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 SubmittersRCV000004881 RCV000508874 RCV002512779
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 Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Perrault syndrome 5	Criteria Provided Single Submitter	CA116960	rs_111033574	2 SubmittersRCV000004882 RCV002496262
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 SubmittersRCV000004885 RCV000508905
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 SubmittersRCV000004886 RCV000508769 RCV001093424 RCV001542762 RCV002288465
NM_021830.5(TWNK):c.1106C>A (p.Ser369Tyr)	SNV Germline	Chr10:100989316	Pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	No Assertion Criteria Provided	CA116967	rs_111033579	1 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 SubmittersRCV000004888 RCV000020867
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 SubmittersRCV000004891 RCV001289123
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 SubmittersRCV000004892 RCV000523637
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	Criteria Provided Single Submitter	CA117371	rs_104894632	2 SubmittersRCV000005594 RCV003330384
NM_015713.5(RRM2B):c.979C>T (p.Arg327Ter)	SNV Germline	Chr8:102208210	Pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 Condition: not provided RRM2B-related mitochondrial disease	Criteria Provided Multiple Submitters No Conflicts	CA117487	rs_121918310	6 SubmittersRCV000005722 RCV000197531 RCV000119016
m.3251A>G	SNV Germline	ChrMT:3251	Pathogenic	Progressive external ophthalmoplegia, proximal myopathy, and sudden death Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Multiple Submitters No Conflicts	CA120565	rs_199474662	3 SubmittersRCV000010218 RCV000850691
NM_004614.5(TK2):c.323C>T (p.Thr108Met)	SNV Germline	Chr16:66531432	Pathogenic	Mitochondrial DNA depletion syndrome, myopathic form Condition: not provided Mitochondrial DNA depletion syndrome Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	Criteria Provided Multiple Submitters No Conflicts	CA324292	rs_137854431	13 SubmittersRCV000013547 RCV000199738 RCV003993743 RCV003883499
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 Progressive sclerosing poliodystrophy Condition: not provided Mitochondrial DNA depletion syndrome	Criteria Provided Multiple Submitters No Conflicts	CA341291	rs_113994099	10 SubmittersRCV000014439 RCV000508934 RCV000758267 RCV000676321 RCV003478975
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 Condition: not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 POLG-Related Spectrum Disorders 6 conditions Mitochondrial disease Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy POLG-related disorder Mitochondrial DNA depletion syndrome 4b Tip-toe gait Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Inborn genetic diseases Hereditary spastic paraplegia Neurodevelopmental delay	Criteria Provided Multiple Submitters No Conflicts	CA123140	rs_113994095	44 SubmittersRCV000014440 RCV000014441 RCV000014442 RCV000014443 RCV000188658 RCV000184011 RCV000347876 RCV000515354 RCV000508942 RCV001004604 RCV001095683 RCV001198082 RCV001376079 RCV001731286 RCV001813983 RCV002316195 RCV001847600 RCV002273931
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 Progressive sclerosing poliodystrophy 6 conditions Inborn genetic diseases Abnormality of the mitochondrion POLG-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256883	rs_121918044	17 SubmittersRCV000014444 RCV000188648 RCV000626287 RCV000762954 RCV001266602 RCV001813984 RCV003387722
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 POLG-Related Spectrum Disorders 6 conditions Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Mitochondrial disease Inborn genetic diseases 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 Hereditary spastic paraplegia POLG-related disorder Mitochondrial DNA depletion syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123144	rs_113994098	35 SubmittersRCV000014449 RCV000014450 RCV000014451 RCV000014452 RCV000188580 RCV000363602 RCV000515163 RCV000678386 RCV001027839 RCV002272018 RCV002313707 RCV002054437 RCV001847601 RCV003231103 RCV003230362
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	SNV Germline	Chr15:89330184	Conflicting classifications of pathogenicity	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4b 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 Hereditary spastic paraplegia POLG-related disorder Abnormality of the nervous system Inborn genetic diseases Mitochondrial disease Hypertrophic cardiomyopathy Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy See cases	Criteria Provided Conflicting Classifications	CA123142	rs_11394094	44 SubmittersRCV000014447 RCV000014448 RCV000020484 RCV000184009 RCV000188641 RCV000194055 RCV000262479 RCV000415105 RCV001004407 RCV001642225 RCV001678594 RCV001847602 RCV001813742 RCV001813985 RCV002313708 RCV002272019 RCV002319423 RCV003458331 RCV004584325
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 Global developmental delay Progressive sclerosing poliodystrophy 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 Abnormality of the nervous system Hypertrophic cardiomyopathy Hereditary spastic paraplegia Inborn genetic diseases Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy See cases	Criteria Provided Conflicting Classifications	CA123146	rs_113994096	47 SubmittersRCV000014456 RCV000020473 RCV000186576 RCV000193529 RCV000415307 RCV000408293 RCV000427845 RCV000508752 RCV001004602 RCV001610290 RCV001642226 RCV001813743 RCV001813986 RCV002319424 RCV001847603 RCV002313709 RCV003458332 RCV004584326
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	SNV Germline	Chr15:89323426	Pathogenic/Likely pathogenic	Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Spinocerebellar ataxia with epilepsy Condition: not provided POLG-Related Spectrum Disorders Mitochondrial disease not specified 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	36 SubmittersRCV000014461 RCV000014459 RCV000014460 RCV000080023 RCV000313739 RCV000508846 RCV000507757 RCV001198081 RCV002247336 RCV002313710 RCV003985719
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 SubmittersRCV000014462 RCV003460472
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 SubmittersRCV000014466 RCV000560575 RCV003333951 RCV001449754 RCV003330388
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 Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Hereditary spastic paraplegia Inborn genetic diseases Tip-toe gait POLG-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA201029	rs_121918054	30 SubmittersRCV000014467 RCV000188568 RCV000233045 RCV000370280 RCV000508744 RCV000768053 RCV001004601 RCV001813987 RCV001847605 RCV002316196 RCV003318542 RCV003985721
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 Myopia Progressive sensorineural hearing impairment Vertigo Left ventricular hypertrophy Condition: not provided Hypertrophic cardiomyopathy Abnormality of mitochondrial metabolism Inborn mitochondrial myopathy Mitochondrial respiratory chain defects Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	Criteria Provided Multiple Submitters No Conflicts	CA127988	rs_121912683	6 SubmittersRCV000019911 RCV000626767 RCV000626768 RCV000414338 RCV000626769 RCV001198599
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 SubmittersRCV001852642 RCV002496489
NM_004614.5(TK2):c.173A>G (p.Asn58Ser)	SNV Germline	Chr16:66541937	Pathogenic/Likely 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	CA343291	rs_138439950	3 SubmittersRCV000519291 RCV000762978
NM_004614.5(TK2):c.416C>T (p.Ala139Val)	SNV Germline	Chr16:66529027	Pathogenic/Likely pathogenic	Condition: not provided Mitochondrial DNA depletion syndrome Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 Mitochondrial DNA depletion syndrome, myopathic form TK2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA322107	rs_281865494	9 SubmittersRCV000197645 RCV000615451 RCV000762977 RCV003904881
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 SubmittersRCV000032251 RCV000239457 RCV001380377 RCV003230374
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 SubmittersRCV000239458 RCV001852646
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_007215.4(POLG2):c.1105A>G (p.Arg369Gly)	SNV Germline	Chr17:64485733	Conflicting classifications of pathogenicity	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Condition: not provided Hereditary spastic paraplegia POLG2-related disorder	Criteria Provided Conflicting Classifications	CA130800	rs_201936720	8 SubmittersRCV000033246 RCV000996597 RCV001847629 RCV004532480
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)	SNV Germline	Chr15:89326947	Conflicting classifications of pathogenicity	Mitochondrial disease Idiopathic camptocormia Condition: not provided Progressive sclerosing poliodystrophy not specified Tip-toe gait Inborn genetic diseases POLG-related disorder Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 POLG-Related Spectrum Disorders Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA204012	rs_61752783	24 SubmittersRCV000055881 RCV000186556 RCV000223970 RCV000229511 RCV000118011 RCV001352901 RCV002311532 RCV003985725 RCV000768289 RCV001117969 RCV001847644
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 Early-onset Parkinson disease 20 Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA231404	rs_150233690	17 SubmittersRCV000118016 RCV000234341 RCV000515366 RCV000678829 RCV000778452 RCV001847713 RCV002272131 RCV002243762 RCV002316314 RCV003330442
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 SubmittersRCV000118982 RCV000508788 RCV001089491 RCV001379488 RCV002498540
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 Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 Mitochondrial DNA depletion syndrome 8a	Criteria Provided Multiple Submitters No Conflicts	CA324021	rs_515726196	6 SubmittersRCV000119006 RCV000199478 RCV000659254 RCV002483200
NM_021830.5(TWNK):c.639C>T (p.Gly213=)	SNV Germline	Chr10:100988849	Conflicting classifications of pathogenicity	not specified Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Infantile onset spinocerebellar ataxia Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA302706	rs_11542130	8 SubmittersRCV000173516 RCV000359159 RCV000305599 RCV000395926 RCV000301625 RCV000676300 RCV001847741
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 SubmittersRCV000124046 RCV000314586 RCV000335702 RCV000369307 RCV000396649 RCV002055436
NM_002693.3(POLG):c.2601T>C (p.Pro867=)	SNV Germline	Chr15:89321258	Conflicting classifications of pathogenicity	not specified POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA292834	rs_201749977	6 SubmittersRCV000127526 RCV000403402 RCV000709782 RCV000734626 RCV001457683 RCV003985730
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 Condition: not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b Hereditary spastic paraplegia Mitochondrial DNA depletion syndrome 4b	Criteria Provided Conflicting Classifications	CA292847	rs_55779802	10 SubmittersRCV000127539 RCV000316461 RCV000559092 RCV000726414 RCV000768049 RCV001847754 RCV003441747
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 Autosomal recessive cerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Perrault syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA174962	rs_556445621	5 SubmittersRCV000149470 RCV000290037 RCV000305281 RCV000345001 RCV000403533 RCV002516006 RCV002516005
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)	SNV Germline	Chr15:89325562	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided Progressive sclerosing poliodystrophy 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 Mitochondrial DNA depletion syndrome 4b Global developmental delay Inborn genetic diseases POLG-related disorder	Criteria Provided Conflicting Classifications	CA302712	rs_147407423	14 SubmittersRCV000173762 RCV000538134 RCV000710183 RCV000768055 RCV001263354 RCV002313026 RCV003985737
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)	SNV Germline	Chr15:89320890	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 POLG-Related Spectrum Disorders	Criteria Provided Conflicting Classifications	CA241026	rs_11546842	9 SubmittersRCV000175301 RCV000758266 RCV001808449 RCV003323426
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 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 Mitochondrial DNA depletion syndrome 4b POLG-Related Spectrum Disorders Hereditary spastic paraplegia Tip-toe gait Inborn genetic diseases Charcot-Marie-Tooth disease axonal type 2U	Criteria Provided Conflicting Classifications	CA202319	rs_61752784	20 SubmittersRCV000177165 RCV000233823 RCV000415771 RCV000709833 RCV000768291 RCV001121511 RCV001847817 RCV002227084 RCV002312719 RCV002516726
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 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Spinocerebellar ataxia with epilepsy not specified	Criteria Provided Conflicting Classifications	CA316740	rs_181860632	15 SubmittersRCV000188603 RCV000633548 RCV001808470 RCV002247605 RCV002317146 RCV003483565 RCV003987434
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	Criteria Provided Conflicting Classifications	CA316596	rs_551708243	10 SubmittersRCV000551001 RCV000710186 RCV000765239 RCV001121338 RCV001332169
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)	SNV Germline	Chr15:89320857	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Progressive sclerosing poliodystrophy Spinocerebellar atrophy Mitochondrial DNA depletion syndrome 4b Hereditary spastic paraplegia not specified POLG-Related Spectrum Disorders Inborn genetic diseases Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Conflicting Classifications	CA316719	rs_201477273	18 SubmittersRCV000188591 RCV000490261 RCV000633558 RCV000984890 RCV001808469 RCV001847830 RCV002247604 RCV002282023 RCV002317145 RCV003232987 RCV003992217
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 SubmittersRCV000188583 RCV000758451 RCV003137764 RCV003330554
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)	SNV Germline	Chr15:89324156	Conflicting classifications of pathogenicity	not specified 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 Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders Condition: not provided Inborn genetic diseases POLG-related disorder	Criteria Provided Conflicting Classifications	CA316585	rs_200257554	9 SubmittersRCV000188510 RCV000633561 RCV000768054 RCV001121414 RCV001721213 RCV002317140 RCV003985742
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 SubmittersRCV000188671 RCV000702972 RCV002288793
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 not specified Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA316846	rs_367610201	6 SubmittersRCV000188667 RCV001348402 RCV001814096 RCV003226244 RCV001847837
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 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 Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders Seizure Intellectual disability 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	Criteria Provided Conflicting Classifications	CA316834	rs_145843073	22 SubmittersRCV000470781 RCV000658725 RCV000678827 RCV000763995 RCV001004603 RCV001027840 RCV001117972 RCV001263305 RCV001330959 RCV001610504 RCV001847836 RCV002314743 RCV003230444
NM_002693.3(POLG):c.915C>G (p.Ser305Arg)	SNV Germline	Chr15:89329051	Pathogenic/Likely pathogenic	Condition: not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA316819	rs_769410130	7 SubmittersRCV000188649 RCV000995844 RCV000758271 RCV001332170 RCV002372152
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 SubmittersRCV000188646 RCV000768290 RCV000806434
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	Criteria Provided Conflicting Classifications	CA316806	rs_147282197	16 SubmittersRCV000633538 RCV000678826 RCV000710188 RCV001121513 RCV001263148 RCV001808471 RCV002362986 RCV003317141
NM_002693.3(POLG):c.328C>T (p.His110Tyr)	SNV Germline	Chr15:89333427	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided 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 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA316877	rs_139599587	9 SubmittersRCV000461638 RCV000727081 RCV000768048 RCV001804925 RCV002317148
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)	SNV Germline	Chr2:73938978	Conflicting classifications of pathogenicity	Inborn genetic diseases not specified Condition: not provided Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 Portal hypertension, noncirrhotic, 1 DGUOK-related disorder	Criteria Provided Conflicting Classifications	CA204823	rs_184770596	8 SubmittersRCV000190772 RCV000482950 RCV000727394 RCV000779334 RCV002500582 RCV003955135
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)	SNV Germline	Chr2:73950603	Conflicting classifications of pathogenicity	Condition: not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 Inborn genetic diseases Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) DGUOK-related disorder	Criteria Provided Conflicting Classifications	CA320135	rs_144181978	9 SubmittersRCV000195764 RCV000239593 RCV002517206 RCV003235120 RCV003895259
NM_080916.3(DGUOK):c.591G>A (p.Gln197=)	SNV Germline	Chr2:73950732	Pathogenic	Condition: not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) Portal hypertension, noncirrhotic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) DGUOK-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA322101	rs_748597500	6 SubmittersRCV000197640 RCV000763090 RCV003333049 RCV004528983
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 SubmittersRCV000199003 RCV001164963 RCV001164964 RCV002517256
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)	SNV Germline	Chr10:100989406	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 Perrault syndrome	Criteria Provided Conflicting Classifications	CA324207	rs_863223921	5 SubmittersRCV000578276 RCV001105894 RCV001105893 RCV001105895 RCV001722090 RCV002515383
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)	SNV Germline	Chr10:100990973	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 TWNK-related disorder	Criteria Provided Conflicting Classifications	CA323752	rs_116046810	4 SubmittersRCV000199218 RCV000300073 RCV000284653 RCV000339690 RCV000402465 RCV000909034 RCV004530166
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 Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Condition: not provided Infantile onset spinocerebellar ataxia Perrault syndrome 5 Perrault syndrome 5	Criteria Provided Conflicting Classifications	CA324977	rs_370814108	5 SubmittersRCV000267823 RCV000322888 RCV000326494 RCV000381173 RCV000712523 RCV001838991 RCV004558440
NM_021830.5(TWNK):c.2045G>A (p.Arg682His)	SNV Germline	Chr10:100993500	Conflicting classifications of pathogenicity	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive cerebellar ataxia Infantile onset spinocerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Condition: not provided Hereditary spastic paraplegia TWNK-related disorder	Criteria Provided Conflicting Classifications	CA323951	rs_182559752	6 SubmittersRCV000283282 RCV000374204 RCV000377740 RCV000338208 RCV000871398 RCV001847877 RCV004530167
NM_007215.4(POLG2):c.181G>A (p.Gly61Arg)	SNV Germline	Chr17:64496788	Conflicting classifications of pathogenicity	Condition: not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	Criteria Provided Conflicting Classifications	CA325221	rs_144148008	4 SubmittersRCV001092729 RCV001128514
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp)	SNV Germline	Chr10:100989114	Conflicting classifications of pathogenicity	Infantile onset spinocerebellar ataxia Condition: not provided not specified Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	Criteria Provided Conflicting Classifications	CA5653134	rs_374997012	7 SubmittersRCV000239858 RCV001762457 RCV003317155 RCV003989505
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 SubmittersRCV000258005 RCV000432548 RCV000824678 RCV002290967
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 Portal hypertension, noncirrhotic, 1 Condition: not provided Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Criteria Provided Multiple Submitters No Conflicts	CA1718151	rs_763615602	4 SubmittersRCV000239535 RCV000239586 RCV001799645 RCV001550857 RCV001824706
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 SubmittersRCV000239555 RCV001782737
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 SubmittersRCV000239560 RCV000478803
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	7 SubmittersRCV000278667 RCV000312773 RCV000352301 RCV000406261 RCV001336025 RCV001722382 RCV001848044 RCV004021053
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 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Hereditary spastic paraplegia Infantile onset spinocerebellar ataxia Autosomal recessive cerebellar ataxia	Criteria Provided Conflicting Classifications	CA5653043	rs_145068570	6 SubmittersRCV000320273 RCV001107964 RCV001102728 RCV001848043 RCV001107963 RCV001107965
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)	SNV Germline	Chr15:89322749	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 neonatal seizures Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	Criteria Provided Conflicting Classifications	CA7724495	rs_769827124	8 SubmittersRCV000261805 RCV000547242 RCV000626194 RCV000678828 RCV001263147
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 SubmittersRCV000294722 RCV000336672 RCV000347919 RCV000351895 RCV000386725 RCV001848047
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 SubmittersRCV000334374 RCV003660789
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 SubmittersRCV000300250 RCV000357451
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 SubmittersRCV000278088 RCV000342400 RCV000424236
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 SubmittersRCV000289425 RCV000381514
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 SubmittersRCV000355046 RCV000406402
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 SubmittersRCV000278960 RCV000336415 RCV000351651 RCV000403866 RCV002292507
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	8 SubmittersRCV000273839 RCV000296339 RCV000331424 RCV000388304 RCV000994494 RCV004021460
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 SubmittersRCV000301666 RCV000356457 RCV000359896 RCV000395193 RCV003105861 RCV004544498
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 SubmittersRCV000303281 RCV000392494 RCV003766074
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 SubmittersRCV000269016 RCV000314816 RCV003766075
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 Mitochondrial DNA depletion syndrome 8a Condition: not provided	Criteria Provided Conflicting Classifications	CA4831078	rs_200301242	3 SubmittersRCV000275167 RCV000369842 RCV000963226
NM_015713.5(RRM2B):c.790-9T>C	SNV Germline	Chr8:102212898	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	CA4830991	rs_573435546	2 SubmittersRCV000308909 RCV000363537 RCV002523609
NM_021830.5(TWNK):c.-290G>C	SNV Germline	Chr10:100987921	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	Criteria Provided Conflicting Classifications	CA10630756	rs_62626270	1 SubmittersRCV000260000 RCV000317524 RCV000374562 RCV000370858
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 SubmittersRCV000261655 RCV000316885 RCV000320279 RCV000356361
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 SubmittersRCV000311980 RCV000350458 RCV000398995 RCV000406517 RCV001515622
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 SubmittersRCV000279300 RCV000336716 RCV000395922 RCV000405350 RCV002262948
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 Infantile onset spinocerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Condition: not provided	Criteria Provided Conflicting Classifications	CA5653139	rs_754389465	2 SubmittersRCV000270402 RCV000327796 RCV000366062 RCV000362650 RCV000872826
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 Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA5653164	rs_200798080	3 SubmittersRCV000281131 RCV000316283 RCV000338588 RCV000373330 RCV001848070 RCV002059511
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 SubmittersRCV000308919 RCV000348968 RCV000363555 RCV000404345 RCV001582924 RCV001848071
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 SubmittersRCV000289702 RCV000293240 RCV000348190 RCV000390735
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 not specified Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA8712956	rs_148101254	5 SubmittersRCV000335486 RCV000421922 RCV000441311 RCV001848667
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	4 SubmittersRCV000314651 RCV001775769 RCV004021710
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 SubmittersRCV000412621 RCV001566031
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 SubmittersRCV000412498 RCV002523895
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 Infantile onset spinocerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Autosomal recessive cerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Hereditary spastic paraplegia not specified TWNK-related disorder	Criteria Provided Conflicting Classifications	CA5653294	rs_144001072	7 SubmittersRCV000726623 RCV001106000 RCV001105997 RCV001105998 RCV001105999 RCV001848766 RCV003993959 RCV004533016
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 SubmittersRCV000426134 RCV001126453 RCV002062693
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 SubmittersRCV000497430 RCV000508711 RCV001332412
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 SubmittersRCV000489778 RCV001107307 RCV001107308 RCV001107309 RCV001107306
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 SubmittersRCV000627803 RCV000678503
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 SubmittersRCV000627802 RCV000678502
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 SubmittersRCV000579319 RCV000778909
NM_021830.5(TWNK):c.1244-14C>T	SNV Germline	Chr10:100989630	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 not specified	Criteria Provided Conflicting Classifications	CA5653201	rs_758757135	2 SubmittersRCV001108144 RCV001108145 RCV001108146 RCV001108147 RCV000616455
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 SubmittersRCV000779014 RCV001102837 RCV001102838 RCV001102839 RCV003222127
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 SubmittersRCV000787955 RCV003362937
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 SubmittersRCV000812598 RCV003882733
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 SubmittersRCV000855769 RCV002536207
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_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 SubmittersRCV001065150 RCV003514462
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 SubmittersRCV001105818 RCV001105817 RCV001105819 RCV001108045 RCV002069743 RCV004538327
NM_021830.5(TWNK):c.1572C>T (p.His524=)	SNV Germline	Chr10:100990523	Conflicting classifications of pathogenicity	Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Infantile onset spinocerebellar ataxia Condition: not provided	Criteria Provided Conflicting Classifications		rs_774091248	2 SubmittersRCV001102926 RCV001102928 RCV001102929 RCV001102927 RCV003718320
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	3 SubmittersRCV001105993 RCV001105994 RCV001105995 RCV001105996 RCV001839029 RCV002555039
NM_021830.5(TWNK):c.1953G>A (p.Lys651=)	SNV Germline	Chr10:100993408	Conflicting classifications of pathogenicity	Autosomal recessive cerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Infantile onset spinocerebellar ataxia Condition: not provided	Criteria Provided Conflicting Classifications		rs_771310512	2 SubmittersRCV001104944 RCV001104945 RCV001104946 RCV001104947 RCV003106115
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 SubmittersRCV001121336 RCV001856597 RCV002466625 RCV002491375 RCV003322852
NM_015713.4(RRM2B):c.-101G>A	SNV Germline	Chr8:102238975	Conflicting classifications of pathogenicity	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 Mitochondrial DNA depletion syndrome 8a	Criteria Provided Conflicting Classifications		rs_374844049	1 SubmittersRCV001161455 RCV001160047
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_007215.4(POLG2):c.775C>T (p.Arg259Ter)	SNV Germline	Chr17:64492687	Conflicting classifications of pathogenicity	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Mitochondrial DNA depletion syndrome 16 (hepatic type) Condition: not provided	Criteria Provided Conflicting Classifications		rs_782006396	2 SubmittersRCV001839326 RCV003560869
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 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 Mitochondrial DNA depletion syndrome 8a	Criteria Provided Multiple Submitters No Conflicts		rs_2132555188	2 SubmittersRCV002049688 RCV002498084
NM_002693.3(POLG):c.1457G>A (p.Trp486Ter)	SNV Germline	Chr15:89327040	Pathogenic	Progressive sclerosing poliodystrophy 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	Criteria Provided Multiple Submitters No Conflicts		rs_2055531147	2 SubmittersRCV001970028 RCV003490974
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 SubmittersRCV002250853 RCV003094071
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.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_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_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 SubmittersRCV000004881 RCV000508874 RCV002512779

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
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Perrault syndrome 5

Criteria Provided
Single Submitter

CA116960

rs_111033574

2 SubmittersRCV000004882 RCV002496262

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 SubmittersRCV000004885 RCV000508905

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 SubmittersRCV000004886 RCV000508769 RCV001093424 RCV001542762 RCV002288465

NM_021830.5(TWNK):c.1106C>A (p.Ser369Tyr)

SNV
Germline

Chr10:100989316

Pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

No Assertion Criteria Provided

CA116967

rs_111033579

1 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 SubmittersRCV000004888 RCV000020867

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 SubmittersRCV000004891 RCV001289123

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 SubmittersRCV000004892 RCV000523637

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

Criteria Provided
Single Submitter

CA117371

rs_104894632

2 SubmittersRCV000005594 RCV003330384

NM_015713.5(RRM2B):c.979C>T (p.Arg327Ter)

SNV
Germline

Chr8:102208210

Pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Condition: not provided
RRM2B-related mitochondrial disease

Criteria Provided
Multiple Submitters
No Conflicts

CA117487

rs_121918310

6 SubmittersRCV000005722 RCV000197531 RCV000119016

m.3251A>G

SNV
Germline

ChrMT:3251

Pathogenic

Progressive external ophthalmoplegia, proximal myopathy, and sudden death
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Multiple Submitters
No Conflicts

CA120565

rs_199474662

3 SubmittersRCV000010218 RCV000850691

NM_004614.5(TK2):c.323C>T (p.Thr108Met)

SNV
Germline

Chr16:66531432

Pathogenic

Mitochondrial DNA depletion syndrome, myopathic form
Condition: not provided
Mitochondrial DNA depletion syndrome
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3

Criteria Provided
Multiple Submitters
No Conflicts

CA324292

rs_137854431

13 SubmittersRCV000013547 RCV000199738 RCV003993743 RCV003883499

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
Progressive sclerosing poliodystrophy
Condition: not provided
Mitochondrial DNA depletion syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA341291

rs_113994099

10 SubmittersRCV000014439 RCV000508934 RCV000758267 RCV000676321 RCV003478975

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
Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
POLG-Related Spectrum Disorders
6 conditions
Mitochondrial disease
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
POLG-related disorder
Mitochondrial DNA depletion syndrome 4b
Tip-toe gait
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Inborn genetic diseases
Hereditary spastic paraplegia
Neurodevelopmental delay

Criteria Provided
Multiple Submitters
No Conflicts

CA123140

rs_113994095

44 SubmittersRCV000014440 RCV000014441 RCV000014442 RCV000014443 RCV000188658 RCV000184011 RCV000347876 RCV000515354 RCV000508942 RCV001004604 RCV001095683 RCV001198082 RCV001376079 RCV001731286 RCV001813983 RCV002316195 RCV001847600 RCV002273931

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
Progressive sclerosing poliodystrophy
6 conditions
Inborn genetic diseases
Abnormality of the mitochondrion
POLG-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256883

rs_121918044

17 SubmittersRCV000014444 RCV000188648 RCV000626287 RCV000762954 RCV001266602 RCV001813984 RCV003387722

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
POLG-Related Spectrum Disorders
6 conditions
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Mitochondrial disease
Inborn genetic diseases
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
Hereditary spastic paraplegia
POLG-related disorder
Mitochondrial DNA depletion syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA123144

rs_113994098

35 SubmittersRCV000014449 RCV000014450 RCV000014451 RCV000014452 RCV000188580 RCV000363602 RCV000515163 RCV000678386 RCV001027839 RCV002272018 RCV002313707 RCV002054437 RCV001847601 RCV003231103 RCV003230362

NM_002693.3(POLG):c.752C>T (p.Thr251Ile)

SNV
Germline

Chr15:89330184

Conflicting classifications of pathogenicity

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
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
Hereditary spastic paraplegia
POLG-related disorder
Abnormality of the nervous system
Inborn genetic diseases
Mitochondrial disease
Hypertrophic cardiomyopathy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
See cases

Criteria Provided
Conflicting Classifications

CA123142

rs_11394094

44 SubmittersRCV000014447 RCV000014448 RCV000020484 RCV000184009 RCV000188641 RCV000194055 RCV000262479 RCV000415105 RCV001004407 RCV001642225 RCV001678594 RCV001847602 RCV001813742 RCV001813985 RCV002313708 RCV002272019 RCV002319423 RCV003458331 RCV004584325

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
Global developmental delay
Progressive sclerosing poliodystrophy
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
Abnormality of the nervous system
Hypertrophic cardiomyopathy
Hereditary spastic paraplegia
Inborn genetic diseases
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
See cases

Criteria Provided
Conflicting Classifications

CA123146

rs_113994096

47 SubmittersRCV000014456 RCV000020473 RCV000186576 RCV000193529 RCV000415307 RCV000408293 RCV000427845 RCV000508752 RCV001004602 RCV001610290 RCV001642226 RCV001813743 RCV001813986 RCV002319424 RCV001847603 RCV002313709 RCV003458332 RCV004584326

NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)

SNV
Germline

Chr15:89323426

Pathogenic/Likely pathogenic

Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Spinocerebellar ataxia with epilepsy
Condition: not provided
POLG-Related Spectrum Disorders
Mitochondrial disease
not specified
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

36 SubmittersRCV000014461 RCV000014459 RCV000014460 RCV000080023 RCV000313739 RCV000508846 RCV000507757 RCV001198081 RCV002247336 RCV002313710 RCV003985719

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 SubmittersRCV000014462 RCV003460472

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 SubmittersRCV000014466 RCV000560575 RCV003333951 RCV001449754 RCV003330388

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
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Hereditary spastic paraplegia
Inborn genetic diseases
Tip-toe gait
POLG-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA201029

rs_121918054

30 SubmittersRCV000014467 RCV000188568 RCV000233045 RCV000370280 RCV000508744 RCV000768053 RCV001004601 RCV001813987 RCV001847605 RCV002316196 RCV003318542 RCV003985721

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
Myopia
Progressive sensorineural hearing impairment
Vertigo
Left ventricular hypertrophy
Condition: not provided
Hypertrophic cardiomyopathy
Abnormality of mitochondrial metabolism
Inborn mitochondrial myopathy
Mitochondrial respiratory chain defects
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

Criteria Provided
Multiple Submitters
No Conflicts

CA127988

rs_121912683

6 SubmittersRCV000019911 RCV000626767 RCV000626768 RCV000414338 RCV000626769 RCV001198599

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 SubmittersRCV001852642 RCV002496489

NM_004614.5(TK2):c.173A>G (p.Asn58Ser)

SNV
Germline

Chr16:66541937

Pathogenic/Likely 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

CA343291

rs_138439950

3 SubmittersRCV000519291 RCV000762978

NM_004614.5(TK2):c.416C>T (p.Ala139Val)

SNV
Germline

Chr16:66529027

Pathogenic/Likely pathogenic

Condition: not provided
Mitochondrial DNA depletion syndrome
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Mitochondrial DNA depletion syndrome, myopathic form
TK2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA322107

rs_281865494

9 SubmittersRCV000197645 RCV000615451 RCV000762977 RCV003904881

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 SubmittersRCV000032251 RCV000239457 RCV001380377 RCV003230374

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 SubmittersRCV000239458 RCV001852646

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_007215.4(POLG2):c.1105A>G (p.Arg369Gly)

SNV
Germline

Chr17:64485733

Conflicting classifications of pathogenicity

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Condition: not provided
Hereditary spastic paraplegia
POLG2-related disorder

Criteria Provided
Conflicting Classifications

CA130800

rs_201936720

8 SubmittersRCV000033246 RCV000996597 RCV001847629 RCV004532480

NM_002693.3(POLG):c.1550G>T (p.Gly517Val)

SNV
Germline

Chr15:89326947

Conflicting classifications of pathogenicity

Mitochondrial disease
Idiopathic camptocormia
Condition: not provided
Progressive sclerosing poliodystrophy
not specified
Tip-toe gait
Inborn genetic diseases
POLG-related disorder
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
POLG-Related Spectrum Disorders
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA204012

rs_61752783

24 SubmittersRCV000055881 RCV000186556 RCV000223970 RCV000229511 RCV000118011 RCV001352901 RCV002311532 RCV003985725 RCV000768289 RCV001117969 RCV001847644

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
Early-onset Parkinson disease 20
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA231404

rs_150233690

17 SubmittersRCV000118016 RCV000234341 RCV000515366 RCV000678829 RCV000778452 RCV001847713 RCV002272131 RCV002243762 RCV002316314 RCV003330442

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 SubmittersRCV000118982 RCV000508788 RCV001089491 RCV001379488 RCV002498540

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
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a

Criteria Provided
Multiple Submitters
No Conflicts

CA324021

rs_515726196

6 SubmittersRCV000119006 RCV000199478 RCV000659254 RCV002483200

NM_021830.5(TWNK):c.639C>T (p.Gly213=)

SNV
Germline

Chr10:100988849

Conflicting classifications of pathogenicity

not specified
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA302706

rs_11542130

8 SubmittersRCV000173516 RCV000359159 RCV000305599 RCV000395926 RCV000301625 RCV000676300 RCV001847741

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 SubmittersRCV000124046 RCV000314586 RCV000335702 RCV000369307 RCV000396649 RCV002055436

NM_002693.3(POLG):c.2601T>C (p.Pro867=)

SNV
Germline

Chr15:89321258

Conflicting classifications of pathogenicity

not specified
POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA292834

rs_201749977

6 SubmittersRCV000127526 RCV000403402 RCV000709782 RCV000734626 RCV001457683 RCV003985730

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
Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Hereditary spastic paraplegia
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Conflicting Classifications

CA292847

rs_55779802

10 SubmittersRCV000127539 RCV000316461 RCV000559092 RCV000726414 RCV000768049 RCV001847754 RCV003441747

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
Autosomal recessive cerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Perrault syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA174962

rs_556445621

5 SubmittersRCV000149470 RCV000290037 RCV000305281 RCV000345001 RCV000403533 RCV002516006 RCV002516005

NM_002693.3(POLG):c.1837C>T (p.His613Tyr)

SNV
Germline

Chr15:89325562

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
Progressive sclerosing poliodystrophy
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
Mitochondrial DNA depletion syndrome 4b
Global developmental delay
Inborn genetic diseases
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA302712

rs_147407423

14 SubmittersRCV000173762 RCV000538134 RCV000710183 RCV000768055 RCV001263354 RCV002313026 RCV003985737

NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)

SNV
Germline

Chr15:89320890

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
POLG-Related Spectrum Disorders

Criteria Provided
Conflicting Classifications

CA241026

rs_11546842

9 SubmittersRCV000175301 RCV000758266 RCV001808449 RCV003323426

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
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
Mitochondrial DNA depletion syndrome 4b
POLG-Related Spectrum Disorders
Hereditary spastic paraplegia
Tip-toe gait
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2U

Criteria Provided
Conflicting Classifications

CA202319

rs_61752784

20 SubmittersRCV000177165 RCV000233823 RCV000415771 RCV000709833 RCV000768291 RCV001121511 RCV001847817 RCV002227084 RCV002312719 RCV002516726

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
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Spinocerebellar ataxia with epilepsy
not specified

Criteria Provided
Conflicting Classifications

CA316740

rs_181860632

15 SubmittersRCV000188603 RCV000633548 RCV001808470 RCV002247605 RCV002317146 RCV003483565 RCV003987434

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

Criteria Provided
Conflicting Classifications

CA316596

rs_551708243

10 SubmittersRCV000551001 RCV000710186 RCV000765239 RCV001121338 RCV001332169

NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)

SNV
Germline

Chr15:89320857

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Progressive sclerosing poliodystrophy
Spinocerebellar atrophy
Mitochondrial DNA depletion syndrome 4b
Hereditary spastic paraplegia
not specified
POLG-Related Spectrum Disorders
Inborn genetic diseases
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Conflicting Classifications

CA316719

rs_201477273

18 SubmittersRCV000188591 RCV000490261 RCV000633558 RCV000984890 RCV001808469 RCV001847830 RCV002247604 RCV002282023 RCV002317145 RCV003232987 RCV003992217

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 SubmittersRCV000188583 RCV000758451 RCV003137764 RCV003330554

NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)

SNV
Germline

Chr15:89324156

Conflicting classifications of pathogenicity

not specified
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
Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders
Condition: not provided
Inborn genetic diseases
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA316585

rs_200257554

9 SubmittersRCV000188510 RCV000633561 RCV000768054 RCV001121414 RCV001721213 RCV002317140 RCV003985742

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 SubmittersRCV000188671 RCV000702972 RCV002288793

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
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA316846

rs_367610201

6 SubmittersRCV000188667 RCV001348402 RCV001814096 RCV003226244 RCV001847837

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
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
Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders
Seizure
Intellectual disability
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

Criteria Provided
Conflicting Classifications

CA316834

rs_145843073

22 SubmittersRCV000470781 RCV000658725 RCV000678827 RCV000763995 RCV001004603 RCV001027840 RCV001117972 RCV001263305 RCV001330959 RCV001610504 RCV001847836 RCV002314743 RCV003230444

NM_002693.3(POLG):c.915C>G (p.Ser305Arg)

SNV
Germline

Chr15:89329051

Pathogenic/Likely pathogenic

Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA316819

rs_769410130

7 SubmittersRCV000188649 RCV000995844 RCV000758271 RCV001332170 RCV002372152

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 SubmittersRCV000188646 RCV000768290 RCV000806434

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

Criteria Provided
Conflicting Classifications

CA316806

rs_147282197

16 SubmittersRCV000633538 RCV000678826 RCV000710188 RCV001121513 RCV001263148 RCV001808471 RCV002362986 RCV003317141

NM_002693.3(POLG):c.328C>T (p.His110Tyr)

SNV
Germline

Chr15:89333427

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
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
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA316877

rs_139599587

9 SubmittersRCV000461638 RCV000727081 RCV000768048 RCV001804925 RCV002317148

NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)

SNV
Germline

Chr2:73938978

Conflicting classifications of pathogenicity

Inborn genetic diseases
not specified
Condition: not provided
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Portal hypertension, noncirrhotic, 1
DGUOK-related disorder

Criteria Provided
Conflicting Classifications

CA204823

rs_184770596

8 SubmittersRCV000190772 RCV000482950 RCV000727394 RCV000779334 RCV002500582 RCV003955135

NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)

SNV
Germline

Chr2:73950603

Conflicting classifications of pathogenicity

Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Inborn genetic diseases
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
DGUOK-related disorder

Criteria Provided
Conflicting Classifications

CA320135

rs_144181978

9 SubmittersRCV000195764 RCV000239593 RCV002517206 RCV003235120 RCV003895259

NM_080916.3(DGUOK):c.591G>A (p.Gln197=)

SNV
Germline

Chr2:73950732

Pathogenic

Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Portal hypertension, noncirrhotic
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
DGUOK-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA322101

rs_748597500

6 SubmittersRCV000197640 RCV000763090 RCV003333049 RCV004528983

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 SubmittersRCV000199003 RCV001164963 RCV001164964 RCV002517256

NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)

SNV
Germline

Chr10:100989406

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
Perrault syndrome

Criteria Provided
Conflicting Classifications

CA324207

rs_863223921

5 SubmittersRCV000578276 RCV001105894 RCV001105893 RCV001105895 RCV001722090 RCV002515383

NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)

SNV
Germline

Chr10:100990973

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
TWNK-related disorder

Criteria Provided
Conflicting Classifications

CA323752

rs_116046810

4 SubmittersRCV000199218 RCV000300073 RCV000284653 RCV000339690 RCV000402465 RCV000909034 RCV004530166

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
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Condition: not provided
Infantile onset spinocerebellar ataxia
Perrault syndrome 5
Perrault syndrome 5

Criteria Provided
Conflicting Classifications

CA324977

rs_370814108

5 SubmittersRCV000267823 RCV000322888 RCV000326494 RCV000381173 RCV000712523 RCV001838991 RCV004558440

NM_021830.5(TWNK):c.2045G>A (p.Arg682His)

SNV
Germline

Chr10:100993500

Conflicting classifications of pathogenicity

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Autosomal recessive cerebellar ataxia
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Condition: not provided
Hereditary spastic paraplegia
TWNK-related disorder

Criteria Provided
Conflicting Classifications

CA323951

rs_182559752

6 SubmittersRCV000283282 RCV000374204 RCV000377740 RCV000338208 RCV000871398 RCV001847877 RCV004530167

NM_007215.4(POLG2):c.181G>A (p.Gly61Arg)

SNV
Germline

Chr17:64496788

Conflicting classifications of pathogenicity

Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA325221

rs_144148008

4 SubmittersRCV001092729 RCV001128514

NM_021830.5(TWNK):c.904C>T (p.Arg302Trp)

SNV
Germline

Chr10:100989114

Conflicting classifications of pathogenicity

Infantile onset spinocerebellar ataxia
Condition: not provided
not specified
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

Criteria Provided
Conflicting Classifications

CA5653134

rs_374997012

7 SubmittersRCV000239858 RCV001762457 RCV003317155 RCV003989505

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 SubmittersRCV000258005 RCV000432548 RCV000824678 RCV002290967

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
Portal hypertension, noncirrhotic, 1
Condition: not provided
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

Criteria Provided
Multiple Submitters
No Conflicts

CA1718151

rs_763615602

4 SubmittersRCV000239535 RCV000239586 RCV001799645 RCV001550857 RCV001824706

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 SubmittersRCV000239555 RCV001782737

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 SubmittersRCV000239560 RCV000478803

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

7 SubmittersRCV000278667 RCV000312773 RCV000352301 RCV000406261 RCV001336025 RCV001722382 RCV001848044 RCV004021053

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
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Hereditary spastic paraplegia
Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia

Criteria Provided
Conflicting Classifications

CA5653043

rs_145068570

6 SubmittersRCV000320273 RCV001107964 RCV001102728 RCV001848043 RCV001107963 RCV001107965

NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)

SNV
Germline

Chr15:89322749

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
neonatal seizures
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Criteria Provided
Conflicting Classifications

CA7724495

rs_769827124

8 SubmittersRCV000261805 RCV000547242 RCV000626194 RCV000678828 RCV001263147

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 SubmittersRCV000294722 RCV000336672 RCV000347919 RCV000351895 RCV000386725 RCV001848047

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 SubmittersRCV000334374 RCV003660789

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 SubmittersRCV000300250 RCV000357451

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 SubmittersRCV000278088 RCV000342400 RCV000424236

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 SubmittersRCV000289425 RCV000381514

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 SubmittersRCV000355046 RCV000406402

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 SubmittersRCV000278960 RCV000336415 RCV000351651 RCV000403866 RCV002292507

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

8 SubmittersRCV000273839 RCV000296339 RCV000331424 RCV000388304 RCV000994494 RCV004021460

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 SubmittersRCV000301666 RCV000356457 RCV000359896 RCV000395193 RCV003105861 RCV004544498

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 SubmittersRCV000303281 RCV000392494 RCV003766074

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 SubmittersRCV000269016 RCV000314816 RCV003766075

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
Mitochondrial DNA depletion syndrome 8a
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4831078

rs_200301242

3 SubmittersRCV000275167 RCV000369842 RCV000963226

NM_015713.5(RRM2B):c.790-9T>C

SNV
Germline

Chr8:102212898

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

CA4830991

rs_573435546

2 SubmittersRCV000308909 RCV000363537 RCV002523609

NM_021830.5(TWNK):c.-290G>C

SNV
Germline

Chr10:100987921

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

Criteria Provided
Conflicting Classifications

CA10630756

rs_62626270

1 SubmittersRCV000260000 RCV000317524 RCV000374562 RCV000370858

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 SubmittersRCV000261655 RCV000316885 RCV000320279 RCV000356361

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 SubmittersRCV000311980 RCV000350458 RCV000398995 RCV000406517 RCV001515622

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 SubmittersRCV000279300 RCV000336716 RCV000395922 RCV000405350 RCV002262948

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
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5653139

rs_754389465

2 SubmittersRCV000270402 RCV000327796 RCV000366062 RCV000362650 RCV000872826

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
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5653164

rs_200798080

3 SubmittersRCV000281131 RCV000316283 RCV000338588 RCV000373330 RCV001848070 RCV002059511

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 SubmittersRCV000308919 RCV000348968 RCV000363555 RCV000404345 RCV001582924 RCV001848071

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 SubmittersRCV000289702 RCV000293240 RCV000348190 RCV000390735

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
not specified
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8712956

rs_148101254

5 SubmittersRCV000335486 RCV000421922 RCV000441311 RCV001848667

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

4 SubmittersRCV000314651 RCV001775769 RCV004021710

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 SubmittersRCV000412621 RCV001566031

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 SubmittersRCV000412498 RCV002523895

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
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Hereditary spastic paraplegia
not specified
TWNK-related disorder

Criteria Provided
Conflicting Classifications

CA5653294

rs_144001072

7 SubmittersRCV000726623 RCV001106000 RCV001105997 RCV001105998 RCV001105999 RCV001848766 RCV003993959 RCV004533016

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 SubmittersRCV000426134 RCV001126453 RCV002062693

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 SubmittersRCV000497430 RCV000508711 RCV001332412

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 SubmittersRCV000489778 RCV001107307 RCV001107308 RCV001107309 RCV001107306

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 SubmittersRCV000627803 RCV000678503

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 SubmittersRCV000627802 RCV000678502

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 SubmittersRCV000579319 RCV000778909

NM_021830.5(TWNK):c.1244-14C>T

SNV
Germline

Chr10:100989630

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
not specified

Criteria Provided
Conflicting Classifications

CA5653201

rs_758757135

2 SubmittersRCV001108144 RCV001108145 RCV001108146 RCV001108147 RCV000616455

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 SubmittersRCV000779014 RCV001102837 RCV001102838 RCV001102839 RCV003222127

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 SubmittersRCV000787955 RCV003362937

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 SubmittersRCV000812598 RCV003882733

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 SubmittersRCV000855769 RCV002536207

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_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 SubmittersRCV001065150 RCV003514462

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 SubmittersRCV001105818 RCV001105817 RCV001105819 RCV001108045 RCV002069743 RCV004538327

NM_021830.5(TWNK):c.1572C>T (p.His524=)

SNV
Germline

Chr10:100990523

Conflicting classifications of pathogenicity

Autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_774091248

2 SubmittersRCV001102926 RCV001102928 RCV001102929 RCV001102927 RCV003718320

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

3 SubmittersRCV001105993 RCV001105994 RCV001105995 RCV001105996 RCV001839029 RCV002555039

NM_021830.5(TWNK):c.1953G>A (p.Lys651=)

SNV
Germline

Chr10:100993408

Conflicting classifications of pathogenicity

Autosomal recessive cerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Infantile onset spinocerebellar ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_771310512

2 SubmittersRCV001104944 RCV001104945 RCV001104946 RCV001104947 RCV003106115

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 SubmittersRCV001121336 RCV001856597 RCV002466625 RCV002491375 RCV003322852

NM_015713.4(RRM2B):c.-101G>A

SNV
Germline

Chr8:102238975

Conflicting classifications of pathogenicity

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a

Criteria Provided
Conflicting Classifications

rs_374844049

1 SubmittersRCV001161455 RCV001160047

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_007215.4(POLG2):c.775C>T (p.Arg259Ter)

SNV
Germline

Chr17:64492687

Conflicting classifications of pathogenicity

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Mitochondrial DNA depletion syndrome 16 (hepatic type)
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782006396

2 SubmittersRCV001839326 RCV003560869

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
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a

Criteria Provided
Multiple Submitters
No Conflicts

rs_2132555188

2 SubmittersRCV002049688 RCV002498084

NM_002693.3(POLG):c.1457G>A (p.Trp486Ter)

SNV
Germline

Chr15:89327040

Pathogenic

Progressive sclerosing poliodystrophy
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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2055531147

2 SubmittersRCV001970028 RCV003490974

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 SubmittersRCV002250853 RCV003094071

NM_002693.3(POLG):c.2287G>A (p.Gly763Arg)