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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Ophthalmoplegia (D009886)
..Starting node ..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive (C564926)
Child Nodes:
Sister Nodes:
..Adenine Nucleotide Translocator Deficiency (C566309)
..ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
..CANOMAD syndrome (C537980)
..Congenital Fibrosis of the Extraocular Muscles (C580012)
..External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
..Fibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..Hamano Tsukamoto syndrome (C535625)
..Inclusion Body Myopathy 3, Autosomal Dominant (C565311)
..Inclusion body myopathy, autosomal dominant (C538330)
..Minicore Myopathy with External Ophthalmoplegia (C564969)
..Motor Neuron Disease with Dementia and Ophthalmoplegia (C563954)
..Ocular Myopathy with Curare Sensitivity (C564937)
..Oculomelic amyoplasia (C537737)
..Oculootoradial syndrome (C535544)
..Ophthalmoplegia Totalis with Ptosis and Miosis (C564927)
..Ophthalmoplegia, Chronic Progressive External (D017246) 7 C:5
..Ophthalmoplegia, External, and Myopia (C564087)
..Ophthalmoplegia, Familial Static (C563500)
..Ophthalmoplegia, Familial Total, with Iris Transillumination (C563499)
..Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
..Ophthalmoplegic Migraine (D060486)
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
..PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156) L: 00050;
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575) L: 00117;
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive (C564926) L: 00118;
..PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479) L: 00534;
..PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069) L: 00510;
..PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070) L: 00535;
..Schimke X-linked mental retardation syndrome (C536630)
..Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583) L: 00042;
..Supranuclear Palsy, Progressive (D013494) 5
..Treft Sanborn Carey syndrome (C536544)
..Wieacker syndrome (C536703)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

10262

Name:

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive

Definition:

Alternative IDs:

OMIM:258450

ParentIDs:

MESH:D009886

TreeNumbers:

C10.292.562.750/C564926 |C10.597.622.447/C564926 |C11.590.472/C564926 |C23.888.592.636.447/C564926

Synonyms:

PEOB1 |Progressive External Ophthalmoplegia, Autosomal Recessive |PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 |PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

Slim Mappings:

Eye disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C564926
MeSH: C564926
OMIM: 258450;
MSeqDR : 00118;
Genes: POLG;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003581	Adult onset	HP:0040282
3	HP:0001284	Areflexia
4	HP:0002067	Bradykinesia
5	HP:0001638	Cardiomyopathy	HP:0040283
6	HP:0003688	Cytochrome C oxidase-negative muscle fibers
7	HP:0000716	Depressivity NAMDC: Depression
8	HP:0002460	Distal muscle weakness NAMDC: Muscle weakness: distal
9	HP:0001260	Dysarthria NAMDC: Dysarthria
10	HP:0007641	Dyschromatopsia	HP:0040283
11	HP:0002015	Dysphagia NAMDC: Dysphagia
12	HP:0001618	Dysphonia
13	HP:0003458	EMG: myopathic abnormalities
14	HP:0000712	Emotional lability
15	HP:0003546	Exercise intolerance NAMDC: Exercise intolerance
16	HP:0010628	Facial palsy
17	HP:0002066	Gait ataxia
18	HP:0003700	Generalized amyotrophy
19	HP:0001265	Hyporeflexia
20	HP:0006858	Impaired distal proprioception
21	HP:0006886	Impaired distal vibration sensation
22	HP:0002922	Increased CSF protein
23	HP:0003557	Increased variability in muscle fiber diameter
24	HP:0002070	Limb ataxia
25	HP:0008180	Mildly elevated creatine phosphokinase
26	HP:0003737	Mitochondrial myopathy
27	HP:0001653	Mitral regurgitation
28	HP:0001634	Mitral valve prolapse
29	HP:0003689	Multiple mitochondrial DNA deletions
30	HP:0003713	Muscle fiber necrosis
31	HP:0000648	Optic atrophy	HP:0040283
32	HP:0001300	Parkinsonism NAMDC: Parkinsonism
33	HP:0001761	Pes cavus
34	HP:0003812	Phenotypic variability
35	HP:0002403	Positive Romberg sign
36	HP:0000590	Progressive external ophthalmoplegia
37	HP:0003701	Proximal muscle weakness NAMDC: Muscle weakness: proximal
38	HP:0000508	Ptosis NAMDC: Ptosis
39	HP:0003200	Ragged-red muscle fibers
40	HP:0002747	Respiratory insufficiency due to muscle weakness
41	HP:0002063	Rigidity
42	HP:0003434	Sensory ataxic neuropathy
43	HP:0003390	Sensory axonal neuropathy
44	HP:0003376	Steppage gait
45	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria
46	HP:0000505	Visual impairment	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_002693.3(POLG):c.3483-19T>G	5428	POLG	Benign	rs2307438	RCV000127543\|RCV000758550\|RCV001789187\|RCV001789188\|RCV001789189\|RCV001789190\|RCV001711294;	N	MedGen:CN169374\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595\|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640\|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886\|M	15	89860786	89860786	NC_000015.9:g.89860786A>C	ClinGen:CA292852	CN169374 not specified;
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe)	5428	POLG	Uncertain significance	rs765949668	RCV000188524\|RCV000633541\|RCV000768050\|RCV002321760;	N	MedGen:CN517202\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; MON	15	89861931	89861931	15:g.89861931T>A	ClinGen:CA316604	CN169374 not specified;
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp)	5428	POLG	Conflicting interpretations of pathogenicity	rs121918049	RCV001121336\|RCV001856597\|RCV002466625\|RCV002491375;	N	MedGen:C4763519\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886\|6 conditions	15	89862284	89862284	15:g.89862284C>A	-
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)	5428	POLG	Conflicting interpretations of pathogenicity	rs181860632	RCV000188603\|RCV000633548\|RCV001808470\|RCV002247605\|RCV002317146;	N	MedGen:CN517202\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886\|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640\|MeSH:D030342,MedGen:C0950123	15	89862296	89862296	NC_000015.9:g.89862296G>A	ClinGen:CA316740	CN517202 not provided;
NM_002693.3(POLG):c.3105-36A>G	5428	POLG	Benign	rs2246900	RCV000758547\|RCV001789365\|RCV001672951\|RCV001789366\|RCV001789367\|RCV001789368;	N	MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595\|MedGen:CN517202\|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640\|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886\|M	15	89862366	89862366	NC_000015.9:g.89862366T>C	-
NM_002693.3(POLG):c.3075G>A (p.Leu1025=)	5428	POLG	Conflicting interpretations of pathogenicity	rs146404260	RCV000230283\|RCV000768051\|RCV001705260;	N	MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; MONDO:MONDO:0011835	15	89862488	89862488	NC_000015.9:g.89862488C>T	ClinGen:CA7724261	CN169374 not specified;
NM_002693.3(POLG):c.3037G>T (p.Asp1013Tyr)	5428	POLG	Uncertain significance	rs1307399071	RCV000497709\|RCV000633536\|RCV001332168;	N	MedGen:CN517202\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886	15	89862526	89862526	15:g.89862526C>A	ClinGen:CA393751388	CN169374 not specified;
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)	5428	POLG	Conflicting interpretations of pathogenicity	rs11546842	RCV000175301\|RCV000758266\|RCV001808449;	N	MedGen:CN517202\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886	15	89864121	89864121	15:g.89864121G>A	ClinGen:CA241026,UniProtKB:P54098#VAR_023681	CN169374 not specified;
NM_002693.3:c.2734+39_2734+40insAGGT	5428	POLG	Benign	-1	RCV001789576\|RCV001789577\|RCV001789573\|RCV001789575\|RCV001789574;	N	MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595\|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886\|MOND	15	89864316	89864317	89864316	-
NM_002693.3(POLG):c.2601T>C (p.Pro867=)	5428	POLG	Conflicting interpretations of pathogenicity	rs201749977	RCV000127526\|RCV000403402\|RCV000709782\|RCV000734626\|RCV001457683;	N	MedGen:CN169374\|MedGen:C4763519\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:61366	15	89864489	89864489	NC_000015.9:g.89864489A>G	ClinGen:CA292834	CN169374 not specified;
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)	5428	POLG	Conflicting interpretations of pathogenicity	rs121918053	RCV000014466\|RCV000560575\|RCV001449754;	N	MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MedGen:CN169374	15	89865008	89865008	15:g.89865008G>A	ClinGen:CA256899,UniProtKB:P54098#VAR_058889,OMIM:174763.0018	C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	5428	POLG	Pathogenic	rs113994098	RCV000014449\|RCV000014450\|RCV000014451\|RCV000014452\|RCV000188580\|RCV000363602\|RCV000515163\|RCV000509449\|RCV000678386\|RCV001027839\|RCV001847601\|RCV002054437\|RCV002272018\|RCV002313707;	N	MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886\|MedGen:C1868097\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298\|MedGen:CN517202\|MedGen:C4763519\|6 conditions\|\|MONDO	15	89865023	89865023	15:g.89865023C>T	ClinGen:CA123144,UniProtKB:P54098#VAR_023675,OMIM:174763.0006	C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.3(POLG):c.2466C>G (p.Pro822=)	5428	POLG	Uncertain significance	rs1235161601	RCV000768052;	N	MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298; MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; MONDO:MONDO:0011835	15	89865207	89865207	NC_000015.9:g.89865207G>C	-
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)	5428	POLG	Conflicting interpretations of pathogenicity	rs769827124	RCV000261805\|RCV000547242\|RCV000678828\|RCV000626194\|RCV001263147;	N	MedGen:CN517202\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|\|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595	15	89865980	89865980	15:g.89865980G>A	ClinGen:CA7724495,UniProtKB:P54098#VAR_058887	C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	5428	POLG	Pathogenic/Likely pathogenic	rs121918054	RCV000014467\|RCV000188568\|RCV000233045\|RCV000370280\|RCV000508744\|RCV000768053\|RCV001004601\|RCV001813987\|RCV001847605\|RCV002316196;	N	MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886\|MedGen:CN517202\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MedGen:C4763519\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380\|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:6136	15	89866691	89866691	15:g.89866691C>G	ClinGen:CA201029,UniProtKB:P54098#VAR_058885,OMIM:174763.0019	C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
NM_002693.3(POLG):c.2071-22T>C	5428	POLG	Benign	rs2072267	RCV000758397\|RCV001595039\|RCV001789363\|RCV001789361\|RCV001789362\|RCV001789364;	N	MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MedGen:CN517202\|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595\|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640\|M	15	89867154	89867154	NC_000015.9:g.89867154A>G	-
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)	5428	POLG	Conflicting interpretations of pathogenicity	rs200257554	RCV000188510\|RCV000633561\|RCV000768054\|RCV001121414\|RCV001721213\|RCV002317140;	N	MedGen:CN169374\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; MON	15	89867387	89867387	NC_000015.9:g.89867387C>T	ClinGen:CA316585	CN169374 not specified;
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg)	5428	POLG	Pathogenic/Likely pathogenic	rs796052906	RCV000188671\|RCV000702972\|RCV002288793;	N	MedGen:CN517202\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886	15	89868687	89868687	NC_000015.9:g.89868687G>C	ClinGen:CA316854,UniProtKB:P54098#VAR_058884	CN517202 not provided;
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)	5428	POLG	Conflicting interpretations of pathogenicity	rs367610201	RCV000188667\|RCV001348402\|RCV001814096\|RCV001847837;	N	MedGen:CN517202\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orp	15	89868822	89868822	NC_000015.9:g.89868822A>G	ClinGen:CA316846	CN517202 not provided;
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	5428	POLG	Conflicting interpretations of pathogenicity	rs113994096	RCV000014456\|RCV000020473\|RCV000186576\|RCV000193529\|RCV000408293\|RCV000415307\|RCV000427845\|RCV000508752\|RCV001004602\|RCV001610290\|RCV001642226\|RCV001770037\|RCV001813743\|RCV001813986\|RCV001847603\|RCV002227034\|RCV002319424\|RCV002313709;	N	MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298\|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041, Orphanet:298\|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886\|MedGen:CN169374\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orp	15	89868870	89868870	15:g.89868870G>A	ClinGen:CA123146,UniProtKB:P54098#VAR_023671,OMIM:174763.0011,ClinVar:1698500	C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
NM_002693.3(POLG):c.1403A>T (p.Asn468Ile)	5428	POLG	Uncertain significance	-1	RCV002465078;	N	MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298	15	89870428	89870428	NC_000015.9:g.89870428T>A	-
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	5428	POLG	Pathogenic	rs113994095	RCV000014440\|RCV000014441\|RCV000014442\|RCV000014443\|RCV000184011\|RCV000188658\|RCV000347876\|RCV000515354\|RCV000508942\|RCV000735201\|RCV001004604\|RCV001095683\|RCV001198082\|RCV001376079\|RCV001731286\|RCV001813983\|RCV001847600\|RCV002273931\|RCV002316195;	N	MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595\|MONDO:MONDO:0016809,MedGen:C1843852, Orphanet:254881\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MONDO:MONDO:0	15	89870432	89870432	15:g.89870432C>T	ClinGen:CA123140,UniProtKB:P54098#VAR_012155,OMIM:174763.0002	C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.3(POLG):c.915C>G (p.Ser305Arg)	5428	POLG	Pathogenic/Likely pathogenic	rs769410130	RCV000188649\|RCV001332170\|RCV000758271\|RCV000995844\|RCV002372152;	N	MedGen:CN517202\|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886\|MeSH:D030342,MedGen:C0950123	15	89872282	89872282	15:g.89872282G>C	ClinGen:CA316819	CN517202 not provided;
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)	5428	POLG	Pathogenic/Likely pathogenic	rs121918044	RCV000014444\|RCV000188648\|RCV000626287\|RCV000762954\|RCV001266602\|RCV001813984;	N	MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886\|MedGen:CN517202\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|6 conditions\|MeSH:D030342,MedGen:C0950123\|Human Phenotype Ontology:HP:0012103,MedGen:C4023042	15	89872286	89872286	15:g.89872286A>C	ClinGen:CA256883,UniProtKB:P54098#VAR_012154,OMIM:174763.0003	C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
NM_002693.3(POLG):c.862C>T (p.Arg288Cys)	5428	POLG	Conflicting interpretations of pathogenicity	rs564582352	RCV000188646\|RCV000768290\|RCV000806434;	N	MedGen:CN517202\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; M	15	89872335	89872335	NC_000015.9:g.89872335G>A	ClinGen:CA316815	CN169374 not specified;
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	5428	POLG	Conflicting interpretations of pathogenicity	rs113994094	RCV000014448\|RCV000014447\|RCV000020484\|RCV000184009\|RCV000188641\|RCV000194055\|RCV000262479\|RCV000415105\|RCV001004407\|RCV001642225\|RCV001678594\|RCV001770036\|RCV001847602\|RCV001813742\|RCV001813985\|RCV002243641\|RCV002287334\|RCV002272019\|RCV002319423\|RCV00231;	N	MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298\|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886\|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041, Orphanet:298\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MedGen	15	89873415	89873415	15:g.89873415G>A	ClinGen:CA123142,UniProtKB:P54098#VAR_023664,OMIM:174763.0007,ClinVar:1698500	C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
NM_002693.3(POLG):c.331G>C (p.Gly111Arg)	5428	POLG	Uncertain significance	rs760170099	RCV000995421\|RCV001858812\|RCV002067611\|RCV002479171;	N	MedGen:CN517202\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; M	15	89876655	89876655	15:g.89876655C>G	-
NM_002693.3(POLG):c.328C>T (p.His110Tyr)	5428	POLG	Conflicting interpretations of pathogenicity	rs139599587	RCV000461638\|RCV000727081\|RCV000768048\|RCV001804925\|RCV002317148;	N	MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MedGen:CN517202\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; MON	15	89876658	89876658	NC_000015.9:g.89876658G>A	ClinGen:CA316877	CN169374 not specified;
NM_002693.3(POLG):c.67_88del (p.Gly23fs)	5428	POLG	Pathogenic/Likely pathogenic	rs2055630470	RCV001264386\|RCV001388404;	N	MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726	15	89876898	89876919	15:g.89876898_89876919del	-
NM_002693.3(POLG):c.8G>C (p.Arg3Pro)	5428	POLG	Pathogenic	rs121918045	RCV000014445;	N	MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886	15	89876978	89876978	15:g.89876978C>G	ClinGen:CA256885,UniProtKB:P54098#VAR_012153,OMIM:174763.0004	C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;