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inherited neurodegenerative disorder (MONDO:0024237)
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mitochondrial disease with epilepsy (MONDO:0016402)
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mitochondrial DNA depletion syndrome, hepatocerebral form (MONDO:0016808)
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neurometabolic disease (MONDO:0019058)
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mitochondrial DNA depletion syndrome 4a ()

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..expand2-methylbutyryl-CoA dehydrogenase deficiency ()
..expand3-hydroxyisobutyryl-CoA hydrolase deficiency ()
..expand3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ()  LSDB  L: 00484;
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..expandcombined oxidative phosphorylation defect type 11 ()  LSDB  L: 00423;
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..expandcongenital ichthyosis-intellectual disability-spastic quadriplegia syndrome ()
..expandcongenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ()
..expanddopamine beta-hydroxylase deficiency ()
..expandencephalopathy due to GLUT1 deficiency ()
..expandencephalopathy due to hydroxykynureninuria ()
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..expandfamilial isolated deficiency of vitamin E ()
..expandFarber lipogranulomatosis ()
..expandFriedreich ataxia ()  LSDB  L: 00491;
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..expandGABA aminotransferase deficiency ()
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..expandhypermethioninemia due to adenosine kinase deficiency ()
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..expandinfantile cerebellar-retinal degeneration ()  LSDB  L: 00108;
..expandKearns-Sayre syndrome ()  LSDB  L: 00143;
..expandKrabbe disease ()
..expandlethal encephalopathy due to mitochondrial and peroxisomal fission defect ()  LSDB  L: 00014;
..expandMELAS syndrome ()  LSDB  L: 00163;
..expandMERRF syndrome ()  LSDB  L: 00162;
..expandmethionine adenosyltransferase deficiency ()
..expandmitochondrial DNA depletion syndrome 4a ()  LSDB  L: 00032;
..expandmitochondrial pyruvate carrier deficiency ()  LSDB  L: 00041;
..expandmucopolysaccharidosis type 1 ()
..expandmucosulfatidosis ()
..expandNARP syndrome ()  LSDB  L: 00168;
..expandneurological conditions associated with aminoacylase 1 deficiency ()
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..expandoxoglutaricaciduria ()
..expandphenylketonuria ()
..expandprolidase deficiency ()
..expandpyridoxal phosphate-responsive seizures ()
..expandpyridoxine-dependent epilepsy ()
..expandsevere X-linked mitochondrial encephalomyopathy ()  LSDB  L: 00411;
..expandSjogren-Larsson syndrome ()
..expandsuccinic semialdehyde dehydrogenase deficiency ()
..expandTangier disease ()
..expandtriosephosphate isomerase deficiency ()
..expandurocanic aciduria (disease) ()
..expandWilson disease ()
   

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Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8758
Name:mitochondrial DNA depletion syndrome 4a
Definition:Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome (see this term) characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.
Alternative IDs:203700
ParentIDs:
TreeNumbers:
Synonyms:AHD; AHS; Alper syndrome; Alper's syndrome; Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis; Alpers disease; Alpers Huttenlocher disease; Alpers Huttenlocher syndrome; Alpers progressive infantile poliodystrophy; Alpers progressive sclerosing poliodystrophy; Alpers syndrom
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM: 203700;
MSeqDR LSDB: 00032;  
Genes: POLG;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:00035353-Methylglutaconic aciduria
4 HP:0000649Abnormality of visual evoked potentials
5 HP:0002446Astrocytosis
6 HP:0001251Ataxia
7 HP:0001408Bile duct proliferation
8 HP:0001272Cerebellar atrophy
9 HP:0006964Cerebral cortical neurodegeneration
10 HP:0100704Cortical visual impairment
11 HP:0000726Dementia
NAMDC:  Dementia
12 HP:0002376Developmental regression
13 HP:0002910Elevated hepatic transaminases
14 HP:0012847Epilepsia partialis continua
15 HP:0003219Ethylmalonic aciduria
16 HP:0001508Failure to thrive
17 HP:0001290Generalized hypotonia
18 HP:0002171Gliosis
19 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
20 HP:0001263Global developmental delay
NAMDC:  Mental retardation
21 HP:0001399Hepatic failure
22 HP:0002240Hepatomegaly
23 HP:0001276Hypertonia
24 HP:0002922Increased CSF protein
25 HP:0002151Increased serum lactate
26 HP:0001413Micronodular cirrhosis
27 HP:0001414Microvesicular hepatic steatosis
28 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
29 HP:0001336Myoclonus
NAMDC:  Myoclonus
30 HP:0002529Neuronal loss in central nervous system
31 HP:0003470Paralysis
32 HP:0003678Rapidly progressive
33 HP:0002133Status epilepticus
34 HP:0000572Visual loss
35 HP:0002013Vomiting
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_022336.4(EDAR):c.266G>A (p.Arg89His)10913EDARPathogenic121908450RCV000006206|RCV000032598|RCV000681480|RCV001038628|RCV001253315; NMONDO:MONDO:0009147,MedGen:C3887494,OMIM:224900, Orphanet:238468, Orphanet:248|MedGen:C3551587|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298; MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0016619,MedGen:C0406702,Or21095457441095457442:g.109545744C>TClinGen:CA130257,UniProtKB:Q9UNE0#VAR_013449,OMIM:604095.0002C0406702 224900 Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;
NM_022336.4(EDAR):c.265C>T (p.Arg89Cys)10913EDARPathogenic780424781RCV000681479|RCV002531420; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MONDO:MONDO:0016619,MedGen:C0406702, Orphanet:248; MONDO:MONDO:0007509,MedGen:C3888065,OMIM:129490, Orphanet:1810, Orphanet:23846821095457451095457452:g.109545745G>A-C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NM_002693.3(POLG):c.*49G>A-1FANCI;POLG;POLGARFConflicting interpretations of pathogenicity758880377RCV000267134|RCV000361772|RCV000758389; NMedGen:C4763519|MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053, Orphanet:84|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898599338985993315:g.89859933C>TClinGen:CA10602326C0015625 Fanconi anemia;
NM_002693.3(POLG):c.*30G>A-1FANCI;POLG;POLGARFConflicting interpretations of pathogenicity3087376RCV000381450|RCV000758402|RCV001121230|RCV001546322; NMedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053, Orphanet:84|MedGen:C366190015898599528985995215:g.89859952C>TClinGen:CA7724021CN239393 POLG-Related Spectrum Disorders;
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)-1FANCI;POLG;POLGARFBenign/Likely benign3087374RCV000118022|RCV000291582|RCV000327842|RCV000676315|RCV000758401|RCV001000243|RCV001847612|RCV002311519|RCV002496426; NMedGen:CN169374|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84|MedGen:C4763519|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053, Orphanet:84|MONDO:MON15898599948985999415:g.89859994C>AUniProtKB:P54098#VAR_014911,ClinGen:CA154730C0015625 Fanconi anemia;
NM_002693.3(POLG):c.3701G>A (p.Arg1234Gln)-1FANCI;POLG;POLGARFUncertain significance750792237RCV001731423|RCV001852487|RCV002485274; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053, Orphanet:84158986000189860001NC_000015.9:g.89860001C>TClinGen:CA316631CN169374 not specified;
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val)-1FANCI;POLG;POLGARFUncertain significance199751339RCV000188632|RCV000758560|RCV000765233|RCV000766619|RCV001116313|RCV001116314; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MedGen:C3661900|MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053, Orphanet:84|MedGen:C476351915898600528986005215:g.89860052G>AClinGen:CA316794CN169374 not specified;
NM_002693.3(POLG):c.3644-9A>G-1FANCI;POLG;POLGARFBenign/Likely benign115048121RCV000118021|RCV000352728|RCV000467871|RCV000857933; NMedGen:CN169374|MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053, Orphanet:84|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898600678986006715:g.89860067T>CClinGen:CA288991C0015625 Fanconi anemia;
NM_002693.3(POLG):c.3644-16T>C-1FANCI;POLG;POLGARFConflicting interpretations of pathogenicity536522307RCV000405320|RCV000758387|RCV001116315|RCV001705474; NMONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053, Orphanet:84|MedGen:C366190015898600748986007415:g.89860074A>GClinGen:CA7724048C0015625 Fanconi anemia;
NM_002693.3(POLG):c.3643+25A>G-1FANCI;POLG;POLGARFLikely benign74842339RCV000758552|RCV001564207; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158986058289860582NC_000015.9:g.89860582T>C-
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)-1FANCI;POLG;POLGARFBenign2307441RCV000020476|RCV000118018|RCV000386578|RCV000469563|RCV000676317|RCV000755650|RCV000999632|RCV001119316|RCV001847611|RCV002311518; NMONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MedGen:CN169374|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|6 conditions||MedGen:15898618268986182615:g.89861826T>CClinGen:CA248706,UniProtKB:P54098#VAR_014909C0015625 Fanconi anemia;
NM_002693.3(POLG):c.3105-11T>C-1FANCI;POLG;POLGARFBenign/Likely benign2302084RCV000153754|RCV000284559|RCV000281377|RCV000758546|RCV001789183|RCV001789185|RCV001789184|RCV001789186; NMedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0009783,Me158986234189862341NC_000015.9:g.89862341A>GClinGen:CA295631C0015625 Fanconi anemia;
NM_002693.3(POLG):c.2958C>T (p.Tyr986=)-1FANCI;POLG;POLGARFBenign/Likely benign2307431RCV000118015|RCV000338726|RCV000341944|RCV000467151|RCV000676320|RCV001847712|RCV002312230; NMedGen:CN169374|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D15898640208986402015:g.89864020G>AClinGen:CA288986C0015625 Fanconi anemia;
NM_002693.3(POLG):c.3601del (p.Ser1201fs)5428POLGPathogenic/Likely pathogenic781311846RCV001837082|RCV002542788; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606498986064989860648-
NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer)5428POLGPathogenic/Likely pathogenic1596348443RCV000995841|RCV003467557; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606738986067615:g.89860673_89860676del-
NM_002693.3(POLG):c.3538_3539dup (p.Ala1182fs)5428POLGPathogenic/Likely pathogenic-1RCV003225607; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986071089860711-
NM_002693.3(POLG):c.3483-4_3497del5428POLGPathogenic/Likely pathogenic756325504RCV000758281|RCV001838129|RCV003396320; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|158986075389860771NC_000015.9:g.89860753_89860771del-
NM_002693.3(POLG):c.3483-2A>G5428POLGPathogenic/Likely pathogenic1057518035RCV000414416|RCV000758490; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898607698986076915:g.89860769T>CClinGen:CA10602278CN517202 not provided;
NM_002693.3(POLG):c.3482+2T>C5428POLGPathogenic/Likely pathogenic1466226819RCV001939367; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898617708986177089861770-
NM_002693.3(POLG):c.3424dup (p.Arg1142fs)5428POLGPathogenic/Likely pathogenic1555452453RCV000482298|RCV001336497; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898618298986183015:g.89861829_89861830insGClinGen:CA16620017CN517202 not provided;
NM_002693.3(POLG):c.3409dup (p.Val1137fs)5428POLGPathogenic/Likely pathogenic1555452461RCV000484097|RCV000506657|RCV000690284; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986184489861845NC_000015.9:g.89861846dupClinGen:CA16620018CN517202 not provided;
NM_002693.3(POLG):c.3406G>A (p.Glu1136Lys)5428POLGPathogenic/Likely pathogenic56047213RCV000188615|RCV001857636; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898618488986184815:g.89861848C>TClinGen:CA316760,UniProtKB:P54098#VAR_065092CN517202 not provided;
NM_002693.3(POLG):c.3358_3361dup (p.Glu1121delinsValTer)5428POLGPathogenic/Likely pathogenic1064793800RCV000481750|RCV001389063; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898618928986189315:g.89861892_89861893insCAAAClinGen:CA16620019CN517202 not provided;
NM_002693.3(POLG):c.3287G>T (p.Arg1096Leu)5428POLGPathogenic/Likely pathogenic368435864RCV000188616|RCV001857637; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898619678986196715:g.89861967C>AClinGen:CA316762CN517202 not provided;
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly)5428POLGPathogenic/Likely pathogenic201732356RCV000188612|RCV001059624|RCV003330555; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041, Orphanet:3569815898619688986196815:g.89861968G>CClinGen:CA316754CN517202 not provided;
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg)5428POLGPathogenic/Likely pathogenic761649878RCV000441353|RCV000709798|RCV000758419; NMedGen:C3661900|MedGen:CN180166|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898619698986196915:g.89861969G>CClinGen:CA7724170CN517202 not provided;
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg)5428POLGPathogenic/Likely pathogenic121918049RCV000685758|RCV003352982; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123158986228489862284NC_000015.9:g.89862284C>T-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3104+1G>A5428POLGPathogenic/Likely pathogenic138917386RCV000758276|RCV001546677|RCV002500979; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|6 conditions158986245889862458NC_000015.9:g.89862458C>T-
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg)5428POLGPathogenic/Likely pathogenic142347031RCV000413284|RCV000821077; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898640818986408115:g.89864081A>CClinGen:CA7724330CN517202 not provided;
NM_002693.3(POLG):c.2884dup (p.Ala962fs)5428POLGPathogenic/Likely pathogenic1252078081RCV001048162; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898640938986409415:g.89864093_89864094insC-
NM_002693.3(POLG):c.2870C>T (p.Ala957Val)5428POLGPathogenic/Likely pathogenic753160398RCV000304218|RCV000758268; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898641088986410815:g.89864108G>AClinGen:CA7724336CN517202 not provided;
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro)5428POLGPathogenic/Likely pathogenic121918051RCV000501672|RCV002524270; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986410989864109NC_000015.9:g.89864109C>GClinGen:CA393752678CN517202 not provided;
NM_002693.3(POLG):c.2827C>T (p.Arg943Cys)5428POLGPathogenic/Likely pathogenic1567186614RCV000758264|RCV001546612; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158986415189864151NC_000015.9:g.89864151G>A-
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)5428POLGPathogenic/Likely pathogenic139590686RCV000306622|RCV000321917|RCV000633543|RCV001004600|RCV001848045|RCV002494810; NMedGen:C4763519|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|Human Phenotype Ontology:HP:0002394,Hu15898642388986423815:g.89864238T>GClinGen:CA7724353,UniProtKB:P54098#VAR_058892CN517202 not provided;
NM_002693.3(POLG):c.2605C>T (p.Arg869Ter)5428POLGPathogenic/Likely pathogenic751376824RCV000513535|RCV001226304; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898644858986448515:g.89864485G>AClinGen:CA7724393CN517202 not provided;
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr)5428POLGPathogenic/Likely pathogenic778429780RCV000497335|RCV000758455|RCV003232989|RCV003330728; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:C476351915898649818986498115:g.89864981C>TClinGen:CA7724420CN517202 not provided;
NM_002693.3(POLG):c.2563G>T (p.Val855Leu)5428POLGPathogenic/Likely pathogenic771254207RCV000758452|RCV000995414; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158986500289865002NC_000015.9:g.89865002C>A-
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln)5428POLGPathogenic/Likely pathogenic796052888RCV000188583|RCV000758451|RCV003137764|RCV003330554; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041, Orphanet:35698158986500789865007NC_000015.9:g.89865007C>TClinGen:CA316703CN517202 not provided;
NM_002693.3(POLG):c.2515del (p.Ala839fs)5428POLGPathogenic/Likely pathogenic1596352895RCV000995842|RCV003461301; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898650508986505015:g.89865050_89865050del-
NM_002693.3(POLG):c.2420G>A (p.Arg807His)5428POLGPathogenic/Likely pathogenic796052887RCV000188575|RCV000758305; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898659798986597915:g.89865979C>TClinGen:CA316691CN517202 not provided;
NM_002693.3(POLG):c.2395del (p.Ser799fs)5428POLGPathogenic/Likely pathogenic796052919RCV000188698|RCV000758426; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898660048986600415:g.89866004_89866004delClinGen:CA316901CN517202 not provided;
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)5428POLGPathogenic/Likely pathogenic113994097RCV000014461|RCV000014459|RCV000014460|RCV000080023|RCV000313739|RCV000507757|RCV000508846|RCV001198081|RCV002247336|RCV002313710; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0016809,MedGen:C1843852, Orphanet:254881|MedGen:C3661900|MedGen:C4763519|MedGen:CN169374|MONDO:MONDO:0044970,MeSH:D02815898666578986665715:g.89866657C>GClinVar:157526,ClinGen:CA123150,UniProtKB:P54098#VAR_023673,OMIM:174763.0013C0007959 Charcot-Marie-Tooth disease;
NM_002693.3(POLG):c.2217_2230dup (p.Ile744fs)5428POLGPathogenic/Likely pathogenic1282521429RCV000700867|RCV001775973; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158986666989866670NC_000015.9:g.89866671_89866684dup-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)5428POLGPathogenic/Likely pathogenic121918054RCV000014467|RCV000188568|RCV000233045|RCV000370280|RCV000508744|RCV000768053|RCV001004601|RCV001813987|RCV001847605|RCV002316196|RCV003318542|RCV003407329; NMONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0008758,MedGen:C020515898666918986669115:g.89866691C>GClinGen:CA201029,UniProtKB:P54098#VAR_058885,OMIM:174763.0019C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg)5428POLGPathogenic/Likely pathogenic796052906RCV000188671|RCV000702972|RCV002288793; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886158986868789868687NC_000015.9:g.89868687G>CClinGen:CA316854,UniProtKB:P54098#VAR_058884CN517202 not provided;
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln)5428POLGPathogenic/Likely pathogenic375305567RCV000503435|RCV000660508|RCV003403172; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|158986875089868750NC_000015.9:g.89868750C>TClinGen:CA7724669CN517202 not provided;
NM_002693.3(POLG):c.1433+2T>C5428POLGPathogenic/Likely pathogenic920850257RCV001956083; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898703968987039689870396-
NM_002693.3(POLG):c.1024-1G>C5428POLGPathogenic/Likely pathogenic1567192203RCV000731007|RCV003461008; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987206389872063NC_000015.9:g.89872063C>G-
NM_002693.3(POLG):c.926G>A (p.Arg309His)5428POLGPathogenic/Likely pathogenic780953863RCV000421279|RCV001861504|RCV003319987; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|Human Phenotype Ontology:HP:0002394,Human Phenotype Ontology:HP:0030051,Human Phenotype Ontology:HP:0040083,MedGen:C042714415898722718987227115:g.89872271C>TClinGen:CA7724998CN517202 not provided;
NM_002693.3(POLG):c.922C>T (p.Gln308Ter)5428POLGPathogenic/Likely pathogenic1555453824RCV000579146|RCV002529053; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898722758987227515:g.89872275G>AClinGen:CA393765780CN517202 not provided;
NM_002693.3(POLG):c.915C>G (p.Ser305Arg)5428POLGPathogenic/Likely pathogenic769410130RCV000188649|RCV000758271|RCV000995844|RCV001332170|RCV002372152; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MeSH:D030342,MedGen:C095012315898722828987228215:g.89872282G>CClinGen:CA316819CN517202 not provided;
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)5428POLGPathogenic/Likely pathogenic121918044RCV000014444|RCV000188648|RCV000626287|RCV000762954|RCV001266602|RCV001813984|RCV003387722; NMONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MeSH:D030342,MedGen:C0950123|Human Phenotype Ontology:HP:0012103,MedGen:C4023042|MedGen:CN18016615898722868987228615:g.89872286A>CClinGen:CA256883,UniProtKB:P54098#VAR_012154,OMIM:174763.0003C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
NM_002693.3(POLG):c.679C>T (p.Arg227Trp)5428POLGPathogenic/Likely pathogenic121918056RCV000014469|RCV000255169|RCV000525480|RCV000787362|RCV002513044; NMONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726||MeSH:D030342,MedGen:C095012315898734888987348815:g.89873488G>AClinGen:CA123154,UniProtKB:P54098#VAR_023663,OMIM:174763.0021C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NM_002693.3(POLG):c.380_386del (p.Leu127fs)5428POLGPathogenic/Likely pathogenic1064794735RCV000481566|RCV001389575; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766008987660615:g.89876600_89876606delClinGen:CA16620026CN517202 not provided;
NM_002693.3(POLG):c.172C>T (p.Gln58Ter)5428POLGPathogenic/Likely pathogenic2055625602RCV001233059; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768148987681415:g.89876814G>A-
NM_002693.3(POLG):c.160C>T (p.Gln54Ter)5428POLGPathogenic/Likely pathogenic774768199RCV000735156|RCV003461011; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987682689876826NC_000015.9:g.89876826G>A-
NM_002693.3(POLG):c.67_88del (p.Gly23fs)5428POLGPathogenic/Likely pathogenic2055630470RCV001264386|RCV001388404; NMONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768988987691915:g.89876898_89876919del-
NM_002693.3(POLG):c.3673dup (p.Glu1225fs)5428POLGPathogenic1567183122RCV000758491; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986002889860029NC_000015.9:g.89860029dup-
NM_002693.3(POLG):c.3643+2T>C5428POLGPathogenic1335880349RCV000734043|RCV001037377|RCV001526407|RCV002507306; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|6 conditions158986060589860605NC_000015.9:g.89860605A>G-
NM_002693.3(POLG):c.3643+1G>A5428POLGPathogenic-1RCV003463330; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986060689860606-
NM_002693.3(POLG):c.3630C>G (p.Tyr1210Ter)5428POLGPathogenic139562274RCV001878352; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606208986062089860620-
NM_002693.3(POLG):c.3626_3629dup (p.Tyr1210Ter)5428POLGPathogenic-1RCV003463335; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986062089860621-
NM_002693.3(POLG):c.3576_3580dup (p.Thr1194delinsLysTer)5428POLGPathogenic2152056369RCV001960578; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606698986067089860669-
NM_002693.3(POLG):c.3574G>T (p.Glu1192Ter)5428POLGPathogenic2055309922RCV001925518; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606768986067689860676-
NM_002693.3(POLG):c.3570del (p.Lys1191fs)5428POLGPathogenic-1RCV002847998; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986068089860680NC_000015.9:g.89860681del-
NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn)5428POLGPathogenic1131691575RCV000493626|RCV000508838|RCV000814983|RCV002527019; NMedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123158986070089860700NC_000015.9:g.89860700C>TClinGen:CA393747667C0751651 Mitochondrial diseases;
NM_002693.3(POLG):c.3490_3493dup (p.Ala1165fs)5428POLGPathogenic778115255RCV000758430; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986075689860757NC_000015.9:g.89860759_89860762dup-
NM_002693.3(POLG):c.3447dup (p.Ala1150fs)5428POLGPathogenic1567185026RCV000758280; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986180689861807NC_000015.9:g.89861807dup-
NM_002693.3(POLG):c.3430_3433dup (p.Asp1145fs)5428POLGPathogenic1567185048RCV000758279|RCV003141738; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158986182089861821NC_000015.9:g.89861822_89861825dup-
NM_002693.3(POLG):c.3325_3328del (p.Leu1109fs)5428POLGPathogenic1442498340RCV001949314; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898619268986192989861925-
NM_002693.3(POLG):c.3326dup (p.Leu1109fs)5428POLGPathogenic2152058768RCV001916204; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898619278986192889861927-
NM_002693.3(POLG):c.3304C>T (p.Gln1102Ter)5428POLGPathogenic-1RCV003019300; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986195089861950NC_000015.9:g.89861950G>A-
NC_000015.9:g.(?_89862161)_(89864158_?)del5428POLGPathogenic-1RCV003122608; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986216189864158-
NM_002693.3(POLG):c.3255dup (p.Ser1086fs)5428POLGPathogenic1596350386RCV000794071|RCV001175294; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898621798986218015:g.89862179_89862180insG-
NM_002693.3(POLG):c.3241C>T (p.Arg1081Ter)5428POLGPathogenic767708989RCV000758278; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986219489862194NC_000015.9:g.89862194G>A-
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu)5428POLGPathogenic267606959RCV000014471|RCV000014470|RCV000188673; NMONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898622178986221715:g.89862217G>AClinGen:CA123156,OMIM:174763.0022C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NM_002693.3(POLG):c.3158_3159del (p.Thr1053fs)5428POLGPathogenic1332921412RCV001008827|RCV003461313; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622768986227715:g.89862276_89862277del-
NM_002693.3(POLG):c.3155dup (p.Thr1053fs)5428POLGPathogenic1447799185RCV000538511; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986227989862280NC_000015.9:g.89862285dupClinGen:CA658658306C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3149del (p.Lys1050fs)5428POLGPathogenic1567185603RCV000758277; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986228689862286NC_000015.9:g.89862287del-
NM_002693.3(POLG):c.3104+3A>T5428POLGPathogenic778573169RCV000758418|RCV002312352|RCV003151809; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:C3661900158986245689862456NC_000015.9:g.89862456T>A-
NM_002693.3(POLG):c.3091_3092del (p.Glu1031fs)5428POLGPathogenic1555452607RCV000526093; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898624718986247215:g.89862471_89862472delClinGen:CA658658307C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3067C>T (p.Gln1023Ter)5428POLGPathogenic1567185770RCV000758275; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986249689862496NC_000015.9:g.89862496G>A-
NM_002693.3(POLG):c.3057G>A (p.Trp1019Ter)5428POLGPathogenic1567185775RCV000014465; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898625068986250615:g.89862506C>TOMIM:174763.0017C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3003_3013del (p.Trp1003fs)5428POLGPathogenic2055359441RCV001989774; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898625508986256089862549-
NM_002693.3(POLG):c.2901_2907del (p.Met967fs)5428POLGPathogenic-1RCV002286486; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898640718986407789864070-
NM_002693.3(POLG):c.2894_2897del (p.Arg964_Leu965insTer)5428POLGPathogenic2152060929RCV001962884; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898640818986408489864080-
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys)5428POLGPathogenic113994099RCV000014439|RCV000508934|RCV000676321|RCV000758267; NMONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898641148986411415:g.89864114T>CClinGen:CA341291,UniProtKB:P54098#VAR_012156,OMIM:174763.0001C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.3(POLG):c.2851T>A (p.Tyr951Asn)5428POLGPathogenic1567186591RCV000758460; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986412789864127NC_000015.9:g.89864127A>T-
NM_002693.3(POLG):c.2828G>A (p.Arg943His)5428POLGPathogenic1567186613RCV000758265|RCV000992686; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158986415089864150NC_000015.9:g.89864150C>T-
NM_002693.3(POLG):c.2794C>T (p.His932Tyr)5428POLGPathogenic121918048RCV000014454|RCV000758263|RCV001797046; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898641848986418415:g.89864184G>AClinGen:CA256891,UniProtKB:P54098#VAR_023679,OMIM:174763.0009C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;
NM_002693.3(POLG):c.2753G>A (p.Trp918Ter)5428POLGPathogenic2152061062RCV001927899; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898642258986422589864225-
NM_002693.3(POLG):c.2691_2703dup (p.Leu902fs)5428POLGPathogenic2152061226RCV002000149; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898643868986438789864386-
NM_002693.3(POLG):c.2674dup (p.Asp892fs)5428POLGPathogenic1283198587RCV000758274; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986441589864416NC_000015.9:g.89864417dup-
NM_002693.3(POLG):c.2662G>A (p.Gly888Ser)5428POLGPathogenic1567186787RCV000758316; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986442889864428NC_000015.9:g.89864428C>T-
NM_002693.3(POLG):c.2617G>T (p.Glu873Ter)5428POLGPathogenic121918047RCV000014453; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898644738986447315:g.89864473C>AClinGen:CA256889,OMIM:174763.0008C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)5428POLGPathogenic144500145RCV000188581|RCV000633537|RCV000762953|RCV001252349|RCV001847829|RCV002517007; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ont15898650118986501115:g.89865011G>AClinGen:CA316701,ClinVar:424791CN517202 not provided;
NM_002693.3(POLG):c.2551A>G (p.Thr851Ala)5428POLGPathogenic775445970RCV000758417; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986501489865014NC_000015.9:g.89865014T>C-
NM_002693.3(POLG):c.2543_2544dup (p.Thr849fs)5428POLGPathogenic1567187103RCV000758429; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986502089865021NC_000015.9:g.89865021_89865022dup-
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)5428POLGPathogenic113994098RCV000014449|RCV000014450|RCV000014451|RCV000014452|RCV000188580|RCV000363602|RCV000515163|RCV000678386|RCV001027839|RCV001847601|RCV002054437|RCV002272018|RCV002313707|RCV003230362|RCV003231103|RCV003390682; NMONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MedGen:C1868097|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MedGen:C3661900|MedGen:C4763519|6 conditions|MONDO:15898650238986502315:g.89865023C>TClinGen:CA123144,UniProtKB:P54098#VAR_023675,OMIM:174763.0006C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.3(POLG):c.2480+1G>A5428POLGPathogenic1567187326RCV000758428; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986519289865192NC_000015.9:g.89865192C>T-
NM_002693.3(POLG):c.2426+1G>C5428POLGPathogenic1567187745RCV000758427; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986597289865972NC_000015.9:g.89865972C>G-
NM_002693.3(POLG):c.2217C>A (p.Tyr739Ter)5428POLGPathogenic750514687RCV001917522; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898666838986668389866683-
NM_002693.3(POLG):c.2157+5_2157+6delinsAG5428POLGPathogenic1596354607RCV000758563; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986704089867041NC_000015.9:g.89867040_89867041delinsCT-
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter)5428POLGPathogenic1254855971RCV000758425|RCV002500980; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions158986706089867060NC_000015.9:g.89867060G>A-
NM_002693.3(POLG):c.2125C>T (p.Arg709Ter)5428POLGPathogenic867038717RCV000431312|RCV000758415; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898670788986707815:g.89867078G>AClinGen:CA10602217CN517202 not provided;
NM_002693.3(POLG):c.2070+1G>A5428POLGPathogenic1567188588RCV000758424; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986733789867337NC_000015.9:g.89867337C>T-
NM_002693.3(POLG):c.2038del (p.Leu680fs)5428POLGPathogenic1567188632RCV000758423; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986737089867370NC_000015.9:g.89867371del-
NM_002693.3(POLG):c.2004del (p.Met669fs)5428POLGPathogenic2152063421RCV001386591; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898674048986740489867403-
NM_002693.3(POLG):c.1947C>A (p.Tyr649Ter)5428POLGPathogenic1465650547RCV001244608; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898686838986868315:g.89868683G>T-
NM_002693.3(POLG):c.1887del (p.Asp629fs)5428POLGPathogenic2055503614RCV001212885; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898687438986874315:g.89868743_89868743del-
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp)5428POLGPathogenic121918046RCV000014446|RCV001382679|RCV001781264; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898687518986875115:g.89868751G>AClinGen:CA256887,UniProtKB:P54098#VAR_023672,OMIM:174763.0005C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;
NM_002693.3(POLG):c.1846del (p.Glu616fs)5428POLGPathogenic2152065886RCV001949327; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898687848986878489868783-
NM_002693.3(POLG):c.1818del (p.Trp607fs)5428POLGPathogenic2055505065RCV001205837; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898688128986881215:g.89868812_89868812del-
NM_002693.3(POLG):c.1789_1791del (p.Arg597del)5428POLGPathogenic-1RCV002617624; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986883989868841NC_000015.9:g.89868840_89868842del-
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp)5428POLGPathogenic139717885RCV000438492|RCV000758261|RCV003147454; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:7059515898688418986884115:g.89868841G>AClinGen:CA7724686CN517202 not provided;
NM_002693.3(POLG):c.1783_1786dup (p.Met596fs)5428POLGPathogenic2152065935RCV001956442; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898688438986884489868843-
NM_002693.3(POLG):c.1783C>T (p.Gln595Ter)5428POLGPathogenic2152065937RCV001943891; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898688478986884789868847-
NM_002693.3(POLG):c.1720C>T (p.Arg574Trp)5428POLGPathogenic774474723RCV002007520|RCV003322908; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898689108986891089868910-
NM_002693.3(POLG):c.1716G>A (p.Trp572Ter)5428POLGPathogenic767709505RCV000188664|RCV002517886; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898689148986891415:g.89868914C>TClinGen:CA316842CN517202 not provided;
NM_002693.3(POLG):c.1575_1578del (p.Met525fs)5428POLGPathogenic1253517114RCV001956362; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898701508987015389870149-
NM_002693.3(POLG):c.1562del (p.Pro521fs)5428POLGPathogenic1567191094RCV000758489; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987016689870166NC_000015.9:g.89870169del-
NM_002693.3(POLG):c.1457G>A (p.Trp486Ter)5428POLGPathogenic2055531147RCV001970028; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898702718987027189870271-
NM_002693.3(POLG):c.1433+1G>A5428POLGPathogenic771623994RCV000359026|RCV000758422|RCV002503973; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898703978987039715:g.89870397C>TClinGen:CA7724864CN517202 not provided;
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)5428POLGPathogenic113994095RCV000014440|RCV000014441|RCV000014442|RCV000014443|RCV000188658|RCV000184011|RCV000347876|RCV000515354|RCV000508942|RCV000735201|RCV001004604|RCV001095683|RCV001198082|RCV001376079|RCV001731286|RCV001813983|RCV001847600|RCV002273931|RCV002316195; NMONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0016809,MedGen:C1843852, Orphanet:254881|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661915898704328987043215:g.89870432C>TUniProtKB:P54098#VAR_012155,OMIM:174763.0002,ClinGen:CA123140C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.3(POLG):c.1356T>G (p.Tyr452Ter)5428POLGPathogenic-1RCV003471718; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987047589870475-
NM_002693.3(POLG):c.1345C>T (p.Gln449Ter)5428POLGPathogenic1567191417RCV000758273; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987048689870486NC_000015.9:g.89870486G>A-
NM_002693.3(POLG):c.1289T>C (p.Met430Thr)5428POLGPathogenic1567191474RCV000758436; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987054289870542NC_000015.9:g.89870542A>G-
NM_002693.3(POLG):c.1251-2A>G5428POLGPathogenic2055536585RCV001202188; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898705828987058215:g.89870582T>C-
NM_002693.3(POLG):c.1251-2A>T5428POLGPathogenic-1RCV003463342; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987058289870582-
NM_002693.3(POLG):c.1237_1250dup (p.Arg417fs)5428POLGPathogenic2152067781RCV001389357; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898716868987168789871686-
NM_002693.3(POLG):c.1128_1129del (p.Phe377fs)5428POLGPathogenic-1RCV002851670; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987195789871958NC_000015.9:g.89871958_89871959del-
NM_002693.3(POLG):c.1120C>T (p.Arg374Ter)5428POLGPathogenic960142425RCV000758414; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987196689871966NC_000015.9:g.89871966G>A-
NM_002693.3(POLG):c.1035G>A (p.Trp345Ter)5428POLGPathogenic2152067996RCV001877576; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898720518987205189872051-
NM_002693.3(POLG):c.951_961dup (p.Lys321fs)5428POLGPathogenic1596359629RCV000855757; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898722358987223615:g.89872235_89872236insTGTGTTTGCCC-
NM_002693.3(POLG):c.925C>T (p.Arg309Cys)5428POLGPathogenic886041592RCV000292336|RCV000985201|RCV002500971; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898722728987227215:g.89872272G>AClinGen:CA10603352CN517202 not provided;
NM_002693.3(POLG):c.907G>A (p.Gly303Arg)5428POLGPathogenic749799663RCV001957402; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898722908987229089872290-
NM_002693.3(POLG):c.846C>G (p.Tyr282Ter)5428POLGPathogenic2152068651RCV001912854; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898733218987332189873321-
NM_002693.3(POLG):c.823C>T (p.Arg275Ter)5428POLGPathogenic1057517803RCV000414708|RCV001865283; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898733448987334415:g.89873344G>AClinGen:CA16042905CN517202 not provided;
NM_002693.3(POLG):c.705G>A (p.Trp235Ter)5428POLGPathogenic1567192879RCV000758270; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987346289873462NC_000015.9:g.89873462C>T-
NM_002693.3(POLG):c.698dup (p.Tyr233Ter)5428POLGPathogenic1567192884RCV000758432; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987346889873469NC_000015.9:g.89873469dup-
NM_002693.3(POLG):c.660G>A (p.Trp220Ter)5428POLGPathogenic1596360430RCV000803087; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898735078987350715:g.89873507C>T-
NM_002693.3(POLG):c.552_657del (p.Val185fs)5428POLGPathogenic-1RCV002895382; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987632989876434NC_000015.9:g.89876330_89876435del-
NM_002693.3(POLG):c.646del (p.Ser216fs)5428POLGPathogenic1567193844RCV000688138; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987634089876340NC_000015.9:g.89876340del-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.624C>A (p.Cys208Ter)5428POLGPathogenic1159974816RCV001918974; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898763628987636289876362-
NM_002693.3(POLG):c.287del (p.Gly96fs)5428POLGPathogenic2141815273RCV001939704; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766998987669989876698-
NM_002693.3(POLG):c.268C>T (p.Gln90Ter)5428POLGPathogenic1473911378RCV001390462; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767188987671889876718-
NM_002693.3(POLG):c.229C>T (p.Gln77Ter)5428POLGPathogenic-1RCV002824674; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987675789876757NC_000015.9:g.89876757G>A-
NM_002693.3(POLG):c.202C>T (p.Gln68Ter)5428POLGPathogenic202039305RCV000296330|RCV000758262; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767848987678415:g.89876784G>AClinGen:CA10602212CN517202 not provided;
NM_002693.3(POLG):c.178C>T (p.Gln60Ter)5428POLGPathogenic-1RCV002715795; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987680889876808NC_000015.9:g.89876808G>A-
NM_002693.3(POLG):c.75G>A (p.Trp25Ter)5428POLGPathogenic1021719232RCV000855758; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898769118987691115:g.89876911C>T-
NM_002693.3(POLG):c.3609_3612dup (p.Gly1205fs)5428POLGLikely pathogenic886043241RCV000345512|RCV001753746|RCV003463763; NMedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986063789860638NC_000015.9:g.89860638_89860641dupClinGen:CA10605281C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn)5428POLGLikely pathogenic1085307741RCV000489004|RCV000758421|RCV001526408|RCV003403134; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|15898606778986067715:g.89860677C>AClinGen:CA10602282CN517202 not provided;
NM_002693.3(POLG):c.3565dup (p.Leu1189fs)5428POLGLikely pathogenic-1RCV003463339; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986068489860685-
NM_002693.3(POLG):c.3562T>C (p.Cys1188Arg)5428POLGLikely pathogenic754844175RCV000758330; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986068889860688NC_000015.9:g.89860688A>G-
NM_002693.3(POLG):c.3551A>G (p.Asp1184Gly)5428POLGLikely pathogenic-1RCV002706023; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986069989860699NC_000015.9:g.89860699T>C-
NM_002693.3(POLG):c.3528_3531dup (p.Ala1178fs)5428POLGLikely pathogenic-1RCV003463337; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986071889860719-
NM_002693.3(POLG):c.3528_3531del (p.Val1177fs)5428POLGLikely pathogenic1596348547RCV000992689|RCV003461299; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898607198986072215:g.89860719_89860722del-
NM_002693.3(POLG):c.3523C>T (p.Gln1175Ter)5428POLGLikely pathogenic1567184117RCV000686623|RCV001756159; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380158986072789860727NC_000015.9:g.89860727G>A-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3483-7_3509del5428POLGLikely pathogenic-1RCV003471721; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986074189860774-
NM_002693.3(POLG):c.3470A>G (p.Asn1157Ser)5428POLGLikely pathogenic548076633RCV000188622|RCV000758478; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898617848986178415:g.89861784T>CClinGen:CA316774CN517202 not provided;
NM_002693.3(POLG):c.3400C>T (p.His1134Tyr)5428POLGLikely pathogenic-1RCV002740529; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986185489861854NC_000015.9:g.89861854G>A-
NM_002693.3(POLG):c.3338T>C (p.Leu1113Pro)5428POLGLikely pathogenic1567185178RCV000758472; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986191689861916NC_000015.9:g.89861916A>G-
NM_002693.3(POLG):c.3328C>T (p.His1110Tyr)5428POLGLikely pathogenic2152058760RCV002027135; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898619268986192689861926-
NM_002693.3(POLG):c.3313G>C (p.Ala1105Pro)5428POLGLikely pathogenic753410045RCV000188617|RCV001753589|RCV002514035; NMedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898619418986194115:g.89861941C>GClinGen:CA316764CN517202 not provided;
NM_002693.3(POLG):c.3311C>G (p.Ser1104Cys)5428POLGLikely pathogenic-1RCV003463336; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986194389861943-
NM_002693.3(POLG):c.3296G>A (p.Trp1099Ter)5428POLGLikely pathogenic2055345819RCV001262612; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898619588986195815:g.89861958C>T-
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)5428POLGLikely pathogenic201732356RCV000188613|RCV000762952|RCV000758420|RCV001263172|RCV001753588|RCV001814095; NMedGen:C3661900|6 conditions|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3713421|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|Human Phenotype Ontology:HP:0000707,Human Phenotype Ontology:HP:0001333,Human Pheno15898619688986196815:g.89861968G>AClinGen:CA316756,UniProtKB:P54098#VAR_023686CN517202 not provided;
NM_002693.3(POLG):c.3282del (p.Ser1095fs)5428POLGLikely pathogenic1596350117RCV001004599; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:29815898619728986197215:g.89861972_89861972del-
NM_002693.3(POLG):c.3277_3278del (p.Met1093fs)5428POLGLikely pathogenic-1RCV003463327; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986197689861977-
NM_002693.3(POLG):c.3242G>C (p.Arg1081Pro)5428POLGLikely pathogenic140079523RCV000758466; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986219389862193NC_000015.9:g.89862193C>G-
NM_002693.3(POLG):c.3229dup (p.Cys1077fs)5428POLGLikely pathogenic-1RCV003463333; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986220589862206-
NM_002693.3(POLG):c.3161_3162del (p.Glu1054fs)5428POLGLikely pathogenic-1RCV003463332; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986227389862274-
NM_002693.3(POLG):c.3152G>A (p.Gly1051Glu)5428POLGLikely pathogenic775248939RCV001240587; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622838986228315:g.89862283C>T-
NM_002693.3(POLG):c.3104+2_3104+5del5428POLGLikely pathogenic761664802RCV001508771|RCV002564259; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898624548986245789862453-
NM_002693.3(POLG):c.3104+2T>A5428POLGLikely pathogenic747632869RCV000483183|RCV002481523|RCV003464028; NMedGen:C3661900|6 conditions|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898624578986245715:g.89862457A>TClinGen:CA7724257CN517202 not provided;
NM_002693.3(POLG):c.2981+2T>G5428POLGLikely pathogenic775260762RCV001065150; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898639958986399515:g.89863995A>C-
NM_002693.3(POLG):c.2951_2954dup (p.Met985fs)5428POLGLikely pathogenic-1RCV003463338; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986402389864024-
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser)5428POLGLikely pathogenic121918051RCV000014462|RCV003460472; NMONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898641098986410915:g.89864109C>AClinGen:CA256895,UniProtKB:P54098#VAR_023682,OMIM:174763.0014C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.3(POLG):c.2799T>G (p.Ser933Arg)5428POLGLikely pathogenic765916932RCV000497987|RCV000758459; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898641798986417915:g.89864179A>CClinGen:CA7724346CN517202 not provided;
NM_002693.3(POLG):c.2797A>C (p.Ser933Arg)5428POLGLikely pathogenic-1RCV003055508; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986418189864181NC_000015.9:g.89864181T>G-
NM_002693.3(POLG):c.2698G>A (p.Ala900Thr)5428POLGLikely pathogenic935602068RCV000758457; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986439289864392NC_000015.9:g.89864392C>T-
NM_002693.3(POLG):c.2666C>T (p.Ala889Val)5428POLGLikely pathogenic-1RCV002866545; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986442489864424NC_000015.9:g.89864424G>A-
NM_002693.3(POLG):c.2665G>C (p.Ala889Pro)5428POLGLikely pathogenic763393580RCV000855760; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898644258986442515:g.89864425C>G-
NM_002693.3(POLG):c.2657T>C (p.Leu886Pro)5428POLGLikely pathogenic769210629RCV000758315; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986443389864433NC_000015.9:g.89864433A>G-
NM_002693.3(POLG):c.2598+2T>C5428POLGLikely pathogenic1596352762RCV000792937; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898649658986496515:g.89864965A>G-
NM_002693.3(POLG):c.2591A>G (p.Asn864Ser)5428POLGLikely pathogenic121918050RCV000014458|RCV002513043; NMONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898649748986497415:g.89864974T>CClinGen:CA123148,UniProtKB:P54098#VAR_023676,OMIM:174763.0012C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NM_002693.3(POLG):c.2589C>G (p.Ser863Arg)5428POLGLikely pathogenic1567187057RCV000758309; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986497689864976NC_000015.9:g.89864976G>C-
NM_002693.3(POLG):c.2585C>T (p.Ala862Val)5428POLGLikely pathogenic2152061668RCV001367160; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898649808986498089864980-
NM_002693.3(POLG):c.2555G>A (p.Arg852His)5428POLGLikely pathogenic1567187093RCV000758450; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986501089865010NC_000015.9:g.89865010C>T-
NM_002693.3(POLG):c.2480+2T>C5428POLGLikely pathogenic-1RCV003471715; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986519189865191-
NM_002693.3(POLG):c.2391_2393del (p.Met797del)5428POLGLikely pathogenic1567187766RCV000758304; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986600689866008NC_000015.9:g.89866008_89866010del-
NM_002693.3(POLG):c.2341G>A (p.Ala781Thr)5428POLGLikely pathogenic-1RCV002587906; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986605889866058NC_000015.9:g.89866058C>T-
NM_002693.3(POLG):c.2310C>A (p.Phe770Leu)5428POLGLikely pathogenic755315398RCV000855756; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898660898986608915:g.89866089G>T-
NM_002693.3(POLG):c.2266-1G>A5428POLGLikely pathogenic2152062443RCV001970249; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898661348986613489866134-
NM_002693.3(POLG):c.2262C>G (p.His754Gln)5428POLGLikely pathogenic1567188178RCV000758302; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986663889866638NC_000015.9:g.89866638G>C-
NM_002693.3(POLG):c.2070+2T>G5428POLGLikely pathogenic-1RCV003463341; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986733689867336-
NM_002693.3(POLG):c.1950-2A>G5428POLGLikely pathogenic2152063472RCV002000611; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898674608986746089867460-
NM_002693.3(POLG):c.1944del (p.Tyr649fs)5428POLGLikely pathogenic-1RCV003463340; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986868689868686-
NM_002693.3(POLG):c.1862G>A (p.Gly621Asp)5428POLGLikely pathogenic1567190247RCV000758440; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986876889868768NC_000015.9:g.89868768C>T-
NM_002693.3(POLG):c.1845dup (p.Glu616fs)5428POLGLikely pathogenic-1RCV003463344; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986878489868785-
NM_002693.3(POLG):c.1789C>G (p.Arg597Gly)5428POLGLikely pathogenic139717885RCV000758439; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986884189868841NC_000015.9:g.89868841G>C-
NM_002693.3(POLG):c.1640_1641del (p.Ala547fs)5428POLGLikely pathogenic-1RCV003463329; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986991489869915-
NM_002693.3(POLG):c.1586-1G>A5428POLGLikely pathogenic2055524549RCV001332165|RCV001780251; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898699708986997089869970-
NM_002693.3(POLG):c.1418T>C (p.Leu473Pro)5428POLGLikely pathogenic1567191334RCV000758283; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987041389870413NC_000015.9:g.89870413A>G-
NM_002693.3(POLG):c.1400C>A (p.Ala467Asp)5428POLGLikely pathogenic-1RCV002949674; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987043189870431NC_000015.9:g.89870431G>T-
NM_002693.3(POLG):c.1360G>T (p.Glu454Ter)5428POLGLikely pathogenic-1RCV003471720; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987047189870471-
NM_002693.3(POLG):c.1341_1342dup (p.Ala448fs)5428POLGLikely pathogenic-1RCV003471717; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987048889870489-
NM_002693.3(POLG):c.1250G>C (p.Arg417Thr)5428POLGLikely pathogenic-1RCV003463331; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987168789871687-
NM_002693.3(POLG):c.1202G>A (p.Trp401Ter)5428POLGLikely pathogenic-1RCV003463326; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987173589871735-
NM_002693.3(POLG):c.934_935del (p.Trp312fs)5428POLGLikely pathogenic-1RCV003463325; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987226289872263-
NM_002693.3(POLG):c.895A>C (p.Met299Leu)5428POLGLikely pathogenic-1RCV003471714; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987230289872302-
NM_002693.3(POLG):c.884dup (p.Met295fs)5428POLGLikely pathogenic-1RCV003471716; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987231289872313-
NM_002693.3(POLG):c.793_794del (p.Leu265fs)5428POLGLikely pathogenic-1RCV003471719; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987337389873374-
NM_002693.3(POLG):c.659+1G>T5428POLGLikely pathogenic-1RCV002909910; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987632689876326NC_000015.9:g.89876326C>A-
NM_002693.3(POLG):c.508del (p.Ala170fs)5428POLGLikely pathogenic-1RCV003463343; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987647889876478-
NM_002693.3(POLG):c.470T>C (p.Leu157Pro)5428POLGLikely pathogenic1567194013RCV000758480; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987651689876516NC_000015.9:g.89876516A>G-
NM_002693.3(POLG):c.368T>G (p.Val123Gly)5428POLGLikely pathogenic-1RCV002292198; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766188987661889876618-
NM_002693.3(POLG):c.248T>C (p.Leu83Pro)5428POLGLikely pathogenic1567194243RCV000758448; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987673889876738NC_000015.9:g.89876738A>G-
NM_002693.3(POLG):c.158_159insGC (p.Gln54fs)5428POLGLikely pathogenic-1RCV003463334; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987682789876828-
NC_000015.10:g.(?_89316731)_(89316847_?)del5428POLGUncertain significance-1RCV001031829; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158985996289860078-1-
NM_002693.3(POLG):c.3720G>C (p.Ter1240Tyr)5428POLGUncertain significance991823575RCV001959521; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898599828985998289859982-
NM_002693.3(POLG):c.3720G>A (p.Ter1240=)5428POLGUncertain significance991823575RCV001977064; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898599828985998289859982-
NC_000015.9:g.(?_89859982)_(89876985_?)dup5428POLGUncertain significance-1RCV003122609; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158985998289876985-
NM_002693.3(POLG):c.3717A>G (p.Pro1239=)5428POLGLikely benign-1RCV002605410; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158985998589859985-
NM_002693.3(POLG):c.3716del (p.Pro1239fs)5428POLGUncertain significance1555452076RCV000633555; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898599868985998615:g.89859986_89859986delClinGen:CA658798416C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3715C>A (p.Pro1239Thr)5428POLGUncertain significance-1RCV002511343|RCV002571607; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158985998789859987NC_000015.9:g.89859987G>T-
NM_002693.3(POLG):c.3712G>C (p.Gly1238Arg)5428POLGUncertain significance1024234712RCV000699336; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158985999089859990NC_000015.9:g.89859990C>G-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3711T>G (p.Pro1237=)5428POLGLikely benign1191183793RCV002209216; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898599918985999189859991-
NM_002693.3(POLG):c.3710C>T (p.Pro1237Leu)5428POLGUncertain significance200788482RCV001869910; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898599928985999289859992-
NM_002693.3(POLG):c.3706C>T (p.Gln1236Ter)5428POLGUncertain significance-1RCV003109637; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158985999689859996NC_000015.9:g.89859996G>A-
NM_002693.3(POLG):c.3701_3702insT (p.Ser1235fs)5428POLGUncertain significance2055280453RCV001215530; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600008986000115:g.89860000_89860001insA-
NM_002693.3(POLG):c.3701G>C (p.Arg1234Pro)5428POLGUncertain significance750792237RCV001823333|RCV001885362; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600018986000189860001-
NM_002693.3(POLG):c.3700C>A (p.Arg1234=)5428POLGConflicting interpretations of pathogenicity144346886RCV000127550|RCV000536053|RCV000710187|RCV002345437; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123158986000289860002NC_000015.9:g.89860002G>TClinGen:CA292858CN169374 not specified;
NM_002693.3(POLG):c.3700C>T (p.Arg1234Ter)5428POLGUncertain significance144346886RCV002004562; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600028986000289860002-
NM_002693.3(POLG):c.3691T>G (p.Leu1231Val)5428POLGUncertain significance941120370RCV001954530; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600118986001189860011-
NM_002693.3(POLG):c.3691T>C (p.Leu1231=)5428POLGLikely benign941120370RCV002139853; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600118986001189860011-
NM_002693.3(POLG):c.3690C>T (p.Ser1230=)5428POLGLikely benign3179578RCV001417556; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600128986001289860012-
NM_002693.3(POLG):c.3688T>G (p.Ser1230Ala)5428POLGUncertain significance749355151RCV001235222; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600148986001415:g.89860014A>C-
NM_002693.3(POLG):c.3687C>T (p.Gly1229=)5428POLGUncertain significance1483948890RCV002048365; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600158986001589860015-
NM_002693.3(POLG):c.3686G>A (p.Gly1229Asp)5428POLGUncertain significance371454241RCV002032207; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600168986001689860016-
NM_002693.3(POLG):c.3686G>C (p.Gly1229Ala)5428POLGUncertain significance-1RCV003052638; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986001689860016NC_000015.9:g.89860016C>G-
NM_002693.3(POLG):c.3686G>T (p.Gly1229Val)5428POLGUncertain significance-1RCV003110835; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986001689860016NC_000015.9:g.89860016C>A-
NM_002693.3(POLG):c.3680C>A (p.Thr1227Asn)5428POLGUncertain significance775517153RCV000734457|RCV000758338; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986002289860022NC_000015.9:g.89860022G>T-
NM_002693.3(POLG):c.3671T>C (p.Ile1224Thr)5428POLGUncertain significance779072487RCV000522166|RCV000758337; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600318986003115:g.89860031A>GClinGen:CA7724039CN169374 not specified;
NM_002693.3(POLG):c.3671T>G (p.Ile1224Ser)5428POLGUncertain significance779072487RCV001883236; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600318986003189860031-
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val)5428POLGConflicting interpretations of pathogenicity148786642RCV000548544|RCV000765232|RCV001591204|RCV001848933; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:68515898600358986003515:g.89860035T>CClinGen:CA7724040C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3667A>C (p.Ile1223Leu)5428POLGUncertain significance148786642RCV001372481; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600358986003589860035-
NM_002693.3(POLG):c.3656A>G (p.Asp1219Gly)5428POLGUncertain significance776506626RCV000497988|RCV001039436; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600468986004615:g.89860046T>CClinGen:CA7724042CN169374 not specified;
NM_002693.3(POLG):c.3654G>A (p.Leu1218=)5428POLGLikely benign752513968RCV003326607|RCV002205106; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600488986004889860048-
NM_002693.3(POLG):c.3652C>T (p.Leu1218=)5428POLGConflicting interpretations of pathogenicity146301349RCV000188539|RCV000726207|RCV000758388; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600508986005015:g.89860050G>AClinGen:CA316629CN169374 not specified;
NM_002693.3(POLG):c.3651G>A (p.Ala1217=)5428POLGLikely benign775048930RCV002098961; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600518986005189860051-
NM_002693.3(POLG):c.3650C>G (p.Ala1217Gly)5428POLGUncertain significance-1RCV002736842; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986005289860052NC_000015.9:g.89860052G>C-
NM_002693.3(POLG):c.3649G>C (p.Ala1217Pro)5428POLGUncertain significance569063066RCV001964635|RCV003317552; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN16937415898600538986005389860053-
NM_002693.3(POLG):c.3648A>C (p.Glu1216Asp)5428POLGUncertain significance-1RCV003062884; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986005489860054NC_000015.9:g.89860054T>G-
NM_002693.3(POLG):c.3644-9_3644-6dup5428POLGLikely benign1361303371RCV000862750; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600638986006415:g.89860063_89860064insAGAT-
NM_002693.3(POLG):c.3644-7C>G5428POLGLikely benign2152052427RCV001467431; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600658986006589860065-
NM_002693.3(POLG):c.3644-11C>T5428POLGLikely benign2055283715RCV002215880; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600698986006989860069-
NM_002693.3(POLG):c.3644-14G>C5428POLGBenign3087375RCV000188538|RCV000758554; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600728986007215:g.89860072C>GClinGen:CA316628CN169374 not specified;
NM_002693.3(POLG):c.3644-14G>A5428POLGLikely benign3087375RCV002174548; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898600728986007289860072-
NM_002693.3(POLG):c.3644-16T>G5428POLGLikely benign-1RCV002917558; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986007489860074NC_000015.9:g.89860074A>C-
NM_002693.3(POLG):c.3644-20C>T5428POLGLikely benign-1RCV002983135; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986007889860078NC_000015.9:g.89860078G>A-
NM_002693.3(POLG):c.3643+180G>A5428POLGBenign/Likely benign3176238RCV000758413|RCV000826748; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158986042789860427NC_000015.9:g.89860427C>T-
NM_002693.3(POLG):c.3643+48A>G5428POLGUncertain significance2307454RCV000758553|RCV000832476|RCV001526409|RCV002249458; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MedGen:CN169374158986055989860559NC_000015.9:g.89860559T>C-
NM_002693.3(POLG):c.3643+17_3643+27del5428POLGLikely benign-1RCV003118247; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986058089860590NC_000015.9:g.89860584_89860594del-
NM_002693.3(POLG):c.3643+18G>C5428POLGLikely benign572636339RCV002220551; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898605898986058989860589-
NM_002693.3(POLG):c.3643+17dup5428POLGLikely benign2152055961RCV002082585; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898605898986059089860589-
NM_002693.3(POLG):c.3643+14A>C5428POLGLikely benign545559636RCV002178741; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898605938986059389860593-
NM_002693.3(POLG):c.3643+14A>G5428POLGLikely benign545559636RCV002176027; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898605938986059389860593-
NM_002693.3(POLG):c.3643+7A>C5428POLGLikely benign1481477683RCV001501882; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606008986060089860600-
NM_002693.3(POLG):c.3643+3G>A5428POLGUncertain significance758587842RCV001911497; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606048986060489860604-
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter)5428POLGConflicting interpretations of pathogenicity781256643RCV000579250|RCV000758431; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606108986061015:g.89860610G>AClinGen:CA7724076CN169374 not specified;
NM_002693.3(POLG):c.3640C>G (p.Gln1214Glu)5428POLGLikely benign781256643RCV000758336; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986061089860610NC_000015.9:g.89860610G>C-
NM_002693.3(POLG):c.3639C>G (p.Pro1213=)5428POLGLikely benign756156336RCV001481039; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606118986061189860611-
NM_002693.3(POLG):c.3638C>T (p.Pro1213Leu)5428POLGUncertain significance1338265836RCV000498836|RCV001066558; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606128986061215:g.89860612G>AClinGen:CA393747195CN169374 not specified;
NM_002693.3(POLG):c.3637C>T (p.Pro1213Ser)5428POLGUncertain significance2055307106RCV001089982; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606138986061315:g.89860613G>A-
NM_002693.3(POLG):c.3633G>T (p.Gly1211=)5428POLGUncertain significance2055307243RCV001348709; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606178986061789860617-
NM_002693.3(POLG):c.3631G>A (p.Gly1211Arg)5428POLGUncertain significance768181189RCV000811682; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606198986061915:g.89860619C>T-
NM_002693.3(POLG):c.3630C>T (p.Tyr1210=)5428POLGConflicting interpretations of pathogenicity139562274RCV000732440|RCV001490953|RCV002458346; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123158986062089860620NC_000015.9:g.89860620G>A-
NM_002693.3(POLG):c.3628T>C (p.Tyr1210His)5428POLGUncertain significance747627023RCV001967223; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606228986062289860622-
NM_002693.3(POLG):c.3625A>G (p.Arg1209Gly)5428POLGUncertain significance2055307966RCV001202693; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606258986062515:g.89860625T>C-
NM_002693.3(POLG):c.3616A>G (p.Met1206Val)5428POLGUncertain significance-1RCV002819713; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986063489860634NC_000015.9:g.89860634T>C-
NM_002693.3(POLG):c.3615G>A (p.Gly1205=)5428POLGLikely benign2152056181RCV001417163; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606358986063589860635-
NM_002693.3(POLG):c.3615G>T (p.Gly1205=)5428POLGUncertain significance-1RCV002932321; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986063589860635-
NM_002693.3(POLG):c.3614G>C (p.Gly1205Ala)5428POLGConflicting interpretations of pathogenicity772737979RCV000758335; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986063689860636NC_000015.9:g.89860636C>G-
NM_002693.3(POLG):c.3613G>A (p.Gly1205Arg)5428POLGUncertain significance2055308219RCV001907974; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606378986063789860637-
NM_002693.3(POLG):c.3612T>A (p.Thr1204=)5428POLGBenign/Likely benign1300892439RCV001337473|RCV001712892|RCV002456470; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C095012315898606388986063889860638-
NM_002693.3(POLG):c.3612T>C (p.Thr1204=)5428POLGLikely benign-1RCV002797162; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986063889860638-
NM_002693.3(POLG):c.3611C>G (p.Thr1204Ser)5428POLGUncertain significance1242973021RCV001209834; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606398986063915:g.89860639G>C-
NM_002693.3(POLG):c.3610A>T (p.Thr1204Ser)5428POLGLikely benign761103159RCV000758334; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986064089860640NC_000015.9:g.89860640T>A-
NM_002693.3(POLG):c.3607C>A (p.Pro1203Thr)5428POLGUncertain significance2055308529RCV001296395; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606438986064389860643-
NM_002693.3(POLG):c.3607C>T (p.Pro1203Ser)5428POLGUncertain significance-1RCV002721092; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986064389860643NC_000015.9:g.89860643G>A-
NM_002693.3(POLG):c.3605A>C (p.Asn1202Thr)5428POLGUncertain significance2152056239RCV001363537; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606458986064589860645-
NM_002693.3(POLG):c.3604A>T (p.Asn1202Tyr)5428POLGUncertain significance2152056248RCV002029959; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606468986064689860646-
NM_002693.3(POLG):c.3597C>A (p.Thr1199=)5428POLGBenign2307443RCV000127547|RCV000231024|RCV000676316|RCV001117760|RCV001526406|RCV001847756|RCV002312590; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MedGen:C4763519|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedG158986065389860653NC_000015.9:g.89860653G>TClinGen:CA292856CN517202 not provided;
NM_002693.3(POLG):c.3597C>T (p.Thr1199=)5428POLGLikely benign2307443RCV000560016; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606538986065315:g.89860653G>AClinGen:CA7724088C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3596C>T (p.Thr1199Ile)5428POLGUncertain significance970516573RCV001944327; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606548986065489860654-
NM_002693.3(POLG):c.3590G>A (p.Cys1197Tyr)5428POLGUncertain significance-1RCV002838058; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986066089860660NC_000015.9:g.89860660C>T-
NM_002693.3(POLG):c.3589T>C (p.Cys1197Arg)5428POLGConflicting interpretations of pathogenicity1426811174RCV002042237|RCV002255694; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898606618986066189860661-
NM_002693.3(POLG):c.3586G>A (p.Asp1196Asn)5428POLGConflicting interpretations of pathogenicity765344513RCV000188628|RCV000758333|RCV001847833; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:68515898606648986066415:g.89860664C>TClinGen:CA316786CN169374 not specified;
NM_002693.3(POLG):c.3584T>G (p.Met1195Arg)5428POLGUncertain significance758720361RCV000758332; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986066689860666NC_000015.9:g.89860666A>C-
NM_002693.3(POLG):c.3583A>G (p.Met1195Val)5428POLGUncertain significance764233623RCV002050426; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606678986066789860667-
NM_002693.3(POLG):c.3582C>T (p.Thr1194=)5428POLGConflicting interpretations of pathogenicity1555452247RCV000518106|RCV002527512; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986066889860668NC_000015.9:g.89860668G>AClinGen:CA492070597CN169374 not specified;
NM_002693.3(POLG):c.3580A>G (p.Thr1194Ala)5428POLGUncertain significance751698400RCV001295679; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606708986067089860670-
NM_002693.3(POLG):c.3576A>G (p.Glu1192=)5428POLGLikely benign369438927RCV001397840; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606748986067489860674-
NM_002693.3(POLG):c.3572A>G (p.Lys1191Arg)5428POLGUncertain significance1567183988RCV000758331|RCV001759445; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380158986067889860678NC_000015.9:g.89860678T>C-
NM_002693.3(POLG):c.3570G>A (p.Arg1190=)5428POLGLikely benign531174853RCV001482830; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606808986068015:g.89860680C>T-
NM_002693.3(POLG):c.3564C>T (p.Cys1188=)5428POLGConflicting interpretations of pathogenicity146584956RCV000127546|RCV000547592|RCV001847755|RCV003311689; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MedGen:C3661900158986068689860686NC_000015.9:g.89860686G>AClinGen:CA292854CN169374 not specified;
NM_002693.3(POLG):c.3561G>C (p.Arg1187=)5428POLGUncertain significance62640037RCV000118020|RCV000388497|RCV000474604|RCV000857934|RCV001753496|RCV002312231; NMedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MeSH:D030342,MedGen:C095012315898606898986068915:g.89860689C>GClinGen:CA288989CN169374 not specified;
NM_002693.3(POLG):c.3561G>A (p.Arg1187=)5428POLGLikely benign62640037RCV002118343; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606898986068989860689-
NM_002693.3(POLG):c.3560G>A (p.Arg1187Gln)5428POLGUncertain significance199678775RCV000730017|RCV000795572|RCV002477699; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions158986069089860690NC_000015.9:g.89860690C>T-
NM_002693.3(POLG):c.3559_3560insCACC (p.Arg1187fs)5428POLGUncertain significance2055310700RCV001317129; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606908986069189860690-
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)5428POLGConflicting interpretations of pathogenicity369544574RCV000188627|RCV000633564|RCV000712805|RCV001847832|RCV002453696; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123158986069189860691NC_000015.9:g.89860691G>AClinGen:CA316784CN169374 not specified;
NM_002693.3(POLG):c.3556G>A (p.Asp1186Asn)5428POLGUncertain significance2055310876RCV001317380; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606948986069489860694-
NM_002693.3(POLG):c.3554T>C (p.Ile1185Thr)5428POLGUncertain significance-1RCV002959040; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986069689860696NC_000015.9:g.89860696A>G-
NM_002693.3(POLG):c.3549C>T (p.Val1183=)5428POLGConflicting interpretations of pathogenicity777231247RCV000296446|RCV000535127|RCV001697753; NMedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158986070189860701NC_000015.9:g.89860701G>AClinGen:CA7724100CN169374 not specified;
NM_002693.3(POLG):c.3546A>G (p.Ala1182=)5428POLGLikely benign-1RCV003032531; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986070489860704-
NM_002693.3(POLG):c.3544G>A (p.Ala1182Thr)5428POLGUncertain significance1481381913RCV000497499|RCV001857027|RCV003403157; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN16937415898607068986070615:g.89860706C>TClinGen:CA393747713CN169374 not specified;
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn)5428POLGUncertain significance149921636RCV000416245|RCV000633559|RCV003323528; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN16937415898607088986070815:g.89860708C>TClinGen:CA7724101CN517202 not provided;
NM_002693.3(POLG):c.3532G>A (p.Ala1178Thr)5428POLGUncertain significance770149949RCV001930962|RCV002484532; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898607188986071889860718-
NM_002693.3(POLG):c.3531C>T (p.Val1177=)5428POLGLikely benign1060504039RCV001501710; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986071989860719NC_000015.9:g.89860719G>AClinGen:CA16614761C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)5428POLGConflicting interpretations of pathogenicity776031396RCV000493365|RCV000686358|RCV001375606|RCV002524050; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MeSH:D030342,MedGen:C095012315898607238986072315:g.89860723G>AClinGen:CA7724103CN517202 not provided;
NM_002693.3(POLG):c.3526T>C (p.Ser1176Pro)5428POLGConflicting interpretations of pathogenicity763205408RCV000758329; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986072489860724NC_000015.9:g.89860724A>G-
NM_002693.3(POLG):c.3524A>C (p.Gln1175Pro)5428POLGUncertain significance188348569RCV000793739; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898607268986072615:g.89860726T>G-
NM_002693.3(POLG):c.3522C>T (p.Pro1174=)5428POLGLikely benign751676137RCV001492799; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898607288986072889860728-
NM_002693.3(POLG):c.3520C>G (p.Pro1174Ala)5428POLGUncertain significance762019809RCV001891382; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898607308986073089860730-
NM_002693.3(POLG):c.3519G>A (p.Leu1173=)5428POLGConflicting interpretations of pathogenicity953889846RCV000465233|RCV000516266; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374158986073189860731NC_000015.9:g.89860731C>TClinGen:CA10602279CN169374 not specified;
NM_002693.3(POLG):c.3516C>G (p.Asp1172Glu)5428POLGConflicting interpretations of pathogenicity766196697RCV000188626|RCV000758328; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898607348986073415:g.89860734G>CClinGen:CA316782CN169374 not specified;
NM_002693.3(POLG):c.3511A>C (p.Asn1171His)5428POLGUncertain significance1567184138RCV000712804|RCV002532938; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986073989860739NC_000015.9:g.89860739T>G-
NM_002693.3(POLG):c.3511A>G (p.Asn1171Asp)5428POLGUncertain significance1567184138RCV001930561; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898607398986073989860739-
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg)5428POLGConflicting interpretations of pathogenicity796052913RCV000758327; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986074189860741NC_000015.9:g.89860741A>C-
NM_002693.3(POLG):c.3509T>C (p.Leu1170Pro)5428POLGUncertain significance-1RCV002295167; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898607418986074189860741-
NM_002693.3(POLG):c.3507T>A (p.Gly1169=)5428POLGLikely benign563064296RCV002213663; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898607438986074389860743-
NM_002693.3(POLG):c.3506G>T (p.Gly1169Val)5428POLGUncertain significance-1RCV003108477; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986074489860744NC_000015.9:g.89860744C>A-
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser)5428POLGUncertain significance753864625RCV000188625|RCV000765234|RCV001321540|RCV003407687; NMedGen:C3661900|6 conditions|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|15898607458986074515:g.89860745C>TClinGen:CA316780CN169374 not specified;
NM_002693.3(POLG):c.3502C>T (p.Leu1168=)5428POLGLikely benign2152056682RCV002185077; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898607488986074889860748-
NM_002693.3(POLG):c.3483-12_3498dup5428POLGUncertain significance2055313419RCV001957151; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898607518986075289860751-
NM_002693.3(POLG):c.3498C>T (p.Tyr1166=)5428POLGConflicting interpretations of pathogenicity1427798436RCV000517863|RCV002060254; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986075289860752NC_000015.9:g.89860752G>AClinGen:CA492070832CN169374 not specified;
NM_002693.3(POLG):c.3497A>G (p.Tyr1166Cys)5428POLGUncertain significance754900596RCV000188683|RCV001857640; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898607538986075315:g.89860753T>CClinGen:CA316873CN169374 not specified;
NM_002693.3(POLG):c.3493G>A (p.Ala1165Thr)5428POLGUncertain significance778611629RCV001262613; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898607578986075715:g.89860757C>T-
NM_002693.3(POLG):c.3489G>A (p.Met1163Ile)5428POLGUncertain significance2055313946RCV001350207; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898607618986076189860761-
NM_002693.3(POLG):c.3483-6T>C5428POLGUncertain significance-1RCV002289379; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898607738986077389860773-
NM_002693.3(POLG):c.3483-7C>G5428POLGLikely benign369115751RCV001426416; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898607748986077489860774-
NM_002693.3(POLG):c.3483-13_3483-10dup5428POLGConflicting interpretations of pathogenicity1324794268RCV001847489|RCV002074407; NMONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898607768986077789860776-
NM_002693.3(POLG):c.3483-14T>C5428POLGUncertain significance587781119RCV000127544|RCV001753508|RCV002055754; NMedGen:CN169374|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986078189860781NC_000015.9:g.89860781A>GClinGen:CA292853CN169374 not specified;
NM_002693.3(POLG):c.3483-14T>A5428POLGLikely benign587781119RCV000758386; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986078189860781NC_000015.9:g.89860781A>T-
NM_002693.3(POLG):c.3483-30_3483-16dup5428POLGLikely benign371909334RCV001914023; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898607828986078389860782-
NM_002693.3(POLG):c.3483-17G>C5428POLGLikely benign1053731071RCV000417472|RCV002059578; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898607848986078415:g.89860784C>GClinGen:CA16607050CN169374 not specified;
NM_002693.3(POLG):c.3483-19_3483-18delinsGG5428POLGUncertain significance-1RCV002820336; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986078589860786NC_000015.9:g.89860785_89860786delinsCC-
NM_002693.3(POLG):c.3483-19T>G5428POLGBenign2307438RCV000127543|RCV000758550|RCV001711294|RCV001789187|RCV001789188|RCV001789189|RCV001789190; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,O158986078689860786NC_000015.9:g.89860786A>CClinGen:CA292852CN169374 not specified;
NM_002693.3(POLG):c.3483-41A>C5428POLGBenign2307436RCV000758551|RCV001712745|RCV001759446; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380158986080889860808NC_000015.9:g.89860808T>G-
NM_002693.3(POLG):c.3482+44G>A5428POLGBenign/Likely benign3176228RCV000758549|RCV000832475; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158986172889861728NC_000015.9:g.89861728C>T-
NM_002693.3(POLG):c.3482+6_3482+44del5428POLGUncertain significance771537545RCV002011994; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898617288986176689861727-
NM_002693.3(POLG):c.3482+19C>T5428POLGLikely benign2152058516RCV002216121; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898617538986175389861753-
NM_002693.3(POLG):c.3482+16G>A5428POLGUncertain significance1324465747RCV001963956; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898617568986175689861756-
NM_002693.3(POLG):c.3482+15T>C5428POLGLikely benign1171976544RCV002095439; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898617578986175789861757-
NM_002693.3(POLG):c.3482+11C>T5428POLGLikely benign2152058534RCV002154590; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898617618986176189861761-
NM_002693.3(POLG):c.3482+8G>C5428POLGLikely benign756847018RCV001487556; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898617648986176489861764-
NM_002693.3(POLG):c.3482+7G>A5428POLGConflicting interpretations of pathogenicity200309191RCV000118019|RCV000633572|RCV000726902; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898617658986176515:g.89861765C>TClinGen:CA288988CN169374 not specified;
NM_002693.3(POLG):c.3482+6C>T5428POLGConflicting interpretations of pathogenicity55779802RCV000127539|RCV000316461|RCV000559092|RCV000726414|RCV000768049|RCV001847754|RCV003441747; NMedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298; MONDO:MONDO:0008758,158986176689861766NC_000015.9:g.89861766G>AClinGen:CA292847CN169374 not specified;
NM_002693.3(POLG):c.3482+6C>G5428POLGUncertain significance55779802RCV000546684; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986176689861766NC_000015.9:g.89861766G>CClinGen:CA7724136C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3482+5G>A5428POLGUncertain significance-1RCV002847246; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986176789861767NC_000015.9:g.89861767C>T-
NM_002693.3(POLG):c.3482G>C (p.Arg1161Thr)5428POLGUncertain significance-1RCV002619009; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986177289861772NC_000015.9:g.89861772C>G-
NM_002693.3(POLG):c.3480C>T (p.Thr1160=)5428POLGConflicting interpretations of pathogenicity1057521589RCV000438460|RCV000733253|RCV002525359; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898617748986177415:g.89861774G>AClinGen:CA16606827CN169374 not specified;
NM_002693.3(POLG):c.3479C>T (p.Thr1160Ile)5428POLGUncertain significance-1RCV003051646; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986177589861775NC_000015.9:g.89861775G>A-
NM_002693.3(POLG):c.3472C>A (p.Leu1158Ile)5428POLGConflicting interpretations of pathogenicity1278715599RCV000758479; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986178289861782NC_000015.9:g.89861782G>T-
NM_002693.3(POLG):c.3471C>T (p.Asn1157=)5428POLGLikely benign-1RCV002852867; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986178389861783-
NM_002693.3(POLG):c.3470A>C (p.Asn1157Thr)5428POLGUncertain significance548076633RCV001578044|RCV002569096; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898617848986178489861784-
NM_002693.3(POLG):c.3468C>T (p.Thr1156=)5428POLGConflicting interpretations of pathogenicity566373471RCV000732818|RCV001501052; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986178689861786NC_000015.9:g.89861786G>A-
NM_002693.3(POLG):c.3463A>G (p.Ile1155Val)5428POLGUncertain significance749640920RCV000633545; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986179189861791NC_000015.9:g.89861791T>CClinGen:CA7724138C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3462G>T (p.Gln1154His)5428POLGUncertain significance-1RCV002811339; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986179289861792NC_000015.9:g.89861792C>A-
NM_002693.3(POLG):c.3461A>T (p.Gln1154Leu)5428POLGUncertain significance1567185010RCV000697807; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898617938986179315:g.89861793T>A-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3458T>G (p.Leu1153Trp)5428POLGUncertain significance2152058582RCV002050375; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898617968986179689861796-
NM_002693.3(POLG):c.3456C>G (p.Ala1152=)5428POLGLikely benign1567185018RCV000758385; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986179889861798NC_000015.9:g.89861798G>C-
NM_002693.3(POLG):c.3451C>T (p.Leu1151=)5428POLGUncertain significance769193603RCV000422598|RCV000758384|RCV001753854; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:6838015898618038986180315:g.89861803G>AClinGen:CA7724139CN169374 not specified;
NM_002693.3(POLG):c.3450C>T (p.Ala1150=)5428POLGConflicting interpretations of pathogenicity774880085RCV000188527|RCV000734120|RCV000758476|RCV002317141; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898618048986180415:g.89861804G>AClinGen:CA316608CN169374 not specified;
NM_002693.3(POLG):c.3449C>T (p.Ala1150Val)5428POLGUncertain significance-1RCV002298080; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898618058986180589861805-
NM_002693.3(POLG):c.3445G>A (p.Ala1149Thr)5428POLGUncertain significance879135314RCV000712803|RCV000816523; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986180989861809NC_000015.9:g.89861809C>T-
NM_002693.3(POLG):c.3444C>T (p.Arg1148=)5428POLGConflicting interpretations of pathogenicity374937961RCV000712802|RCV001089379; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898618108986181015:g.89861810G>AClinGen:CA7724140CN169374 not specified;
NM_002693.3(POLG):c.3443G>A (p.Arg1148His)5428POLGUncertain significance145004638RCV000188621|RCV001053332|RCV001847831; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:68515898618118986181115:g.89861811C>TClinGen:CA316772CN169374 not specified;
NM_002693.3(POLG):c.3419_3442dup (p.Leu1140_Tyr1147dup)5428POLGUncertain significance2055342092RCV001874804; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898618118986181289861811-
NM_002693.3(POLG):c.3443G>T (p.Arg1148Leu)5428POLGUncertain significance145004638RCV002211312|RCV003093841; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898618118986181189861811-
NM_002693.3(POLG):c.3442C>T (p.Arg1148Cys)5428POLGUncertain significance149099318RCV000558287|RCV001568583|RCV002456072|RCV002497078; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|6 conditions158986181289861812NC_000015.9:g.89861812G>AClinGen:CA7724141C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys)5428POLGConflicting interpretations of pathogenicity2307440RCV000513124|RCV000545884; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898618188986181815:g.89861818G>AClinGen:CA292845,UniProtKB:P54098#VAR_014910C0751651 Mitochondrial diseases;
NM_002693.3(POLG):c.3432G>A (p.Glu1144=)5428POLGLikely benign-1RCV002889972; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986182289861822-
NM_002693.3(POLG):c.3430G>A (p.Glu1144Lys)5428POLGUncertain significance2152058622RCV002001381; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898618248986182489861824-
NM_002693.3(POLG):c.3429G>A (p.Glu1143=)5428POLGLikely benign-1RCV002611701; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986182589861825-
NM_002693.3(POLG):c.3427G>A (p.Glu1143Lys)5428POLGUncertain significance765123635RCV000701540; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986182789861827NC_000015.9:g.89861827C>T-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3427G>C (p.Glu1143Gln)5428POLGUncertain significance765123635RCV001230662|RCV002462853; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898618278986182715:g.89861827C>G-
NM_002693.3(POLG):c.3425G>A (p.Arg1142Gln)5428POLGUncertain significance536732038RCV000723998|RCV000765235|RCV001219963; NMedGen:C3661900|6 conditions|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898618298986182915:g.89861829C>TClinGen:CA242069CN169374 not specified;
NM_002693.3(POLG):c.3424C>T (p.Arg1142Trp)5428POLGUncertain significance2307442RCV000533411|RCV000734718|RCV001119317; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MedGen:C476351915898618308986183015:g.89861830G>AClinGen:CA341884,UniProtKB:P54098#VAR_014908C0751651 Mitochondrial diseases;
NM_002693.3(POLG):c.3421G>A (p.Val1141Met)5428POLGUncertain significance-1RCV002589266; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986183389861833NC_000015.9:g.89861833C>T-
NM_002693.3(POLG):c.3413G>A (p.Arg1138His)5428POLGUncertain significance756879546RCV001316331; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898618418986184189861841-
NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys)5428POLGConflicting interpretations of pathogenicity767138032RCV000676318|RCV000758475|RCV002282324; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN16937415898618428986184215:g.89861842G>A-CN517202 not provided;
NM_002693.3(POLG):c.3409G>A (p.Val1137Ile)5428POLGUncertain significance2152058666RCV002040706; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898618458986184589861845-
NM_002693.3(POLG):c.3408G>C (p.Glu1136Asp)5428POLGConflicting interpretations of pathogenicity755725702RCV001206861|RCV001586050|RCV002561238; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MeSH:D030342,MedGen:C095012315898618468986184615:g.89861846C>G-
NM_002693.3(POLG):c.3405C>T (p.Asp1135=)5428POLGUncertain significance2307445RCV000431112|RCV000633563|RCV001526404|RCV003401433; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MedGen:C366190015898618498986184915:g.89861849G>AClinGen:CA7724149CN169374 not specified;
NM_002693.3(POLG):c.3399C>T (p.Ile1133=)5428POLGLikely benign1478045929RCV001487209; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898618558986185589861855-
NM_002693.3(POLG):c.3390C>T (p.Cys1130=)5428POLGLikely benign1567185105RCV000758474; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986186489861864NC_000015.9:g.89861864G>A-
NM_002693.3(POLG):c.3383G>A (p.Arg1128His)5428POLGConflicting interpretations of pathogenicity1405268319RCV000728455|RCV000758473|RCV003323703; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374158986187189861871NC_000015.9:g.89861871C>T-
NM_002693.3(POLG):c.3382C>T (p.Arg1128Cys)5428POLGUncertain significance755544706RCV000188620|RCV001857638; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898618728986187215:g.89861872G>AClinGen:CA316770CN169374 not specified;
NM_002693.3(POLG):c.3381G>A (p.Gly1127=)5428POLGLikely benign2152058695RCV002077090; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898618738986187389861873-
NM_002693.3(POLG):c.3373A>G (p.Ile1125Val)5428POLGUncertain significance-1RCV002995722; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986188189861881NC_000015.9:g.89861881T>C-
NM_002693.3(POLG):c.3368T>C (p.Phe1123Ser)5428POLGUncertain significance1441495346RCV001998908; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898618868986188689861886-
NM_002693.3(POLG):c.3363A>G (p.Glu1121=)5428POLGLikely benign773341540RCV000434329|RCV002062788; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898618918986189115:g.89861891T>CClinGen:CA7724154CN169374 not specified;
NM_002693.3(POLG):c.3360T>G (p.Phe1120Leu)5428POLGUncertain significance573272388RCV000692893; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986189489861894NC_000015.9:g.89861894A>C-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3358T>G (p.Phe1120Val)5428POLGUncertain significance776720231RCV001966019; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898618968986189689861896-
NM_002693.3(POLG):c.3356T>C (p.Leu1119Pro)5428POLGUncertain significance2152058721RCV001919614; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898618988986189889861898-
NM_002693.3(POLG):c.3348G>C (p.Met1116Ile)5428POLGUncertain significance-1RCV002574640; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986190689861906NC_000015.9:g.89861906C>G-
NM_002693.3(POLG):c.3347T>G (p.Met1116Arg)5428POLGUncertain significance764036283RCV001880495; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898619078986190789861907-
NM_002693.3(POLG):c.3346A>G (p.Met1116Val)5428POLGUncertain significance201144044RCV000188618|RCV000552872|RCV003230443; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN16937415898619088986190815:g.89861908T>CClinGen:CA316766CN169374 not specified;
NM_002693.3(POLG):c.3339T>C (p.Leu1113=)5428POLGLikely benign1458752535RCV002186833; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898619158986191589861915-
NM_002693.3(POLG):c.3334A>T (p.Met1112Leu)5428POLGUncertain significance767168260RCV000373297|RCV001323466|RCV002261050; NMedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158986192089861920NC_000015.9:g.89861920T>AClinGen:CA7724160CN239393 POLG-Related Spectrum Disorders;
NM_002693.3(POLG):c.3333C>A (p.Leu1111=)5428POLGLikely benign-1RCV002861781; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986192189861921-
NM_002693.3(POLG):c.3330C>T (p.His1110=)5428POLGLikely benign-1RCV003080108; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986192489861924-
NM_002693.3(POLG):c.3327A>C (p.Leu1109Phe)5428POLGUncertain significance2152058767RCV002276390|RCV003096206; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898619278986192789861927-
NM_002693.3(POLG):c.3325T>C (p.Leu1109=)5428POLGLikely benign796052912RCV001397907; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898619298986192989861929-
NM_002693.3(POLG):c.3320ACT[1] (p.Tyr1108del)5428POLGUncertain significance-1RCV003064418; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986192989861931NC_000015.9:g.89861929AGT[1]-
NM_002693.3(POLG):c.3324C>T (p.Tyr1108=)5428POLGLikely benign1164797481RCV002207034; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898619308986193089861930-
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe)5428POLGUncertain significance765949668RCV000188524|RCV000633541|RCV000768050|RCV002321760; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphan15898619318986193115:g.89861931T>AClinGen:CA316604CN169374 not specified;
NM_002693.3(POLG):c.3316G>T (p.Val1106Phe)5428POLGUncertain significance1567185212RCV000698610; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986193889861938NC_000015.9:g.89861938C>A-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3311C>T (p.Ser1104Phe)5428POLGUncertain significance-1RCV002622485|RCV003324040; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374158986194389861943NC_000015.9:g.89861943G>A-
NM_002693.3(POLG):c.3306G>C (p.Gln1102His)5428POLGUncertain significance1336274767RCV000758471; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986194889861948NC_000015.9:g.89861948C>G-
NM_002693.3(POLG):c.3306G>T (p.Gln1102His)5428POLGUncertain significance1336274767RCV001317619; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898619488986194889861948-
NM_002693.3(POLG):c.3305A>C (p.Gln1102Pro)5428POLGUncertain significance-1RCV002617170; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986194989861949NC_000015.9:g.89861949T>G-
NM_002693.3(POLG):c.3303A>C (p.Val1101=)5428POLGLikely benign540638961RCV001492663|RCV001816006|RCV002324093; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C095012315898619518986195189861951-
NM_002693.3(POLG):c.3303A>T (p.Val1101=)5428POLGLikely benign-1RCV003095745; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986195189861951-
NM_002693.3(POLG):c.3301G>A (p.Val1101Ile)5428POLGUncertain significance-1RCV002636450; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986195389861953NC_000015.9:g.89861953C>T-
NM_002693.3(POLG):c.3298G>A (p.Val1100Met)5428POLGUncertain significance1567185242RCV000758470; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986195689861956NC_000015.9:g.89861956C>T-
NM_002693.3(POLG):c.3294T>C (p.Asn1098=)5428POLGUncertain significance374224714RCV000127536|RCV000758383|RCV001171905|RCV001526405; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380158986196089861960NC_000015.9:g.89861960A>GClinGen:CA292843CN169374 not specified;
NM_002693.3(POLG):c.3293A>T (p.Asn1098Ile)5428POLGUncertain significance587780421RCV000758469; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986196189861961NC_000015.9:g.89861961T>A-
NM_002693.3(POLG):c.3290T>A (p.Val1097Glu)5428POLGUncertain significance-1RCV002810566; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986196489861964NC_000015.9:g.89861964A>T-
NM_002693.3(POLG):c.3287G>A (p.Arg1096His)5428POLGConflicting interpretations of pathogenicity368435864RCV000188614|RCV000551933|RCV002314742; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898619678986196715:g.89861967C>TClinGen:CA316758,UniProtKB:P54098#VAR_058894CN517202 not provided;
NM_002693.3(POLG):c.3282C>G (p.Thr1094=)5428POLGLikely benign773093823RCV000864555|RCV001704545|RCV002446747; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MeSH:D030342,MedGen:C095012315898619728986197215:g.89861972G>CClinGen:CA7724172CN169374 not specified;
NM_002693.3(POLG):c.3281C>T (p.Thr1094Ile)5428POLGUncertain significance-1RCV003058168; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986197389861973NC_000015.9:g.89861973G>A-
NM_002693.3(POLG):c.3279G>A (p.Met1093Ile)5428POLGUncertain significance1238487198RCV000703419; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986197589861975NC_000015.9:g.89861975C>T-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3277A>G (p.Met1093Val)5428POLGUncertain significance-1RCV002904057; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986197789861977NC_000015.9:g.89861977T>C-
NM_002693.3(POLG):c.3276T>G (p.Phe1092Leu)5428POLGUncertain significance74034411RCV001927229; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898619788986197889861978-
NM_002693.3(POLG):c.3274-4C>T5428POLGConflicting interpretations of pathogenicity760343963RCV000603463|RCV000861872|RCV002317370; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898619848986198415:g.89861984G>AClinGen:CA7724173CN169374 not specified;
NM_002693.3(POLG):c.3274-8C>T5428POLGLikely benign1184674847RCV001464831|RCV002501320; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898619888986198815:g.89861988G>A-
NM_002693.3(POLG):c.3274-18C>T5428POLGLikely benign1279986380RCV002184959; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898619988986199889861998-
NM_002693.3(POLG):c.3274-19G>A5428POLGBenign/Likely benign116925016RCV000127535|RCV000758548; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986199989861999NC_000015.9:g.89861999C>TClinGen:CA292842CN169374 not specified;
NM_002693.3(POLG):c.3274-47G>A5428POLGLikely benign1567185324RCV000758382; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986202789862027NC_000015.9:g.89862027C>T-
NM_002693.3(POLG):c.3273+34G>A5428POLGLikely benign1567185382RCV000758381; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986212889862128NC_000015.9:g.89862128C>T-
NM_002693.3(POLG):c.3273+28A>C5428POLGLikely benign371425871RCV000758380; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986213489862134NC_000015.9:g.89862134T>G-
NM_002693.3(POLG):c.3273+20G>A5428POLGLikely benign2055350373RCV002167891; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898621428986214289862142-
NM_002693.3(POLG):c.3273+19A>G5428POLGLikely benign376643556RCV002118511; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898621438986214389862143-
NM_002693.3(POLG):c.3273+17G>A5428POLGConflicting interpretations of pathogenicity368578878RCV001905637|RCV002482668; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898621458986214589862145-
NM_002693.3(POLG):c.3273+8G>A5428POLGConflicting interpretations of pathogenicity776468044RCV000758468; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986215489862154NC_000015.9:g.89862154C>T-
NM_002693.3(POLG):c.3273+7T>A5428POLGLikely benign1399265188RCV001476008; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898621558986215515:g.89862155A>T-
NM_002693.3(POLG):c.3273+3_3273+6dup5428POLGLikely benign2152059202RCV002101457; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898621558986215689862155-
NM_002693.3(POLG):c.3273+6T>A5428POLGConflicting interpretations of pathogenicity886051522RCV000281171|RCV000460872; NMedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986215689862156NC_000015.9:g.89862156A>TClinGen:CA10602323CN239393 POLG-Related Spectrum Disorders;
NM_002693.3(POLG):c.3268G>A (p.Glu1090Lys)5428POLGUncertain significance759284625RCV001044057|RCV001664639; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898621678986216715:g.89862167C>T-
NM_002693.3(POLG):c.3266A>G (p.Gln1089Arg)5428POLGUncertain significance369716454RCV000758467|RCV000992688; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158986216989862169NC_000015.9:g.89862169T>C-
NM_002693.3(POLG):c.3259G>A (p.Ala1087Thr)5428POLGUncertain significance752254929RCV001319022; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898621768986217689862176-
NM_002693.3(POLG):c.3258G>A (p.Ser1086=)5428POLGConflicting interpretations of pathogenicity763312940RCV000732872|RCV000758535; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986217789862177NC_000015.9:g.89862177C>T-
NM_002693.3(POLG):c.3257C>T (p.Ser1086Leu)5428POLGUncertain significance373316463RCV000992687|RCV001305114; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898621788986217815:g.89862178G>A-
NM_002693.3(POLG):c.3247C>T (p.Leu1083=)5428POLGLikely benign1349518194RCV001496486; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898621888986218889862188-
NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup)5428POLGConflicting interpretations of pathogenicity1064794213RCV000485688|RCV000758326|RCV001266601; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898621928986219315:g.89862192_89862193insCGGClinGen:CA10602263CN517202 not provided;
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)5428POLGConflicting interpretations of pathogenicity140079523RCV000539421|RCV000735364|RCV000995412|RCV002448638; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|11 conditions|MedGen:C3661900|MeSH:D030342,MedGen:C095012315898621938986219315:g.89862193C>TClinGen:CA7724198C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3239G>C (p.Ser1080Thr)5428POLGUncertain significance779956099RCV000188610|RCV001119318|RCV001526410|RCV001857635; NMedGen:C3661900|MedGen:C4763519|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898621968986219615:g.89862196C>GClinGen:CA316750CN169374 not specified;
NM_002693.3(POLG):c.3235A>C (p.Ile1079Leu)5428POLGUncertain significance756393846RCV000758325|RCV003326492; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158986220089862200NC_000015.9:g.89862200T>G-
NM_002693.3(POLG):c.3229T>G (p.Cys1077Gly)5428POLGConflicting interpretations of pathogenicity1567185468RCV000758324|RCV001121334; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519158986220689862206NC_000015.9:g.89862206A>C-
NM_002693.3(POLG):c.3228C>G (p.Gly1076=)5428POLGLikely benign777893046RCV000758534; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986220789862207NC_000015.9:g.89862207G>C-
NM_002693.3(POLG):c.3227G>A (p.Gly1076Asp)5428POLGUncertain significance1381291951RCV002540607|RCV001774701|RCV002506801; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|6 conditions15898622088986220889862208-
NM_002693.3(POLG):c.3226G>C (p.Gly1076Arg)5428POLGUncertain significance-1RCV002633925; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986220989862209NC_000015.9:g.89862209C>G-
NM_002693.3(POLG):c.3222G>T (p.Val1074=)5428POLGConflicting interpretations of pathogenicity746773616RCV000600336|RCV000734817|RCV000758533; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622138986221315:g.89862213C>AClinGen:CA7724205CN169374 not specified;
NM_002693.3(POLG):c.3219G>A (p.Pro1073=)5428POLGLikely benign770800532RCV001663442|RCV001859424; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622168986221689862216-
NM_002693.3(POLG):c.3219G>C (p.Pro1073=)5428POLGLikely benign-1RCV003107072; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986221689862216-
NM_002693.3(POLG):c.3216C>G (p.Thr1072=)5428POLGConflicting interpretations of pathogenicity146936870RCV000186651|RCV000697212|RCV000723849|RCV002321613; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123158986221989862219NC_000015.9:g.89862219G>CClinGen:CA232561CN169374 not specified;
NM_002693.3(POLG):c.3215C>G (p.Thr1072Ser)5428POLGUncertain significance530757118RCV000188609|RCV000633539|RCV002478660|RCV002517884; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MeSH:D030342,MedGen:C095012315898622208986222015:g.89862220G>CClinGen:CA316748CN169374 not specified;
NM_002693.3(POLG):c.3215C>T (p.Thr1072Ile)5428POLGUncertain significance-1RCV002726787; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986222089862220NC_000015.9:g.89862220G>A-
NM_002693.3(POLG):c.3214A>T (p.Thr1072Ser)5428POLGUncertain significance1237483748RCV001873129; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622218986222189862221-
NM_002693.3(POLG):c.3212G>A (p.Arg1071His)5428POLGUncertain significance774851005RCV000188608|RCV001351446; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622238986222315:g.89862223C>TClinGen:CA316746CN169374 not specified;
NM_002693.3(POLG):c.3206T>C (p.Ile1069Thr)5428POLGUncertain significance-1RCV003027679; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986222989862229NC_000015.9:g.89862229A>G-
NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu)5428POLGUncertain significance1057523186RCV000423533|RCV000758323|RCV000765237|RCV002313113|RCV003323537; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MeSH:D030342,MedGen:C0950123|MedGen:CN16937415898622318986223115:g.89862231G>CClinGen:CA10602261CN169374 not specified;
NM_002693.3(POLG):c.3203A>C (p.Asp1068Ala)5428POLGUncertain significance774888597RCV001973197; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622328986223289862232-
NM_002693.3(POLG):c.3198G>A (p.Thr1066=)5428POLGConflicting interpretations of pathogenicity61752780RCV000127533|RCV000338380|RCV000475971|RCV000676319|RCV001847753|RCV002312589; NMedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123158986223789862237NC_000015.9:g.89862237C>TClinGen:CA292840CN517202 not provided;
NM_002693.3(POLG):c.3195T>C (p.Ala1065=)5428POLGLikely benign756235228RCV001479565; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622408986224015:g.89862240A>GClinGen:CA7724212C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3188G>A (p.Ser1063Asn)5428POLGUncertain significance-1RCV003064878; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986224789862247NC_000015.9:g.89862247C>T-
NM_002693.3(POLG):c.3180G>A (p.Lys1060=)5428POLGLikely benign-1RCV002700331; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986225589862255-
NM_002693.3(POLG):c.3178A>G (p.Lys1060Glu)5428POLGUncertain significance1444338482RCV002016475; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622578986225789862257-
NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser)5428POLGUncertain significance201192905RCV000188605|RCV000633540|RCV000723977|RCV000765238|RCV001121335; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|6 conditions|MedGen:C476351915898622598986225915:g.89862259T>CClinGen:CA241931CN169374 not specified;
NM_002693.3(POLG):c.3176A>T (p.Asn1059Ile)5428POLGUncertain significance201192905RCV000188606|RCV000693468; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622598986225915:g.89862259T>AClinGen:CA316742CN169374 not specified;
NM_002693.3(POLG):c.3175A>G (p.Asn1059Asp)5428POLGUncertain significance2152059350RCV002027261|RCV003161262; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898622608986226089862260-
NM_002693.3(POLG):c.3173T>C (p.Phe1058Ser)5428POLGUncertain significance1555452561RCV001045067; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622628986226215:g.89862262A>G-
NM_002693.3(POLG):c.3171G>A (p.Met1057Ile)5428POLGUncertain significance2152059356RCV001875280; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622648986226489862264-
NM_002693.3(POLG):c.3170T>C (p.Met1057Thr)5428POLGUncertain significance966144250RCV000758322; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986226589862265NC_000015.9:g.89862265A>G-
NM_002693.3(POLG):c.3168A>G (p.Glu1056=)5428POLGLikely benign2152059363RCV002121134; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622678986226789862267-
NM_002693.3(POLG):c.3167A>C (p.Glu1056Ala)5428POLGConflicting interpretations of pathogenicity768571276RCV000188522|RCV002517882; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622688986226815:g.89862268T>GClinGen:CA316600CN169374 not specified;
NM_002693.3(POLG):c.3165A>G (p.Ser1055=)5428POLGLikely benign-1RCV003027680; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986227089862270-
NM_002693.3(POLG):c.3162G>A (p.Glu1054=)5428POLGLikely benign757263896RCV001427097; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622738986227389862273-
NM_002693.3(POLG):c.3157A>G (p.Thr1053Ala)5428POLGUncertain significance2055353735RCV001206115; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622788986227815:g.89862278T>C-
NM_002693.3(POLG):c.3155G>A (p.Gly1052Asp)5428POLGUncertain significance769328030RCV000757679|RCV001855898; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986228089862280NC_000015.9:g.89862280C>T-
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)5428POLGConflicting interpretations of pathogenicity121918049RCV000014455|RCV000188604|RCV000226986|RCV000778451|RCV001252354|RCV002251905; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:15898622848986228415:g.89862284C>GClinGen:CA256893,UniProtKB:P54098#VAR_023684,OMIM:174763.0010CN517202 not provided;
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp)5428POLGConflicting interpretations of pathogenicity121918049RCV001121336|RCV001856597|RCV002491375|RCV002466625|RCV003322852; NMedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MedGen:CN51720215898622848986228415:g.89862284C>A-
NM_002693.3(POLG):c.3150G>T (p.Lys1050Asn)5428POLGUncertain significance1254460454RCV001211321; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622858986228515:g.89862285C>A-
NM_002693.3(POLG):c.3150G>C (p.Lys1050Asn)5428POLGUncertain significance-1RCV002302158; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622858986228589862285-
NM_002693.3(POLG):c.3145T>C (p.Trp1049Arg)5428POLGUncertain significance-1RCV002296488; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622908986229089862290-
NM_002693.3(POLG):c.3143C>T (p.Ala1048Val)5428POLGUncertain significance1483830740RCV001934345; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622928986229289862292-
NM_002693.3(POLG):c.3142G>T (p.Ala1048Ser)5428POLGUncertain significance762244296RCV001880668; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622938986229389862293-
NM_002693.3(POLG):c.3140G>A (p.Arg1047Gln)5428POLGUncertain significance768028281RCV000524094|RCV001857942; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898622958986229515:g.89862295C>TClinGen:CA7724225CN169374 not specified;
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)5428POLGConflicting interpretations of pathogenicity181860632RCV000188603|RCV000633548|RCV001808470|RCV002247605|RCV002317146; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MeSH:D030342,MedGen:C0950123158986229689862296NC_000015.9:g.89862296G>AClinGen:CA316740CN517202 not provided;
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)5428POLGConflicting interpretations of pathogenicity150233690RCV000118016|RCV000234341|RCV000515366|RCV000678829|RCV000778452|RCV001847713|RCV002243762|RCV002272131|RCV002316314|RCV003330442; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|Human Phenotype Ontology:HP:0001346,Human Phenotype Ontology:HP:0002353,Human Phenotype Ontology:HP:0002429,Human Phenotype Ontology:HP:0006841,MedGen:C0151611|Med15898623048986230415:g.89862304A>GClinGen:CA231404C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.3(POLG):c.3128T>C (p.Val1043Ala)5428POLGUncertain significance1309234992RCV002002128; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898623078986230789862307-
NM_002693.3(POLG):c.3126G>A (p.Glu1042=)5428POLGLikely benign766485086RCV000758532; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986230989862309NC_000015.9:g.89862309C>T-
NM_002693.3(POLG):c.3121T>C (p.Trp1041Arg)5428POLGUncertain significance2055354733RCV001061017; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898623148986231415:g.89862314A>G-
NM_002693.3(POLG):c.3120G>C (p.Lys1040Asn)5428POLGUncertain significance754039113RCV001121337|RCV002286812|RCV002556611; NMedGen:C4763519|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898623158986231515:g.89862315C>G-
NM_002693.3(POLG):c.3120G>A (p.Lys1040=)5428POLGLikely benign754039113RCV001479798; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898623158986231589862315-
NM_002693.3(POLG):c.3115A>G (p.Lys1039Glu)5428POLGUncertain significance2152059459RCV001892703; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898623208986232089862320-
NM_002693.3(POLG):c.3107C>T (p.Ser1036Leu)5428POLGUncertain significance2055354896RCV001940775|RCV003235627; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898623288986232889862328-
NM_002693.3(POLG):c.3105-5C>T5428POLGLikely benign759708686RCV000430974|RCV001458963; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898623358986233515:g.89862335G>AClinGen:CA7724228CN169374 not specified;
NM_002693.3(POLG):c.3105-6C>T5428POLGLikely benign2055355030RCV001411313; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898623368986233689862336-
NM_002693.3(POLG):c.3105-12_3105-11delinsTC5428POLGLikely benign2152059497RCV002142199; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898623418986234289862341-
NM_002693.3(POLG):c.3105-16_3105-15del5428POLGBenign146915033RCV000188521|RCV001519997|RCV001706163; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898623458986234615:g.89862345_89862346delClinGen:CA316599CN169374 not specified;
NM_002693.3(POLG):c.3105-18C>T5428POLGLikely benign2152059518RCV002136643; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898623488986234889862348-
NM_002693.3(POLG):c.3105-18C>G5428POLGLikely benign2152059518RCV002127753; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898623488986234889862348-
NM_002693.3(POLG):c.3105-19T>C5428POLGLikely benign755986798RCV000758530|RCV000827183; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158986234989862349NC_000015.9:g.89862349A>G-
NM_002693.3(POLG):c.3105-22C>T5428POLGLikely benign199809987RCV000758531; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986235289862352NC_000015.9:g.89862352G>A-
NM_002693.3(POLG):c.3105-36A>G5428POLGBenign2246900RCV000758547|RCV001672951|RCV001789365|RCV001789366|RCV001789367|RCV001789368; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|M158986236689862366NC_000015.9:g.89862366T>C-
NM_002693.3(POLG):c.3104+64A>G5428POLGLikely benign1567185722RCV000758412; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986239589862395NC_000015.9:g.89862395T>C-
NM_002693.3(POLG):c.3104+50C>T5428POLGLikely benign370764907RCV000758529; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986240989862409NC_000015.9:g.89862409G>A-
NM_002693.3(POLG):c.3104+32G>A5428POLGLikely benign200269242RCV000758528; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986242789862427NC_000015.9:g.89862427C>T-
NM_002693.3(POLG):c.3104+27G>A5428POLGLikely benign373628823RCV000758527; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986243289862432NC_000015.9:g.89862432C>T-
NM_002693.3(POLG):c.3104+24G>C5428POLGLikely benign201483942RCV000758526; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986243589862435NC_000015.9:g.89862435C>G-
NM_002693.3(POLG):c.3104+12_3104+14del5428POLGLikely benign-1RCV002599158; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986244589862447NC_000015.9:g.89862445AAG[1]-
NM_002693.3(POLG):c.3104+11T>A5428POLGLikely benign-1RCV002585628; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986244889862448NC_000015.9:g.89862448A>T-
NM_002693.3(POLG):c.3104+9C>T5428POLGLikely benign753591682RCV002155524; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898624508986245089862450-
NM_002693.3(POLG):c.3104+8C>A5428POLGConflicting interpretations of pathogenicity754615624RCV000188520|RCV000526953|RCV000726786; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898624518986245115:g.89862451G>TClinGen:CA316598CN169374 not specified;
NM_002693.3(POLG):c.3104A>G (p.Lys1035Arg)5428POLGUncertain significance-1RCV003025054; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986245989862459NC_000015.9:g.89862459T>C-
NM_002693.3(POLG):c.3101G>A (p.Arg1034Lys)5428POLGUncertain significance201014720RCV000493683|RCV000758321|RCV002323854; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898624628986246215:g.89862462C>TClinGen:CA7724258CN169374 not specified;
NM_002693.3(POLG):c.3099A>G (p.Ala1033=)5428POLGLikely benign1489505790RCV001411819; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898624648986246415:g.89862464T>C-
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)5428POLGConflicting interpretations of pathogenicity551708243RCV000551001|RCV000710186|RCV000765239|RCV001121338|RCV001332169; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|6 conditions|MedGen:C4763519|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:25488615898624658986246515:g.89862465G>AClinGen:CA316596C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NM_002693.3(POLG):c.3091G>C (p.Glu1031Gln)5428POLGUncertain significance2055358274RCV001205187; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898624728986247215:g.89862472C>G-
NM_002693.3(POLG):c.3090A>G (p.Arg1030=)5428POLGLikely benign149429142RCV001457409; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898624738986247389862473-
NM_002693.3(POLG):c.3082G>T (p.Val1028Phe)5428POLGUncertain significance2055358409RCV001316747; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898624818986248189862481-
NM_002693.3(POLG):c.3077G>A (p.Arg1026His)5428POLGUncertain significance777038915RCV000188678|RCV000633553|RCV002485277; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898624868986248615:g.89862486C>TClinGen:CA316863CN169374 not specified;
NM_002693.3(POLG):c.3075G>A (p.Leu1025=)5428POLGLikely benign146404260RCV000230283|RCV000768051|RCV001705260; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298; MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:M158986248889862488NC_000015.9:g.89862488C>TClinGen:CA7724261CN169374 not specified;
NM_002693.3(POLG):c.3073C>G (p.Leu1025Val)5428POLGUncertain significance1421324049RCV001230713; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898624908986249015:g.89862490G>C-
NM_002693.3(POLG):c.3068A>G (p.Gln1023Arg)5428POLGUncertain significance1364906906RCV001066059; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898624958986249515:g.89862495T>C-
NM_002693.3(POLG):c.3066G>A (p.Leu1022=)5428POLGLikely benign2152059763RCV002131966; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898624978986249789862497-
NM_002693.3(POLG):c.3064C>G (p.Leu1022Val)5428POLGUncertain significance2152059768RCV002033589; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898624998986249989862499-
NM_002693.3(POLG):c.3062C>T (p.Ser1021Phe)5428POLGUncertain significance2055358674RCV001202164; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898625018986250115:g.89862501G>A-
NM_002693.3(POLG):c.3060T>A (p.Ile1020=)5428POLGLikely benign2152059776RCV002134993; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898625038986250389862503-
NM_002693.3(POLG):c.3054C>A (p.Gly1018=)5428POLGLikely benign-1RCV002746760; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986250989862509-
NM_002693.3(POLG):c.3051T>C (p.Gly1017=)5428POLGLikely benign1555452613RCV001401463; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986251289862512NC_000015.9:g.89862512A>GClinGen:CA492072112C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3046G>A (p.Glu1016Lys)5428POLGUncertain significance763290547RCV000758319|RCV000712799; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898625178986251715:g.89862517C>TClinGen:CA7724263CN169374 not specified;
NM_002693.3(POLG):c.3041G>A (p.Arg1014Lys)5428POLGUncertain significance1368475929RCV002016611|RCV002443050|RCV003332373; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:C366190015898625228986252289862522-
NM_002693.3(POLG):c.3040A>G (p.Arg1014Gly)5428POLGUncertain significance764195223RCV000493268|RCV000758318; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898625238986252315:g.89862523T>CClinGen:CA7724264CN169374 not specified;
NM_002693.3(POLG):c.3037G>T (p.Asp1013Tyr)5428POLGUncertain significance1307399071RCV000497709|RCV000633536|RCV001332168; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:25488615898625268986252615:g.89862526C>AClinGen:CA393751388CN169374 not specified;
NM_002693.3(POLG):c.3037G>A (p.Asp1013Asn)5428POLGUncertain significance1307399071RCV001952513; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898625268986252689862526-
NM_002693.3(POLG):c.3036G>A (p.Val1012=)5428POLGLikely benign965963320RCV002041215; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898625278986252789862527-
NM_002693.3(POLG):c.3030C>T (p.Leu1010=)5428POLGLikely benign760607209RCV001446514|RCV001703489; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898625338986253315:g.89862533G>AClinGen:CA7724266CN169374 not specified;
NM_002693.3(POLG):c.3025A>T (p.Asn1009Tyr)5428POLGUncertain significance1567185808RCV000758317; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986253889862538NC_000015.9:g.89862538T>A-
NM_002693.3(POLG):c.3024G>A (p.Leu1008=)5428POLGConflicting interpretations of pathogenicity139488968RCV000733358|RCV001455433; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986253989862539NC_000015.9:g.89862539C>T-
NM_002693.3(POLG):c.3017G>A (p.Arg1006Lys)5428POLGUncertain significance142732551RCV000188518|RCV000704540|RCV003401025; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|158986254689862546NC_000015.9:g.89862546C>TClinGen:CA316594CN169374 not specified;
NM_002693.3(POLG):c.3017G>C (p.Arg1006Thr)5428POLGUncertain significance-1RCV002623340; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986254689862546NC_000015.9:g.89862546C>G-
NM_002693.3(POLG):c.3015G>T (p.Val1005=)5428POLGLikely benign-1RCV003056310; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986254889862548-
NM_002693.3(POLG):c.3013G>T (p.Val1005Leu)5428POLGUncertain significance2152059818RCV002033869; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898625508986255089862550-
NM_002693.3(POLG):c.3012G>T (p.Leu1004=)5428POLGConflicting interpretations of pathogenicity989355152RCV000734085|RCV002535364; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986255189862551NC_000015.9:g.89862551C>A-
NM_002693.3(POLG):c.3009G>C (p.Trp1003Cys)5428POLGUncertain significance1064796455RCV000485857|RCV000633554; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898625548986255415:g.89862554C>GClinGen:CA16620020CN169374 not specified;
NM_002693.3(POLG):c.3006G>C (p.Glu1002Asp)5428POLGUncertain significance990343459RCV000691635|RCV001584565; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158986255789862557NC_000015.9:g.89862557C>G-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.3006G>A (p.Glu1002=)5428POLGLikely benign990343459RCV001442954; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898625578986255789862557-
NM_002693.3(POLG):c.3004G>A (p.Glu1002Lys)5428POLGUncertain significance757987765RCV001066719; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898625598986255915:g.89862559C>T-
NM_002693.3(POLG):c.3003C>T (p.Gly1001=)5428POLGUncertain significance146064249RCV002034166; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898625608986256089862560-
NM_002693.3(POLG):c.3001G>A (p.Gly1001Ser)5428POLGUncertain significance1469484812RCV001362250; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898625628986256289862562-
NM_002693.3(POLG):c.2998G>A (p.Glu1000Lys)5428POLGUncertain significance1412887168RCV000758465|RCV002533817|RCV003128692; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:CN517202158986256589862565NC_000015.9:g.89862565C>T-
NM_002693.3(POLG):c.2994G>C (p.Ser998=)5428POLGBenign/Likely benign567030498RCV000286242|RCV000633571|RCV000712798|RCV001848063|RCV002436120; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C095012315898625698986256915:g.89862569C>GClinGen:CA7724281CN169374 not specified;
NM_002693.3(POLG):c.2994G>A (p.Ser998=)5428POLGUncertain significance567030498RCV001529991|RCV002568882; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898625698986256989862569-
NM_002693.3(POLG):c.2993C>T (p.Ser998Leu)5428POLGUncertain significance79840247RCV001062695|RCV002553926; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898625708986257015:g.89862570G>A-
NM_002693.3(POLG):c.2992T>C (p.Ser998Pro)5428POLGUncertain significance199810950RCV001900462; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898625718986257189862571-
NM_002693.3(POLG):c.2987G>A (p.Arg996Gln)5428POLGUncertain significance770236576RCV000633551|RCV000730152|RCV002433851; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MeSH:D030342,MedGen:C095012315898625768986257615:g.89862576C>TClinGen:CA316732CN169374 not specified;
NM_002693.3(POLG):c.2986C>T (p.Arg996Trp)5428POLGUncertain significance202229893RCV000725947|RCV000800257; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898625778986257715:g.89862577G>AClinGen:CA316730CN169374 not specified;
NM_002693.3(POLG):c.2984A>G (p.Tyr995Cys)5428POLGUncertain significance749458217RCV000758464; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986257989862579NC_000015.9:g.89862579T>C-
NM_002693.3(POLG):c.2982-3C>T5428POLGConflicting interpretations of pathogenicity538731397RCV000426083|RCV000525150; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898625848986258415:g.89862584G>AClinGen:CA7724285CN169374 not specified;
NM_002693.3(POLG):c.2982-7C>T5428POLGLikely benign1230504949RCV001418188; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898625888986258889862588-
NM_002693.3(POLG):c.2982-9T>G5428POLGConflicting interpretations of pathogenicity774707044RCV001358833|RCV001550432; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898625908986259089862590-
NM_002693.3(POLG):c.2982-10C>T5428POLGLikely benign2152059869RCV001457929; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898625918986259189862591-
NM_002693.3(POLG):c.2982-16A>G5428POLGLikely benign1567185886RCV000758524; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986259789862597NC_000015.9:g.89862597T>C-
NM_002693.3(POLG):c.2982-30G>A5428POLGBenign76339822RCV000758559; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986261189862611NC_000015.9:g.89862611C>T-
NM_002693.3(POLG):c.2982-31C>T5428POLGLikely benign2307432RCV000758400; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986261289862612NC_000015.9:g.89862612G>A-
NM_002693.3(POLG):c.2982-50G>A5428POLGLikely benign752500882RCV000758525; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986263189862631NC_000015.9:g.89862631C>T-
NM_002693.3(POLG):c.2981+17C>T5428POLGLikely benign-1RCV002927324; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986398089863980NC_000015.9:g.89863980G>A-
NM_002693.3(POLG):c.2981+13C>G5428POLGLikely benign-1RCV003067191; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986398489863984NC_000015.9:g.89863984G>C-
NM_002693.3(POLG):c.2981+3G>A5428POLGUncertain significance769780988RCV001321567; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898639948986399489863994-
NM_002693.3(POLG):c.2978G>A (p.Arg993His)5428POLGUncertain significance546883829RCV000188595|RCV001314840; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986400089864000NC_000015.9:g.89864000C>TClinGen:CA316727CN169374 not specified;
NM_002693.3(POLG):c.2977C>T (p.Arg993Cys)5428POLGUncertain significance551811489RCV000465502|RCV000732917|RCV002436394|RCV002481390; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|6 conditions158986400189864001NC_000015.9:g.89864001G>AClinGen:CA7724314C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2964C>T (p.Ala988=)5428POLGLikely benign565520786RCV002172925; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898640148986401489864014-
NM_002693.3(POLG):c.2963C>T (p.Ala988Val)5428POLGUncertain significance1279049508RCV000695379; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986401589864015NC_000015.9:g.89864015G>A-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2959G>A (p.Ala987Thr)5428POLGUncertain significance200258601RCV001063250|RCV001824411; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898640198986401915:g.89864019C>T-
NM_002693.3(POLG):c.2951A>G (p.Gln984Arg)5428POLGUncertain significance1780095681RCV001757114|RCV001868463; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898640278986402789864027-
NM_002693.3(POLG):c.2948A>T (p.Gln983Leu)5428POLGUncertain significance756679711RCV001040704; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898640308986403015:g.89864030T>A-
NM_002693.3(POLG):c.2946C>A (p.Ala982=)5428POLGLikely benign-1RCV002627116; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986403289864032-
NM_002693.3(POLG):c.2944G>T (p.Ala982Ser)5428POLGUncertain significance-1RCV002667251; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986403489864034NC_000015.9:g.89864034C>A-
NM_002693.3(POLG):c.2939A>C (p.Glu980Ala)5428POLGUncertain significance754202777RCV000633547|RCV000712797|RCV001116416; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MedGen:C4763519158986403989864039NC_000015.9:g.89864039T>GClinGen:CA7724320C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2937T>C (p.Ala979=)5428POLGLikely benign779363917RCV002210195; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898640418986404189864041-
NM_002693.3(POLG):c.2935G>C (p.Ala979Pro)5428POLGUncertain significance-1RCV002806744; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986404389864043NC_000015.9:g.89864043C>G-
NM_002693.3(POLG):c.2931G>A (p.Glu977=)5428POLGLikely benign-1RCV002979690; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986404789864047-
NM_002693.3(POLG):c.2928G>C (p.Gln976His)5428POLGUncertain significance-1RCV002302882; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898640508986405089864050-
NM_002693.3(POLG):c.2924A>G (p.Gln975Arg)5428POLGUncertain significance972611793RCV000796667; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898640548986405415:g.89864054T>C-
NM_002693.3(POLG):c.2915G>A (p.Arg972Gln)5428POLGUncertain significance200309005RCV000758463|RCV000727299; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898640638986406315:g.89864063C>TClinGen:CA316725CN169374 not specified;
NM_002693.3(POLG):c.2914C>T (p.Arg972Trp)5428POLGUncertain significance762972003RCV000188593|RCV001053326; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986406489864064NC_000015.9:g.89864064G>AClinGen:CA316723CN169374 not specified;
NM_002693.3(POLG):c.2913C>A (p.His971Gln)5428POLGUncertain significance-1RCV003054028; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986406589864065NC_000015.9:g.89864065G>T-
NM_002693.3(POLG):c.2911C>T (p.His971Tyr)5428POLGUncertain significance-1RCV002676602; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986406789864067NC_000015.9:g.89864067G>A-
NM_002693.3(POLG):c.2902C>A (p.Gln968Lys)5428POLGUncertain significance-1RCV003054833; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986407689864076NC_000015.9:g.89864076G>T-
NM_002693.3(POLG):c.2896C>T (p.Leu966=)5428POLGLikely benign1187151579RCV000758523; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986408289864082NC_000015.9:g.89864082G>A-
NM_002693.3(POLG):c.2891G>A (p.Arg964His)5428POLGUncertain significance767339769RCV002008786; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898640878986408789864087-
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)5428POLGConflicting interpretations of pathogenicity201477273RCV000188591|RCV000490261|RCV000633558|RCV000984890|RCV001808469|RCV001847830|RCV002282023|RCV002247604|RCV002317145|RCV003232987; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|Human Phenotype Ontology:HP:0007263,MeSH:D020754,MedGe15898640888986408815:g.89864088G>AClinGen:CA316719C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NM_002693.3(POLG):c.2889G>A (p.Glu963=)5428POLGLikely benign-1RCV003023824; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986408989864089-
NM_002693.3(POLG):c.2885C>T (p.Ala962Val)5428POLGUncertain significance-1RCV002705239; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986409389864093NC_000015.9:g.89864093G>A-
NM_002693.3(POLG):c.2884G>A (p.Ala962Thr)5428POLGUncertain significance760305377RCV000731013|RCV001047525; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986409489864094NC_000015.9:g.89864094C>T-
NM_002693.3(POLG):c.2883T>C (p.Phe961=)5428POLGLikely benign-1RCV002801527; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986409589864095-
NM_002693.3(POLG):c.2880C>T (p.Pro960=)5428POLGConflicting interpretations of pathogenicity752500492RCV000549125|RCV000727181|RCV001848746; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:68515898640988986409815:g.89864098G>AClinGen:CA7724332CN169374 not specified;
NM_002693.3(POLG):c.2878C>T (p.Pro960Ser)5428POLGConflicting interpretations of pathogenicity373298169RCV000730224|RCV001034291|RCV003420299; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|158986410089864100NC_000015.9:g.89864100G>A-
NM_002693.3(POLG):c.2874G>T (p.Gly958=)5428POLGLikely benign1567186563RCV000758522; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986410489864104NC_000015.9:g.89864104C>A-
NM_002693.3(POLG):c.2871T>C (p.Ala957=)5428POLGLikely benign376459207RCV001398563; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898641078986410789864107-
NM_002693.3(POLG):c.2865T>C (p.Tyr955=)5428POLGConflicting interpretations of pathogenicity1567186574RCV000730202|RCV003106041; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986411389864113NC_000015.9:g.89864113A>G-
NM_002693.3(POLG):c.2861T>C (p.Ile954Thr)5428POLGUncertain significance2152060969RCV001909998; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898641178986411789864117-
NM_002693.3(POLG):c.2860A>G (p.Ile954Val)5428POLGUncertain significance778008501RCV001971546; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898641188986411889864118-
NM_002693.3(POLG):c.2858G>A (p.Arg953His)5428POLGConflicting interpretations of pathogenicity1567186581RCV000758462; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986412089864120NC_000015.9:g.89864120C>T-
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)5428POLGConflicting interpretations of pathogenicity11546842RCV000175301|RCV000758266|RCV001808449|RCV003323426; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MedGen:C476351915898641218986412115:g.89864121G>AClinGen:CA241026,UniProtKB:P54098#VAR_023681CN169374 not specified;
NM_002693.3(POLG):c.2854G>A (p.Gly952Ser)5428POLGConflicting interpretations of pathogenicity531744363RCV000758461; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986412489864124NC_000015.9:g.89864124C>T-
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)5428POLGConflicting interpretations of pathogenicity41546712RCV000186650|RCV000471041|RCV000712796|RCV001116417|RCV001847751|RCV002316396; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MedGen:C4763519|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123158986412589864125NC_000015.9:g.89864125G>AClinGen:CA232559CN169374 not specified;
NM_002693.3(POLG):c.2845_2847del (p.Phe949del)5428POLGUncertain significance1567186596RCV000758314; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986413189864133NC_000015.9:g.89864133_89864135del-
NM_002693.3(POLG):c.2839A>G (p.Lys947Glu)5428POLGUncertain significance2152060982RCV001944144; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898641398986413989864139-
NM_002693.3(POLG):c.2834A>T (p.His945Leu)5428POLGUncertain significance-1RCV003064292; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986414489864144NC_000015.9:g.89864144T>A-
NM_002693.3(POLG):c.2830G>A (p.Glu944Lys)5428POLGUncertain significance768653086RCV000188589|RCV000633532|RCV001116418|RCV002433850; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MeSH:D030342,MedGen:C095012315898641488986414815:g.89864148C>TClinGen:CA316715CN517202 not provided;
NM_002693.3(POLG):c.2829T>C (p.Arg943=)5428POLGLikely benign774005462RCV001416519|RCV001569620; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898641498986414989864149-
NM_002693.3(POLG):c.2827_2828insTCA (p.Arg943delinsLeuSer)5428POLGConflicting interpretations of pathogenicity2152060994RCV001562575|RCV002573176; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898641508986415189864150-
NM_002693.3(POLG):c.2823C>A (p.Ile941=)5428POLGLikely benign1351580439RCV002213119; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898641558986415589864155-
NM_002693.3(POLG):c.2820C>T (p.Gly940=)5428POLGLikely benign571319491RCV001346750; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898641588986415889864158-
NM_002693.3(POLG):c.2815G>A (p.Val939Met)5428POLGUncertain significance748045254RCV000463058|RCV001764376; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158986416389864163NC_000015.9:g.89864163C>TClinGen:CA7724342C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2814T>C (p.Thr938=)5428POLGLikely benign771822843RCV000427979|RCV000758379; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898641648986416415:g.89864164A>GClinGen:CA7724343CN169374 not specified;
NM_002693.3(POLG):c.2808C>G (p.Ala936=)5428POLGConflicting interpretations of pathogenicity1370721886RCV000593313|RCV001474476; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898641708986417015:g.89864170G>CClinGen:CA492289048CN169374 not specified;
NM_002693.3(POLG):c.2803A>T (p.Thr935Ser)5428POLGUncertain significance760431841RCV002926968; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986417589864175NC_000015.9:g.89864175T>A-
NM_002693.3(POLG):c.2802G>A (p.Lys934=)5428POLGLikely benign-1RCV003049100; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986417689864176-
NM_002693.3(POLG):c.2799T>C (p.Ser933=)5428POLGLikely benign765916932RCV001466708; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898641798986417989864179-
NM_002693.3(POLG):c.2791C>A (p.Leu931Ile)5428POLGUncertain significance1567186644RCV000758458; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986418789864187NC_000015.9:g.89864187G>T-
NM_002693.3(POLG):c.2782G>A (p.Gly928Ser)5428POLGUncertain significance759944038RCV001372626|RCV003399183; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898641968986419689864196-
NM_002693.3(POLG):c.2782G>T (p.Gly928Cys)5428POLGUncertain significance-1RCV002628114; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986419689864196NC_000015.9:g.89864196C>A-
NM_002693.3(POLG):c.2778C>G (p.Ser926Arg)5428POLGUncertain significance1347519358RCV001343612; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898642008986420089864200-
NM_002693.3(POLG):c.2777G>A (p.Ser926Asn)5428POLGUncertain significance752971760RCV001332167; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898642018986420189864201-
NM_002693.3(POLG):c.2762T>C (p.Leu921Pro)5428POLGUncertain significance2152061053RCV001864112; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898642168986421689864216-
NM_002693.3(POLG):c.2761C>A (p.Leu921Met)5428POLGUncertain significance-1RCV002750294; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986421789864217NC_000015.9:g.89864217G>T-
NM_002693.3(POLG):c.2751G>T (p.Gly917=)5428POLGLikely benign2152061065RCV001472933; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898642278986422789864227-
NM_002693.3(POLG):c.2743G>A (p.Ala915Thr)5428POLGUncertain significance-1RCV002475512|RCV002569409; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986423589864235NC_000015.9:g.89864235C>T-
NM_002693.3(POLG):c.2735-4C>G5428POLGLikely benign1417499460RCV001462233; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898642478986424715:g.89864247G>C-
NM_002693.3(POLG):c.2735-7C>G5428POLGConflicting interpretations of pathogenicity200372494RCV000127528|RCV000463735|RCV000658724|RCV001116419; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MedGen:C4763519158986425089864250NC_000015.9:g.89864250G>CClinGen:CA292837CN517202 not provided;
NM_002693.3(POLG):c.2735-7C>T5428POLGLikely benign-1RCV002596907; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986425089864250NC_000015.9:g.89864250G>A-
NM_002693.3(POLG):c.2735-12C>T5428POLGLikely benign-1RCV002609891; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986425589864255NC_000015.9:g.89864255G>A-
NM_002693.3(POLG):c.2735-15C>T5428POLGBenign41544115RCV000127527|RCV000758399; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986425889864258NC_000015.9:g.89864258G>AClinGen:CA292836CN169374 not specified;
NM_002693.3(POLG):c.2735-15C>A5428POLGLikely benign-1RCV002603091; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986425889864258NC_000015.9:g.89864258G>T-
NM_002693.3(POLG):c.2735-20C>G5428POLGLikely benign2055387848RCV002182159; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898642638986426389864263-
NM_002693.3(POLG):c.2735-42A>G5428POLGLikely benign1258121070RCV000758378; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986428589864285NC_000015.9:g.89864285T>C-
NM_002693.3(POLG):c.2734+39_2734+40insAGGT5428POLGBenign2307433RCV000758398|RCV001619836; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158986431689864317NC_000015.9:g.89864318_89864319insACCT-
NM_002693.3:c.2734+39_2734+40insAGGT5428POLGBenign2152061162RCV001789576|RCV001789577|RCV001789573|RCV001789575|RCV001789574; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MOND15898643168986431789864316-
NM_002693.3(POLG):c.2734+15G>A5428POLGLikely benign1348282253RCV002149662; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898643418986434189864341-
NM_002693.3(POLG):c.2734+14G>A5428POLGLikely benign-1RCV003086188; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986434289864342NC_000015.9:g.89864342C>T-
NM_002693.3(POLG):c.2734+14G>T5428POLGLikely benign-1RCV002949091; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986434289864342NC_000015.9:g.89864342C>A-
NM_002693.3(POLG):c.2734+13C>T5428POLGLikely benign756271228RCV002160320; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898643438986434389864343-
NM_002693.3(POLG):c.2734+7A>C5428POLGLikely benign780023979RCV001492342; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898643498986434915:g.89864349T>G-
NM_002693.3(POLG):c.2734+3G>A5428POLGUncertain significance2055389780RCV001224718; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898643538986435315:g.89864353C>T-
NM_002693.3(POLG):c.2728A>G (p.Met910Val)5428POLGUncertain significance1260783813RCV001338105; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898643628986436289864362-
NM_002693.3(POLG):c.2727C>T (p.Gly909=)5428POLGUncertain significance752611524RCV000428928|RCV000459424; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898643638986436315:g.89864363G>AClinGen:CA7724377CN169374 not specified;
NM_002693.3(POLG):c.2725G>A (p.Gly909Ser)5428POLGUncertain significance758419140RCV001287898|RCV001871700; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898643658986436589864365-
NM_002693.3(POLG):c.2724C>T (p.Ala908=)5428POLGConflicting interpretations of pathogenicity377390914RCV000188516|RCV000676322|RCV001080845|RCV001116420|RCV002453613; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MeSH:D030342,MedGen:C095012315898643668986436615:g.89864366G>AClinGen:CA240872CN517202 not provided;
NM_002693.3(POLG):c.2721T>C (p.Phe907=)5428POLGLikely benign746863564RCV001725903|RCV002538692; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898643698986436989864369-
NM_002693.3(POLG):c.2715C>A (p.Ala905=)5428POLGLikely benign-1RCV002612323; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986437589864375-
NM_002693.3(POLG):c.2713G>A (p.Ala905Thr)5428POLGUncertain significance747156457RCV001890105; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898643778986437789864377-
NM_002693.3(POLG):c.2712C>G (p.Asp904Glu)5428POLGUncertain significance770458126RCV000536625; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898643788986437815:g.89864378G>CClinGen:CA393753525C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2712C>T (p.Asp904=)5428POLGLikely benign-1RCV002606220; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986437889864378-
NM_002693.3(POLG):c.2704C>G (p.Leu902Val)5428POLGUncertain significance745528696RCV000728575|RCV001052151|RCV002485861|RCV002535079; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MeSH:D030342,MedGen:C0950123158986438689864386NC_000015.9:g.89864386G>C-
NM_002693.3(POLG):c.2703G>A (p.Val901=)5428POLGLikely benign-1RCV002609854; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986438789864387-
NM_002693.3(POLG):c.2688G>A (p.Leu896=)5428POLGLikely benign769306875RCV000758377; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986440289864402NC_000015.9:g.89864402C>T-
NM_002693.3(POLG):c.2687T>C (p.Leu896Pro)5428POLGUncertain significance-1RCV002824813; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986440389864403NC_000015.9:g.89864403A>G-
NM_002693.3(POLG):c.2686C>G (p.Leu896Val)5428POLGUncertain significance-1RCV003095687; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986440489864404NC_000015.9:g.89864404G>C-
NM_002693.3(POLG):c.2682A>G (p.Gln894=)5428POLGLikely benign1212288449RCV001929964; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898644088986440889864408-
NM_002693.3(POLG):c.2681A>C (p.Gln894Pro)5428POLGUncertain significance2152061241RCV002265113|RCV003095984; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898644098986440989864409-
NM_002693.3(POLG):c.2676C>T (p.Asp892=)5428POLGLikely benign-1RCV002816022; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986441489864414-
NM_002693.3(POLG):c.2673G>C (p.Val891=)5428POLGLikely benign2152061246RCV001478844; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898644178986441789864417-
NM_002693.3(POLG):c.2668G>C (p.Asp890His)5428POLGUncertain significance-1RCV002629015; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986442289864422NC_000015.9:g.89864422C>G-
NM_002693.3(POLG):c.2667T>C (p.Ala889=)5428POLGLikely benign-1RCV002866519; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986442389864423-
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)5428POLGConflicting interpretations of pathogenicity763393580RCV000518474|RCV000695266|RCV000844909|RCV002438244; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN180166|MeSH:D030342,MedGen:C095012315898644258986442515:g.89864425C>TClinGen:CA7724385CN517202 not provided;
NM_002693.3(POLG):c.2663G>A (p.Gly888Asp)5428POLGConflicting interpretations of pathogenicity878854560RCV000227514; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986442789864427NC_000015.9:g.89864427C>TClinGen:CA10583269C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2654C>T (p.Thr885Ile)5428POLGUncertain significance1224799376RCV000758313; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986443689864436NC_000015.9:g.89864436G>A-
NM_002693.3(POLG):c.2654C>G (p.Thr885Ser)5428POLGUncertain significance1224799376RCV000798129; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898644368986443615:g.89864436G>C-
NM_002693.3(POLG):c.2653A>G (p.Thr885Ala)5428POLGUncertain significance1312677626RCV000733328|RCV002536496; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986443789864437NC_000015.9:g.89864437T>C-
NM_002693.3(POLG):c.2652C>T (p.Tyr884=)5428POLGLikely benign-1RCV002785806; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986443889864438-
NM_002693.3(POLG):c.2651A>G (p.Tyr884Cys)5428POLGUncertain significance1057519140RCV000415811|RCV001851009; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898644398986443915:g.89864439T>CClinGen:CA16043779CN517202 not provided;
NM_002693.3(POLG):c.2642C>T (p.Pro881Leu)5428POLGConflicting interpretations of pathogenicity375935084RCV000690021|RCV000734714|RCV001117864; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MedGen:C476351915898644488986444815:g.89864448G>AClinGen:CA316861CN169374 not specified;
NM_002693.3(POLG):c.2641C>T (p.Pro881Ser)5428POLGUncertain significance-1RCV002670996; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986444989864449NC_000015.9:g.89864449G>A-
NM_002693.3(POLG):c.2640C>T (p.Ala880=)5428POLGLikely benign1236111354RCV000603057|RCV001490961; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898644508986445015:g.89864450G>AClinGen:CA492289501CN169374 not specified;
NM_002693.3(POLG):c.2638G>T (p.Ala880Ser)5428POLGUncertain significance760842197RCV001368976; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898644528986445289864452-
NM_002693.3(POLG):c.2637G>A (p.Gln879=)5428POLGLikely benign2152061296RCV001424126; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898644538986445389864453-
NM_002693.3(POLG):c.2636A>G (p.Gln879Arg)5428POLGConflicting interpretations of pathogenicity368587966RCV000188586|RCV000758312; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986445489864454NC_000015.9:g.89864454T>CClinGen:CA316709CN517202 not provided;
NM_002693.3(POLG):c.2629A>G (p.Met877Val)5428POLGUncertain significance-1RCV002574468; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986446189864461NC_000015.9:g.89864461T>C-
NM_002693.3(POLG):c.2628C>T (p.Ala876=)5428POLGLikely benign1422065234RCV001443528; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898644628986446215:g.89864462G>AClinGen:CA492073267C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2622G>A (p.Leu874=)5428POLGLikely benign-1RCV002942813; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986446889864468-
NM_002693.3(POLG):c.2620T>A (p.Leu874Met)5428POLGConflicting interpretations of pathogenicity758402960RCV000188585|RCV000758311|RCV000766616|RCV003441772; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298158986447089864470NC_000015.9:g.89864470A>TClinGen:CA316707CN169374 not specified;
NM_002693.3(POLG):c.2616T>C (p.Ser872=)5428POLGLikely benign2152061306RCV001457610; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898644748986447489864474-
NM_002693.3(POLG):c.2613C>T (p.Gly871=)5428POLGLikely benign372878701RCV000440619|RCV001051078; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898644778986447715:g.89864477G>AClinGen:CA7724392CN169374 not specified;
NM_002693.3(POLG):c.2608G>C (p.Val870Leu)5428POLGUncertain significance1329611992RCV001247893|RCV002473242; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898644828986448215:g.89864482C>G-
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln)5428POLGConflicting interpretations of pathogenicity1356604153RCV000503882|RCV000758310; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986448489864484NC_000015.9:g.89864484C>TClinGen:CA10602235CN169374 not specified;
NM_002693.3(POLG):c.2604C>T (p.Asp868=)5428POLGLikely benign-1RCV002614602; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986448689864486-
NM_002693.3(POLG):c.2601T>C (p.Pro867=)5428POLGConflicting interpretations of pathogenicity201749977RCV000127526|RCV000403402|RCV000709782|RCV000734626|RCV001457683; NMedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,158986448989864489NC_000015.9:g.89864489A>GClinGen:CA292834CN169374 not specified;
NM_002693.3(POLG):c.2600C>G (p.Pro867Arg)5428POLGUncertain significance780880601RCV000633549; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898644908986449015:g.89864490G>CClinGen:CA7724394C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2599-4A>G5428POLGLikely benign2152061319RCV002162151; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898644958986449589864495-
NM_002693.3(POLG):c.2599-5del5428POLGLikely benign746472843RCV001227174; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898644968986449615:g.89864496_89864496del-
NM_002693.3(POLG):c.2599-10C>T5428POLGConflicting interpretations of pathogenicity769346219RCV000593139|RCV000726881|RCV001442687; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898645018986450115:g.89864501G>AClinGen:CA7724397CN169374 not specified;
NM_002693.3(POLG):c.2599-12C>T5428POLGLikely benign-1RCV003053062; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986450389864503NC_000015.9:g.89864503G>A-
NM_002693.3(POLG):c.2599-14C>T5428POLGBenign/Likely benign587781115RCV000127525|RCV002514684; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986450589864505NC_000015.9:g.89864505G>AClinGen:CA292833CN169374 not specified;
NM_002693.3(POLG):c.2599-24T>C5428POLGLikely benign368659678RCV000758375; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986451589864515NC_000015.9:g.89864515A>G-
NM_002693.3(POLG):c.2599-40G>T5428POLGLikely benign55792683RCV000758376|RCV001592943; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158986453189864531NC_000015.9:g.89864531C>A-
NM_002693.3(POLG):c.2598+28T>A5428POLGLikely benign1020120703RCV000758374; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986493989864939NC_000015.9:g.89864939A>T-
NM_002693.3(POLG):c.2598+15T>G5428POLGConflicting interpretations of pathogenicity1057520997RCV000418954|RCV002519519; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898649528986495215:g.89864952A>CClinGen:CA16607061CN169374 not specified;
NM_002693.3(POLG):c.2598+12C>T5428POLGLikely benign1243982675RCV002150174; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898649558986495589864955-
NM_002693.3(POLG):c.2598+9C>T5428POLGLikely benign-1RCV003085619; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986495889864958NC_000015.9:g.89864958G>A-
NM_002693.3(POLG):c.2597G>A (p.Arg866Gln)5428POLGUncertain significance779723962RCV000413508|RCV001861428|RCV003311804; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898649688986496815:g.89864968C>TClinGen:CA7724416CN169374 not specified;
NM_002693.3(POLG):c.2596C>T (p.Arg866Trp)5428POLGUncertain significance748777396RCV000591696|RCV000690248|RCV002438544; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898649698986496915:g.89864969G>AClinGen:CA7724418CN169374 not specified;
NM_002693.3(POLG):c.2595C>T (p.Ala865=)5428POLGLikely benign-1RCV003068691; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986497089864970-
NM_002693.3(POLG):c.2591A>T (p.Asn864Ile)5428POLGConflicting interpretations of pathogenicity121918050RCV000795150; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898649748986497415:g.89864974T>A-
NM_002693.3(POLG):c.2583C>T (p.Thr861=)5428POLGLikely benign372456693RCV000862449|RCV001441621; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898649828986498215:g.89864982G>A-
NM_002693.3(POLG):c.2574A>G (p.Thr858=)5428POLGLikely benign-1RCV003071354; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986499189864991-
NM_002693.3(POLG):c.2573C>T (p.Thr858Ile)5428POLGConflicting interpretations of pathogenicity759128787RCV000758454|RCV001536256|RCV002424756; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MeSH:D030342,MedGen:C0950123158986499289864992NC_000015.9:g.89864992G>A-
NM_002693.3(POLG):c.2571C>T (p.Pro857=)5428POLGLikely benign-1RCV002795957; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986499489864994-
NM_002693.3(POLG):c.2566G>A (p.Glu856Lys)5428POLGUncertain significance1032930719RCV001336496|RCV002466665; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898649998986499989864999-
NM_002693.3(POLG):c.2564T>C (p.Val855Ala)5428POLGConflicting interpretations of pathogenicity963553787RCV000758453|RCV003225118; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158986500189865001NC_000015.9:g.89865001A>G-
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)5428POLGConflicting interpretations of pathogenicity121918053RCV000014466|RCV000560575|RCV001449754|RCV003333951|RCV003330388; NMONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041, Orphanet:3569815898650088986500815:g.89865008G>AClinGen:CA256899,UniProtKB:P54098#VAR_058889,OMIM:174763.0018C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
NM_002693.3(POLG):c.2546C>A (p.Thr849Asn)5428POLGUncertain significance-1RCV003030137; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986501989865019NC_000015.9:g.89865019G>T-
NM_002693.3(POLG):c.2541C>T (p.Ala847=)5428POLGConflicting interpretations of pathogenicity143810171RCV000127524|RCV000470778|RCV000710185|RCV001117865|RCV002316395; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MedGen:C4763519|MeSH:D030342,MedGen:C0950123158986502489865024NC_000015.9:g.89865024G>AClinGen:CA292831CN169374 not specified;
NM_002693.3(POLG):c.2533G>T (p.Val845Leu)5428POLGUncertain significance766185908RCV001047527; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898650328986503215:g.89865032C>A-
NM_002693.3(POLG):c.2532G>C (p.Val844=)5428POLGLikely benign2152061718RCV001472109; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898650338986503389865033-
NM_002693.3(POLG):c.2529A>G (p.Gln843=)5428POLGConflicting interpretations of pathogenicity369395629RCV000188579|RCV000798168; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898650368986503615:g.89865036T>CClinGen:CA316699CN169374 not specified;
NM_002693.3(POLG):c.2527C>G (p.Gln843Glu)5428POLGUncertain significance-1RCV003016898; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986503889865038NC_000015.9:g.89865038G>C-
NM_002693.3(POLG):c.2526C>T (p.Pro842=)5428POLGLikely benign758903771RCV000758373; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986503989865039NC_000015.9:g.89865039G>A-
NM_002693.3(POLG):c.2525C>A (p.Pro842His)5428POLGUncertain significance-1RCV003053954; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986504089865040NC_000015.9:g.89865040G>T-
NM_002693.3(POLG):c.2513G>A (p.Gly838Glu)5428POLGUncertain significance2055400568RCV001301312; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898650528986505289865052-
NM_002693.3(POLG):c.2511T>C (p.Tyr837=)5428POLGLikely benign1555452884RCV000614775|RCV002063124; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898650548986505415:g.89865054A>GClinGen:CA492074751CN169374 not specified;
NM_002693.3(POLG):c.2510A>G (p.Tyr837Cys)5428POLGUncertain significance778190998RCV000202778|RCV000465346|RCV002478722; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions158986505589865055NC_000015.9:g.89865055T>CClinGen:CA248972CN169374 not specified;
NM_002693.3(POLG):c.2509T>C (p.Tyr837His)5428POLGUncertain significance544828395RCV000518238|RCV001210666|RCV001764514|RCV003338630; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640158986505689865056NC_000015.9:g.89865056A>GClinGen:CA7724435CN169374 not specified;
NM_002693.3(POLG):c.2508C>T (p.Leu836=)5428POLGLikely benign183811122RCV000543640|RCV001706663; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158986505789865057NC_000015.9:g.89865057G>AClinGen:CA7724436C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2508C>G (p.Leu836=)5428POLGLikely benign-1RCV003078773; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986505789865057-
NM_002693.3(POLG):c.2505C>A (p.Gly835=)5428POLGLikely benign-1RCV002863683; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986506089865060-
NM_002693.3(POLG):c.2496T>G (p.Asp832Glu)5428POLGUncertain significance762985241RCV000188578|RCV001852490; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986506989865069NC_000015.9:g.89865069A>CClinGen:CA316697CN169374 not specified;
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys)5428POLGBenign/Likely benign41549716RCV000014463|RCV000175036|RCV000224425|RCV000464026|RCV001117866|RCV001847604|RCV002313711; NMONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C095012315898650738986507315:g.89865073T>CClinGen:CA256897,UniProtKB:P54098#VAR_023674,OMIM:174763.0015C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.3(POLG):c.2488G>A (p.Asp830Asn)5428POLGConflicting interpretations of pathogenicity-1RCV002430885|RCV002473384|RCV003101877; NMeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898650778986507789865077-
NM_002693.3(POLG):c.2488G>T (p.Asp830Tyr)5428POLGUncertain significance-1RCV002824171; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986507789865077NC_000015.9:g.89865077C>A-
NM_002693.3(POLG):c.2487C>T (p.Pro829=)5428POLGConflicting interpretations of pathogenicity147563527RCV000291085|RCV000726206|RCV001087373; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898650788986507815:g.89865078G>AClinGen:CA7724444CN169374 not specified;
NM_002693.3(POLG):c.2485C>T (p.Pro829Ser)5428POLGUncertain significance906230544RCV001903884|RCV002490228; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898650808986508089865080-
NM_002693.3(POLG):c.2483A>G (p.His828Arg)5428POLGUncertain significance533807211RCV000758449; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986508289865082NC_000015.9:g.89865082T>C-
NM_002693.3(POLG):c.2483A>T (p.His828Leu)5428POLGUncertain significance533807211RCV001046081|RCV001357256; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898650828986508215:g.89865082T>A-
NM_002693.3(POLG):c.2482C>G (p.His828Asp)5428POLGUncertain significance2152061770RCV002045042; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898650838986508389865083-
NM_002693.3(POLG):c.2481-4C>G5428POLGUncertain significance764833370RCV001997049|RCV002563517|RCV003232480; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:C366190015898650888986508889865088-
NM_002693.3(POLG):c.2481-6C>T5428POLGBenign/Likely benign752226219RCV000188515|RCV000931489|RCV002054219; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986509089865090NC_000015.9:g.89865090G>AClinGen:CA316592CN169374 not specified;
NM_002693.3(POLG):c.2481-7C>T5428POLGConflicting interpretations of pathogenicity2307448RCV000212876|RCV000474664|RCV000676323|RCV001117867|RCV001327991|RCV001847750; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MedGen:C4763519|Human Phenotype Ontology:HP:0002394,Human Phenotype Ontology:HP:0030051,Human Phenotype Ontology:HP:0040083,MedGen:C0427144|MONDO:MONDO:0019064,158986509189865091NC_000015.9:g.89865091G>AClinGen:CA292830CN517202 not provided;
NM_002693.3(POLG):c.2481-9C>A5428POLGLikely benign369422789RCV000535686; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986509389865093NC_000015.9:g.89865093G>TClinGen:CA619857617C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2481-9C>T5428POLGLikely benign-1RCV002795507; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986509389865093NC_000015.9:g.89865093G>A-
NM_002693.3(POLG):c.2481-10A>C5428POLGConflicting interpretations of pathogenicity555280530RCV000395822|RCV000468935|RCV000734135; NMedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158986509489865094NC_000015.9:g.89865094T>GClinGen:CA7724448CN169374 not specified;
NM_002693.3(POLG):c.2481-11C>T5428POLGLikely benign-1RCV002967989; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986509589865095NC_000015.9:g.89865095G>A-
NM_002693.3(POLG):c.2481-13T>G5428POLGLikely benign2152061781RCV002170453; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898650978986509789865097-
NM_002693.3(POLG):c.2481-26C>T5428POLGLikely benign112776049RCV000758371; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986511089865110NC_000015.9:g.89865110G>A-
NM_002693.3(POLG):c.2481-44A>T5428POLGLikely benign370712401RCV000758372; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986512889865128NC_000015.9:g.89865128T>A-
NM_002693.3(POLG):c.2480+19T>C5428POLGLikely benign-1RCV002886431; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986517489865174NC_000015.9:g.89865174A>G-
NM_002693.3(POLG):c.2480+17G>A5428POLGBenign/Likely benign762669285RCV000188514|RCV002054218; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898651768986517615:g.89865176C>TClinGen:CA316591CN169374 not specified;
NM_002693.3(POLG):c.2480+9T>A5428POLGUncertain significance2055403170RCV001069239; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898651848986518415:g.89865184A>T-
NM_002693.3(POLG):c.2480+5G>C5428POLGUncertain significance1229969606RCV000559664; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986518889865188NC_000015.9:g.89865188C>GClinGen:CA619857631C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2473G>T (p.Val825Leu)5428POLGUncertain significance1344797678RCV001864214; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898652008986520089865200-
NM_002693.3(POLG):c.2472T>G (p.Ala824=)5428POLGLikely benign-1RCV003045030; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986520189865201-
NM_002693.3(POLG):c.2471C>T (p.Ala824Val)5428POLGUncertain significance1378795521RCV001776602|RCV002544213; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898652028986520289865202-
NM_002693.3(POLG):c.2468G>A (p.Arg823His)5428POLGUncertain significance751172552RCV000517451|RCV000765241|RCV001851452|RCV002269283; NMedGen:CN169374|6 conditions|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158986520589865205NC_000015.9:g.89865205C>TClinGen:CA7724466CN169374 not specified;
NM_002693.3(POLG):c.2467C>T (p.Arg823Cys)5428POLGUncertain significance757835879RCV000188576|RCV001066948|RCV002426912; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898652068986520615:g.89865206G>AClinGen:CA316693CN169374 not specified;
NM_002693.3(POLG):c.2460T>C (p.Ala820=)5428POLGLikely benign-1RCV003067749; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986521389865213-
NM_002693.3(POLG):c.2458G>A (p.Ala820Thr)5428POLGUncertain significance-1RCV002838239; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986521589865215NC_000015.9:g.89865215C>T-
NM_002693.3(POLG):c.2454G>T (p.Arg818Ser)5428POLGUncertain significance-1RCV003108658; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986521989865219NC_000015.9:g.89865219C>A-
NM_002693.3(POLG):c.2450C>T (p.Pro817Leu)5428POLGUncertain significance-1RCV002750817; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986522389865223NC_000015.9:g.89865223G>A-
NM_002693.3(POLG):c.2446C>G (p.Leu816Val)5428POLGUncertain significance748262645RCV000420712|RCV000758308|RCV003392237; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|15898652278986522715:g.89865227G>CClinGen:CA7724474CN169374 not specified;
NM_002693.3(POLG):c.2444G>T (p.Trp815Leu)5428POLGUncertain significance2055404128RCV001924841; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898652298986522989865229-
NM_002693.3(POLG):c.2437GTG[1] (p.Val814del)5428POLGConflicting interpretations of pathogenicity1596353095RCV000758307|RCV003396322|RCV003396321; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726||MedGen:C366190015898652318986523315:g.89865231_89865233del-
NM_002693.3(POLG):c.2435T>C (p.Met812Thr)5428POLGUncertain significance-1RCV002819942; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986523889865238NC_000015.9:g.89865238A>G-
NM_002693.3(POLG):c.2427-8C>T5428POLGLikely benign-1RCV003029746; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986525489865254NC_000015.9:g.89865254G>A-
NM_002693.3(POLG):c.2427-10G>C5428POLGLikely benign1435343052RCV002095044; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898652568986525689865256-
NM_002693.3(POLG):c.2427-12C>G5428POLGBenign199815957RCV000188513|RCV002054217; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986525889865258NC_000015.9:g.89865258G>CClinGen:CA316590CN169374 not specified;
NM_002693.3(POLG):c.2427-13T>C5428POLGLikely benign-1RCV003040889; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986525989865259NC_000015.9:g.89865259A>G-
NM_002693.3(POLG):c.2427-14G>C5428POLGLikely benign1247657513RCV000826283|RCV002067426; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898652608986526015:g.89865260C>G-
NM_002693.3(POLG):c.2427-16T>C5428POLGLikely benign769407407RCV000758369; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986526289865262NC_000015.9:g.89865262A>G-
NM_002693.3(POLG):c.2427-17G>A5428POLGLikely benign775367938RCV000612607|RCV002529766; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898652638986526315:g.89865263C>TClinGen:CA7724478CN169374 not specified;
NM_002693.3(POLG):c.2427-18C>T5428POLGLikely benign-1RCV002695859; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986526489865264NC_000015.9:g.89865264G>A-
NM_002693.3(POLG):c.2427-19A>G5428POLGLikely benign-1RCV002624156; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986526589865265NC_000015.9:g.89865265T>C-
NM_002693.3(POLG):c.2427-20C>T5428POLGLikely benign1567187412RCV000758370; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986526689865266NC_000015.9:g.89865266G>A-
NM_002693.3(POLG):c.2426+27G>A5428POLGBenign72762657RCV000758368; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986594689865946NC_000015.9:g.89865946C>T-
NM_002693.3(POLG):c.2426+20G>A5428POLGLikely benign-1RCV002903239; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986595389865953NC_000015.9:g.89865953C>T-
NM_002693.3(POLG):c.2426+17G>A5428POLGLikely benign572105844RCV000758521; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986595689865956NC_000015.9:g.89865956C>T-
NM_002693.3(POLG):c.2426+12T>C5428POLGLikely benign-1RCV003067257; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986596189865961NC_000015.9:g.89865961A>G-
NM_002693.3(POLG):c.2426+10C>G5428POLGUncertain significance1567187739RCV000758306; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986596389865963NC_000015.9:g.89865963G>C-
NM_002693.3(POLG):c.2426+6C>T5428POLGUncertain significance2055414347RCV001318952; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898659678986596789865967-
NM_002693.3(POLG):c.2425A>C (p.Ser809Arg)5428POLGUncertain significance2055414422RCV001201736; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898659748986597415:g.89865974T>G-
NM_002693.3(POLG):c.2424C>G (p.Ile808Met)5428POLGUncertain significance1567187747RCV000706227; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986597589865975NC_000015.9:g.89865975G>C-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)5428POLGConflicting interpretations of pathogenicity769827124RCV000261805|RCV000547242|RCV000678828|RCV000626194|RCV001263147; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726||MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:7059515898659808986598015:g.89865980G>AClinGen:CA7724495,UniProtKB:P54098#VAR_058887C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
NM_002693.3(POLG):c.2409C>T (p.Asn803=)5428POLGLikely benign1236942179RCV000758520; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986599089865990NC_000015.9:g.89865990G>A-
NM_002693.3(POLG):c.2405G>A (p.Arg802Lys)5428POLGUncertain significance545622947RCV001917453; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898659948986599489865994-
NM_002693.3(POLG):c.2392A>C (p.Ile798Leu)5428POLGUncertain significance796052873RCV000633533|RCV001711602; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898660078986600715:g.89866007T>GClinGen:CA316588CN169374 not specified;
NM_002693.3(POLG):c.2392A>G (p.Ile798Val)5428POLGUncertain significance796052873RCV001207887; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898660078986600715:g.89866007T>C-
NM_002693.3(POLG):c.2387A>G (p.Lys796Arg)5428POLGUncertain significance2055414967RCV001911574; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898660128986601289866012-
NM_002693.3(POLG):c.2384A>G (p.Asn795Ser)5428POLGUncertain significance2055414996RCV001332166; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898660158986601589866015-
NM_002693.3(POLG):c.2373T>C (p.Ala791=)5428POLGLikely benign-1RCV002646108; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986602689866026-
NM_002693.3(POLG):c.2369G>A (p.Arg790His)5428POLGUncertain significance191490663RCV000476234|RCV000724074|RCV001847808|RCV002312709|RCV002492738; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123|6 conditions15898660308986603015:g.89866030C>TClinGen:CA302756CN169374 not specified;
NM_002693.3(POLG):c.2368C>T (p.Arg790Cys)5428POLGUncertain significance775168496RCV000188574|RCV001852489; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898660318986603115:g.89866031G>AClinGen:CA316689CN169374 not specified;
NM_002693.3(POLG):c.2360G>C (p.Ser787Thr)5428POLGUncertain significance-1RCV002299036; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898660398986603989866039-
NM_002693.3(POLG):c.2354G>A (p.Gly785Asp)5428POLGUncertain significance149058889RCV000696306|RCV001117868|RCV001561401; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MedGen:CN517202158986604589866045NC_000015.9:g.89866045C>T-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2345G>T (p.Gly782Val)5428POLGUncertain significance-1RCV003077216; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986605489866054NC_000015.9:g.89866054C>A-
NM_002693.3(POLG):c.2341G>T (p.Ala781Ser)5428POLGUncertain significance-1RCV002731384; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986605889866058NC_000015.9:g.89866058C>A-
NM_002693.3(POLG):c.2337G>A (p.Leu779=)5428POLGLikely benign766945677RCV001452650; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898660628986606289866062-
NM_002693.3(POLG):c.2334C>A (p.Thr778=)5428POLGLikely benign-1RCV003120078; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986606589866065-
NM_002693.3(POLG):c.2324A>G (p.Glu775Gly)5428POLGUncertain significance2152062411RCV001902377; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898660758986607589866075-
NM_002693.3(POLG):c.2322G>A (p.Met774Ile)5428POLGUncertain significance754144065RCV001902378; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898660778986607789866077-
NM_002693.3(POLG):c.2322G>C (p.Met774Ile)5428POLGUncertain significance-1RCV003104728; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986607789866077NC_000015.9:g.89866077C>G-
NM_002693.3(POLG):c.2314C>T (p.Pro772Ser)5428POLGUncertain significance2152062414RCV001911485; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898660858986608589866085-
NM_002693.3(POLG):c.2309T>C (p.Phe770Ser)5428POLGUncertain significance-1RCV002766376; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986609089866090NC_000015.9:g.89866090A>G-
NM_002693.3(POLG):c.2299G>A (p.Ala767Thr)5428POLGUncertain significance-1RCV002672185; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986610089866100NC_000015.9:g.89866100C>T-
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr)5428POLGConflicting interpretations of pathogenicity1003442806RCV000530237; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986610689866106NC_000015.9:g.89866106G>TClinGen:CA10602222C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2287G>C (p.Gly763Arg)5428POLGConflicting interpretations of pathogenicity1567187837RCV000712793|RCV001796195|RCV001861978; NMedGen:CN517202|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986611289866112NC_000015.9:g.89866112C>G-
NM_002693.3(POLG):c.2283T>C (p.Asn761=)5428POLGLikely benign765593890RCV001397319; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898661168986611689866116-
NM_002693.3(POLG):c.2273A>G (p.Asn758Ser)5428POLGUncertain significance2152062441RCV001970568; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898661268986612689866126-
NM_002693.3(POLG):c.2268T>C (p.Asp756=)5428POLGLikely benign758644254RCV002123343; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898661318986613189866131-
NM_002693.3(POLG):c.2266-3C>T5428POLGUncertain significance777809569RCV001214911; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898661368986613615:g.89866136G>A-
NM_002693.3(POLG):c.2266-7T>C5428POLGLikely benign2152062447RCV001486256; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898661408986614089866140-
NM_002693.3(POLG):c.2266-8C>T5428POLGLikely benign1203561072RCV001482247; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898661418986614189866141-
NM_002693.3(POLG):c.2266-9T>C5428POLGLikely benign2152062448RCV002088897; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898661428986614289866142-
NM_002693.3(POLG):c.2266-11G>C5428POLGConflicting interpretations of pathogenicity747154432RCV000367320|RCV002056472; NMedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986614489866144NC_000015.9:g.89866144C>GClinGen:CA7724509CN239393 POLG-Related Spectrum Disorders;
NM_002693.3(POLG):c.2266-15C>A5428POLGLikely benign543286870RCV002152299; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898661488986614889866148-
NM_002693.3(POLG):c.2266-19C>T5428POLGBenign/Likely benign780096431RCV000188511|RCV002054216; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898661528986615215:g.89866152G>AClinGen:CA316587CN169374 not specified;
NM_002693.3(POLG):c.2266-44G>T5428POLGLikely benign1335068171RCV000758518; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986617789866177NC_000015.9:g.89866177C>A-
NM_002693.3(POLG):c.2266-48del5428POLGLikely benign766283304RCV000758519; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986618189866181NC_000015.9:g.89866181del-
NM_002693.3(POLG):c.2266-76T>C5428POLGBenign/Likely benign3176203RCV000758411|RCV001644798; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158986620989866209NC_000015.9:g.89866209A>G-
NM_002693.3(POLG):c.2265+16_2265+17dup5428POLGLikely benign-1RCV002979926; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986661789866618NC_000015.9:g.89866618_89866619dup-
NM_002693.3(POLG):c.2265+17G>A5428POLGUncertain significance2152062840RCV002005230; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898666188986661889866618-
NM_002693.3(POLG):c.2265+15A>G5428POLGLikely benign747993559RCV000758517; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986662089866620NC_000015.9:g.89866620T>C-
NM_002693.3(POLG):c.2265+15A>T5428POLGLikely benign747993559RCV002220772; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898666208986662089866620-
NM_002693.3(POLG):c.2265+8C>G5428POLGLikely benign-1RCV002852745; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986662789866627NC_000015.9:g.89866627G>C-
NM_002693.3(POLG):c.2265+7C>T5428POLGLikely benign371189501RCV001489722; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898666288986662889866628-
NM_002693.3(POLG):c.2265+6T>A5428POLGConflicting interpretations of pathogenicity746650160RCV001697862|RCV002531542; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898666298986662915:g.89866629A>TClinGen:CA7724535CN169374 not specified;
NM_002693.3(POLG):c.2265+5G>A5428POLGUncertain significance2055426347RCV001891497; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898666308986663089866630-
NM_002693.3(POLG):c.2265+5G>C5428POLGUncertain significance2055426347RCV002044225; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898666308986663089866630-
NM_002693.3(POLG):c.2265+1G>A5428POLGConflicting interpretations of pathogenicity-1RCV002475511|RCV002571546|RCV003395485; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|158986663489866634NC_000015.9:g.89866634C>T-
NM_002693.3(POLG):c.2264A>C (p.Lys755Thr)5428POLGConflicting interpretations of pathogenicity770438363RCV000598297|RCV000758303; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898666368986663615:g.89866636T>GClinGen:CA7724536CN169374 not specified;
NM_002693.3(POLG):c.2259T>G (p.Pro753=)5428POLGLikely benign2055426550RCV002156737|RCV003408106; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898666418986664189866641-
NM_002693.3(POLG):c.2258C>G (p.Pro753Arg)5428POLGUncertain significance-1RCV002283107|RCV003101620; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898666428986664289866642-
NM_002693.3(POLG):c.2257C>T (p.Pro753Ser)5428POLGUncertain significance1446536384RCV001358838|RCV002486496; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898666438986664389866643-
NM_002693.3(POLG):c.2257C>A (p.Pro753Thr)5428POLGUncertain significance1446536384RCV001893334; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898666438986664389866643-
NM_002693.3(POLG):c.2255T>C (p.Leu752Pro)5428POLGUncertain significance2055426653RCV001316822|RCV001796438|RCV002486247; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|6 conditions15898666458986664589866645-
NM_002693.3(POLG):c.2254C>T (p.Leu752=)5428POLGBenign41564016RCV000118013|RCV000275068|RCV000464149|RCV000676324|RCV001753495|RCV001847710|RCV002312229; NMedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedG15898666468986664615:g.89866646G>AClinGen:CA154728CN517202 not provided;
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)5428POLGConflicting interpretations of pathogenicity202037973RCV000188572|RCV000758416|RCV001263312|RCV001270867|RCV002514034|RCV003422087; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002158986665489866654NC_000015.9:g.89866654A>GClinGen:CA316685CN517202 not provided;
NM_002693.3(POLG):c.2245T>G (p.Phe749Val)5428POLGUncertain significance-1RCV003045051; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986665589866655NC_000015.9:g.89866655A>C-
NM_002693.3(POLG):c.2240G>A (p.Cys747Tyr)5428POLGUncertain significance1596354250RCV000801583; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898666608986666015:g.89866660C>T-
NM_002693.3(POLG):c.2238C>T (p.Gly746=)5428POLGLikely benign1455947188RCV002188992; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898666628986666289866662-
NM_002693.3(POLG):c.2235T>C (p.Pro745=)5428POLGLikely benign-1RCV003013577; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986666589866665-
NM_002693.3(POLG):c.2224G>A (p.Val742Met)5428POLGUncertain significance147827654RCV000758301; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986667689866676NC_000015.9:g.89866676C>T-
NM_002693.3(POLG):c.2223C>T (p.Asp741=)5428POLGLikely benign-1RCV002740090; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986667789866677-
NM_002693.3(POLG):c.2221G>A (p.Asp741Asn)5428POLGUncertain significance751736420RCV000546345|RCV000594899|RCV002431554|RCV003330754; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MedGen:CN16937415898666798986667915:g.89866679C>TClinGen:CA7724540CN169374 not specified;
NM_002693.3(POLG):c.2220C>T (p.Asn740=)5428POLGConflicting interpretations of pathogenicity141538857RCV000249671|RCV000539923|RCV000727336|RCV002313981; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123158986668089866680NC_000015.9:g.89866680G>AClinGen:CA7724541CN169374 not specified;
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp)5428POLGUncertain significance78347903RCV000712792|RCV001119420|RCV001372628|RCV002051721|RCV002317144|RCV003448281; NMedGen:C3661900|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0004648,MeSH:D015140,MedGen:C0011269|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,MedGen:C42251515898666828986668215:g.89866682T>CClinGen:CA316683CN169374 not specified;
NM_002693.3(POLG):c.2216A>T (p.Tyr739Phe)5428POLGUncertain significance1365039710RCV001872207; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898666848986668489866684-
NM_002693.3(POLG):c.2215T>C (p.Tyr739His)5428POLGUncertain significance796052885RCV000188570|RCV000822188; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986668589866685NC_000015.9:g.89866685A>GClinGen:CA316681CN169374 not specified;
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)5428POLGConflicting interpretations of pathogenicity138457939RCV000188567|RCV000231376|RCV000515256|RCV000712791|RCV001119421|RCV001252353|RCV002227937|RCV002314741; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MedGen:C3661900|MedGen:C4763519|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontolog158986669389866693NC_000015.9:g.89866693T>CClinGen:CA316678C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.3(POLG):c.2203G>C (p.Gly735Arg)5428POLGUncertain significance-1RCV002295205; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898666978986669789866697-
NM_002693.3(POLG):c.2201A>G (p.His734Arg)5428POLGUncertain significance56119329RCV001048557; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898666998986669915:g.89866699T>C-
NM_002693.3(POLG):c.2195A>G (p.Tyr732Cys)5428POLGUncertain significance760305786RCV000188566|RCV000814974; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898667058986670515:g.89866705T>CClinGen:CA316676CN169374 not specified;
NM_002693.3(POLG):c.2194T>C (p.Tyr732His)5428POLGUncertain significance1470138488RCV001911219; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898667068986670689866706-
NM_002693.3(POLG):c.2191A>G (p.Ser731Gly)5428POLGUncertain significance-1RCV003055057; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986670989866709NC_000015.9:g.89866709T>C-
NM_002693.3(POLG):c.2190C>G (p.Pro730=)5428POLGLikely benign146045546RCV002165513; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898667108986671089866710-
NM_002693.3(POLG):c.2187G>C (p.Gln729His)5428POLGUncertain significance539787090RCV001366193; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898667138986671389866713-
NM_002693.3(POLG):c.2183C>G (p.Thr728Ser)5428POLGUncertain significance-1RCV002605776; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986671789866717NC_000015.9:g.89866717G>C-
NM_002693.3(POLG):c.2179G>T (p.Asp727Tyr)5428POLGUncertain significance2152062930RCV001975658; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898667218986672189866721-
NM_002693.3(POLG):c.2177A>G (p.Lys726Arg)5428POLGUncertain significance774599342RCV000188565|RCV000729876|RCV000758300; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986672389866723NC_000015.9:g.89866723T>CClinGen:CA316674CN169374 not specified;
NM_002693.3(POLG):c.2175C>T (p.Pro725=)5428POLGLikely benign2152062935RCV001475714; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898667258986672589866725-
NM_002693.3(POLG):c.2172C>T (p.Gly724=)5428POLGLikely benign2152062939RCV001392401; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898667288986672889866728-
NM_002693.3(POLG):c.2168G>T (p.Gly723Val)5428POLGUncertain significance2055428060RCV001765234|RCV001847327|RCV001861078; NMedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898667328986673289866732-
NM_002693.3(POLG):c.2167G>A (p.Gly723Ser)5428POLGUncertain significance762070650RCV000817217; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898667338986673315:g.89866733C>T-
NM_002693.3(POLG):c.2167G>C (p.Gly723Arg)5428POLGUncertain significance762070650RCV001235092|RCV002567897; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898667338986673315:g.89866733C>G-
NM_002693.3(POLG):c.2167G>T (p.Gly723Cys)5428POLGUncertain significance762070650RCV001997688|RCV003234146; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN18016615898667338986673389866733-
NM_002693.3(POLG):c.2166T>C (p.Arg722=)5428POLGLikely benign767669686RCV002186714; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898667348986673489866734-
NM_002693.3(POLG):c.2165G>T (p.Arg722Leu)5428POLGUncertain significance185645212RCV000188564|RCV000758299|RCV002426911; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898667358986673515:g.89866735C>AClinGen:CA316672CN169374 not specified;
NM_002693.3(POLG):c.2165G>A (p.Arg722His)5428POLGBenign/Likely benign185645212RCV000420622|RCV001510028; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898667358986673515:g.89866735C>TClinGen:CA7724556CN169374 not specified;
NM_002693.3(POLG):c.2165G>C (p.Arg722Pro)5428POLGUncertain significance185645212RCV001222953; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898667358986673515:g.89866735C>G-
NM_002693.3(POLG):c.2164C>T (p.Arg722Cys)5428POLGUncertain significance763824242RCV000458565; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986673689866736NC_000015.9:g.89866736G>AClinGen:CA7724557C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2158-13G>A5428POLGBenign/Likely benign763930501RCV001716719|RCV002073336; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898667558986675589866755-
NM_002693.3(POLG):c.2158-16T>G5428POLGLikely benign-1RCV002820537; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986675889866758NC_000015.9:g.89866758A>C-
NM_002693.3(POLG):c.2158-17G>T5428POLGLikely benign1567188293RCV000758516; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986675989866759NC_000015.9:g.89866759C>A-
NM_002693.3(POLG):c.2158-17G>A5428POLGLikely benign-1RCV002745596; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986675989866759NC_000015.9:g.89866759C>T-
NM_002693.3(POLG):c.2158-20T>A5428POLGLikely benign374951133RCV002200716; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898667628986676289866762-
NM_002693.3(POLG):c.2158-20T>C5428POLGLikely benign374951133RCV002095226; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898667628986676289866762-
NM_002693.3(POLG):c.2157+15G>A5428POLGConflicting interpretations of pathogenicity766521182RCV000259254|RCV000431288|RCV000758515; NMedGen:C4763519|MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986703189867031NC_000015.9:g.89867031C>TClinGen:CA7724574CN169374 not specified;
NM_002693.3(POLG):c.2157+14C>T5428POLGLikely benign989119619RCV002204765; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898670328986703289867032-
NM_002693.3(POLG):c.2157+13C>G5428POLGLikely benign-1RCV003081458; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986703389867033NC_000015.9:g.89867033G>C-
NM_002693.3(POLG):c.2157+12G>A5428POLGLikely benign762919106RCV000444763|RCV002060041; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898670348986703415:g.89867034C>TClinGen:CA7724576CN169374 not specified;
NM_002693.3(POLG):c.2157+11C>T5428POLGConflicting interpretations of pathogenicity56411159RCV000127520|RCV000316850|RCV000758558; NMedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986703589867035NC_000015.9:g.89867035G>AClinGen:CA292829CN169374 not specified;
NM_002693.3(POLG):c.2157+11C>A5428POLGLikely benign-1RCV002876735; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986703589867035NC_000015.9:g.89867035G>T-
NM_002693.3(POLG):c.2157+10G>T5428POLGLikely benign751357356RCV000758557; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986703689867036NC_000015.9:g.89867036C>A-
NM_002693.3(POLG):c.2157+8G>T5428POLGLikely benign548035719RCV000605167|RCV001447624; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898670388986703815:g.89867038C>AClinGen:CA274550072CN169374 not specified;
NM_002693.3(POLG):c.2157+8G>A5428POLGLikely benign548035719RCV002205490; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898670388986703889867038-
NM_002693.3(POLG):c.2157+8G>C5428POLGLikely benign-1RCV002947119; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986703889867038NC_000015.9:g.89867038C>G-
NM_002693.3(POLG):c.2157+6C>T5428POLGUncertain significance1596354603RCV000815654; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898670408986704015:g.89867040G>A-
NM_002693.3(POLG):c.2157G>A (p.Leu719=)5428POLGUncertain significance2055432894RCV001051290; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898670468986704615:g.89867046C>T-
NM_002693.3(POLG):c.2153C>T (p.Ala718Val)5428POLGUncertain significance750036881RCV001773267|RCV002540583; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898670508986705089867050-
NM_002693.3(POLG):c.2152G>T (p.Ala718Ser)5428POLGUncertain significance755783536RCV000529308|RCV000729971; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898670518986705115:g.89867051C>AClinGen:CA7724581CN169374 not specified;
NM_002693.3(POLG):c.2149C>T (p.Leu717=)5428POLGConflicting interpretations of pathogenicity779515404RCV000553320|RCV000731157|RCV002429363; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C095012315898670548986705415:g.89867054G>AClinGen:CA7724582CN169374 not specified;
NM_002693.3(POLG):c.2147C>T (p.Pro716Leu)5428POLGUncertain significance-1RCV002299494; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898670568986705689867056-
NM_002693.3(POLG):c.2146C>T (p.Pro716Ser)5428POLGUncertain significance796052883RCV000727298|RCV002517006; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898670578986705715:g.89867057G>AClinGen:CA316670CN169374 not specified;
NM_002693.3(POLG):c.2145A>T (p.Gln715His)5428POLGUncertain significance796052882RCV000188562|RCV001050634; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986705889867058NC_000015.9:g.89867058T>AClinGen:CA316668CN169374 not specified;
NM_002693.3(POLG):c.2141G>C (p.Gly714Ala)5428POLGUncertain significance2152063163RCV001873112; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898670628986706289867062-
NM_002693.3(POLG):c.2140G>A (p.Gly714Ser)5428POLGUncertain significance2055433258RCV001055737; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898670638986706315:g.89867063C>T-
NM_002693.3(POLG):c.2137C>T (p.Pro713Ser)5428POLGUncertain significance-1RCV002602023; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986706689867066NC_000015.9:g.89867066G>A-
NM_002693.3(POLG):c.2134G>A (p.Val712Met)5428POLGUncertain significance748834542RCV000540848|RCV001836838|RCV002420377; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MeSH:D030342,MedGen:C0950123158986706989867069NC_000015.9:g.89867069C>TClinGen:CA274550116C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2134G>T (p.Val712Leu)5428POLGUncertain significance-1RCV002636010; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986706989867069NC_000015.9:g.89867069C>A-
NM_002693.3(POLG):c.2133A>G (p.Ala711=)5428POLGConflicting interpretations of pathogenicity1567188446RCV000730753|RCV002535169; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986707089867070NC_000015.9:g.89867070T>C-
NM_002693.3(POLG):c.2129C>T (p.Ala710Val)5428POLGUncertain significance2152063179RCV001875731; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898670748986707489867074-
NM_002693.3(POLG):c.2128G>A (p.Ala710Thr)5428POLGUncertain significance-1RCV002301436; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898670758986707589867075-
NM_002693.3(POLG):c.2126G>A (p.Arg709Gln)5428POLGUncertain significance1015705626RCV000758298|RCV002281126; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158986707789867077NC_000015.9:g.89867077C>T-
NM_002693.3(POLG):c.2125C>G (p.Arg709Gly)5428POLGUncertain significance867038717RCV000702167; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986707889867078NC_000015.9:g.89867078G>C-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2125C>A (p.Arg709=)5428POLGLikely benign-1RCV002867492; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986707889867078-
NM_002693.3(POLG):c.2124G>A (p.Leu708=)5428POLGLikely benign1372249434RCV001430575; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898670798986707989867079-
NM_002693.3(POLG):c.2122T>C (p.Leu708=)5428POLGLikely benign-1RCV002596831; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986708189867081-
NM_002693.3(POLG):c.2121C>A (p.Asn707Lys)5428POLGConflicting interpretations of pathogenicity755502359RCV000430154|RCV000758297|RCV000995415; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898670828986708215:g.89867082G>TClinGen:CA7724584CN169374 not specified;
NM_002693.3(POLG):c.2121C>T (p.Asn707=)5428POLGLikely benign-1RCV003100286; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986708289867082-
NM_002693.3(POLG):c.2118G>A (p.Glu706=)5428POLGLikely benign748699275RCV000758514|RCV001720101; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898670858986708515:g.89867085C>TClinGen:CA7724586CN169374 not specified;
NM_002693.3(POLG):c.2115G>A (p.Met705Ile)5428POLGUncertain significance1302161574RCV001211619; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898670888986708815:g.89867088C>T-
NM_002693.3(POLG):c.2113A>G (p.Met705Val)5428POLGUncertain significance2152063192RCV001962830; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898670908986709089867090-
NM_002693.3(POLG):c.2111A>C (p.Lys704Thr)5428POLGUncertain significance1049107490RCV000712790|RCV000758296; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986709289867092NC_000015.9:g.89867092T>G-
NM_002693.3(POLG):c.2109C>A (p.Ala703=)5428POLGBenign/Likely benign2307429RCV000118012|RCV000460792|RCV001121412|RCV002313914|RCV002483198; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MeSH:D030342,MedGen:C0950123|6 conditions15898670948986709415:g.89867094G>TClinGen:CA288982CN169374 not specified;
NM_002693.3(POLG):c.2109C>T (p.Ala703=)5428POLGConflicting interpretations of pathogenicity2307429RCV000127519|RCV000869076|RCV001119423|RCV001289153|RCV002415617; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MedGen:C3661900|MeSH:D030342,MedGen:C0950123158986709489867094NC_000015.9:g.89867094G>AClinGen:CA292828CN169374 not specified;
NM_002693.3(POLG):c.2103T>C (p.Ala701=)5428POLGLikely benign2152063194RCV002134336; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898671008986710089867100-
NM_002693.3(POLG):c.2101G>A (p.Ala701Thr)5428POLGUncertain significance747214857RCV000188561|RCV002514033; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898671028986710215:g.89867102C>TClinGen:CA316666CN169374 not specified;
NM_002693.3(POLG):c.2100G>A (p.Glu700=)5428POLGLikely benign771321898RCV000840095|RCV001433621; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898671038986710315:g.89867103C>T-
NM_002693.3(POLG):c.2098G>C (p.Glu700Gln)5428POLGUncertain significance-1RCV002720387; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986710589867105NC_000015.9:g.89867105C>G-
NM_002693.3(POLG):c.2097G>A (p.Val699=)5428POLGLikely benign2152063210RCV002102407; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898671068986710689867106-
NM_002693.3(POLG):c.2094A>C (p.Glu698Asp)5428POLGUncertain significance2152063213RCV001919959|RCV002478294; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898671098986710989867109-
NM_002693.3(POLG):c.2091A>G (p.Leu697=)5428POLGLikely benign-1RCV003091787; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986711289867112-
NM_002693.3(POLG):c.2089T>A (p.Leu697Ile)5428POLGUncertain significance-1RCV002846277; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986711489867114NC_000015.9:g.89867114A>T-
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu)5428POLGUncertain significance776848222RCV000528399|RCV000732287|RCV000763989|RCV001847828; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|6 conditions|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685158986711889867118NC_000015.9:g.89867118A>CClinGen:CA316664CN169374 not specified;
NM_002693.3(POLG):c.2084A>G (p.Asp695Gly)5428POLGConflicting interpretations of pathogenicity-1RCV002770374|RCV002800068; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123158986711989867119NC_000015.9:g.89867119T>C-
NM_002693.3(POLG):c.2080C>T (p.Leu694=)5428POLGLikely benign369609849RCV001432988; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898671238986712389867123-
NM_002693.3(POLG):c.2074GAA[1] (p.Glu693del)5428POLGUncertain significance760784347RCV000758447|RCV002477745; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898671248986712615:g.89867124_89867126del-
NM_002693.3(POLG):c.2073A>C (p.Val691=)5428POLGUncertain significance-1RCV002599150; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986713089867130-
NM_002693.3(POLG):c.2071G>A (p.Val691Ile)5428POLGUncertain significance2152063222RCV001880937; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898671328986713289867132-
NM_002693.3(POLG):c.2071-4C>T5428POLGLikely benign1567188491RCV000758510; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986713689867136NC_000015.9:g.89867136G>A-
NM_002693.3(POLG):c.2071-14T>G5428POLGConflicting interpretations of pathogenicity150088708RCV000127517|RCV000373859|RCV000758509; NMedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986714689867146NC_000015.9:g.89867146A>CClinGen:CA292827CN169374 not specified;
NM_002693.3(POLG):c.2071-15C>T5428POLGLikely benign1567188502RCV002088440; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898671478986714789867147-
NM_002693.3(POLG):c.2071-16C>T5428POLGLikely benign1426437060RCV002119451; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898671488986714889867148-
NM_002693.3(POLG):c.2071-19G>A5428POLGUncertain significance1042766729RCV002017605; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898671518986715189867151-
NM_002693.3(POLG):c.2071-19G>C5428POLGLikely benign-1RCV003093528; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986715189867151NC_000015.9:g.89867151C>G-
NM_002693.3(POLG):c.2071-22T>C5428POLGBenign2072267RCV000758397|RCV001595039|RCV001789363|RCV001789362|RCV001789364|RCV001789361; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MON158986715489867154NC_000015.9:g.89867154A>G-
NM_002693.3(POLG):c.2071-43C>T5428POLGLikely benign753372873RCV000758511; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986717589867175NC_000015.9:g.89867175G>A-
NM_002693.3(POLG):c.2071-48G>T5428POLGLikely benign1293230481RCV000758512; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986718089867180NC_000015.9:g.89867180C>A-
NM_002693.3(POLG):c.2070+27T>C5428POLGLikely benign1259690556RCV000758508; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986731189867311NC_000015.9:g.89867311A>G-
NM_002693.3(POLG):c.2070+19C>T5428POLGLikely benign-1RCV002638914; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986731989867319NC_000015.9:g.89867319G>A-
NM_002693.3(POLG):c.2070+14C>G5428POLGLikely benign1057520351RCV000441281|RCV002521533; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898673248986732415:g.89867324G>CClinGen:CA16607906CN169374 not specified;
NM_002693.3(POLG):c.2070+13T>G5428POLGLikely benign778253752RCV002142434; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898673258986732589867325-
NM_002693.3(POLG):c.2070+12C>T5428POLGLikely benign-1RCV002921986; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986732689867326NC_000015.9:g.89867326G>A-
NM_002693.3(POLG):c.2070+11G>A5428POLGLikely benign1030112179RCV002186667; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898673278986732789867327-
NM_002693.3(POLG):c.2069C>T (p.Thr690Met)5428POLGUncertain significance201677865RCV000703278|RCV000763990|RCV001552406|RCV002316004; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MedGen:C3661900|MeSH:D030342,MedGen:C095012315898673398986733915:g.89867339G>A-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2062T>C (p.Trp688Arg)5428POLGUncertain significance2055437637RCV001984450; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898673468986734689867346-
NM_002693.3(POLG):c.2054G>A (p.Ser685Asn)5428POLGUncertain significance775662032RCV000633546; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898673548986735415:g.89867354C>TClinGen:CA7724609C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.2052T>C (p.Asn684=)5428POLGUncertain significance919483524RCV001947293; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898673568986735689867356-
NM_002693.3(POLG):c.2051A>G (p.Asn684Ser)5428POLGConflicting interpretations of pathogenicity202244328RCV000820821|RCV001705036|RCV002314740; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123158986735789867357NC_000015.9:g.89867357T>CClinGen:CA316660CN169374 not specified;
NM_002693.3(POLG):c.2050A>C (p.Asn684His)5428POLGUncertain significance772035848RCV001351721; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898673588986735889867358-
NM_002693.3(POLG):c.2047G>C (p.Asp683His)5428POLGUncertain significance2055438033RCV001300531; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898673618986736189867361-
NM_002693.3(POLG):c.2047G>A (p.Asp683Asn)5428POLGUncertain significance-1RCV002295219; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898673618986736189867361-
NM_002693.3(POLG):c.2045C>G (p.Thr682Ser)5428POLGUncertain significance1328436909RCV000758446; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986736389867363NC_000015.9:g.89867363G>C-
NM_002693.3(POLG):c.2040G>A (p.Leu680=)5428POLGConflicting interpretations of pathogenicity367740265RCV001121413|RCV001410772|RCV001638040; NMedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898673688986736815:g.89867368C>T-
NM_002693.3(POLG):c.2038C>T (p.Leu680=)5428POLGLikely benign373066911RCV000758367|RCV001697460; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898673708986737015:g.89867370G>AClinGen:CA7724613CN169374 not specified;
NM_002693.3(POLG):c.2034G>A (p.Glu678=)5428POLGLikely benign-1RCV002857942; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986737489867374-
NM_002693.3(POLG):c.2033A>G (p.Glu678Gly)5428POLGUncertain significance1469478675RCV001902331; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898673758986737589867375-
NM_002693.3(POLG):c.2031G>A (p.Glu677=)5428POLGLikely benign753362163RCV001437365|RCV003405664; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898673778986737789867377-
NM_002693.3(POLG):c.2028G>A (p.Ala676=)5428POLGConflicting interpretations of pathogenicity373550219RCV000127516|RCV000457002|RCV000263177|RCV000710184|RCV001847749|RCV002415616; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123158986738089867380NC_000015.9:g.89867380C>TClinGen:CA292825CN169374 not specified;
NM_002693.3(POLG):c.2027C>T (p.Ala676Val)5428POLGConflicting interpretations of pathogenicity376306906RCV000552401|RCV000733276|RCV000763992|RCV002420318; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|6 conditions|MeSH:D030342,MedGen:C095012315898673818986738115:g.89867381G>AClinGen:CA7724615CN169374 not specified;
NM_002693.3(POLG):c.2026G>A (p.Ala676Thr)5428POLGUncertain significance752293938RCV000731955|RCV000810598; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986738289867382NC_000015.9:g.89867382C>TClinGen:CA316658CN169374 not specified;
NM_002693.3(POLG):c.2022C>T (p.Gly674=)5428POLGLikely benign778484334RCV001327879; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898673868986738689867386-
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)5428POLGConflicting interpretations of pathogenicity200257554RCV000188510|RCV000633561|RCV000768054|RCV001121414|RCV001721213|RCV002317140; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MON158986738789867387NC_000015.9:g.89867387C>TClinGen:CA316585CN169374 not specified;
NM_002693.3(POLG):c.2020G>A (p.Gly674Ser)5428POLGUncertain significance538978071RCV000758445|RCV001766592; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158986738889867388NC_000015.9:g.89867388C>T-
NM_002693.3(POLG):c.2019C>T (p.Ala673=)5428POLGConflicting interpretations of pathogenicity557179508RCV000311062|RCV000758366; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898673898986738915:g.89867389G>AClinGen:CA7724619CN169374 not specified;
NM_002693.3(POLG):c.2014G>A (p.Glu672Lys)5428POLGUncertain significance779964885RCV001905065; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898673948986739489867394-
NM_002693.3(POLG):c.2008C>G (p.Pro670Ala)5428POLGUncertain significance-1RCV002625677; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986740089867400NC_000015.9:g.89867400G>C-
NM_002693.3(POLG):c.2001G>A (p.Gln667=)5428POLGLikely benign-1RCV002599789; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986740789867407-
NM_002693.3(POLG):c.1997A>T (p.Gln666Leu)5428POLGUncertain significance62640029RCV000188555|RCV001233916; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986741189867411NC_000015.9:g.89867411T>AClinGen:CA316654CN169374 not specified;
NM_002693.3(POLG):c.1995G>A (p.Lys665=)5428POLGLikely benign1411128697RCV002153944; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898674138986741389867413-
NM_002693.3(POLG):c.1991G>A (p.Gly664Glu)5428POLGUncertain significance773073959RCV000597218|RCV000706577|RCV002315887; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898674178986741715:g.89867417C>TClinGen:CA7724625CN169374 not specified;
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys)5428POLGBenign2307450RCV000020474|RCV000080022|RCV000224640|RCV000233567|RCV000320624|RCV001847610|RCV002311517; NMONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedG15898674248986742415:g.89867424C>TClinGen:CA285511,UniProtKB:P54098#VAR_014907C0751651 Mitochondrial diseases;
NM_002693.3(POLG):c.1983C>T (p.Leu661=)5428POLGConflicting interpretations of pathogenicity948431638RCV000593316|RCV001445211; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898674258986742515:g.89867425G>AClinGen:CA274550645CN169374 not specified;
NM_002693.3(POLG):c.1981C>G (p.Leu661Val)5428POLGUncertain significance2152063439RCV001976202; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898674278986742789867427-
NM_002693.3(POLG):c.1978T>G (p.Cys660Gly)5428POLGUncertain significance-1RCV002295785; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898674308986743089867430-
NM_002693.3(POLG):c.1977C>T (p.His659=)5428POLGConflicting interpretations of pathogenicity62640030RCV000730709|RCV001455893; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986743189867431NC_000015.9:g.89867431G>A-
NM_002693.3(POLG):c.1976A>C (p.His659Pro)5428POLGUncertain significance1325564562RCV001300585|RCV002473258; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898674328986743289867432-
NM_002693.3(POLG):c.1974G>C (p.Lys658Asn)5428POLGUncertain significance1229982179RCV001896672; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898674348986743489867434-
NM_002693.3(POLG):c.1968C>T (p.Tyr656=)5428POLGLikely benign765009891RCV001468895; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898674408986744015:g.89867440G>A-
NM_002693.3(POLG):c.1966T>A (p.Tyr656Asn)5428POLGUncertain significance2152063453RCV001365223; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898674428986744289867442-
NM_002693.3(POLG):c.1965G>A (p.Leu655=)5428POLGLikely benign543910258RCV000601182|RCV000633562; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898674438986744315:g.89867443C>TClinGen:CA7724630CN169374 not specified;
NM_002693.3(POLG):c.1962C>T (p.Ser654=)5428POLGLikely benign1555453192RCV000527541; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898674468986744615:g.89867446G>AClinGen:CA492289417C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1958A>T (p.Glu653Val)5428POLGUncertain significance752073900RCV000811158|RCV001766695; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898674508986745015:g.89867450T>A-
NM_002693.3(POLG):c.1956C>T (p.Ile652=)5428POLGConflicting interpretations of pathogenicity757860628RCV000174067|RCV000724790|RCV001413886; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898674528986745215:g.89867452G>AClinGen:CA239534CN169374 not specified;
NM_002693.3(POLG):c.1954A>G (p.Ile652Val)5428POLGUncertain significance767751301RCV001368959; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898674548986745489867454-
NM_002693.3(POLG):c.1950A>G (p.Arg650=)5428POLGUncertain significance-1RCV002657757; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986745889867458-
NM_002693.3(POLG):c.1950-3C>T5428POLGUncertain significance750837914RCV001317705; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898674618986746189867461-
NM_002693.3(POLG):c.1950-9T>C5428POLGBenign/Likely benign780378329RCV000188509|RCV000758556; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986746789867467NC_000015.9:g.89867467A>GClinGen:CA316584CN169374 not specified;
NM_002693.3(POLG):c.1950-10C>A5428POLGUncertain significance749522324RCV001339811|RCV001664840; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898674688986746889867468-
NM_002693.3(POLG):c.1950-12T>C5428POLGLikely benign1044074988RCV002117572; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898674708986747089867470-
NM_002693.3(POLG):c.1950-13G>C5428POLGLikely benign577747971RCV000431891|RCV002062701; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898674718986747115:g.89867471C>GClinGen:CA7724638CN169374 not specified;
NM_002693.3(POLG):c.1950-16A>C5428POLGLikely benign1310096810RCV000758363; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986747489867474NC_000015.9:g.89867474T>G-
NM_002693.3(POLG):c.1950-28GCT[3]5428POLGLikely benign-1RCV002593963; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986747589867477NC_000015.9:g.89867475AGC[3]-
NM_002693.3(POLG):c.1950-21C>T5428POLGBenign2307452RCV000758396; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986747989867479NC_000015.9:g.89867479G>A-
NM_002693.3(POLG):c.1950-32_1950-30del5428POLGLikely benign1567188748RCV000758364; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986748889867490NC_000015.9:g.89867489_89867491del-
NM_002693.3(POLG):c.1950-43A>G5428POLGBenign74596434RCV000758365; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986750189867501NC_000015.9:g.89867501T>C-
NM_002693.3(POLG):c.1949+44C>A5428POLGLikely benign762378430RCV000758362; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986863789868637NC_000015.9:g.89868637G>T-
NM_002693.3(POLG):c.1949+20G>C5428POLGBenign/Likely benign371964664RCV000127567|RCV000758361; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986866189868661NC_000015.9:g.89868661C>GClinGen:CA292884CN169374 not specified;
NC_000015.9:g.(?_89868661)_(89873527_?)dup5428POLGUncertain significance-1RCV000633574; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986866189873527-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1949+19G>A5428POLGLikely benign1279489966RCV002131299; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898686628986866289868662-
NM_002693.3(POLG):c.1949+17G>A5428POLGLikely benign-1RCV003029416; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986866489868664NC_000015.9:g.89868664C>T-
NM_002693.3(POLG):c.1949+16A>G5428POLGLikely benign766654932RCV002135394; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898686658986866589868665-
NM_002693.3(POLG):c.1949+14C>T5428POLGLikely benign754016118RCV000758395; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986866789868667NC_000015.9:g.89868667G>A-
NM_002693.3(POLG):c.1949+13C>G5428POLGLikely benign-1RCV002670885; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986866889868668NC_000015.9:g.89868668G>C-
NM_002693.3(POLG):c.1949+12G>C5428POLGLikely benign2055501824RCV002167208; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898686698986866989868669-
NM_002693.3(POLG):c.1949+12G>A5428POLGLikely benign-1RCV002842949; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986866989868669NC_000015.9:g.89868669C>T-
NM_002693.3(POLG):c.1949+3A>G5428POLGConflicting interpretations of pathogenicity1057523710RCV000698969|RCV001698296; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898686788986867815:g.89868678T>CClinGen:CA16607067CN169374 not specified;
NM_002693.3(POLG):c.1947C>T (p.Tyr649=)5428POLGLikely benign1465650547RCV002110958; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898686838986868389868683-
NM_002693.3(POLG):c.1946A>T (p.Tyr649Phe)5428POLGUncertain significance972392438RCV001226951; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898686848986868415:g.89868684T>A-
NM_002693.3(POLG):c.1937T>G (p.Val646Gly)5428POLGUncertain significance-1RCV003059335; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986869389868693NC_000015.9:g.89868693A>C-
NM_002693.3(POLG):c.1936G>T (p.Val646Phe)5428POLGUncertain significance757131755RCV001339843|RCV002486364; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898686948986869489868694-
NM_002693.3(POLG):c.1933G>T (p.Val645Leu)5428POLGUncertain significance-1RCV003074607; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986869789868697NC_000015.9:g.89868697C>A-
NM_002693.3(POLG):c.1930G>A (p.Gly644Arg)5428POLGUncertain significance1156534099RCV002009692; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898687008986870089868700-
NM_002693.3(POLG):c.1930G>C (p.Gly644Arg)5428POLGUncertain significance-1RCV002727072; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986870089868700NC_000015.9:g.89868700C>G-
NM_002693.3(POLG):c.1929T>C (p.Ala643=)5428POLGConflicting interpretations of pathogenicity745800212RCV000732926|RCV001421051; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986870189868701NC_000015.9:g.89868701A>G-
NM_002693.3(POLG):c.1926A>T (p.Ser642=)5428POLGLikely benign2055502648RCV002182692|RCV002407353; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898687048986870489868704-
NM_002693.3(POLG):c.1918C>T (p.Leu640=)5428POLGLikely benign2152065811RCV002156419; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898687128986871289868712-
NM_002693.3(POLG):c.1912A>G (p.Thr638Ala)5428POLGUncertain significance1567190199RCV000728790|RCV002535095; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986871889868718NC_000015.9:g.89868718T>C-
NM_002693.3(POLG):c.1910G>A (p.Gly637Asp)5428POLGUncertain significance748925763RCV001121415|RCV002252319|RCV003130159|RCV002556613; NMedGen:C4763519||MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898687208986872015:g.89868720C>T-
NM_002693.3(POLG):c.1909G>T (p.Gly637Cys)5428POLGUncertain significance2152065820RCV001943386; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898687218986872189868721-
NM_002693.3(POLG):c.1909G>C (p.Gly637Arg)5428POLGUncertain significance-1RCV002295074; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898687218986872189868721-
NM_002693.3(POLG):c.1908A>G (p.Thr636=)5428POLGLikely benign1596356880RCV001465850; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898687228986872215:g.89868722T>C-
NM_002693.3(POLG):c.1907C>G (p.Thr636Arg)5428POLGUncertain significance917815816RCV001899748|RCV002490000; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898687238986872389868723-
NM_002693.3(POLG):c.1905G>A (p.Pro635=)5428POLGConflicting interpretations of pathogenicity550592814RCV000377537|RCV000429004|RCV000732052|RCV001482698; NMedGen:C4763519|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986872589868725NC_000015.9:g.89868725C>TClinGen:CA7724665CN169374 not specified;
NM_002693.3(POLG):c.1905G>T (p.Pro635=)5428POLGConflicting interpretations of pathogenicity550592814RCV000430127|RCV000712789|RCV000758360; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898687258986872515:g.89868725C>AClinGen:CA10602209CN169374 not specified;
NM_002693.3(POLG):c.1904C>T (p.Pro635Leu)5428POLGUncertain significance773994204RCV000758443|RCV001705035; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158986872689868726NC_000015.9:g.89868726G>AClinGen:CA316652CN169374 not specified;
NM_002693.3(POLG):c.1899G>C (p.Lys633Asn)5428POLGUncertain significance-1RCV003013669; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986873189868731NC_000015.9:g.89868731C>G-
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr)5428POLGConflicting interpretations of pathogenicity568913937RCV000188670|RCV000551532|RCV000732615|RCV001116517; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MedGen:C4763519158986873289868732NC_000015.9:g.89868732T>GClinGen:CA316852CN169374 not specified;
NM_002693.3(POLG):c.1894G>A (p.Ala632Thr)5428POLGUncertain significance908875872RCV000733916|RCV000758442; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986873689868736NC_000015.9:g.89868736C>T-
NM_002693.3(POLG):c.1890C>T (p.Asn630=)5428POLGBenign/Likely benign148658588RCV000127566|RCV000534504|RCV000858666|RCV002408635; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123158986874089868740NC_000015.9:g.89868740G>AClinGen:CA292882CN169374 not specified;
NM_002693.3(POLG):c.1887C>T (p.Asp629=)5428POLGConflicting interpretations of pathogenicity886051524RCV000344383|RCV000602628|RCV000758359; NMedGen:C4763519|MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986874389868743NC_000015.9:g.89868743G>AClinGen:CA10602207CN169374 not specified;
NM_002693.3(POLG):c.1887C>G (p.Asp629Glu)5428POLGUncertain significance886051524RCV000633542; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898687438986874315:g.89868743G>CClinGen:CA393759147C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1886A>C (p.Asp629Ala)5428POLGUncertain significance1039182766RCV000487373|RCV001116518|RCV001856881; NMedGen:C3661900|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898687448986874415:g.89868744T>GClinGen:CA16620022CN169374 not specified;
NM_002693.3(POLG):c.1885G>C (p.Asp629His)5428POLGUncertain significance1555453424RCV000526608; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986874589868745NC_000015.9:g.89868745C>GClinGen:CA393759155C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1883G>A (p.Arg628Gln)5428POLGConflicting interpretations of pathogenicity201871736RCV000188553|RCV001171906|RCV001319474; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986874789868747NC_000015.9:g.89868747C>TClinGen:CA316650CN169374 not specified;
NM_002693.3(POLG):c.1882C>T (p.Arg628Trp)5428POLGUncertain significance754245040RCV000550612|RCV000763993; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions158986874889868748NC_000015.9:g.89868748G>AClinGen:CA7724668C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1874C>T (p.Pro625Leu)5428POLGConflicting interpretations of pathogenicity1064794214RCV000478890|RCV000758441; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898687568986875615:g.89868756G>AClinGen:CA10602206CN517202 not provided;
NM_002693.3(POLG):c.1872G>A (p.Val624=)5428POLGConflicting interpretations of pathogenicity765506021RCV000545151|RCV000609746|RCV001848932; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685158986875889868758NC_000015.9:g.89868758C>TClinGen:CA492289266CN169374 not specified;
NM_002693.3(POLG):c.1872G>T (p.Val624=)5428POLGLikely benign-1RCV002617677; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986875889868758-
NM_002693.3(POLG):c.1870G>A (p.Val624Met)5428POLGUncertain significance1362000189RCV001932423|RCV003303245; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898687608986876089868760-
NM_002693.3(POLG):c.1869G>A (p.Leu623=)5428POLGLikely benign752933920RCV001945718; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898687618986876189868761-
NM_002693.3(POLG):c.1868T>G (p.Leu623Trp)5428POLGConflicting interpretations of pathogenicity758438414RCV000188668|RCV001336494; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986876289868762NC_000015.9:g.89868762A>CClinGen:CA316848CN517202 not provided;
NM_002693.3(POLG):c.1867T>C (p.Leu623=)5428POLGLikely benign548491099RCV000615152|RCV000951573; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898687638986876315:g.89868763A>GClinGen:CA7724673CN169374 not specified;
NM_002693.3(POLG):c.1865A>C (p.Tyr622Ser)5428POLGUncertain significance892010680RCV001996897; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898687658986876589868765-
NM_002693.3(POLG):c.1851T>C (p.Arg617=)5428POLGLikely benign2152065878RCV002218171; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898687798986877989868779-
NM_002693.3(POLG):c.1850G>A (p.Arg617His)5428POLGConflicting interpretations of pathogenicity779961986RCV000725018|RCV000758555|RCV002519104; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898687808986878015:g.89868780C>TClinGen:CA7724675CN169374 not specified;
NM_002693.3(POLG):c.1850G>C (p.Arg617Pro)5428POLGUncertain significance-1RCV003116891; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986878089868780NC_000015.9:g.89868780C>G-
NM_002693.3(POLG):c.1849C>T (p.Arg617Cys)5428POLGUncertain significance144374017RCV000758409; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986878189868781NC_000015.9:g.89868781G>A-
NM_002693.3(POLG):c.1842C>T (p.Tyr614=)5428POLGConflicting interpretations of pathogenicity62640033RCV000729059|RCV001502376; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986878889868788NC_000015.9:g.89868788G>A-
NM_002693.3(POLG):c.1840T>C (p.Tyr614His)5428POLGUncertain significance-1RCV002643750|RCV003329462; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158986879089868790NC_000015.9:g.89868790A>G-
NM_002693.3(POLG):c.1838A>G (p.His613Arg)5428POLGUncertain significance-1RCV002627799; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986879289868792NC_000015.9:g.89868792T>C-
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)5428POLGConflicting interpretations of pathogenicity147407423RCV000173762|RCV000538134|RCV000710183|RCV000768055|RCV001263354|RCV002313026; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,Orp15898687938986879315:g.89868793G>AClinGen:CA302712CN169374 not specified;
NM_002693.3(POLG):c.1837C>G (p.His613Asp)5428POLGUncertain significance-1RCV002917155; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986879389868793NC_000015.9:g.89868793G>C-
NM_002693.3(POLG):c.1836G>A (p.Leu612=)5428POLGLikely benign-1RCV002856662; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986879489868794-
NM_002693.3(POLG):c.1831C>T (p.Pro611Ser)5428POLGUncertain significance-1RCV002814983; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986879989868799NC_000015.9:g.89868799G>A-
NM_002693.3(POLG):c.1830C>T (p.Phe610=)5428POLGBenign/Likely benign771566653RCV000633573|RCV001644716; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898688008986880015:g.89868800G>AClinGen:CA7724679C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1814_1815delinsGC (p.Leu605Arg)5428POLGUncertain significance2152065907RCV001909441; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898688158986881689868815-
NM_002693.3(POLG):c.1813C>G (p.Leu605Val)5428POLGUncertain significance-1RCV003034183; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986881789868817NC_000015.9:g.89868817G>C-
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)5428POLGConflicting interpretations of pathogenicity367610201RCV000188667|RCV001348402|RCV001814096|RCV001847837|RCV003226244; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphan158986882289868822NC_000015.9:g.89868822A>GClinGen:CA316846CN517202 not provided;
NM_002693.3(POLG):c.1806C>T (p.Leu602=)5428POLGLikely benign-1RCV002881288; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986882489868824-
NM_002693.3(POLG):c.1798C>T (p.Pro600Ser)5428POLGUncertain significance759840237RCV001209342|RCV003132272; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898688328986883215:g.89868832G>A-
NM_002693.3(POLG):c.1797A>T (p.Thr599=)5428POLGLikely benign775651351RCV000758357; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986883389868833NC_000015.9:g.89868833T>A-
NM_002693.3(POLG):c.1797A>C (p.Thr599=)5428POLGLikely benign-1RCV002770479; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986883389868833-
NM_002693.3(POLG):c.1795A>C (p.Thr599Pro)5428POLGUncertain significance1064796458RCV000486915|RCV000633550; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898688358986883515:g.89868835T>GClinGen:CA16620023CN169374 not specified;
NM_002693.3(POLG):c.1794C>G (p.Val598=)5428POLGLikely benign-1RCV002604296; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986883689868836-
NM_002693.3(POLG):c.1790G>A (p.Arg597Gln)5428POLGConflicting interpretations of pathogenicity1001570418RCV000699074|RCV001546774|RCV003230576; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MedGen:CN169374158986884089868840NC_000015.9:g.89868840C>T-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1781T>C (p.Leu594Pro)5428POLGUncertain significance2055505934RCV001240446; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898688498986884915:g.89868849A>G-
NM_002693.3(POLG):c.1780C>T (p.Leu594=)5428POLGConflicting interpretations of pathogenicity778172428RCV001289152|RCV002070095; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898688508986885089868850-
NM_002693.3(POLG):c.1779C>T (p.Ser593=)5428POLGLikely benign1199472537RCV002194714; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898688518986885189868851-
NM_002693.3(POLG):c.1774C>T (p.Leu592Phe)5428POLGUncertain significance-1RCV003007198; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986885689868856NC_000015.9:g.89868856G>A-
NM_002693.3(POLG):c.1772T>G (p.Leu591Arg)5428POLGUncertain significance756072588RCV001346080|RCV001815542; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898688588986885889868858-
NM_002693.3(POLG):c.1764C>T (p.Gly588=)5428POLGLikely benign753839110RCV001487915|RCV001720076; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898688668986886615:g.89868866G>AClinGen:CA7724691CN169374 not specified;
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp)5428POLGConflicting interpretations of pathogenicity371334941RCV000413337|RCV000557537|RCV001805034; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN16937415898688678986886715:g.89868867C>TClinGen:CA10602201CN517202 not provided;
NM_002693.3(POLG):c.1761G>A (p.Pro587=)5428POLGConflicting interpretations of pathogenicity374805003RCV000500619|RCV000758356|RCV003133285; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158986886989868869NC_000015.9:g.89868869C>TClinGen:CA7724692CN169374 not specified;
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)5428POLGConflicting interpretations of pathogenicity113994096RCV000014456|RCV000020473|RCV000186576|RCV000193529|RCV000408293|RCV000415307|RCV000427845|RCV000508752|RCV001004602|RCV001610290|RCV001642226|RCV001813986|RCV001847603|RCV001813743|RCV002227034|RCV002313709|RCV002319424|RCV003458332; NMONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041, Orphanet:298|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orp15898688708986887015:g.89868870G>AClinVar:1698500,ClinGen:CA123146,UniProtKB:P54098#VAR_023671,OMIM:174763.0011C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
NM_002693.3(POLG):c.1758C>T (p.Thr586=)5428POLGLikely benign-1RCV002574103; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986887289868872-
NM_002693.3(POLG):c.1757C>T (p.Thr586Ile)5428POLGUncertain significance-1RCV002401617|RCV003097215; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898688738986887389868873-
NM_002693.3(POLG):c.1756A>G (p.Thr586Ala)5428POLGUncertain significance1596357095RCV001879138; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898688748986887489868874-
NM_002693.3(POLG):c.1753T>A (p.Trp585Arg)5428POLGUncertain significance2152065960RCV001875110; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898688778986887789868877-
NM_002693.3(POLG):c.1752A>C (p.Ala584=)5428POLGLikely benign150929445RCV000426564|RCV000556608|RCV002411319; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898688788986887815:g.89868878T>GClinGen:CA7724693CN169374 not specified;
NM_002693.3(POLG):c.1752A>G (p.Ala584=)5428POLGLikely benign150929445RCV000537197; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986887889868878NC_000015.9:g.89868878T>CClinGen:CA492289511C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1750G>T (p.Ala584Ser)5428POLGUncertain significance-1RCV002297862; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898688808986888089868880-
NM_002693.3(POLG):c.1747C>T (p.Pro583Ser)5428POLGUncertain significance-1RCV003092040; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986888389868883NC_000015.9:g.89868883G>A-
NM_002693.3(POLG):c.1744G>A (p.Asp582Asn)5428POLGUncertain significance746560565RCV000188665|RCV001307628; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986888689868886NC_000015.9:g.89868886C>TClinGen:CA316844CN169374 not specified;
NM_002693.3(POLG):c.1743C>T (p.Asp581=)5428POLGConflicting interpretations of pathogenicity140743000RCV000127565|RCV000382683|RCV000758355|RCV002312592|RCV003398746; NMedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:C3661900158986888789868887NC_000015.9:g.89868887G>AClinGen:CA292880CN169374 not specified;
NM_002693.3(POLG):c.1742A>G (p.Asp581Gly)5428POLGUncertain significance-1RCV002632178; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986888889868888NC_000015.9:g.89868888T>C-
NM_002693.3(POLG):c.1738C>G (p.Leu580Val)5428POLGUncertain significance2152065984RCV001893159; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898688928986889289868892-
NM_002693.3(POLG):c.1736G>A (p.Arg579Gln)5428POLGUncertain significance746406535RCV000733389|RCV000758295|RCV002315444|RCV003323700; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:CN169374158986889489868894NC_000015.9:g.89868894C>T-
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp)5428POLGConflicting interpretations of pathogenicity556925652RCV000544202|RCV001584248; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158986889589868895NC_000015.9:g.89868895G>AClinGen:CA7724698C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1732C>A (p.Pro578Thr)5428POLGUncertain significance775769107RCV002003369; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898688988986889889868898-
NM_002693.3(POLG):c.1728C>A (p.Leu576=)5428POLGLikely benign763204640RCV001448345; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898689028986890215:g.89868902G>T-
NM_002693.3(POLG):c.1728C>G (p.Leu576=)5428POLGLikely benign763204640RCV002163859; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898689028986890289868902-
NM_002693.3(POLG):c.1723A>C (p.Lys575Gln)5428POLGUncertain significance1379482879RCV000531741|RCV000728094; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158986890789868907NC_000015.9:g.89868907T>GClinGen:CA393759496C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln)5428POLGConflicting interpretations of pathogenicity764287987RCV000758294|RCV000791102|RCV001585689|RCV003117542; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN180166|MedGen:C3661900|MedGen:CN169374158986890989868909NC_000015.9:g.89868909C>T-
NM_002693.3(POLG):c.1713-4G>A5428POLGConflicting interpretations of pathogenicity201857960RCV000758293; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986892189868921NC_000015.9:g.89868921C>T-
NM_002693.3(POLG):c.1713-5C>T5428POLGBenign/Likely benign148494026RCV000127564|RCV000758408; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986892289868922NC_000015.9:g.89868922G>AClinGen:CA292879CN169374 not specified;
NM_002693.3(POLG):c.1713-8G>C5428POLGLikely benign369804413RCV001430434; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898689258986892589868925-
NM_002693.3(POLG):c.1713-11C>T5428POLGLikely benign1376554827RCV002097789; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898689288986892889868928-
NM_002693.3(POLG):c.1713-16T>G5428POLGUncertain significance-1RCV003023208; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986893389868933NC_000015.9:g.89868933A>C-
NM_002693.3(POLG):c.1713-18C>T5428POLGLikely benign1298520719RCV000842504|RCV002064403; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898689358986893515:g.89868935G>A-
NM_002693.3(POLG):c.1713-20G>C5428POLGLikely benign2055507868RCV002143791; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898689378986893789868937-
NM_002693.3(POLG):c.1713-31G>A5428POLGBenign3176191RCV000758393; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986894889868948NC_000015.9:g.89868948C>T-
NM_002693.3(POLG):c.1713-32C>T5428POLGBenign3176190RCV000758394|RCV001615049; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158986894989868949NC_000015.9:g.89868949G>A-
NM_002693.3(POLG):c.1712+19C>G5428POLGLikely benign-1RCV002681807; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986982489869824NC_000015.9:g.89869824G>C-
NM_002693.3(POLG):c.1712+18C>T5428POLGLikely benign759511776RCV002200567; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898698258986982589869825-
NM_002693.3(POLG):c.1712+16C>T5428POLGLikely benign-1RCV002917555; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986982789869827NC_000015.9:g.89869827G>A-
NM_002693.3(POLG):c.1712+10G>A5428POLGBenign/Likely benign55962804RCV000127563|RCV000543278|RCV001116519; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519158986983389869833NC_000015.9:g.89869833C>TClinGen:CA292878CN169374 not specified;
NM_002693.3(POLG):c.1712+4A>C5428POLGUncertain significance1555453528RCV000555695; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986983989869839NC_000015.9:g.89869839T>GClinGen:CA658658321C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1712G>C (p.Gly571Ala)5428POLGUncertain significance-1RCV003048851; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986984389869843NC_000015.9:g.89869843C>G-
NM_002693.3(POLG):c.1709C>G (p.Pro570Arg)5428POLGUncertain significance780695124RCV001933204; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898698468986984689869846-
NM_002693.3(POLG):c.1709C>T (p.Pro570Leu)5428POLGUncertain significance780695124RCV001881743|RCV002307782; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898698468986984689869846-
NM_002693.3(POLG):c.1696C>A (p.Leu566Ile)5428POLGUncertain significance559937676RCV001878376|RCV002305628; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898698598986985989869859-
NM_002693.3(POLG):c.1692G>A (p.Gln564=)5428POLGLikely benign149687731RCV002136159; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898698638986986389869863-
NM_002693.3(POLG):c.1688C>T (p.Pro563Leu)5428POLGUncertain significance-1RCV002944128; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986986789869867NC_000015.9:g.89869867G>A-
NM_002693.3(POLG):c.1684C>T (p.Arg562Trp)5428POLGUncertain significance756952607RCV000758407|RCV000992683; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158986987189869871NC_000015.9:g.89869871G>A-
NM_002693.3(POLG):c.1682A>G (p.Lys561Arg)5428POLGUncertain significance1350960257RCV000992682|RCV001858752; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898698738986987315:g.89869873T>C-
NM_002693.3(POLG):c.1680C>A (p.Pro560=)5428POLGLikely benign-1RCV002889747; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986987589869875-
NM_002693.3(POLG):c.1680C>T (p.Pro560=)5428POLGLikely benign-1RCV003046751; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986987589869875-
NM_002693.3(POLG):c.1679C>T (p.Pro560Leu)5428POLGUncertain significance2055522032RCV001894963; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898698768986987689869876-
NM_002693.3(POLG):c.1674C>G (p.Leu558=)5428POLGBenign/Likely benign552085869RCV000188552|RCV000758291; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986988189869881NC_000015.9:g.89869881G>CClinGen:CA316648CN169374 not specified;
NM_002693.3(POLG):c.1674C>T (p.Leu558=)5428POLGLikely benign552085869RCV002202886; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898698818986988189869881-
NM_002693.3(POLG):c.1672C>G (p.Leu558Val)5428POLGUncertain significance1411219168RCV000554779|RCV002527689; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158986988389869883NC_000015.9:g.89869883G>CClinGen:CA393760499C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1671G>C (p.Glu557Asp)5428POLGUncertain significance780365511RCV001925350; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898698848986988489869884-
NM_002693.3(POLG):c.1669G>C (p.Glu557Gln)5428POLGUncertain significance1481695998RCV000692784|RCV000728618|RCV002493181; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|6 conditions158986988689869886NC_000015.9:g.89869886C>G-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1665C>G (p.Thr555=)5428POLGLikely benign1378085314RCV002145753; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898698908986989089869890-
NM_002693.3(POLG):c.1664C>T (p.Thr555Ile)5428POLGUncertain significance749805848RCV001942707; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898698918986989189869891-
NM_002693.3(POLG):c.1663A>T (p.Thr555Ser)5428POLGUncertain significance145496284RCV002010722; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898698928986989289869892-
NM_002693.3(POLG):c.1655T>C (p.Leu552Pro)5428POLGUncertain significance2055522665RCV001236505|RCV002264242; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898699008986990015:g.89869900A>G-
NM_002693.3(POLG):c.1652A>G (p.Lys551Arg)5428POLGUncertain significance1596357794RCV000814126; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898699038986990315:g.89869903T>C-
NM_002693.3(POLG):c.1648C>G (p.Gln550Glu)5428POLGUncertain significance1227630175RCV000594852|RCV000758290; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898699078986990715:g.89869907G>CClinGen:CA10602199CN169374 not specified;
NM_002693.3(POLG):c.1647G>A (p.Leu549=)5428POLGLikely benign-1RCV002626336; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986990889869908-
NM_002693.3(POLG):c.1643G>A (p.Cys548Tyr)5428POLGUncertain significance2152066680RCV001904198; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898699128986991289869912-
NM_002693.3(POLG):c.1640C>A (p.Ala547Asp)5428POLGUncertain significance1567190832RCV000758289|RCV000995416; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158986991589869915NC_000015.9:g.89869915G>T-
NM_002693.3(POLG):c.1639G>A (p.Ala547Thr)5428POLGUncertain significance779353857RCV000729798|RCV001862183; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986991689869916NC_000015.9:g.89869916C>T-
NM_002693.3(POLG):c.1639G>T (p.Ala547Ser)5428POLGUncertain significance779353857RCV000758288; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986991689869916NC_000015.9:g.89869916C>A-
NM_002693.3(POLG):c.1638C>T (p.Arg546=)5428POLGLikely benign772461291RCV000542358|RCV000992681; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898699178986991715:g.89869917G>AClinGen:CA7724739CN169374 not specified;
NM_002693.3(POLG):c.1637G>A (p.Arg546His)5428POLGUncertain significance773418477RCV000597475|RCV000795711; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898699188986991815:g.89869918C>TClinGen:CA7724740CN169374 not specified;
NM_002693.3(POLG):c.1636C>T (p.Arg546Cys)5428POLGBenign2307447RCV000020472|RCV000127562|RCV000473794|RCV001711075|RCV002311516; NMONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C095012315898699198986991915:g.89869919G>AClinGen:CA292876,UniProtKB:P54098#VAR_014906C0751651 Mitochondrial diseases;
NM_002693.3(POLG):c.1636C>G (p.Arg546Gly)5428POLGUncertain significance2307447RCV000731469|RCV001364045; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986991989869919NC_000015.9:g.89869919G>C-
NM_002693.3(POLG):c.1635C>T (p.Ala545=)5428POLGLikely benign-1RCV002876876; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986992089869920-
NM_002693.3(POLG):c.1633G>T (p.Ala545Ser)5428POLGUncertain significance-1RCV003065473; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986992289869922NC_000015.9:g.89869922C>A-
NM_002693.3(POLG):c.1629C>T (p.Val543=)5428POLGConflicting interpretations of pathogenicity56349446RCV000442913|RCV001116520|RCV001410765; NMedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898699268986992615:g.89869926G>AClinGen:CA7724742CN169374 not specified;
NM_002693.3(POLG):c.1627G>A (p.Val543Ile)5428POLGUncertain significance763775923RCV002051966|RCV002397829|RCV001914910; NMedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898699288986992889869928-
NM_002693.3(POLG):c.1626T>C (p.Asp542=)5428POLGConflicting interpretations of pathogenicity376576519RCV000728733|RCV001116521|RCV001476795|RCV002397503; NMedGen:CN517202|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123158986992989869929NC_000015.9:g.89869929A>G-
NM_002693.3(POLG):c.1615_1623del (p.Phe539_Gln541del)5428POLGConflicting interpretations of pathogenicity754586219RCV000662161|RCV000662162|RCV000662163|RCV003237981; NMONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158986993289869940NC_000015.9:g.89869932_89869940del-C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.3(POLG):c.1620A>G (p.Gln540=)5428POLGLikely benign958701683RCV000601178|RCV001412636; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898699358986993515:g.89869935T>CClinGen:CA274555697CN169374 not specified;
NM_002693.3(POLG):c.1618C>G (p.Gln540Glu)5428POLGUncertain significance-1RCV002647943; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986993789869937NC_000015.9:g.89869937G>C-
NM_002693.3(POLG):c.1617T>C (p.Phe539=)5428POLGLikely benign-1RCV003021562; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986993889869938-
NM_002693.3(POLG):c.1603GAG[3] (p.Glu538del)5428POLGUncertain significance1304341853RCV001921754; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898699418986994389869940-
NM_002693.3(POLG):c.1612_1613delinsTT (p.Glu538Leu)5428POLGUncertain significance796052921RCV000188700|RCV001324164|RCV002261003; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158986994289869943NC_000015.9:g.89869942_89869943delinsAAClinGen:CA316904CN169374 not specified;
NM_002693.3(POLG):c.1613A>C (p.Glu538Ala)5428POLGUncertain significance767216577RCV000497705|RCV000525378|RCV002481581|RCV002527134; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MeSH:D030342,MedGen:C095012315898699428986994215:g.89869942T>GClinGen:CA7724748CN169374 not specified;
NM_002693.3(POLG):c.1607A>G (p.Glu536Gly)5428POLGUncertain significance1596357858RCV000812235; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898699488986994815:g.89869948T>C-
NM_002693.3(POLG):c.1603G>A (p.Glu535Lys)5428POLGUncertain significance2055524067RCV001057172; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898699528986995215:g.89869952C>T-
NM_002693.3(POLG):c.1600A>G (p.Ser534Gly)5428POLGUncertain significance201097813RCV001369626; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898699558986995589869955-
NM_002693.3(POLG):c.1599C>G (p.Cys533Trp)5428POLGConflicting interpretations of pathogenicity754246294RCV000188551|RCV001117968|RCV001852488|RCV003133166; NMedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898699568986995615:g.89869956G>CClinGen:CA316646CN169374 not specified;
NM_002693.3(POLG):c.1596C>T (p.Pro532=)5428POLGLikely benign199856571RCV000516203|RCV000864648; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898699598986995915:g.89869959G>AClinGen:CA7724751CN169374 not specified;
NM_002693.3(POLG):c.1591G>A (p.Gly531Ser)5428POLGUncertain significance796052904RCV000188662|RCV001228118|RCV002399701; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123158986996489869964NC_000015.9:g.89869964C>TClinGen:CA316838CN169374 not specified;
NM_002693.3(POLG):c.1591G>T (p.Gly531Cys)5428POLGUncertain significance796052904RCV001876561|RCV002281196; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898699648986996489869964-
NM_002693.3(POLG):c.1590C>T (p.Leu530=)5428POLGLikely benign141422952RCV000541450; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898699658986996515:g.89869965G>AClinGen:CA7724754C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1586-5del5428POLGBenign/Likely benign2307434RCV000180588|RCV000466342|RCV001812160|RCV001847820|RCV002314677|RCV002500523; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123|6 conditions15898699748986997415:g.89869974_89869974delClinGen:CA303074CN169374 not specified;
NM_002693.3(POLG):c.1586-5C>T5428POLGLikely benign747270023RCV000863048|RCV001731676; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898699748986997415:g.89869974G>AClinGen:CA7724757CN169374 not specified;
NM_002693.3(POLG):c.1586-10A>G5428POLGLikely benign1060504038RCV000468752; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986997989869979NC_000015.9:g.89869979T>CClinGen:CA16614535C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1586-11C>A5428POLGLikely benign776821667RCV002213310; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898699808986998089869980-
NM_002693.3(POLG):c.1586-11C>G5428POLGLikely benign776821667RCV002133213; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898699808986998089869980-
NM_002693.3(POLG):c.1586-16T>C5428POLGLikely benign-1RCV002717067; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986998589869985NC_000015.9:g.89869985A>G-
NM_002693.3(POLG):c.1586-20G>A5428POLGLikely benign768707883RCV002108647; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898699898986998989869989-
NM_002693.3(POLG):c.1586-21T>G5428POLGLikely benign908825194RCV000758505; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158986999089869990NC_000015.9:g.89869990A>C-
NM_002693.3(POLG):c.1586-33_1586-31del5428POLGLikely benign1567190938RCV000758506; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987000089870002NC_000015.9:g.89870002_89870004del-
NM_002693.3(POLG):c.1585+22TAGGG[4]5428POLGLikely benign777442304RCV000758504; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987010689870107NC_000015.9:g.89870109CTACC[4]-
NM_002693.3(POLG):c.1585+18G>A5428POLGLikely benign1371422250RCV000758503; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987012589870125NC_000015.9:g.89870125C>T-
NM_002693.3(POLG):c.1585+15T>G5428POLGLikely benign534475232RCV000602030|RCV002529378; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898701288987012815:g.89870128A>CClinGen:CA7724800CN169374 not specified;
NM_002693.3(POLG):c.1585+11T>C5428POLGConflicting interpretations of pathogenicity201566815RCV000127561|RCV000290628|RCV000758502|RCV001529836; NMedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158987013289870132NC_000015.9:g.89870132A>GClinGen:CA292875CN169374 not specified;
NM_002693.3(POLG):c.1585+8G>A5428POLGLikely benign2152066868RCV001469989; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898701358987013589870135-
NM_002693.3(POLG):c.1585+6G>A5428POLGUncertain significance-1RCV003118897; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987013789870137NC_000015.9:g.89870137C>T-
NM_002693.3(POLG):c.1585+5G>A5428POLGUncertain significance-1RCV003080281; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987013889870138NC_000015.9:g.89870138C>T-
NM_002693.3(POLG):c.1581G>A (p.Gln527=)5428POLGLikely benign2055528821RCV002163576; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898701478987014789870147-
NM_002693.3(POLG):c.1579C>G (p.Gln527Glu)5428POLGUncertain significance-1RCV002842828; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987014989870149NC_000015.9:g.89870149G>C-
NM_002693.3(POLG):c.1572C>T (p.Pro524=)5428POLGLikely benign-1RCV003029657; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987015689870156-
NM_002693.3(POLG):c.1570C>G (p.Pro524Ala)5428POLGUncertain significance577476988RCV000763994|RCV000733058|RCV001323681; N6 conditions|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898701588987015815:g.89870158G>CClinGen:CA316899CN169374 not specified;
NM_002693.3(POLG):c.1565G>C (p.Gly522Ala)5428POLGUncertain significance769410234RCV002003291; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898701638987016389870163-
NM_002693.3(POLG):c.1560C>T (p.Ala520=)5428POLGLikely benign1324794442RCV001485277; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898701688987016815:g.89870168G>A-
NM_002693.3(POLG):c.1552G>A (p.Ala518Thr)5428POLGUncertain significance1596358124RCV000795293; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898701768987017615:g.89870176C>T-
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)5428POLGConflicting interpretations of pathogenicity61752783RCV000055881|RCV000118011|RCV000186556|RCV000223970|RCV000229511|RCV000768289|RCV001117969|RCV001352901|RCV001847644|RCV002311532; NMONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MedGen:CN169374|Human Phenotype Ontology:HP:0100595,MONDO:MONDO:0015271,MedGen:C0264162, Orphanet:1320|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MOND15898701788987017815:g.89870178C>AClinGen:CA204012,UniProtKB:P54098#VAR_058879C0264162 Camptocormia;
NM_002693.3(POLG):c.1547_1549del (p.Glu516del)5428POLGUncertain significance781424514RCV001950008; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898701798987018189870178-
NM_002693.3(POLG):c.1549G>T (p.Gly517Trp)5428POLGUncertain significance1015831792RCV002006518; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898701798987017989870179-
NM_002693.3(POLG):c.1548G>A (p.Glu516=)5428POLGLikely benign555939259RCV001469756; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898701808987018089870180-
NM_002693.3(POLG):c.1545C>T (p.Ile515=)5428POLGConflicting interpretations of pathogenicity537156830RCV000727419|RCV001860211; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898701838987018315:g.89870183G>AClinGen:CA7724813CN169374 not specified;
NM_002693.3(POLG):c.1543A>G (p.Ile515Val)5428POLGUncertain significance748919988RCV000490068|RCV001302676; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898701858987018515:g.89870185T>CClinGen:CA274556112CN169374 not specified;
NM_002693.3(POLG):c.1543A>C (p.Ile515Leu)5428POLGUncertain significance748919988RCV001245891; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898701858987018515:g.89870185T>G-
NM_002693.3(POLG):c.1542C>T (p.Pro514=)5428POLGLikely benign1342656519RCV002119527; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898701868987018689870186-
NM_002693.3(POLG):c.1540C>G (p.Pro514Ala)5428POLGUncertain significance756376617RCV000478808|RCV001851263; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898701888987018815:g.89870188G>CClinGen:CA7724814CN169374 not specified;
NM_002693.3(POLG):c.1532G>C (p.Ser511Thr)5428POLGUncertain significance-1RCV002283194|RCV003096353; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898701968987019689870196-
NM_002693.3(POLG):c.1529C>T (p.Ala510Val)5428POLGUncertain significance1252604834RCV001918114; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898701998987019989870199-
NM_002693.3(POLG):c.1527A>G (p.Thr509=)5428POLGLikely benign-1RCV002806764; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987020189870201-
NM_002693.3(POLG):c.1518A>C (p.Glu506Asp)5428POLGUncertain significance-1RCV002745928; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987021089870210NC_000015.9:g.89870210T>G-
NM_002693.3(POLG):c.1515G>A (p.Lys505=)5428POLGBenign/Likely benign796052880RCV000188550|RCV001465114; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898702138987021315:g.89870213C>TClinGen:CA316644CN169374 not specified;
NM_002693.3(POLG):c.1512G>A (p.Lys504=)5428POLGLikely benign1168275019RCV002176227; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898702168987021689870216-
NM_002693.3(POLG):c.1509G>C (p.Val503=)5428POLGLikely benign1018980768RCV001478481; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898702198987021989870219-
NM_002693.3(POLG):c.1501AAG[1] (p.Lys502del)5428POLGUncertain significance-1RCV002590398; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987022289870224NC_000015.9:g.89870222CTT[1]-
NM_002693.3(POLG):c.1501A>G (p.Lys501Glu)5428POLGUncertain significance-1RCV002596191; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987022789870227NC_000015.9:g.89870227T>C-
NM_002693.3(POLG):c.1500T>C (p.Ala500=)5428POLGLikely benign-1RCV002389936|RCV003095254; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987022889870228-
NM_002693.3(POLG):c.1499C>A (p.Ala500Asp)5428POLGUncertain significance780901280RCV000494076|RCV001040847; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898702298987022915:g.89870229G>TClinGen:CA7724821CN169374 not specified;
NM_002693.3(POLG):c.1498G>A (p.Ala500Thr)5428POLGUncertain significance745506700RCV000484827|RCV000476974|RCV001117970; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519158987023089870230NC_000015.9:g.89870230C>TClinGen:CA7724822CN169374 not specified;
NM_002693.3(POLG):c.1494G>A (p.Lys498=)5428POLGLikely benign2152066951RCV002150418; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898702348987023489870234-
NM_002693.3(POLG):c.1493A>C (p.Lys498Thr)5428POLGUncertain significance769637557RCV000188661|RCV000758406|RCV000766611|RCV002517885; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123158987023589870235NC_000015.9:g.89870235T>GClinGen:CA316836CN169374 not specified;
NM_002693.3(POLG):c.1493A>G (p.Lys498Arg)5428POLGUncertain significance769637557RCV001326621; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898702358987023589870235-
NM_002693.3(POLG):c.1491G>C (p.Gln497His)5428POLGUncertain significance121918052RCV000014464|RCV000528996|RCV000676325|RCV002496360|RCV003230363; NMONDO:MONDO:0016809,MedGen:C1843852, Orphanet:254881|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|6 conditions|MedGen:CN16937415898702378987023715:g.89870237C>GClinGen:CA123152,UniProtKB:P54098#VAR_023669,OMIM:174763.0016,ClinVar:157526C0007959 Charcot-Marie-Tooth disease;
NM_002693.3(POLG):c.1486A>G (p.Lys496Glu)5428POLGUncertain significance-1RCV002774894; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987024289870242NC_000015.9:g.89870242T>C-
NM_002693.3(POLG):c.1477C>G (p.Gln493Glu)5428POLGUncertain significance1404711461RCV002027762; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898702518987025189870251-
NM_002693.3(POLG):c.1474C>T (p.Leu492=)5428POLGLikely benign2152066960RCV001415149; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898702548987025489870254-
NM_002693.3(POLG):c.1464G>A (p.Leu488=)5428POLGLikely benign768288418RCV001338246; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898702648987026489870264-
NM_002693.3(POLG):c.1452_1453delinsTT (p.Trp484_Leu485delinsCysPhe)5428POLGUncertain significance-1RCV002837673; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987027589870276NC_000015.9:g.89870275_89870276delinsAA-
NM_002693.3(POLG):c.1452G>C (p.Trp484Cys)5428POLGUncertain significance774879097RCV000758284; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987027689870276NC_000015.9:g.89870276C>G-
NM_002693.3(POLG):c.1449C>T (p.Pro483=)5428POLGLikely benign762247209RCV000600776|RCV001443450; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898702798987027915:g.89870279G>AClinGen:CA7724826CN169374 not specified;
NM_002693.3(POLG):c.1448C>T (p.Pro483Leu)5428POLGUncertain significance767900699RCV002038937; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898702808987028089870280-
NM_002693.3(POLG):c.1446C>T (p.Asp482=)5428POLGLikely benign202053662RCV000438165|RCV001311061|RCV001421258; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898702828987028215:g.89870282G>AClinGen:CA16607174CN169374 not specified;
NM_002693.3(POLG):c.1440AGA[1] (p.Glu481del)5428POLGUncertain significance2152066975RCV001959467; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898702838987028589870282-
NM_002693.3(POLG):c.1443A>C (p.Glu481Asp)5428POLGUncertain significance1325331080RCV001981093|RCV003128792; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898702858987028589870285-
NM_002693.3(POLG):c.1439A>G (p.Lys480Arg)5428POLGUncertain significance760878504RCV001117971|RCV001212252; NMedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898702898987028915:g.89870289T>C-
NM_002693.3(POLG):c.1434-4G>A5428POLGLikely benign-1RCV002588427; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987029889870298NC_000015.9:g.89870298C>T-
NM_002693.3(POLG):c.1434-7del5428POLGUncertain significance1422281434RCV001312880; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898703018987030189870300-
NM_002693.3(POLG):c.1434-15G>A5428POLGUncertain significance-1RCV002820761; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987030989870309NC_000015.9:g.89870309C>T-
NM_002693.3(POLG):c.1434-18dup5428POLGConflicting interpretations of pathogenicity1064795188RCV000482710|RCV002525876; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898703118987031215:g.89870311_89870312insTClinGen:CA16620024CN169374 not specified;
NM_002693.3(POLG):c.1434-17G>A5428POLGLikely benign373716128RCV000615127|RCV002531194; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898703118987031115:g.89870311C>TClinGen:CA7724833CN169374 not specified;
NM_002693.3(POLG):c.1434-20C>G5428POLGLikely benign-1RCV002998906; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987031489870314NC_000015.9:g.89870314G>C-
NM_002693.3(POLG):c.1434-27C>T5428POLGLikely benign139086616RCV000758497; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987032189870321NC_000015.9:g.89870321G>A-
NM_002693.3(POLG):c.1434-32C>G5428POLGLikely benign954111058RCV000758498; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987032689870326NC_000015.9:g.89870326G>C-
NM_002693.3(POLG):c.1434-45C>T5428POLGLikely benign190262367RCV000758499; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987033989870339NC_000015.9:g.89870339G>A-
NM_002693.3(POLG):c.1433+18G>A5428POLGUncertain significance-1RCV002894716; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987038089870380NC_000015.9:g.89870380C>T-
NM_002693.3(POLG):c.1433+17T>C5428POLGLikely benign2152067044RCV002185080; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898703818987038189870381-
NM_002693.3(POLG):c.1433+14G>A5428POLGLikely benign1057522174RCV000442633|RCV002063492; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898703848987038415:g.89870384C>TClinGen:CA16607072CN169374 not specified;
NM_002693.3(POLG):c.1433+11C>A5428POLGLikely benign2055533348RCV002097766; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898703878987038789870387-
NM_002693.3(POLG):c.1433+10C>T5428POLGLikely benign-1RCV002587839; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987038889870388NC_000015.9:g.89870388G>A-
NM_002693.3(POLG):c.1433+5C>T5428POLGUncertain significance924516946RCV001981721|RCV002497832; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898703938987039389870393-
NM_002693.3(POLG):c.1431G>C (p.Glu477Asp)5428POLGUncertain significance1047926345RCV002005340; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898704008987040089870400-
NM_002693.3(POLG):c.1431G>A (p.Glu477=)5428POLGLikely benign1047926345RCV002188990; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898704008987040089870400-
NM_002693.3(POLG):c.1429G>A (p.Glu477Lys)5428POLGUncertain significance1225242680RCV001663441|RCV002538566; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898704028987040289870402-
NM_002693.3(POLG):c.1425A>G (p.Ser475=)5428POLGLikely benign2152067059RCV002087060; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898704068987040689870406-
NM_002693.3(POLG):c.1422C>T (p.Leu474=)5428POLGLikely benign-1RCV002578346; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987040989870409-
NM_002693.3(POLG):c.1413C>T (p.Cys471=)5428POLGLikely benign2152067068RCV002197454; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898704188987041889870418-
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser)5428POLGUncertain significance368614463RCV000188696|RCV000528078|RCV002503745|RCV002514039|RCV003387794; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MeSH:D030342,MedGen:C0950123|MedGen:CN169374158987042889870428NC_000015.9:g.89870428T>CClinGen:CA316897CN169374 not specified;
NM_002693.3(POLG):c.1403A>T (p.Asn468Ile)5428POLGUncertain significance-1RCV002465078; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886158987042889870428NC_000015.9:g.89870428T>A-
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)5428POLGConflicting interpretations of pathogenicity145843073RCV000470781|RCV000678827|RCV000658725|RCV000763995|RCV001004603|RCV001027840|RCV001117972|RCV001263305|RCV001330959|RCV001610504|RCV001847836|RCV002314743|RCV003230444; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0016532,MedGen:C0238111, Orphanet:2382|MedGen:C3661900|6 conditions|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orph15898704298987042915:g.89870429T>CClinGen:CA316834,UniProtKB:P54098#VAR_023668C0238111 Lennox-Gastaut syndrome;
NM_002693.3(POLG):c.1393G>T (p.Asp465Tyr)5428POLGUncertain significance2152067076RCV001995984; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898704388987043889870438-
NM_002693.3(POLG):c.1379_1390del (p.Lys460_Leu463del)5428POLGUncertain significance-1RCV003016232; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987044189870452NC_000015.9:g.89870444_89870455del-
NM_002693.3(POLG):c.1389G>A (p.Leu463=)5428POLGConflicting interpretations of pathogenicity150828914RCV000726849|RCV001088782|RCV002318460; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898704428987044215:g.89870442C>TClinGen:CA7724866CN169374 not specified;
NM_002693.3(POLG):c.1389G>C (p.Leu463Phe)5428POLGUncertain significance150828914RCV000476156; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987044289870442NC_000015.9:g.89870442C>GClinGen:CA7724867C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1386G>A (p.Ser462=)5428POLGConflicting interpretations of pathogenicity62640034RCV000127560|RCV000402563|RCV000725999|RCV000758496|RCV001847758; NMedGen:CN169374|MedGen:C4763519|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685158987044589870445NC_000015.9:g.89870445C>TClinGen:CA292873CN169374 not specified;
NM_002693.3(POLG):c.1385C>T (p.Ser462Leu)5428POLGUncertain significance762878459RCV000188657|RCV000691141; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987044689870446NC_000015.9:g.89870446G>AClinGen:CA316832CN169374 not specified;
NM_002693.3(POLG):c.1378AAG[1] (p.Lys461del)5428POLGUncertain significance-1RCV002716684; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987044889870450NC_000015.9:g.89870449TTC[1]-
NM_002693.3(POLG):c.1371G>C (p.Arg457=)5428POLGLikely benign1567191387RCV000758495; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987046089870460NC_000015.9:g.89870460C>G-
NM_002693.3(POLG):c.1370G>A (p.Arg457Gln)5428POLGUncertain significance372911506RCV000699631|RCV003322812; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898704618987046115:g.89870461C>T-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1369C>T (p.Arg457Trp)5428POLGUncertain significance766242100RCV000188656|RCV000758282|RCV001847835; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:68515898704628987046215:g.89870462G>AClinGen:CA316830CN169374 not specified;
NM_002693.3(POLG):c.1368G>A (p.Gln456=)5428POLGConflicting interpretations of pathogenicity1555453664RCV000595864|RCV001441860; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898704638987046315:g.89870463C>TClinGen:CA492289697CN169374 not specified;
NM_002693.3(POLG):c.1365C>G (p.Leu455=)5428POLGLikely benign754641736RCV002115231; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898704668987046689870466-
NM_002693.3(POLG):c.1356T>C (p.Tyr452=)5428POLGConflicting interpretations of pathogenicity3176179RCV000734331|RCV001089119|RCV001117973; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C476351915898704758987047515:g.89870475A>GClinGen:CA7724873CN169374 not specified;
NM_002693.3(POLG):c.1355A>G (p.Tyr452Cys)5428POLGUncertain significance2152067095RCV001990830; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898704768987047689870476-
NM_002693.3(POLG):c.1350C>T (p.Gly450=)5428POLGLikely benign752398019RCV001732693|RCV002539818; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898704818987048189870481-
NM_002693.3(POLG):c.1349G>T (p.Gly450Val)5428POLGUncertain significance757804090RCV000519409|RCV000558987; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898704828987048215:g.89870482C>AClinGen:CA7724875CN169374 not specified;
NM_002693.3(POLG):c.1341G>A (p.Glu447=)5428POLGLikely benign2152067108RCV002186889; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898704908987049089870490-
NM_002693.3(POLG):c.1339G>A (p.Glu447Lys)5428POLGUncertain significance2055535022RCV001349824; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898704928987049289870492-
NM_002693.3(POLG):c.1336_1337delinsTT (p.Ala446Leu)5428POLGUncertain significance2152067113RCV001908817; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898704948987049589870494-
NM_002693.3(POLG):c.1333C>G (p.Leu445Val)5428POLGUncertain significance-1RCV003042558; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987049889870498NC_000015.9:g.89870498G>C-
NM_002693.3(POLG):c.1327C>T (p.Arg443Cys)5428POLGUncertain significance747485523RCV000758437|RCV001119509; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519158987050489870504NC_000015.9:g.89870504G>A-
NM_002693.3(POLG):c.1324G>A (p.Glu442Lys)5428POLGUncertain significance-1RCV003109460; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987050789870507NC_000015.9:g.89870507C>T-
NM_002693.3(POLG):c.1320C>T (p.Asn440=)5428POLGLikely benign369593231RCV002090395; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898705118987051189870511-
NM_002693.3(POLG):c.1311C>T (p.Val437=)5428POLGConflicting interpretations of pathogenicity62640035RCV000188549|RCV000758494|RCV001119510; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519158987052089870520NC_000015.9:g.89870520G>AClinGen:CA316642CN169374 not specified;
NM_002693.3(POLG):c.1303C>G (p.Leu435Val)5428POLGUncertain significance2152067129RCV002002785; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898705288987052889870528-
NM_002693.3(POLG):c.1300T>C (p.Tyr434His)5428POLGConflicting interpretations of pathogenicity775538075RCV000188654|RCV001852491; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987053189870531NC_000015.9:g.89870531A>GClinGen:CA316826CN517202 not provided;
NM_002693.3(POLG):c.1298C>T (p.Ser433Phe)5428POLGUncertain significance-1RCV002600313; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987053389870533NC_000015.9:g.89870533G>A-
NM_002693.3(POLG):c.1293T>C (p.Gly431=)5428POLGLikely benign768831752RCV002126810; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898705388987053889870538-
NM_002693.3(POLG):c.1292G>T (p.Gly431Val)5428POLGUncertain significance-1RCV003058482; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987053989870539NC_000015.9:g.89870539C>A-
NM_002693.3(POLG):c.1283T>C (p.Leu428Pro)5428POLGConflicting interpretations of pathogenicity774610098RCV001205060; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898705488987054815:g.89870548A>G-
NM_002693.3(POLG):c.1282C>T (p.Leu428=)5428POLGLikely benign-1RCV002937472; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987054989870549-
NM_002693.3(POLG):c.1280T>C (p.Met427Thr)5428POLGUncertain significance1596358489RCV000803736; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898705518987055115:g.89870551A>G-
NM_002693.3(POLG):c.1279A>G (p.Met427Val)5428POLGUncertain significance996158882RCV001884983; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898705528987055289870552-
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser)5428POLGConflicting interpretations of pathogenicity775576189RCV000534104|RCV000763997|RCV001546202; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MedGen:C3661900158987055589870555NC_000015.9:g.89870555C>TClinGen:CA7724884C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1276G>C (p.Gly426Arg)5428POLGUncertain significance775576189RCV001206394; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898705558987055515:g.89870555C>G-
NM_002693.3(POLG):c.1275C>T (p.Ala425=)5428POLGConflicting interpretations of pathogenicity147404477RCV000127559|RCV000558064|RCV000725687|RCV001847757|RCV002371970; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123158987055689870556NC_000015.9:g.89870556G>AClinGen:CA292871CN169374 not specified;
NM_002693.3(POLG):c.1274C>A (p.Ala425Asp)5428POLGUncertain significance-1RCV002948923; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987055789870557NC_000015.9:g.89870557G>T-
NM_002693.3(POLG):c.1270C>G (p.Leu424Val)5428POLGUncertain significance2055536253RCV001303129; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898705618987056189870561-
NM_002693.3(POLG):c.1269T>A (p.Thr423=)5428POLGConflicting interpretations of pathogenicity886044670RCV000282461|RCV002061145; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898705628987056215:g.89870562A>TClinGen:CA10607040CN169374 not specified;
NM_002693.3(POLG):c.1264G>T (p.Val422Leu)5428POLGUncertain significance-1RCV002303793; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898705678987056789870567-
NM_002693.3(POLG):c.1262C>T (p.Pro421Leu)5428POLGUncertain significance752240321RCV000467695; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987056989870569NC_000015.9:g.89870569G>AClinGen:CA7724887C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1252T>C (p.Cys418Arg)5428POLGConflicting interpretations of pathogenicity758112770RCV001208687|RCV002274145; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|Human Phenotype Ontology:HP:0012758,MedGen:C402273815898705798987057915:g.89870579A>G-
NM_002693.3(POLG):c.1251G>A (p.Arg417=)5428POLGConflicting interpretations of pathogenicity1567191509RCV000729608|RCV000758352; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987058089870580NC_000015.9:g.89870580C>T-
NM_002693.3(POLG):c.1251-5C>G5428POLGLikely benign199621975RCV001472533; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898705858987058589870585-
NM_002693.3(POLG):c.1251-9G>T5428POLGLikely benign1201515627RCV002107405; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898705898987058989870589-
NM_002693.3(POLG):c.1251-20T>C5428POLGLikely benign769062935RCV000842669|RCV002064411; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898706008987060015:g.89870600A>G-
NM_002693.3(POLG):c.1251-23del5428POLGLikely benign541579481RCV000758353; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987060389870603NC_000015.9:g.89870603del-
NM_002693.3(POLG):c.1251-38G>C5428POLGLikely benign1567191551RCV000758354; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987061889870618NC_000015.9:g.89870618C>G-
NM_002693.3(POLG):c.1251-43C>T5428POLGBenign/Likely benign2307444RCV000758543|RCV000832514; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158987062389870623NC_000015.9:g.89870623G>A-
NM_002693.3(POLG):c.1250+37G>T5428POLGLikely benign372614123RCV000758351; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987165089871650NC_000015.9:g.89871650C>A-
NM_002693.3(POLG):c.1250+27_1250+28del5428POLGLikely benign776623760RCV000758350; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987165989871660NC_000015.9:g.89871660GA[1]-
NM_002693.3(POLG):c.1250+15A>T5428POLGLikely benign763678853RCV002101255; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898716728987167289871672-
NM_002693.3(POLG):c.1250+12C>T5428POLGLikely benign985160740RCV000758349; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987167589871675NC_000015.9:g.89871675G>A-
NM_002693.3(POLG):c.1250+9G>T5428POLGLikely benign910982233RCV002086621; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898716788987167889871678-
NM_002693.3(POLG):c.1250+8G>A5428POLGLikely benign775109520RCV001501455; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898716798987167915:g.89871679C>T-
NM_002693.3(POLG):c.1250+5G>T5428POLGConflicting interpretations of pathogenicity751221993RCV000471060|RCV000712786; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158987168289871682NC_000015.9:g.89871682C>AClinGen:CA316823CN169374 not specified;
NM_002693.3(POLG):c.1244T>G (p.Leu415Trp)5428POLGUncertain significance376895501RCV000729453|RCV000802691; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987169389871693NC_000015.9:g.89871693A>C-
NM_002693.3(POLG):c.1239CTT[1] (p.Phe414del)5428POLGUncertain significance2055551786RCV001049976; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898716938987169515:g.89871693_89871695del-
NM_002693.3(POLG):c.1243T>C (p.Leu415=)5428POLGLikely benign-1RCV002605160; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987169489871694-
NM_002693.3(POLG):c.1239C>T (p.Leu413=)5428POLGLikely benign-1RCV003080922; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987169889871698-
NM_002693.3(POLG):c.1236G>A (p.Pro412=)5428POLGLikely benign750875156RCV000421700|RCV001436684|RCV002365500; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898717018987170115:g.89871701C>TClinGen:CA7724914CN169374 not specified;
NM_002693.3(POLG):c.1236G>T (p.Pro412=)5428POLGLikely benign750875156RCV002121749; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898717018987170189871701-
NM_002693.3(POLG):c.1235C>T (p.Pro412Leu)5428POLGUncertain significance587780420RCV000118009|RCV000804892|RCV003407506; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|158987170289871702NC_000015.9:g.89871702G>AClinGen:CA231402CN517202 not provided;
NM_002693.3(POLG):c.1223AGC[2] (p.Gln410del)5428POLGUncertain significance765446994RCV000523737|RCV000704825; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987170689871708NC_000015.9:g.89871707CTG[2]ClinGen:CA7724915CN169374 not specified;
NM_002693.3(POLG):c.1229A>T (p.Gln410Leu)5428POLGUncertain significance2055552006RCV001309162; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898717088987170889871708-
NM_002693.3(POLG):c.1220T>C (p.Phe407Ser)5428POLGUncertain significance749715845RCV001308246; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898717178987171789871717-
NM_002693.3(POLG):c.1198G>A (p.Val400Met)5428POLGConflicting interpretations of pathogenicity529639381RCV000812598; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898717398987173915:g.89871739C>T-
NM_002693.3(POLG):c.1197C>T (p.Asp399=)5428POLGLikely benign1406931016RCV002148547; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898717408987174089871740-
NM_002693.3(POLG):c.1190C>T (p.Ala397Val)5428POLGUncertain significance-1RCV003064294; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987174789871747NC_000015.9:g.89871747G>A-
NM_002693.3(POLG):c.1189G>A (p.Ala397Thr)5428POLGUncertain significance748412462RCV001297605; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898717488987174889871748-
NM_002693.3(POLG):c.1186T>C (p.Cys396Arg)5428POLGUncertain significance1567191994RCV000758434; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987175189871751NC_000015.9:g.89871751A>G-
NM_002693.3(POLG):c.1174C>G (p.Leu392Val)5428POLGConflicting interpretations of pathogenicity145289229RCV000188651|RCV000475753|RCV000515415|RCV000710181|RCV001119511|RCV001847818|RCV002317054; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MedGen:C3661900|MedGen:C4763519|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C095012315898717638987176315:g.89871763G>CClinGen:CA246660C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.3(POLG):c.1171-19_1171-16del5428POLGLikely benign2152067832RCV002172707; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898717828987178589871781-
NM_002693.3(POLG):c.1171-17C>T5428POLGLikely benign1331868744RCV002185347; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898717838987178389871783-
NM_002693.3(POLG):c.1171-17C>G5428POLGLikely benign-1RCV002636788; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987178389871783NC_000015.9:g.89871783G>C-
NM_002693.3(POLG):c.1171-18C>G5428POLGLikely benign1567192015RCV000758345; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987178489871784NC_000015.9:g.89871784G>C-
NM_002693.3(POLG):c.1171-24C>T5428POLGLikely benign369293614RCV000758346; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987179089871790NC_000015.9:g.89871790G>A-
NM_002693.3(POLG):c.1171-30A>G5428POLGLikely benign761504232RCV000758347; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987179689871796NC_000015.9:g.89871796T>C-
NM_002693.3(POLG):c.1171-37G>T5428POLGLikely benign1426619872RCV000758348; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987180389871803NC_000015.9:g.89871803C>A-
NM_002693.3(POLG):c.1170+18dup5428POLGBenign/Likely benign1274781490RCV000608068|RCV002064137; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987189789871898NC_000015.9:g.89871902dupClinGen:CA619857484CN169374 not specified;
NM_002693.3(POLG):c.1170+16G>A5428POLGLikely benign770920449RCV002173259; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898719008987190089871900-
NM_002693.3(POLG):c.1170+12G>A5428POLGLikely benign-1RCV003026852; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987190489871904NC_000015.9:g.89871904C>T-
NM_002693.3(POLG):c.1170+11G>T5428POLGLikely benign2055554714RCV002106002; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898719058987190589871905-
NM_002693.3(POLG):c.1170+9C>T5428POLGLikely benign373168754RCV000758344; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987190789871907NC_000015.9:g.89871907G>A-
NM_002693.3(POLG):c.1170+6G>A5428POLGUncertain significance749250690RCV000351234|RCV001850679; NMedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987191089871910NC_000015.9:g.89871910C>TClinGen:CA7724942CN239393 POLG-Related Spectrum Disorders;
NM_002693.3(POLG):c.1170+6G>T5428POLGUncertain significance-1RCV002607555; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987191089871910NC_000015.9:g.89871910C>A-
NM_002693.3(POLG):c.1164C>T (p.Asn388=)5428POLGConflicting interpretations of pathogenicity376649412RCV000732894|RCV002536489; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987192289871922NC_000015.9:g.89871922G>A-
NM_002693.3(POLG):c.1157G>A (p.Arg386His)5428POLGUncertain significance1394411503RCV000633557; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987192989871929NC_000015.9:g.89871929C>TClinGen:CA393764641C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)5428POLGConflicting interpretations of pathogenicity199759055RCV000188650|RCV000660573|RCV000758259|RCV000778454; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orph15898719308987193015:g.89871930G>AClinGen:CA316821C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NM_002693.3(POLG):c.1156C>G (p.Arg386Gly)5428POLGUncertain significance-1RCV003121498; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987193089871930NC_000015.9:g.89871930G>C-
NM_002693.3(POLG):c.1155T>C (p.Ile385=)5428POLGLikely benign-1RCV002761206; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987193189871931-
NM_002693.3(POLG):c.1153A>G (p.Ile385Val)5428POLGUncertain significance-1RCV002966609; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987193389871933NC_000015.9:g.89871933T>C-
NM_002693.3(POLG):c.1150G>C (p.Asp384His)5428POLGUncertain significance2055555179RCV001040791; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898719368987193615:g.89871936C>G-
NM_002693.3(POLG):c.1149G>A (p.Lys383=)5428POLGLikely benign767256165RCV000253594|RCV000868171|RCV000758343; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987193789871937NC_000015.9:g.89871937C>TClinGen:CA7724945CN169374 not specified;
NM_002693.3(POLG):c.1144A>G (p.Met382Val)5428POLGUncertain significance-1RCV002583110; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987194289871942NC_000015.9:g.89871942T>C-
NM_002693.3(POLG):c.1143C>T (p.Thr381=)5428POLGLikely benign-1RCV003043873; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987194389871943-
NM_002693.3(POLG):c.1141A>G (p.Thr381Ala)5428POLGUncertain significance772748692RCV002042215; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898719458987194589871945-
NM_002693.3(POLG):c.1140C>T (p.Gly380=)5428POLGLikely benign-1RCV003042252; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987194689871946-
NM_002693.3(POLG):c.1139G>T (p.Gly380Val)5428POLGUncertain significance-1RCV003031338; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987194789871947NC_000015.9:g.89871947C>A-
NM_002693.3(POLG):c.1126C>T (p.Leu376=)5428POLGBenign/Likely benign116165908RCV000127558|RCV000473863|RCV001529787|RCV002316398|RCV002483255; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|6 conditions158987196089871960NC_000015.9:g.89871960G>AClinGen:CA292869CN169374 not specified;
NM_002693.3(POLG):c.1122A>G (p.Arg374=)5428POLGLikely benign372759057RCV001402718|RCV001532266|RCV002436330; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C095012315898719648987196415:g.89871964T>CClinGen:CA7724950CN169374 not specified;
NM_002693.3(POLG):c.1121G>A (p.Arg374Gln)5428POLGUncertain significance1202773554RCV001035329|RCV001547493; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898719658987196515:g.89871965C>T-
NM_002693.3(POLG):c.1118C>G (p.Pro373Arg)5428POLGUncertain significance-1RCV002620332; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987196889871968NC_000015.9:g.89871968G>C-
NM_002693.3(POLG):c.1100C>T (p.Pro367Leu)5428POLGUncertain significance751761350RCV000816439; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898719868987198615:g.89871986G>A-
NM_002693.3(POLG):c.1100C>A (p.Pro367His)5428POLGUncertain significance-1RCV002455627|RCV003101900; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898719868987198689871986-
NM_002693.3(POLG):c.1098G>A (p.Gly366=)5428POLGLikely benign1195508608RCV000609265|RCV002063121; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898719888987198815:g.89871988C>TClinGen:CA492289809CN169374 not specified;
NM_002693.3(POLG):c.1098G>C (p.Gly366=)5428POLGLikely benign1195508608RCV002129476; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898719888987198889871988-
NM_002693.3(POLG):c.1097G>C (p.Gly366Ala)5428POLGUncertain significance757315161RCV000313023|RCV000804837|RCV002480061; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898719898987198915:g.89871989C>GClinGen:CA7724956CN169374 not specified;
NM_002693.3(POLG):c.1097G>A (p.Gly366Glu)5428POLGUncertain significance-1RCV003062827; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987198989871989NC_000015.9:g.89871989C>T-
NM_002693.3(POLG):c.1096G>A (p.Gly366Arg)5428POLGUncertain significance1340995594RCV002043162; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898719908987199089871990-
NM_002693.3(POLG):c.1094G>C (p.Gly365Ala)5428POLGUncertain significance781181789RCV000695008; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898719928987199215:g.89871992C>G-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.1094G>A (p.Gly365Glu)5428POLGUncertain significance-1RCV002618556; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987199289871992NC_000015.9:g.89871992C>T-
NM_002693.3(POLG):c.1091T>C (p.Val364Ala)5428POLGUncertain significance-1RCV002624774; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987199589871995NC_000015.9:g.89871995A>G-
NM_002693.3(POLG):c.1090G>A (p.Val364Ile)5428POLGUncertain significance2055556252RCV001872110; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898719968987199689871996-
NM_002693.3(POLG):c.1087T>C (p.Tyr363His)5428POLGUncertain significance1380215532RCV001979998; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898719998987199989871999-
NM_002693.3(POLG):c.1084C>G (p.Leu362Val)5428POLGUncertain significance763248358RCV000758433|RCV001119512|RCV001578158; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MedGen:CN517202158987200289872002NC_000015.9:g.89872002G>C-
NM_002693.3(POLG):c.1083A>C (p.Arg361Ser)5428POLGUncertain significance-1RCV002720035; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987200389872003NC_000015.9:g.89872003T>G-
NM_002693.3(POLG):c.1080C>T (p.His360=)5428POLGLikely benign2055556429RCV001501534; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898720068987200689872006-
NM_002693.3(POLG):c.1076T>C (p.Val359Ala)5428POLGUncertain significance-1RCV003027668; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987201089872010NC_000015.9:g.89872010A>G-
NM_002693.3(POLG):c.1066C>T (p.Leu356=)5428POLGConflicting interpretations of pathogenicity371431444RCV000127557|RCV000476514|RCV000726665|RCV001119513|RCV002408634; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MedGen:C4763519|MeSH:D030342,MedGen:C0950123158987202089872020NC_000015.9:g.89872020G>AClinGen:CA292867CN169374 not specified;
NM_002693.3(POLG):c.1066C>G (p.Leu356Val)5428POLGUncertain significance371431444RCV001044518; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898720208987202015:g.89872020G>C-
NM_002693.3(POLG):c.1062C>T (p.Asn354=)5428POLGConflicting interpretations of pathogenicity778662837RCV001119514|RCV001396114|RCV002411636; NMedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898720248987202415:g.89872024G>A-
NM_002693.3(POLG):c.1061A>G (p.Asn354Ser)5428POLGUncertain significance148697152RCV001892026|RCV002473314; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898720258987202589872025-
NM_002693.3(POLG):c.1060A>G (p.Asn354Asp)5428POLGConflicting interpretations of pathogenicity796052916RCV000188692|RCV002514038; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987202689872026NC_000015.9:g.89872026T>CClinGen:CA316890CN517202 not provided;
NM_002693.3(POLG):c.1057G>A (p.Val353Ile)5428POLGUncertain significance1319774669RCV001121508|RCV001856602; NMedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898720298987202915:g.89872029C>T-
NM_002693.3(POLG):c.1057G>T (p.Val353Phe)5428POLGUncertain significance-1RCV002628115; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987202989872029NC_000015.9:g.89872029C>A-
NM_002693.3(POLG):c.1056T>C (p.Ser352=)5428POLGLikely benign1567192184RCV000758342; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987203089872030NC_000015.9:g.89872030A>G-
NM_002693.3(POLG):c.1054A>G (p.Ser352Gly)5428POLGUncertain significance1326621426RCV001038762|RCV002400231; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898720328987203215:g.89872032T>C-
NM_002693.3(POLG):c.1053C>T (p.Ser351=)5428POLGLikely benign2152067986RCV002141433; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898720338987203389872033-
NM_002693.3(POLG):c.1047C>T (p.Asp349=)5428POLGLikely benign-1RCV003085966; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987203989872039-
NM_002693.3(POLG):c.1036G>T (p.Asp346Tyr)5428POLGUncertain significance2152067994RCV001966084; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898720508987205089872050-
NM_002693.3(POLG):c.1024-3C>T5428POLGUncertain significance2152068001RCV002028067; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898720658987206589872065-
NM_002693.3(POLG):c.1024-4C>G5428POLGLikely benign2152068002RCV001490397; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898720668987206689872066-
NM_002693.3(POLG):c.1024-6C>T5428POLGLikely benign-1RCV002857689; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987206889872068NC_000015.9:g.89872068G>A-
NM_002693.3(POLG):c.1024-9G>T5428POLGLikely benign2152068008RCV001393256; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898720718987207189872071-
NM_002693.3(POLG):c.1024-11T>A5428POLGUncertain significance111879000RCV001888558; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898720738987207389872073-
NM_002693.3(POLG):c.1024-12C>G5428POLGLikely benign-1RCV002638124; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987207489872074NC_000015.9:g.89872074G>C-
NM_002693.3(POLG):c.1024-14C>T5428POLGLikely benign1484888048RCV002160961; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898720768987207689872076-
NM_002693.3(POLG):c.1024-19C>T5428POLGLikely benign-1RCV003087786; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987208189872081NC_000015.9:g.89872081G>A-
NM_002693.3(POLG):c.1024-20C>G5428POLGLikely benign-1RCV002775339; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987208289872082NC_000015.9:g.89872082G>C-
NM_002693.3(POLG):c.1024-24A>G5428POLGLikely benign1567192219RCV000758340; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987208689872086NC_000015.9:g.89872086T>C-
NM_002693.3(POLG):c.1024-38C>T5428POLGBenign138069091RCV000758542; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987210089872100NC_000015.9:g.89872100G>A-
NM_002693.3(POLG):c.1024-44C>T5428POLGLikely benign370557654RCV000758341; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987210689872106NC_000015.9:g.89872106G>A-
NM_002693.3(POLG):c.1023+18G>A5428POLGUncertain significance-1RCV002646813; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987215689872156NC_000015.9:g.89872156C>T-
NM_002693.3(POLG):c.1023+17G>C5428POLGLikely benign778750911RCV000758493; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987215789872157NC_000015.9:g.89872157C>G-
NM_002693.3(POLG):c.1023+17G>A5428POLGLikely benign778750911RCV002212802|RCV002498224; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898721578987215789872157-
NM_002693.3(POLG):c.1023+16C>T5428POLGLikely benign748111279RCV002115030; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898721588987215889872158-
NM_002693.3(POLG):c.1023+16C>A5428POLGUncertain significance-1RCV002894668; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987215889872158NC_000015.9:g.89872158G>T-
NM_002693.3(POLG):c.1023+15C>T5428POLGLikely benign-1RCV003022240; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987215989872159NC_000015.9:g.89872159G>A-
NM_002693.3(POLG):c.1023+11A>G5428POLGLikely benign1274510765RCV002108069; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898721638987216389872163-
NM_002693.3(POLG):c.1023+10C>T5428POLGLikely benign777477062RCV000758492; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987216489872164NC_000015.9:g.89872164G>A-
NM_002693.3(POLG):c.1023+8C>T5428POLGLikely benign2055559095RCV002208446; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898721668987216689872166-
NM_002693.3(POLG):c.1023+7G>T5428POLGLikely benign2055559130RCV002159816; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898721678987216789872167-
NM_002693.3(POLG):c.1022_1023delinsAT (p.Ala341Asp)5428POLGUncertain significance2055559226RCV001217482; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987217489872175NC_000015.9:g.89872174_89872175delinsAT-
NM_002693.3(POLG):c.1022C>T (p.Ala341Val)5428POLGUncertain significance746639234RCV001044732|RCV002281155; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898721758987217515:g.89872175G>A-
NM_002693.3(POLG):c.1008C>T (p.Ala336=)5428POLGLikely benign2055559518RCV001487137; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898721898987218989872189-
NM_002693.3(POLG):c.1007C>T (p.Ala336Val)5428POLGUncertain significance-1RCV002727061; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987219089872190NC_000015.9:g.89872190G>A-
NM_002693.3(POLG):c.1002G>A (p.Arg334=)5428POLGLikely benign1057520944RCV000431879|RCV000866046; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898721958987219515:g.89872195C>TClinGen:CA16607181CN169374 not specified;
NM_002693.3(POLG):c.1001G>A (p.Arg334Lys)5428POLGUncertain significance776437525RCV000474734; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987219689872196NC_000015.9:g.89872196C>TClinGen:CA7724984C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.996C>G (p.Ser332=)5428POLGLikely benign1183183052RCV001484925; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898722018987220189872201-
NM_002693.3(POLG):c.996C>A (p.Ser332=)5428POLGLikely benign-1RCV002876140; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987220189872201-
NM_002693.3(POLG):c.995C>T (p.Ser332Phe)5428POLGUncertain significance1567192290RCV001863770|RCV002478113; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898722028987220289872202-
NM_002693.3(POLG):c.990G>T (p.Gln330His)5428POLGUncertain significance-1RCV002823917; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987220789872207NC_000015.9:g.89872207C>A-
NM_002693.3(POLG):c.989A>G (p.Gln330Arg)5428POLGUncertain significance1423452317RCV000814252; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898722088987220815:g.89872208T>C-
NM_002693.3(POLG):c.987C>T (p.Gly329=)5428POLGUncertain significance2152068113RCV001896636; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898722108987221089872210-
NM_002693.3(POLG):c.983A>G (p.Gln328Arg)5428POLGUncertain significance886043556RCV000296901|RCV002519275; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898722148987221415:g.89872214T>CClinGen:CA10605655CN169374 not specified;
NM_002693.3(POLG):c.979A>G (p.Lys327Glu)5428POLGUncertain significance-1RCV002952660; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987221889872218NC_000015.9:g.89872218T>C-
NM_002693.3(POLG):c.978A>C (p.Thr326=)5428POLGLikely benign1161197876RCV000862393|RCV001459421; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898722198987221915:g.89872219T>G-
NM_002693.3(POLG):c.977C>T (p.Thr326Ile)5428POLGUncertain significance-1RCV003092406; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987222089872220NC_000015.9:g.89872220G>A-
NM_002693.3(POLG):c.975C>A (p.Pro325=)5428POLGConflicting interpretations of pathogenicity551973680RCV000127556|RCV000727457|RCV001084800|RCV002312591; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123158987222289872222NC_000015.9:g.89872222G>TClinGen:CA292865CN169374 not specified;
NM_002693.3(POLG):c.975C>G (p.Pro325=)5428POLGBenign/Likely benign551973680RCV000758541|RCV000868575; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158987222289872222NC_000015.9:g.89872222G>C-
NM_002693.3(POLG):c.975C>T (p.Pro325=)5428POLGLikely benign551973680RCV002083314; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898722228987222289872222-
NM_002693.3(POLG):c.971C>G (p.Pro324Arg)5428POLGUncertain significance764492040RCV001369621|RCV002548624; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898722268987222689872226-
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)5428POLGConflicting interpretations of pathogenicity2307437RCV000127555|RCV000468571|RCV000710190|RCV001121509|RCV001847613|RCV002371780; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MedGen:C4763519|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C095012315898722278987222715:g.89872227G>AClinGen:CA292863,UniProtKB:P54098#VAR_014905C0751651 Mitochondrial diseases;
NM_002693.3(POLG):c.970C>A (p.Pro324Thr)5428POLGConflicting interpretations of pathogenicity2307437RCV000195076|RCV000701310|RCV000992693; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898722278987222715:g.89872227G>TClinGen:CA209652CN169374 not specified;
NM_002693.3(POLG):c.968A>G (p.Gln323Arg)5428POLGUncertain significance2055560405RCV001306467; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898722298987222989872229-
NM_002693.3(POLG):c.964G>A (p.Val322Ile)5428POLGUncertain significance1204119738RCV001951758; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898722338987223389872233-
NM_002693.3(POLG):c.955A>G (p.Lys319Glu)5428POLGConflicting interpretations of pathogenicity766465907RCV000758272; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987224289872242NC_000015.9:g.89872242T>C-
NM_002693.3(POLG):c.952G>A (p.Gly318Ser)5428POLGUncertain significance-1RCV002626337; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987224589872245NC_000015.9:g.89872245C>T-
NM_002693.3(POLG):c.950A>G (p.Gln317Arg)5428POLGUncertain significance2152068136RCV002024435; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898722478987224789872247-
NM_002693.3(POLG):c.948G>A (p.Lys316=)5428POLGBenign/Likely benign61756401RCV000118023|RCV000433050|RCV000459441|RCV001121510|RCV001847714|RCV002312232; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C095012315898722498987224915:g.89872249C>TClinGen:CA232565CN517202 not provided;
NM_002693.3(POLG):c.945C>A (p.Ala315=)5428POLGLikely benign1596359643RCV000941238; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898722528987225215:g.89872252G>T-
NM_002693.3(POLG):c.937A>C (p.Ile313Leu)5428POLGUncertain significance2055560967RCV001864125; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898722608987226089872260-
NM_002693.3(POLG):c.935G>C (p.Trp312Ser)5428POLGUncertain significance-1RCV002877460; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987226289872262NC_000015.9:g.89872262C>G-
NM_002693.3(POLG):c.929G>T (p.Ser310Ile)5428POLGUncertain significance-1RCV002785583; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987226889872268NC_000015.9:g.89872268C>A-
NM_002693.3(POLG):c.927C>T (p.Arg309=)5428POLGLikely benign370964643RCV001410308; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898722708987227089872270-
NM_002693.3(POLG):c.927C>A (p.Arg309=)5428POLGLikely benign370964643RCV002216787; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898722708987227089872270-
NM_002693.3(POLG):c.916A>G (p.Ser306Gly)5428POLGUncertain significance896972079RCV001916885; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898722818987228189872281-
NM_002693.3(POLG):c.906A>G (p.Ser302=)5428POLGLikely benign1383637569RCV001505951; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898722918987229115:g.89872291T>C-
NM_002693.3(POLG):c.903C>A (p.Ile301=)5428POLGLikely benign769104909RCV001466161; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898722948987229489872294-
NM_002693.3(POLG):c.901A>G (p.Ile301Val)5428POLGUncertain significance2152068160RCV001867760; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898722968987229689872296-
NM_002693.3(POLG):c.897G>C (p.Met299Ile)5428POLGUncertain significance-1RCV002659609; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987230089872300NC_000015.9:g.89872300C>G-
NM_002693.3(POLG):c.895A>G (p.Met299Val)5428POLGUncertain significance140262282RCV001774254|RCV001868571|RCV002290748; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:55015898723028987230289872302-
NM_002693.3(POLG):c.890T>C (p.Met297Thr)5428POLGUncertain significance-1RCV003047630; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987230789872307NC_000015.9:g.89872307A>G-
NM_002693.3(POLG):c.883A>G (p.Met295Val)5428POLGUncertain significance1460331646RCV000801152|RCV001772068; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898723148987231415:g.89872314T>C-
NM_002693.3(POLG):c.869G>A (p.Arg290His)5428POLGUncertain significance146603953RCV000802900|RCV000992692|RCV002495084; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|6 conditions15898723288987232815:g.89872328C>T-
NM_002693.3(POLG):c.868C>T (p.Arg290Cys)5428POLGConflicting interpretations of pathogenicity753416225RCV001093440|RCV001847155|RCV002555968|RCV002554873|RCV003155359; NMedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041, Orphanet:3569815898723298987232915:g.89872329G>A-
NM_002693.3(POLG):c.867G>A (p.Met289Ile)5428POLGUncertain significance2055562116RCV001064186; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898723308987233015:g.89872330C>T-
NM_002693.3(POLG):c.866T>C (p.Met289Thr)5428POLGUncertain significance2152068184RCV001976171; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898723318987233189872331-
NM_002693.3(POLG):c.865A>C (p.Met289Leu)5428POLGUncertain significance2152068187RCV002022069; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898723328987233289872332-
NM_002693.3(POLG):c.865A>G (p.Met289Val)5428POLGUncertain significance-1RCV002947607; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987233289872332NC_000015.9:g.89872332T>C-
NM_002693.3(POLG):c.863G>A (p.Arg288His)5428POLGUncertain significance796052902RCV000188647|RCV001323328|RCV003155113; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374158987233489872334NC_000015.9:g.89872334C>TClinGen:CA316817CN169374 not specified;
NM_002693.3(POLG):c.862C>T (p.Arg288Cys)5428POLGConflicting interpretations of pathogenicity564582352RCV000188646|RCV000806434|RCV000768290; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298; MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:158987233589872335NC_000015.9:g.89872335G>AClinGen:CA316815CN169374 not specified;
NM_002693.3(POLG):c.856G>C (p.Gly286Arg)5428POLGUncertain significance-1RCV003027480; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987234189872341NC_000015.9:g.89872341C>G-
NM_002693.3(POLG):c.856-17CTC[6]5428POLGConflicting interpretations of pathogenicity200056162RCV001663444|RCV003106246; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898723438987234489872343-
NM_002693.3(POLG):c.856-17CTC[4]5428POLGBenign/Likely benign200056162RCV000188547|RCV000676326|RCV001080908|RCV002444764; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123158987234489872346NC_000015.9:g.89872344GAG[4]ClinGen:CA316640CN517202 not provided;
NM_002693.3(POLG):c.856-3C>T5428POLGUncertain significance576339221RCV001373388|RCV002493902; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898723448987234489872344-
NM_002693.3(POLG):c.856-6C>T5428POLGLikely benign543449991RCV002066048; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898723478987234715:g.89872347G>A-
NM_002693.3(POLG):c.856-11C>T5428POLGBenign/Likely benign375058609RCV000436691|RCV002061477; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898723528987235215:g.89872352G>AClinGen:CA7725014CN169374 not specified;
NM_002693.3(POLG):c.856-14C>T5428POLGLikely benign745487374RCV002120111; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898723558987235589872355-
NM_002693.3(POLG):c.856-15C>G5428POLGLikely benign-1RCV002756363; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987235689872356NC_000015.9:g.89872356G>C-
NM_002693.3(POLG):c.856-18_856-16del5428POLGLikely benign-1RCV002760728; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987235789872359NC_000015.9:g.89872358_89872360del-
NM_002693.3(POLG):c.855+19A>G5428POLGLikely benign888039212RCV000758540; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987329389873293NC_000015.9:g.89873293T>C-
NM_002693.3(POLG):c.855+17del5428POLGLikely benign-1RCV002913102; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987329589873295NC_000015.9:g.89873296del-
NM_002693.3(POLG):c.855+16C>A5428POLGLikely benign1567192747RCV000758539; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987329689873296NC_000015.9:g.89873296G>T-
NM_002693.3(POLG):c.855+9C>A5428POLGLikely benign-1RCV002643696; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987330389873303NC_000015.9:g.89873303G>T-
NM_002693.3(POLG):c.855+4A>G5428POLGUncertain significance1596360240RCV000792901; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898733088987330815:g.89873308T>C-
NM_002693.3(POLG):c.855G>C (p.Gln285His)5428POLGUncertain significance141367015RCV000188644|RCV000758410; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898733128987331215:g.89873312C>GClinGen:CA316812CN517202 not provided;
NM_002693.3(POLG):c.852C>T (p.Ile284=)5428POLGBenign/Likely benign41540414RCV000127553|RCV000471756|RCV002312921; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123158987331589873315NC_000015.9:g.89873315G>AClinGen:CA292861CN169374 not specified;
NM_002693.3(POLG):c.851T>C (p.Ile284Thr)5428POLGUncertain significance2055574542RCV001726966|RCV002032688; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898733168987331689873316-
NM_002693.3(POLG):c.848T>C (p.Leu283Pro)5428POLGUncertain significance-1RCV002304923; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898733198987331989873319-
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp)5428POLGConflicting interpretations of pathogenicity1290567099RCV000989379|RCV000992691|RCV002468611; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:29815898733238987332315:g.89873323A>C-
NM_002693.3(POLG):c.833T>C (p.Ile278Thr)5428POLGUncertain significance779502496RCV000188623|RCV000806820; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987333489873334NC_000015.9:g.89873334A>GClinGen:CA316776CN169374 not specified;
NM_002693.3(POLG):c.830A>T (p.His277Leu)5428POLGConflicting interpretations of pathogenicity138929605RCV000188643|RCV000231645|RCV000396333|RCV000616176|RCV001004406|RCV001847834|RCV002226693|RCV002514036|RCV003235111; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041, Orphanet:35698|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0013350,MedGen:C31509115898733378987333715:g.89873337T>AClinGen:CA316810C0342782 Mitochondrial DNA depletion syndrome;
NM_002693.3(POLG):c.830A>G (p.His277Arg)5428POLGUncertain significance138929605RCV001222280|RCV002429941; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898733378987333715:g.89873337T>C-
NM_002693.3(POLG):c.826G>A (p.Ala276Thr)5428POLGUncertain significance778531134RCV000203005|RCV002515497; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987334189873341NC_000015.9:g.89873341C>TClinGen:CA249206CN169374 not specified;
NM_002693.3(POLG):c.824G>A (p.Arg275Gln)5428POLGConflicting interpretations of pathogenicity1555453950RCV000758488|RCV002485967; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions158987334389873343NC_000015.9:g.89873343C>T-
NM_002693.3(POLG):c.815C>G (p.Ser272Cys)5428POLGUncertain significance-1RCV003055090; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987335289873352NC_000015.9:g.89873352G>C-
NM_002693.3(POLG):c.814T>A (p.Ser272Thr)5428POLGUncertain significance1567192772RCV000815643; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898733538987335315:g.89873353A>T-
NM_002693.3(POLG):c.811G>A (p.Val271Ile)5428POLGUncertain significance2141806409RCV001916124; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898733568987335689873356-
NM_002693.3(POLG):c.810T>A (p.Asn270Lys)5428POLGUncertain significance-1RCV002775814; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987335789873357NC_000015.9:g.89873357A>T-
NM_002693.3(POLG):c.809A>G (p.Asn270Ser)5428POLGUncertain significance1363908609RCV001244333|RCV002568585|RCV003132344; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:CN51720215898733588987335815:g.89873358T>C-
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)5428POLGConflicting interpretations of pathogenicity61752784RCV000177165|RCV000233823|RCV000415771|RCV000709833|RCV000768291|RCV001121511|RCV001847817|RCV002227084|RCV002312719|RCV002516726; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MedGen:CN180166|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; MONDO:MONDO:0008758,MedGen:C020515898733648987336415:g.89873364C>GClinGen:CA202319,UniProtKB:P54098#VAR_058873CN517202 not provided;
NM_002693.3(POLG):c.799G>C (p.Val267Leu)5428POLGLikely benign1567192788RCV000758486; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987336889873368NC_000015.9:g.89873368C>G-
NM_002693.3(POLG):c.798G>T (p.Val266=)5428POLGConflicting interpretations of pathogenicity143631183RCV000186652|RCV000297854|RCV000554937|RCV000723862|RCV002316397; NMedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123158987336989873369NC_000015.9:g.89873369C>AClinGen:CA232563CN169374 not specified;
NM_002693.3(POLG):c.773A>G (p.Gln258Arg)5428POLGUncertain significance761830723RCV000804872; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898733948987339415:g.89873394T>C-
NM_002693.3(POLG):c.771C>G (p.Thr257=)5428POLGLikely benign-1RCV003014063; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987339689873396-
NM_002693.3(POLG):c.768C>T (p.Pro256=)5428POLGLikely benign-1RCV002972009|RCV003403989; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158987339989873399-
NM_002693.3(POLG):c.761G>A (p.Ser254Asn)5428POLGUncertain significance2055575699RCV001969625; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898734068987340689873406-
NM_002693.3(POLG):c.760A>T (p.Ser254Cys)5428POLGUncertain significance-1RCV003038214; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987340789873407NC_000015.9:g.89873407T>A-
NM_002693.3(POLG):c.759C>G (p.Ala253=)5428POLGLikely benign1290260260RCV002080753; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898734088987340889873408-
NM_002693.3(POLG):c.757G>C (p.Ala253Pro)5428POLGUncertain significance-1RCV002705563; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987341089873410NC_000015.9:g.89873410C>G-
NM_002693.3(POLG):c.753T>A (p.Thr251=)5428POLGLikely benign148099686RCV000758538; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987341489873414NC_000015.9:g.89873414A>T-
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)5428POLGConflicting interpretations of pathogenicity113994094RCV000014447|RCV000014448|RCV000020484|RCV000184009|RCV000188641|RCV000194055|RCV000262479|RCV000415105|RCV001004407|RCV001678594|RCV001642225|RCV001813985|RCV001813742|RCV001847602|RCV002272019|RCV002319423|RCV002313708|RCV002287334|RCV003458331; NMONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041, Orphanet:298|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen15898734158987341515:g.89873415G>AClinVar:1698500,ClinGen:CA123142,UniProtKB:P54098#VAR_023664,OMIM:174763.0007C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
NM_002693.3(POLG):c.751A>C (p.Thr251Pro)5428POLGUncertain significance-1RCV002876469; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987341689873416NC_000015.9:g.89873416T>G-
NM_002693.3(POLG):c.744G>C (p.Glu248Asp)5428POLGUncertain significance753407311RCV000498616|RCV000542477|RCV002524070; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898734238987342315:g.89873423C>GClinGen:CA7725049CN169374 not specified;
NM_002693.3(POLG):c.741G>T (p.Leu247=)5428POLGLikely benign2055575944RCV001431593; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898734268987342689873426-
NM_002693.3(POLG):c.739C>G (p.Leu247Val)5428POLGUncertain significance754696832RCV000728191|RCV001301451|RCV002507281|RCV002535059; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MeSH:D030342,MedGen:C0950123158987342889873428NC_000015.9:g.89873428G>C-
NM_002693.3(POLG):c.735C>A (p.Ile245=)5428POLGLikely benign-1RCV002681091; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987343289873432-
NM_002693.3(POLG):c.732C>T (p.Leu244=)5428POLGLikely benign1446601027RCV002111586; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898734358987343589873435-
NM_002693.3(POLG):c.730C>G (p.Leu244Val)5428POLGConflicting interpretations of pathogenicity367959489RCV001068503|RCV002480430; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898734378987343715:g.89873437G>C-
NM_002693.3(POLG):c.729C>A (p.Asp243Glu)5428POLGUncertain significance757917194RCV000523877|RCV000758485|RCV000763998|RCV001121512; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MedGen:C476351915898734388987343815:g.89873438G>TClinGen:CA7725053CN169374 not specified;
NM_002693.3(POLG):c.722C>T (p.Pro241Leu)5428POLGUncertain significance1452571273RCV001326765; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898734458987344589873445-
NM_002693.3(POLG):c.719C>T (p.Ser240Leu)5428POLGUncertain significance369175235RCV000710189|RCV001216051|RCV002485276; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions158987344889873448NC_000015.9:g.89873448G>AClinGen:CA316808CN169374 not specified;
NM_002693.3(POLG):c.718T>C (p.Ser240Pro)5428POLGUncertain significance2141806695RCV001914490; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898734498987344989873449-
NM_002693.3(POLG):c.717G>A (p.Leu239=)5428POLGLikely benign1188801234RCV001493419; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898734508987345015:g.89873450C>T-
NM_002693.3(POLG):c.713A>G (p.Gln238Arg)5428POLGUncertain significance56410699RCV001219965; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898734548987345415:g.89873454T>C-
NM_002693.3(POLG):c.702T>C (p.Ser234=)5428POLGLikely benign2141806756RCV002178094; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898734658987346589873465-
NM_002693.3(POLG):c.695G>C (p.Arg232Pro)5428POLGUncertain significance113994093RCV002044847; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898734728987347289873472-
NM_002693.3(POLG):c.691G>A (p.Glu231Lys)5428POLGUncertain significance-1RCV002295181; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898734768987347689873476-
NM_002693.3(POLG):c.687G>A (p.Val229=)5428POLGLikely benign768884865RCV001401628; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898734808987348089873480-
NM_002693.3(POLG):c.684G>A (p.Leu228=)5428POLGLikely benign2141806818RCV002094509; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898734838987348389873483-
NM_002693.3(POLG):c.678G>C (p.Gln226His)5428POLGConflicting interpretations of pathogenicity147282197RCV000633538|RCV000678826|RCV000710188|RCV001121513|RCV001263148|RCV001808471|RCV002362986|RCV003317141; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|Human Phenotype Ontology:HP:0000717,MONDO:MONDO:0005260,MedGen:C0004352,OMIM:209850; Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,158987348989873489NC_000015.9:g.89873489C>GClinGen:CA316806CN169374 not specified;
NM_002693.3(POLG):c.666C>T (p.Ser222=)5428POLGLikely benign1169956926RCV002219287; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898735018987350189873501-
NM_002693.3(POLG):c.663T>C (p.Tyr221=)5428POLGLikely benign1596360425RCV001478209; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898735048987350415:g.89873504A>G-
NM_002693.3(POLG):c.660-7C>T5428POLGLikely benign766053530RCV000866106|RCV001434423; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898735148987351415:g.89873514G>A-
NM_002693.3(POLG):c.660-9C>T5428POLGLikely benign776555301RCV000940463|RCV001585873; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898735168987351615:g.89873516G>A-
NM_002693.3(POLG):c.660-10C>T5428POLGLikely benign-1RCV002926751; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987351789873517NC_000015.9:g.89873517G>A-
NM_002693.3(POLG):c.660-11A>G5428POLGBenign/Likely benign369731644RCV000127551|RCV002055755; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987351889873518NC_000015.9:g.89873518T>CClinGen:CA292860CN169374 not specified;
NM_002693.3(POLG):c.660-11A>C5428POLGLikely benign-1RCV002741675; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987351889873518NC_000015.9:g.89873518T>G-
NM_002693.3(POLG):c.660-29T>C5428POLGLikely benign374159057RCV000758537; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987353689873536NC_000015.9:g.89873536A>G-
NM_002693.3(POLG):c.660-46G>A5428POLGBenign2307430RCV000758404; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987355389873553NC_000015.9:g.89873553C>T-
NM_002693.3(POLG):c.659+16G>C5428POLGLikely benign-1RCV002927392; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987631189876311NC_000015.9:g.89876311C>G-
NM_002693.3(POLG):c.659+15G>A5428POLGLikely benign2055615863RCV002110530; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898763128987631289876312-
NM_002693.3(POLG):c.659+15G>C5428POLGLikely benign-1RCV003122003; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987631289876312NC_000015.9:g.89876312C>G-
NM_002693.3(POLG):c.659+11G>T5428POLGBenign3087379RCV000188545|RCV000758403; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987631689876316NC_000015.9:g.89876316C>AClinGen:CA316638CN169374 not specified;
NM_002693.3(POLG):c.659+7A>T5428POLGLikely benign1233914532RCV001960899; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898763208987632089876320-
NM_002693.3(POLG):c.659+7A>G5428POLGLikely benign-1RCV002816050; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987632089876320NC_000015.9:g.89876320T>C-
NM_002693.3(POLG):c.659+6T>C5428POLGConflicting interpretations of pathogenicity1429417228RCV000611606|RCV001860268; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898763218987632115:g.89876321A>GClinGen:CA658798418CN169374 not specified;
NM_002693.3(POLG):c.659+4A>G5428POLGUncertain significance1260147650RCV001936240; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898763238987632389876323-
NM_002693.3(POLG):c.659G>C (p.Trp220Ser)5428POLGUncertain significance1004988362RCV000466281; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987632789876327NC_000015.9:g.89876327C>GClinGen:CA16614768C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.653C>T (p.Ser218Leu)5428POLGUncertain significance1060500775RCV000471830; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987633389876333NC_000015.9:g.89876333G>AClinGen:CA16614584C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.647C>T (p.Ser216Phe)5428POLGUncertain significance763592738RCV001986384; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898763398987633989876339-
NM_002693.3(POLG):c.642C>T (p.Ala214=)5428POLGLikely benign-1RCV002585249; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987634489876344-
NM_002693.3(POLG):c.641C>T (p.Ala214Val)5428POLGUncertain significance948866053RCV000459940|RCV000550484|RCV003258816|RCV002526395; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0000451,MedGen:C0751964; MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041, Orphanet:35698|MeSH:D030342,MedGen:C0950123|MedGen:C3661900158987634589876345NC_000015.9:g.89876345G>AClinGen:CA16614585C0342782 Mitochondrial DNA depletion syndrome;
NM_002693.3(POLG):c.638T>C (p.Val213Ala)5428POLGUncertain significance1596362016RCV001320292; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898763488987634889876348-
NM_002693.3(POLG):c.635C>T (p.Ala212Val)5428POLGUncertain significance751130039RCV000758483; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987635189876351NC_000015.9:g.89876351G>A-
NM_002693.3(POLG):c.631T>C (p.Leu211=)5428POLGLikely benign-1RCV003079950; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987635589876355-
NM_002693.3(POLG):c.629C>T (p.Thr210Ile)5428POLGUncertain significance1450989575RCV000498550|RCV001227953|RCV002489220; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898763578987635715:g.89876357G>AClinGen:CA393770286CN169374 not specified;
NM_002693.3(POLG):c.625C>G (p.Pro209Ala)5428POLGUncertain significance-1RCV002572253; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987636189876361NC_000015.9:g.89876361G>C-
NM_002693.3(POLG):c.620C>G (p.Thr207Ser)5428POLGUncertain significance-1RCV002299253; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898763668987636689876366-
NM_002693.3(POLG):c.617G>A (p.Gly206Glu)5428POLGUncertain significance2055616949RCV001205726; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898763698987636915:g.89876369C>T-
NM_002693.3(POLG):c.614A>G (p.Glu205Gly)5428POLGUncertain significance2055617012RCV001049356; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898763728987637215:g.89876372T>C-
NM_002693.3(POLG):c.611C>G (p.Ala204Gly)5428POLGUncertain significance1015074661RCV000758482; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987637589876375NC_000015.9:g.89876375G>C-
NM_002693.3(POLG):c.609G>C (p.Leu203Phe)5428POLGUncertain significance796052900RCV000188638|RCV001857639; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987637789876377NC_000015.9:g.89876377C>GClinGen:CA316804CN169374 not specified;
NM_002693.3(POLG):c.603C>T (p.Val201=)5428POLGConflicting interpretations of pathogenicity768005050RCV000188637|RCV000724613|RCV001417417; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898763838987638315:g.89876383G>AClinGen:CA241479CN169374 not specified;
NM_002693.3(POLG):c.602T>G (p.Val201Gly)5428POLGUncertain significance750928338RCV000549492; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987638489876384NC_000015.9:g.89876384A>CClinGen:CA7725088C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.601G>T (p.Val201Phe)5428POLGUncertain significance2141814471RCV001914482; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898763858987638589876385-
NM_002693.3(POLG):c.600G>A (p.Glu200=)5428POLGLikely benign-1RCV003016615; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987638689876386-
NM_002693.3(POLG):c.598G>C (p.Glu200Gln)5428POLGUncertain significance756447384RCV001234424; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898763888987638815:g.89876388C>G-
NM_002693.3(POLG):c.584T>C (p.Leu195Pro)5428POLGUncertain significance794727267RCV000175728|RCV001852154; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898764028987640215:g.89876402A>GClinGen:CA241471CN169374 not specified;
NM_002693.3(POLG):c.583C>A (p.Leu195Met)5428POLGUncertain significance997971133RCV002001194; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898764038987640389876403-
NM_002693.3(POLG):c.581C>T (p.Ala194Val)5428POLGConflicting interpretations of pathogenicity779122022RCV000188544|RCV000727522|RCV001044308|RCV002354530; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898764058987640515:g.89876405G>AClinGen:CA316636CN169374 not specified;
NM_002693.3(POLG):c.578G>A (p.Arg193Gln)5428POLGUncertain significance3176162RCV000020482|RCV000541557|RCV000724388|RCV001121514|RCV002313715|RCV002476997; NMONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MedGen:C4763519|MeSH:D030342,MedGen:C0950123|6 conditions15898764088987640815:g.89876408C>TClinGen:CA241475,UniProtKB:P54098#VAR_019267C0751651 Mitochondrial diseases;
NM_002693.3(POLG):c.578G>C (p.Arg193Pro)5428POLGUncertain significance-1RCV002736453; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987640889876408NC_000015.9:g.89876408C>G-
NM_002693.3(POLG):c.577C>T (p.Arg193Trp)5428POLGUncertain significance772048616RCV000188690|RCV001857641; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987640989876409NC_000015.9:g.89876409G>AClinGen:CA316887CN169374 not specified;
NM_002693.3(POLG):c.569C>T (p.Pro190Leu)5428POLGUncertain significance1179914559RCV001364371; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898764178987641789876417-
NM_002693.3(POLG):c.568C>G (p.Pro190Ala)5428POLGUncertain significance-1RCV002791950; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987641889876418NC_000015.9:g.89876418G>C-
NM_002693.3(POLG):c.565A>G (p.Ile189Val)5428POLGUncertain significance769547245RCV000188689|RCV002514037; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987642189876421NC_000015.9:g.89876421T>CClinGen:CA316885CN169374 not specified;
NM_002693.3(POLG):c.553G>A (p.Val185Ile)5428POLGUncertain significance953495957RCV001317394; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898764338987643389876433-
NM_002693.3(POLG):c.552C>T (p.Ala184=)5428POLGLikely benign-1RCV002629140; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987643489876434-
NM_002693.3(POLG):c.549G>C (p.Glu183Asp)5428POLGUncertain significance1555454267RCV000521117|RCV002527564; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898764378987643715:g.89876437C>GClinGen:CA393770900CN169374 not specified;
NM_002693.3(POLG):c.547G>C (p.Glu183Gln)5428POLGUncertain significance762582785RCV000597762|RCV001298502; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898764398987643915:g.89876439C>GClinGen:CA7725096CN169374 not specified;
NM_002693.3(POLG):c.544G>C (p.Gly182Arg)5428POLGUncertain significance768242927RCV001771029|RCV001861106; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898764428987644289876442-
NM_002693.3(POLG):c.543G>A (p.Glu181=)5428POLGUncertain significance773882973RCV001920362; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898764438987644389876443-
NM_002693.3(POLG):c.542A>C (p.Glu181Ala)5428POLGUncertain significance761349383RCV001891545; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898764448987644489876444-
NM_002693.3(POLG):c.538C>T (p.Pro180Ser)5428POLGUncertain significance1567193954RCV000758481; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987644889876448NC_000015.9:g.89876448G>A-
NM_002693.3(POLG):c.536G>T (p.Gly179Val)5428POLGUncertain significance-1RCV002303895; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898764508987645089876450-
NM_002693.3(POLG):c.534C>T (p.Tyr178=)5428POLGLikely benign766962517RCV002545896; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898764528987645215:g.89876452G>A-
NM_002693.3(POLG):c.528C>T (p.Thr176=)5428POLGLikely benign750915606RCV000758392; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987645889876458NC_000015.9:g.89876458G>A-
NM_002693.3(POLG):c.514_525del (p.Ala172_Trp175del)5428POLGUncertain significance-1RCV003055926; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987646189876472NC_000015.9:g.89876465_89876476del-
NM_002693.3(POLG):c.522C>G (p.Gly174=)5428POLGConflicting interpretations of pathogenicity766842881RCV000598054|RCV001848983|RCV002341525|RCV002532480; NMedGen:CN517202|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898764648987646415:g.89876464G>CClinGen:CA7725103CN169374 not specified;
NM_002693.3(POLG):c.519G>A (p.Glu173=)5428POLGLikely benign-1RCV002908077; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987646789876467-
NM_002693.3(POLG):c.516G>A (p.Ala172=)5428POLGLikely benign1028326668RCV000758391; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987647089876470NC_000015.9:g.89876470C>T-
NM_002693.3(POLG):c.510_515dup (p.169WA[3])5428POLGUncertain significance2141814680RCV002050928; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898764708987647189876470-
NM_002693.3(POLG):c.501G>A (p.Pro167=)5428POLGConflicting interpretations of pathogenicity886044612RCV000362221|RCV002061144; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898764858987648515:g.89876485C>TClinGen:CA10606974CN169374 not specified;
NM_002693.3(POLG):c.501G>C (p.Pro167=)5428POLGLikely benign-1RCV002861269; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987648589876485-
NM_002693.3(POLG):c.500C>T (p.Pro167Leu)5428POLGUncertain significance1424057005RCV002027712; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898764868987648689876486-
NM_002693.3(POLG):c.497C>T (p.Pro166Leu)5428POLGUncertain significance-1RCV002839401; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987648989876489NC_000015.9:g.89876489G>A-
NM_002693.3(POLG):c.491C>T (p.Pro164Leu)5428POLGUncertain significance1169437119RCV001248079; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898764958987649515:g.89876495G>A-
NM_002693.3(POLG):c.490C>G (p.Pro164Ala)5428POLGUncertain significance779208296RCV001588541|RCV002579489; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898764968987649689876496-
NM_002693.3(POLG):c.490C>A (p.Pro164Thr)5428POLGUncertain significance-1RCV002834613; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987649689876496NC_000015.9:g.89876496G>T-
NM_002693.3(POLG):c.489C>T (p.Pro163=)5428POLGLikely benign1057520491RCV000436305|RCV002524822; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898764978987649715:g.89876497G>AClinGen:CA16607920CN169374 not specified;
NM_002693.3(POLG):c.488C>T (p.Pro163Leu)5428POLGUncertain significance752892262RCV000188636|RCV000633534|RCV002336499; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898764988987649815:g.89876498G>AClinGen:CA316802CN517202 not provided;
NM_002693.3(POLG):c.487C>T (p.Pro163Ser)5428POLGUncertain significance758454871RCV000712810|RCV000808609|RCV003323697; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374158987649989876499NC_000015.9:g.89876499G>A-
NM_002693.3(POLG):c.484C>T (p.Leu162=)5428POLGConflicting interpretations of pathogenicity375445567RCV000867916|RCV001692304|RCV001847075; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:68515898765028987650215:g.89876502G>A-
NM_002693.3(POLG):c.482A>G (p.Gln161Arg)5428POLGUncertain significance2141814756RCV001916927; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898765048987650489876504-
NM_002693.3(POLG):c.475C>G (p.Gln159Glu)5428POLGUncertain significance1487941216RCV001955876; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898765118987651189876511-
NM_002693.3(POLG):c.471G>C (p.Leu157=)5428POLGLikely benign745813477RCV001442318; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898765158987651589876515-
NM_002693.3(POLG):c.468G>A (p.Leu156=)5428POLGConflicting interpretations of pathogenicity1567194019RCV000731067|RCV002535187; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987651889876518NC_000015.9:g.89876518C>T-
NM_002693.3(POLG):c.460G>A (p.Ala154Thr)5428POLGUncertain significance753858440RCV000188635|RCV000661980|RCV000661981|RCV000692834|RCV002317147; NMedGen:C3661900|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041, Orphanet:298|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123158987652689876526NC_000015.9:g.89876526C>TClinGen:CA316800C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.3(POLG):c.453G>A (p.Leu151=)5428POLGConflicting interpretations of pathogenicity779981823RCV000712809|RCV001050958; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987653389876533NC_000015.9:g.89876533C>T-
NM_002693.3(POLG):c.452T>C (p.Leu151Pro)5428POLGUncertain significance749018627RCV000355004|RCV001323533|RCV001848661; NMedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685158987653489876534NC_000015.9:g.89876534A>GClinGen:CA7725111CN239393 POLG-Related Spectrum Disorders;
NM_002693.3(POLG):c.449A>G (p.Tyr150Cys)5428POLGUncertain significance2055620034RCV001225024; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898765378987653715:g.89876537T>C-
NM_002693.3(POLG):c.449A>T (p.Tyr150Phe)5428POLGUncertain significance-1RCV003448816; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987653789876537-
NM_002693.3(POLG):c.444G>T (p.Leu148=)5428POLGLikely benign2141814828RCV002195992; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898765428987654289876542-
NM_002693.3(POLG):c.441C>T (p.Ser147=)5428POLGLikely benign2141814842RCV001993162; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898765458987654589876545-
NM_002693.3(POLG):c.439A>T (p.Ser147Cys)5428POLGUncertain significance-1RCV002811817; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987654789876547NC_000015.9:g.89876547T>A-
NM_002693.3(POLG):c.435G>A (p.Lys145=)5428POLGLikely benign2141814859RCV001439790; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898765518987655189876551-
NM_002693.3(POLG):c.431A>G (p.Gln144Arg)5428POLGUncertain significance1056580076RCV000758339|RCV002312323|RCV001838125|RCV002499301; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|6 conditions158987655589876555NC_000015.9:g.89876555T>C-
NM_002693.3(POLG):c.430C>G (p.Gln144Glu)5428POLGUncertain significance2141814867RCV001915210; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898765568987655689876556-
NM_002693.3(POLG):c.428C>T (p.Ala143Val)5428POLGConflicting interpretations of pathogenicity796052899RCV000758269|RCV000779176|RCV000995420|RCV002288792; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MedGen:C3661900|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595158987655889876558NC_000015.9:g.89876558G>A-
NM_002693.3(POLG):c.418C>T (p.Arg140Cys)5428POLGUncertain significance761248036RCV000703722|RCV000728691|RCV003407688; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|158987656889876568NC_000015.9:g.89876568G>AClinGen:CA316881CN169374 not specified;
NM_002693.3(POLG):c.416T>G (p.Phe139Cys)5428POLGUncertain significance2141814897RCV002032272; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898765708987657089876570-
NM_002693.3(POLG):c.414C>T (p.His138=)5428POLGLikely benign916364510RCV002197681; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898765728987657289876572-
NM_002693.3(POLG):c.414C>G (p.His138Gln)5428POLGUncertain significance-1RCV002856390; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987657289876572NC_000015.9:g.89876572G>C-
NM_002693.3(POLG):c.413A>C (p.His138Pro)5428POLGUncertain significance766932926RCV001234423; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898765738987657315:g.89876573T>G-
NM_002693.3(POLG):c.411G>A (p.Gln137=)5428POLGLikely benign-1RCV003121104; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987657589876575-
NM_002693.3(POLG):c.410A>G (p.Gln137Arg)5428POLGUncertain significance-1RCV002829795; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987657689876576NC_000015.9:g.89876576T>C-
NM_002693.3(POLG):c.408C>G (p.Asp136Glu)5428POLGConflicting interpretations of pathogenicity115109291RCV000514076|RCV000758561|RCV002321762; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123158987657889876578NC_000015.9:g.89876578G>CClinGen:CA316796CN517202 not provided;
NM_002693.3(POLG):c.402C>G (p.Asn134Lys)5428POLGUncertain significance759939229RCV001241075|RCV002499399|RCV003328664; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MedGen:CN51720215898765848987658415:g.89876584G>C-
NM_002693.3(POLG):c.401A>G (p.Asn134Ser)5428POLGUncertain significance765542094RCV001320882|RCV001726487; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898765858987658589876585-
NM_002693.3(POLG):c.401A>T (p.Asn134Ile)5428POLGUncertain significance-1RCV002575580; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987658589876585NC_000015.9:g.89876585T>A-
NM_002693.3(POLG):c.398A>G (p.Asp133Gly)5428POLGUncertain significance540905618RCV000524560|RCV001311062; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158987658889876588NC_000015.9:g.89876588T>CClinGen:CA7725120C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.396G>A (p.Gly132=)5428POLGLikely benign-1RCV002815154; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987659089876590-
NM_002693.3(POLG):c.395G>A (p.Gly132Glu)5428POLGUncertain significance1060500774RCV000466430|RCV000658267; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158987659189876591NC_000015.9:g.89876591C>TClinGen:CA16614589CN517202 not provided;
NM_002693.3(POLG):c.394G>A (p.Gly132Arg)5428POLGUncertain significance-1RCV002886619|RCV003230756; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374158987659289876592NC_000015.9:g.89876592C>T-
NM_002693.3(POLG):c.391T>C (p.Tyr131His)5428POLGConflicting interpretations of pathogenicity562847013RCV000469850|RCV000578205|RCV000726559|RCV001116622|RCV001252352|RCV002321761; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041, Orphanet:35698; MONDO:MONDO:0000451,MedGen:C0751964|MedGen:C3661900|MedGen:C4763519|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontolog158987659589876595NC_000015.9:g.89876595A>GClinGen:CA316634C0342782 Mitochondrial DNA depletion syndrome;
NM_002693.3(POLG):c.390C>T (p.Leu130=)5428POLGLikely benign1214539830RCV001455797; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898765968987659689876596-
NM_002693.3(POLG):c.388C>T (p.Leu130Phe)5428POLGUncertain significance201261842RCV000706965|RCV000712807; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900158987659889876598NC_000015.9:g.89876598G>A-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.386C>T (p.Pro129Leu)5428POLGUncertain significance-1RCV003448815; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987660089876600-
NM_002693.3(POLG):c.384G>T (p.Pro128=)5428POLGLikely benign558958919RCV000427763|RCV000758390; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766028987660215:g.89876602C>AClinGen:CA10602287CN169374 not specified;
NM_002693.3(POLG):c.384G>C (p.Pro128=)5428POLGLikely benign558958919RCV002128102; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766028987660289876602-
NM_002693.3(POLG):c.381G>T (p.Leu127=)5428POLGConflicting interpretations of pathogenicity1057524724RCV000430052|RCV001532267|RCV002522712; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766058987660515:g.89876605C>AClinGen:CA16607929CN169374 not specified;
NM_002693.3(POLG):c.379C>T (p.Leu127=)5428POLGLikely benign-1RCV003071982; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987660789876607-
NM_002693.3(POLG):c.378C>G (p.Arg126=)5428POLGLikely benign754748773RCV001493409; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766088987660815:g.89876608G>C-
NM_002693.3(POLG):c.372G>T (p.Glu124Asp)5428POLGUncertain significance1036577228RCV001999231|RCV002464507; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898766148987661489876614-
NM_002693.3(POLG):c.371A>T (p.Glu124Val)5428POLGUncertain significance1418568120RCV001873982; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766158987661589876615-
NM_002693.3(POLG):c.367G>C (p.Val123Leu)5428POLGUncertain significance2055621640RCV001926541; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766198987661989876619-
NM_002693.3(POLG):c.366C>T (p.Asp122=)5428POLGLikely benign-1RCV002968001; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987662089876620-
NM_002693.3(POLG):c.364G>T (p.Asp122Tyr)5428POLGUncertain significance2055621716RCV001298243; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766228987662289876622-
NM_002693.3(POLG):c.363C>G (p.Pro121=)5428POLGLikely benign2055621743RCV002081615; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766238987662389876623-
NM_002693.3(POLG):c.360G>T (p.Leu120Phe)5428POLGUncertain significance886043905RCV000376637|RCV000693003; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766268987662615:g.89876626C>AClinGen:CA10606097CN169374 not specified;
NM_002693.3(POLG):c.355C>T (p.Pro119Ser)5428POLGUncertain significance1420577605RCV001768832|RCV001861087; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766318987663189876631-
NM_002693.3(POLG):c.352G>A (p.Val118Met)5428POLGUncertain significance778608349RCV001216751; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766348987663415:g.89876634C>T-
NM_002693.3(POLG):c.352G>T (p.Val118Leu)5428POLGUncertain significance-1RCV002829508; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987663489876634NC_000015.9:g.89876634C>A-
NM_002693.3(POLG):c.347C>A (p.Pro116Gln)5428POLGUncertain significance747828222RCV000591987|RCV002531048; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766398987663915:g.89876639G>TClinGen:CA393772461CN169374 not specified;
NM_002693.3(POLG):c.347C>G (p.Pro116Arg)5428POLGUncertain significance747828222RCV000758477; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987663989876639NC_000015.9:g.89876639G>C-
NM_002693.3(POLG):c.346C>T (p.Pro116Ser)5428POLGUncertain significance771676521RCV000188686|RCV001307238|RCV002500576; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions158987664089876640NC_000015.9:g.89876640G>AClinGen:CA316879CN169374 not specified;
NM_002693.3(POLG):c.346C>A (p.Pro116Thr)5428POLGUncertain significance771676521RCV001876598; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766408987664089876640-
NM_002693.3(POLG):c.340G>A (p.Gly114Arg)5428POLGUncertain significance-1RCV003095689; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987664689876646NC_000015.9:g.89876646C>T-
NM_002693.3(POLG):c.337T>A (p.Trp113Arg)5428POLGUncertain significance746450616RCV001979552; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766498987664989876649-
NM_002693.3(POLG):c.333G>T (p.Gly111=)5428POLGLikely benign56221189RCV000460499|RCV000616864; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374158987665389876653NC_000015.9:g.89876653C>AClinGen:CA16614590CN169374 not specified;
NM_002693.3(POLG):c.331G>C (p.Gly111Arg)5428POLGUncertain significance760170099RCV000995421|RCV002067611|RCV001858812|RCV002479171; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; M15898766558987665515:g.89876655C>G-
NM_002693.3(POLG):c.330C>T (p.His110=)5428POLGConflicting interpretations of pathogenicity376266682RCV000540376|RCV000591767; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158987665689876656NC_000015.9:g.89876656G>AClinGen:CA274566083CN169374 not specified;
NM_002693.3(POLG):c.328C>T (p.His110Tyr)5428POLGConflicting interpretations of pathogenicity139599587RCV000461638|RCV000727081|RCV000768048|RCV001804925|RCV002317148; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MON158987665889876658NC_000015.9:g.89876658G>AClinGen:CA316877CN169374 not specified;
NM_002693.3(POLG):c.327G>T (p.Lys109Asn)5428POLGUncertain significance2055622519RCV001987683; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766598987665989876659-
NM_002693.3(POLG):c.325A>G (p.Lys109Glu)5428POLGUncertain significance368137494RCV001308603; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766618987666189876661-
NM_002693.3(POLG):c.322C>G (p.Gln108Glu)5428POLGUncertain significance931281951RCV002041515; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766648987666489876664-
NM_002693.3(POLG):c.319C>T (p.Leu107=)5428POLGLikely benign1440493081RCV001410123|RCV001692380; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898766678987666789876667-
NM_002693.3(POLG):c.318C>T (p.His106=)5428POLGLikely benign-1RCV003013587; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987666889876668-
NM_002693.3(POLG):c.315G>A (p.Glu105=)5428POLGLikely benign1411980838RCV001495568; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766718987667189876671-
NM_002693.3(POLG):c.313G>C (p.Glu105Gln)5428POLGUncertain significance1049712904RCV001966717; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766738987667389876673-
NM_002693.3(POLG):c.306C>T (p.Arg102=)5428POLGLikely benign-1RCV003023946; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987668089876680-
NM_002693.3(POLG):c.304C>A (p.Arg102Ser)5428POLGUncertain significance1328607569RCV001214351; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766828987668215:g.89876682G>T-
NM_002693.3(POLG):c.304C>T (p.Arg102Cys)5428POLGUncertain significance1328607569RCV001318721; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766828987668289876682-
NM_002693.3(POLG):c.300G>T (p.Val100=)5428POLGLikely benign2141815244RCV002075273; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766868987668689876686-
NM_002693.3(POLG):c.297G>A (p.Ala99=)5428POLGLikely benign953515097RCV000981405; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766898987668915:g.89876689C>T-
NM_002693.3(POLG):c.288C>G (p.Gly96=)5428POLGLikely benign149324249RCV002118897; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898766988987669889876698-
NM_002693.3(POLG):c.282G>A (p.Met94Ile)5428POLGUncertain significance753739487RCV000812963; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767048987670415:g.89876704C>T-
NM_002693.3(POLG):c.282G>T (p.Met94Ile)5428POLGUncertain significance753739487RCV001247831; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767048987670415:g.89876704C>A-
NM_002693.3(POLG):c.280A>T (p.Met94Leu)5428POLGUncertain significance778753625RCV002023700; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767068987670689876706-
NM_002693.3(POLG):c.279G>A (p.Glu93=)5428POLGLikely benign1367245840RCV002081764; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767078987670789876707-
NM_002693.3(POLG):c.274G>C (p.Gly92Arg)5428POLGUncertain significance747837325RCV001307022; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767128987671289876712-
NM_002693.3(POLG):c.274G>A (p.Gly92Arg)5428POLGUncertain significance-1RCV003070304; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987671289876712NC_000015.9:g.89876712C>T-
NM_002693.3(POLG):c.264C>T (p.Phe88=)5428POLGConflicting interpretations of pathogenicity144439703RCV000118014|RCV000227341|RCV000436920|RCV001116623|RCV001847711|RCV002313915; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MedGen:C4763519|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C095012315898767228987672215:g.89876722G>AClinGen:CA288984CN517202 not provided;
NM_002693.3(POLG):c.264C>G (p.Phe88Leu)5428POLGConflicting interpretations of pathogenicity144439703RCV000431950|RCV000693072; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767228987672215:g.89876722G>CClinGen:CA7725145CN517202 not provided;
NM_002693.3(POLG):c.261C>A (p.Ile87=)5428POLGLikely benign770543008RCV002105604; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767258987672589876725-
NM_002693.3(POLG):c.260T>C (p.Ile87Thr)5428POLGUncertain significance776347449RCV000709970|RCV001861947|RCV002311993; NMONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298; MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0011835158987672689876726NC_000015.9:g.89876726A>G-
NM_002693.3(POLG):c.257A>C (p.Gln86Pro)5428POLGUncertain significance-1RCV003045588; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987672989876729NC_000015.9:g.89876729T>G-
NM_002693.3(POLG):c.256C>G (p.Gln86Glu)5428POLGUncertain significance2141815363RCV001905077; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767308987673089876730-
NM_002693.3(POLG):c.255G>A (p.Glu85=)5428POLGLikely benign1332983041RCV001464632; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767318987673189876731-
NM_002693.3(POLG):c.249G>C (p.Leu83=)5428POLGLikely benign-1RCV003043599; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987673789876737-
NM_002693.3(POLG):c.246G>T (p.Gly82=)5428POLGLikely benign-1RCV002583216; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987674089876740-
NM_002693.3(POLG):c.244G>A (p.Gly82Arg)5428POLGUncertain significance139134661RCV001984233; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767428987674289876742-
NM_002693.3(POLG):c.244G>T (p.Gly82Trp)5428POLGUncertain significance139134661RCV001887588; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767428987674289876742-
NM_002693.3(POLG):c.241A>G (p.Arg81Gly)5428POLGUncertain significance764544892RCV001314900; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767458987674589876745-
NM_002693.3(POLG):c.240G>T (p.Ser80=)5428POLGLikely benign2141815443RCV002202635; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767468987674689876746-
NM_002693.3(POLG):c.237C>T (p.Leu79=)5428POLGLikely benign774537232RCV001412985; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987674989876749NC_000015.9:g.89876749G>AClinGen:CA7725153C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.231G>C (p.Gln77His)5428POLGUncertain significance-1RCV002298381; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767558987675589876755-
NM_002693.3(POLG):c.231G>T (p.Gln77His)5428POLGUncertain significance-1RCV002814667; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987675589876755NC_000015.9:g.89876755C>A-
NM_002693.3(POLG):c.222G>A (p.Leu74=)5428POLGLikely benign758077958RCV001407272; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767648987676489876764-
NM_002693.3(POLG):c.220T>C (p.Leu74=)5428POLGLikely benign1241802528RCV001698052|RCV002528703; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767668987676615:g.89876766A>GClinGen:CA492290043CN169374 not specified;
NM_002693.3(POLG):c.211C>T (p.His71Tyr)5428POLGUncertain significance-1RCV003019492; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987677589876775NC_000015.9:g.89876775G>A-
NM_002693.3(POLG):c.210G>T (p.Arg70=)5428POLGBenign/Likely benign751225754RCV000758513|RCV000920565; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158987677689876776NC_000015.9:g.89876776C>A-
NM_002693.3(POLG):c.210G>C (p.Arg70=)5428POLGLikely benign751225754RCV001954079; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767768987677689876776-
NM_002693.3(POLG):c.209G>A (p.Arg70Gln)5428POLGUncertain significance1031558097RCV001934834; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767778987677789876777-
NM_002693.3(POLG):c.203A>T (p.Gln68Leu)5428POLGUncertain significance1171419088RCV001863391; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767838987678389876783-
NM_002693.3(POLG):c.200G>C (p.Gly67Ala)5428POLGUncertain significance1399456619RCV001370598|RCV002488166; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898767868987678689876786-
NM_002693.3(POLG):c.199G>A (p.Gly67Arg)5428POLGUncertain significance1415744247RCV001322797; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767878987678789876787-
NM_002693.3(POLG):c.199G>C (p.Gly67Arg)5428POLGUncertain significance-1RCV002913794; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987678789876787NC_000015.9:g.89876787C>G-
NM_002693.3(POLG):c.191C>G (p.Ser64Trp)5428POLGUncertain significance1397887879RCV000758444; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987679589876795NC_000015.9:g.89876795G>C-
NM_002693.3(POLG):c.189_191del (p.Ser64del)5428POLGUncertain significance2141815620RCV001909792; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767958987679789876794-
NM_002693.3(POLG):c.191C>T (p.Ser64Leu)5428POLGUncertain significance-1RCV003100461; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987679589876795NC_000015.9:g.89876795G>A-
NM_002693.3(POLG):c.188C>T (p.Ser63Phe)5428POLGUncertain significance960812250RCV002008375; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898767988987679889876798-
NM_002693.3(POLG):c.187T>C (p.Ser63Pro)5428POLGUncertain significance781006710RCV001362584|RCV001509501; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898767998987679989876799-
NM_002693.3(POLG):c.186A>G (p.Leu62=)5428POLGConflicting interpretations of pathogenicity745310138RCV000726830|RCV000758358; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768008987680015:g.89876800T>CClinGen:CA7725165CN169374 not specified;
NM_002693.3(POLG):c.184C>T (p.Leu62=)5428POLGLikely benign144033465RCV000866855|RCV002064547; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768028987680215:g.89876802G>A-
NM_002693.3(POLG):c.183G>T (p.Val61=)5428POLGLikely benign-1RCV002612313; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987680389876803-
NM_002693.3(POLG):c.179A>C (p.Gln60Pro)5428POLGUncertain significance-1RCV003032953; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987680789876807NC_000015.9:g.89876807T>G-
NM_002693.3(POLG):c.178C>A (p.Gln60Lys)5428POLGUncertain significance780379693RCV001235892; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768088987680815:g.89876808G>T-
NM_002693.3(POLG):c.177G>T (p.Pro59=)5428POLGLikely benign372383277RCV000868801|RCV001440738; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768098987680915:g.89876809C>AClinGen:CA7725169CN169374 not specified;
NM_002693.3(POLG):c.168_176dup (p.55QPQ[3])5428POLGUncertain significance771937417RCV001212583; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768098987681015:g.89876809_89876810insGGCTGCTGA-
NM_002693.3(POLG):c.177G>C (p.Pro59=)5428POLGLikely benign372383277RCV002078774; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768098987680989876809-
NM_002693.3(POLG):c.159_167dup (p.55QPQ[3])5428POLGLikely benign776709929RCV000931146; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768188987681915:g.89876818_89876819insGGCTGCTGT-
NM_002693.3(POLG):c.167C>G (p.Pro56Arg)5428POLGUncertain significance1022612492RCV000530802; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987681989876819NC_000015.9:g.89876819G>CClinGen:CA393773955C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.158_166dup (p.Gln53_Gln55dup)5428POLGLikely benign769735492RCV000633556|RCV001572551; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898768198987682015:g.89876819_89876820insGCTGCTGTTClinGen:CA7725174C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.143_166dup (p.Gln48_Gln55dup)5428POLGLikely benign1555454325RCV000633560; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768198987682015:g.89876819_89876820insGCTGCTGTTGCTGCTGCTGCTGCTClinGen:CA7725172C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.149_166dup (p.Gln50_Gln55dup)5428POLGUncertain significance773536141RCV001350359; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768198987682089876819-
NM_002693.3(POLG):c.161AGC[3] (p.Gln55_Pro56insGln)5428POLGUncertain significance-1RCV003108957; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987681989876820NC_000015.9:g.89876821CTG[3]-
NM_002693.3(POLG):c.167C>T (p.Pro56Leu)5428POLGUncertain significance-1RCV002658015; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987681989876819NC_000015.9:g.89876819G>A-
NM_002693.3(POLG):c.161AGC[4] (p.Gln55_Pro56insGlnGln)5428POLGUncertain significance-1RCV002847224; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987681989876820NC_000015.9:g.89876821CTG[4]-
NM_002693.3(POLG):c.146_166dup (p.Gln55_Pro56insGlnGlnGlnGlnGlnGlnGln)5428POLGUncertain significance-1RCV002996880; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987681989876820NC_000015.9:g.89876827_89876847dup-
NM_002693.3(POLG):c.155_166del (p.Gln52_Gln55del)5428POLGConflicting interpretations of pathogenicity761909257RCV000188536|RCV000726981|RCV002054220; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987682089876831NC_000015.9:g.89876827_89876838delClinGen:CA316625CN169374 not specified;
NM_002693.3(POLG):c.158_166del (p.Gln53_Gln55del)5428POLGConflicting interpretations of pathogenicity769735492RCV000597328|RCV000633570|RCV001081529|RCV002404611; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898768208987682815:g.89876820_89876828delClinGen:CA7725171CN169374 not specified;
NM_002693.3(POLG):c.143_166del (p.Gln48_Gln55del)5428POLGUncertain significance-1RCV003047433; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987682089876843NC_000015.9:g.89876827_89876850del-
NM_002693.3(POLG):c.159_164dup (p.Gln54_Gln55dup)5428POLGConflicting interpretations of pathogenicity760135553RCV000870468|RCV001722389; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898768218987682215:g.89876821_89876822insTGCTGTClinGen:CA7725176CN169374 not specified;
NM_002693.3(POLG):c.162G>A (p.Gln54=)5428POLGUncertain significance796052878RCV000188537|RCV001753587|RCV002054221; NMedGen:CN169374|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987682489876824NC_000015.9:g.89876824C>TClinGen:CA316626CN169374 not specified;
NM_002693.3(POLG):c.159_161dup (p.Gln55dup)5428POLGLikely benign768088414RCV000188533|RCV000876734|RCV001492580; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987682489876825NC_000015.9:g.89876827_89876829dupClinGen:CA316620CN169374 not specified;
NM_002693.3(POLG):c.159A>G (p.Gln53=)5428POLGBenign/Likely benign587781118RCV000127542|RCV000676328|RCV000758507; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987682789876827NC_000015.9:g.89876827T>CClinGen:CA292850CN517202 not provided;
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)5428POLGBenign/Likely benign41550117RCV000153756|RCV000676330|RCV000714693|RCV000758545|RCV001847785|RCV002312681|RCV002492575; NMedGen:CN169374|MedGen:C3661900|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123|6 conditions15898768278987682815:g.89876827_89876828insTGCClinGen:CA295634CN517202 not provided;
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup)5428POLGBenign/Likely benign41550117RCV000188534|RCV000226737|RCV000514102|RCV001847827|RCV002311278; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123158987682789876828NC_000015.9:g.89876828TGC[13]ClinGen:CA316621CN517202 not provided;
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup)5428POLGBenign/Likely benign41550117RCV000188532|RCV000224549|RCV001080808|RCV002311277|RCV002492867; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|6 conditions158987682789876828NC_000015.9:g.89876828TGC[14]ClinGen:CA316618CN517202 not provided;
NM_002693.3(POLG):c.158_159insGCAGCAACA (p.Gln53_Gln55dup)5428POLGLikely benign1555454333RCV000481163|RCV002056761; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768278987682815:g.89876827_89876828insTGTTGCTGCClinGen:CA16620027CN169374 not specified;
NM_002693.3(POLG):c.126GCA[16] (p.Gln51_Gln55dup)5428POLGConflicting interpretations of pathogenicity41550117RCV000540524|RCV001721552|RCV002395144; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C095012315898768278987682815:g.89876827_89876828insTGCTGCTGCTGCTGCClinGen:CA16620028CN169374 not specified;
NM_002693.3(POLG):c.126GCA[15] (p.Gln52_Gln55dup)5428POLGLikely benign41550117RCV000548452|RCV000610037|RCV001722463|RCV002395317; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C095012315898768278987682815:g.89876827_89876828insTGCTGCTGCTGCClinGen:CA658658323CN169374 not specified;
NM_002693.3(POLG):c.126GCA[17] (p.Gln50_Gln55dup)5428POLGConflicting interpretations of pathogenicity41550117RCV001697437|RCV001854151; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987682789876828NC_000015.9:g.89876828TGC[17]ClinGen:CA658798420CN169374 not specified;
NM_002693.3(POLG):c.159A>T (p.Gln53His)5428POLGUncertain significance587781118RCV000758287; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987682789876827NC_000015.9:g.89876827T>A-
NM_002693.3(POLG):c.159delinsGCAACAGCAGCCT (p.Gln55_Pro56insGlnProGlnGln)5428POLGUncertain significance1596362608RCV000803049; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768278987682715:g.89876827_89876828insGGCTGCTGTTGC-
NM_002693.3(POLG):c.158_159insGCAACAGCA (p.Gln53_Gln55dup)5428POLGLikely benign1555454334RCV001466754; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768278987682815:g.89876827_89876828insTGCTGTTGC-
NM_002693.3(POLG):c.158_159insGCAACA (p.Gln54_Gln55dup)5428POLGUncertain significance1555454333RCV001296418; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768278987682889876827-
NM_002693.3(POLG):c.126GCA[18] (p.Gln49_Gln55dup)5428POLGConflicting interpretations of pathogenicity41550117RCV001325943|RCV002384437; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C095012315898768278987682889876827-
NM_002693.3(POLG):c.126GCA[20] (p.Gln47_Gln55dup)5428POLGUncertain significance41550117RCV001324718; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768278987682889876827-
NM_002693.3(POLG):c.126GCA[21] (p.Gln46_Gln55dup)5428POLGUncertain significance41550117RCV002030210; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768278987682889876827-
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del)5428POLGBenign/Likely benign41550117RCV000153755|RCV000462442|RCV000676329|RCV001847784|RCV002312999; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C095012315898768288987683015:g.89876828_89876830delClinGen:CA295632CN517202 not provided;
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del)5428POLGBenign/Likely benign41550117RCV000153757|RCV000676331|RCV001080820|RCV002312682|RCV002492576; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|6 conditions15898768288987683315:g.89876828_89876833delClinGen:CA295636CN517202 not provided;
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del)5428POLGBenign/Likely benign41550117RCV000188531|RCV000456895|RCV001196416|RCV001572826|RCV001847826|RCV002317143|RCV002503744; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123|6 condi158987682889876836NC_000015.9:g.89876828TGC[8]ClinGen:CA316616CN169374 not specified;
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del)5428POLGBenign/Likely benign41550117RCV000188530|RCV000456165|RCV001200206|RCV001847825|RCV002317142; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123158987682889876839NC_000015.9:g.89876828TGC[7]ClinGen:CA316614CN169374 not specified;
NM_002693.3(POLG):c.126GCA[6] (p.Gln51_Gln55del)5428POLGBenign/Likely benign41550117RCV000188529|RCV000633535|RCV001795307|RCV002390496; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123158987682889876842NC_000015.9:g.89876828TGC[6]ClinGen:CA316612CN169374 not specified;
NM_002693.3(POLG):c.126GCA[5] (p.Gln50_Gln55del)5428POLGConflicting interpretations of pathogenicity41550117RCV000188528|RCV000230040|RCV002500575|RCV002514032|RCV003390916; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MeSH:D030342,MedGen:C0950123|158987682889876845NC_000015.9:g.89876828TGC[5]ClinGen:CA316610
NM_002693.3(POLG):c.126GCA[4] (p.Gln49_Gln55del)5428POLGConflicting interpretations of pathogenicity41550117RCV000374160|RCV001244117; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768288987684815:g.89876828_89876848delClinGen:CA10606382CN169374 not specified;
NM_002693.3(POLG):c.158A>C (p.Gln53Pro)5428POLGUncertain significance527965158RCV000758286; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987682889876828NC_000015.9:g.89876828T>G-
NM_002693.3(POLG):c.126GCA[1] (p.Gln46_Gln55del)5428POLGConflicting interpretations of pathogenicity41550117RCV000758544; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768288987685715:g.89876828_89876857del-
NM_002693.3(POLG):c.126GCA[3] (p.Gln48_Gln55del)5428POLGUncertain significance41550117RCV001532268|RCV001873775; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768288987685189876827-
NM_002693.3(POLG):c.156G>C (p.Gln52His)5428POLGUncertain significance587781117RCV001866118|RCV002405259|RCV001589368; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:C366190015898768308987683089876830-
NM_002693.3(POLG):c.155_156insTCA (p.Gln51_Gln52insHis)5428POLGUncertain significance573261648RCV001974141; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768308987683189876830-
NM_002693.3(POLG):c.154C>A (p.Gln52Lys)5428POLGConflicting interpretations of pathogenicity376683989RCV000758285|RCV000992680|RCV002399700|RCV003401027; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|15898768328987683215:g.89876832G>TClinGen:CA316623CN169374 not specified;
NM_002693.3(POLG):c.153G>A (p.Gln51=)5428POLGBenign/Likely benign1453538834RCV000676332|RCV000758501; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768338987683315:g.89876833C>T-CN517202 not provided;
NM_002693.3(POLG):c.152_153insACA (p.Gln55dup)5428POLGUncertain significance1466061893RCV001365007; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768338987683489876833-
NM_002693.3(POLG):c.152A>G (p.Gln51Arg)5428POLGUncertain significance1478709276RCV001372467; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768348987683489876834-
NM_002693.3(POLG):c.150G>A (p.Gln50=)5428POLGBenign/Likely benign766501874RCV000758500|RCV000991337|RCV002392961; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C095012315898768368987683615:g.89876836C>TClinGen:CA7725184CN169374 not specified;
NM_002693.3(POLG):c.148C>A (p.Gln50Lys)5428POLGUncertain significance752556685RCV001313758; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768388987683889876838-
NM_002693.3(POLG):c.125_145dup (p.Arg42_Gln48dup)5428POLGUncertain significance758359050RCV001952931; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768408987684189876840-
NM_002693.3(POLG):c.145C>G (p.Gln49Glu)5428POLGBenign200132079RCV001523583; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768418987684189876841-
NM_002693.3(POLG):c.125_145del (p.Arg42_Gln48del)5428POLGUncertain significance-1RCV002633647; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987684189876861NC_000015.9:g.89876843_89876863del-
NM_002693.3(POLG):c.143_144insCCAGCA (p.Gln47_Gln48insHisGln)5428POLGUncertain significance2055627759RCV001305824|RCV001576924; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898768428987684389876842-
NM_002693.3(POLG):c.143A>G (p.Gln48Arg)5428POLGUncertain significance2141816053RCV001984925; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768438987684389876843-
NM_002693.3(POLG):c.140_141insACA (p.Gln55dup)5428POLGUncertain significance1397675423RCV001964294; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768458987684689876845-
NM_002693.2(POLG):c.125_139dup5428POLGConflicting interpretations of pathogenicity780010436RCV000483092|RCV000758435|RCV002473023|RCV002526608; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MeSH:D030342,MedGen:C0950123158987684689876847NC_000015.9:g.89876849_89876863dupClinGen:CA10602183CN169374 not specified;
NM_002693.3(POLG):c.125_139del (p.Arg42_Gln46del)5428POLGUncertain significance780010436RCV000705186|RCV000727691; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898768478987686115:g.89876847_89876861del-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.137A>G (p.Gln46Arg)5428POLGConflicting interpretations of pathogenicity1555454339RCV000596845|RCV000758405; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768498987684915:g.89876849T>CClinGen:CA10602190CN169374 not specified;
NM_002693.3(POLG):c.134_137delinsG (p.Gln45_Gln46delinsArg)5428POLGUncertain significance1567194455RCV000704124; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768498987685215:g.89876850_89876852del-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.136_137insGGCAGCAGCAGCAGC (p.Gln45_Gln46insArgGlnGlnGlnGln)5428POLGUncertain significance2055628450RCV001218732; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768498987685015:g.89876849_89876850insGCTGCTGCTGCTGCC-
NM_002693.3(POLG):c.136_137insGGCAGCGGCGGCGGCAGCAGCAGCAGCAGC (p.Gln45_Gln46insArgGlnArgArgArgGlnGlnG5428POLGUncertain significance2055628450RCV001313839; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768498987685089876849-
NM_002693.3(POLG):c.136_137insGGCGGCGGCAGCAGC (p.Gln45_Gln46insArgArgArgGlnGln)5428POLGUncertain significance2141816159RCV002043581; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768498987685089876849-
NM_002693.3(POLG):c.134A>G (p.Gln45Arg)5428POLGBenign/Likely benign201016638RCV000175733|RCV000461738|RCV001711597|RCV002314611; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C095012315898768528987685215:g.89876852T>CClinGen:CA302810CN169374 not specified;
NM_002693.3(POLG):c.133_134insGGC (p.Gln44_Gln45insArg)5428POLGLikely benign1567194472RCV000758438; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987685289876853NC_000015.9:g.89876854_89876855insCGC-
NM_002693.3(POLG):c.133_134insGGCAGCGGCGGCGGC (p.Gln44_Gln45insArgGlnArgArgArg)5428POLGUncertain significance1567194472RCV001884026; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768528987685389876852-
NM_002693.3(POLG):c.119_133del (p.Arg40_Gln44del)5428POLGUncertain significance-1RCV002635787; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987685389876867NC_000015.9:g.89876858_89876872del-
NM_002693.3(POLG):c.125_133del (p.Arg42_Gln44del)5428POLGUncertain significance-1RCV002867208; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987685389876861NC_000015.9:g.89876855_89876863del-
NM_002693.3(POLG):c.132G>A (p.Gln44=)5428POLGLikely benign1596362738RCV000933617; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768548987685415:g.89876854C>T-
NM_002693.3(POLG):c.132G>T (p.Gln44His)5428POLGUncertain significance1596362738RCV001912423; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768548987685489876854-
NM_002693.3(POLG):c.131A>G (p.Gln44Arg)5428POLGConflicting interpretations of pathogenicity757120802RCV000551143|RCV000724683|RCV002381572|RCV003416076; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|15898768558987685515:g.89876855T>CClinGen:CA241477CN169374 not specified;
NM_002693.3(POLG):c.130_131insGGC (p.Gln43_Gln44insArg)5428POLGUncertain significance1555454345RCV001918803; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768558987685689876855-
NM_002693.3(POLG):c.119_130del (p.Arg40_Gln43del)5428POLGUncertain significance1274859892RCV001948153; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768568987686789876855-
NM_002693.3(POLG):c.129G>A (p.Gln43=)5428POLGConflicting interpretations of pathogenicity570989155RCV000733088|RCV001398848; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987685789876857NC_000015.9:g.89876857C>T-
NM_002693.3(POLG):c.128A>G (p.Gln43Arg)5428POLGBenign28567406RCV000118010|RCV000461596|RCV000676333|RCV001116624|RCV001847709|RCV002312228; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MedGen:C4763519|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C095012315898768588987685815:g.89876858T>CClinGen:CA288980CN517202 not provided;
NM_002693.3(POLG):c.119GGC[4] (p.Arg42dup)5428POLGConflicting interpretations of pathogenicity761080016RCV000224767|RCV001088279|RCV001848849; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685158987685889876859NC_000015.9:g.89876861CGC[4]ClinGen:CA7725200CN517202 not provided;
NM_002693.3(POLG):c.119GGC[5] (p.Arg41_Arg42dup)5428POLGUncertain significance761080016RCV001057269; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768588987685915:g.89876858_89876859insGCCGCC-
NM_002693.3(POLG):c.127_128insGGCAGC (p.Arg42_Gln43insArgGln)5428POLGUncertain significance776122200RCV001351920|RCV003405587; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|15898768588987685989876858-
NM_002693.3(POLG):c.127_128insGGCGGCAGC (p.Arg42_Gln43insArgArgGln)5428POLGUncertain significance-1RCV003035089; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987685889876859NC_000015.9:g.89876860_89876861insTGCCGCCGC-
NM_002693.3(POLG):c.119GGC[1] (p.Arg41_Arg42del)5428POLGUncertain significance-1RCV003075315; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987685989876864NC_000015.9:g.89876861CGC[1]-
NM_002693.3(POLG):c.126G>A (p.Arg42=)5428POLGLikely benign1287086085RCV002205140; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768608987686089876860-
NM_002693.3(POLG):c.125G>A (p.Arg42Gln)5428POLGConflicting interpretations of pathogenicity74382477RCV000545670|RCV000676334|RCV001847824|RCV003401026; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|158987686189876861NC_000015.9:g.89876861C>TClinGen:CA316606CN517202 not provided;
NM_002693.3(POLG):c.119G>T (p.Arg40Leu)5428POLGUncertain significance200946722RCV001509502|RCV001865967; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768678987686789876867-
NM_002693.3(POLG):c.116_118del (p.Gln39del)5428POLGUncertain significance763663907RCV001916753|RCV003407953; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|15898768688987687089876867-
NM_002693.3(POLG):c.116A>G (p.Gln39Arg)5428POLGConflicting interpretations of pathogenicity749750052RCV000188523|RCV000723678|RCV001852486; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987687089876870NC_000015.9:g.89876870T>CClinGen:CA316602CN169374 not specified;
NM_002693.3(POLG):c.114G>T (p.Gly38=)5428POLGConflicting interpretations of pathogenicity794727268RCV000175729|RCV001852155|RCV002485137; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions15898768728987687215:g.89876872C>AClinGen:CA241473CN169374 not specified;
NM_002693.3(POLG):c.113G>A (p.Gly38Glu)5428POLGUncertain significance1403540142RCV001986546; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768738987687389876873-
NM_002693.3(POLG):c.112G>C (p.Gly38Arg)5428POLGUncertain significance866945104RCV000700618; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768748987687415:g.89876874C>G-C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.107G>C (p.Ser36Thr)5428POLGUncertain significance-1RCV002636359|RCV003222438; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158987687989876879NC_000015.9:g.89876879C>G-
NM_002693.3(POLG):c.104C>T (p.Pro35Leu)5428POLGUncertain significance769214289RCV001992950; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768828987688289876882-
NM_002693.3(POLG):c.96G>C (p.Ala32=)5428POLGLikely benign-1RCV002715014; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987689089876890-
NM_002693.3(POLG):c.93C>T (p.Pro31=)5428POLGLikely benign1242493308RCV001417200; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768938987689389876893-
NM_002693.3(POLG):c.93C>G (p.Pro31=)5428POLGLikely benign-1RCV002867030; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987689389876893-
NM_002693.3(POLG):c.88G>A (p.Val30Ile)5428POLGUncertain significance1321405180RCV000995422|RCV002290510|RCV002549911; NMedGen:C3661900|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898768988987689815:g.89876898C>T-
NM_002693.3(POLG):c.87C>T (p.Ser29=)5428POLGConflicting interpretations of pathogenicity587781116RCV000127532|RCV000861520|RCV001116626|RCV001288358|RCV001847752|RCV002371969; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123158987689989876899NC_000015.9:g.89876899G>AClinGen:CA292838CN169374 not specified;
NM_002693.3(POLG):c.87C>G (p.Ser29=)5428POLGLikely benign-1RCV002720280; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987689989876899-
NM_002693.3(POLG):c.86C>G (p.Ser29Cys)5428POLGUncertain significance796052895RCV000712811|RCV002485275|RCV002517883; NMedGen:CN517202|6 conditions|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987690089876900NC_000015.9:g.89876900G>CClinGen:CA316744CN169374 not specified;
NM_002693.3(POLG):c.82A>T (p.Ser28Cys)5428POLGLikely benign1567194544RCV000758487; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987690489876904NC_000015.9:g.89876904T>A-
NM_002693.3(POLG):c.76G>A (p.Val26Ile)5428POLGUncertain significance-1RCV002295072; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898769108987691089876910-
NM_002693.3(POLG):c.74G>T (p.Trp25Leu)5428POLGUncertain significance-1RCV002296789; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898769128987691289876912-
NM_002693.3(POLG):c.70C>T (p.Arg24Cys)5428POLGUncertain significance1196273210RCV000758484; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987691689876916NC_000015.9:g.89876916G>A-
NM_002693.3(POLG):c.70C>A (p.Arg24Ser)5428POLGUncertain significance1196273210RCV001219852; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898769168987691615:g.89876916G>T-
NM_002693.3(POLG):c.67G>A (p.Gly23Arg)5428POLGUncertain significance1422899388RCV002048453; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898769198987691989876919-
NM_002693.3(POLG):c.64C>T (p.Pro22Ser)5428POLGUncertain significance568058975RCV001214773; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898769228987692215:g.89876922G>A-
NM_002693.3(POLG):c.62C>T (p.Ala21Val)5428POLGUncertain significance796052893RCV002353954|RCV003098190; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898769248987692489876924-
NM_002693.3(POLG):c.61G>T (p.Ala21Ser)5428POLGUncertain significance-1RCV003081562; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987692589876925NC_000015.9:g.89876925C>A-
NM_002693.3(POLG):c.60A>G (p.Pro20=)5428POLGLikely benign944054671RCV000610944|RCV002529438; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898769268987692615:g.89876926T>CClinGen:CA274566790CN169374 not specified;
NM_002693.3(POLG):c.60A>C (p.Pro20=)5428POLGLikely benign944054671RCV000758536|RCV001585690; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202158987692689876926NC_000015.9:g.89876926T>G-
NM_002693.3(POLG):c.58C>T (p.Pro20Ser)5428POLGUncertain significance1596362883RCV001373260; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898769288987692889876928-
NM_002693.3(POLG):c.56T>C (p.Val19Ala)5428POLGUncertain significance770885465RCV001587805|RCV002592482; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898769308987693089876930-
NM_002693.3(POLG):c.54G>C (p.Pro18=)5428POLGLikely benign1378670216RCV000633567|RCV001417937; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987693289876932NC_000015.9:g.89876932C>GClinGen:CA492290676C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.53C>T (p.Pro18Leu)5428POLGUncertain significance1394515933RCV001991076; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898769338987693389876933-
NM_002693.3(POLG):c.53C>A (p.Pro18Gln)5428POLGUncertain significance1394515933RCV001901127; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898769338987693389876933-
NM_002693.3(POLG):c.52C>T (p.Pro18Ser)5428POLGUncertain significance3087373RCV001851970; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898769348987693415:g.89876934G>AClinGen:CA341889,UniProtKB:P54098#VAR_014904C0751651 Mitochondrial diseases;
NM_002693.3(POLG):c.48A>C (p.Pro16=)5428POLGLikely benign1041095432RCV002200636; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898769388987693889876938-
NM_002693.3(POLG):c.42C>T (p.Val14=)5428POLGLikely benign-1RCV002569474; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987694489876944-
NM_002693.3(POLG):c.39C>T (p.Thr13=)5428POLGLikely benign535213599RCV001418766|RCV001698051; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898769478987694715:g.89876947G>AClinGen:CA274566822CN169374 not specified;
NM_002693.3(POLG):c.38C>G (p.Thr13Ser)5428POLGUncertain significance1199924512RCV000712808|RCV001052244|RCV001849071|RCV002360848; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123158987694889876948NC_000015.9:g.89876948G>C-
NM_002693.3(POLG):c.37A>G (p.Thr13Ala)5428POLGUncertain significance999643917RCV001048223|RCV003223693; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898769498987694915:g.89876949T>C-
NM_002693.3(POLG):c.33C>T (p.Gly11=)5428POLGConflicting interpretations of pathogenicity1482684558RCV000729180|RCV000799230; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987695389876953NC_000015.9:g.89876953G>A-
NM_002693.3(POLG):c.32G>A (p.Gly11Asp)5428POLGConflicting interpretations of pathogenicity765472726RCV000633544|RCV000724132|RCV000763999|RCV001116627|RCV001252351|RCV001847811|RCV002453618|RCV003407646; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|6 conditions|MedGen:C4763519|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Hum15898769548987695415:g.89876954C>TClinGen:CA302812,ClinVar:424791CN169374 not specified;
NM_002693.3(POLG):c.32G>T (p.Gly11Val)5428POLGUncertain significance765472726RCV000532508; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898769548987695415:g.89876954C>AClinGen:CA393775294C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.31G>A (p.Gly11Ser)5428POLGLikely benign764055826RCV000758320; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987695589876955NC_000015.9:g.89876955C>T-
NM_002693.3(POLG):c.30C>T (p.Ala10=)5428POLGLikely benign1060504037RCV000476036|RCV002489101; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions158987695689876956NC_000015.9:g.89876956G>AClinGen:CA16614940C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.29C>T (p.Ala10Val)5428POLGLikely benign774459114RCV000537593; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898769578987695715:g.89876957G>AClinGen:CA7725214C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.27G>C (p.Val9=)5428POLGLikely benign-1RCV002866857; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987695989876959-
NM_002693.3(POLG):c.25G>A (p.Val9Met)5428POLGUncertain significance-1RCV002304737; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898769618987696189876961-
NM_002693.3(POLG):c.21G>A (p.Arg7=)5428POLGLikely benign1057523280RCV000429836|RCV002063440; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898769658987696515:g.89876965C>TClinGen:CA16607076CN169374 not specified;
NM_002693.3(POLG):c.19A>T (p.Arg7Trp)5428POLGUncertain significance-1RCV002741823; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987696789876967NC_000015.9:g.89876967T>A-
NM_002693.3(POLG):c.17G>C (p.Trp6Ser)5428POLGUncertain significance1057524249RCV000443728|RCV000758292|RCV001252350; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:000215898769698987696915:g.89876969C>GClinGen:CA10602200CN169374 not specified;
NM_002693.3(POLG):c.15C>G (p.Leu5=)5428POLGLikely benign892999189RCV000553911; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898769718987697115:g.89876971G>CClinGen:CA492290761C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.-25_10dup (p.Leu4delinsProAlaTrpGlySerLeuHisGlnProTer)5428POLGUncertain significance-1RCV002807349; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987697589876976NC_000015.9:g.89876978_89877012dup-
NM_002693.3(POLG):c.3G>C (p.Met1Ile)5428POLGUncertain significance878877754RCV001899454; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898769838987698389876983-
NM_002693.3(POLG):c.1A>G (p.Met1Val)5428POLGUncertain significance201786897RCV000633552; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158987698589876985NC_000015.9:g.89876985T>CClinGen:CA274566852C0205710 203700 Progressive sclerosing poliodystrophy;
NM_002693.3(POLG):c.-80C>T5428POLGConflicting interpretations of pathogenicity3087378RCV000358599|RCV000735028|RCV001082745|RCV002522809; NMedGen:C4763519|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123158987706589877065NC_000015.9:g.89877065G>AClinGen:CA10647470CN239393 POLG-Related Spectrum Disorders;
NM_002693.2(POLG):c.-647A>G5428POLGBenign2856268RCV000861625|RCV001522971; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898783918987839115:g.89878391T>C-
NM_002693.3(POLG):c.3568del (p.Arg1190fs)-1POLG;POLGARF;FANCILikely pathogenic1596348470RCV001009078|RCV003467588; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606828986068215:g.89860682_89860682del-
NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly)-1POLG;POLGARF;FANCIUncertain significance144346886RCV000292852|RCV000387145|RCV000794915|RCV001121231; NMedGen:C4763519|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053, Orphanet:84158986000289860002NC_000015.9:g.89860002G>CClinGen:CA10646677C0015625 Fanconi anemia;
NM_000326.5(RLBP1):c.504_508del (p.Ser168fs)-1POLG;RLBP1Pathogenic1379405913RCV000731507|RCV000989373; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726158975830889758312NC_000015.9:g.89758311_89758315del-
NM_005035.4(POLRMT):c.719C>T (p.Pro240Leu)5442POLRMTUncertain significance-1RCV003148297|RCV003148298; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0008003,MedGen:C5231255, Orphanet:25489219629643629643-
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000140521 MSeqDR Search EnsemblPOLG151832polymerase (DNA directed), gamma [Source:HGNC Symbol;Acc:9179]00032

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