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:  Delayed development (evidence of at least one of A through F)
22 HP:0001263Global developmental delay
NAMDC:  Mental retardation
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;
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_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.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.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.3667A>G (p.Ile1223Val)5428POLGUncertain significance148786642RCV000548544; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986003589860035-C0205710 203700 Progressive sclerosing poliodystrophy;
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.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.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.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.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.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 pathogenicity55779802RCV000316461; RCV000559092; RCV000726414; RCV000127539; NMedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986176689861766-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.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.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; RCV000127538; NMedGen:C0751651, Orphanet:ORPHA68380; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986181889861818UniProtKB (protein):P54098#VAR_014910C0751651 Mitochondrial diseases;
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.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.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=)5428POLGLikely benign2307445RCV000633563; RCV000431112; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986184989861849-CN169374 not specified;
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:CN169374158986190889861908-CN169374 not specified;
NM_002693.2(POLG):c.3323A>T (p.Tyr1108Phe)5428POLGUncertain significance765949668RCV000633541; RCV000188524; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986193189861931-CN169374 not specified;
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.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.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.3273+6T>A5428POLGUncertain significance886051522RCV000281171; RCV000460872; NMedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986215689862156-CN239393 POLG-Related Spectrum Disorders;
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:CN169374158986222089862220-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 significance201192905RCV000633540; RCV000723977; RCV000188605; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986225989862259-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:CN169374158986225989862259-CN169374 not specified;
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)5428POLGUncertain significance-1RCV000685758; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986228489862284-C0205710 203700 Progressive sclerosing poliodystrophy;
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; RCV000188602; 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.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.3098C>T (p.Ala1033Val)5428POLGUncertain significance551708243RCV000660574; RCV000551001; RCV000660574; RCV000660574; RCV000710186; RCV000188519; 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:CN517202; MedGen:CN169374158986246589862465-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:CN169374158986248689862486-CN169374 not specified;
NM_002693.2(POLG):c.3075G>A (p.Leu1025=)5428POLGLikely benign146404260RCV000230283; RCV000432604; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986248889862488-CN169374 not specified;
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.3037G>T (p.Asp1013Tyr)5428POLGUncertain significance1307399071RCV000633536; RCV000497709; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986252689862526-CN169374 not specified;
NM_002693.2(POLG):c.3017G>A (p.Arg1006Lys)5428POLGUncertain significance142732551RCV000704540; RCV000188518; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986254689862546-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:CN169374158986255489862554-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.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; RCV000188598; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986257689862576-CN169374 not specified;
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.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.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.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.2830G>A (p.Glu944Lys)5428POLGConflicting interpretations of pathogenicity768653086RCV000633532; RCV000188589; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986414889864148-CN517202 not provided;
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.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.2727C>T (p.Gly909=)5428POLGUncertain significance752611524RCV000459424; RCV000428928; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986436389864363-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.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)5428POLGUncertain significance878854560RCV000227514; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986442789864427-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.2(POLG):c.2642C>T (p.Pro881Leu)5428POLGUncertain significance375935084RCV000690021; RCV000734714; RCV000188677; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986444889864448-CN169374 not specified;
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.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.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.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.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.2554C>T (p.Arg852Cys)5428POLGPathogenic144500145RCV000633537; RCV000188581; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158986501189865011-CN517202 not provided;
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.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.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.2480+5G>C5428POLGUncertain significance1229969606RCV000559664; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986518889865188-C0205710 203700 Progressive sclerosing poliodystrophy;
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.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.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; RCV000235201; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158986603089866030-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)5428POLGUncertain significance1003442806RCV000530237; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986610689866106-C0205710 203700 Progressive sclerosing poliodystrophy;
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.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.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 pathogenicity121918054RCV000014467; RCV000190616; RCV000174520; RCV000508744; RCV000370280; RCV000233045; RCV000720676; RCV000188568; NMedGen:C4225153,OMIM:258450; MedGen:CN924917, Orphanet:ORPHA663; MedGen:C3150914,OMIM:613662; MedGen:C0751651, Orphanet:ORPHA68380; MedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C00158986669189866691OMIM 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.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.2152G>T (p.Ala718Ser)5428POLGUncertain significance755783536RCV000529308; RCV000729971; RCV000498982; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986705189867051-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.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.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.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 significance776848222RCV000528399; RCV000732287; RCV000188560; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986711889867118-CN169374 not specified;
NM_002693.2(POLG):c.2069C>T (p.Thr690Met)5428POLGUncertain significance-1RCV000703278; RCV000718216; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572158986733989867339-C0205710 203700 Progressive sclerosing poliodystrophy;
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.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)5428POLGUncertain significance376306906RCV000552401; RCV000733276; RCV000522429; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158986738189867381-CN169374 not specified;
NM_002693.2(POLG):c.2021G>A (p.Gly674Asp)5428POLGConflicting interpretations of pathogenicity200257554RCV000633561; RCV000720525; RCV000188510; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN169374158986738789867387-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;
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+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.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.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>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 significance754245040RCV000550612; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986874889868748-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.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.1837C>T (p.His613Tyr)5428POLGConflicting interpretations of pathogenicity147407423RCV000538134; RCV000717814; RCV000710183; RCV000173762; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158986879389868793-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.1795A>C (p.Thr599Pro)5428POLGUncertain significance1064796458RCV000633550; RCV000486915; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158986883589868835-CN169374 not specified;
NM_002693.2(POLG):c.1790G>A (p.Arg597Gln)5428POLGUncertain significance-1RCV000699074; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986884089868840-C0205710 203700 Progressive sclerosing poliodystrophy;
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.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.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.1712+10G>A5428POLGBenign55962804RCV000543278; 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.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.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:CN169374158986994289869942-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.1550G>T (p.Gly517Val)5428POLGConflicting interpretations of pathogenicity61752783RCV000186556; RCV000055881; RCV000229511; RCV000716079; RCV000223970; RCV000118011; NHuman Phenotype Ontology:HP:0100595,MedGen:C0264162, Orphanet:ORPHA1320; MedGen:C0751651, Orphanet:ORPHA68380; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN1693158987017889870178HGMD: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:CN169374158987023089870230-CN169374 not specified;
NM_002693.2(POLG):c.1491G>C (p.Gln497His)5428POLGUncertain significance121918052RCV000144870; RCV000014464; RCV000528996; RCV000676325; RCV000188660; NMedGen:C0007959, Orphanet:ORPHA166,SNOMED CT:50548001; MedGen:C1843852; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158987023789870237OMIM Allelic Variant:174763.0016,UniProtKB (protein):P54098#VAR_023669C0007959 Charcot-Marie-Tooth disease;
NM_002693.2(POLG):c.1403A>G (p.Asn468Ser)5428POLGUncertain significance368614463RCV000528078; RCV000188696; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158987042889870428-CN169374 not specified;
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp)5428POLGUncertain significance145843073RCV000678827; RCV000470781; RCV000717211; RCV000658725; RCV000188659; NMedGen:C0238111, Orphanet:ORPHA2382; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158987042989870429UniProtKB (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.1385C>T (p.Ser462Leu)5428POLGUncertain significance762878459RCV000691141; RCV000188657; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158987044689870446-CN169374 not specified;
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.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:CN169374158987048289870482-CN169374 not specified;
NM_002693.2(POLG):c.1276G>A (p.Gly426Ser)5428POLGUncertain significance775576189RCV000534104; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158987055589870555-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.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.1250+5G>T5428POLGUncertain significance751221993RCV000471060; RCV000712786; RCV000188652; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158987168289871682-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:CN169374158987170689871708-CN169374 not specified;
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.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; RCV000660573; RCV000188650; NMedGen:C3150914,OMIM:613662; 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.1126C>T (p.Leu376=)5428POLGBenign116165908RCV000473863; 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.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.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.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.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.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.911T>G (p.Leu304Arg)5428POLGPathogenic/Likely pathogenic121918044RCV000014444; RCV000626287; RCV000188648; NMedGen:C4225153,OMIM:258450; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202158987228689872286OMIM Allelic Variant:174763.0003,UniProtKB (protein):P54098#VAR_012154C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
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.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; RCV000505701; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158987333789873337-C0342782 Mitochondrial DNA depletion syndrome;
NM_002693.2(POLG):c.803G>C (p.Gly268Ala)5428POLGConflicting interpretations of pathogenicity61752784RCV000709833; RCV000233823; RCV000715855; RCV000415771; RCV000177165; Nna; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158987336489873364UniProtKB (protein):P54098#VAR_058873CN517202 not provided;
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.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:CN169374158987342389873423-CN169374 not specified;
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)5428POLGUncertain significance147282197RCV000678826; RCV000633538; RCV000678826; RCV000710188; RCV000188639; Nna; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158987348989873489-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.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.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.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:CN169374158987652689876526-C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.418C>T (p.Arg140Cys)5428POLGUncertain significance761248036RCV000703722; RCV000728691; RCV000188687; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158987656889876568-CN169374 not specified;
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)5428POLGUncertain significance562847013RCV000578205; 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.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.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)5428POLGUncertain significance139599587RCV000461638; RCV000720040; RCV000727081; RCV000188685; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158987665889876658-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.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.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.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.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_158del18 (p.Gln50_Gln55del)5428POLGLikely benign41550117RCV000230040; RCV000188528; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN169374158987682889876845-CN169374 not specified;
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.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.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.131A>G (p.Gln44Arg)5428POLGUncertain significance757120802RCV000551143; 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.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)5428POLGUncertain significance765472726RCV000633544; RCV000724132; RCV000175734; NMedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:CN517202; MedGen:CN169374158987695489876954-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.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.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 EnsemblPOLG15237polymerase (DNA directed), gamma [Source:HGNC Symbol;Acc:9179]00032

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