MSeqDR Mitochondrial Disease Portal


 
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Diffuse Cerebral Sclerosis of Schilder (D002549)
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Liver Cirrhosis (D008103)
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Mitochondrial Diseases (D028361)
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MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)

       Child Nodes:



 Sister Nodes: 
..expand3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)  LSDB  L: 00105;
..expandAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)  LSDB  L: 00419;
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandAtaxia Neuropathy Spectrum (C579922)
..expandBjornstad syndrome (C537633)  LSDB  L: 00084;
..expandCarbamoyl-Phosphate Synthase I Deficiency Disease (D020165)  LSDB  L: 00085;
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandCarnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)  LSDB  L: 00487;
..expandChildhood Myocerebrohepatopathy Spectrum (C579990)
..expandCoenzyme Q10 Deficiency (C564403)  LSDB  L: 00090;
..expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)  LSDB  L: 00098;
..expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)  LSDB  L: 00099;
..expandCowden-Like Syndrome (C567337)
..expandCytochrome-c Oxidase Deficiency (D030401) Child2  LSDB C:2 L: 00012;
..expandDeoxyguanosine Kinase Deficiency (C580039)
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandHypermetabolism due to Defect in Mitochondria (C565498)  LSDB  L: 00406;
..expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
..expandHypotonia-Cystinuria Syndrome (C564710)  LSDB  L: 00416;
..expandKearns-Sayre Syndrome (D007625) Child1  LSDB  L: 00143;
..expandLeigh Disease (D007888) Child12  LSDB C:3 L: 00015;
..expandLeukodystrophy, Hypomyelinating, 4 (C567390)  LSDB  L: 00421;
..expandLeukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)  LSDB  L: 00418;
..expandMedium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..expandMitochondrial complex I deficiency (C537475)  LSDB  L: 00011;
..expandMitochondrial Complex II Deficiency (C565375)  LSDB  L: 00016;
..expandMitochondrial Complex III Deficiency (C565128)  LSDB  L: 00017;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)  LSDB  L: 00023;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)  LSDB  L: 00031;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)  LSDB  L: 00032;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)  LSDB  L: 00035;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)  LSDB  L: 00038;
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMitochondrial Phosphate Carrier Deficiency (C563665)  LSDB  L: 00040;
..expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1  LSDB  L: 00439;
..expandMultiple Mitochondrial Dysfunctions Syndrome (C565304)  LSDB  L: 00043;
..expandMULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)  LSDB  L: 00043;
..expandMyopathy with Giant Abnormal Mitochondria (C564971)  LSDB  L: 00409;
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandNavajo neurohepatopathy (C538344) Child1  LSDB C:1
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)  LSDB  L: 00410;
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandParkinson Disease, Mitochondrial (C564015)
..expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)  LSDB  L: 00046;
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)  LSDB  L: 00117;
..expandProgressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)  LSDB  L: 00049;
..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)  LSDB  L: 00412;
..expandPyruvate Carboxylase Deficiency Disease (D015324) Child1  LSDB  L: 00398;
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
..expandSarcosinemia (C537236)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSuccinate-Coa Ligase Deficiency (C580473)
..expandVDAC Deficiency (C565767)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
..expandWolfram Syndrome 2 (C565733)  LSDB  L: 00490;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7315
Name:MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
Definition:
Alternative IDs:
ParentIDs:MESH:D002549|MESH:D008103|MESH:D028361
TreeNumbers:C06.552.630/203700 |C10.114.375.112/203700 |C10.228.140.400/203700 |C10.228.140.695.562.112/203700 |C10.314.350.112/203700 |C18.452.660/203700 |C20.111.258.250.175/203700
Synonyms:ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS |ALPERS-HUTTENLOCHER SYNDROME |ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY |ALPERS SYNDROME |MTDPS4A |NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE |PNDC
Slim Mappings:Digestive system disease|Immune system disease|Metabolic disease|Nervous system disease
Reference: MedGen: 203700
MeSH: 203700
OMIM: 203700;
MSeqDR LSDB: 00032;  
Genes: POLG;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:00035353-Methylglutaconic aciduria
4 HP:0100022Abnormality of movementtypical
5 HP:0000478Abnormality of the eye
NAMDC:  Ophthalmologic
typical
6 HP:0000649Abnormality of visual evoked potentials
7 HP:0002446Astrocytosis
8 HP:0001251Ataxia
9 HP:0001408Bile duct proliferation
10 HP:0001272Cerebellar atrophy
11 HP:0006964Cerebral cortical neurodegeneration
12 HP:0100543Cognitive impairment
NAMDC:  Cognitive delay
typical
13 HP:0100704Cortical visual impairment
14 HP:0000726Dementia
NAMDC:  Dementia
15 HP:0002376Developmental regression
16 HP:0002910Elevated hepatic transaminases
17 HP:0012847Epilepsia partialis continua
18 HP:0003219Ethylmalonic aciduria
19 HP:0001508Failure to thrive
20 HP:0002171Gliosis
21 HP:0001263Global developmental delay
NAMDC:  Mental retardation
22 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
23 HP:0004374Hemiplegia/hemiparesistypical
24 HP:0001399Hepatic failure
25 HP:0002240Hepatomegaly
26 HP:0001276Hypertonia
27 HP:0001276Hypertoniatypical
28 HP:0002311Incoordinationtypical
29 HP:0002922Increased CSF protein
30 HP:0002151Increased serum lactate
31 HP:0000252Microcephalytypical
32 HP:0001413Micronodular cirrhosis
33 HP:0001414Microvesicular hepatic steatosis
34 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
35 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
typical
36 HP:0001336Myoclonus
NAMDC:  Myoclonus
37 HP:0002529Neuronal loss in central nervous system
38 HP:0003470Paralysis
39 HP:0003678Rapidly progressive
40 HP:0001250Seizures
NAMDC:  Seizures
typical
41 HP:0000572Visual loss
42 HP:0002013Vomiting
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_022336.3(EDAR):c.266G>A (p.Arg89His)10913EDARPathogenic121908450RCV000006206; RCV000032598; RCV000681480; RCV000681480; NMedGen:C3887494,OMIM:224900,SNOMED CT:27025001; MedGen:C3551587; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:204150012109545744109545744OMIM Allelic Variant:604095.0002,UniProtKB (protein):Q9UNE0#VAR_013449C0406702 224900 Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;
NM_022336.3(EDAR):c.265C>T (p.Arg89Cys)10913EDARLikely pathogenic-1RCV000681479; RCV000681479; NMedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:204150012109545745109545745-C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NG_008218.2:g.23094G>A-1FANCI;POLGConflicting interpretations of pathogenicity758880377RCV000361772; RCV000267134; RCV000758389; NMedGen:C0015625, Orphanet:ORPHA84,SNOMED CT:30575002; MedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158985993389859933-C0015625 Fanconi anemia;
NM_002693.2(POLG):c.3708G>T (p.Gln1236His)-1FANCI;POLGBenign/Likely benign3087374RCV000291582; RCV000020480; RCV000327842; RCV000758401; RCV000715848; RCV000676315; RCV000118022; NMedGen:C0015625, Orphanet:ORPHA84,SNOMED CT:30575002; MedGen:C0751651, Orphanet:ORPHA68380; MedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158985999489859994UniProtKB (protein):P54098#VAR_014911C0015625 Fanconi anemia;
NM_002693.2(POLG):c.3644-9A>G-1FANCI;POLGConflicting interpretations of pathogenicity115048121RCV000352728; RCV000467871; RCV000118021; NMedGen:C0015625, Orphanet:ORPHA84,SNOMED CT:30575002; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986006789860067-C0015625 Fanconi anemia;
NM_001113378.1(FANCI):c.*384A>G-1FANCI;POLGConflicting interpretations of pathogenicity536522307RCV000405320; RCV000758387; RCV000432859; NMedGen:C0015625, Orphanet:ORPHA84,SNOMED CT:30575002; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986007489860074-C0015625 Fanconi anemia;
NM_002693.2(POLG):c.3428A>G (p.Glu1143Gly)-1FANCI;POLGBenign/Likely benign2307441RCV000755650; RCV000755650; RCV000386578; RCV000755650; RCV000755650; RCV000020476; RCV000469563; RCV000755650; RCV000715555; RCV000755650; RCV000676317; RCV000118018; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C0015625, Orphanet:ORPHA84,SNOMED CT:30575002; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0751651, Orphanet:ORPHA68380; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED 158986182689861826HGMD:CM042765,UniProtKB (protein):P54098#VAR_014909C0015625 Fanconi anemia;
NM_002693.2(POLG):c.3105-11T>C-1FANCI;POLGBenign/Likely benign2302084RCV000281377; RCV000284559; RCV000758546; RCV000153754; NMedGen:C0015625, Orphanet:ORPHA84,SNOMED CT:30575002; MedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986234189862341-C0015625 Fanconi anemia;
NM_002693.2(POLG):c.2958C>T (p.Tyr986=)-1FANCI;POLGBenign/Likely benign2307431RCV000338726; RCV000341944; RCV000467151; RCV000715617; RCV000676320; RCV000118015; NMedGen:C0015625, Orphanet:ORPHA84,SNOMED CT:30575002; MedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158986402089864020-C0015625 Fanconi anemia;
NM_002693.2(POLG):c.*30G>A5428POLGUncertain significance3087376RCV000381450; RCV000758402; NMedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158985995289859952-CN239393 POLG-Related Spectrum Disorders;
NM_002693.2(POLG):c.3716delC (p.Pro1239Hisfs)5428POLGUncertain significance1555452076RCV000633555; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158985998689859986-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.3712G>C (p.Gly1238Arg)5428POLGUncertain significance-1RCV000699336; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158985999089859990-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.3700C>A (p.Arg1234=)5428POLGConflicting interpretations of pathogenicity144346886RCV000536053; RCV000710187; RCV000127550; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986000289860002-CN169374 not specified;
NM_002693.2(POLG):c.3680C>A (p.Thr1227Asn)5428POLGUncertain significance-1RCV000758338; RCV000734457; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986002289860022-
NM_002693.2(POLG):c.3673dup (p.Glu1225Glyfs)5428POLGPathogenic-1RCV000758491; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986002989860029-
NM_002693.2(POLG):c.3671T>C (p.Ile1224Thr)5428POLGUncertain significance779072487RCV000758337; RCV000522166; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986003189860031-CN169374 not specified;
NM_002693.2(POLG):c.3667A>G (p.Ile1223Val)5428POLGConflicting interpretations of pathogenicity148786642RCV000765232; RCV000765232; RCV000765232; RCV000765232; RCV000548544; RCV000765232; RCV000765232; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C184158986003589860035-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.3652C>T (p.Leu1218=)5428POLGConflicting interpretations of pathogenicity146301349RCV000758388; RCV000726207; RCV000188539; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986005089860050-CN169374 not specified;
NM_002693.2(POLG):c.3650C>T (p.Ala1217Val)5428POLGUncertain significance199751339RCV000765233; RCV000765233; RCV000765233; RCV000765233; RCV000758560; RCV000765233; RCV000765233; RCV000766619; RCV000188632; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C184158986005289860052-CN169374 not specified;
NM_002693.2(POLG):c.3644-14G>C5428POLGBenign3087375RCV000758554; RCV000188538; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986007289860072-CN169374 not specified;
NM_002693.2(POLG):c.3643+180G>A5428POLGLikely benign-1RCV000758413; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986042789860427-
NM_002693.2(POLG):c.3643+48A>G5428POLGBenign-1RCV000758553; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986055989860559-
NM_002693.2(POLG):c.3643+25A>G5428POLGLikely benign-1RCV000758552; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986058289860582-
NM_002693.2(POLG):c.3640C>T (p.Gln1214Ter)5428POLGConflicting interpretations of pathogenicity781256643RCV000758431; RCV000579250; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986061089860610-CN169374 not specified;
NM_002693.2(POLG):c.3640C>G (p.Gln1214Glu)5428POLGLikely benign-1RCV000758336; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986061089860610-
NM_002693.2(POLG):c.3614G>C (p.Gly1205Ala)5428POLGLikely pathogenic-1RCV000758335; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986063689860636-
NM_002693.2(POLG):c.3612_3613insAACT (p.Gly1205Asnfs)5428POLGPathogenic886043241RCV000339912; RCV000290739; RCV000408338; RCV000385008; RCV000345512; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595158986063789860638-C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.3610A>T (p.Thr1204Ser)5428POLGLikely benign-1RCV000758334; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986064089860640-
NM_002693.2(POLG):c.3597C>A (p.Thr1199=)5428POLGBenign2307443RCV000231024; RCV000715742; RCV000676316; RCV000127547; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158986065389860653-CN517202 not provided;
NM_002693.2(POLG):c.3597C>T (p.Thr1199=)5428POLGLikely benign2307443RCV000560016; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986065389860653-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.3586G>A (p.Asp1196Asn)5428POLGConflicting interpretations of pathogenicity765344513RCV000758333; RCV000188628; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986066489860664-CN169374 not specified;
NM_002693.2(POLG):c.3584T>G (p.Met1195Arg)5428POLGUncertain significance-1RCV000758332; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986066689860666-
NM_002693.2(POLG):c.3573G>T (p.Lys1191Asn)5428POLGConflicting interpretations of pathogenicity1085307741RCV000758421; RCV000489004; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986067789860677-CN517202 not provided;
NM_002693.2(POLG):c.3572A>G (p.Lys1191Arg)5428POLGPathogenic-1RCV000758331; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986067889860678-
NM_002693.2(POLG):c.3564C>T (p.Cys1188=)5428POLGConflicting interpretations of pathogenicity146584956RCV000547592; RCV000127546; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986068689860686-CN169374 not specified;
NM_002693.2(POLG):c.3562T>C (p.Cys1188Arg)5428POLGLikely pathogenic-1RCV000758330; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986068889860688-
NM_002693.2(POLG):c.3561G>C (p.Arg1187=)5428POLGConflicting interpretations of pathogenicity62640037RCV000388497; RCV000474604; RCV000716159; RCV000118020; NMedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN169374158986068989860689-CN169374 not specified;
NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp)5428POLGConflicting interpretations of pathogenicity369544574RCV000633564; RCV000712805; RCV000188627; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986069189860691-CN169374 not specified;
NM_002693.2(POLG):c.3549C>T (p.Val1183=)5428POLGConflicting interpretations of pathogenicity777231247RCV000296446; RCV000535127; RCV000435511; NMedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986070189860701-CN169374 not specified;
NM_002693.2(POLG):c.3542G>A (p.Ser1181Asn)5428POLGUncertain significance149921636RCV000633559; RCV000416245; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986070889860708-CN517202 not provided;
NM_002693.2(POLG):c.3531C>T (p.Val1177=)5428POLGLikely benign1060504039RCV000470672; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986071989860719-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.3527C>T (p.Ser1176Leu)5428POLGConflicting interpretations of pathogenicity776031396RCV000686358; RCV000493365; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986072389860723-CN517202 not provided;
NM_002693.2(POLG):c.3526T>C (p.Ser1176Pro)5428POLGLikely pathogenic-1RCV000758329; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986072489860724-
NM_002693.2(POLG):c.3523C>T (p.Gln1175Ter)5428POLGPathogenic-1RCV000686623; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986072789860727-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.3519G>A (p.Leu1173=)5428POLGConflicting interpretations of pathogenicity953889846RCV000465233; RCV000516266; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986073189860731-CN169374 not specified;
NM_002693.2(POLG):c.3516C>G (p.Asp1172Glu)5428POLGConflicting interpretations of pathogenicity766196697RCV000758328; RCV000188626; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986073489860734-CN169374 not specified;
NM_002693.2(POLG):c.3509T>G (p.Leu1170Arg)5428POLGLikely pathogenic796052913RCV000758327; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986074189860741-
NM_002693.2(POLG):c.3505G>A (p.Gly1169Ser)5428POLGUncertain significance753864625RCV000765234; RCV000765234; RCV000765234; RCV000765234; RCV000765234; RCV000765234; RCV000188625; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595; MedGen:CN517202158986074589860745-CN169374 not specified;
NM_002693.2(POLG):c.3483-4_3497del5428POLGPathogenic-1RCV000758281; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986075389860771-
NM_002693.2(POLG):c.3488_3491dup (p.Ala1165Valfs)5428POLGPathogenic-1RCV000758430; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986075789860760-
NM_002693.2(POLG):c.3483-2A>G5428POLGPathogenic/Likely pathogenic1057518035RCV000758490; RCV000414416; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986076989860769-CN517202 not provided;
NM_002693.2(POLG):c.3483-14T>A5428POLGLikely benign-1RCV000758386; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986078189860781-
NM_002693.2(POLG):c.3483-19T>G5428POLGBenign2307438RCV000758550; RCV000127543; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986078689860786-CN169374 not specified;
NM_002693.2(POLG):c.3483-41A>C5428POLGBenign-1RCV000758551; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986080889860808-
NM_002693.2(POLG):c.3482+44G>A5428POLGBenign-1RCV000758549; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986172889861728-
NM_002693.2(POLG):c.3482+7G>A5428POLGConflicting interpretations of pathogenicity200309191RCV000633572; RCV000726902; RCV000118019; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986176589861765-CN169374 not specified;
NM_002693.2(POLG):c.3482+6C>T5428POLGConflicting interpretations of pathogenicity55779802RCV000768049; RCV000768049; RCV000768049; RCV000316461; RCV000559092; RCV000768049; RCV000768049; RCV000726414; RCV000127539; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C3150914,OMIM:613662; MedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:60158986176689861766-CN169374 not specified;
NM_002693.2(POLG):c.3482+6C>G5428POLGUncertain significance55779802RCV000546684; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986176689861766-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.3472C>A (p.Leu1158Ile)5428POLGLikely benign-1RCV000758479; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986178289861782-
NM_002693.2(POLG):c.3470A>G (p.Asn1157Ser)5428POLGLikely pathogenic548076633RCV000758478; RCV000188622; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986178489861784-CN517202 not provided;
NM_002693.2(POLG):c.3463A>G (p.Ile1155Val)5428POLGUncertain significance749640920RCV000633545; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986179189861791-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.3461A>T (p.Gln1154Leu)5428POLGUncertain significance-1RCV000697807; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986179389861793-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.3456C>G (p.Ala1152=)5428POLGLikely benign-1RCV000758385; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986179889861798-
NM_002693.2(POLG):c.3451C>T (p.Leu1151=)5428POLGBenign/Likely benign769193603RCV000758384; RCV000422598; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986180389861803-CN169374 not specified;
NM_002693.2(POLG):c.3450C>T (p.Ala1150=)5428POLGConflicting interpretations of pathogenicity774880085RCV000758476; RCV000720576; RCV000734120; RCV000188527; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158986180489861804-CN169374 not specified;
NM_002693.2(POLG):c.3447dup (p.Ala1150Cysfs)5428POLGPathogenic-1RCV000758280; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986180789861807-
NM_002693.2(POLG):c.3444C>T (p.Arg1148=)5428POLGConflicting interpretations of pathogenicity374937961RCV000529785; RCV000712802; RCV000442460; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986181089861810-CN169374 not specified;
NM_002693.2(POLG):c.3442C>T (p.Arg1148Cys)5428POLGUncertain significance149099318RCV000558287; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986181289861812-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys)5428POLGConflicting interpretations of pathogenicity2307440RCV000020477; RCV000545884; RCV000513124; NMedGen:C0751651, Orphanet:ORPHA68380; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986181889861818UniProtKB (protein):P54098#VAR_014910C0751651 Mitochondrial diseases;
NM_002693.2(POLG):c.3429_3432dup (p.Asp1145Glyfs)5428POLGPathogenic-1RCV000758279; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986182189861824-
NM_002693.2(POLG):c.3427G>A (p.Glu1143Lys)5428POLGUncertain significance-1RCV000701540; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986182789861827-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.3425G>A (p.Arg1142Gln)5428POLGUncertain significance536732038RCV000765235; RCV000765235; RCV000765235; RCV000765235; RCV000765235; RCV000765235; RCV000723998; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595; MedGen:CN517202158986182989861829-CN169374 not specified;
NM_002693.2(POLG):c.3424C>T (p.Arg1142Trp)5428POLGUncertain significance2307442RCV000020475; RCV000533411; RCV000734718; NMedGen:C0751651, Orphanet:ORPHA68380; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986183089861830UniProtKB (protein):P54098#VAR_014908C0751651 Mitochondrial diseases;
NM_002693.2(POLG):c.3412C>T (p.Arg1138Cys)5428POLGLikely pathogenic767138032RCV000758475; RCV000676318; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986184289861842-CN517202 not provided;
NM_002693.2(POLG):c.3409dupG (p.Val1137Glyfs)5428POLGPathogenic/Likely pathogenic1555452461RCV000690284; RCV000484097; RCV000506657; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986184589861845-CN517202 not provided;
NM_002693.2(POLG):c.3405C>T (p.Asp1135=)5428POLGBenign/Likely benign2307445RCV000633563; RCV000431112; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986184989861849-CN169374 not specified;
NM_002693.2(POLG):c.3390C>T (p.Cys1130=)5428POLGLikely benign-1RCV000758474; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986186489861864-
NM_002693.2(POLG):c.3383G>A (p.Arg1128His)5428POLGConflicting interpretations of pathogenicity-1RCV000758473; RCV000728455; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986187189861871-
NM_002693.2(POLG):c.3360T>G (p.Phe1120Leu)5428POLGUncertain significance-1RCV000692893; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986189489861894-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.3346A>G (p.Met1116Val)5428POLGUncertain significance201144044RCV000552872; RCV000188618; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986190889861908-CN169374 not specified;
NM_002693.2(POLG):c.3338T>C (p.Leu1113Pro)5428POLGLikely pathogenic-1RCV000758472; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986191689861916-
NM_002693.2(POLG):c.3323A>T (p.Tyr1108Phe)5428POLGUncertain significance765949668RCV000768050; RCV000768050; RCV000768050; RCV000633541; RCV000768050; RCV000768050; RCV000188524; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:OR158986193189861931-CN169374 not specified;
NM_002693.2(POLG):c.3317T>C (p.Val1106Ala)5428POLGUncertain significance1354582663RCV000765236; RCV000765236; RCV000623937; RCV000765236; RCV000765236; RCV000765236; RCV000765236; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MeSH:D030342,MedGen:C0950123; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595158986193789861937-C0950123 Inborn genetic diseases;
NM_002693.2(POLG):c.3316G>T (p.Val1106Phe)5428POLGUncertain significance-1RCV000698610; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986193889861938-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.3306G>C (p.Gln1102His)5428POLGUncertain significance-1RCV000758471; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986194889861948-
NM_002693.2(POLG):c.3298G>A (p.Val1100Met)5428POLGUncertain significance-1RCV000758470; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986195689861956-
NM_002693.2(POLG):c.3294T>C (p.Asn1098=)5428POLGBenign/Likely benign374224714RCV000758383; RCV000127536; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986196089861960-CN169374 not specified;
NM_002693.2(POLG):c.3293A>T (p.Asn1098Ile)5428POLGUncertain significance-1RCV000758469; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986196189861961-
NM_002693.2(POLG):c.3287G>A (p.Arg1096His)5428POLGConflicting interpretations of pathogenicity368435864RCV000551933; RCV000718125; RCV000188614; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202158986196789861967UniProtKB (protein):P54098#VAR_058894CN517202 not provided;
NM_002693.2(POLG):c.3286C>T (p.Arg1096Cys)5428POLGPathogenic/Likely pathogenic201732356RCV000762952; RCV000762952; RCV000762952; RCV000762952; RCV000758420; RCV000762952; RCV000762952; RCV000188613; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C184158986196889861968UniProtKB (protein):P54098#VAR_023686CN517202 not provided;
NM_002693.2(POLG):c.3285C>G (p.Ser1095Arg)5428POLGPathogenic/Likely pathogenic761649878RCV000709798; RCV000758419; RCV000441353; Nna; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986196989861969-CN517202 not provided;
NM_002693.2(POLG):c.3279G>A (p.Met1093Ile)5428POLGUncertain significance-1RCV000703419; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986197589861975-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.3274-19G>A5428POLGBenign/Likely benign116925016RCV000758548; RCV000127535; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986199989861999-CN169374 not specified;
NM_002693.2(POLG):c.3274-47G>A5428POLGLikely benign-1RCV000758382; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986202789862027-
NM_002693.2(POLG):c.3273+34G>A5428POLGLikely benign-1RCV000758381; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986212889862128-
NM_002693.2(POLG):c.3273+28A>C5428POLGLikely benign-1RCV000758380; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986213489862134-
NM_002693.2(POLG):c.3273+8G>A5428POLGUncertain significance-1RCV000758468; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986215489862154-
NM_002693.2(POLG):c.3273+6T>A5428POLGConflicting interpretations of pathogenicity886051522RCV000281171; RCV000460872; NMedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986215689862156-CN239393 POLG-Related Spectrum Disorders;
NM_002693.2(POLG):c.3266A>G (p.Gln1089Arg)5428POLGUncertain significance-1RCV000758467; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986216989862169-
NM_002693.2(POLG):c.3258G>A (p.Ser1086=)5428POLGConflicting interpretations of pathogenicity-1RCV000758535; RCV000732872; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986217789862177-
NM_002693.2(POLG):c.3240_3242dupCCG (p.Arg1081_Ala1082insArg)5428POLGLikely pathogenic1064794213RCV000758326; RCV000485688; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986219389862195-CN517202 not provided;
NM_002693.2(POLG):c.3242G>C (p.Arg1081Pro)5428POLGLikely pathogenic-1RCV000758466; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986219389862193-
NM_002693.2(POLG):c.3241C>T (p.Arg1081Ter)5428POLGPathogenic-1RCV000758278; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986219489862194-
NM_002693.2(POLG):c.3235A>C (p.Ile1079Leu)5428POLGUncertain significance-1RCV000758325; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986220089862200-
NM_002693.2(POLG):c.3229T>G (p.Cys1077Gly)5428POLGLikely pathogenic-1RCV000758324; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986220689862206-
NM_002693.2(POLG):c.3228C>G (p.Gly1076=)5428POLGLikely benign-1RCV000758534; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986220789862207-
NM_002693.2(POLG):c.3222G>T (p.Val1074=)5428POLGConflicting interpretations of pathogenicity746773616RCV000758533; RCV000734817; RCV000600336; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986221389862213-CN169374 not specified;
NM_002693.2(POLG):c.3218C>T (p.Pro1073Leu)5428POLGPathogenic267606959RCV000014471; RCV000014470; RCV000188673; NMedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986221789862217OMIM Allelic Variant:174763.0022C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NM_002693.2(POLG):c.3216C>G (p.Thr1072=)5428POLGConflicting interpretations of pathogenicity146936870RCV000697212; RCV000723849; RCV000186651; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986221989862219-CN169374 not specified;
NM_002693.2(POLG):c.3215C>G (p.Thr1072Ser)5428POLGUncertain significance530757118RCV000633539; RCV000188609; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986222089862220-CN169374 not specified;
NM_002693.2(POLG):c.3204C>G (p.Asp1068Glu)5428POLGUncertain significance1057523186RCV000765237; RCV000765237; RCV000765237; RCV000765237; RCV000758323; RCV000765237; RCV000717428; RCV000765237; RCV000423533; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Pheno158986223189862231-CN169374 not specified;
NM_002693.2(POLG):c.3198G>A (p.Thr1066=)5428POLGConflicting interpretations of pathogenicity61752780RCV000338380; RCV000475971; RCV000715561; RCV000676319; RCV000127533; NMedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158986223789862237-CN517202 not provided;
NM_002693.2(POLG):c.3195T>C (p.Ala1065=)5428POLGLikely benign756235228RCV000633566; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986224089862240-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.3176A>G (p.Asn1059Ser)5428POLGUncertain significance201192905RCV000765238; RCV000765238; RCV000765238; RCV000765238; RCV000633540; RCV000765238; RCV000765238; RCV000723977; RCV000188605; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C184158986225989862259-CN169374 not specified;
NM_002693.2(POLG):c.3176A>T (p.Asn1059Ile)5428POLGUncertain significance201192905RCV000693468; RCV000188606; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986225989862259-CN169374 not specified;
NM_002693.2(POLG):c.3170T>C (p.Met1057Thr)5428POLGUncertain significance-1RCV000758322; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986226589862265-
NM_002693.2(POLG):c.3155dup (p.Thr1053Hisfs)5428POLGPathogenic1447799185RCV000538511; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986228089862280-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.3151G>C (p.Gly1051Arg)5428POLGConflicting interpretations of pathogenicity121918049RCV000226986; RCV000014455; RCV000188604; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595; MedGen:CN517202158986228489862284OMIM Allelic Variant:174763.0010,UniProtKB (protein):P54098#VAR_023684CN517202 not provided;
NM_002693.2(POLG):c.3151G>A (p.Gly1051Arg)5428POLGConflicting interpretations of pathogenicity-1RCV000685758; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986228489862284-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2:c.3149del5428POLGPathogenic-1RCV000758277; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986228689862286-
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp)5428POLGConflicting interpretations of pathogenicity181860632RCV000633548; RCV000720665; RCV000188603; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202158986229689862296-CN517202 not provided;
NM_002693.2(POLG):c.3131T>C (p.Val1044Ala)5428POLGUncertain significance150233690RCV000515366; RCV000515366; RCV000678829; RCV000515366; RCV000515366; RCV000234341; RCV000515366; RCV000720436; RCV000515366; RCV000118016; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; Human Phenotype Ontology:HP:0002353,MedGen:C0151611; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203158986230489862304-C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.3126G>A (p.Glu1042=)5428POLGLikely benign-1RCV000758532; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986230989862309-
NM_002693.2(POLG):c.3105-19T>C5428POLGLikely benign-1RCV000758530; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986234989862349-
NM_002693.2(POLG):c.3105-22C>T5428POLGLikely benign-1RCV000758531; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986235289862352-
NM_002693.2(POLG):c.3105-36A>G5428POLGBenign-1RCV000758547; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986236689862366-
NM_002693.2(POLG):c.3105-65A>G5428POLGLikely benign-1RCV000758412; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986239589862395-
NM_002693.2(POLG):c.3104+50C>T5428POLGLikely benign-1RCV000758529; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986240989862409-
NM_002693.2(POLG):c.3104+32G>A5428POLGLikely benign-1RCV000758528; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986242789862427-
NM_002693.2(POLG):c.3104+27G>A5428POLGLikely benign-1RCV000758527; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986243289862432-
NM_002693.2(POLG):c.3104+24G>C5428POLGLikely benign-1RCV000758526; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986243589862435-
NM_002693.2(POLG):c.3104+8C>A5428POLGConflicting interpretations of pathogenicity754615624RCV000526953; RCV000726786; RCV000188520; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986245189862451-CN169374 not specified;
NM_002693.2(POLG):c.3104+3A>T5428POLGPathogenic-1RCV000758418; RCV000715686; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572158986245689862456-
NM_002693.2(POLG):c.3104+1G>A5428POLGPathogenic-1RCV000758276; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986245889862458-
NM_002693.2(POLG):c.3101G>A (p.Arg1034Lys)5428POLGUncertain significance201014720RCV000758321; RCV000493683; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986246289862462-CN169374 not specified;
NM_002693.2(POLG):c.3098C>T (p.Ala1033Val)5428POLGUncertain significance551708243RCV000765239; RCV000765239; RCV000765239; RCV000660574; RCV000765239; RCV000551001; RCV000660574; RCV000765239; RCV000660574; RCV000765239; RCV000710186; RCV000188519; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SN158986246589862465-C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NM_002693.2(POLG):c.3091_3092delGA (p.Glu1031Asnfs)5428POLGPathogenic1555452607RCV000526093; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986247189862472-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.3077G>A (p.Arg1026His)5428POLGUncertain significance777038915RCV000633553; RCV000188678; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986248689862486-CN169374 not specified;
NM_002693.2(POLG):c.3076C>T (p.Arg1026Cys)5428POLGUncertain significance760043525RCV000765240; RCV000765240; RCV000765240; RCV000765240; RCV000765240; RCV000765240; RCV000188600; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595; MedGen:CN517202158986248789862487-CN169374 not specified;
NM_002693.2(POLG):c.3075G>A (p.Leu1025=)5428POLGConflicting interpretations of pathogenicity146404260RCV000768051; RCV000768051; RCV000768051; RCV000230283; RCV000768051; RCV000768051; RCV000432604; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:OR158986248889862488-CN169374 not specified;
NM_002693.2(POLG):c.3067C>T (p.Gln1023Ter)5428POLGPathogenic-1RCV000758275; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986249689862496-
NM_002693.2(POLG):c.3057G>A (p.Trp1019Ter)5428POLGPathogenic-1RCV000014465; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986250689862506OMIM Allelic Variant:174763.0017C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.3051T>C (p.Gly1017=)5428POLGLikely benign1555452613RCV000550086; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986251289862512-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.3046G>A (p.Glu1016Lys)5428POLGUncertain significance763290547RCV000758319; RCV000712799; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986251789862517-CN169374 not specified;
NM_002693.2(POLG):c.3040A>G (p.Arg1014Gly)5428POLGUncertain significance764195223RCV000758318; RCV000493268; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986252389862523-CN169374 not specified;
NM_002693.2(POLG):c.3037G>T (p.Asp1013Tyr)5428POLGUncertain significance1307399071RCV000633536; RCV000497709; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986252689862526-CN169374 not specified;
NM_002693.2(POLG):c.3025A>T (p.Asn1009Tyr)5428POLGUncertain significance-1RCV000758317; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986253889862538-
NM_002693.2(POLG):c.3017G>A (p.Arg1006Lys)5428POLGUncertain significance142732551RCV000704540; RCV000188518; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986254689862546-CN169374 not specified;
NM_002693.2(POLG):c.3009G>C (p.Trp1003Cys)5428POLGUncertain significance1064796455RCV000633554; RCV000485857; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986255489862554-CN169374 not specified;
NM_002693.2(POLG):c.3006G>C (p.Glu1002Asp)5428POLGUncertain significance-1RCV000691635; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986255789862557-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2998G>A (p.Glu1000Lys)5428POLGUncertain significance-1RCV000758465; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986256589862565-
NM_002693.2(POLG):c.2994G>C (p.Ser998=)5428POLGBenign/Likely benign567030498RCV000633571; RCV000712798; RCV000286242; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986256989862569-CN169374 not specified;
NM_002693.2(POLG):c.2987G>A (p.Arg996Gln)5428POLGUncertain significance770236576RCV000633551; RCV000730152; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986257689862576-CN169374 not specified;
NM_002693.2(POLG):c.2984A>G (p.Tyr995Cys)5428POLGUncertain significance-1RCV000758464; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986257989862579-
NM_002693.2(POLG):c.2982-3C>T5428POLGConflicting interpretations of pathogenicity538731397RCV000525150; RCV000426083; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986258489862584-CN169374 not specified;
NM_002693.2(POLG):c.2982-16A>G5428POLGLikely benign-1RCV000758524; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986259789862597-
NM_002693.2(POLG):c.2982-30G>A5428POLGBenign-1RCV000758559; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986261189862611-
NM_002693.2(POLG):c.2982-31C>T5428POLGLikely benign-1RCV000758400; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986261289862612-
NM_002693.2(POLG):c.2982-50G>A5428POLGLikely benign-1RCV000758525; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986263189862631-
NM_002693.2(POLG):c.2977C>T (p.Arg993Cys)5428POLGUncertain significance551811489RCV000465502; RCV000732917; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986400189864001-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2963C>T (p.Ala988Val)5428POLGUncertain significance-1RCV000695379; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986401589864015-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2939A>C (p.Glu980Ala)5428POLGUncertain significance754202777RCV000633547; RCV000712797; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986403989864039-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2915G>A (p.Arg972Gln)5428POLGUncertain significance200309005RCV000758463; RCV000727299; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986406389864063-CN169374 not specified;
NM_002693.2(POLG):c.2896C>T (p.Leu966=)5428POLGLikely benign-1RCV000758523; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986408289864082-
NM_002693.2(POLG):c.2890C>T (p.Arg964Cys)5428POLGConflicting interpretations of pathogenicity201477273RCV000490261; RCV000490261; RCV000633558; RCV000718592; RCV000188591; NMedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202158986408889864088-C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NM_002693.2(POLG):c.2880C>T (p.Pro960=)5428POLGConflicting interpretations of pathogenicity752500492RCV000549125; RCV000727181; RCV000439140; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986409889864098-CN169374 not specified;
NM_002693.2(POLG):c.2874G>T (p.Gly958=)5428POLGLikely benign-1RCV000758522; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986410489864104-
NM_002693.2(POLG):c.2870C>T (p.Ala957Val)5428POLGPathogenic/Likely pathogenic753160398RCV000758268; RCV000304218; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986410889864108-CN517202 not provided;
NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys)5428POLGPathogenic113994099RCV000014439; RCV000508934; RCV000758267; RCV000676321; NMedGen:C1834846,OMIM:157640; MedGen:C0751651, Orphanet:ORPHA68380; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986411489864114OMIM Allelic Variant:174763.0001,UniProtKB (protein):P54098#VAR_012156C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.2858G>A (p.Arg953His)5428POLGLikely pathogenic-1RCV000758462; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986412089864120-
NM_002693.2(POLG):c.2857C>T (p.Arg953Cys)5428POLGConflicting interpretations of pathogenicity11546842RCV000758266; RCV000175301; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986412189864121UniProtKB (protein):P54098#VAR_023681CN169374 not specified;
NM_002693.2(POLG):c.2854G>A (p.Gly952Ser)5428POLGLikely pathogenic-1RCV000758461; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986412489864124-
NM_002693.2(POLG):c.2853C>T (p.Tyr951=)5428POLGBenign/Likely benign41546712RCV000471041; RCV000720353; RCV000712796; RCV000186650; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158986412589864125-CN169374 not specified;
NM_002693.2(POLG):c.2851T>A (p.Tyr951Asn)5428POLGPathogenic-1RCV000758460; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986412789864127-
NM_002693.2:c.2845_2847del5428POLGUncertain significance-1RCV000758314; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986413189864133-
NM_002693.2(POLG):c.2830G>A (p.Glu944Lys)5428POLGUncertain significance768653086RCV000633532; RCV000188589; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986414889864148-CN517202 not provided;
NM_002693.2(POLG):c.2828G>A (p.Arg943His)5428POLGPathogenic-1RCV000758265; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986415089864150-
NM_002693.2(POLG):c.2827C>T (p.Arg943Cys)5428POLGPathogenic-1RCV000758264; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986415189864151-
NM_002693.2(POLG):c.2815G>A (p.Val939Met)5428POLGUncertain significance748045254RCV000463058; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986416389864163-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2814T>C (p.Thr938=)5428POLGLikely benign771822843RCV000758379; RCV000427979; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986416489864164-CN169374 not specified;
NM_002693.2(POLG):c.2799T>G (p.Ser933Arg)5428POLGLikely pathogenic765916932RCV000758459; RCV000497987; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986417989864179-CN517202 not provided;
NM_002693.2(POLG):c.2794C>T (p.His932Tyr)5428POLGPathogenic121918048RCV000758263; RCV000014454; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595158986418489864184OMIM Allelic Variant:174763.0009,UniProtKB (protein):P54098#VAR_023679C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;
NM_002693.2(POLG):c.2791C>A (p.Leu931Ile)5428POLGUncertain significance-1RCV000758458; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986418789864187-
NM_002693.2(POLG):c.2740A>C (p.Thr914Pro)5428POLGPathogenic139590686RCV000306622; RCV000633543; RCV000321917; NMedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986423889864238UniProtKB (protein):P54098#VAR_058892CN517202 not provided;
NM_002693.2(POLG):c.2735-7C>G5428POLGBenign/Likely benign200372494RCV000463735; RCV000658724; RCV000127528; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986425089864250-CN517202 not provided;
NM_002693.2(POLG):c.2735-15C>T5428POLGBenign41544115RCV000758399; RCV000127527; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986425889864258-CN169374 not specified;
NM_002693.2(POLG):c.2735-42A>G5428POLGLikely benign-1RCV000758378; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986428589864285-
NM_002693.2(POLG):c.2734+39_2734+40insGTAG5428POLGBenign-1RCV000758398; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986431689864317-
NM_002693.2(POLG):c.2727C>T (p.Gly909=)5428POLGUncertain significance752611524RCV000459424; RCV000428928; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986436389864363-CN169374 not specified;
NM_002693.2(POLG):c.2724C>T (p.Ala908=)5428POLGConflicting interpretations of pathogenicity377390914RCV000633568; RCV000676322; RCV000188516; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986436689864366-CN517202 not provided;
NM_002693.2(POLG):c.2712C>G (p.Asp904Glu)5428POLGUncertain significance770458126RCV000536625; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986437889864378-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2698G>A (p.Ala900Thr)5428POLGLikely pathogenic-1RCV000758457; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986439289864392-
NM_002693.2(POLG):c.2688G>A (p.Leu896=)5428POLGLikely benign-1RCV000758377; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986440289864402-
NM_002693.2(POLG):c.2673dup (p.Asp892Glyfs)5428POLGPathogenic-1RCV000758274; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986441689864416-
NM_002693.2(POLG):c.2669A>C (p.Asp890Ala)5428POLGPathogenic-1RCV000758456; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986442189864421-
NM_002693.2(POLG):c.2665G>A (p.Ala889Thr)5428POLGConflicting interpretations of pathogenicity763393580RCV000695266; RCV000518474; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986442589864425-CN517202 not provided;
NM_002693.2(POLG):c.2663G>A (p.Gly888Asp)5428POLGConflicting interpretations of pathogenicity878854560RCV000227514; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986442789864427-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2662G>A (p.Gly888Ser)5428POLGPathogenic-1RCV000758316; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986442889864428-
NM_002693.2(POLG):c.2657T>C (p.Leu886Pro)5428POLGLikely pathogenic-1RCV000758315; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986443389864433-
NM_002693.2(POLG):c.2654C>T (p.Thr885Ile)5428POLGUncertain significance-1RCV000758313; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986443689864436-
NM_002693.2(POLG):c.2642C>T (p.Pro881Leu)5428POLGConflicting interpretations of pathogenicity375935084RCV000690021; RCV000734714; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986444889864448-CN169374 not specified;
NM_002693.2(POLG):c.2636A>G (p.Gln879Arg)5428POLGConflicting interpretations of pathogenicity368587966RCV000758312; RCV000188586; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986445489864454-CN517202 not provided;
NM_002693.2(POLG):c.2628C>T (p.Ala876=)5428POLGLikely benign1422065234RCV000633569; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986446289864462-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2620T>A (p.Leu874Met)5428POLGConflicting interpretations of pathogenicity758402960RCV000758311; RCV000766616; RCV000188585; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986447089864470-CN169374 not specified;
NM_002693.2(POLG):c.2617G>T (p.Glu873Ter)5428POLGPathogenic121918047RCV000014453; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986447389864473OMIM Allelic Variant:174763.0008C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2606G>A (p.Arg869Gln)5428POLGConflicting interpretations of pathogenicity1356604153RCV000758310; RCV000503882; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986448489864484-CN169374 not specified;
NM_002693.2(POLG):c.2601T>C (p.Pro867=)5428POLGConflicting interpretations of pathogenicity201749977RCV000709782; RCV000709782; RCV000709782; RCV000403402; RCV000709782; RCV000709782; RCV000734626; RCV000127526; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C3150914,OMIM:613662; MedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595; MedGen:CN517202; MedGen:CN169374158986448989864489-CN169374 not specified;
NM_002693.2(POLG):c.2600C>G (p.Pro867Arg)5428POLGUncertain significance780880601RCV000633549; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986449089864490-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2599-24T>C5428POLGLikely benign-1RCV000758375; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986451589864515-
NM_002693.2(POLG):c.2599-40G>T5428POLGLikely benign-1RCV000758376; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986453189864531-
NM_002693.2(POLG):c.2598+28T>A5428POLGLikely benign-1RCV000758374; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986493989864939-
NM_002693.2(POLG):c.2596C>T (p.Arg866Trp)5428POLGUncertain significance748777396RCV000690248; RCV000591696; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986496989864969-CN169374 not specified;
NM_002693.2(POLG):c.2589C>G (p.Ser863Arg)5428POLGLikely pathogenic-1RCV000758309; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986497689864976-
NM_002693.2(POLG):c.2584G>A (p.Ala862Thr)5428POLGLikely pathogenic778429780RCV000758455; RCV000497335; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986498189864981-CN517202 not provided;
NM_002693.2(POLG):c.2573C>T (p.Thr858Ile)5428POLGLikely pathogenic-1RCV000758454; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986499289864992-
NM_002693.2(POLG):c.2564T>C (p.Val855Ala)5428POLGPathogenic-1RCV000758453; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986500189865001-
NM_002693.2(POLG):c.2563G>T (p.Val855Leu)5428POLGPathogenic-1RCV000758452; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986500289865002-
NM_002693.2(POLG):c.2558G>A (p.Arg853Gln)5428POLGPathogenic796052888RCV000758451; RCV000188583; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986500789865007-CN517202 not provided;
NM_002693.2(POLG):c.2557C>T (p.Arg853Trp)5428POLGUncertain significance121918053RCV000014466; RCV000560575; NMedGen:C4225153,OMIM:258450; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986500889865008OMIM Allelic Variant:174763.0018,UniProtKB (protein):P54098#VAR_058889C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
NM_002693.2(POLG):c.2555G>A (p.Arg852His)5428POLGLikely pathogenic-1RCV000758450; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986501089865010-
NM_002693.2(POLG):c.2554C>T (p.Arg852Cys)5428POLGPathogenic144500145RCV000762953; RCV000762953; RCV000762953; RCV000762953; RCV000633537; RCV000762953; RCV000762953; RCV000188581; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C184158986501189865011-CN517202 not provided;
NM_002693.2(POLG):c.2551A>G (p.Thr851Ala)5428POLGPathogenic-1RCV000758417; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986501489865014-
NM_002693.2(POLG):c.2543_2544dup (p.Thr849Alafs)5428POLGPathogenic-1RCV000758429; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986502189865022-
NM_002693.2(POLG):c.2541C>T (p.Ala847=)5428POLGConflicting interpretations of pathogenicity143810171RCV000470778; RCV000720841; RCV000710185; RCV000127524; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158986502489865024-CN169374 not specified;
NM_002693.2(POLG):c.2526C>T (p.Pro842=)5428POLGLikely benign-1RCV000758373; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986503989865039-
NM_002693.2(POLG):c.2510A>G (p.Tyr837Cys)5428POLGUncertain significance778190998RCV000465346; RCV000202778; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986505589865055-CN169374 not specified;
NM_002693.2(POLG):c.2508C>T (p.Leu836=)5428POLGLikely benign183811122RCV000543640; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986505789865057-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys)5428POLGConflicting interpretations of pathogenicity41549716RCV000014463; RCV000464026; RCV000718004; RCV000224425; RCV000175036; NMedGen:C1834846,OMIM:157640; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158986507389865073OMIM Allelic Variant:174763.0015,UniProtKB (protein):P54098#VAR_023674C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.2483A>G (p.His828Arg)5428POLGUncertain significance-1RCV000758449; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986508289865082-
NM_002693.2(POLG):c.2481-7C>T5428POLGConflicting interpretations of pathogenicity2307448RCV000474664; RCV000676323; RCV000212876; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986509189865091-CN517202 not provided;
NM_002693.2(POLG):c.2481-9C>A5428POLGUncertain significance369422789RCV000535686; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986509389865093-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2481-10A>C5428POLGConflicting interpretations of pathogenicity555280530RCV000395822; RCV000468935; RCV000734135; RCV000418620; NMedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986509489865094-CN169374 not specified;
NM_002693.2(POLG):c.2481-26C>T5428POLGLikely benign-1RCV000758371; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986511089865110-
NM_002693.2(POLG):c.2481-44A>T5428POLGLikely benign-1RCV000758372; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986512889865128-
NM_002693.2(POLG):c.2480+5G>C5428POLGUncertain significance1229969606RCV000559664; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986518889865188-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2480+1G>A5428POLGPathogenic-1RCV000758428; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986519289865192-
NM_002693.2(POLG):c.2468G>A (p.Arg823His)5428POLGUncertain significance751172552RCV000765241; RCV000765241; RCV000765241; RCV000765241; RCV000765241; RCV000765241; RCV000517451; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595; MedGen:CN169374158986520589865205-CN169374 not specified;
NM_002693.2(POLG):c.2466C>G (p.Pro822=)5428POLGUncertain significance-1RCV000768052; RCV000768052; RCV000768052; RCV000768052; RCV000768052; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595158986520789865207-
NM_002693.2(POLG):c.2446C>G (p.Leu816Val)5428POLGUncertain significance748262645RCV000758308; RCV000420712; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986522789865227-CN169374 not specified;
NM_002693.2(POLG):c.2427-16T>C5428POLGLikely benign-1RCV000758369; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986526289865262-
NM_002693.2(POLG):c.2427-20C>T5428POLGLikely benign-1RCV000758370; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986526689865266-
NM_002693.2(POLG):c.2426+27G>A5428POLGBenign-1RCV000758368; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986594689865946-
NM_002693.2(POLG):c.2426+17G>A5428POLGLikely benign-1RCV000758521; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986595689865956-
NM_002693.2(POLG):c.2426+10C>G5428POLGUncertain significance-1RCV000758306; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986596389865963-
NM_002693.2(POLG):c.2426+1G>C5428POLGPathogenic-1RCV000758427; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986597289865972-
NM_002693.2(POLG):c.2424C>G (p.Ile808Met)5428POLGUncertain significance-1RCV000706227; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986597589865975-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2420G>A (p.Arg807His)5428POLGPathogenic796052887RCV000758305; RCV000188575; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986597989865979-CN517202 not provided;
NM_002693.2(POLG):c.2419C>T (p.Arg807Cys)5428POLGConflicting interpretations of pathogenicity769827124RCV000626194; RCV000547242; RCV000678828; RCV000261805; NMedGen:C4225153,OMIM:258450; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; na; MedGen:CN517202158986598089865980UniProtKB (protein):P54098#VAR_058887C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
NM_002693.2(POLG):c.2409C>T (p.Asn803=)5428POLGLikely benign-1RCV000758520; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986599089865990-
NM_002693.2(POLG):c.2395delT (p.Ser799Leufs)5428POLGPathogenic796052919RCV000758426; RCV000188698; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986600489866004-CN517202 not provided;
NM_002693.2:c.2391_2393del5428POLGLikely pathogenic-1RCV000758304; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986600689866008-
NM_002693.2(POLG):c.2392A>C (p.Ile798Leu)5428POLGConflicting interpretations of pathogenicity796052873RCV000633533; RCV000188512; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986600789866007-CN169374 not specified;
NM_002693.2(POLG):c.2369G>A (p.Arg790His)5428POLGUncertain significance191490663RCV000476234; RCV000716184; RCV000724074; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202158986603089866030-CN169374 not specified;
NM_002693.2(POLG):c.2354G>A (p.Gly785Asp)5428POLGUncertain significance-1RCV000696306; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986604589866045-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2293C>A (p.Pro765Thr)5428POLGConflicting interpretations of pathogenicity1003442806RCV000530237; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986610689866106-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2266-44G>T5428POLGLikely benign-1RCV000758518; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986617789866177-
NM_002693.2(POLG):c.2266-48del5428POLGLikely benign-1RCV000758519; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986618189866181-
NM_002693.2(POLG):c.2266-76T>C5428POLGLikely benign-1RCV000758411; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986620989866209-
NM_002693.2(POLG):c.2265+15A>G5428POLGLikely benign-1RCV000758517; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986662089866620-
NM_002693.2(POLG):c.2264A>C (p.Lys755Thr)5428POLGConflicting interpretations of pathogenicity770438363RCV000758303; RCV000598297; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986663689866636-CN169374 not specified;
NM_002693.2(POLG):c.2262C>G (p.His754Gln)5428POLGLikely pathogenic-1RCV000758302; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986663889866638-
NM_002693.2(POLG):c.2254C>T (p.Leu752=)5428POLGBenign/Likely benign41564016RCV000275068; RCV000464149; RCV000715837; RCV000676324; RCV000118013; NMedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158986664689866646-CN517202 not provided;
NM_002693.2(POLG):c.2246T>C (p.Phe749Ser)5428POLGConflicting interpretations of pathogenicity202037973RCV000758416; RCV000188572; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986665489866654-CN517202 not provided;
NM_002693.2(POLG):c.2243G>C (p.Trp748Ser)5428POLGConflicting interpretations of pathogenicity113994097RCV000144870; RCV000508846; RCV000014460; RCV000313739; RCV000014461; RCV000717487; RCV000014459; RCV000080023; RCV000507757; NMedGen:C0007959, Orphanet:ORPHA166,SNOMED CT:50548001; MedGen:C0751651, Orphanet:ORPHA68380; MedGen:C1843852; MedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:C1843851158986665789866657HGMD:CM042764,OMIM Allelic Variant:174763.0013,UniProtKB (protein):P54098#VAR_023673C0007959 Charcot-Marie-Tooth disease;
NM_002693.2(POLG):c.2217_2230dup (p.Ile744Thrfs)5428POLGPathogenic-1RCV000700867; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986667089866683-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2224G>A (p.Val742Met)5428POLGUncertain significance-1RCV000758301; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986667689866676-
NM_002693.2(POLG):c.2221G>A (p.Asp741Asn)5428POLGUncertain significance751736420RCV000546345; RCV000594899; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986667989866679-CN169374 not specified;
NM_002693.2(POLG):c.2220C>T (p.Asn740=)5428POLGConflicting interpretations of pathogenicity141538857RCV000539923; RCV000717480; RCV000727336; RCV000249671; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158986668089866680-CN169374 not specified;
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg)5428POLGConflicting interpretations of pathogenicity121918054RCV000768053; RCV000014467; RCV000768053; RCV000190616; RCV000174520; RCV000768053; RCV000508744; RCV000370280; RCV000233045; RCV000768053; RCV000720676; RCV000768053; RCV000188568; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4225153,OMIM:258450; MedGen:CN924917, Orphanet:ORPHA663; MedGen:C3150914,OMIM:613662; MedGen:C3150914,OMIM:613662; MedGen:C0751651, Orphanet:ORPHA68380; MedGen:CN239393; MedGen:C0205710,OMIM:203700158986669189866691OMIM Allelic Variant:174763.0019,UniProtKB (protein):P54098#VAR_058885C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
NM_002693.2(POLG):c.2207A>G (p.Asn736Ser)5428POLGConflicting interpretations of pathogenicity138457939RCV000515256; RCV000515256; RCV000515256; RCV000515256; RCV000231376; RCV000515256; RCV000716683; RCV000515256; RCV000712791; RCV000188567; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Pheno158986669389866693-C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.2177A>G (p.Lys726Arg)5428POLGUncertain significance774599342RCV000758300; RCV000729876; RCV000188565; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986672389866723-CN169374 not specified;
NM_002693.2(POLG):c.2165G>T (p.Arg722Leu)5428POLGUncertain significance185645212RCV000758299; RCV000188564; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986673589866735-CN169374 not specified;
NM_002693.2(POLG):c.2164C>T (p.Arg722Cys)5428POLGUncertain significance763824242RCV000458565; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986673689866736-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2158-17G>T5428POLGLikely benign-1RCV000758516; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986675989866759-
NM_002693.2(POLG):c.2157+15G>A5428POLGConflicting interpretations of pathogenicity766521182RCV000259254; RCV000758515; RCV000431288; NMedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986703189867031-CN169374 not specified;
NM_002693.2(POLG):c.2157+11C>T5428POLGConflicting interpretations of pathogenicity56411159RCV000316850; RCV000758558; RCV000127520; NMedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986703589867035-CN169374 not specified;
NM_002693.2(POLG):c.2157+10G>T5428POLGLikely benign-1RCV000758557; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986703689867036-
NM_002693.2(POLG):c.2152G>T (p.Ala718Ser)5428POLGUncertain significance755783536RCV000529308; RCV000729971; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986705189867051-CN169374 not specified;
NM_002693.2(POLG):c.2149C>T (p.Leu717=)5428POLGConflicting interpretations of pathogenicity779515404RCV000553320; RCV000731157; RCV000420096; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986705489867054-CN169374 not specified;
NM_002693.2(POLG):c.2143C>T (p.Gln715Ter)5428POLGPathogenic-1RCV000758425; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986706089867060-
NM_002693.2(POLG):c.2134G>A (p.Val712Met)5428POLGUncertain significance748834542RCV000540848; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986706989867069-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2126G>A (p.Arg709Gln)5428POLGUncertain significance-1RCV000758298; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986707789867077-
NM_002693.2(POLG):c.2125C>T (p.Arg709Ter)5428POLGPathogenic867038717RCV000758415; RCV000431312; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986707889867078-CN517202 not provided;
NM_002693.2(POLG):c.2125C>G (p.Arg709Gly)5428POLGUncertain significance-1RCV000702167; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986707889867078-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2121C>A (p.Asn707Lys)5428POLGLikely benign755502359RCV000758297; RCV000430154; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986708289867082-CN169374 not specified;
NM_002693.2(POLG):c.2118G>A (p.Glu706=)5428POLGLikely benign748699275RCV000758514; RCV000419581; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986708589867085-CN169374 not specified;
NM_002693.2(POLG):c.2111A>C (p.Lys704Thr)5428POLGUncertain significance-1RCV000758296; RCV000712790; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986709289867092-
NM_002693.2(POLG):c.2109C>A (p.Ala703=)5428POLGBenign2307429RCV000460792; RCV000717087; RCV000118012; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN169374158986709489867094-CN169374 not specified;
NM_002693.2(POLG):c.2085T>G (p.Asp695Glu)5428POLGUncertain significance776848222RCV000763989; RCV000763989; RCV000763989; RCV000763989; RCV000528399; RCV000763989; RCV000763989; RCV000732287; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C184158986711889867118-CN169374 not specified;
NM_002693.2(POLG):c.2071-4C>T5428POLGLikely benign-1RCV000758510; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986713689867136-
NM_002693.2(POLG):c.2071-14T>G5428POLGConflicting interpretations of pathogenicity150088708RCV000373859; RCV000758509; RCV000127517; NMedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986714689867146-CN169374 not specified;
NM_002693.2(POLG):c.2071-22T>C5428POLGBenign-1RCV000758397; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986715489867154-
NM_002693.2(POLG):c.2071-43C>T5428POLGLikely benign-1RCV000758511; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986717589867175-
NM_002693.2(POLG):c.2071-48G>T5428POLGLikely benign-1RCV000758512; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986718089867180-
NM_002693.2(POLG):c.2070+27T>C5428POLGLikely benign-1RCV000758508; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986731189867311-
NM_002693.2(POLG):c.2070+1G>A5428POLGPathogenic-1RCV000758424; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986733789867337-
NM_002693.2(POLG):c.2069C>T (p.Thr690Met)5428POLGUncertain significance-1RCV000763990; RCV000763990; RCV000763990; RCV000763990; RCV000703278; RCV000763990; RCV000718216; RCV000763990; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Pheno158986733989867339-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2059A>G (p.Ile687Val)5428POLGUncertain significance796052881RCV000763991; RCV000763991; RCV000763991; RCV000763991; RCV000763991; RCV000763991; RCV000188559; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595; MedGen:CN517202158986734989867349-CN169374 not specified;
NM_002693.2(POLG):c.2054G>A (p.Ser685Asn)5428POLGUncertain significance775662032RCV000633546; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986735489867354-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2045C>G (p.Thr682Ser)5428POLGUncertain significance-1RCV000758446; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986736389867363-
NM_002693.2(POLG):c.2038C>T (p.Leu680=)5428POLGLikely benign373066911RCV000758367; RCV000612617; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986737089867370-CN169374 not specified;
NM_002693.2:c.2038del5428POLGPathogenic-1RCV000758423; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986737089867370-
NM_002693.2(POLG):c.2028G>A (p.Ala676=)5428POLGConflicting interpretations of pathogenicity373550219RCV000263177; RCV000457002; RCV000710184; RCV000127516; NMedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986738089867380-CN169374 not specified;
NM_002693.2(POLG):c.2027C>T (p.Ala676Val)5428POLGConflicting interpretations of pathogenicity376306906RCV000763992; RCV000763992; RCV000763992; RCV000763992; RCV000552401; RCV000763992; RCV000763992; RCV000733276; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C184158986738189867381-CN169374 not specified;
NM_002693.2(POLG):c.2021G>A (p.Gly674Asp)5428POLGConflicting interpretations of pathogenicity200257554RCV000768054; RCV000768054; RCV000768054; RCV000633561; RCV000768054; RCV000720525; RCV000768054; RCV000188510; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,Med158986738789867387-CN169374 not specified;
NM_002693.2(POLG):c.2020G>A (p.Gly674Ser)5428POLGUncertain significance-1RCV000758445; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986738889867388-
NM_002693.2(POLG):c.2019C>T (p.Ala673=)5428POLGConflicting interpretations of pathogenicity557179508RCV000758366; RCV000311062; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986738989867389-CN169374 not specified;
NM_002693.2(POLG):c.1991G>A (p.Gly664Glu)5428POLGUncertain significance773073959RCV000706577; RCV000717263; RCV000597218; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202158986741789867417-CN169374 not specified;
NM_002693.2(POLG):c.1984G>A (p.Glu662Lys)5428POLGBenign/Likely benign2307450RCV000020474; RCV000320624; RCV000233567; RCV000715791; RCV000224640; RCV000080022; NMedGen:C0751651, Orphanet:ORPHA68380; MedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158986742489867424UniProtKB (protein):P54098#VAR_014907C0751651 Mitochondrial diseases;
NM_002693.2(POLG):c.1965G>A (p.Leu655=)5428POLGLikely benign543910258RCV000633562; RCV000601182; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986744389867443-CN169374 not specified;
NM_002693.2(POLG):c.1962C>T (p.Ser654=)5428POLGLikely benign1555453192RCV000527541; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986744689867446-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1950-9T>C5428POLGBenign/Likely benign780378329RCV000758556; RCV000188509; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986746789867467-CN169374 not specified;
NM_002693.2(POLG):c.1950-16A>C5428POLGLikely benign-1RCV000758363; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986747489867474-
NM_002693.2(POLG):c.1950-21C>T5428POLGBenign-1RCV000758396; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986747989867479-
NM_002693.2(POLG):c.1950-32_1950-30del5428POLGLikely benign-1RCV000758364; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986748889867490-
NM_002693.2(POLG):c.1950-43A>G5428POLGBenign-1RCV000758365; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986750189867501-
NM_002693.2(POLG):c.1949+44C>A5428POLGLikely benign-1RCV000758362; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986863789868637-
NM_002693.2(POLG):c.1949+20G>C5428POLGBenign/Likely benign371964664RCV000758361; RCV000127567; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986866189868661-CN169374 not specified;
NC_000015.10:g.(?_89325430)_(89330296_?)dup5428POLGUncertain significance-1RCV000633574; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986866189873527-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1949+14C>T5428POLGLikely benign-1RCV000758395; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986866789868667-
NM_002693.2(POLG):c.1949+3A>G5428POLGConflicting interpretations of pathogenicity1057523710RCV000698969; RCV000428302; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986867889868678-CN169374 not specified;
NM_002693.2(POLG):c.1943C>G (p.Pro648Arg)5428POLGPathogenic/Likely pathogenic796052906RCV000702972; RCV000188671; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986868789868687UniProtKB (protein):P54098#VAR_058884CN517202 not provided;
NM_002693.2(POLG):c.1905G>T (p.Pro635=)5428POLGConflicting interpretations of pathogenicity550592814RCV000758360; RCV000712789; RCV000430127; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986872589868725-CN169374 not specified;
NM_002693.2(POLG):c.1904C>T (p.Pro635Leu)5428POLGConflicting interpretations of pathogenicity773994204RCV000758443; RCV000188554; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986872689868726-CN169374 not specified;
NM_002693.2(POLG):c.1898A>C (p.Lys633Thr)5428POLGConflicting interpretations of pathogenicity568913937RCV000551532; RCV000732615; RCV000188670; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986873289868732-CN169374 not specified;
NM_002693.2(POLG):c.1894G>A (p.Ala632Thr)5428POLGUncertain significance-1RCV000758442; RCV000733916; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986873689868736-
NM_002693.2(POLG):c.1890C>T (p.Asn630=)5428POLGBenign/Likely benign148658588RCV000534504; RCV000127566; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986874089868740-CN169374 not specified;
NM_002693.2(POLG):c.1887C>T (p.Asp629=)5428POLGConflicting interpretations of pathogenicity886051524RCV000344383; RCV000758359; RCV000602628; NMedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986874389868743-CN169374 not specified;
NM_002693.2(POLG):c.1887C>G (p.Asp629Glu)5428POLGUncertain significance886051524RCV000633542; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986874389868743-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1885G>C (p.Asp629His)5428POLGUncertain significance1555453424RCV000526608; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986874589868745-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1882C>T (p.Arg628Trp)5428POLGUncertain significance754245040RCV000763993; RCV000763993; RCV000763993; RCV000763993; RCV000550612; RCV000763993; RCV000763993; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C184158986874889868748-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1880G>A (p.Arg627Gln)5428POLGPathogenic/Likely pathogenic375305567RCV000660508; RCV000503435; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986875089868750-CN517202 not provided;
NM_002693.2(POLG):c.1874C>T (p.Pro625Leu)5428POLGPathogenic/Likely pathogenic1064794214RCV000758441; RCV000478890; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986875689868756-CN517202 not provided;
NM_002693.2(POLG):c.1872G>A (p.Val624=)5428POLGLikely benign765506021RCV000545151; RCV000609746; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986875889868758-CN169374 not specified;
NM_002693.2(POLG):c.1862G>A (p.Gly621Asp)5428POLGLikely pathogenic-1RCV000758440; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986876889868768-
NM_002693.2(POLG):c.1850G>A (p.Arg617His)5428POLGConflicting interpretations of pathogenicity779961986RCV000758555; RCV000725018; RCV000374839; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986878089868780-CN169374 not specified;
NM_002693.2(POLG):c.1849C>T (p.Arg617Cys)5428POLGUncertain significance-1RCV000758409; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986878189868781-
NM_002693.2(POLG):c.1837C>T (p.His613Tyr)5428POLGConflicting interpretations of pathogenicity147407423RCV000768055; RCV000768055; RCV000768055; RCV000538134; RCV000768055; RCV000717814; RCV000768055; RCV000710183; RCV000173762; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,Med158986879389868793-CN169374 not specified;
NM_002693.2(POLG):c.1830C>T (p.Phe610=)5428POLGLikely benign771566653RCV000633573; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986880089868800-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1797A>T (p.Thr599=)5428POLGLikely benign-1RCV000758357; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986883389868833-
NM_002693.2(POLG):c.1795A>C (p.Thr599Pro)5428POLGUncertain significance1064796458RCV000633550; RCV000486915; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986883589868835-CN169374 not specified;
NM_002693.2(POLG):c.1790G>A (p.Arg597Gln)5428POLGConflicting interpretations of pathogenicity-1RCV000699074; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986884089868840-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1789C>T (p.Arg597Trp)5428POLGPathogenic/Likely pathogenic139717885RCV000758261; RCV000438492; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986884189868841-CN517202 not provided;
NM_002693.2(POLG):c.1789C>G (p.Arg597Gly)5428POLGLikely pathogenic-1RCV000758439; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986884189868841-
NM_002693.2(POLG):c.1763G>A (p.Gly588Asp)5428POLGConflicting interpretations of pathogenicity371334941RCV000557537; RCV000413337; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986886789868867-CN517202 not provided;
NM_002693.2(POLG):c.1761G>A (p.Pro587=)5428POLGConflicting interpretations of pathogenicity374805003RCV000758356; RCV000500619; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986886989868869-CN169374 not specified;
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu)5428POLGConflicting interpretations of pathogenicity113994096RCV000186576; RCV000415307; RCV000020473; RCV000014456; RCV000508752; RCV000408293; RCV000716826; RCV000427845; RCV000193529; NMedGen:C4225153,OMIM:258450; Human Phenotype Ontology:HP:0001263,MedGen:C0557874; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0751651, Orphanet:ORPHA68380; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype 158986887089868870OMIM Allelic Variant:174763.0011,UniProtKB (protein):P54098#VAR_023671C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
NM_002693.2(POLG):c.1752A>C (p.Ala584=)5428POLGLikely benign150929445RCV000556608; RCV000426564; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986887889868878-CN169374 not specified;
NM_002693.2(POLG):c.1752A>G (p.Ala584=)5428POLGLikely benign150929445RCV000537197; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986887889868878-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1743C>T (p.Asp581=)5428POLGConflicting interpretations of pathogenicity140743000RCV000382683; RCV000758355; RCV000715915; RCV000127565; NMedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN169374158986888789868887-CN169374 not specified;
NM_002693.2(POLG):c.1736G>A (p.Arg579Gln)5428POLGUncertain significance-1RCV000758295; RCV000718468; RCV000733389; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202158986889489868894-
NM_002693.2(POLG):c.1735C>T (p.Arg579Trp)5428POLGUncertain significance556925652RCV000544202; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986889589868895-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1723A>C (p.Lys575Gln)5428POLGUncertain significance1379482879RCV000531741; RCV000728094; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986890789868907-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1721G>A (p.Arg574Gln)5428POLGPathogenic-1RCV000758294; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986890989868909-
NM_002693.2(POLG):c.1713-4G>A5428POLGUncertain significance-1RCV000758293; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986892189868921-
NM_002693.2(POLG):c.1713-5C>T5428POLGBenign/Likely benign148494026RCV000758408; RCV000127564; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986892289868922-CN169374 not specified;
NM_002693.2(POLG):c.1713-31G>A5428POLGBenign-1RCV000758393; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986894889868948-
NM_002693.2(POLG):c.1713-32C>T5428POLGBenign-1RCV000758394; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986894989868949-
NM_002693.2(POLG):c.1712+10G>A5428POLGBenign/Likely benign55962804RCV000543278; RCV000127563; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986983389869833-CN169374 not specified;
NM_002693.2(POLG):c.1712+4A>C5428POLGUncertain significance1555453528RCV000555695; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986983989869839-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1684C>T (p.Arg562Trp)5428POLGUncertain significance-1RCV000758407; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986987189869871-
NM_002693.2(POLG):c.1674C>G (p.Leu558=)5428POLGBenign/Likely benign552085869RCV000758291; RCV000188552; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986988189869881-CN169374 not specified;
NM_002693.2(POLG):c.1672C>G (p.Leu558Val)5428POLGUncertain significance1411219168RCV000554779; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986988389869883-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1669G>C (p.Glu557Gln)5428POLGUncertain significance-1RCV000692784; RCV000728618; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986988689869886-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1648C>G (p.Gln550Glu)5428POLGUncertain significance1227630175RCV000758290; RCV000594852; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986990789869907-CN169374 not specified;
NM_002693.2(POLG):c.1640C>A (p.Ala547Asp)5428POLGUncertain significance-1RCV000758289; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986991589869915-
NM_002693.2(POLG):c.1639G>T (p.Ala547Ser)5428POLGUncertain significance-1RCV000758288; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986991689869916-
NM_002693.2(POLG):c.1638C>T (p.Arg546=)5428POLGLikely benign772461291RCV000542358; RCV000419859; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986991789869917-CN169374 not specified;
NM_002693.2(POLG):c.1636C>T (p.Arg546Cys)5428POLGBenign/Likely benign2307447RCV000020472; RCV000473794; RCV000715657; RCV000712787; RCV000127562; NMedGen:C0751651, Orphanet:ORPHA68380; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158986991989869919UniProtKB (protein):P54098#VAR_014906C0751651 Mitochondrial diseases;
NM_002693.2(POLG):c.1615_1623delTTTCAACAA (p.Phe539_Gln541del)5428POLGUncertain significance754586219RCV000662161; RCV000662162; RCV000662163; NMedGen:C1834846,OMIM:157640; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986993289869940-C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.1613A>C (p.Glu538Ala)5428POLGUncertain significance767216577RCV000525378; RCV000497705; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986994289869942-CN169374 not specified;
NM_002693.2(POLG):c.1590C>T (p.Leu530=)5428POLGLikely benign141422952RCV000541450; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986996589869965-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1586-5delC5428POLGBenign2307434RCV000466342; RCV000717665; RCV000180588; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN169374158986997489869974-CN169374 not specified;
NM_002693.2(POLG):c.1586-10A>G5428POLGLikely benign1060504038RCV000468752; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986997989869979-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1586-21T>G5428POLGLikely benign-1RCV000758505; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986999089869990-
NM_002693.2(POLG):c.1586-33_1586-31del5428POLGLikely benign-1RCV000758506; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987000089870002-
NM_002693.2(POLG):c.1585+32_1585+36dup5428POLGLikely benign-1RCV000758504; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987010789870111-
NM_002693.2(POLG):c.1585+18G>A5428POLGLikely benign-1RCV000758503; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987012589870125-
NM_002693.2(POLG):c.1585+11T>C5428POLGConflicting interpretations of pathogenicity201566815RCV000290628; RCV000758502; RCV000127561; NMedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158987013289870132-CN169374 not specified;
NM_002693.2(POLG):c.1570C>G (p.Pro524Ala)5428POLGUncertain significance577476988RCV000763994; RCV000763994; RCV000763994; RCV000763994; RCV000763994; RCV000763994; RCV000733058; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595; MedGen:CN517202158987015889870158-CN169374 not specified;
NM_002693.2:c.1562del5428POLGPathogenic-1RCV000758489; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987016689870166-
NM_002693.2(POLG):c.1550G>T (p.Gly517Val)5428POLGConflicting interpretations of pathogenicity61752783RCV000768289; RCV000186556; RCV000768289; RCV000768289; RCV000055881; RCV000229511; RCV000768289; RCV000716079; RCV000768289; RCV000223970; RCV000118011; NMedGen:C1834846,OMIM:157640; Human Phenotype Ontology:HP:0100595,MedGen:C0264162, Orphanet:ORPHA1320; MedGen:C4225153,OMIM:258450; MedGen:C3150914,OMIM:613662; MedGen:C0751651, Orphanet:ORPHA68380; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:204150158987017889870178HGMD:CM063063,UniProtKB (protein):P54098#VAR_058879C0264162 Camptocormia;
NM_002693.2(POLG):c.1498G>A (p.Ala500Thr)5428POLGUncertain significance745506700RCV000476974; RCV000484827; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987023089870230-CN169374 not specified;
NM_002693.2(POLG):c.1493A>C (p.Lys498Thr)5428POLGUncertain significance769637557RCV000758406; RCV000766611; RCV000188661; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158987023589870235-CN169374 not specified;
NM_002693.2(POLG):c.1491G>C (p.Gln497His)5428POLGUncertain significance121918052RCV000144870; RCV000014464; RCV000528996; RCV000676325; NMedGen:C0007959, Orphanet:ORPHA166,SNOMED CT:50548001; MedGen:C1843852; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987023789870237OMIM Allelic Variant:174763.0016,UniProtKB (protein):P54098#VAR_023669C0007959 Charcot-Marie-Tooth disease;
NM_002693.2(POLG):c.1452G>C (p.Trp484Cys)5428POLGUncertain significance-1RCV000758284; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987027689870276-
NM_002693.2(POLG):c.1434-27C>T5428POLGLikely benign-1RCV000758497; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987032189870321-
NM_002693.2(POLG):c.1434-32C>G5428POLGLikely benign-1RCV000758498; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987032689870326-
NM_002693.2(POLG):c.1434-45C>T5428POLGLikely benign-1RCV000758499; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987033989870339-
NM_002693.2(POLG):c.1433+1G>A5428POLGPathogenic771623994RCV000758422; RCV000359026; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987039789870397-CN517202 not provided;
NM_002693.2(POLG):c.1418T>C (p.Leu473Pro)5428POLGLikely pathogenic-1RCV000758283; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987041389870413-
NM_002693.2(POLG):c.1403A>G (p.Asn468Ser)5428POLGUncertain significance368614463RCV000528078; RCV000188696; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987042889870428-CN169374 not specified;
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp)5428POLGConflicting interpretations of pathogenicity145843073RCV000763995; RCV000763995; RCV000678827; RCV000763995; RCV000763995; RCV000470781; RCV000763995; RCV000717211; RCV000763995; RCV000658725; RCV000188659; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C0238111, Orphanet:ORPHA2382; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPH158987042989870429UniProtKB (protein):P54098#VAR_023668C0238111 Lennox-Gastaut syndrome;
NM_002693.2(POLG):c.1389G>C (p.Leu463Phe)5428POLGUncertain significance150828914RCV000476156; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987044289870442-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1386G>A (p.Ser462=)5428POLGConflicting interpretations of pathogenicity62640034RCV000402563; RCV000758496; RCV000725999; RCV000127560; NMedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158987044589870445-CN169374 not specified;
NM_002693.2(POLG):c.1385C>T (p.Ser462Leu)5428POLGUncertain significance762878459RCV000691141; RCV000188657; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987044689870446-CN169374 not specified;
NM_002693.2(POLG):c.1371G>C (p.Arg457=)5428POLGLikely benign-1RCV000758495; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987046089870460-
NM_002693.2(POLG):c.1370G>A (p.Arg457Gln)5428POLGUncertain significance-1RCV000699631; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987046189870461-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1369C>T (p.Arg457Trp)5428POLGUncertain significance766242100RCV000758282; RCV000188656; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987046289870462-CN169374 not specified;
NM_002693.2(POLG):c.1356T>C (p.Tyr452=)5428POLGConflicting interpretations of pathogenicity3176179RCV000535037; RCV000734331; RCV000420915; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158987047589870475-CN169374 not specified;
NM_002693.2(POLG):c.1349G>T (p.Gly450Val)5428POLGUncertain significance757804090RCV000558987; RCV000519409; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987048289870482-CN169374 not specified;
NM_002693.2(POLG):c.1345C>T (p.Gln449Ter)5428POLGPathogenic-1RCV000758273; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987048689870486-
NM_002693.2(POLG):c.1328G>A (p.Arg443His)5428POLGUncertain significance796052903RCV000763996; RCV000763996; RCV000763996; RCV000763996; RCV000763996; RCV000763996; RCV000188655; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595; MedGen:CN169374158987050389870503-CN169374 not specified;
NM_002693.2(POLG):c.1327C>T (p.Arg443Cys)5428POLGUncertain significance-1RCV000758437; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987050489870504-
NM_002693.2(POLG):c.1311C>T (p.Val437=)5428POLGBenign/Likely benign62640035RCV000758494; RCV000188549; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158987052089870520-CN169374 not specified;
NM_002693.2(POLG):c.1289T>C (p.Met430Thr)5428POLGPathogenic-1RCV000758436; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987054289870542-
NM_002693.2(POLG):c.1276G>A (p.Gly426Ser)5428POLGConflicting interpretations of pathogenicity775576189RCV000763997; RCV000763997; RCV000763997; RCV000763997; RCV000534104; RCV000763997; RCV000763997; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C184158987055589870555-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1275C>T (p.Ala425=)5428POLGConflicting interpretations of pathogenicity147404477RCV000558064; RCV000725687; RCV000127559; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158987055689870556-CN169374 not specified;
NM_002693.2(POLG):c.1270_1271delCT (p.Leu424Glyfs)5428POLGPathogenic796052908RCV000449589; RCV000449589; RCV000449589; RCV000758260; RCV000188674; NMedGen:C0014548,SNOMED CT:19598007; Human Phenotype Ontology:HP:0001263,MedGen:C0557874; Human Phenotype Ontology:HP:0001513,MedGen:C0028754,OMIM:601665, Orphanet:ORPHA71529,SNOMED CT:414916001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:204150158987056089870561-C0014548 Generalized epilepsy;
NM_002693.2(POLG):c.1262C>T (p.Pro421Leu)5428POLGUncertain significance752240321RCV000467695; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987056989870569-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1251G>A (p.Arg417=)5428POLGConflicting interpretations of pathogenicity-1RCV000758352; RCV000729608; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987058089870580-
NM_002693.2(POLG):c.1251-23del5428POLGLikely benign-1RCV000758353; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987060389870603-
NM_002693.2(POLG):c.1251-38G>C5428POLGLikely benign-1RCV000758354; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987061889870618-
NM_002693.2(POLG):c.1251-43C>T5428POLGLikely benign-1RCV000758543; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987062389870623-
NM_002693.2(POLG):c.1250+37G>T5428POLGLikely benign-1RCV000758351; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987165089871650-
NM_002693.2(POLG):c.1250+27_1250+28del5428POLGLikely benign-1RCV000758350; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987165989871660-
NM_002693.2(POLG):c.1250+12C>T5428POLGLikely benign-1RCV000758349; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987167589871675-
NM_002693.2(POLG):c.1250+5G>T5428POLGUncertain significance751221993RCV000471060; RCV000712786; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987168289871682-CN169374 not specified;
NM_002693.2(POLG):c.1229_1231delAGC (p.Gln410del)5428POLGUncertain significance765446994RCV000704825; RCV000523737; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987170689871708-CN169374 not specified;
NM_002693.2(POLG):c.1186T>C (p.Cys396Arg)5428POLGUncertain significance-1RCV000758434; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987175189871751-
NM_002693.2(POLG):c.1174C>G (p.Leu392Val)5428POLGConflicting interpretations of pathogenicity145289229RCV000515415; RCV000515415; RCV000515415; RCV000515415; RCV000475753; RCV000515415; RCV000720206; RCV000515415; RCV000710181; RCV000188651; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Pheno158987176389871763-C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.1171-18C>G5428POLGLikely benign-1RCV000758345; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987178489871784-
NM_002693.2(POLG):c.1171-24C>T5428POLGLikely benign-1RCV000758346; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987179089871790-
NM_002693.2(POLG):c.1171-30A>G5428POLGLikely benign-1RCV000758347; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987179689871796-
NM_002693.2(POLG):c.1171-37G>T5428POLGLikely benign-1RCV000758348; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987180389871803-
NM_002693.2(POLG):c.1170+9C>T5428POLGLikely benign-1RCV000758344; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987190789871907-
NM_002693.2(POLG):c.1157G>A (p.Arg386His)5428POLGUncertain significance1394411503RCV000633557; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987192989871929-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1156C>T (p.Arg386Cys)5428POLGConflicting interpretations of pathogenicity199759055RCV000660573; RCV000660573; RCV000758259; RCV000660573; RCV000188650; NMedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595; MedGen:CN517202158987193089871930-C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NM_002693.2(POLG):c.1149G>A (p.Lys383=)5428POLGLikely benign767256165RCV000758343; RCV000253594; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158987193789871937-CN169374 not specified;
NM_002693.2(POLG):c.1126C>T (p.Leu376=)5428POLGBenign/Likely benign116165908RCV000473863; RCV000720326; RCV000127558; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN169374158987196089871960-CN169374 not specified;
NM_002693.2(POLG):c.1120C>T (p.Arg374Ter)5428POLGPathogenic-1RCV000758414; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987196689871966-
NM_002693.2(POLG):c.1094G>C (p.Gly365Ala)5428POLGUncertain significance-1RCV000695008; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987199289871992-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1084C>G (p.Leu362Val)5428POLGUncertain significance-1RCV000758433; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987200289872002-
NM_002693.2(POLG):c.1066C>T (p.Leu356=)5428POLGConflicting interpretations of pathogenicity371431444RCV000476514; RCV000726665; RCV000127557; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158987202089872020-CN169374 not specified;
NM_002693.2(POLG):c.1056T>C (p.Ser352=)5428POLGLikely benign-1RCV000758342; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987203089872030-
NM_002693.2(POLG):c.1024-24A>G5428POLGLikely benign-1RCV000758340; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987208689872086-
NM_002693.2(POLG):c.1024-38C>T5428POLGBenign-1RCV000758542; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987210089872100-
NM_002693.2(POLG):c.1024-44C>T5428POLGLikely benign-1RCV000758341; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987210689872106-
NM_002693.2(POLG):c.1023+17G>C5428POLGLikely benign-1RCV000758493; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987215789872157-
NM_002693.2(POLG):c.1023+10C>T5428POLGLikely benign-1RCV000758492; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987216489872164-
NM_002693.2(POLG):c.1001G>A (p.Arg334Lys)5428POLGUncertain significance776437525RCV000474734; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987219689872196-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.975C>G (p.Pro325=)5428POLGLikely benign-1RCV000758541; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987222289872222-
NM_002693.2(POLG):c.970C>T (p.Pro324Ser)5428POLGConflicting interpretations of pathogenicity2307437RCV000020485; RCV000468571; RCV000710190; RCV000127555; NMedGen:C0751651, Orphanet:ORPHA68380; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158987222789872227UniProtKB (protein):P54098#VAR_014905C0751651 Mitochondrial diseases;
NM_002693.2(POLG):c.970C>A (p.Pro324Thr)5428POLGConflicting interpretations of pathogenicity2307437RCV000701310; RCV000195076; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158987222789872227-CN169374 not specified;
NM_002693.2(POLG):c.955A>G (p.Lys319Glu)5428POLGLikely pathogenic-1RCV000758272; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987224289872242-
NM_002693.2(POLG):c.948G>A (p.Lys316=)5428POLGBenign/Likely benign61756401RCV000459441; RCV000716124; RCV000433050; RCV000118023; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158987224989872249HGMD:CM133443CN517202 not provided;
NM_002693.2(POLG):c.915C>G (p.Ser305Arg)5428POLGPathogenic/Likely pathogenic769410130RCV000758271; RCV000188649; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987228289872282-CN517202 not provided;
NM_002693.2(POLG):c.911T>G (p.Leu304Arg)5428POLGPathogenic/Likely pathogenic121918044RCV000762954; RCV000014444; RCV000762954; RCV000762954; RCV000762954; RCV000626287; RCV000762954; RCV000762954; RCV000188648; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SN158987228689872286OMIM Allelic Variant:174763.0003,UniProtKB (protein):P54098#VAR_012154C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
NM_002693.2(POLG):c.862C>T (p.Arg288Cys)5428POLGUncertain significance564582352RCV000768290; RCV000768290; RCV000768290; RCV000768290; RCV000768290; RCV000188646; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595; MedGen:CN517202158987233589872335-CN169374 not specified;
NM_002693.2(POLG):c.856-5_856-3delCTC5428POLGBenign/Likely benign200056162RCV000531039; RCV000676326; RCV000188547; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158987234489872346-CN517202 not provided;
NM_002693.2(POLG):c.855+19A>G5428POLGLikely benign-1RCV000758540; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987329389873293-
NM_002693.2(POLG):c.855+16C>A5428POLGLikely benign-1RCV000758539; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987329689873296-
NM_002693.2(POLG):c.855G>C (p.Gln285His)5428POLGConflicting interpretations of pathogenicity141367015RCV000758410; RCV000188644; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987331289873312-CN517202 not provided;
NM_002693.2(POLG):c.852C>T (p.Ile284=)5428POLGBenign/Likely benign41540414RCV000471756; RCV000716819; RCV000127553; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN169374158987331589873315-CN169374 not specified;
NM_002693.2(POLG):c.830A>T (p.His277Leu)5428POLGConflicting interpretations of pathogenicity138929605RCV000616176; RCV000396333; RCV000231645; RCV000188643; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987333789873337-C0342782 Mitochondrial DNA depletion syndrome;
NM_002693.2(POLG):c.824G>A (p.Arg275Gln)5428POLGUncertain significance-1RCV000758488; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987334389873343-
NM_002693.2(POLG):c.803G>C (p.Gly268Ala)5428POLGConflicting interpretations of pathogenicity61752784RCV000768291; RCV000768291; RCV000768291; RCV000709833; RCV000233823; RCV000768291; RCV000715855; RCV000768291; RCV000415771; RCV000177165; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C3150914,OMIM:613662; na; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,158987336489873364UniProtKB (protein):P54098#VAR_058873CN517202 not provided;
NM_002693.2(POLG):c.799G>C (p.Val267Leu)5428POLGLikely benign-1RCV000758486; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987336889873368-
NM_002693.2(POLG):c.798G>T (p.Val266=)5428POLGConflicting interpretations of pathogenicity143631183RCV000297854; RCV000554937; RCV000720332; RCV000723862; RCV000186652; NMedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158987336989873369-CN169374 not specified;
NM_002693.2(POLG):c.753T>A (p.Thr251=)5428POLGLikely benign-1RCV000758538; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987341489873414-
NM_002693.2(POLG):c.752C>T (p.Thr251Ile)5428POLGConflicting interpretations of pathogenicity113994094RCV000014447; RCV000415105; RCV000020484; RCV000014448; RCV000262479; RCV000184009; RCV000716828; RCV000188641; RCV000194055; NMedGen:C4225153,OMIM:258450; Human Phenotype Ontology:HP:0001263,MedGen:C0557874; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,158987341589873415OMIM Allelic Variant:174763.0007,UniProtKB (protein):P54098#VAR_023664C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
NM_002693.2(POLG):c.744G>C (p.Glu248Asp)5428POLGUncertain significance753407311RCV000542477; RCV000498616; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987342389873423-CN169374 not specified;
NM_002693.2(POLG):c.729C>A (p.Asp243Glu)5428POLGUncertain significance757917194RCV000763998; RCV000763998; RCV000763998; RCV000763998; RCV000758485; RCV000763998; RCV000763998; RCV000523877; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C184158987343889873438-CN169374 not specified;
NM_002693.2(POLG):c.705G>A (p.Trp235Ter)5428POLGPathogenic-1RCV000758270; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987346289873462-
NM_002693.2(POLG):c.698dup (p.Tyr233Terfs)5428POLGPathogenic-1RCV000758432; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987346989873469-
NM_002693.2(POLG):c.679C>T (p.Arg227Trp)5428POLGPathogenic121918056RCV000014469; RCV000525480; RCV000255169; NMedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987348889873488OMIM Allelic Variant:174763.0021,UniProtKB (protein):P54098#VAR_023663C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NM_002693.2(POLG):c.678G>C (p.Gln226His)5428POLGConflicting interpretations of pathogenicity147282197RCV000678826; RCV000633538; RCV000678826; RCV000710188; Nna; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202158987348989873489-CN169374 not specified;
NM_002693.2(POLG):c.660-29T>C5428POLGLikely benign-1RCV000758537; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987353689873536-
NM_002693.2(POLG):c.660-46G>A5428POLGBenign-1RCV000758404; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987355389873553-
NM_002693.2(POLG):c.659+11G>T5428POLGBenign3087379RCV000758403; RCV000188545; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158987631689876316-CN169374 not specified;
NM_002693.2(POLG):c.659G>C (p.Trp220Ser)5428POLGUncertain significance1004988362RCV000466281; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987632789876327-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.653C>T (p.Ser218Leu)5428POLGUncertain significance1060500775RCV000471830; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987633389876333-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.646delT (p.Ser216Profs)5428POLGPathogenic-1RCV000688138; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987634089876340-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.641C>T (p.Ala214Val)5428POLGUncertain significance948866053RCV000550484; RCV000550484; RCV000459940; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C0751964,SNOMED CT:428700003; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987634589876345-C0342782 Mitochondrial DNA depletion syndrome;
NM_002693.2(POLG):c.635C>T (p.Ala212Val)5428POLGUncertain significance-1RCV000758483; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987635189876351-
NM_002693.2(POLG):c.611C>G (p.Ala204Gly)5428POLGUncertain significance-1RCV000758482; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987637589876375-
NM_002693.2(POLG):c.602T>G (p.Val201Gly)5428POLGUncertain significance750928338RCV000549492; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987638489876384-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.578G>A (p.Arg193Gln)5428POLGConflicting interpretations of pathogenicity3176162RCV000020482; RCV000541557; RCV000717685; RCV000724388; RCV000188543; NMedGen:C0751651, Orphanet:ORPHA68380; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158987640889876408UniProtKB (protein):P54098#VAR_019267C0751651 Mitochondrial diseases;
NM_002693.2(POLG):c.538C>T (p.Pro180Ser)5428POLGUncertain significance-1RCV000758481; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987644889876448-
NM_002693.2(POLG):c.528C>T (p.Thr176=)5428POLGLikely benign-1RCV000758392; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987645889876458-
NM_002693.2(POLG):c.516G>A (p.Ala172=)5428POLGLikely benign-1RCV000758391; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987647089876470-
NM_002693.2(POLG):c.488C>T (p.Pro163Leu)5428POLGConflicting interpretations of pathogenicity752892262RCV000633534; RCV000188636; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987649889876498-CN517202 not provided;
NM_002693.2(POLG):c.470T>C (p.Leu157Pro)5428POLGLikely pathogenic-1RCV000758480; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987651689876516-
NM_002693.2(POLG):c.460G>A (p.Ala154Thr)5428POLGUncertain significance753858440RCV000661981; RCV000661980; RCV000692834; RCV000720704; RCV000188635; NMedGen:C1834846,OMIM:157640; MedGen:C4551995,OMIM:603041; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202158987652689876526-C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.431A>G (p.Gln144Arg)5428POLGUncertain significance-1RCV000758339; RCV000715504; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572158987655589876555-
NM_002693.2(POLG):c.428C>T (p.Ala143Val)5428POLGPathogenic796052899RCV000758269; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987655889876558-
NM_002693.2(POLG):c.418C>T (p.Arg140Cys)5428POLGUncertain significance761248036RCV000703722; RCV000728691; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987656889876568-CN169374 not specified;
NM_002693.2(POLG):c.408C>G (p.Asp136Glu)5428POLGConflicting interpretations of pathogenicity115109291RCV000758561; RCV000514076; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987657889876578-CN517202 not provided;
NM_002693.2(POLG):c.398A>G (p.Asp133Gly)5428POLGUncertain significance540905618RCV000524560; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987658889876588-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.395G>A (p.Gly132Glu)5428POLGUncertain significance1060500774RCV000466430; RCV000658267; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987659189876591-CN517202 not provided;
NM_002693.2(POLG):c.391T>C (p.Tyr131His)5428POLGConflicting interpretations of pathogenicity562847013RCV000578205; RCV000578205; RCV000469850; RCV000726559; RCV000188542; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C0751964,SNOMED CT:428700003; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158987659589876595-C0342782 Mitochondrial DNA depletion syndrome;
NM_002693.2(POLG):c.388C>T (p.Leu130Phe)5428POLGUncertain significance-1RCV000706965; RCV000712807; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987659889876598-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.384G>T (p.Pro128=)5428POLGLikely benign558958919RCV000758390; RCV000427763; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158987660289876602-CN169374 not specified;
NM_002693.2(POLG):c.360G>T (p.Leu120Phe)5428POLGUncertain significance886043905RCV000693003; RCV000376637; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987662689876626-CN169374 not specified;
NM_002693.2(POLG):c.347C>G (p.Pro116Arg)5428POLGUncertain significance-1RCV000758477; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987663989876639-
NM_002693.2(POLG):c.333G>T (p.Gly111=)5428POLGLikely benign56221189RCV000460499; RCV000616864; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158987665389876653-CN169374 not specified;
NM_002693.2(POLG):c.330C>T (p.His110=)5428POLGConflicting interpretations of pathogenicity376266682RCV000540376; RCV000591767; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987665689876656-CN169374 not specified;
NM_002693.2(POLG):c.328C>T (p.His110Tyr)5428POLGConflicting interpretations of pathogenicity139599587RCV000768048; RCV000768048; RCV000768048; RCV000461638; RCV000768048; RCV000720040; RCV000768048; RCV000727081; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,Med158987665889876658-CN169374 not specified;
NM_002693.2(POLG):c.264C>T (p.Phe88=)5428POLGBenign/Likely benign144439703RCV000227341; RCV000718381; RCV000436920; RCV000118014; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158987672289876722-CN517202 not provided;
NM_002693.2(POLG):c.264C>G (p.Phe88Leu)5428POLGConflicting interpretations of pathogenicity144439703RCV000693072; RCV000431950; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987672289876722-CN517202 not provided;
NM_002693.2(POLG):c.260T>C (p.Ile87Thr)5428POLGUncertain significance-1RCV000709970; RCV000709970; RCV000709970; RCV000709970; RCV000716139; RCV000709970; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595158987672689876726-
NM_002693.2(POLG):c.248T>C (p.Leu83Pro)5428POLGLikely pathogenic-1RCV000758448; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987673889876738-
NM_002693.2(POLG):c.237C>T (p.Leu79=)5428POLGLikely benign774537232RCV000458496; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987674989876749-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.210G>T (p.Arg70=)5428POLGLikely benign-1RCV000758513; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987677689876776-
NM_002693.2(POLG):c.202C>T (p.Gln68Ter)5428POLGPathogenic202039305RCV000758262; RCV000296330; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987678489876784-CN517202 not provided;
NM_002693.2(POLG):c.191C>G (p.Ser64Trp)5428POLGUncertain significance-1RCV000758444; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987679589876795-
NM_002693.2(POLG):c.186A>G (p.Leu62=)5428POLGConflicting interpretations of pathogenicity745310138RCV000758358; RCV000726830; RCV000430607; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158987680089876800-CN169374 not specified;
NM_002693.2(POLG):c.167C>G (p.Pro56Arg)5428POLGUncertain significance1022612492RCV000530802; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987681989876819-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.158_166delAACAGCAGC (p.Gln53_Gln55del)5428POLGLikely benign769735492RCV000633570; RCV000597328; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158987682089876828-CN169374 not specified;
NM_002693.2(POLG):c.158_166dup (p.Gln55_Pro56insGlnGlnGln)5428POLGUncertain significance769735492RCV000633556; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987682089876828-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.143_166dup (p.Gln55_Pro56insGlnGlnGlnGlnGlnGlnGlnGln)5428POLGUncertain significance1555454325RCV000633560; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987682089876843-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.159A>G (p.Gln53=)5428POLGBenign/Likely benign587781118RCV000758507; RCV000676328; RCV000127542; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158987682789876827-CN517202 not provided;
NM_002693.2(POLG):c.159A>T (p.Gln53His)5428POLGUncertain significance-1RCV000758287; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987682789876827-
NM_002693.2(POLG):c.156_158delGCA (p.Gln55del)5428POLGBenign41550117RCV000462442; RCV000717142; RCV000676329; RCV000153755; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158987682889876830-CN517202 not provided;
NM_002693.2(POLG):c.156_158dupGCA (p.Gln55_Pro56insGln)5428POLGBenign/Likely benign41550117RCV000714693; RCV000758545; RCV000715379; RCV000676330; RCV000153756; NMedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158987682889876830-CN517202 not provided;
NM_002693.2(POLG):c.153_158delGCAGCA (p.Gln54_Gln55del)5428POLGBenign/Likely benign41550117RCV000232830; RCV000715231; RCV000676331; RCV000153757; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158987682889876833-CN517202 not provided;
NM_002693.2(POLG):c.153_158dupGCAGCA (p.Gln55_Pro56insGlnGln)5428POLGBenign/Likely benign41550117RCV000226737; RCV000715953; RCV000514102; RCV000188534; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158987682889876833-CN517202 not provided;
NM_002693.2(POLG):c.150_158delGCAGCAGCA (p.Gln53_Gln55del)5428POLGBenign/Likely benign41550117RCV000456895; RCV000720046; RCV000188531; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN169374158987682889876836-CN169374 not specified;
NM_002693.2(POLG):c.150_158dupGCAGCAGCA (p.Gln55_Pro56insGlnGlnGln)5428POLGBenign/Likely benign41550117RCV000458627; RCV000716182; RCV000224549; RCV000188532; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158987682889876836-CN517202 not provided;
NM_002693.2(POLG):c.147_158delGCAGCAGCAGCA (p.Gln52_Gln55del)5428POLGBenign/Likely benign41550117RCV000456165; RCV000720236; RCV000188530; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN169374158987682889876839-CN169374 not specified;
NM_002693.2(POLG):c.144_158delGCAGCAGCAGCAGCA (p.Gln51_Gln55del)5428POLGConflicting interpretations of pathogenicity41550117RCV000633535; RCV000188529; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158987682889876842-CN169374 not specified;
NM_002693.2(POLG):c.141_158delGCAGCAGCAGCAGCAGCA (p.Gln50_Gln55del)5428POLGLikely benign41550117RCV000230040; RCV000188528; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158987682889876845-
NM_002693.2(POLG):c.144_158dupGCAGCAGCAGCAGCA (p.Gln55_Pro56insGlnGlnGlnGlnGln)5428POLGConflicting interpretations of pathogenicity41550117RCV000540524; RCV000485219; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158987682889876842-CN169374 not specified;
NM_002693.2(POLG):c.147_158dup (p.Gln55_Pro56insGlnGlnGlnGln)5428POLGConflicting interpretations of pathogenicity41550117RCV000548452; RCV000610037; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158987682889876839-CN169374 not specified;
NM_002693.2(POLG):c.158A>C (p.Gln53Pro)5428POLGUncertain significance-1RCV000758286; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987682889876828-
NM_002693.2(POLG):c.154C>A (p.Gln52Lys)5428POLGConflicting interpretations of pathogenicity376683989RCV000758285; RCV000188535; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158987683289876832-CN169374 not specified;
NM_002693.2(POLG):c.153G>A (p.Gln51=)5428POLGBenign1453538834RCV000758501; RCV000676332; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987683389876833-CN517202 not provided;
NM_002693.2(POLG):c.150G>A (p.Gln50=)5428POLGBenign/Likely benign766501874RCV000758500; RCV000417540; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158987683689876836-CN169374 not specified;
NM_002693.2(POLG):c.125_139dupGGCAGCAGCAGCAGC (p.Gln46_Gln47insArgGlnGlnGlnGln)5428POLGUncertain significance1064795354RCV000758435; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987684789876861-CN169374 not specified;
NM_002693.2(POLG):c.125_139delGGCAGCAGCAGCAGC (p.Arg42_Gln46del)5428POLGUncertain significance-1RCV000705186; RCV000727691; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987684789876861-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.137A>G (p.Gln46Arg)5428POLGConflicting interpretations of pathogenicity1555454339RCV000758405; RCV000596845; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987684989876849-CN169374 not specified;
NM_002693.2(POLG):c.134_137delAGCAinsG (p.Gln45_Gln46delinsArg)5428POLGUncertain significance-1RCV000704124; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987684989876852-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.134A>G (p.Gln45Arg)5428POLGLikely benign201016638RCV000461738; RCV000716809; RCV000710182; RCV000175733; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158987685289876852-CN169374 not specified;
NM_002693.2(POLG):c.131_132insGCG (p.Gln44_Gln45insArg)5428POLGLikely benign-1RCV000758438; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987685289876853-
NM_002693.2(POLG):c.131A>G (p.Gln44Arg)5428POLGConflicting interpretations of pathogenicity757120802RCV000551143; RCV000724683; RCV000175731; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158987685589876855-CN169374 not specified;
NM_002693.2(POLG):c.128A>G (p.Gln43Arg)5428POLGBenign28567406RCV000461596; RCV000716279; RCV000676333; RCV000118010; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158987685889876858-CN517202 not provided;
NM_002693.2(POLG):c.125_127dupGGC (p.Arg42_Gln43insArg)5428POLGConflicting interpretations of pathogenicity761080016RCV000633565; RCV000224767; RCV000482202; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158987685989876861-CN517202 not provided;
NM_002693.2(POLG):c.125G>A (p.Arg42Gln)5428POLGConflicting interpretations of pathogenicity74382477RCV000545670; RCV000676334; RCV000188525; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158987686189876861-CN517202 not provided;
NM_002693.2(POLG):c.112G>C (p.Gly38Arg)5428POLGUncertain significance-1RCV000700618; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987687489876874-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.82A>T (p.Ser28Cys)5428POLGLikely benign-1RCV000758487; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987690489876904-
NM_002693.2(POLG):c.70C>T (p.Arg24Cys)5428POLGUncertain significance-1RCV000758484; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987691689876916-
NM_002693.2(POLG):c.60A>C (p.Pro20=)5428POLGLikely benign-1RCV000758536; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987692689876926-
NM_002693.2(POLG):c.54G>C (p.Pro18=)5428POLGLikely benign1378670216RCV000633567; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987693289876932-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.32G>A (p.Gly11Asp)5428POLGConflicting interpretations of pathogenicity765472726RCV000763999; RCV000763999; RCV000763999; RCV000763999; RCV000633544; RCV000763999; RCV000763999; RCV000724132; RCV000175734; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C184158987695489876954-CN169374 not specified;
NM_002693.2(POLG):c.32G>T (p.Gly11Val)5428POLGUncertain significance765472726RCV000532508; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987695489876954-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.31G>A (p.Gly11Ser)5428POLGLikely benign-1RCV000758320; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987695589876955-
NM_002693.2(POLG):c.30C>T (p.Ala10=)5428POLGLikely benign1060504037RCV000476036; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987695689876956-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.29C>T (p.Ala10Val)5428POLGUncertain significance774459114RCV000537593; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987695789876957-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.17G>C (p.Trp6Ser)5428POLGUncertain significance1057524249RCV000758292; RCV000443728; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987696989876969-CN169374 not specified;
NM_002693.2(POLG):c.15C>G (p.Leu5=)5428POLGLikely benign892999189RCV000553911; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987697189876971-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.1A>G (p.Met1Val)5428POLGUncertain significance201786897RCV000633552; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987698589876985-C0205710 203700 Progressive sclerosing poliodystrophy;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000140521 MSeqDR Search EnsemblPOLG15542polymerase (DNA directed), gamma [Source:HGNC Symbol;Acc:9179]00032

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