria Provided
Single Submitter

1 SubmittersRCV002291441
NM_021830.5(TWNK):c.718C>T (p.Arg240Ter) SNV
Germline		 Chr10:100988928 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Criteria Provided
Single Submitter

1 SubmittersRCV003123518
NM_001033.5(RRM1):c.1142G>A (p.Arg381His) SNV
Germline		 Chr11:4123206 Conflicting classifications of pathogenicity RRM1-related disorder
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV003153041RCV003447337
NM_001033.5(RRM1):c.1141C>T (p.Arg381Cys) SNV
Germline		 Chr11:4123205 Pathogenic Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 No Assertion Criteria Provided

1 SubmittersRCV003447444
NM_015713.5(RRM2B):c.158G>A (p.Trp53Ter) SNV
Germline		 Chr8:102232195 Pathogenic Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
RRM2B-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003828936RCV004787061RCV004756549
NM_004618.5(TOP3A):c.614A>G (p.Asp205Gly) SNV
Germline		 Chr17:18302609 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 No Assertion Criteria Provided

1 SubmittersRCV003890773
NM_002693.3(POLG):c.2863T>C (p.Tyr955His) SNV
Germline		 Chr15:89320884 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 No Assertion Criteria Provided

1 SubmittersRCV004759350
NC_012920.1(MT-TI):m.4275G>A SNV
Germline		 ChrMT:4275 Pathogenic Progressive external ophthalmoplegia Criteria Provided
Single Submitter

1 SubmittersRCV005000558
NC_012920.1(MT-TY):m.5828G>A SNV
Germline		 ChrMT:5828 Pathogenic Progressive external ophthalmoplegia Criteria Provided
Single Submitter

1 SubmittersRCV005000560
NM_007215.4(POLG2):c.1110+2T>A SNV
Germline		 Chr17:64485726 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Criteria Provided
Single Submitter

1 SubmittersRCV004771736
NM_004618.5(TOP3A):c.865C>T (p.Arg289Ter) SNV
Germline		 Chr17:18301935 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
Microcephaly, growth restriction, and increased sister chromatid exchange 2		 Criteria Provided
Single Submitter

1 SubmittersRCV004797329
NM_021830.5(TWNK):c.1399C>T (p.Gln467Ter) SNV
Germline		 Chr10:100989799 Likely pathogenic Perrault syndrome 5
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		 Criteria Provided
Single Submitter

1 SubmittersRCV004797410