Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_022336.4(EDAR):c.266G>A (p.Arg89His) | 10913 | EDAR | Pathogenic | 121908450 | RCV000006206|RCV000032598|RCV000681480|RCV001038628|RCV001253315; | N | MONDO: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,Or | 2 | 109545744 | 109545744 | | | 2:g.109545744C>T | ClinGen:CA130257,UniProtKB:Q9UNE0#VAR_013449,OMIM:604095.0002 | C0406702 224900 Autosomal recessive hypohidrotic ectodermal dysplasia syndrome; | |
NM_022336.4(EDAR):c.265C>T (p.Arg89Cys) | 10913 | EDAR | Pathogenic | 780424781 | RCV000681479|RCV002531420; | N | MONDO: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:238468 | 2 | 109545745 | 109545745 | | | 2:g.109545745G>A | - | C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type; | |
NM_002693.3(POLG):c.*49G>A | -1 | FANCI;POLG;POLGARF | Conflicting interpretations of pathogenicity | 758880377 | RCV000267134|RCV000361772|RCV000758389; | N | MedGen:C4763519|MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053, Orphanet:84|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89859933 | 89859933 | | | 15:g.89859933C>T | ClinGen:CA10602326 | C0015625 Fanconi anemia; | |
NM_002693.3(POLG):c.*30G>A | -1 | FANCI;POLG;POLGARF | Conflicting interpretations of pathogenicity | 3087376 | RCV000381450|RCV000758402|RCV001121230|RCV001546322; | N | MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053, Orphanet:84|MedGen:C3661900 | 15 | 89859952 | 89859952 | | | 15:g.89859952C>T | ClinGen:CA7724021 | CN239393 POLG-Related Spectrum Disorders; | |
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) | -1 | FANCI;POLG;POLGARF | Benign/Likely benign | 3087374 | RCV000118022|RCV000291582|RCV000327842|RCV000676315|RCV000758401|RCV001000243|RCV001847612|RCV002311519|RCV002496426; | N | MedGen: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:MON | 15 | 89859994 | 89859994 | | | 15:g.89859994C>A | UniProtKB:P54098#VAR_014911,ClinGen:CA154730 | C0015625 Fanconi anemia; | |
NM_002693.3(POLG):c.3701G>A (p.Arg1234Gln) | -1 | FANCI;POLG;POLGARF | Uncertain significance | 750792237 | RCV001731423|RCV001852487|RCV002485274; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053, Orphanet:84 | 15 | 89860001 | 89860001 | | | NC_000015.9:g.89860001C>T | ClinGen:CA316631 | CN169374 not specified; | |
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val) | -1 | FANCI;POLG;POLGARF | Uncertain significance | 199751339 | RCV000188632|RCV000758560|RCV000765233|RCV000766619|RCV001116313|RCV001116314; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MedGen:C3661900|MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053, Orphanet:84|MedGen:C4763519 | 15 | 89860052 | 89860052 | | | 15:g.89860052G>A | ClinGen:CA316794 | CN169374 not specified; | |
NM_002693.3(POLG):c.3644-9A>G | -1 | FANCI;POLG;POLGARF | Benign/Likely benign | 115048121 | RCV000118021|RCV000352728|RCV000467871|RCV000857933; | N | MedGen:CN169374|MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053, Orphanet:84|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89860067 | 89860067 | | | 15:g.89860067T>C | ClinGen:CA288991 | C0015625 Fanconi anemia; | |
NM_002693.3(POLG):c.3644-16T>C | -1 | FANCI;POLG;POLGARF | Conflicting interpretations of pathogenicity | 536522307 | RCV000405320|RCV000758387|RCV001116315|RCV001705474; | N | 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:84|MedGen:C3661900 | 15 | 89860074 | 89860074 | | | 15:g.89860074A>G | ClinGen:CA7724048 | C0015625 Fanconi anemia; | |
NM_002693.3(POLG):c.3643+25A>G | -1 | FANCI;POLG;POLGARF | Likely benign | 74842339 | RCV000758552|RCV001564207; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89860582 | 89860582 | | | NC_000015.9:g.89860582T>C | - | | |
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) | -1 | FANCI;POLG;POLGARF | Benign | 2307441 | RCV000020476|RCV000118018|RCV000386578|RCV000469563|RCV000676317|RCV000755650|RCV000999632|RCV001119316|RCV001847611|RCV002311518; | N | MONDO: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: | 15 | 89861826 | 89861826 | | | 15:g.89861826T>C | ClinGen:CA248706,UniProtKB:P54098#VAR_014909 | C0015625 Fanconi anemia; | |
NM_002693.3(POLG):c.3105-11T>C | -1 | FANCI;POLG;POLGARF | Benign/Likely benign | 2302084 | RCV000153754|RCV000284559|RCV000281377|RCV000758546|RCV001789183|RCV001789185|RCV001789184|RCV001789186; | N | MedGen: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,Me | 15 | 89862341 | 89862341 | | | NC_000015.9:g.89862341A>G | ClinGen:CA295631 | C0015625 Fanconi anemia; | |
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) | -1 | FANCI;POLG;POLGARF | Benign/Likely benign | 2307431 | RCV000118015|RCV000338726|RCV000341944|RCV000467151|RCV000676320|RCV001847712|RCV002312230; | N | MedGen: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:D | 15 | 89864020 | 89864020 | | | 15:g.89864020G>A | ClinGen:CA288986 | C0015625 Fanconi anemia; | |
NM_002693.3(POLG):c.3601del (p.Ser1201fs) | 5428 | POLG | Pathogenic/Likely pathogenic | 781311846 | RCV001837082|RCV002542788; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860649 | 89860649 | | | 89860648 | - | | |
NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer) | 5428 | POLG | Pathogenic/Likely pathogenic | 1596348443 | RCV000995841|RCV003467557; | N | MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860673 | 89860676 | | | 15:g.89860673_89860676del | - | | |
NM_002693.3(POLG):c.3538_3539dup (p.Ala1182fs) | 5428 | POLG | Pathogenic/Likely pathogenic | -1 | RCV003225607; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860710 | 89860711 | | | | - | | |
NM_002693.3(POLG):c.3483-4_3497del | 5428 | POLG | Pathogenic/Likely pathogenic | 756325504 | RCV000758281|RCV001838129|RCV003396320; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900| | 15 | 89860753 | 89860771 | | | NC_000015.9:g.89860753_89860771del | - | | |
NM_002693.3(POLG):c.3483-2A>G | 5428 | POLG | Pathogenic/Likely pathogenic | 1057518035 | RCV000414416|RCV000758490; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860769 | 89860769 | | | 15:g.89860769T>C | ClinGen:CA10602278 | CN517202 not provided; | |
NM_002693.3(POLG):c.3482+2T>C | 5428 | POLG | Pathogenic/Likely pathogenic | 1466226819 | RCV001939367; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861770 | 89861770 | | | 89861770 | - | | |
NM_002693.3(POLG):c.3424dup (p.Arg1142fs) | 5428 | POLG | Pathogenic/Likely pathogenic | 1555452453 | RCV000482298|RCV001336497; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861829 | 89861830 | | | 15:g.89861829_89861830insG | ClinGen:CA16620017 | CN517202 not provided; | |
NM_002693.3(POLG):c.3409dup (p.Val1137fs) | 5428 | POLG | Pathogenic/Likely pathogenic | 1555452461 | RCV000484097|RCV000506657|RCV000690284; | N | MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861844 | 89861845 | | | NC_000015.9:g.89861846dup | ClinGen:CA16620018 | CN517202 not provided; | |
NM_002693.3(POLG):c.3406G>A (p.Glu1136Lys) | 5428 | POLG | Pathogenic/Likely pathogenic | 56047213 | RCV000188615|RCV001857636; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861848 | 89861848 | | | 15:g.89861848C>T | ClinGen:CA316760,UniProtKB:P54098#VAR_065092 | CN517202 not provided; | |
NM_002693.3(POLG):c.3358_3361dup (p.Glu1121delinsValTer) | 5428 | POLG | Pathogenic/Likely pathogenic | 1064793800 | RCV000481750|RCV001389063; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861892 | 89861893 | | | 15:g.89861892_89861893insCAAA | ClinGen:CA16620019 | CN517202 not provided; | |
NM_002693.3(POLG):c.3287G>T (p.Arg1096Leu) | 5428 | POLG | Pathogenic/Likely pathogenic | 368435864 | RCV000188616|RCV001857637; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861967 | 89861967 | | | 15:g.89861967C>A | ClinGen:CA316762 | CN517202 not provided; | |
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly) | 5428 | POLG | Pathogenic/Likely pathogenic | 201732356 | RCV000188612|RCV001059624|RCV003330555; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041, Orphanet:35698 | 15 | 89861968 | 89861968 | | | 15:g.89861968G>C | ClinGen:CA316754 | CN517202 not provided; | |
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg) | 5428 | POLG | Pathogenic/Likely pathogenic | 761649878 | RCV000441353|RCV000709798|RCV000758419; | N | MedGen:C3661900|MedGen:CN180166|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861969 | 89861969 | | | 15:g.89861969G>C | ClinGen:CA7724170 | CN517202 not provided; | |
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg) | 5428 | POLG | Pathogenic/Likely pathogenic | 121918049 | RCV000685758|RCV003352982; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89862284 | 89862284 | | | NC_000015.9:g.89862284C>T | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3104+1G>A | 5428 | POLG | Pathogenic/Likely pathogenic | 138917386 | RCV000758276|RCV001546677|RCV002500979; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|6 conditions | 15 | 89862458 | 89862458 | | | NC_000015.9:g.89862458C>T | - | | |
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg) | 5428 | POLG | Pathogenic/Likely pathogenic | 142347031 | RCV000413284|RCV000821077; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864081 | 89864081 | | | 15:g.89864081A>C | ClinGen:CA7724330 | CN517202 not provided; | |
NM_002693.3(POLG):c.2884dup (p.Ala962fs) | 5428 | POLG | Pathogenic/Likely pathogenic | 1252078081 | RCV001048162; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864093 | 89864094 | | | 15:g.89864093_89864094insC | - | | |
NM_002693.3(POLG):c.2870C>T (p.Ala957Val) | 5428 | POLG | Pathogenic/Likely pathogenic | 753160398 | RCV000304218|RCV000758268; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864108 | 89864108 | | | 15:g.89864108G>A | ClinGen:CA7724336 | CN517202 not provided; | |
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro) | 5428 | POLG | Pathogenic/Likely pathogenic | 121918051 | RCV000501672|RCV002524270; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864109 | 89864109 | | | NC_000015.9:g.89864109C>G | ClinGen:CA393752678 | CN517202 not provided; | |
NM_002693.3(POLG):c.2827C>T (p.Arg943Cys) | 5428 | POLG | Pathogenic/Likely pathogenic | 1567186614 | RCV000758264|RCV001546612; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89864151 | 89864151 | | | NC_000015.9:g.89864151G>A | - | | |
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) | 5428 | POLG | Pathogenic/Likely pathogenic | 139590686 | RCV000306622|RCV000321917|RCV000633543|RCV001004600|RCV001848045|RCV002494810; | N | MedGen: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,Hu | 15 | 89864238 | 89864238 | | | 15:g.89864238T>G | ClinGen:CA7724353,UniProtKB:P54098#VAR_058892 | CN517202 not provided; | |
NM_002693.3(POLG):c.2605C>T (p.Arg869Ter) | 5428 | POLG | Pathogenic/Likely pathogenic | 751376824 | RCV000513535|RCV001226304; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864485 | 89864485 | | | 15:g.89864485G>A | ClinGen:CA7724393 | CN517202 not provided; | |
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr) | 5428 | POLG | Pathogenic/Likely pathogenic | 778429780 | RCV000497335|RCV000758455|RCV003232989|RCV003330728; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:C4763519 | 15 | 89864981 | 89864981 | | | 15:g.89864981C>T | ClinGen:CA7724420 | CN517202 not provided; | |
NM_002693.3(POLG):c.2563G>T (p.Val855Leu) | 5428 | POLG | Pathogenic/Likely pathogenic | 771254207 | RCV000758452|RCV000995414; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89865002 | 89865002 | | | NC_000015.9:g.89865002C>A | - | | |
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln) | 5428 | POLG | Pathogenic/Likely pathogenic | 796052888 | RCV000188583|RCV000758451|RCV003137764|RCV003330554; | N | MedGen: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:35698 | 15 | 89865007 | 89865007 | | | NC_000015.9:g.89865007C>T | ClinGen:CA316703 | CN517202 not provided; | |
NM_002693.3(POLG):c.2515del (p.Ala839fs) | 5428 | POLG | Pathogenic/Likely pathogenic | 1596352895 | RCV000995842|RCV003461301; | N | MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865050 | 89865050 | | | 15:g.89865050_89865050del | - | | |
NM_002693.3(POLG):c.2420G>A (p.Arg807His) | 5428 | POLG | Pathogenic/Likely pathogenic | 796052887 | RCV000188575|RCV000758305; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865979 | 89865979 | | | 15:g.89865979C>T | ClinGen:CA316691 | CN517202 not provided; | |
NM_002693.3(POLG):c.2395del (p.Ser799fs) | 5428 | POLG | Pathogenic/Likely pathogenic | 796052919 | RCV000188698|RCV000758426; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866004 | 89866004 | | | 15:g.89866004_89866004del | ClinGen:CA316901 | CN517202 not provided; | |
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) | 5428 | POLG | Pathogenic/Likely pathogenic | 113994097 | RCV000014461|RCV000014459|RCV000014460|RCV000080023|RCV000313739|RCV000507757|RCV000508846|RCV001198081|RCV002247336|RCV002313710; | N | MONDO: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:D028 | 15 | 89866657 | 89866657 | | | 15:g.89866657C>G | ClinVar:157526,ClinGen:CA123150,UniProtKB:P54098#VAR_023673,OMIM:174763.0013 | C0007959 Charcot-Marie-Tooth disease; | |
NM_002693.3(POLG):c.2217_2230dup (p.Ile744fs) | 5428 | POLG | Pathogenic/Likely pathogenic | 1282521429 | RCV000700867|RCV001775973; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89866669 | 89866670 | | | NC_000015.9:g.89866671_89866684dup | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) | 5428 | POLG | Pathogenic/Likely pathogenic | 121918054 | RCV000014467|RCV000188568|RCV000233045|RCV000370280|RCV000508744|RCV000768053|RCV001004601|RCV001813987|RCV001847605|RCV002316196|RCV003318542|RCV003407329; | N | MONDO: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:C0205 | 15 | 89866691 | 89866691 | | | 15:g.89866691C>G | ClinGen:CA201029,UniProtKB:P54098#VAR_058885,OMIM:174763.0019 | C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; | |
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg) | 5428 | POLG | Pathogenic/Likely pathogenic | 796052906 | RCV000188671|RCV000702972|RCV002288793; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886 | 15 | 89868687 | 89868687 | | | NC_000015.9:g.89868687G>C | ClinGen:CA316854,UniProtKB:P54098#VAR_058884 | CN517202 not provided; | |
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln) | 5428 | POLG | Pathogenic/Likely pathogenic | 375305567 | RCV000503435|RCV000660508|RCV003403172; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726| | 15 | 89868750 | 89868750 | | | NC_000015.9:g.89868750C>T | ClinGen:CA7724669 | CN517202 not provided; | |
NM_002693.3(POLG):c.1433+2T>C | 5428 | POLG | Pathogenic/Likely pathogenic | 920850257 | RCV001956083; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870396 | 89870396 | | | 89870396 | - | | |
NM_002693.3(POLG):c.1024-1G>C | 5428 | POLG | Pathogenic/Likely pathogenic | 1567192203 | RCV000731007|RCV003461008; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872063 | 89872063 | | | NC_000015.9:g.89872063C>G | - | | |
NM_002693.3(POLG):c.926G>A (p.Arg309His) | 5428 | POLG | Pathogenic/Likely pathogenic | 780953863 | RCV000421279|RCV001861504|RCV003319987; | N | MedGen: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:C0427144 | 15 | 89872271 | 89872271 | | | 15:g.89872271C>T | ClinGen:CA7724998 | CN517202 not provided; | |
NM_002693.3(POLG):c.922C>T (p.Gln308Ter) | 5428 | POLG | Pathogenic/Likely pathogenic | 1555453824 | RCV000579146|RCV002529053; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872275 | 89872275 | | | 15:g.89872275G>A | ClinGen:CA393765780 | CN517202 not provided; | |
NM_002693.3(POLG):c.915C>G (p.Ser305Arg) | 5428 | POLG | Pathogenic/Likely pathogenic | 769410130 | RCV000188649|RCV000758271|RCV000995844|RCV001332170|RCV002372152; | N | MedGen: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:C0950123 | 15 | 89872282 | 89872282 | | | 15:g.89872282G>C | ClinGen:CA316819 | CN517202 not provided; | |
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) | 5428 | POLG | Pathogenic/Likely pathogenic | 121918044 | RCV000014444|RCV000188648|RCV000626287|RCV000762954|RCV001266602|RCV001813984|RCV003387722; | N | MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MeSH:D030342,MedGen:C0950123|Human Phenotype Ontology:HP:0012103,MedGen:C4023042|MedGen:CN180166 | 15 | 89872286 | 89872286 | | | 15:g.89872286A>C | ClinGen:CA256883,UniProtKB:P54098#VAR_012154,OMIM:174763.0003 | C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; | |
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) | 5428 | POLG | Pathogenic/Likely pathogenic | 121918056 | RCV000014469|RCV000255169|RCV000525480|RCV000787362|RCV002513044; | N | MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726||MeSH:D030342,MedGen:C0950123 | 15 | 89873488 | 89873488 | | | 15:g.89873488G>A | ClinGen:CA123154,UniProtKB:P54098#VAR_023663,OMIM:174763.0021 | C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type; | |
NM_002693.3(POLG):c.380_386del (p.Leu127fs) | 5428 | POLG | Pathogenic/Likely pathogenic | 1064794735 | RCV000481566|RCV001389575; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876600 | 89876606 | | | 15:g.89876600_89876606del | ClinGen:CA16620026 | CN517202 not provided; | |
NM_002693.3(POLG):c.172C>T (p.Gln58Ter) | 5428 | POLG | Pathogenic/Likely pathogenic | 2055625602 | RCV001233059; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876814 | 89876814 | | | 15:g.89876814G>A | - | | |
NM_002693.3(POLG):c.160C>T (p.Gln54Ter) | 5428 | POLG | Pathogenic/Likely pathogenic | 774768199 | RCV000735156|RCV003461011; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876826 | 89876826 | | | NC_000015.9:g.89876826G>A | - | | |
NM_002693.3(POLG):c.67_88del (p.Gly23fs) | 5428 | POLG | Pathogenic/Likely pathogenic | 2055630470 | RCV001264386|RCV001388404; | N | MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876898 | 89876919 | | | 15:g.89876898_89876919del | - | | |
NM_002693.3(POLG):c.3673dup (p.Glu1225fs) | 5428 | POLG | Pathogenic | 1567183122 | RCV000758491; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860028 | 89860029 | | | NC_000015.9:g.89860029dup | - | | |
NM_002693.3(POLG):c.3643+2T>C | 5428 | POLG | Pathogenic | 1335880349 | RCV000734043|RCV001037377|RCV001526407|RCV002507306; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|6 conditions | 15 | 89860605 | 89860605 | | | NC_000015.9:g.89860605A>G | - | | |
NM_002693.3(POLG):c.3643+1G>A | 5428 | POLG | Pathogenic | -1 | RCV003463330; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860606 | 89860606 | | | | - | | |
NM_002693.3(POLG):c.3630C>G (p.Tyr1210Ter) | 5428 | POLG | Pathogenic | 139562274 | RCV001878352; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860620 | 89860620 | | | 89860620 | - | | |
NM_002693.3(POLG):c.3626_3629dup (p.Tyr1210Ter) | 5428 | POLG | Pathogenic | -1 | RCV003463335; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860620 | 89860621 | | | | - | | |
NM_002693.3(POLG):c.3576_3580dup (p.Thr1194delinsLysTer) | 5428 | POLG | Pathogenic | 2152056369 | RCV001960578; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860669 | 89860670 | | | 89860669 | - | | |
NM_002693.3(POLG):c.3574G>T (p.Glu1192Ter) | 5428 | POLG | Pathogenic | 2055309922 | RCV001925518; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860676 | 89860676 | | | 89860676 | - | | |
NM_002693.3(POLG):c.3570del (p.Lys1191fs) | 5428 | POLG | Pathogenic | -1 | RCV002847998; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860680 | 89860680 | | | NC_000015.9:g.89860681del | - | | |
NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn) | 5428 | POLG | Pathogenic | 1131691575 | RCV000493626|RCV000508838|RCV000814983|RCV002527019; | N | MedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89860700 | 89860700 | | | NC_000015.9:g.89860700C>T | ClinGen:CA393747667 | C0751651 Mitochondrial diseases; | |
NM_002693.3(POLG):c.3490_3493dup (p.Ala1165fs) | 5428 | POLG | Pathogenic | 778115255 | RCV000758430; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860756 | 89860757 | | | NC_000015.9:g.89860759_89860762dup | - | | |
NM_002693.3(POLG):c.3447dup (p.Ala1150fs) | 5428 | POLG | Pathogenic | 1567185026 | RCV000758280; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861806 | 89861807 | | | NC_000015.9:g.89861807dup | - | | |
NM_002693.3(POLG):c.3430_3433dup (p.Asp1145fs) | 5428 | POLG | Pathogenic | 1567185048 | RCV000758279|RCV003141738; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89861820 | 89861821 | | | NC_000015.9:g.89861822_89861825dup | - | | |
NM_002693.3(POLG):c.3325_3328del (p.Leu1109fs) | 5428 | POLG | Pathogenic | 1442498340 | RCV001949314; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861926 | 89861929 | | | 89861925 | - | | |
NM_002693.3(POLG):c.3326dup (p.Leu1109fs) | 5428 | POLG | Pathogenic | 2152058768 | RCV001916204; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861927 | 89861928 | | | 89861927 | - | | |
NM_002693.3(POLG):c.3304C>T (p.Gln1102Ter) | 5428 | POLG | Pathogenic | -1 | RCV003019300; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861950 | 89861950 | | | NC_000015.9:g.89861950G>A | - | | |
NC_000015.9:g.(?_89862161)_(89864158_?)del | 5428 | POLG | Pathogenic | -1 | RCV003122608; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862161 | 89864158 | | | | - | | |
NM_002693.3(POLG):c.3255dup (p.Ser1086fs) | 5428 | POLG | Pathogenic | 1596350386 | RCV000794071|RCV001175294; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89862179 | 89862180 | | | 15:g.89862179_89862180insG | - | | |
NM_002693.3(POLG):c.3241C>T (p.Arg1081Ter) | 5428 | POLG | Pathogenic | 767708989 | RCV000758278; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862194 | 89862194 | | | NC_000015.9:g.89862194G>A | - | | |
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu) | 5428 | POLG | Pathogenic | 267606959 | RCV000014471|RCV000014470|RCV000188673; | N | MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89862217 | 89862217 | | | 15:g.89862217G>A | ClinGen:CA123156,OMIM:174763.0022 | C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type; | |
NM_002693.3(POLG):c.3158_3159del (p.Thr1053fs) | 5428 | POLG | Pathogenic | 1332921412 | RCV001008827|RCV003461313; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862276 | 89862277 | | | 15:g.89862276_89862277del | - | | |
NM_002693.3(POLG):c.3155dup (p.Thr1053fs) | 5428 | POLG | Pathogenic | 1447799185 | RCV000538511; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862279 | 89862280 | | | NC_000015.9:g.89862285dup | ClinGen:CA658658306 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3149del (p.Lys1050fs) | 5428 | POLG | Pathogenic | 1567185603 | RCV000758277; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862286 | 89862286 | | | NC_000015.9:g.89862287del | - | | |
NM_002693.3(POLG):c.3104+3A>T | 5428 | POLG | Pathogenic | 778573169 | RCV000758418|RCV002312352|RCV003151809; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:C3661900 | 15 | 89862456 | 89862456 | | | NC_000015.9:g.89862456T>A | - | | |
NM_002693.3(POLG):c.3091_3092del (p.Glu1031fs) | 5428 | POLG | Pathogenic | 1555452607 | RCV000526093; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862471 | 89862472 | | | 15:g.89862471_89862472del | ClinGen:CA658658307 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3067C>T (p.Gln1023Ter) | 5428 | POLG | Pathogenic | 1567185770 | RCV000758275; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862496 | 89862496 | | | NC_000015.9:g.89862496G>A | - | | |
NM_002693.3(POLG):c.3057G>A (p.Trp1019Ter) | 5428 | POLG | Pathogenic | 1567185775 | RCV000014465; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862506 | 89862506 | | | 15:g.89862506C>T | OMIM:174763.0017 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3003_3013del (p.Trp1003fs) | 5428 | POLG | Pathogenic | 2055359441 | RCV001989774; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862550 | 89862560 | | | 89862549 | - | | |
NM_002693.3(POLG):c.2901_2907del (p.Met967fs) | 5428 | POLG | Pathogenic | -1 | RCV002286486; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864071 | 89864077 | | | 89864070 | - | | |
NM_002693.3(POLG):c.2894_2897del (p.Arg964_Leu965insTer) | 5428 | POLG | Pathogenic | 2152060929 | RCV001962884; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864081 | 89864084 | | | 89864080 | - | | |
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) | 5428 | POLG | Pathogenic | 113994099 | RCV000014439|RCV000508934|RCV000676321|RCV000758267; | N | MONDO: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:726 | 15 | 89864114 | 89864114 | | | 15:g.89864114T>C | ClinGen:CA341291,UniProtKB:P54098#VAR_012156,OMIM:174763.0001 | C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; | |
NM_002693.3(POLG):c.2851T>A (p.Tyr951Asn) | 5428 | POLG | Pathogenic | 1567186591 | RCV000758460; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864127 | 89864127 | | | NC_000015.9:g.89864127A>T | - | | |
NM_002693.3(POLG):c.2828G>A (p.Arg943His) | 5428 | POLG | Pathogenic | 1567186613 | RCV000758265|RCV000992686; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89864150 | 89864150 | | | NC_000015.9:g.89864150C>T | - | | |
NM_002693.3(POLG):c.2794C>T (p.His932Tyr) | 5428 | POLG | Pathogenic | 121918048 | RCV000014454|RCV000758263|RCV001797046; | N | MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89864184 | 89864184 | | | 15:g.89864184G>A | ClinGen:CA256891,UniProtKB:P54098#VAR_023679,OMIM:174763.0009 | C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; | |
NM_002693.3(POLG):c.2753G>A (p.Trp918Ter) | 5428 | POLG | Pathogenic | 2152061062 | RCV001927899; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864225 | 89864225 | | | 89864225 | - | | |
NM_002693.3(POLG):c.2691_2703dup (p.Leu902fs) | 5428 | POLG | Pathogenic | 2152061226 | RCV002000149; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864386 | 89864387 | | | 89864386 | - | | |
NM_002693.3(POLG):c.2674dup (p.Asp892fs) | 5428 | POLG | Pathogenic | 1283198587 | RCV000758274; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864415 | 89864416 | | | NC_000015.9:g.89864417dup | - | | |
NM_002693.3(POLG):c.2662G>A (p.Gly888Ser) | 5428 | POLG | Pathogenic | 1567186787 | RCV000758316; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864428 | 89864428 | | | NC_000015.9:g.89864428C>T | - | | |
NM_002693.3(POLG):c.2617G>T (p.Glu873Ter) | 5428 | POLG | Pathogenic | 121918047 | RCV000014453; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864473 | 89864473 | | | 15:g.89864473C>A | ClinGen:CA256889,OMIM:174763.0008 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) | 5428 | POLG | Pathogenic | 144500145 | RCV000188581|RCV000633537|RCV000762953|RCV001252349|RCV001847829|RCV002517007; | N | MedGen: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 Ont | 15 | 89865011 | 89865011 | | | 15:g.89865011G>A | ClinGen:CA316701,ClinVar:424791 | CN517202 not provided; | |
NM_002693.3(POLG):c.2551A>G (p.Thr851Ala) | 5428 | POLG | Pathogenic | 775445970 | RCV000758417; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865014 | 89865014 | | | NC_000015.9:g.89865014T>C | - | | |
NM_002693.3(POLG):c.2543_2544dup (p.Thr849fs) | 5428 | POLG | Pathogenic | 1567187103 | RCV000758429; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865020 | 89865021 | | | NC_000015.9:g.89865021_89865022dup | - | | |
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) | 5428 | POLG | Pathogenic | 113994098 | RCV000014449|RCV000014450|RCV000014451|RCV000014452|RCV000188580|RCV000363602|RCV000515163|RCV000678386|RCV001027839|RCV001847601|RCV002054437|RCV002272018|RCV002313707|RCV003230362|RCV003231103|RCV003390682; | N | MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MedGen:C1868097|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MedGen:C3661900|MedGen:C4763519|6 conditions|MONDO: | 15 | 89865023 | 89865023 | | | 15:g.89865023C>T | ClinGen:CA123144,UniProtKB:P54098#VAR_023675,OMIM:174763.0006 | C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; | |
NM_002693.3(POLG):c.2480+1G>A | 5428 | POLG | Pathogenic | 1567187326 | RCV000758428; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865192 | 89865192 | | | NC_000015.9:g.89865192C>T | - | | |
NM_002693.3(POLG):c.2426+1G>C | 5428 | POLG | Pathogenic | 1567187745 | RCV000758427; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865972 | 89865972 | | | NC_000015.9:g.89865972C>G | - | | |
NM_002693.3(POLG):c.2217C>A (p.Tyr739Ter) | 5428 | POLG | Pathogenic | 750514687 | RCV001917522; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866683 | 89866683 | | | 89866683 | - | | |
NM_002693.3(POLG):c.2157+5_2157+6delinsAG | 5428 | POLG | Pathogenic | 1596354607 | RCV000758563; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867040 | 89867041 | | | NC_000015.9:g.89867040_89867041delinsCT | - | | |
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter) | 5428 | POLG | Pathogenic | 1254855971 | RCV000758425|RCV002500980; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89867060 | 89867060 | | | NC_000015.9:g.89867060G>A | - | | |
NM_002693.3(POLG):c.2125C>T (p.Arg709Ter) | 5428 | POLG | Pathogenic | 867038717 | RCV000431312|RCV000758415; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867078 | 89867078 | | | 15:g.89867078G>A | ClinGen:CA10602217 | CN517202 not provided; | |
NM_002693.3(POLG):c.2070+1G>A | 5428 | POLG | Pathogenic | 1567188588 | RCV000758424; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867337 | 89867337 | | | NC_000015.9:g.89867337C>T | - | | |
NM_002693.3(POLG):c.2038del (p.Leu680fs) | 5428 | POLG | Pathogenic | 1567188632 | RCV000758423; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867370 | 89867370 | | | NC_000015.9:g.89867371del | - | | |
NM_002693.3(POLG):c.2004del (p.Met669fs) | 5428 | POLG | Pathogenic | 2152063421 | RCV001386591; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867404 | 89867404 | | | 89867403 | - | | |
NM_002693.3(POLG):c.1947C>A (p.Tyr649Ter) | 5428 | POLG | Pathogenic | 1465650547 | RCV001244608; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868683 | 89868683 | | | 15:g.89868683G>T | - | | |
NM_002693.3(POLG):c.1887del (p.Asp629fs) | 5428 | POLG | Pathogenic | 2055503614 | RCV001212885; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868743 | 89868743 | | | 15:g.89868743_89868743del | - | | |
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp) | 5428 | POLG | Pathogenic | 121918046 | RCV000014446|RCV001382679|RCV001781264; | N | MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89868751 | 89868751 | | | 15:g.89868751G>A | ClinGen:CA256887,UniProtKB:P54098#VAR_023672,OMIM:174763.0005 | C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; | |
NM_002693.3(POLG):c.1846del (p.Glu616fs) | 5428 | POLG | Pathogenic | 2152065886 | RCV001949327; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868784 | 89868784 | | | 89868783 | - | | |
NM_002693.3(POLG):c.1818del (p.Trp607fs) | 5428 | POLG | Pathogenic | 2055505065 | RCV001205837; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868812 | 89868812 | | | 15:g.89868812_89868812del | - | | |
NM_002693.3(POLG):c.1789_1791del (p.Arg597del) | 5428 | POLG | Pathogenic | -1 | RCV002617624; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868839 | 89868841 | | | NC_000015.9:g.89868840_89868842del | - | | |
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp) | 5428 | POLG | Pathogenic | 139717885 | RCV000438492|RCV000758261|RCV003147454; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595 | 15 | 89868841 | 89868841 | | | 15:g.89868841G>A | ClinGen:CA7724686 | CN517202 not provided; | |
NM_002693.3(POLG):c.1783_1786dup (p.Met596fs) | 5428 | POLG | Pathogenic | 2152065935 | RCV001956442; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868843 | 89868844 | | | 89868843 | - | | |
NM_002693.3(POLG):c.1783C>T (p.Gln595Ter) | 5428 | POLG | Pathogenic | 2152065937 | RCV001943891; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868847 | 89868847 | | | 89868847 | - | | |
NM_002693.3(POLG):c.1720C>T (p.Arg574Trp) | 5428 | POLG | Pathogenic | 774474723 | RCV002007520|RCV003322908; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89868910 | 89868910 | | | 89868910 | - | | |
NM_002693.3(POLG):c.1716G>A (p.Trp572Ter) | 5428 | POLG | Pathogenic | 767709505 | RCV000188664|RCV002517886; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868914 | 89868914 | | | 15:g.89868914C>T | ClinGen:CA316842 | CN517202 not provided; | |
NM_002693.3(POLG):c.1575_1578del (p.Met525fs) | 5428 | POLG | Pathogenic | 1253517114 | RCV001956362; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870150 | 89870153 | | | 89870149 | - | | |
NM_002693.3(POLG):c.1562del (p.Pro521fs) | 5428 | POLG | Pathogenic | 1567191094 | RCV000758489; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870166 | 89870166 | | | NC_000015.9:g.89870169del | - | | |
NM_002693.3(POLG):c.1457G>A (p.Trp486Ter) | 5428 | POLG | Pathogenic | 2055531147 | RCV001970028; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870271 | 89870271 | | | 89870271 | - | | |
NM_002693.3(POLG):c.1433+1G>A | 5428 | POLG | Pathogenic | 771623994 | RCV000359026|RCV000758422|RCV002503973; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89870397 | 89870397 | | | 15:g.89870397C>T | ClinGen:CA7724864 | CN517202 not provided; | |
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) | 5428 | POLG | Pathogenic | 113994095 | RCV000014440|RCV000014441|RCV000014442|RCV000014443|RCV000188658|RCV000184011|RCV000347876|RCV000515354|RCV000508942|RCV000735201|RCV001004604|RCV001095683|RCV001198082|RCV001376079|RCV001731286|RCV001813983|RCV001847600|RCV002273931|RCV002316195; | N | MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0016809,MedGen:C1843852, Orphanet:254881|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C36619 | 15 | 89870432 | 89870432 | | | 15:g.89870432C>T | UniProtKB:P54098#VAR_012155,OMIM:174763.0002,ClinGen:CA123140 | C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; | |
NM_002693.3(POLG):c.1356T>G (p.Tyr452Ter) | 5428 | POLG | Pathogenic | -1 | RCV003471718; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870475 | 89870475 | | | | - | | |
NM_002693.3(POLG):c.1345C>T (p.Gln449Ter) | 5428 | POLG | Pathogenic | 1567191417 | RCV000758273; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870486 | 89870486 | | | NC_000015.9:g.89870486G>A | - | | |
NM_002693.3(POLG):c.1289T>C (p.Met430Thr) | 5428 | POLG | Pathogenic | 1567191474 | RCV000758436; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870542 | 89870542 | | | NC_000015.9:g.89870542A>G | - | | |
NM_002693.3(POLG):c.1251-2A>G | 5428 | POLG | Pathogenic | 2055536585 | RCV001202188; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870582 | 89870582 | | | 15:g.89870582T>C | - | | |
NM_002693.3(POLG):c.1251-2A>T | 5428 | POLG | Pathogenic | -1 | RCV003463342; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870582 | 89870582 | | | | - | | |
NM_002693.3(POLG):c.1237_1250dup (p.Arg417fs) | 5428 | POLG | Pathogenic | 2152067781 | RCV001389357; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871686 | 89871687 | | | 89871686 | - | | |
NM_002693.3(POLG):c.1128_1129del (p.Phe377fs) | 5428 | POLG | Pathogenic | -1 | RCV002851670; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871957 | 89871958 | | | NC_000015.9:g.89871958_89871959del | - | | |
NM_002693.3(POLG):c.1120C>T (p.Arg374Ter) | 5428 | POLG | Pathogenic | 960142425 | RCV000758414; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871966 | 89871966 | | | NC_000015.9:g.89871966G>A | - | | |
NM_002693.3(POLG):c.1035G>A (p.Trp345Ter) | 5428 | POLG | Pathogenic | 2152067996 | RCV001877576; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872051 | 89872051 | | | 89872051 | - | | |
NM_002693.3(POLG):c.951_961dup (p.Lys321fs) | 5428 | POLG | Pathogenic | 1596359629 | RCV000855757; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872235 | 89872236 | | | 15:g.89872235_89872236insTGTGTTTGCCC | - | | |
NM_002693.3(POLG):c.925C>T (p.Arg309Cys) | 5428 | POLG | Pathogenic | 886041592 | RCV000292336|RCV000985201|RCV002500971; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89872272 | 89872272 | | | 15:g.89872272G>A | ClinGen:CA10603352 | CN517202 not provided; | |
NM_002693.3(POLG):c.907G>A (p.Gly303Arg) | 5428 | POLG | Pathogenic | 749799663 | RCV001957402; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872290 | 89872290 | | | 89872290 | - | | |
NM_002693.3(POLG):c.846C>G (p.Tyr282Ter) | 5428 | POLG | Pathogenic | 2152068651 | RCV001912854; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873321 | 89873321 | | | 89873321 | - | | |
NM_002693.3(POLG):c.823C>T (p.Arg275Ter) | 5428 | POLG | Pathogenic | 1057517803 | RCV000414708|RCV001865283; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873344 | 89873344 | | | 15:g.89873344G>A | ClinGen:CA16042905 | CN517202 not provided; | |
NM_002693.3(POLG):c.705G>A (p.Trp235Ter) | 5428 | POLG | Pathogenic | 1567192879 | RCV000758270; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873462 | 89873462 | | | NC_000015.9:g.89873462C>T | - | | |
NM_002693.3(POLG):c.698dup (p.Tyr233Ter) | 5428 | POLG | Pathogenic | 1567192884 | RCV000758432; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873468 | 89873469 | | | NC_000015.9:g.89873469dup | - | | |
NM_002693.3(POLG):c.660G>A (p.Trp220Ter) | 5428 | POLG | Pathogenic | 1596360430 | RCV000803087; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873507 | 89873507 | | | 15:g.89873507C>T | - | | |
NM_002693.3(POLG):c.552_657del (p.Val185fs) | 5428 | POLG | Pathogenic | -1 | RCV002895382; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876329 | 89876434 | | | NC_000015.9:g.89876330_89876435del | - | | |
NM_002693.3(POLG):c.646del (p.Ser216fs) | 5428 | POLG | Pathogenic | 1567193844 | RCV000688138; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876340 | 89876340 | | | NC_000015.9:g.89876340del | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.624C>A (p.Cys208Ter) | 5428 | POLG | Pathogenic | 1159974816 | RCV001918974; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876362 | 89876362 | | | 89876362 | - | | |
NM_002693.3(POLG):c.287del (p.Gly96fs) | 5428 | POLG | Pathogenic | 2141815273 | RCV001939704; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876699 | 89876699 | | | 89876698 | - | | |
NM_002693.3(POLG):c.268C>T (p.Gln90Ter) | 5428 | POLG | Pathogenic | 1473911378 | RCV001390462; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876718 | 89876718 | | | 89876718 | - | | |
NM_002693.3(POLG):c.229C>T (p.Gln77Ter) | 5428 | POLG | Pathogenic | -1 | RCV002824674; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876757 | 89876757 | | | NC_000015.9:g.89876757G>A | - | | |
NM_002693.3(POLG):c.202C>T (p.Gln68Ter) | 5428 | POLG | Pathogenic | 202039305 | RCV000296330|RCV000758262; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876784 | 89876784 | | | 15:g.89876784G>A | ClinGen:CA10602212 | CN517202 not provided; | |
NM_002693.3(POLG):c.178C>T (p.Gln60Ter) | 5428 | POLG | Pathogenic | -1 | RCV002715795; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876808 | 89876808 | | | NC_000015.9:g.89876808G>A | - | | |
NM_002693.3(POLG):c.75G>A (p.Trp25Ter) | 5428 | POLG | Pathogenic | 1021719232 | RCV000855758; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876911 | 89876911 | | | 15:g.89876911C>T | - | | |
NM_002693.3(POLG):c.3609_3612dup (p.Gly1205fs) | 5428 | POLG | Likely pathogenic | 886043241 | RCV000345512|RCV001753746|RCV003463763; | N | MedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860637 | 89860638 | | | NC_000015.9:g.89860638_89860641dup | ClinGen:CA10605281 | C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; | |
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn) | 5428 | POLG | Likely pathogenic | 1085307741 | RCV000489004|RCV000758421|RCV001526408|RCV003403134; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380| | 15 | 89860677 | 89860677 | | | 15:g.89860677C>A | ClinGen:CA10602282 | CN517202 not provided; | |
NM_002693.3(POLG):c.3565dup (p.Leu1189fs) | 5428 | POLG | Likely pathogenic | -1 | RCV003463339; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860684 | 89860685 | | | | - | | |
NM_002693.3(POLG):c.3562T>C (p.Cys1188Arg) | 5428 | POLG | Likely pathogenic | 754844175 | RCV000758330; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860688 | 89860688 | | | NC_000015.9:g.89860688A>G | - | | |
NM_002693.3(POLG):c.3551A>G (p.Asp1184Gly) | 5428 | POLG | Likely pathogenic | -1 | RCV002706023; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860699 | 89860699 | | | NC_000015.9:g.89860699T>C | - | | |
NM_002693.3(POLG):c.3528_3531dup (p.Ala1178fs) | 5428 | POLG | Likely pathogenic | -1 | RCV003463337; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860718 | 89860719 | | | | - | | |
NM_002693.3(POLG):c.3528_3531del (p.Val1177fs) | 5428 | POLG | Likely pathogenic | 1596348547 | RCV000992689|RCV003461299; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860719 | 89860722 | | | 15:g.89860719_89860722del | - | | |
NM_002693.3(POLG):c.3523C>T (p.Gln1175Ter) | 5428 | POLG | Likely pathogenic | 1567184117 | RCV000686623|RCV001756159; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380 | 15 | 89860727 | 89860727 | | | NC_000015.9:g.89860727G>A | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3483-7_3509del | 5428 | POLG | Likely pathogenic | -1 | RCV003471721; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860741 | 89860774 | | | | - | | |
NM_002693.3(POLG):c.3470A>G (p.Asn1157Ser) | 5428 | POLG | Likely pathogenic | 548076633 | RCV000188622|RCV000758478; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861784 | 89861784 | | | 15:g.89861784T>C | ClinGen:CA316774 | CN517202 not provided; | |
NM_002693.3(POLG):c.3400C>T (p.His1134Tyr) | 5428 | POLG | Likely pathogenic | -1 | RCV002740529; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861854 | 89861854 | | | NC_000015.9:g.89861854G>A | - | | |
NM_002693.3(POLG):c.3338T>C (p.Leu1113Pro) | 5428 | POLG | Likely pathogenic | 1567185178 | RCV000758472; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861916 | 89861916 | | | NC_000015.9:g.89861916A>G | - | | |
NM_002693.3(POLG):c.3328C>T (p.His1110Tyr) | 5428 | POLG | Likely pathogenic | 2152058760 | RCV002027135; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861926 | 89861926 | | | 89861926 | - | | |
NM_002693.3(POLG):c.3313G>C (p.Ala1105Pro) | 5428 | POLG | Likely pathogenic | 753410045 | RCV000188617|RCV001753589|RCV002514035; | N | MedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861941 | 89861941 | | | 15:g.89861941C>G | ClinGen:CA316764 | CN517202 not provided; | |
NM_002693.3(POLG):c.3311C>G (p.Ser1104Cys) | 5428 | POLG | Likely pathogenic | -1 | RCV003463336; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861943 | 89861943 | | | | - | | |
NM_002693.3(POLG):c.3296G>A (p.Trp1099Ter) | 5428 | POLG | Likely pathogenic | 2055345819 | RCV001262612; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861958 | 89861958 | | | 15:g.89861958C>T | - | | |
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) | 5428 | POLG | Likely pathogenic | 201732356 | RCV000188613|RCV000762952|RCV000758420|RCV001263172|RCV001753588|RCV001814095; | N | MedGen: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 Pheno | 15 | 89861968 | 89861968 | | | 15:g.89861968G>A | ClinGen:CA316756,UniProtKB:P54098#VAR_023686 | CN517202 not provided; | |
NM_002693.3(POLG):c.3282del (p.Ser1095fs) | 5428 | POLG | Likely pathogenic | 1596350117 | RCV001004599; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298 | 15 | 89861972 | 89861972 | | | 15:g.89861972_89861972del | - | | |
NM_002693.3(POLG):c.3277_3278del (p.Met1093fs) | 5428 | POLG | Likely pathogenic | -1 | RCV003463327; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861976 | 89861977 | | | | - | | |
NM_002693.3(POLG):c.3242G>C (p.Arg1081Pro) | 5428 | POLG | Likely pathogenic | 140079523 | RCV000758466; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862193 | 89862193 | | | NC_000015.9:g.89862193C>G | - | | |
NM_002693.3(POLG):c.3229dup (p.Cys1077fs) | 5428 | POLG | Likely pathogenic | -1 | RCV003463333; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862205 | 89862206 | | | | - | | |
NM_002693.3(POLG):c.3161_3162del (p.Glu1054fs) | 5428 | POLG | Likely pathogenic | -1 | RCV003463332; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862273 | 89862274 | | | | - | | |
NM_002693.3(POLG):c.3152G>A (p.Gly1051Glu) | 5428 | POLG | Likely pathogenic | 775248939 | RCV001240587; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862283 | 89862283 | | | 15:g.89862283C>T | - | | |
NM_002693.3(POLG):c.3104+2_3104+5del | 5428 | POLG | Likely pathogenic | 761664802 | RCV001508771|RCV002564259; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862454 | 89862457 | | | 89862453 | - | | |
NM_002693.3(POLG):c.3104+2T>A | 5428 | POLG | Likely pathogenic | 747632869 | RCV000483183|RCV002481523|RCV003464028; | N | MedGen:C3661900|6 conditions|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862457 | 89862457 | | | 15:g.89862457A>T | ClinGen:CA7724257 | CN517202 not provided; | |
NM_002693.3(POLG):c.2981+2T>G | 5428 | POLG | Likely pathogenic | 775260762 | RCV001065150; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89863995 | 89863995 | | | 15:g.89863995A>C | - | | |
NM_002693.3(POLG):c.2951_2954dup (p.Met985fs) | 5428 | POLG | Likely pathogenic | -1 | RCV003463338; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864023 | 89864024 | | | | - | | |
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser) | 5428 | POLG | Likely pathogenic | 121918051 | RCV000014462|RCV003460472; | N | MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864109 | 89864109 | | | 15:g.89864109C>A | ClinGen:CA256895,UniProtKB:P54098#VAR_023682,OMIM:174763.0014 | C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; | |
NM_002693.3(POLG):c.2799T>G (p.Ser933Arg) | 5428 | POLG | Likely pathogenic | 765916932 | RCV000497987|RCV000758459; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864179 | 89864179 | | | 15:g.89864179A>C | ClinGen:CA7724346 | CN517202 not provided; | |
NM_002693.3(POLG):c.2797A>C (p.Ser933Arg) | 5428 | POLG | Likely pathogenic | -1 | RCV003055508; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864181 | 89864181 | | | NC_000015.9:g.89864181T>G | - | | |
NM_002693.3(POLG):c.2698G>A (p.Ala900Thr) | 5428 | POLG | Likely pathogenic | 935602068 | RCV000758457; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864392 | 89864392 | | | NC_000015.9:g.89864392C>T | - | | |
NM_002693.3(POLG):c.2666C>T (p.Ala889Val) | 5428 | POLG | Likely pathogenic | -1 | RCV002866545; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864424 | 89864424 | | | NC_000015.9:g.89864424G>A | - | | |
NM_002693.3(POLG):c.2665G>C (p.Ala889Pro) | 5428 | POLG | Likely pathogenic | 763393580 | RCV000855760; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864425 | 89864425 | | | 15:g.89864425C>G | - | | |
NM_002693.3(POLG):c.2657T>C (p.Leu886Pro) | 5428 | POLG | Likely pathogenic | 769210629 | RCV000758315; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864433 | 89864433 | | | NC_000015.9:g.89864433A>G | - | | |
NM_002693.3(POLG):c.2598+2T>C | 5428 | POLG | Likely pathogenic | 1596352762 | RCV000792937; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864965 | 89864965 | | | 15:g.89864965A>G | - | | |
NM_002693.3(POLG):c.2591A>G (p.Asn864Ser) | 5428 | POLG | Likely pathogenic | 121918050 | RCV000014458|RCV002513043; | N | MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864974 | 89864974 | | | 15:g.89864974T>C | ClinGen:CA123148,UniProtKB:P54098#VAR_023676,OMIM:174763.0012 | C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type; | |
NM_002693.3(POLG):c.2589C>G (p.Ser863Arg) | 5428 | POLG | Likely pathogenic | 1567187057 | RCV000758309; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864976 | 89864976 | | | NC_000015.9:g.89864976G>C | - | | |
NM_002693.3(POLG):c.2585C>T (p.Ala862Val) | 5428 | POLG | Likely pathogenic | 2152061668 | RCV001367160; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864980 | 89864980 | | | 89864980 | - | | |
NM_002693.3(POLG):c.2555G>A (p.Arg852His) | 5428 | POLG | Likely pathogenic | 1567187093 | RCV000758450; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865010 | 89865010 | | | NC_000015.9:g.89865010C>T | - | | |
NM_002693.3(POLG):c.2480+2T>C | 5428 | POLG | Likely pathogenic | -1 | RCV003471715; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865191 | 89865191 | | | | - | | |
NM_002693.3(POLG):c.2391_2393del (p.Met797del) | 5428 | POLG | Likely pathogenic | 1567187766 | RCV000758304; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866006 | 89866008 | | | NC_000015.9:g.89866008_89866010del | - | | |
NM_002693.3(POLG):c.2341G>A (p.Ala781Thr) | 5428 | POLG | Likely pathogenic | -1 | RCV002587906; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866058 | 89866058 | | | NC_000015.9:g.89866058C>T | - | | |
NM_002693.3(POLG):c.2310C>A (p.Phe770Leu) | 5428 | POLG | Likely pathogenic | 755315398 | RCV000855756; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866089 | 89866089 | | | 15:g.89866089G>T | - | | |
NM_002693.3(POLG):c.2266-1G>A | 5428 | POLG | Likely pathogenic | 2152062443 | RCV001970249; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866134 | 89866134 | | | 89866134 | - | | |
NM_002693.3(POLG):c.2262C>G (p.His754Gln) | 5428 | POLG | Likely pathogenic | 1567188178 | RCV000758302; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866638 | 89866638 | | | NC_000015.9:g.89866638G>C | - | | |
NM_002693.3(POLG):c.2070+2T>G | 5428 | POLG | Likely pathogenic | -1 | RCV003463341; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867336 | 89867336 | | | | - | | |
NM_002693.3(POLG):c.1950-2A>G | 5428 | POLG | Likely pathogenic | 2152063472 | RCV002000611; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867460 | 89867460 | | | 89867460 | - | | |
NM_002693.3(POLG):c.1944del (p.Tyr649fs) | 5428 | POLG | Likely pathogenic | -1 | RCV003463340; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868686 | 89868686 | | | | - | | |
NM_002693.3(POLG):c.1862G>A (p.Gly621Asp) | 5428 | POLG | Likely pathogenic | 1567190247 | RCV000758440; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868768 | 89868768 | | | NC_000015.9:g.89868768C>T | - | | |
NM_002693.3(POLG):c.1845dup (p.Glu616fs) | 5428 | POLG | Likely pathogenic | -1 | RCV003463344; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868784 | 89868785 | | | | - | | |
NM_002693.3(POLG):c.1789C>G (p.Arg597Gly) | 5428 | POLG | Likely pathogenic | 139717885 | RCV000758439; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868841 | 89868841 | | | NC_000015.9:g.89868841G>C | - | | |
NM_002693.3(POLG):c.1640_1641del (p.Ala547fs) | 5428 | POLG | Likely pathogenic | -1 | RCV003463329; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869914 | 89869915 | | | | - | | |
NM_002693.3(POLG):c.1586-1G>A | 5428 | POLG | Likely pathogenic | 2055524549 | RCV001332165|RCV001780251; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89869970 | 89869970 | | | 89869970 | - | | |
NM_002693.3(POLG):c.1418T>C (p.Leu473Pro) | 5428 | POLG | Likely pathogenic | 1567191334 | RCV000758283; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870413 | 89870413 | | | NC_000015.9:g.89870413A>G | - | | |
NM_002693.3(POLG):c.1400C>A (p.Ala467Asp) | 5428 | POLG | Likely pathogenic | -1 | RCV002949674; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870431 | 89870431 | | | NC_000015.9:g.89870431G>T | - | | |
NM_002693.3(POLG):c.1360G>T (p.Glu454Ter) | 5428 | POLG | Likely pathogenic | -1 | RCV003471720; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870471 | 89870471 | | | | - | | |
NM_002693.3(POLG):c.1341_1342dup (p.Ala448fs) | 5428 | POLG | Likely pathogenic | -1 | RCV003471717; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870488 | 89870489 | | | | - | | |
NM_002693.3(POLG):c.1250G>C (p.Arg417Thr) | 5428 | POLG | Likely pathogenic | -1 | RCV003463331; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871687 | 89871687 | | | | - | | |
NM_002693.3(POLG):c.1202G>A (p.Trp401Ter) | 5428 | POLG | Likely pathogenic | -1 | RCV003463326; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871735 | 89871735 | | | | - | | |
NM_002693.3(POLG):c.934_935del (p.Trp312fs) | 5428 | POLG | Likely pathogenic | -1 | RCV003463325; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872262 | 89872263 | | | | - | | |
NM_002693.3(POLG):c.895A>C (p.Met299Leu) | 5428 | POLG | Likely pathogenic | -1 | RCV003471714; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872302 | 89872302 | | | | - | | |
NM_002693.3(POLG):c.884dup (p.Met295fs) | 5428 | POLG | Likely pathogenic | -1 | RCV003471716; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872312 | 89872313 | | | | - | | |
NM_002693.3(POLG):c.793_794del (p.Leu265fs) | 5428 | POLG | Likely pathogenic | -1 | RCV003471719; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873373 | 89873374 | | | | - | | |
NM_002693.3(POLG):c.659+1G>T | 5428 | POLG | Likely pathogenic | -1 | RCV002909910; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876326 | 89876326 | | | NC_000015.9:g.89876326C>A | - | | |
NM_002693.3(POLG):c.508del (p.Ala170fs) | 5428 | POLG | Likely pathogenic | -1 | RCV003463343; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876478 | 89876478 | | | | - | | |
NM_002693.3(POLG):c.470T>C (p.Leu157Pro) | 5428 | POLG | Likely pathogenic | 1567194013 | RCV000758480; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876516 | 89876516 | | | NC_000015.9:g.89876516A>G | - | | |
NM_002693.3(POLG):c.368T>G (p.Val123Gly) | 5428 | POLG | Likely pathogenic | -1 | RCV002292198; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876618 | 89876618 | | | 89876618 | - | | |
NM_002693.3(POLG):c.248T>C (p.Leu83Pro) | 5428 | POLG | Likely pathogenic | 1567194243 | RCV000758448; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876738 | 89876738 | | | NC_000015.9:g.89876738A>G | - | | |
NM_002693.3(POLG):c.158_159insGC (p.Gln54fs) | 5428 | POLG | Likely pathogenic | -1 | RCV003463334; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876827 | 89876828 | | | | - | | |
NC_000015.10:g.(?_89316731)_(89316847_?)del | 5428 | POLG | Uncertain significance | -1 | RCV001031829; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89859962 | 89860078 | | | -1 | - | | |
NM_002693.3(POLG):c.3720G>C (p.Ter1240Tyr) | 5428 | POLG | Uncertain significance | 991823575 | RCV001959521; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89859982 | 89859982 | | | 89859982 | - | | |
NM_002693.3(POLG):c.3720G>A (p.Ter1240=) | 5428 | POLG | Uncertain significance | 991823575 | RCV001977064; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89859982 | 89859982 | | | 89859982 | - | | |
NC_000015.9:g.(?_89859982)_(89876985_?)dup | 5428 | POLG | Uncertain significance | -1 | RCV003122609; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89859982 | 89876985 | | | | - | | |
NM_002693.3(POLG):c.3717A>G (p.Pro1239=) | 5428 | POLG | Likely benign | -1 | RCV002605410; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89859985 | 89859985 | | | | - | | |
NM_002693.3(POLG):c.3716del (p.Pro1239fs) | 5428 | POLG | Uncertain significance | 1555452076 | RCV000633555; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89859986 | 89859986 | | | 15:g.89859986_89859986del | ClinGen:CA658798416 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3715C>A (p.Pro1239Thr) | 5428 | POLG | Uncertain significance | -1 | RCV002511343|RCV002571607; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89859987 | 89859987 | | | NC_000015.9:g.89859987G>T | - | | |
NM_002693.3(POLG):c.3712G>C (p.Gly1238Arg) | 5428 | POLG | Uncertain significance | 1024234712 | RCV000699336; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89859990 | 89859990 | | | NC_000015.9:g.89859990C>G | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3711T>G (p.Pro1237=) | 5428 | POLG | Likely benign | 1191183793 | RCV002209216; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89859991 | 89859991 | | | 89859991 | - | | |
NM_002693.3(POLG):c.3710C>T (p.Pro1237Leu) | 5428 | POLG | Uncertain significance | 200788482 | RCV001869910; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89859992 | 89859992 | | | 89859992 | - | | |
NM_002693.3(POLG):c.3706C>T (p.Gln1236Ter) | 5428 | POLG | Uncertain significance | -1 | RCV003109637; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89859996 | 89859996 | | | NC_000015.9:g.89859996G>A | - | | |
NM_002693.3(POLG):c.3701_3702insT (p.Ser1235fs) | 5428 | POLG | Uncertain significance | 2055280453 | RCV001215530; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860000 | 89860001 | | | 15:g.89860000_89860001insA | - | | |
NM_002693.3(POLG):c.3701G>C (p.Arg1234Pro) | 5428 | POLG | Uncertain significance | 750792237 | RCV001823333|RCV001885362; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860001 | 89860001 | | | 89860001 | - | | |
NM_002693.3(POLG):c.3700C>A (p.Arg1234=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 144346886 | RCV000127550|RCV000536053|RCV000710187|RCV002345437; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 89860002 | 89860002 | | | NC_000015.9:g.89860002G>T | ClinGen:CA292858 | CN169374 not specified; | |
NM_002693.3(POLG):c.3700C>T (p.Arg1234Ter) | 5428 | POLG | Uncertain significance | 144346886 | RCV002004562; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860002 | 89860002 | | | 89860002 | - | | |
NM_002693.3(POLG):c.3691T>G (p.Leu1231Val) | 5428 | POLG | Uncertain significance | 941120370 | RCV001954530; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860011 | 89860011 | | | 89860011 | - | | |
NM_002693.3(POLG):c.3691T>C (p.Leu1231=) | 5428 | POLG | Likely benign | 941120370 | RCV002139853; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860011 | 89860011 | | | 89860011 | - | | |
NM_002693.3(POLG):c.3690C>T (p.Ser1230=) | 5428 | POLG | Likely benign | 3179578 | RCV001417556; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860012 | 89860012 | | | 89860012 | - | | |
NM_002693.3(POLG):c.3688T>G (p.Ser1230Ala) | 5428 | POLG | Uncertain significance | 749355151 | RCV001235222; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860014 | 89860014 | | | 15:g.89860014A>C | - | | |
NM_002693.3(POLG):c.3687C>T (p.Gly1229=) | 5428 | POLG | Uncertain significance | 1483948890 | RCV002048365; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860015 | 89860015 | | | 89860015 | - | | |
NM_002693.3(POLG):c.3686G>A (p.Gly1229Asp) | 5428 | POLG | Uncertain significance | 371454241 | RCV002032207; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860016 | 89860016 | | | 89860016 | - | | |
NM_002693.3(POLG):c.3686G>C (p.Gly1229Ala) | 5428 | POLG | Uncertain significance | -1 | RCV003052638; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860016 | 89860016 | | | NC_000015.9:g.89860016C>G | - | | |
NM_002693.3(POLG):c.3686G>T (p.Gly1229Val) | 5428 | POLG | Uncertain significance | -1 | RCV003110835; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860016 | 89860016 | | | NC_000015.9:g.89860016C>A | - | | |
NM_002693.3(POLG):c.3680C>A (p.Thr1227Asn) | 5428 | POLG | Uncertain significance | 775517153 | RCV000734457|RCV000758338; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860022 | 89860022 | | | NC_000015.9:g.89860022G>T | - | | |
NM_002693.3(POLG):c.3671T>C (p.Ile1224Thr) | 5428 | POLG | Uncertain significance | 779072487 | RCV000522166|RCV000758337; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860031 | 89860031 | | | 15:g.89860031A>G | ClinGen:CA7724039 | CN169374 not specified; | |
NM_002693.3(POLG):c.3671T>G (p.Ile1224Ser) | 5428 | POLG | Uncertain significance | 779072487 | RCV001883236; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860031 | 89860031 | | | 89860031 | - | | |
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val) | 5428 | POLG | Conflicting interpretations of pathogenicity | 148786642 | RCV000548544|RCV000765232|RCV001591204|RCV001848933; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685 | 15 | 89860035 | 89860035 | | | 15:g.89860035T>C | ClinGen:CA7724040 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3667A>C (p.Ile1223Leu) | 5428 | POLG | Uncertain significance | 148786642 | RCV001372481; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860035 | 89860035 | | | 89860035 | - | | |
NM_002693.3(POLG):c.3656A>G (p.Asp1219Gly) | 5428 | POLG | Uncertain significance | 776506626 | RCV000497988|RCV001039436; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860046 | 89860046 | | | 15:g.89860046T>C | ClinGen:CA7724042 | CN169374 not specified; | |
NM_002693.3(POLG):c.3654G>A (p.Leu1218=) | 5428 | POLG | Likely benign | 752513968 | RCV003326607|RCV002205106; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860048 | 89860048 | | | 89860048 | - | | |
NM_002693.3(POLG):c.3652C>T (p.Leu1218=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 146301349 | RCV000188539|RCV000726207|RCV000758388; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860050 | 89860050 | | | 15:g.89860050G>A | ClinGen:CA316629 | CN169374 not specified; | |
NM_002693.3(POLG):c.3651G>A (p.Ala1217=) | 5428 | POLG | Likely benign | 775048930 | RCV002098961; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860051 | 89860051 | | | 89860051 | - | | |
NM_002693.3(POLG):c.3650C>G (p.Ala1217Gly) | 5428 | POLG | Uncertain significance | -1 | RCV002736842; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860052 | 89860052 | | | NC_000015.9:g.89860052G>C | - | | |
NM_002693.3(POLG):c.3649G>C (p.Ala1217Pro) | 5428 | POLG | Uncertain significance | 569063066 | RCV001964635|RCV003317552; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374 | 15 | 89860053 | 89860053 | | | 89860053 | - | | |
NM_002693.3(POLG):c.3648A>C (p.Glu1216Asp) | 5428 | POLG | Uncertain significance | -1 | RCV003062884; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860054 | 89860054 | | | NC_000015.9:g.89860054T>G | - | | |
NM_002693.3(POLG):c.3644-9_3644-6dup | 5428 | POLG | Likely benign | 1361303371 | RCV000862750; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860063 | 89860064 | | | 15:g.89860063_89860064insAGAT | - | | |
NM_002693.3(POLG):c.3644-7C>G | 5428 | POLG | Likely benign | 2152052427 | RCV001467431; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860065 | 89860065 | | | 89860065 | - | | |
NM_002693.3(POLG):c.3644-11C>T | 5428 | POLG | Likely benign | 2055283715 | RCV002215880; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860069 | 89860069 | | | 89860069 | - | | |
NM_002693.3(POLG):c.3644-14G>C | 5428 | POLG | Benign | 3087375 | RCV000188538|RCV000758554; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860072 | 89860072 | | | 15:g.89860072C>G | ClinGen:CA316628 | CN169374 not specified; | |
NM_002693.3(POLG):c.3644-14G>A | 5428 | POLG | Likely benign | 3087375 | RCV002174548; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860072 | 89860072 | | | 89860072 | - | | |
NM_002693.3(POLG):c.3644-16T>G | 5428 | POLG | Likely benign | -1 | RCV002917558; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860074 | 89860074 | | | NC_000015.9:g.89860074A>C | - | | |
NM_002693.3(POLG):c.3644-20C>T | 5428 | POLG | Likely benign | -1 | RCV002983135; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860078 | 89860078 | | | NC_000015.9:g.89860078G>A | - | | |
NM_002693.3(POLG):c.3643+180G>A | 5428 | POLG | Benign/Likely benign | 3176238 | RCV000758413|RCV000826748; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89860427 | 89860427 | | | NC_000015.9:g.89860427C>T | - | | |
NM_002693.3(POLG):c.3643+48A>G | 5428 | POLG | Uncertain significance | 2307454 | RCV000758553|RCV000832476|RCV001526409|RCV002249458; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MedGen:CN169374 | 15 | 89860559 | 89860559 | | | NC_000015.9:g.89860559T>C | - | | |
NM_002693.3(POLG):c.3643+17_3643+27del | 5428 | POLG | Likely benign | -1 | RCV003118247; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860580 | 89860590 | | | NC_000015.9:g.89860584_89860594del | - | | |
NM_002693.3(POLG):c.3643+18G>C | 5428 | POLG | Likely benign | 572636339 | RCV002220551; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860589 | 89860589 | | | 89860589 | - | | |
NM_002693.3(POLG):c.3643+17dup | 5428 | POLG | Likely benign | 2152055961 | RCV002082585; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860589 | 89860590 | | | 89860589 | - | | |
NM_002693.3(POLG):c.3643+14A>C | 5428 | POLG | Likely benign | 545559636 | RCV002178741; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860593 | 89860593 | | | 89860593 | - | | |
NM_002693.3(POLG):c.3643+14A>G | 5428 | POLG | Likely benign | 545559636 | RCV002176027; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860593 | 89860593 | | | 89860593 | - | | |
NM_002693.3(POLG):c.3643+7A>C | 5428 | POLG | Likely benign | 1481477683 | RCV001501882; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860600 | 89860600 | | | 89860600 | - | | |
NM_002693.3(POLG):c.3643+3G>A | 5428 | POLG | Uncertain significance | 758587842 | RCV001911497; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860604 | 89860604 | | | 89860604 | - | | |
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter) | 5428 | POLG | Conflicting interpretations of pathogenicity | 781256643 | RCV000579250|RCV000758431; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860610 | 89860610 | | | 15:g.89860610G>A | ClinGen:CA7724076 | CN169374 not specified; | |
NM_002693.3(POLG):c.3640C>G (p.Gln1214Glu) | 5428 | POLG | Likely benign | 781256643 | RCV000758336; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860610 | 89860610 | | | NC_000015.9:g.89860610G>C | - | | |
NM_002693.3(POLG):c.3639C>G (p.Pro1213=) | 5428 | POLG | Likely benign | 756156336 | RCV001481039; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860611 | 89860611 | | | 89860611 | - | | |
NM_002693.3(POLG):c.3638C>T (p.Pro1213Leu) | 5428 | POLG | Uncertain significance | 1338265836 | RCV000498836|RCV001066558; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860612 | 89860612 | | | 15:g.89860612G>A | ClinGen:CA393747195 | CN169374 not specified; | |
NM_002693.3(POLG):c.3637C>T (p.Pro1213Ser) | 5428 | POLG | Uncertain significance | 2055307106 | RCV001089982; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860613 | 89860613 | | | 15:g.89860613G>A | - | | |
NM_002693.3(POLG):c.3633G>T (p.Gly1211=) | 5428 | POLG | Uncertain significance | 2055307243 | RCV001348709; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860617 | 89860617 | | | 89860617 | - | | |
NM_002693.3(POLG):c.3631G>A (p.Gly1211Arg) | 5428 | POLG | Uncertain significance | 768181189 | RCV000811682; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860619 | 89860619 | | | 15:g.89860619C>T | - | | |
NM_002693.3(POLG):c.3630C>T (p.Tyr1210=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 139562274 | RCV000732440|RCV001490953|RCV002458346; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89860620 | 89860620 | | | NC_000015.9:g.89860620G>A | - | | |
NM_002693.3(POLG):c.3628T>C (p.Tyr1210His) | 5428 | POLG | Uncertain significance | 747627023 | RCV001967223; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860622 | 89860622 | | | 89860622 | - | | |
NM_002693.3(POLG):c.3625A>G (p.Arg1209Gly) | 5428 | POLG | Uncertain significance | 2055307966 | RCV001202693; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860625 | 89860625 | | | 15:g.89860625T>C | - | | |
NM_002693.3(POLG):c.3616A>G (p.Met1206Val) | 5428 | POLG | Uncertain significance | -1 | RCV002819713; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860634 | 89860634 | | | NC_000015.9:g.89860634T>C | - | | |
NM_002693.3(POLG):c.3615G>A (p.Gly1205=) | 5428 | POLG | Likely benign | 2152056181 | RCV001417163; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860635 | 89860635 | | | 89860635 | - | | |
NM_002693.3(POLG):c.3615G>T (p.Gly1205=) | 5428 | POLG | Uncertain significance | -1 | RCV002932321; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860635 | 89860635 | | | | - | | |
NM_002693.3(POLG):c.3614G>C (p.Gly1205Ala) | 5428 | POLG | Conflicting interpretations of pathogenicity | 772737979 | RCV000758335; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860636 | 89860636 | | | NC_000015.9:g.89860636C>G | - | | |
NM_002693.3(POLG):c.3613G>A (p.Gly1205Arg) | 5428 | POLG | Uncertain significance | 2055308219 | RCV001907974; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860637 | 89860637 | | | 89860637 | - | | |
NM_002693.3(POLG):c.3612T>A (p.Thr1204=) | 5428 | POLG | Benign/Likely benign | 1300892439 | RCV001337473|RCV001712892|RCV002456470; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 89860638 | 89860638 | | | 89860638 | - | | |
NM_002693.3(POLG):c.3612T>C (p.Thr1204=) | 5428 | POLG | Likely benign | -1 | RCV002797162; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860638 | 89860638 | | | | - | | |
NM_002693.3(POLG):c.3611C>G (p.Thr1204Ser) | 5428 | POLG | Uncertain significance | 1242973021 | RCV001209834; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860639 | 89860639 | | | 15:g.89860639G>C | - | | |
NM_002693.3(POLG):c.3610A>T (p.Thr1204Ser) | 5428 | POLG | Likely benign | 761103159 | RCV000758334; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860640 | 89860640 | | | NC_000015.9:g.89860640T>A | - | | |
NM_002693.3(POLG):c.3607C>A (p.Pro1203Thr) | 5428 | POLG | Uncertain significance | 2055308529 | RCV001296395; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860643 | 89860643 | | | 89860643 | - | | |
NM_002693.3(POLG):c.3607C>T (p.Pro1203Ser) | 5428 | POLG | Uncertain significance | -1 | RCV002721092; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860643 | 89860643 | | | NC_000015.9:g.89860643G>A | - | | |
NM_002693.3(POLG):c.3605A>C (p.Asn1202Thr) | 5428 | POLG | Uncertain significance | 2152056239 | RCV001363537; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860645 | 89860645 | | | 89860645 | - | | |
NM_002693.3(POLG):c.3604A>T (p.Asn1202Tyr) | 5428 | POLG | Uncertain significance | 2152056248 | RCV002029959; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860646 | 89860646 | | | 89860646 | - | | |
NM_002693.3(POLG):c.3597C>A (p.Thr1199=) | 5428 | POLG | Benign | 2307443 | RCV000127547|RCV000231024|RCV000676316|RCV001117760|RCV001526406|RCV001847756|RCV002312590; | N | MedGen: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,MedG | 15 | 89860653 | 89860653 | | | NC_000015.9:g.89860653G>T | ClinGen:CA292856 | CN517202 not provided; | |
NM_002693.3(POLG):c.3597C>T (p.Thr1199=) | 5428 | POLG | Likely benign | 2307443 | RCV000560016; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860653 | 89860653 | | | 15:g.89860653G>A | ClinGen:CA7724088 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3596C>T (p.Thr1199Ile) | 5428 | POLG | Uncertain significance | 970516573 | RCV001944327; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860654 | 89860654 | | | 89860654 | - | | |
NM_002693.3(POLG):c.3590G>A (p.Cys1197Tyr) | 5428 | POLG | Uncertain significance | -1 | RCV002838058; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860660 | 89860660 | | | NC_000015.9:g.89860660C>T | - | | |
NM_002693.3(POLG):c.3589T>C (p.Cys1197Arg) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1426811174 | RCV002042237|RCV002255694; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89860661 | 89860661 | | | 89860661 | - | | |
NM_002693.3(POLG):c.3586G>A (p.Asp1196Asn) | 5428 | POLG | Conflicting interpretations of pathogenicity | 765344513 | RCV000188628|RCV000758333|RCV001847833; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685 | 15 | 89860664 | 89860664 | | | 15:g.89860664C>T | ClinGen:CA316786 | CN169374 not specified; | |
NM_002693.3(POLG):c.3584T>G (p.Met1195Arg) | 5428 | POLG | Uncertain significance | 758720361 | RCV000758332; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860666 | 89860666 | | | NC_000015.9:g.89860666A>C | - | | |
NM_002693.3(POLG):c.3583A>G (p.Met1195Val) | 5428 | POLG | Uncertain significance | 764233623 | RCV002050426; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860667 | 89860667 | | | 89860667 | - | | |
NM_002693.3(POLG):c.3582C>T (p.Thr1194=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1555452247 | RCV000518106|RCV002527512; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860668 | 89860668 | | | NC_000015.9:g.89860668G>A | ClinGen:CA492070597 | CN169374 not specified; | |
NM_002693.3(POLG):c.3580A>G (p.Thr1194Ala) | 5428 | POLG | Uncertain significance | 751698400 | RCV001295679; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860670 | 89860670 | | | 89860670 | - | | |
NM_002693.3(POLG):c.3576A>G (p.Glu1192=) | 5428 | POLG | Likely benign | 369438927 | RCV001397840; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860674 | 89860674 | | | 89860674 | - | | |
NM_002693.3(POLG):c.3572A>G (p.Lys1191Arg) | 5428 | POLG | Uncertain significance | 1567183988 | RCV000758331|RCV001759445; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380 | 15 | 89860678 | 89860678 | | | NC_000015.9:g.89860678T>C | - | | |
NM_002693.3(POLG):c.3570G>A (p.Arg1190=) | 5428 | POLG | Likely benign | 531174853 | RCV001482830; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860680 | 89860680 | | | 15:g.89860680C>T | - | | |
NM_002693.3(POLG):c.3564C>T (p.Cys1188=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 146584956 | RCV000127546|RCV000547592|RCV001847755|RCV003311689; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MedGen:C3661900 | 15 | 89860686 | 89860686 | | | NC_000015.9:g.89860686G>A | ClinGen:CA292854 | CN169374 not specified; | |
NM_002693.3(POLG):c.3561G>C (p.Arg1187=) | 5428 | POLG | Uncertain significance | 62640037 | RCV000118020|RCV000388497|RCV000474604|RCV000857934|RCV001753496|RCV002312231; | N | MedGen: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:C0950123 | 15 | 89860689 | 89860689 | | | 15:g.89860689C>G | ClinGen:CA288989 | CN169374 not specified; | |
NM_002693.3(POLG):c.3561G>A (p.Arg1187=) | 5428 | POLG | Likely benign | 62640037 | RCV002118343; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860689 | 89860689 | | | 89860689 | - | | |
NM_002693.3(POLG):c.3560G>A (p.Arg1187Gln) | 5428 | POLG | Uncertain significance | 199678775 | RCV000730017|RCV000795572|RCV002477699; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89860690 | 89860690 | | | NC_000015.9:g.89860690C>T | - | | |
NM_002693.3(POLG):c.3559_3560insCACC (p.Arg1187fs) | 5428 | POLG | Uncertain significance | 2055310700 | RCV001317129; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860690 | 89860691 | | | 89860690 | - | | |
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp) | 5428 | POLG | Conflicting interpretations of pathogenicity | 369544574 | RCV000188627|RCV000633564|RCV000712805|RCV001847832|RCV002453696; | N | MedGen: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 | 15 | 89860691 | 89860691 | | | NC_000015.9:g.89860691G>A | ClinGen:CA316784 | CN169374 not specified; | |
NM_002693.3(POLG):c.3556G>A (p.Asp1186Asn) | 5428 | POLG | Uncertain significance | 2055310876 | RCV001317380; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860694 | 89860694 | | | 89860694 | - | | |
NM_002693.3(POLG):c.3554T>C (p.Ile1185Thr) | 5428 | POLG | Uncertain significance | -1 | RCV002959040; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860696 | 89860696 | | | NC_000015.9:g.89860696A>G | - | | |
NM_002693.3(POLG):c.3549C>T (p.Val1183=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 777231247 | RCV000296446|RCV000535127|RCV001697753; | N | MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89860701 | 89860701 | | | NC_000015.9:g.89860701G>A | ClinGen:CA7724100 | CN169374 not specified; | |
NM_002693.3(POLG):c.3546A>G (p.Ala1182=) | 5428 | POLG | Likely benign | -1 | RCV003032531; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860704 | 89860704 | | | | - | | |
NM_002693.3(POLG):c.3544G>A (p.Ala1182Thr) | 5428 | POLG | Uncertain significance | 1481381913 | RCV000497499|RCV001857027|RCV003403157; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374 | 15 | 89860706 | 89860706 | | | 15:g.89860706C>T | ClinGen:CA393747713 | CN169374 not specified; | |
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn) | 5428 | POLG | Uncertain significance | 149921636 | RCV000416245|RCV000633559|RCV003323528; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374 | 15 | 89860708 | 89860708 | | | 15:g.89860708C>T | ClinGen:CA7724101 | CN517202 not provided; | |
NM_002693.3(POLG):c.3532G>A (p.Ala1178Thr) | 5428 | POLG | Uncertain significance | 770149949 | RCV001930962|RCV002484532; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89860718 | 89860718 | | | 89860718 | - | | |
NM_002693.3(POLG):c.3531C>T (p.Val1177=) | 5428 | POLG | Likely benign | 1060504039 | RCV001501710; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860719 | 89860719 | | | NC_000015.9:g.89860719G>A | ClinGen:CA16614761 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu) | 5428 | POLG | Conflicting interpretations of pathogenicity | 776031396 | RCV000493365|RCV000686358|RCV001375606|RCV002524050; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MeSH:D030342,MedGen:C0950123 | 15 | 89860723 | 89860723 | | | 15:g.89860723G>A | ClinGen:CA7724103 | CN517202 not provided; | |
NM_002693.3(POLG):c.3526T>C (p.Ser1176Pro) | 5428 | POLG | Conflicting interpretations of pathogenicity | 763205408 | RCV000758329; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860724 | 89860724 | | | NC_000015.9:g.89860724A>G | - | | |
NM_002693.3(POLG):c.3524A>C (p.Gln1175Pro) | 5428 | POLG | Uncertain significance | 188348569 | RCV000793739; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860726 | 89860726 | | | 15:g.89860726T>G | - | | |
NM_002693.3(POLG):c.3522C>T (p.Pro1174=) | 5428 | POLG | Likely benign | 751676137 | RCV001492799; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860728 | 89860728 | | | 89860728 | - | | |
NM_002693.3(POLG):c.3520C>G (p.Pro1174Ala) | 5428 | POLG | Uncertain significance | 762019809 | RCV001891382; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860730 | 89860730 | | | 89860730 | - | | |
NM_002693.3(POLG):c.3519G>A (p.Leu1173=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 953889846 | RCV000465233|RCV000516266; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374 | 15 | 89860731 | 89860731 | | | NC_000015.9:g.89860731C>T | ClinGen:CA10602279 | CN169374 not specified; | |
NM_002693.3(POLG):c.3516C>G (p.Asp1172Glu) | 5428 | POLG | Conflicting interpretations of pathogenicity | 766196697 | RCV000188626|RCV000758328; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860734 | 89860734 | | | 15:g.89860734G>C | ClinGen:CA316782 | CN169374 not specified; | |
NM_002693.3(POLG):c.3511A>C (p.Asn1171His) | 5428 | POLG | Uncertain significance | 1567184138 | RCV000712804|RCV002532938; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860739 | 89860739 | | | NC_000015.9:g.89860739T>G | - | | |
NM_002693.3(POLG):c.3511A>G (p.Asn1171Asp) | 5428 | POLG | Uncertain significance | 1567184138 | RCV001930561; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860739 | 89860739 | | | 89860739 | - | | |
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg) | 5428 | POLG | Conflicting interpretations of pathogenicity | 796052913 | RCV000758327; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860741 | 89860741 | | | NC_000015.9:g.89860741A>C | - | | |
NM_002693.3(POLG):c.3509T>C (p.Leu1170Pro) | 5428 | POLG | Uncertain significance | -1 | RCV002295167; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860741 | 89860741 | | | 89860741 | - | | |
NM_002693.3(POLG):c.3507T>A (p.Gly1169=) | 5428 | POLG | Likely benign | 563064296 | RCV002213663; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860743 | 89860743 | | | 89860743 | - | | |
NM_002693.3(POLG):c.3506G>T (p.Gly1169Val) | 5428 | POLG | Uncertain significance | -1 | RCV003108477; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860744 | 89860744 | | | NC_000015.9:g.89860744C>A | - | | |
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser) | 5428 | POLG | Uncertain significance | 753864625 | RCV000188625|RCV000765234|RCV001321540|RCV003407687; | N | MedGen:C3661900|6 conditions|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726| | 15 | 89860745 | 89860745 | | | 15:g.89860745C>T | ClinGen:CA316780 | CN169374 not specified; | |
NM_002693.3(POLG):c.3502C>T (p.Leu1168=) | 5428 | POLG | Likely benign | 2152056682 | RCV002185077; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860748 | 89860748 | | | 89860748 | - | | |
NM_002693.3(POLG):c.3483-12_3498dup | 5428 | POLG | Uncertain significance | 2055313419 | RCV001957151; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860751 | 89860752 | | | 89860751 | - | | |
NM_002693.3(POLG):c.3498C>T (p.Tyr1166=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1427798436 | RCV000517863|RCV002060254; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860752 | 89860752 | | | NC_000015.9:g.89860752G>A | ClinGen:CA492070832 | CN169374 not specified; | |
NM_002693.3(POLG):c.3497A>G (p.Tyr1166Cys) | 5428 | POLG | Uncertain significance | 754900596 | RCV000188683|RCV001857640; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860753 | 89860753 | | | 15:g.89860753T>C | ClinGen:CA316873 | CN169374 not specified; | |
NM_002693.3(POLG):c.3493G>A (p.Ala1165Thr) | 5428 | POLG | Uncertain significance | 778611629 | RCV001262613; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860757 | 89860757 | | | 15:g.89860757C>T | - | | |
NM_002693.3(POLG):c.3489G>A (p.Met1163Ile) | 5428 | POLG | Uncertain significance | 2055313946 | RCV001350207; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860761 | 89860761 | | | 89860761 | - | | |
NM_002693.3(POLG):c.3483-6T>C | 5428 | POLG | Uncertain significance | -1 | RCV002289379; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860773 | 89860773 | | | 89860773 | - | | |
NM_002693.3(POLG):c.3483-7C>G | 5428 | POLG | Likely benign | 369115751 | RCV001426416; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860774 | 89860774 | | | 89860774 | - | | |
NM_002693.3(POLG):c.3483-13_3483-10dup | 5428 | POLG | Conflicting interpretations of pathogenicity | 1324794268 | RCV001847489|RCV002074407; | N | MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860776 | 89860777 | | | 89860776 | - | | |
NM_002693.3(POLG):c.3483-14T>C | 5428 | POLG | Uncertain significance | 587781119 | RCV000127544|RCV001753508|RCV002055754; | N | MedGen:CN169374|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860781 | 89860781 | | | NC_000015.9:g.89860781A>G | ClinGen:CA292853 | CN169374 not specified; | |
NM_002693.3(POLG):c.3483-14T>A | 5428 | POLG | Likely benign | 587781119 | RCV000758386; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860781 | 89860781 | | | NC_000015.9:g.89860781A>T | - | | |
NM_002693.3(POLG):c.3483-30_3483-16dup | 5428 | POLG | Likely benign | 371909334 | RCV001914023; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860782 | 89860783 | | | 89860782 | - | | |
NM_002693.3(POLG):c.3483-17G>C | 5428 | POLG | Likely benign | 1053731071 | RCV000417472|RCV002059578; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860784 | 89860784 | | | 15:g.89860784C>G | ClinGen:CA16607050 | CN169374 not specified; | |
NM_002693.3(POLG):c.3483-19_3483-18delinsGG | 5428 | POLG | Uncertain significance | -1 | RCV002820336; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860785 | 89860786 | | | NC_000015.9:g.89860785_89860786delinsCC | - | | |
NM_002693.3(POLG):c.3483-19T>G | 5428 | POLG | Benign | 2307438 | RCV000127543|RCV000758550|RCV001711294|RCV001789187|RCV001789188|RCV001789189|RCV001789190; | N | MedGen: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,O | 15 | 89860786 | 89860786 | | | NC_000015.9:g.89860786A>C | ClinGen:CA292852 | CN169374 not specified; | |
NM_002693.3(POLG):c.3483-41A>C | 5428 | POLG | Benign | 2307436 | RCV000758551|RCV001712745|RCV001759446; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380 | 15 | 89860808 | 89860808 | | | NC_000015.9:g.89860808T>G | - | | |
NM_002693.3(POLG):c.3482+44G>A | 5428 | POLG | Benign/Likely benign | 3176228 | RCV000758549|RCV000832475; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89861728 | 89861728 | | | NC_000015.9:g.89861728C>T | - | | |
NM_002693.3(POLG):c.3482+6_3482+44del | 5428 | POLG | Uncertain significance | 771537545 | RCV002011994; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861728 | 89861766 | | | 89861727 | - | | |
NM_002693.3(POLG):c.3482+19C>T | 5428 | POLG | Likely benign | 2152058516 | RCV002216121; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861753 | 89861753 | | | 89861753 | - | | |
NM_002693.3(POLG):c.3482+16G>A | 5428 | POLG | Uncertain significance | 1324465747 | RCV001963956; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861756 | 89861756 | | | 89861756 | - | | |
NM_002693.3(POLG):c.3482+15T>C | 5428 | POLG | Likely benign | 1171976544 | RCV002095439; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861757 | 89861757 | | | 89861757 | - | | |
NM_002693.3(POLG):c.3482+11C>T | 5428 | POLG | Likely benign | 2152058534 | RCV002154590; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861761 | 89861761 | | | 89861761 | - | | |
NM_002693.3(POLG):c.3482+8G>C | 5428 | POLG | Likely benign | 756847018 | RCV001487556; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861764 | 89861764 | | | 89861764 | - | | |
NM_002693.3(POLG):c.3482+7G>A | 5428 | POLG | Conflicting interpretations of pathogenicity | 200309191 | RCV000118019|RCV000633572|RCV000726902; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89861765 | 89861765 | | | 15:g.89861765C>T | ClinGen:CA288988 | CN169374 not specified; | |
NM_002693.3(POLG):c.3482+6C>T | 5428 | POLG | Conflicting interpretations of pathogenicity | 55779802 | RCV000127539|RCV000316461|RCV000559092|RCV000726414|RCV000768049|RCV001847754|RCV003441747; | N | MedGen: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, | 15 | 89861766 | 89861766 | | | NC_000015.9:g.89861766G>A | ClinGen:CA292847 | CN169374 not specified; | |
NM_002693.3(POLG):c.3482+6C>G | 5428 | POLG | Uncertain significance | 55779802 | RCV000546684; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861766 | 89861766 | | | NC_000015.9:g.89861766G>C | ClinGen:CA7724136 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3482+5G>A | 5428 | POLG | Uncertain significance | -1 | RCV002847246; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861767 | 89861767 | | | NC_000015.9:g.89861767C>T | - | | |
NM_002693.3(POLG):c.3482G>C (p.Arg1161Thr) | 5428 | POLG | Uncertain significance | -1 | RCV002619009; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861772 | 89861772 | | | NC_000015.9:g.89861772C>G | - | | |
NM_002693.3(POLG):c.3480C>T (p.Thr1160=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1057521589 | RCV000438460|RCV000733253|RCV002525359; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861774 | 89861774 | | | 15:g.89861774G>A | ClinGen:CA16606827 | CN169374 not specified; | |
NM_002693.3(POLG):c.3479C>T (p.Thr1160Ile) | 5428 | POLG | Uncertain significance | -1 | RCV003051646; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861775 | 89861775 | | | NC_000015.9:g.89861775G>A | - | | |
NM_002693.3(POLG):c.3472C>A (p.Leu1158Ile) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1278715599 | RCV000758479; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861782 | 89861782 | | | NC_000015.9:g.89861782G>T | - | | |
NM_002693.3(POLG):c.3471C>T (p.Asn1157=) | 5428 | POLG | Likely benign | -1 | RCV002852867; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861783 | 89861783 | | | | - | | |
NM_002693.3(POLG):c.3470A>C (p.Asn1157Thr) | 5428 | POLG | Uncertain significance | 548076633 | RCV001578044|RCV002569096; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861784 | 89861784 | | | 89861784 | - | | |
NM_002693.3(POLG):c.3468C>T (p.Thr1156=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 566373471 | RCV000732818|RCV001501052; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861786 | 89861786 | | | NC_000015.9:g.89861786G>A | - | | |
NM_002693.3(POLG):c.3463A>G (p.Ile1155Val) | 5428 | POLG | Uncertain significance | 749640920 | RCV000633545; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861791 | 89861791 | | | NC_000015.9:g.89861791T>C | ClinGen:CA7724138 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3462G>T (p.Gln1154His) | 5428 | POLG | Uncertain significance | -1 | RCV002811339; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861792 | 89861792 | | | NC_000015.9:g.89861792C>A | - | | |
NM_002693.3(POLG):c.3461A>T (p.Gln1154Leu) | 5428 | POLG | Uncertain significance | 1567185010 | RCV000697807; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861793 | 89861793 | | | 15:g.89861793T>A | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3458T>G (p.Leu1153Trp) | 5428 | POLG | Uncertain significance | 2152058582 | RCV002050375; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861796 | 89861796 | | | 89861796 | - | | |
NM_002693.3(POLG):c.3456C>G (p.Ala1152=) | 5428 | POLG | Likely benign | 1567185018 | RCV000758385; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861798 | 89861798 | | | NC_000015.9:g.89861798G>C | - | | |
NM_002693.3(POLG):c.3451C>T (p.Leu1151=) | 5428 | POLG | Uncertain significance | 769193603 | RCV000422598|RCV000758384|RCV001753854; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380 | 15 | 89861803 | 89861803 | | | 15:g.89861803G>A | ClinGen:CA7724139 | CN169374 not specified; | |
NM_002693.3(POLG):c.3450C>T (p.Ala1150=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 774880085 | RCV000188527|RCV000734120|RCV000758476|RCV002317141; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89861804 | 89861804 | | | 15:g.89861804G>A | ClinGen:CA316608 | CN169374 not specified; | |
NM_002693.3(POLG):c.3449C>T (p.Ala1150Val) | 5428 | POLG | Uncertain significance | -1 | RCV002298080; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861805 | 89861805 | | | 89861805 | - | | |
NM_002693.3(POLG):c.3445G>A (p.Ala1149Thr) | 5428 | POLG | Uncertain significance | 879135314 | RCV000712803|RCV000816523; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861809 | 89861809 | | | NC_000015.9:g.89861809C>T | - | | |
NM_002693.3(POLG):c.3444C>T (p.Arg1148=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 374937961 | RCV000712802|RCV001089379; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861810 | 89861810 | | | 15:g.89861810G>A | ClinGen:CA7724140 | CN169374 not specified; | |
NM_002693.3(POLG):c.3443G>A (p.Arg1148His) | 5428 | POLG | Uncertain significance | 145004638 | RCV000188621|RCV001053332|RCV001847831; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685 | 15 | 89861811 | 89861811 | | | 15:g.89861811C>T | ClinGen:CA316772 | CN169374 not specified; | |
NM_002693.3(POLG):c.3419_3442dup (p.Leu1140_Tyr1147dup) | 5428 | POLG | Uncertain significance | 2055342092 | RCV001874804; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861811 | 89861812 | | | 89861811 | - | | |
NM_002693.3(POLG):c.3443G>T (p.Arg1148Leu) | 5428 | POLG | Uncertain significance | 145004638 | RCV002211312|RCV003093841; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861811 | 89861811 | | | 89861811 | - | | |
NM_002693.3(POLG):c.3442C>T (p.Arg1148Cys) | 5428 | POLG | Uncertain significance | 149099318 | RCV000558287|RCV001568583|RCV002456072|RCV002497078; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|6 conditions | 15 | 89861812 | 89861812 | | | NC_000015.9:g.89861812G>A | ClinGen:CA7724141 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys) | 5428 | POLG | Conflicting interpretations of pathogenicity | 2307440 | RCV000513124|RCV000545884; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861818 | 89861818 | | | 15:g.89861818G>A | ClinGen:CA292845,UniProtKB:P54098#VAR_014910 | C0751651 Mitochondrial diseases; | |
NM_002693.3(POLG):c.3432G>A (p.Glu1144=) | 5428 | POLG | Likely benign | -1 | RCV002889972; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861822 | 89861822 | | | | - | | |
NM_002693.3(POLG):c.3430G>A (p.Glu1144Lys) | 5428 | POLG | Uncertain significance | 2152058622 | RCV002001381; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861824 | 89861824 | | | 89861824 | - | | |
NM_002693.3(POLG):c.3429G>A (p.Glu1143=) | 5428 | POLG | Likely benign | -1 | RCV002611701; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861825 | 89861825 | | | | - | | |
NM_002693.3(POLG):c.3427G>A (p.Glu1143Lys) | 5428 | POLG | Uncertain significance | 765123635 | RCV000701540; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861827 | 89861827 | | | NC_000015.9:g.89861827C>T | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3427G>C (p.Glu1143Gln) | 5428 | POLG | Uncertain significance | 765123635 | RCV001230662|RCV002462853; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89861827 | 89861827 | | | 15:g.89861827C>G | - | | |
NM_002693.3(POLG):c.3425G>A (p.Arg1142Gln) | 5428 | POLG | Uncertain significance | 536732038 | RCV000723998|RCV000765235|RCV001219963; | N | MedGen:C3661900|6 conditions|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861829 | 89861829 | | | 15:g.89861829C>T | ClinGen:CA242069 | CN169374 not specified; | |
NM_002693.3(POLG):c.3424C>T (p.Arg1142Trp) | 5428 | POLG | Uncertain significance | 2307442 | RCV000533411|RCV000734718|RCV001119317; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MedGen:C4763519 | 15 | 89861830 | 89861830 | | | 15:g.89861830G>A | ClinGen:CA341884,UniProtKB:P54098#VAR_014908 | C0751651 Mitochondrial diseases; | |
NM_002693.3(POLG):c.3421G>A (p.Val1141Met) | 5428 | POLG | Uncertain significance | -1 | RCV002589266; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861833 | 89861833 | | | NC_000015.9:g.89861833C>T | - | | |
NM_002693.3(POLG):c.3413G>A (p.Arg1138His) | 5428 | POLG | Uncertain significance | 756879546 | RCV001316331; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861841 | 89861841 | | | 89861841 | - | | |
NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys) | 5428 | POLG | Conflicting interpretations of pathogenicity | 767138032 | RCV000676318|RCV000758475|RCV002282324; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374 | 15 | 89861842 | 89861842 | | | 15:g.89861842G>A | - | CN517202 not provided; | |
NM_002693.3(POLG):c.3409G>A (p.Val1137Ile) | 5428 | POLG | Uncertain significance | 2152058666 | RCV002040706; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861845 | 89861845 | | | 89861845 | - | | |
NM_002693.3(POLG):c.3408G>C (p.Glu1136Asp) | 5428 | POLG | Conflicting interpretations of pathogenicity | 755725702 | RCV001206861|RCV001586050|RCV002561238; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 15 | 89861846 | 89861846 | | | 15:g.89861846C>G | - | | |
NM_002693.3(POLG):c.3405C>T (p.Asp1135=) | 5428 | POLG | Uncertain significance | 2307445 | RCV000431112|RCV000633563|RCV001526404|RCV003401433; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MedGen:C3661900 | 15 | 89861849 | 89861849 | | | 15:g.89861849G>A | ClinGen:CA7724149 | CN169374 not specified; | |
NM_002693.3(POLG):c.3399C>T (p.Ile1133=) | 5428 | POLG | Likely benign | 1478045929 | RCV001487209; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861855 | 89861855 | | | 89861855 | - | | |
NM_002693.3(POLG):c.3390C>T (p.Cys1130=) | 5428 | POLG | Likely benign | 1567185105 | RCV000758474; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861864 | 89861864 | | | NC_000015.9:g.89861864G>A | - | | |
NM_002693.3(POLG):c.3383G>A (p.Arg1128His) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1405268319 | RCV000728455|RCV000758473|RCV003323703; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374 | 15 | 89861871 | 89861871 | | | NC_000015.9:g.89861871C>T | - | | |
NM_002693.3(POLG):c.3382C>T (p.Arg1128Cys) | 5428 | POLG | Uncertain significance | 755544706 | RCV000188620|RCV001857638; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861872 | 89861872 | | | 15:g.89861872G>A | ClinGen:CA316770 | CN169374 not specified; | |
NM_002693.3(POLG):c.3381G>A (p.Gly1127=) | 5428 | POLG | Likely benign | 2152058695 | RCV002077090; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861873 | 89861873 | | | 89861873 | - | | |
NM_002693.3(POLG):c.3373A>G (p.Ile1125Val) | 5428 | POLG | Uncertain significance | -1 | RCV002995722; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861881 | 89861881 | | | NC_000015.9:g.89861881T>C | - | | |
NM_002693.3(POLG):c.3368T>C (p.Phe1123Ser) | 5428 | POLG | Uncertain significance | 1441495346 | RCV001998908; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861886 | 89861886 | | | 89861886 | - | | |
NM_002693.3(POLG):c.3363A>G (p.Glu1121=) | 5428 | POLG | Likely benign | 773341540 | RCV000434329|RCV002062788; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861891 | 89861891 | | | 15:g.89861891T>C | ClinGen:CA7724154 | CN169374 not specified; | |
NM_002693.3(POLG):c.3360T>G (p.Phe1120Leu) | 5428 | POLG | Uncertain significance | 573272388 | RCV000692893; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861894 | 89861894 | | | NC_000015.9:g.89861894A>C | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3358T>G (p.Phe1120Val) | 5428 | POLG | Uncertain significance | 776720231 | RCV001966019; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861896 | 89861896 | | | 89861896 | - | | |
NM_002693.3(POLG):c.3356T>C (p.Leu1119Pro) | 5428 | POLG | Uncertain significance | 2152058721 | RCV001919614; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861898 | 89861898 | | | 89861898 | - | | |
NM_002693.3(POLG):c.3348G>C (p.Met1116Ile) | 5428 | POLG | Uncertain significance | -1 | RCV002574640; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861906 | 89861906 | | | NC_000015.9:g.89861906C>G | - | | |
NM_002693.3(POLG):c.3347T>G (p.Met1116Arg) | 5428 | POLG | Uncertain significance | 764036283 | RCV001880495; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861907 | 89861907 | | | 89861907 | - | | |
NM_002693.3(POLG):c.3346A>G (p.Met1116Val) | 5428 | POLG | Uncertain significance | 201144044 | RCV000188618|RCV000552872|RCV003230443; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374 | 15 | 89861908 | 89861908 | | | 15:g.89861908T>C | ClinGen:CA316766 | CN169374 not specified; | |
NM_002693.3(POLG):c.3339T>C (p.Leu1113=) | 5428 | POLG | Likely benign | 1458752535 | RCV002186833; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861915 | 89861915 | | | 89861915 | - | | |
NM_002693.3(POLG):c.3334A>T (p.Met1112Leu) | 5428 | POLG | Uncertain significance | 767168260 | RCV000373297|RCV001323466|RCV002261050; | N | MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89861920 | 89861920 | | | NC_000015.9:g.89861920T>A | ClinGen:CA7724160 | CN239393 POLG-Related Spectrum Disorders; | |
NM_002693.3(POLG):c.3333C>A (p.Leu1111=) | 5428 | POLG | Likely benign | -1 | RCV002861781; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861921 | 89861921 | | | | - | | |
NM_002693.3(POLG):c.3330C>T (p.His1110=) | 5428 | POLG | Likely benign | -1 | RCV003080108; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861924 | 89861924 | | | | - | | |
NM_002693.3(POLG):c.3327A>C (p.Leu1109Phe) | 5428 | POLG | Uncertain significance | 2152058767 | RCV002276390|RCV003096206; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861927 | 89861927 | | | 89861927 | - | | |
NM_002693.3(POLG):c.3325T>C (p.Leu1109=) | 5428 | POLG | Likely benign | 796052912 | RCV001397907; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861929 | 89861929 | | | 89861929 | - | | |
NM_002693.3(POLG):c.3320ACT[1] (p.Tyr1108del) | 5428 | POLG | Uncertain significance | -1 | RCV003064418; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861929 | 89861931 | | | NC_000015.9:g.89861929AGT[1] | - | | |
NM_002693.3(POLG):c.3324C>T (p.Tyr1108=) | 5428 | POLG | Likely benign | 1164797481 | RCV002207034; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861930 | 89861930 | | | 89861930 | - | | |
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe) | 5428 | POLG | Uncertain significance | 765949668 | RCV000188524|RCV000633541|RCV000768050|RCV002321760; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphan | 15 | 89861931 | 89861931 | | | 15:g.89861931T>A | ClinGen:CA316604 | CN169374 not specified; | |
NM_002693.3(POLG):c.3316G>T (p.Val1106Phe) | 5428 | POLG | Uncertain significance | 1567185212 | RCV000698610; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861938 | 89861938 | | | NC_000015.9:g.89861938C>A | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3311C>T (p.Ser1104Phe) | 5428 | POLG | Uncertain significance | -1 | RCV002622485|RCV003324040; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374 | 15 | 89861943 | 89861943 | | | NC_000015.9:g.89861943G>A | - | | |
NM_002693.3(POLG):c.3306G>C (p.Gln1102His) | 5428 | POLG | Uncertain significance | 1336274767 | RCV000758471; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861948 | 89861948 | | | NC_000015.9:g.89861948C>G | - | | |
NM_002693.3(POLG):c.3306G>T (p.Gln1102His) | 5428 | POLG | Uncertain significance | 1336274767 | RCV001317619; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861948 | 89861948 | | | 89861948 | - | | |
NM_002693.3(POLG):c.3305A>C (p.Gln1102Pro) | 5428 | POLG | Uncertain significance | -1 | RCV002617170; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861949 | 89861949 | | | NC_000015.9:g.89861949T>G | - | | |
NM_002693.3(POLG):c.3303A>C (p.Val1101=) | 5428 | POLG | Likely benign | 540638961 | RCV001492663|RCV001816006|RCV002324093; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 89861951 | 89861951 | | | 89861951 | - | | |
NM_002693.3(POLG):c.3303A>T (p.Val1101=) | 5428 | POLG | Likely benign | -1 | RCV003095745; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861951 | 89861951 | | | | - | | |
NM_002693.3(POLG):c.3301G>A (p.Val1101Ile) | 5428 | POLG | Uncertain significance | -1 | RCV002636450; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861953 | 89861953 | | | NC_000015.9:g.89861953C>T | - | | |
NM_002693.3(POLG):c.3298G>A (p.Val1100Met) | 5428 | POLG | Uncertain significance | 1567185242 | RCV000758470; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861956 | 89861956 | | | NC_000015.9:g.89861956C>T | - | | |
NM_002693.3(POLG):c.3294T>C (p.Asn1098=) | 5428 | POLG | Uncertain significance | 374224714 | RCV000127536|RCV000758383|RCV001171905|RCV001526405; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380 | 15 | 89861960 | 89861960 | | | NC_000015.9:g.89861960A>G | ClinGen:CA292843 | CN169374 not specified; | |
NM_002693.3(POLG):c.3293A>T (p.Asn1098Ile) | 5428 | POLG | Uncertain significance | 587780421 | RCV000758469; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861961 | 89861961 | | | NC_000015.9:g.89861961T>A | - | | |
NM_002693.3(POLG):c.3290T>A (p.Val1097Glu) | 5428 | POLG | Uncertain significance | -1 | RCV002810566; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861964 | 89861964 | | | NC_000015.9:g.89861964A>T | - | | |
NM_002693.3(POLG):c.3287G>A (p.Arg1096His) | 5428 | POLG | Conflicting interpretations of pathogenicity | 368435864 | RCV000188614|RCV000551933|RCV002314742; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89861967 | 89861967 | | | 15:g.89861967C>T | ClinGen:CA316758,UniProtKB:P54098#VAR_058894 | CN517202 not provided; | |
NM_002693.3(POLG):c.3282C>G (p.Thr1094=) | 5428 | POLG | Likely benign | 773093823 | RCV000864555|RCV001704545|RCV002446747; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 15 | 89861972 | 89861972 | | | 15:g.89861972G>C | ClinGen:CA7724172 | CN169374 not specified; | |
NM_002693.3(POLG):c.3281C>T (p.Thr1094Ile) | 5428 | POLG | Uncertain significance | -1 | RCV003058168; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861973 | 89861973 | | | NC_000015.9:g.89861973G>A | - | | |
NM_002693.3(POLG):c.3279G>A (p.Met1093Ile) | 5428 | POLG | Uncertain significance | 1238487198 | RCV000703419; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861975 | 89861975 | | | NC_000015.9:g.89861975C>T | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3277A>G (p.Met1093Val) | 5428 | POLG | Uncertain significance | -1 | RCV002904057; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861977 | 89861977 | | | NC_000015.9:g.89861977T>C | - | | |
NM_002693.3(POLG):c.3276T>G (p.Phe1092Leu) | 5428 | POLG | Uncertain significance | 74034411 | RCV001927229; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861978 | 89861978 | | | 89861978 | - | | |
NM_002693.3(POLG):c.3274-4C>T | 5428 | POLG | Conflicting interpretations of pathogenicity | 760343963 | RCV000603463|RCV000861872|RCV002317370; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89861984 | 89861984 | | | 15:g.89861984G>A | ClinGen:CA7724173 | CN169374 not specified; | |
NM_002693.3(POLG):c.3274-8C>T | 5428 | POLG | Likely benign | 1184674847 | RCV001464831|RCV002501320; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89861988 | 89861988 | | | 15:g.89861988G>A | - | | |
NM_002693.3(POLG):c.3274-18C>T | 5428 | POLG | Likely benign | 1279986380 | RCV002184959; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861998 | 89861998 | | | 89861998 | - | | |
NM_002693.3(POLG):c.3274-19G>A | 5428 | POLG | Benign/Likely benign | 116925016 | RCV000127535|RCV000758548; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89861999 | 89861999 | | | NC_000015.9:g.89861999C>T | ClinGen:CA292842 | CN169374 not specified; | |
NM_002693.3(POLG):c.3274-47G>A | 5428 | POLG | Likely benign | 1567185324 | RCV000758382; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862027 | 89862027 | | | NC_000015.9:g.89862027C>T | - | | |
NM_002693.3(POLG):c.3273+34G>A | 5428 | POLG | Likely benign | 1567185382 | RCV000758381; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862128 | 89862128 | | | NC_000015.9:g.89862128C>T | - | | |
NM_002693.3(POLG):c.3273+28A>C | 5428 | POLG | Likely benign | 371425871 | RCV000758380; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862134 | 89862134 | | | NC_000015.9:g.89862134T>G | - | | |
NM_002693.3(POLG):c.3273+20G>A | 5428 | POLG | Likely benign | 2055350373 | RCV002167891; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862142 | 89862142 | | | 89862142 | - | | |
NM_002693.3(POLG):c.3273+19A>G | 5428 | POLG | Likely benign | 376643556 | RCV002118511; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862143 | 89862143 | | | 89862143 | - | | |
NM_002693.3(POLG):c.3273+17G>A | 5428 | POLG | Conflicting interpretations of pathogenicity | 368578878 | RCV001905637|RCV002482668; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89862145 | 89862145 | | | 89862145 | - | | |
NM_002693.3(POLG):c.3273+8G>A | 5428 | POLG | Conflicting interpretations of pathogenicity | 776468044 | RCV000758468; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862154 | 89862154 | | | NC_000015.9:g.89862154C>T | - | | |
NM_002693.3(POLG):c.3273+7T>A | 5428 | POLG | Likely benign | 1399265188 | RCV001476008; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862155 | 89862155 | | | 15:g.89862155A>T | - | | |
NM_002693.3(POLG):c.3273+3_3273+6dup | 5428 | POLG | Likely benign | 2152059202 | RCV002101457; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862155 | 89862156 | | | 89862155 | - | | |
NM_002693.3(POLG):c.3273+6T>A | 5428 | POLG | Conflicting interpretations of pathogenicity | 886051522 | RCV000281171|RCV000460872; | N | MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862156 | 89862156 | | | NC_000015.9:g.89862156A>T | ClinGen:CA10602323 | CN239393 POLG-Related Spectrum Disorders; | |
NM_002693.3(POLG):c.3268G>A (p.Glu1090Lys) | 5428 | POLG | Uncertain significance | 759284625 | RCV001044057|RCV001664639; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89862167 | 89862167 | | | 15:g.89862167C>T | - | | |
NM_002693.3(POLG):c.3266A>G (p.Gln1089Arg) | 5428 | POLG | Uncertain significance | 369716454 | RCV000758467|RCV000992688; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89862169 | 89862169 | | | NC_000015.9:g.89862169T>C | - | | |
NM_002693.3(POLG):c.3259G>A (p.Ala1087Thr) | 5428 | POLG | Uncertain significance | 752254929 | RCV001319022; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862176 | 89862176 | | | 89862176 | - | | |
NM_002693.3(POLG):c.3258G>A (p.Ser1086=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 763312940 | RCV000732872|RCV000758535; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862177 | 89862177 | | | NC_000015.9:g.89862177C>T | - | | |
NM_002693.3(POLG):c.3257C>T (p.Ser1086Leu) | 5428 | POLG | Uncertain significance | 373316463 | RCV000992687|RCV001305114; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862178 | 89862178 | | | 15:g.89862178G>A | - | | |
NM_002693.3(POLG):c.3247C>T (p.Leu1083=) | 5428 | POLG | Likely benign | 1349518194 | RCV001496486; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862188 | 89862188 | | | 89862188 | - | | |
NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1064794213 | RCV000485688|RCV000758326|RCV001266601; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89862192 | 89862193 | | | 15:g.89862192_89862193insCGG | ClinGen:CA10602263 | CN517202 not provided; | |
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln) | 5428 | POLG | Conflicting interpretations of pathogenicity | 140079523 | RCV000539421|RCV000735364|RCV000995412|RCV002448638; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|11 conditions|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 89862193 | 89862193 | | | 15:g.89862193C>T | ClinGen:CA7724198 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3239G>C (p.Ser1080Thr) | 5428 | POLG | Uncertain significance | 779956099 | RCV000188610|RCV001119318|RCV001526410|RCV001857635; | N | MedGen:C3661900|MedGen:C4763519|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862196 | 89862196 | | | 15:g.89862196C>G | ClinGen:CA316750 | CN169374 not specified; | |
NM_002693.3(POLG):c.3235A>C (p.Ile1079Leu) | 5428 | POLG | Uncertain significance | 756393846 | RCV000758325|RCV003326492; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89862200 | 89862200 | | | NC_000015.9:g.89862200T>G | - | | |
NM_002693.3(POLG):c.3229T>G (p.Cys1077Gly) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1567185468 | RCV000758324|RCV001121334; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519 | 15 | 89862206 | 89862206 | | | NC_000015.9:g.89862206A>C | - | | |
NM_002693.3(POLG):c.3228C>G (p.Gly1076=) | 5428 | POLG | Likely benign | 777893046 | RCV000758534; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862207 | 89862207 | | | NC_000015.9:g.89862207G>C | - | | |
NM_002693.3(POLG):c.3227G>A (p.Gly1076Asp) | 5428 | POLG | Uncertain significance | 1381291951 | RCV002540607|RCV001774701|RCV002506801; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|6 conditions | 15 | 89862208 | 89862208 | | | 89862208 | - | | |
NM_002693.3(POLG):c.3226G>C (p.Gly1076Arg) | 5428 | POLG | Uncertain significance | -1 | RCV002633925; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862209 | 89862209 | | | NC_000015.9:g.89862209C>G | - | | |
NM_002693.3(POLG):c.3222G>T (p.Val1074=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 746773616 | RCV000600336|RCV000734817|RCV000758533; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862213 | 89862213 | | | 15:g.89862213C>A | ClinGen:CA7724205 | CN169374 not specified; | |
NM_002693.3(POLG):c.3219G>A (p.Pro1073=) | 5428 | POLG | Likely benign | 770800532 | RCV001663442|RCV001859424; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862216 | 89862216 | | | 89862216 | - | | |
NM_002693.3(POLG):c.3219G>C (p.Pro1073=) | 5428 | POLG | Likely benign | -1 | RCV003107072; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862216 | 89862216 | | | | - | | |
NM_002693.3(POLG):c.3216C>G (p.Thr1072=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 146936870 | RCV000186651|RCV000697212|RCV000723849|RCV002321613; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 89862219 | 89862219 | | | NC_000015.9:g.89862219G>C | ClinGen:CA232561 | CN169374 not specified; | |
NM_002693.3(POLG):c.3215C>G (p.Thr1072Ser) | 5428 | POLG | Uncertain significance | 530757118 | RCV000188609|RCV000633539|RCV002478660|RCV002517884; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MeSH:D030342,MedGen:C0950123 | 15 | 89862220 | 89862220 | | | 15:g.89862220G>C | ClinGen:CA316748 | CN169374 not specified; | |
NM_002693.3(POLG):c.3215C>T (p.Thr1072Ile) | 5428 | POLG | Uncertain significance | -1 | RCV002726787; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862220 | 89862220 | | | NC_000015.9:g.89862220G>A | - | | |
NM_002693.3(POLG):c.3214A>T (p.Thr1072Ser) | 5428 | POLG | Uncertain significance | 1237483748 | RCV001873129; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862221 | 89862221 | | | 89862221 | - | | |
NM_002693.3(POLG):c.3212G>A (p.Arg1071His) | 5428 | POLG | Uncertain significance | 774851005 | RCV000188608|RCV001351446; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862223 | 89862223 | | | 15:g.89862223C>T | ClinGen:CA316746 | CN169374 not specified; | |
NM_002693.3(POLG):c.3206T>C (p.Ile1069Thr) | 5428 | POLG | Uncertain significance | -1 | RCV003027679; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862229 | 89862229 | | | NC_000015.9:g.89862229A>G | - | | |
NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu) | 5428 | POLG | Uncertain significance | 1057523186 | RCV000423533|RCV000758323|RCV000765237|RCV002313113|RCV003323537; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MeSH:D030342,MedGen:C0950123|MedGen:CN169374 | 15 | 89862231 | 89862231 | | | 15:g.89862231G>C | ClinGen:CA10602261 | CN169374 not specified; | |
NM_002693.3(POLG):c.3203A>C (p.Asp1068Ala) | 5428 | POLG | Uncertain significance | 774888597 | RCV001973197; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862232 | 89862232 | | | 89862232 | - | | |
NM_002693.3(POLG):c.3198G>A (p.Thr1066=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 61752780 | RCV000127533|RCV000338380|RCV000475971|RCV000676319|RCV001847753|RCV002312589; | N | MedGen: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:C0950123 | 15 | 89862237 | 89862237 | | | NC_000015.9:g.89862237C>T | ClinGen:CA292840 | CN517202 not provided; | |
NM_002693.3(POLG):c.3195T>C (p.Ala1065=) | 5428 | POLG | Likely benign | 756235228 | RCV001479565; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862240 | 89862240 | | | 15:g.89862240A>G | ClinGen:CA7724212 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3188G>A (p.Ser1063Asn) | 5428 | POLG | Uncertain significance | -1 | RCV003064878; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862247 | 89862247 | | | NC_000015.9:g.89862247C>T | - | | |
NM_002693.3(POLG):c.3180G>A (p.Lys1060=) | 5428 | POLG | Likely benign | -1 | RCV002700331; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862255 | 89862255 | | | | - | | |
NM_002693.3(POLG):c.3178A>G (p.Lys1060Glu) | 5428 | POLG | Uncertain significance | 1444338482 | RCV002016475; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862257 | 89862257 | | | 89862257 | - | | |
NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) | 5428 | POLG | Uncertain significance | 201192905 | RCV000188605|RCV000633540|RCV000723977|RCV000765238|RCV001121335; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|6 conditions|MedGen:C4763519 | 15 | 89862259 | 89862259 | | | 15:g.89862259T>C | ClinGen:CA241931 | CN169374 not specified; | |
NM_002693.3(POLG):c.3176A>T (p.Asn1059Ile) | 5428 | POLG | Uncertain significance | 201192905 | RCV000188606|RCV000693468; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862259 | 89862259 | | | 15:g.89862259T>A | ClinGen:CA316742 | CN169374 not specified; | |
NM_002693.3(POLG):c.3175A>G (p.Asn1059Asp) | 5428 | POLG | Uncertain significance | 2152059350 | RCV002027261|RCV003161262; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89862260 | 89862260 | | | 89862260 | - | | |
NM_002693.3(POLG):c.3173T>C (p.Phe1058Ser) | 5428 | POLG | Uncertain significance | 1555452561 | RCV001045067; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862262 | 89862262 | | | 15:g.89862262A>G | - | | |
NM_002693.3(POLG):c.3171G>A (p.Met1057Ile) | 5428 | POLG | Uncertain significance | 2152059356 | RCV001875280; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862264 | 89862264 | | | 89862264 | - | | |
NM_002693.3(POLG):c.3170T>C (p.Met1057Thr) | 5428 | POLG | Uncertain significance | 966144250 | RCV000758322; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862265 | 89862265 | | | NC_000015.9:g.89862265A>G | - | | |
NM_002693.3(POLG):c.3168A>G (p.Glu1056=) | 5428 | POLG | Likely benign | 2152059363 | RCV002121134; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862267 | 89862267 | | | 89862267 | - | | |
NM_002693.3(POLG):c.3167A>C (p.Glu1056Ala) | 5428 | POLG | Conflicting interpretations of pathogenicity | 768571276 | RCV000188522|RCV002517882; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862268 | 89862268 | | | 15:g.89862268T>G | ClinGen:CA316600 | CN169374 not specified; | |
NM_002693.3(POLG):c.3165A>G (p.Ser1055=) | 5428 | POLG | Likely benign | -1 | RCV003027680; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862270 | 89862270 | | | | - | | |
NM_002693.3(POLG):c.3162G>A (p.Glu1054=) | 5428 | POLG | Likely benign | 757263896 | RCV001427097; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862273 | 89862273 | | | 89862273 | - | | |
NM_002693.3(POLG):c.3157A>G (p.Thr1053Ala) | 5428 | POLG | Uncertain significance | 2055353735 | RCV001206115; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862278 | 89862278 | | | 15:g.89862278T>C | - | | |
NM_002693.3(POLG):c.3155G>A (p.Gly1052Asp) | 5428 | POLG | Uncertain significance | 769328030 | RCV000757679|RCV001855898; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862280 | 89862280 | | | NC_000015.9:g.89862280C>T | - | | |
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) | 5428 | POLG | Conflicting interpretations of pathogenicity | 121918049 | RCV000014455|RCV000188604|RCV000226986|RCV000778451|RCV001252354|RCV002251905; | N | MONDO: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: | 15 | 89862284 | 89862284 | | | 15:g.89862284C>G | ClinGen:CA256893,UniProtKB:P54098#VAR_023684,OMIM:174763.0010 | CN517202 not provided; | |
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp) | 5428 | POLG | Conflicting interpretations of pathogenicity | 121918049 | RCV001121336|RCV001856597|RCV002491375|RCV002466625|RCV003322852; | N | MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MedGen:CN517202 | 15 | 89862284 | 89862284 | | | 15:g.89862284C>A | - | | |
NM_002693.3(POLG):c.3150G>T (p.Lys1050Asn) | 5428 | POLG | Uncertain significance | 1254460454 | RCV001211321; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862285 | 89862285 | | | 15:g.89862285C>A | - | | |
NM_002693.3(POLG):c.3150G>C (p.Lys1050Asn) | 5428 | POLG | Uncertain significance | -1 | RCV002302158; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862285 | 89862285 | | | 89862285 | - | | |
NM_002693.3(POLG):c.3145T>C (p.Trp1049Arg) | 5428 | POLG | Uncertain significance | -1 | RCV002296488; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862290 | 89862290 | | | 89862290 | - | | |
NM_002693.3(POLG):c.3143C>T (p.Ala1048Val) | 5428 | POLG | Uncertain significance | 1483830740 | RCV001934345; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862292 | 89862292 | | | 89862292 | - | | |
NM_002693.3(POLG):c.3142G>T (p.Ala1048Ser) | 5428 | POLG | Uncertain significance | 762244296 | RCV001880668; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862293 | 89862293 | | | 89862293 | - | | |
NM_002693.3(POLG):c.3140G>A (p.Arg1047Gln) | 5428 | POLG | Uncertain significance | 768028281 | RCV000524094|RCV001857942; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862295 | 89862295 | | | 15:g.89862295C>T | ClinGen:CA7724225 | CN169374 not specified; | |
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) | 5428 | POLG | Conflicting interpretations of pathogenicity | 181860632 | RCV000188603|RCV000633548|RCV001808470|RCV002247605|RCV002317146; | N | MedGen: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:C0950123 | 15 | 89862296 | 89862296 | | | NC_000015.9:g.89862296G>A | ClinGen:CA316740 | CN517202 not provided; | |
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) | 5428 | POLG | Conflicting interpretations of pathogenicity | 150233690 | RCV000118016|RCV000234341|RCV000515366|RCV000678829|RCV000778452|RCV001847713|RCV002243762|RCV002272131|RCV002316314|RCV003330442; | N | MedGen: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|Med | 15 | 89862304 | 89862304 | | | 15:g.89862304A>G | ClinGen:CA231404 | C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; | |
NM_002693.3(POLG):c.3128T>C (p.Val1043Ala) | 5428 | POLG | Uncertain significance | 1309234992 | RCV002002128; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862307 | 89862307 | | | 89862307 | - | | |
NM_002693.3(POLG):c.3126G>A (p.Glu1042=) | 5428 | POLG | Likely benign | 766485086 | RCV000758532; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862309 | 89862309 | | | NC_000015.9:g.89862309C>T | - | | |
NM_002693.3(POLG):c.3121T>C (p.Trp1041Arg) | 5428 | POLG | Uncertain significance | 2055354733 | RCV001061017; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862314 | 89862314 | | | 15:g.89862314A>G | - | | |
NM_002693.3(POLG):c.3120G>C (p.Lys1040Asn) | 5428 | POLG | Uncertain significance | 754039113 | RCV001121337|RCV002286812|RCV002556611; | N | MedGen:C4763519|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862315 | 89862315 | | | 15:g.89862315C>G | - | | |
NM_002693.3(POLG):c.3120G>A (p.Lys1040=) | 5428 | POLG | Likely benign | 754039113 | RCV001479798; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862315 | 89862315 | | | 89862315 | - | | |
NM_002693.3(POLG):c.3115A>G (p.Lys1039Glu) | 5428 | POLG | Uncertain significance | 2152059459 | RCV001892703; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862320 | 89862320 | | | 89862320 | - | | |
NM_002693.3(POLG):c.3107C>T (p.Ser1036Leu) | 5428 | POLG | Uncertain significance | 2055354896 | RCV001940775|RCV003235627; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89862328 | 89862328 | | | 89862328 | - | | |
NM_002693.3(POLG):c.3105-5C>T | 5428 | POLG | Likely benign | 759708686 | RCV000430974|RCV001458963; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862335 | 89862335 | | | 15:g.89862335G>A | ClinGen:CA7724228 | CN169374 not specified; | |
NM_002693.3(POLG):c.3105-6C>T | 5428 | POLG | Likely benign | 2055355030 | RCV001411313; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862336 | 89862336 | | | 89862336 | - | | |
NM_002693.3(POLG):c.3105-12_3105-11delinsTC | 5428 | POLG | Likely benign | 2152059497 | RCV002142199; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862341 | 89862342 | | | 89862341 | - | | |
NM_002693.3(POLG):c.3105-16_3105-15del | 5428 | POLG | Benign | 146915033 | RCV000188521|RCV001519997|RCV001706163; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89862345 | 89862346 | | | 15:g.89862345_89862346del | ClinGen:CA316599 | CN169374 not specified; | |
NM_002693.3(POLG):c.3105-18C>T | 5428 | POLG | Likely benign | 2152059518 | RCV002136643; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862348 | 89862348 | | | 89862348 | - | | |
NM_002693.3(POLG):c.3105-18C>G | 5428 | POLG | Likely benign | 2152059518 | RCV002127753; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862348 | 89862348 | | | 89862348 | - | | |
NM_002693.3(POLG):c.3105-19T>C | 5428 | POLG | Likely benign | 755986798 | RCV000758530|RCV000827183; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89862349 | 89862349 | | | NC_000015.9:g.89862349A>G | - | | |
NM_002693.3(POLG):c.3105-22C>T | 5428 | POLG | Likely benign | 199809987 | RCV000758531; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862352 | 89862352 | | | NC_000015.9:g.89862352G>A | - | | |
NM_002693.3(POLG):c.3105-36A>G | 5428 | POLG | Benign | 2246900 | RCV000758547|RCV001672951|RCV001789365|RCV001789366|RCV001789367|RCV001789368; | N | 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, Orphanet:254886|M | 15 | 89862366 | 89862366 | | | NC_000015.9:g.89862366T>C | - | | |
NM_002693.3(POLG):c.3104+64A>G | 5428 | POLG | Likely benign | 1567185722 | RCV000758412; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862395 | 89862395 | | | NC_000015.9:g.89862395T>C | - | | |
NM_002693.3(POLG):c.3104+50C>T | 5428 | POLG | Likely benign | 370764907 | RCV000758529; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862409 | 89862409 | | | NC_000015.9:g.89862409G>A | - | | |
NM_002693.3(POLG):c.3104+32G>A | 5428 | POLG | Likely benign | 200269242 | RCV000758528; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862427 | 89862427 | | | NC_000015.9:g.89862427C>T | - | | |
NM_002693.3(POLG):c.3104+27G>A | 5428 | POLG | Likely benign | 373628823 | RCV000758527; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862432 | 89862432 | | | NC_000015.9:g.89862432C>T | - | | |
NM_002693.3(POLG):c.3104+24G>C | 5428 | POLG | Likely benign | 201483942 | RCV000758526; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862435 | 89862435 | | | NC_000015.9:g.89862435C>G | - | | |
NM_002693.3(POLG):c.3104+12_3104+14del | 5428 | POLG | Likely benign | -1 | RCV002599158; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862445 | 89862447 | | | NC_000015.9:g.89862445AAG[1] | - | | |
NM_002693.3(POLG):c.3104+11T>A | 5428 | POLG | Likely benign | -1 | RCV002585628; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862448 | 89862448 | | | NC_000015.9:g.89862448A>T | - | | |
NM_002693.3(POLG):c.3104+9C>T | 5428 | POLG | Likely benign | 753591682 | RCV002155524; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862450 | 89862450 | | | 89862450 | - | | |
NM_002693.3(POLG):c.3104+8C>A | 5428 | POLG | Conflicting interpretations of pathogenicity | 754615624 | RCV000188520|RCV000526953|RCV000726786; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89862451 | 89862451 | | | 15:g.89862451G>T | ClinGen:CA316598 | CN169374 not specified; | |
NM_002693.3(POLG):c.3104A>G (p.Lys1035Arg) | 5428 | POLG | Uncertain significance | -1 | RCV003025054; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862459 | 89862459 | | | NC_000015.9:g.89862459T>C | - | | |
NM_002693.3(POLG):c.3101G>A (p.Arg1034Lys) | 5428 | POLG | Uncertain significance | 201014720 | RCV000493683|RCV000758321|RCV002323854; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89862462 | 89862462 | | | 15:g.89862462C>T | ClinGen:CA7724258 | CN169374 not specified; | |
NM_002693.3(POLG):c.3099A>G (p.Ala1033=) | 5428 | POLG | Likely benign | 1489505790 | RCV001411819; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862464 | 89862464 | | | 15:g.89862464T>C | - | | |
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) | 5428 | POLG | Conflicting interpretations of pathogenicity | 551708243 | RCV000551001|RCV000710186|RCV000765239|RCV001121338|RCV001332169; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|6 conditions|MedGen:C4763519|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886 | 15 | 89862465 | 89862465 | | | 15:g.89862465G>A | ClinGen:CA316596 | C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type; | |
NM_002693.3(POLG):c.3091G>C (p.Glu1031Gln) | 5428 | POLG | Uncertain significance | 2055358274 | RCV001205187; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862472 | 89862472 | | | 15:g.89862472C>G | - | | |
NM_002693.3(POLG):c.3090A>G (p.Arg1030=) | 5428 | POLG | Likely benign | 149429142 | RCV001457409; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862473 | 89862473 | | | 89862473 | - | | |
NM_002693.3(POLG):c.3082G>T (p.Val1028Phe) | 5428 | POLG | Uncertain significance | 2055358409 | RCV001316747; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862481 | 89862481 | | | 89862481 | - | | |
NM_002693.3(POLG):c.3077G>A (p.Arg1026His) | 5428 | POLG | Uncertain significance | 777038915 | RCV000188678|RCV000633553|RCV002485277; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89862486 | 89862486 | | | 15:g.89862486C>T | ClinGen:CA316863 | CN169374 not specified; | |
NM_002693.3(POLG):c.3075G>A (p.Leu1025=) | 5428 | POLG | Likely benign | 146404260 | RCV000230283|RCV000768051|RCV001705260; | N | 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:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:M | 15 | 89862488 | 89862488 | | | NC_000015.9:g.89862488C>T | ClinGen:CA7724261 | CN169374 not specified; | |
NM_002693.3(POLG):c.3073C>G (p.Leu1025Val) | 5428 | POLG | Uncertain significance | 1421324049 | RCV001230713; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862490 | 89862490 | | | 15:g.89862490G>C | - | | |
NM_002693.3(POLG):c.3068A>G (p.Gln1023Arg) | 5428 | POLG | Uncertain significance | 1364906906 | RCV001066059; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862495 | 89862495 | | | 15:g.89862495T>C | - | | |
NM_002693.3(POLG):c.3066G>A (p.Leu1022=) | 5428 | POLG | Likely benign | 2152059763 | RCV002131966; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862497 | 89862497 | | | 89862497 | - | | |
NM_002693.3(POLG):c.3064C>G (p.Leu1022Val) | 5428 | POLG | Uncertain significance | 2152059768 | RCV002033589; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862499 | 89862499 | | | 89862499 | - | | |
NM_002693.3(POLG):c.3062C>T (p.Ser1021Phe) | 5428 | POLG | Uncertain significance | 2055358674 | RCV001202164; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862501 | 89862501 | | | 15:g.89862501G>A | - | | |
NM_002693.3(POLG):c.3060T>A (p.Ile1020=) | 5428 | POLG | Likely benign | 2152059776 | RCV002134993; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862503 | 89862503 | | | 89862503 | - | | |
NM_002693.3(POLG):c.3054C>A (p.Gly1018=) | 5428 | POLG | Likely benign | -1 | RCV002746760; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862509 | 89862509 | | | | - | | |
NM_002693.3(POLG):c.3051T>C (p.Gly1017=) | 5428 | POLG | Likely benign | 1555452613 | RCV001401463; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862512 | 89862512 | | | NC_000015.9:g.89862512A>G | ClinGen:CA492072112 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3046G>A (p.Glu1016Lys) | 5428 | POLG | Uncertain significance | 763290547 | RCV000758319|RCV000712799; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89862517 | 89862517 | | | 15:g.89862517C>T | ClinGen:CA7724263 | CN169374 not specified; | |
NM_002693.3(POLG):c.3041G>A (p.Arg1014Lys) | 5428 | POLG | Uncertain significance | 1368475929 | RCV002016611|RCV002443050|RCV003332373; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:C3661900 | 15 | 89862522 | 89862522 | | | 89862522 | - | | |
NM_002693.3(POLG):c.3040A>G (p.Arg1014Gly) | 5428 | POLG | Uncertain significance | 764195223 | RCV000493268|RCV000758318; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862523 | 89862523 | | | 15:g.89862523T>C | ClinGen:CA7724264 | CN169374 not specified; | |
NM_002693.3(POLG):c.3037G>T (p.Asp1013Tyr) | 5428 | POLG | Uncertain significance | 1307399071 | RCV000497709|RCV000633536|RCV001332168; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886 | 15 | 89862526 | 89862526 | | | 15:g.89862526C>A | ClinGen:CA393751388 | CN169374 not specified; | |
NM_002693.3(POLG):c.3037G>A (p.Asp1013Asn) | 5428 | POLG | Uncertain significance | 1307399071 | RCV001952513; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862526 | 89862526 | | | 89862526 | - | | |
NM_002693.3(POLG):c.3036G>A (p.Val1012=) | 5428 | POLG | Likely benign | 965963320 | RCV002041215; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862527 | 89862527 | | | 89862527 | - | | |
NM_002693.3(POLG):c.3030C>T (p.Leu1010=) | 5428 | POLG | Likely benign | 760607209 | RCV001446514|RCV001703489; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89862533 | 89862533 | | | 15:g.89862533G>A | ClinGen:CA7724266 | CN169374 not specified; | |
NM_002693.3(POLG):c.3025A>T (p.Asn1009Tyr) | 5428 | POLG | Uncertain significance | 1567185808 | RCV000758317; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862538 | 89862538 | | | NC_000015.9:g.89862538T>A | - | | |
NM_002693.3(POLG):c.3024G>A (p.Leu1008=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 139488968 | RCV000733358|RCV001455433; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862539 | 89862539 | | | NC_000015.9:g.89862539C>T | - | | |
NM_002693.3(POLG):c.3017G>A (p.Arg1006Lys) | 5428 | POLG | Uncertain significance | 142732551 | RCV000188518|RCV000704540|RCV003401025; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726| | 15 | 89862546 | 89862546 | | | NC_000015.9:g.89862546C>T | ClinGen:CA316594 | CN169374 not specified; | |
NM_002693.3(POLG):c.3017G>C (p.Arg1006Thr) | 5428 | POLG | Uncertain significance | -1 | RCV002623340; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862546 | 89862546 | | | NC_000015.9:g.89862546C>G | - | | |
NM_002693.3(POLG):c.3015G>T (p.Val1005=) | 5428 | POLG | Likely benign | -1 | RCV003056310; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862548 | 89862548 | | | | - | | |
NM_002693.3(POLG):c.3013G>T (p.Val1005Leu) | 5428 | POLG | Uncertain significance | 2152059818 | RCV002033869; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862550 | 89862550 | | | 89862550 | - | | |
NM_002693.3(POLG):c.3012G>T (p.Leu1004=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 989355152 | RCV000734085|RCV002535364; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862551 | 89862551 | | | NC_000015.9:g.89862551C>A | - | | |
NM_002693.3(POLG):c.3009G>C (p.Trp1003Cys) | 5428 | POLG | Uncertain significance | 1064796455 | RCV000485857|RCV000633554; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862554 | 89862554 | | | 15:g.89862554C>G | ClinGen:CA16620020 | CN169374 not specified; | |
NM_002693.3(POLG):c.3006G>C (p.Glu1002Asp) | 5428 | POLG | Uncertain significance | 990343459 | RCV000691635|RCV001584565; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89862557 | 89862557 | | | NC_000015.9:g.89862557C>G | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.3006G>A (p.Glu1002=) | 5428 | POLG | Likely benign | 990343459 | RCV001442954; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862557 | 89862557 | | | 89862557 | - | | |
NM_002693.3(POLG):c.3004G>A (p.Glu1002Lys) | 5428 | POLG | Uncertain significance | 757987765 | RCV001066719; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862559 | 89862559 | | | 15:g.89862559C>T | - | | |
NM_002693.3(POLG):c.3003C>T (p.Gly1001=) | 5428 | POLG | Uncertain significance | 146064249 | RCV002034166; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862560 | 89862560 | | | 89862560 | - | | |
NM_002693.3(POLG):c.3001G>A (p.Gly1001Ser) | 5428 | POLG | Uncertain significance | 1469484812 | RCV001362250; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862562 | 89862562 | | | 89862562 | - | | |
NM_002693.3(POLG):c.2998G>A (p.Glu1000Lys) | 5428 | POLG | Uncertain significance | 1412887168 | RCV000758465|RCV002533817|RCV003128692; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 15 | 89862565 | 89862565 | | | NC_000015.9:g.89862565C>T | - | | |
NM_002693.3(POLG):c.2994G>C (p.Ser998=) | 5428 | POLG | Benign/Likely benign | 567030498 | RCV000286242|RCV000633571|RCV000712798|RCV001848063|RCV002436120; | N | MedGen: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 | 15 | 89862569 | 89862569 | | | 15:g.89862569C>G | ClinGen:CA7724281 | CN169374 not specified; | |
NM_002693.3(POLG):c.2994G>A (p.Ser998=) | 5428 | POLG | Uncertain significance | 567030498 | RCV001529991|RCV002568882; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862569 | 89862569 | | | 89862569 | - | | |
NM_002693.3(POLG):c.2993C>T (p.Ser998Leu) | 5428 | POLG | Uncertain significance | 79840247 | RCV001062695|RCV002553926; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89862570 | 89862570 | | | 15:g.89862570G>A | - | | |
NM_002693.3(POLG):c.2992T>C (p.Ser998Pro) | 5428 | POLG | Uncertain significance | 199810950 | RCV001900462; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862571 | 89862571 | | | 89862571 | - | | |
NM_002693.3(POLG):c.2987G>A (p.Arg996Gln) | 5428 | POLG | Uncertain significance | 770236576 | RCV000633551|RCV000730152|RCV002433851; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 15 | 89862576 | 89862576 | | | 15:g.89862576C>T | ClinGen:CA316732 | CN169374 not specified; | |
NM_002693.3(POLG):c.2986C>T (p.Arg996Trp) | 5428 | POLG | Uncertain significance | 202229893 | RCV000725947|RCV000800257; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862577 | 89862577 | | | 15:g.89862577G>A | ClinGen:CA316730 | CN169374 not specified; | |
NM_002693.3(POLG):c.2984A>G (p.Tyr995Cys) | 5428 | POLG | Uncertain significance | 749458217 | RCV000758464; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862579 | 89862579 | | | NC_000015.9:g.89862579T>C | - | | |
NM_002693.3(POLG):c.2982-3C>T | 5428 | POLG | Conflicting interpretations of pathogenicity | 538731397 | RCV000426083|RCV000525150; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862584 | 89862584 | | | 15:g.89862584G>A | ClinGen:CA7724285 | CN169374 not specified; | |
NM_002693.3(POLG):c.2982-7C>T | 5428 | POLG | Likely benign | 1230504949 | RCV001418188; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862588 | 89862588 | | | 89862588 | - | | |
NM_002693.3(POLG):c.2982-9T>G | 5428 | POLG | Conflicting interpretations of pathogenicity | 774707044 | RCV001358833|RCV001550432; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89862590 | 89862590 | | | 89862590 | - | | |
NM_002693.3(POLG):c.2982-10C>T | 5428 | POLG | Likely benign | 2152059869 | RCV001457929; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862591 | 89862591 | | | 89862591 | - | | |
NM_002693.3(POLG):c.2982-16A>G | 5428 | POLG | Likely benign | 1567185886 | RCV000758524; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862597 | 89862597 | | | NC_000015.9:g.89862597T>C | - | | |
NM_002693.3(POLG):c.2982-30G>A | 5428 | POLG | Benign | 76339822 | RCV000758559; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862611 | 89862611 | | | NC_000015.9:g.89862611C>T | - | | |
NM_002693.3(POLG):c.2982-31C>T | 5428 | POLG | Likely benign | 2307432 | RCV000758400; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862612 | 89862612 | | | NC_000015.9:g.89862612G>A | - | | |
NM_002693.3(POLG):c.2982-50G>A | 5428 | POLG | Likely benign | 752500882 | RCV000758525; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89862631 | 89862631 | | | NC_000015.9:g.89862631C>T | - | | |
NM_002693.3(POLG):c.2981+17C>T | 5428 | POLG | Likely benign | -1 | RCV002927324; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89863980 | 89863980 | | | NC_000015.9:g.89863980G>A | - | | |
NM_002693.3(POLG):c.2981+13C>G | 5428 | POLG | Likely benign | -1 | RCV003067191; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89863984 | 89863984 | | | NC_000015.9:g.89863984G>C | - | | |
NM_002693.3(POLG):c.2981+3G>A | 5428 | POLG | Uncertain significance | 769780988 | RCV001321567; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89863994 | 89863994 | | | 89863994 | - | | |
NM_002693.3(POLG):c.2978G>A (p.Arg993His) | 5428 | POLG | Uncertain significance | 546883829 | RCV000188595|RCV001314840; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864000 | 89864000 | | | NC_000015.9:g.89864000C>T | ClinGen:CA316727 | CN169374 not specified; | |
NM_002693.3(POLG):c.2977C>T (p.Arg993Cys) | 5428 | POLG | Uncertain significance | 551811489 | RCV000465502|RCV000732917|RCV002436394|RCV002481390; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|6 conditions | 15 | 89864001 | 89864001 | | | NC_000015.9:g.89864001G>A | ClinGen:CA7724314 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2964C>T (p.Ala988=) | 5428 | POLG | Likely benign | 565520786 | RCV002172925; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864014 | 89864014 | | | 89864014 | - | | |
NM_002693.3(POLG):c.2963C>T (p.Ala988Val) | 5428 | POLG | Uncertain significance | 1279049508 | RCV000695379; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864015 | 89864015 | | | NC_000015.9:g.89864015G>A | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2959G>A (p.Ala987Thr) | 5428 | POLG | Uncertain significance | 200258601 | RCV001063250|RCV001824411; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89864019 | 89864019 | | | 15:g.89864019C>T | - | | |
NM_002693.3(POLG):c.2951A>G (p.Gln984Arg) | 5428 | POLG | Uncertain significance | 1780095681 | RCV001757114|RCV001868463; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864027 | 89864027 | | | 89864027 | - | | |
NM_002693.3(POLG):c.2948A>T (p.Gln983Leu) | 5428 | POLG | Uncertain significance | 756679711 | RCV001040704; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864030 | 89864030 | | | 15:g.89864030T>A | - | | |
NM_002693.3(POLG):c.2946C>A (p.Ala982=) | 5428 | POLG | Likely benign | -1 | RCV002627116; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864032 | 89864032 | | | | - | | |
NM_002693.3(POLG):c.2944G>T (p.Ala982Ser) | 5428 | POLG | Uncertain significance | -1 | RCV002667251; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864034 | 89864034 | | | NC_000015.9:g.89864034C>A | - | | |
NM_002693.3(POLG):c.2939A>C (p.Glu980Ala) | 5428 | POLG | Uncertain significance | 754202777 | RCV000633547|RCV000712797|RCV001116416; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MedGen:C4763519 | 15 | 89864039 | 89864039 | | | NC_000015.9:g.89864039T>G | ClinGen:CA7724320 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2937T>C (p.Ala979=) | 5428 | POLG | Likely benign | 779363917 | RCV002210195; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864041 | 89864041 | | | 89864041 | - | | |
NM_002693.3(POLG):c.2935G>C (p.Ala979Pro) | 5428 | POLG | Uncertain significance | -1 | RCV002806744; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864043 | 89864043 | | | NC_000015.9:g.89864043C>G | - | | |
NM_002693.3(POLG):c.2931G>A (p.Glu977=) | 5428 | POLG | Likely benign | -1 | RCV002979690; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864047 | 89864047 | | | | - | | |
NM_002693.3(POLG):c.2928G>C (p.Gln976His) | 5428 | POLG | Uncertain significance | -1 | RCV002302882; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864050 | 89864050 | | | 89864050 | - | | |
NM_002693.3(POLG):c.2924A>G (p.Gln975Arg) | 5428 | POLG | Uncertain significance | 972611793 | RCV000796667; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864054 | 89864054 | | | 15:g.89864054T>C | - | | |
NM_002693.3(POLG):c.2915G>A (p.Arg972Gln) | 5428 | POLG | Uncertain significance | 200309005 | RCV000758463|RCV000727299; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89864063 | 89864063 | | | 15:g.89864063C>T | ClinGen:CA316725 | CN169374 not specified; | |
NM_002693.3(POLG):c.2914C>T (p.Arg972Trp) | 5428 | POLG | Uncertain significance | 762972003 | RCV000188593|RCV001053326; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864064 | 89864064 | | | NC_000015.9:g.89864064G>A | ClinGen:CA316723 | CN169374 not specified; | |
NM_002693.3(POLG):c.2913C>A (p.His971Gln) | 5428 | POLG | Uncertain significance | -1 | RCV003054028; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864065 | 89864065 | | | NC_000015.9:g.89864065G>T | - | | |
NM_002693.3(POLG):c.2911C>T (p.His971Tyr) | 5428 | POLG | Uncertain significance | -1 | RCV002676602; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864067 | 89864067 | | | NC_000015.9:g.89864067G>A | - | | |
NM_002693.3(POLG):c.2902C>A (p.Gln968Lys) | 5428 | POLG | Uncertain significance | -1 | RCV003054833; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864076 | 89864076 | | | NC_000015.9:g.89864076G>T | - | | |
NM_002693.3(POLG):c.2896C>T (p.Leu966=) | 5428 | POLG | Likely benign | 1187151579 | RCV000758523; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864082 | 89864082 | | | NC_000015.9:g.89864082G>A | - | | |
NM_002693.3(POLG):c.2891G>A (p.Arg964His) | 5428 | POLG | Uncertain significance | 767339769 | RCV002008786; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864087 | 89864087 | | | 89864087 | - | | |
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) | 5428 | POLG | Conflicting interpretations of pathogenicity | 201477273 | RCV000188591|RCV000490261|RCV000633558|RCV000984890|RCV001808469|RCV001847830|RCV002282023|RCV002247604|RCV002317145|RCV003232987; | N | MedGen: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,MedGe | 15 | 89864088 | 89864088 | | | 15:g.89864088G>A | ClinGen:CA316719 | C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type; | |
NM_002693.3(POLG):c.2889G>A (p.Glu963=) | 5428 | POLG | Likely benign | -1 | RCV003023824; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864089 | 89864089 | | | | - | | |
NM_002693.3(POLG):c.2885C>T (p.Ala962Val) | 5428 | POLG | Uncertain significance | -1 | RCV002705239; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864093 | 89864093 | | | NC_000015.9:g.89864093G>A | - | | |
NM_002693.3(POLG):c.2884G>A (p.Ala962Thr) | 5428 | POLG | Uncertain significance | 760305377 | RCV000731013|RCV001047525; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864094 | 89864094 | | | NC_000015.9:g.89864094C>T | - | | |
NM_002693.3(POLG):c.2883T>C (p.Phe961=) | 5428 | POLG | Likely benign | -1 | RCV002801527; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864095 | 89864095 | | | | - | | |
NM_002693.3(POLG):c.2880C>T (p.Pro960=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 752500492 | RCV000549125|RCV000727181|RCV001848746; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685 | 15 | 89864098 | 89864098 | | | 15:g.89864098G>A | ClinGen:CA7724332 | CN169374 not specified; | |
NM_002693.3(POLG):c.2878C>T (p.Pro960Ser) | 5428 | POLG | Conflicting interpretations of pathogenicity | 373298169 | RCV000730224|RCV001034291|RCV003420299; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726| | 15 | 89864100 | 89864100 | | | NC_000015.9:g.89864100G>A | - | | |
NM_002693.3(POLG):c.2874G>T (p.Gly958=) | 5428 | POLG | Likely benign | 1567186563 | RCV000758522; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864104 | 89864104 | | | NC_000015.9:g.89864104C>A | - | | |
NM_002693.3(POLG):c.2871T>C (p.Ala957=) | 5428 | POLG | Likely benign | 376459207 | RCV001398563; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864107 | 89864107 | | | 89864107 | - | | |
NM_002693.3(POLG):c.2865T>C (p.Tyr955=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1567186574 | RCV000730202|RCV003106041; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864113 | 89864113 | | | NC_000015.9:g.89864113A>G | - | | |
NM_002693.3(POLG):c.2861T>C (p.Ile954Thr) | 5428 | POLG | Uncertain significance | 2152060969 | RCV001909998; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864117 | 89864117 | | | 89864117 | - | | |
NM_002693.3(POLG):c.2860A>G (p.Ile954Val) | 5428 | POLG | Uncertain significance | 778008501 | RCV001971546; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864118 | 89864118 | | | 89864118 | - | | |
NM_002693.3(POLG):c.2858G>A (p.Arg953His) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1567186581 | RCV000758462; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864120 | 89864120 | | | NC_000015.9:g.89864120C>T | - | | |
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) | 5428 | POLG | Conflicting interpretations of pathogenicity | 11546842 | RCV000175301|RCV000758266|RCV001808449|RCV003323426; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MedGen:C4763519 | 15 | 89864121 | 89864121 | | | 15:g.89864121G>A | ClinGen:CA241026,UniProtKB:P54098#VAR_023681 | CN169374 not specified; | |
NM_002693.3(POLG):c.2854G>A (p.Gly952Ser) | 5428 | POLG | Conflicting interpretations of pathogenicity | 531744363 | RCV000758461; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864124 | 89864124 | | | NC_000015.9:g.89864124C>T | - | | |
NM_002693.3(POLG):c.2853C>T (p.Tyr951=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 41546712 | RCV000186650|RCV000471041|RCV000712796|RCV001116417|RCV001847751|RCV002316396; | N | MedGen: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:C0950123 | 15 | 89864125 | 89864125 | | | NC_000015.9:g.89864125G>A | ClinGen:CA232559 | CN169374 not specified; | |
NM_002693.3(POLG):c.2845_2847del (p.Phe949del) | 5428 | POLG | Uncertain significance | 1567186596 | RCV000758314; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864131 | 89864133 | | | NC_000015.9:g.89864133_89864135del | - | | |
NM_002693.3(POLG):c.2839A>G (p.Lys947Glu) | 5428 | POLG | Uncertain significance | 2152060982 | RCV001944144; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864139 | 89864139 | | | 89864139 | - | | |
NM_002693.3(POLG):c.2834A>T (p.His945Leu) | 5428 | POLG | Uncertain significance | -1 | RCV003064292; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864144 | 89864144 | | | NC_000015.9:g.89864144T>A | - | | |
NM_002693.3(POLG):c.2830G>A (p.Glu944Lys) | 5428 | POLG | Uncertain significance | 768653086 | RCV000188589|RCV000633532|RCV001116418|RCV002433850; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MeSH:D030342,MedGen:C0950123 | 15 | 89864148 | 89864148 | | | 15:g.89864148C>T | ClinGen:CA316715 | CN517202 not provided; | |
NM_002693.3(POLG):c.2829T>C (p.Arg943=) | 5428 | POLG | Likely benign | 774005462 | RCV001416519|RCV001569620; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89864149 | 89864149 | | | 89864149 | - | | |
NM_002693.3(POLG):c.2827_2828insTCA (p.Arg943delinsLeuSer) | 5428 | POLG | Conflicting interpretations of pathogenicity | 2152060994 | RCV001562575|RCV002573176; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864150 | 89864151 | | | 89864150 | - | | |
NM_002693.3(POLG):c.2823C>A (p.Ile941=) | 5428 | POLG | Likely benign | 1351580439 | RCV002213119; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864155 | 89864155 | | | 89864155 | - | | |
NM_002693.3(POLG):c.2820C>T (p.Gly940=) | 5428 | POLG | Likely benign | 571319491 | RCV001346750; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864158 | 89864158 | | | 89864158 | - | | |
NM_002693.3(POLG):c.2815G>A (p.Val939Met) | 5428 | POLG | Uncertain significance | 748045254 | RCV000463058|RCV001764376; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89864163 | 89864163 | | | NC_000015.9:g.89864163C>T | ClinGen:CA7724342 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2814T>C (p.Thr938=) | 5428 | POLG | Likely benign | 771822843 | RCV000427979|RCV000758379; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864164 | 89864164 | | | 15:g.89864164A>G | ClinGen:CA7724343 | CN169374 not specified; | |
NM_002693.3(POLG):c.2808C>G (p.Ala936=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1370721886 | RCV000593313|RCV001474476; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864170 | 89864170 | | | 15:g.89864170G>C | ClinGen:CA492289048 | CN169374 not specified; | |
NM_002693.3(POLG):c.2803A>T (p.Thr935Ser) | 5428 | POLG | Uncertain significance | 760431841 | RCV002926968; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864175 | 89864175 | | | NC_000015.9:g.89864175T>A | - | | |
NM_002693.3(POLG):c.2802G>A (p.Lys934=) | 5428 | POLG | Likely benign | -1 | RCV003049100; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864176 | 89864176 | | | | - | | |
NM_002693.3(POLG):c.2799T>C (p.Ser933=) | 5428 | POLG | Likely benign | 765916932 | RCV001466708; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864179 | 89864179 | | | 89864179 | - | | |
NM_002693.3(POLG):c.2791C>A (p.Leu931Ile) | 5428 | POLG | Uncertain significance | 1567186644 | RCV000758458; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864187 | 89864187 | | | NC_000015.9:g.89864187G>T | - | | |
NM_002693.3(POLG):c.2782G>A (p.Gly928Ser) | 5428 | POLG | Uncertain significance | 759944038 | RCV001372626|RCV003399183; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89864196 | 89864196 | | | 89864196 | - | | |
NM_002693.3(POLG):c.2782G>T (p.Gly928Cys) | 5428 | POLG | Uncertain significance | -1 | RCV002628114; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864196 | 89864196 | | | NC_000015.9:g.89864196C>A | - | | |
NM_002693.3(POLG):c.2778C>G (p.Ser926Arg) | 5428 | POLG | Uncertain significance | 1347519358 | RCV001343612; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864200 | 89864200 | | | 89864200 | - | | |
NM_002693.3(POLG):c.2777G>A (p.Ser926Asn) | 5428 | POLG | Uncertain significance | 752971760 | RCV001332167; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864201 | 89864201 | | | 89864201 | - | | |
NM_002693.3(POLG):c.2762T>C (p.Leu921Pro) | 5428 | POLG | Uncertain significance | 2152061053 | RCV001864112; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864216 | 89864216 | | | 89864216 | - | | |
NM_002693.3(POLG):c.2761C>A (p.Leu921Met) | 5428 | POLG | Uncertain significance | -1 | RCV002750294; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864217 | 89864217 | | | NC_000015.9:g.89864217G>T | - | | |
NM_002693.3(POLG):c.2751G>T (p.Gly917=) | 5428 | POLG | Likely benign | 2152061065 | RCV001472933; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864227 | 89864227 | | | 89864227 | - | | |
NM_002693.3(POLG):c.2743G>A (p.Ala915Thr) | 5428 | POLG | Uncertain significance | -1 | RCV002475512|RCV002569409; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864235 | 89864235 | | | NC_000015.9:g.89864235C>T | - | | |
NM_002693.3(POLG):c.2735-4C>G | 5428 | POLG | Likely benign | 1417499460 | RCV001462233; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864247 | 89864247 | | | 15:g.89864247G>C | - | | |
NM_002693.3(POLG):c.2735-7C>G | 5428 | POLG | Conflicting interpretations of pathogenicity | 200372494 | RCV000127528|RCV000463735|RCV000658724|RCV001116419; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MedGen:C4763519 | 15 | 89864250 | 89864250 | | | NC_000015.9:g.89864250G>C | ClinGen:CA292837 | CN517202 not provided; | |
NM_002693.3(POLG):c.2735-7C>T | 5428 | POLG | Likely benign | -1 | RCV002596907; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864250 | 89864250 | | | NC_000015.9:g.89864250G>A | - | | |
NM_002693.3(POLG):c.2735-12C>T | 5428 | POLG | Likely benign | -1 | RCV002609891; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864255 | 89864255 | | | NC_000015.9:g.89864255G>A | - | | |
NM_002693.3(POLG):c.2735-15C>T | 5428 | POLG | Benign | 41544115 | RCV000127527|RCV000758399; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864258 | 89864258 | | | NC_000015.9:g.89864258G>A | ClinGen:CA292836 | CN169374 not specified; | |
NM_002693.3(POLG):c.2735-15C>A | 5428 | POLG | Likely benign | -1 | RCV002603091; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864258 | 89864258 | | | NC_000015.9:g.89864258G>T | - | | |
NM_002693.3(POLG):c.2735-20C>G | 5428 | POLG | Likely benign | 2055387848 | RCV002182159; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864263 | 89864263 | | | 89864263 | - | | |
NM_002693.3(POLG):c.2735-42A>G | 5428 | POLG | Likely benign | 1258121070 | RCV000758378; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864285 | 89864285 | | | NC_000015.9:g.89864285T>C | - | | |
NM_002693.3(POLG):c.2734+39_2734+40insAGGT | 5428 | POLG | Benign | 2307433 | RCV000758398|RCV001619836; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89864316 | 89864317 | | | NC_000015.9:g.89864318_89864319insACCT | - | | |
NM_002693.3:c.2734+39_2734+40insAGGT | 5428 | POLG | Benign | 2152061162 | RCV001789576|RCV001789577|RCV001789573|RCV001789575|RCV001789574; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MOND | 15 | 89864316 | 89864317 | | | 89864316 | - | | |
NM_002693.3(POLG):c.2734+15G>A | 5428 | POLG | Likely benign | 1348282253 | RCV002149662; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864341 | 89864341 | | | 89864341 | - | | |
NM_002693.3(POLG):c.2734+14G>A | 5428 | POLG | Likely benign | -1 | RCV003086188; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864342 | 89864342 | | | NC_000015.9:g.89864342C>T | - | | |
NM_002693.3(POLG):c.2734+14G>T | 5428 | POLG | Likely benign | -1 | RCV002949091; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864342 | 89864342 | | | NC_000015.9:g.89864342C>A | - | | |
NM_002693.3(POLG):c.2734+13C>T | 5428 | POLG | Likely benign | 756271228 | RCV002160320; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864343 | 89864343 | | | 89864343 | - | | |
NM_002693.3(POLG):c.2734+7A>C | 5428 | POLG | Likely benign | 780023979 | RCV001492342; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864349 | 89864349 | | | 15:g.89864349T>G | - | | |
NM_002693.3(POLG):c.2734+3G>A | 5428 | POLG | Uncertain significance | 2055389780 | RCV001224718; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864353 | 89864353 | | | 15:g.89864353C>T | - | | |
NM_002693.3(POLG):c.2728A>G (p.Met910Val) | 5428 | POLG | Uncertain significance | 1260783813 | RCV001338105; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864362 | 89864362 | | | 89864362 | - | | |
NM_002693.3(POLG):c.2727C>T (p.Gly909=) | 5428 | POLG | Uncertain significance | 752611524 | RCV000428928|RCV000459424; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864363 | 89864363 | | | 15:g.89864363G>A | ClinGen:CA7724377 | CN169374 not specified; | |
NM_002693.3(POLG):c.2725G>A (p.Gly909Ser) | 5428 | POLG | Uncertain significance | 758419140 | RCV001287898|RCV001871700; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864365 | 89864365 | | | 89864365 | - | | |
NM_002693.3(POLG):c.2724C>T (p.Ala908=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 377390914 | RCV000188516|RCV000676322|RCV001080845|RCV001116420|RCV002453613; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MeSH:D030342,MedGen:C0950123 | 15 | 89864366 | 89864366 | | | 15:g.89864366G>A | ClinGen:CA240872 | CN517202 not provided; | |
NM_002693.3(POLG):c.2721T>C (p.Phe907=) | 5428 | POLG | Likely benign | 746863564 | RCV001725903|RCV002538692; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864369 | 89864369 | | | 89864369 | - | | |
NM_002693.3(POLG):c.2715C>A (p.Ala905=) | 5428 | POLG | Likely benign | -1 | RCV002612323; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864375 | 89864375 | | | | - | | |
NM_002693.3(POLG):c.2713G>A (p.Ala905Thr) | 5428 | POLG | Uncertain significance | 747156457 | RCV001890105; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864377 | 89864377 | | | 89864377 | - | | |
NM_002693.3(POLG):c.2712C>G (p.Asp904Glu) | 5428 | POLG | Uncertain significance | 770458126 | RCV000536625; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864378 | 89864378 | | | 15:g.89864378G>C | ClinGen:CA393753525 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2712C>T (p.Asp904=) | 5428 | POLG | Likely benign | -1 | RCV002606220; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864378 | 89864378 | | | | - | | |
NM_002693.3(POLG):c.2704C>G (p.Leu902Val) | 5428 | POLG | Uncertain significance | 745528696 | RCV000728575|RCV001052151|RCV002485861|RCV002535079; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MeSH:D030342,MedGen:C0950123 | 15 | 89864386 | 89864386 | | | NC_000015.9:g.89864386G>C | - | | |
NM_002693.3(POLG):c.2703G>A (p.Val901=) | 5428 | POLG | Likely benign | -1 | RCV002609854; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864387 | 89864387 | | | | - | | |
NM_002693.3(POLG):c.2688G>A (p.Leu896=) | 5428 | POLG | Likely benign | 769306875 | RCV000758377; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864402 | 89864402 | | | NC_000015.9:g.89864402C>T | - | | |
NM_002693.3(POLG):c.2687T>C (p.Leu896Pro) | 5428 | POLG | Uncertain significance | -1 | RCV002824813; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864403 | 89864403 | | | NC_000015.9:g.89864403A>G | - | | |
NM_002693.3(POLG):c.2686C>G (p.Leu896Val) | 5428 | POLG | Uncertain significance | -1 | RCV003095687; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864404 | 89864404 | | | NC_000015.9:g.89864404G>C | - | | |
NM_002693.3(POLG):c.2682A>G (p.Gln894=) | 5428 | POLG | Likely benign | 1212288449 | RCV001929964; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864408 | 89864408 | | | 89864408 | - | | |
NM_002693.3(POLG):c.2681A>C (p.Gln894Pro) | 5428 | POLG | Uncertain significance | 2152061241 | RCV002265113|RCV003095984; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864409 | 89864409 | | | 89864409 | - | | |
NM_002693.3(POLG):c.2676C>T (p.Asp892=) | 5428 | POLG | Likely benign | -1 | RCV002816022; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864414 | 89864414 | | | | - | | |
NM_002693.3(POLG):c.2673G>C (p.Val891=) | 5428 | POLG | Likely benign | 2152061246 | RCV001478844; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864417 | 89864417 | | | 89864417 | - | | |
NM_002693.3(POLG):c.2668G>C (p.Asp890His) | 5428 | POLG | Uncertain significance | -1 | RCV002629015; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864422 | 89864422 | | | NC_000015.9:g.89864422C>G | - | | |
NM_002693.3(POLG):c.2667T>C (p.Ala889=) | 5428 | POLG | Likely benign | -1 | RCV002866519; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864423 | 89864423 | | | | - | | |
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr) | 5428 | POLG | Conflicting interpretations of pathogenicity | 763393580 | RCV000518474|RCV000695266|RCV000844909|RCV002438244; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN180166|MeSH:D030342,MedGen:C0950123 | 15 | 89864425 | 89864425 | | | 15:g.89864425C>T | ClinGen:CA7724385 | CN517202 not provided; | |
NM_002693.3(POLG):c.2663G>A (p.Gly888Asp) | 5428 | POLG | Conflicting interpretations of pathogenicity | 878854560 | RCV000227514; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864427 | 89864427 | | | NC_000015.9:g.89864427C>T | ClinGen:CA10583269 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2654C>T (p.Thr885Ile) | 5428 | POLG | Uncertain significance | 1224799376 | RCV000758313; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864436 | 89864436 | | | NC_000015.9:g.89864436G>A | - | | |
NM_002693.3(POLG):c.2654C>G (p.Thr885Ser) | 5428 | POLG | Uncertain significance | 1224799376 | RCV000798129; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864436 | 89864436 | | | 15:g.89864436G>C | - | | |
NM_002693.3(POLG):c.2653A>G (p.Thr885Ala) | 5428 | POLG | Uncertain significance | 1312677626 | RCV000733328|RCV002536496; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864437 | 89864437 | | | NC_000015.9:g.89864437T>C | - | | |
NM_002693.3(POLG):c.2652C>T (p.Tyr884=) | 5428 | POLG | Likely benign | -1 | RCV002785806; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864438 | 89864438 | | | | - | | |
NM_002693.3(POLG):c.2651A>G (p.Tyr884Cys) | 5428 | POLG | Uncertain significance | 1057519140 | RCV000415811|RCV001851009; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864439 | 89864439 | | | 15:g.89864439T>C | ClinGen:CA16043779 | CN517202 not provided; | |
NM_002693.3(POLG):c.2642C>T (p.Pro881Leu) | 5428 | POLG | Conflicting interpretations of pathogenicity | 375935084 | RCV000690021|RCV000734714|RCV001117864; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MedGen:C4763519 | 15 | 89864448 | 89864448 | | | 15:g.89864448G>A | ClinGen:CA316861 | CN169374 not specified; | |
NM_002693.3(POLG):c.2641C>T (p.Pro881Ser) | 5428 | POLG | Uncertain significance | -1 | RCV002670996; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864449 | 89864449 | | | NC_000015.9:g.89864449G>A | - | | |
NM_002693.3(POLG):c.2640C>T (p.Ala880=) | 5428 | POLG | Likely benign | 1236111354 | RCV000603057|RCV001490961; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864450 | 89864450 | | | 15:g.89864450G>A | ClinGen:CA492289501 | CN169374 not specified; | |
NM_002693.3(POLG):c.2638G>T (p.Ala880Ser) | 5428 | POLG | Uncertain significance | 760842197 | RCV001368976; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864452 | 89864452 | | | 89864452 | - | | |
NM_002693.3(POLG):c.2637G>A (p.Gln879=) | 5428 | POLG | Likely benign | 2152061296 | RCV001424126; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864453 | 89864453 | | | 89864453 | - | | |
NM_002693.3(POLG):c.2636A>G (p.Gln879Arg) | 5428 | POLG | Conflicting interpretations of pathogenicity | 368587966 | RCV000188586|RCV000758312; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864454 | 89864454 | | | NC_000015.9:g.89864454T>C | ClinGen:CA316709 | CN517202 not provided; | |
NM_002693.3(POLG):c.2629A>G (p.Met877Val) | 5428 | POLG | Uncertain significance | -1 | RCV002574468; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864461 | 89864461 | | | NC_000015.9:g.89864461T>C | - | | |
NM_002693.3(POLG):c.2628C>T (p.Ala876=) | 5428 | POLG | Likely benign | 1422065234 | RCV001443528; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864462 | 89864462 | | | 15:g.89864462G>A | ClinGen:CA492073267 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2622G>A (p.Leu874=) | 5428 | POLG | Likely benign | -1 | RCV002942813; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864468 | 89864468 | | | | - | | |
NM_002693.3(POLG):c.2620T>A (p.Leu874Met) | 5428 | POLG | Conflicting interpretations of pathogenicity | 758402960 | RCV000188585|RCV000758311|RCV000766616|RCV003441772; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298 | 15 | 89864470 | 89864470 | | | NC_000015.9:g.89864470A>T | ClinGen:CA316707 | CN169374 not specified; | |
NM_002693.3(POLG):c.2616T>C (p.Ser872=) | 5428 | POLG | Likely benign | 2152061306 | RCV001457610; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864474 | 89864474 | | | 89864474 | - | | |
NM_002693.3(POLG):c.2613C>T (p.Gly871=) | 5428 | POLG | Likely benign | 372878701 | RCV000440619|RCV001051078; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864477 | 89864477 | | | 15:g.89864477G>A | ClinGen:CA7724392 | CN169374 not specified; | |
NM_002693.3(POLG):c.2608G>C (p.Val870Leu) | 5428 | POLG | Uncertain significance | 1329611992 | RCV001247893|RCV002473242; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89864482 | 89864482 | | | 15:g.89864482C>G | - | | |
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1356604153 | RCV000503882|RCV000758310; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864484 | 89864484 | | | NC_000015.9:g.89864484C>T | ClinGen:CA10602235 | CN169374 not specified; | |
NM_002693.3(POLG):c.2604C>T (p.Asp868=) | 5428 | POLG | Likely benign | -1 | RCV002614602; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864486 | 89864486 | | | | - | | |
NM_002693.3(POLG):c.2601T>C (p.Pro867=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 201749977 | RCV000127526|RCV000403402|RCV000709782|RCV000734626|RCV001457683; | N | MedGen: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, | 15 | 89864489 | 89864489 | | | NC_000015.9:g.89864489A>G | ClinGen:CA292834 | CN169374 not specified; | |
NM_002693.3(POLG):c.2600C>G (p.Pro867Arg) | 5428 | POLG | Uncertain significance | 780880601 | RCV000633549; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864490 | 89864490 | | | 15:g.89864490G>C | ClinGen:CA7724394 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2599-4A>G | 5428 | POLG | Likely benign | 2152061319 | RCV002162151; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864495 | 89864495 | | | 89864495 | - | | |
NM_002693.3(POLG):c.2599-5del | 5428 | POLG | Likely benign | 746472843 | RCV001227174; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864496 | 89864496 | | | 15:g.89864496_89864496del | - | | |
NM_002693.3(POLG):c.2599-10C>T | 5428 | POLG | Conflicting interpretations of pathogenicity | 769346219 | RCV000593139|RCV000726881|RCV001442687; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864501 | 89864501 | | | 15:g.89864501G>A | ClinGen:CA7724397 | CN169374 not specified; | |
NM_002693.3(POLG):c.2599-12C>T | 5428 | POLG | Likely benign | -1 | RCV003053062; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864503 | 89864503 | | | NC_000015.9:g.89864503G>A | - | | |
NM_002693.3(POLG):c.2599-14C>T | 5428 | POLG | Benign/Likely benign | 587781115 | RCV000127525|RCV002514684; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864505 | 89864505 | | | NC_000015.9:g.89864505G>A | ClinGen:CA292833 | CN169374 not specified; | |
NM_002693.3(POLG):c.2599-24T>C | 5428 | POLG | Likely benign | 368659678 | RCV000758375; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864515 | 89864515 | | | NC_000015.9:g.89864515A>G | - | | |
NM_002693.3(POLG):c.2599-40G>T | 5428 | POLG | Likely benign | 55792683 | RCV000758376|RCV001592943; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89864531 | 89864531 | | | NC_000015.9:g.89864531C>A | - | | |
NM_002693.3(POLG):c.2598+28T>A | 5428 | POLG | Likely benign | 1020120703 | RCV000758374; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864939 | 89864939 | | | NC_000015.9:g.89864939A>T | - | | |
NM_002693.3(POLG):c.2598+15T>G | 5428 | POLG | Conflicting interpretations of pathogenicity | 1057520997 | RCV000418954|RCV002519519; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864952 | 89864952 | | | 15:g.89864952A>C | ClinGen:CA16607061 | CN169374 not specified; | |
NM_002693.3(POLG):c.2598+12C>T | 5428 | POLG | Likely benign | 1243982675 | RCV002150174; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864955 | 89864955 | | | 89864955 | - | | |
NM_002693.3(POLG):c.2598+9C>T | 5428 | POLG | Likely benign | -1 | RCV003085619; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864958 | 89864958 | | | NC_000015.9:g.89864958G>A | - | | |
NM_002693.3(POLG):c.2597G>A (p.Arg866Gln) | 5428 | POLG | Uncertain significance | 779723962 | RCV000413508|RCV001861428|RCV003311804; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89864968 | 89864968 | | | 15:g.89864968C>T | ClinGen:CA7724416 | CN169374 not specified; | |
NM_002693.3(POLG):c.2596C>T (p.Arg866Trp) | 5428 | POLG | Uncertain significance | 748777396 | RCV000591696|RCV000690248|RCV002438544; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89864969 | 89864969 | | | 15:g.89864969G>A | ClinGen:CA7724418 | CN169374 not specified; | |
NM_002693.3(POLG):c.2595C>T (p.Ala865=) | 5428 | POLG | Likely benign | -1 | RCV003068691; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864970 | 89864970 | | | | - | | |
NM_002693.3(POLG):c.2591A>T (p.Asn864Ile) | 5428 | POLG | Conflicting interpretations of pathogenicity | 121918050 | RCV000795150; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864974 | 89864974 | | | 15:g.89864974T>A | - | | |
NM_002693.3(POLG):c.2583C>T (p.Thr861=) | 5428 | POLG | Likely benign | 372456693 | RCV000862449|RCV001441621; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864982 | 89864982 | | | 15:g.89864982G>A | - | | |
NM_002693.3(POLG):c.2574A>G (p.Thr858=) | 5428 | POLG | Likely benign | -1 | RCV003071354; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864991 | 89864991 | | | | - | | |
NM_002693.3(POLG):c.2573C>T (p.Thr858Ile) | 5428 | POLG | Conflicting interpretations of pathogenicity | 759128787 | RCV000758454|RCV001536256|RCV002424756; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 15 | 89864992 | 89864992 | | | NC_000015.9:g.89864992G>A | - | | |
NM_002693.3(POLG):c.2571C>T (p.Pro857=) | 5428 | POLG | Likely benign | -1 | RCV002795957; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89864994 | 89864994 | | | | - | | |
NM_002693.3(POLG):c.2566G>A (p.Glu856Lys) | 5428 | POLG | Uncertain significance | 1032930719 | RCV001336496|RCV002466665; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89864999 | 89864999 | | | 89864999 | - | | |
NM_002693.3(POLG):c.2564T>C (p.Val855Ala) | 5428 | POLG | Conflicting interpretations of pathogenicity | 963553787 | RCV000758453|RCV003225118; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89865001 | 89865001 | | | NC_000015.9:g.89865001A>G | - | | |
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) | 5428 | POLG | Conflicting interpretations of pathogenicity | 121918053 | RCV000014466|RCV000560575|RCV001449754|RCV003333951|RCV003330388; | N | MONDO: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:35698 | 15 | 89865008 | 89865008 | | | 15:g.89865008G>A | ClinGen:CA256899,UniProtKB:P54098#VAR_058889,OMIM:174763.0018 | C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; | |
NM_002693.3(POLG):c.2546C>A (p.Thr849Asn) | 5428 | POLG | Uncertain significance | -1 | RCV003030137; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865019 | 89865019 | | | NC_000015.9:g.89865019G>T | - | | |
NM_002693.3(POLG):c.2541C>T (p.Ala847=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 143810171 | RCV000127524|RCV000470778|RCV000710185|RCV001117865|RCV002316395; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MedGen:C4763519|MeSH:D030342,MedGen:C0950123 | 15 | 89865024 | 89865024 | | | NC_000015.9:g.89865024G>A | ClinGen:CA292831 | CN169374 not specified; | |
NM_002693.3(POLG):c.2533G>T (p.Val845Leu) | 5428 | POLG | Uncertain significance | 766185908 | RCV001047527; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865032 | 89865032 | | | 15:g.89865032C>A | - | | |
NM_002693.3(POLG):c.2532G>C (p.Val844=) | 5428 | POLG | Likely benign | 2152061718 | RCV001472109; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865033 | 89865033 | | | 89865033 | - | | |
NM_002693.3(POLG):c.2529A>G (p.Gln843=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 369395629 | RCV000188579|RCV000798168; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865036 | 89865036 | | | 15:g.89865036T>C | ClinGen:CA316699 | CN169374 not specified; | |
NM_002693.3(POLG):c.2527C>G (p.Gln843Glu) | 5428 | POLG | Uncertain significance | -1 | RCV003016898; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865038 | 89865038 | | | NC_000015.9:g.89865038G>C | - | | |
NM_002693.3(POLG):c.2526C>T (p.Pro842=) | 5428 | POLG | Likely benign | 758903771 | RCV000758373; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865039 | 89865039 | | | NC_000015.9:g.89865039G>A | - | | |
NM_002693.3(POLG):c.2525C>A (p.Pro842His) | 5428 | POLG | Uncertain significance | -1 | RCV003053954; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865040 | 89865040 | | | NC_000015.9:g.89865040G>T | - | | |
NM_002693.3(POLG):c.2513G>A (p.Gly838Glu) | 5428 | POLG | Uncertain significance | 2055400568 | RCV001301312; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865052 | 89865052 | | | 89865052 | - | | |
NM_002693.3(POLG):c.2511T>C (p.Tyr837=) | 5428 | POLG | Likely benign | 1555452884 | RCV000614775|RCV002063124; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865054 | 89865054 | | | 15:g.89865054A>G | ClinGen:CA492074751 | CN169374 not specified; | |
NM_002693.3(POLG):c.2510A>G (p.Tyr837Cys) | 5428 | POLG | Uncertain significance | 778190998 | RCV000202778|RCV000465346|RCV002478722; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89865055 | 89865055 | | | NC_000015.9:g.89865055T>C | ClinGen:CA248972 | CN169374 not specified; | |
NM_002693.3(POLG):c.2509T>C (p.Tyr837His) | 5428 | POLG | Uncertain significance | 544828395 | RCV000518238|RCV001210666|RCV001764514|RCV003338630; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640 | 15 | 89865056 | 89865056 | | | NC_000015.9:g.89865056A>G | ClinGen:CA7724435 | CN169374 not specified; | |
NM_002693.3(POLG):c.2508C>T (p.Leu836=) | 5428 | POLG | Likely benign | 183811122 | RCV000543640|RCV001706663; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89865057 | 89865057 | | | NC_000015.9:g.89865057G>A | ClinGen:CA7724436 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2508C>G (p.Leu836=) | 5428 | POLG | Likely benign | -1 | RCV003078773; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865057 | 89865057 | | | | - | | |
NM_002693.3(POLG):c.2505C>A (p.Gly835=) | 5428 | POLG | Likely benign | -1 | RCV002863683; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865060 | 89865060 | | | | - | | |
NM_002693.3(POLG):c.2496T>G (p.Asp832Glu) | 5428 | POLG | Uncertain significance | 762985241 | RCV000188578|RCV001852490; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865069 | 89865069 | | | NC_000015.9:g.89865069A>C | ClinGen:CA316697 | CN169374 not specified; | |
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) | 5428 | POLG | Benign/Likely benign | 41549716 | RCV000014463|RCV000175036|RCV000224425|RCV000464026|RCV001117866|RCV001847604|RCV002313711; | N | MONDO: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:C0950123 | 15 | 89865073 | 89865073 | | | 15:g.89865073T>C | ClinGen:CA256897,UniProtKB:P54098#VAR_023674,OMIM:174763.0015 | C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; | |
NM_002693.3(POLG):c.2488G>A (p.Asp830Asn) | 5428 | POLG | Conflicting interpretations of pathogenicity | -1 | RCV002430885|RCV002473384|RCV003101877; | N | MeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865077 | 89865077 | | | 89865077 | - | | |
NM_002693.3(POLG):c.2488G>T (p.Asp830Tyr) | 5428 | POLG | Uncertain significance | -1 | RCV002824171; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865077 | 89865077 | | | NC_000015.9:g.89865077C>A | - | | |
NM_002693.3(POLG):c.2487C>T (p.Pro829=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 147563527 | RCV000291085|RCV000726206|RCV001087373; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865078 | 89865078 | | | 15:g.89865078G>A | ClinGen:CA7724444 | CN169374 not specified; | |
NM_002693.3(POLG):c.2485C>T (p.Pro829Ser) | 5428 | POLG | Uncertain significance | 906230544 | RCV001903884|RCV002490228; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89865080 | 89865080 | | | 89865080 | - | | |
NM_002693.3(POLG):c.2483A>G (p.His828Arg) | 5428 | POLG | Uncertain significance | 533807211 | RCV000758449; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865082 | 89865082 | | | NC_000015.9:g.89865082T>C | - | | |
NM_002693.3(POLG):c.2483A>T (p.His828Leu) | 5428 | POLG | Uncertain significance | 533807211 | RCV001046081|RCV001357256; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89865082 | 89865082 | | | 15:g.89865082T>A | - | | |
NM_002693.3(POLG):c.2482C>G (p.His828Asp) | 5428 | POLG | Uncertain significance | 2152061770 | RCV002045042; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865083 | 89865083 | | | 89865083 | - | | |
NM_002693.3(POLG):c.2481-4C>G | 5428 | POLG | Uncertain significance | 764833370 | RCV001997049|RCV002563517|RCV003232480; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:C3661900 | 15 | 89865088 | 89865088 | | | 89865088 | - | | |
NM_002693.3(POLG):c.2481-6C>T | 5428 | POLG | Benign/Likely benign | 752226219 | RCV000188515|RCV000931489|RCV002054219; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865090 | 89865090 | | | NC_000015.9:g.89865090G>A | ClinGen:CA316592 | CN169374 not specified; | |
NM_002693.3(POLG):c.2481-7C>T | 5428 | POLG | Conflicting interpretations of pathogenicity | 2307448 | RCV000212876|RCV000474664|RCV000676323|RCV001117867|RCV001327991|RCV001847750; | N | MedGen: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, | 15 | 89865091 | 89865091 | | | NC_000015.9:g.89865091G>A | ClinGen:CA292830 | CN517202 not provided; | |
NM_002693.3(POLG):c.2481-9C>A | 5428 | POLG | Likely benign | 369422789 | RCV000535686; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865093 | 89865093 | | | NC_000015.9:g.89865093G>T | ClinGen:CA619857617 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2481-9C>T | 5428 | POLG | Likely benign | -1 | RCV002795507; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865093 | 89865093 | | | NC_000015.9:g.89865093G>A | - | | |
NM_002693.3(POLG):c.2481-10A>C | 5428 | POLG | Conflicting interpretations of pathogenicity | 555280530 | RCV000395822|RCV000468935|RCV000734135; | N | MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89865094 | 89865094 | | | NC_000015.9:g.89865094T>G | ClinGen:CA7724448 | CN169374 not specified; | |
NM_002693.3(POLG):c.2481-11C>T | 5428 | POLG | Likely benign | -1 | RCV002967989; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865095 | 89865095 | | | NC_000015.9:g.89865095G>A | - | | |
NM_002693.3(POLG):c.2481-13T>G | 5428 | POLG | Likely benign | 2152061781 | RCV002170453; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865097 | 89865097 | | | 89865097 | - | | |
NM_002693.3(POLG):c.2481-26C>T | 5428 | POLG | Likely benign | 112776049 | RCV000758371; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865110 | 89865110 | | | NC_000015.9:g.89865110G>A | - | | |
NM_002693.3(POLG):c.2481-44A>T | 5428 | POLG | Likely benign | 370712401 | RCV000758372; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865128 | 89865128 | | | NC_000015.9:g.89865128T>A | - | | |
NM_002693.3(POLG):c.2480+19T>C | 5428 | POLG | Likely benign | -1 | RCV002886431; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865174 | 89865174 | | | NC_000015.9:g.89865174A>G | - | | |
NM_002693.3(POLG):c.2480+17G>A | 5428 | POLG | Benign/Likely benign | 762669285 | RCV000188514|RCV002054218; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865176 | 89865176 | | | 15:g.89865176C>T | ClinGen:CA316591 | CN169374 not specified; | |
NM_002693.3(POLG):c.2480+9T>A | 5428 | POLG | Uncertain significance | 2055403170 | RCV001069239; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865184 | 89865184 | | | 15:g.89865184A>T | - | | |
NM_002693.3(POLG):c.2480+5G>C | 5428 | POLG | Uncertain significance | 1229969606 | RCV000559664; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865188 | 89865188 | | | NC_000015.9:g.89865188C>G | ClinGen:CA619857631 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2473G>T (p.Val825Leu) | 5428 | POLG | Uncertain significance | 1344797678 | RCV001864214; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865200 | 89865200 | | | 89865200 | - | | |
NM_002693.3(POLG):c.2472T>G (p.Ala824=) | 5428 | POLG | Likely benign | -1 | RCV003045030; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865201 | 89865201 | | | | - | | |
NM_002693.3(POLG):c.2471C>T (p.Ala824Val) | 5428 | POLG | Uncertain significance | 1378795521 | RCV001776602|RCV002544213; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865202 | 89865202 | | | 89865202 | - | | |
NM_002693.3(POLG):c.2468G>A (p.Arg823His) | 5428 | POLG | Uncertain significance | 751172552 | RCV000517451|RCV000765241|RCV001851452|RCV002269283; | N | MedGen:CN169374|6 conditions|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89865205 | 89865205 | | | NC_000015.9:g.89865205C>T | ClinGen:CA7724466 | CN169374 not specified; | |
NM_002693.3(POLG):c.2467C>T (p.Arg823Cys) | 5428 | POLG | Uncertain significance | 757835879 | RCV000188576|RCV001066948|RCV002426912; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89865206 | 89865206 | | | 15:g.89865206G>A | ClinGen:CA316693 | CN169374 not specified; | |
NM_002693.3(POLG):c.2460T>C (p.Ala820=) | 5428 | POLG | Likely benign | -1 | RCV003067749; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865213 | 89865213 | | | | - | | |
NM_002693.3(POLG):c.2458G>A (p.Ala820Thr) | 5428 | POLG | Uncertain significance | -1 | RCV002838239; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865215 | 89865215 | | | NC_000015.9:g.89865215C>T | - | | |
NM_002693.3(POLG):c.2454G>T (p.Arg818Ser) | 5428 | POLG | Uncertain significance | -1 | RCV003108658; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865219 | 89865219 | | | NC_000015.9:g.89865219C>A | - | | |
NM_002693.3(POLG):c.2450C>T (p.Pro817Leu) | 5428 | POLG | Uncertain significance | -1 | RCV002750817; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865223 | 89865223 | | | NC_000015.9:g.89865223G>A | - | | |
NM_002693.3(POLG):c.2446C>G (p.Leu816Val) | 5428 | POLG | Uncertain significance | 748262645 | RCV000420712|RCV000758308|RCV003392237; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726| | 15 | 89865227 | 89865227 | | | 15:g.89865227G>C | ClinGen:CA7724474 | CN169374 not specified; | |
NM_002693.3(POLG):c.2444G>T (p.Trp815Leu) | 5428 | POLG | Uncertain significance | 2055404128 | RCV001924841; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865229 | 89865229 | | | 89865229 | - | | |
NM_002693.3(POLG):c.2437GTG[1] (p.Val814del) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1596353095 | RCV000758307|RCV003396322|RCV003396321; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726||MedGen:C3661900 | 15 | 89865231 | 89865233 | | | 15:g.89865231_89865233del | - | | |
NM_002693.3(POLG):c.2435T>C (p.Met812Thr) | 5428 | POLG | Uncertain significance | -1 | RCV002819942; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865238 | 89865238 | | | NC_000015.9:g.89865238A>G | - | | |
NM_002693.3(POLG):c.2427-8C>T | 5428 | POLG | Likely benign | -1 | RCV003029746; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865254 | 89865254 | | | NC_000015.9:g.89865254G>A | - | | |
NM_002693.3(POLG):c.2427-10G>C | 5428 | POLG | Likely benign | 1435343052 | RCV002095044; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865256 | 89865256 | | | 89865256 | - | | |
NM_002693.3(POLG):c.2427-12C>G | 5428 | POLG | Benign | 199815957 | RCV000188513|RCV002054217; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865258 | 89865258 | | | NC_000015.9:g.89865258G>C | ClinGen:CA316590 | CN169374 not specified; | |
NM_002693.3(POLG):c.2427-13T>C | 5428 | POLG | Likely benign | -1 | RCV003040889; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865259 | 89865259 | | | NC_000015.9:g.89865259A>G | - | | |
NM_002693.3(POLG):c.2427-14G>C | 5428 | POLG | Likely benign | 1247657513 | RCV000826283|RCV002067426; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865260 | 89865260 | | | 15:g.89865260C>G | - | | |
NM_002693.3(POLG):c.2427-16T>C | 5428 | POLG | Likely benign | 769407407 | RCV000758369; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865262 | 89865262 | | | NC_000015.9:g.89865262A>G | - | | |
NM_002693.3(POLG):c.2427-17G>A | 5428 | POLG | Likely benign | 775367938 | RCV000612607|RCV002529766; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865263 | 89865263 | | | 15:g.89865263C>T | ClinGen:CA7724478 | CN169374 not specified; | |
NM_002693.3(POLG):c.2427-18C>T | 5428 | POLG | Likely benign | -1 | RCV002695859; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865264 | 89865264 | | | NC_000015.9:g.89865264G>A | - | | |
NM_002693.3(POLG):c.2427-19A>G | 5428 | POLG | Likely benign | -1 | RCV002624156; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865265 | 89865265 | | | NC_000015.9:g.89865265T>C | - | | |
NM_002693.3(POLG):c.2427-20C>T | 5428 | POLG | Likely benign | 1567187412 | RCV000758370; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865266 | 89865266 | | | NC_000015.9:g.89865266G>A | - | | |
NM_002693.3(POLG):c.2426+27G>A | 5428 | POLG | Benign | 72762657 | RCV000758368; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865946 | 89865946 | | | NC_000015.9:g.89865946C>T | - | | |
NM_002693.3(POLG):c.2426+20G>A | 5428 | POLG | Likely benign | -1 | RCV002903239; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865953 | 89865953 | | | NC_000015.9:g.89865953C>T | - | | |
NM_002693.3(POLG):c.2426+17G>A | 5428 | POLG | Likely benign | 572105844 | RCV000758521; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865956 | 89865956 | | | NC_000015.9:g.89865956C>T | - | | |
NM_002693.3(POLG):c.2426+12T>C | 5428 | POLG | Likely benign | -1 | RCV003067257; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865961 | 89865961 | | | NC_000015.9:g.89865961A>G | - | | |
NM_002693.3(POLG):c.2426+10C>G | 5428 | POLG | Uncertain significance | 1567187739 | RCV000758306; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865963 | 89865963 | | | NC_000015.9:g.89865963G>C | - | | |
NM_002693.3(POLG):c.2426+6C>T | 5428 | POLG | Uncertain significance | 2055414347 | RCV001318952; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865967 | 89865967 | | | 89865967 | - | | |
NM_002693.3(POLG):c.2425A>C (p.Ser809Arg) | 5428 | POLG | Uncertain significance | 2055414422 | RCV001201736; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865974 | 89865974 | | | 15:g.89865974T>G | - | | |
NM_002693.3(POLG):c.2424C>G (p.Ile808Met) | 5428 | POLG | Uncertain significance | 1567187747 | RCV000706227; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865975 | 89865975 | | | NC_000015.9:g.89865975G>C | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) | 5428 | POLG | Conflicting interpretations of pathogenicity | 769827124 | RCV000261805|RCV000547242|RCV000678828|RCV000626194|RCV001263147; | N | MedGen: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:70595 | 15 | 89865980 | 89865980 | | | 15:g.89865980G>A | ClinGen:CA7724495,UniProtKB:P54098#VAR_058887 | C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; | |
NM_002693.3(POLG):c.2409C>T (p.Asn803=) | 5428 | POLG | Likely benign | 1236942179 | RCV000758520; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865990 | 89865990 | | | NC_000015.9:g.89865990G>A | - | | |
NM_002693.3(POLG):c.2405G>A (p.Arg802Lys) | 5428 | POLG | Uncertain significance | 545622947 | RCV001917453; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89865994 | 89865994 | | | 89865994 | - | | |
NM_002693.3(POLG):c.2392A>C (p.Ile798Leu) | 5428 | POLG | Uncertain significance | 796052873 | RCV000633533|RCV001711602; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89866007 | 89866007 | | | 15:g.89866007T>G | ClinGen:CA316588 | CN169374 not specified; | |
NM_002693.3(POLG):c.2392A>G (p.Ile798Val) | 5428 | POLG | Uncertain significance | 796052873 | RCV001207887; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866007 | 89866007 | | | 15:g.89866007T>C | - | | |
NM_002693.3(POLG):c.2387A>G (p.Lys796Arg) | 5428 | POLG | Uncertain significance | 2055414967 | RCV001911574; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866012 | 89866012 | | | 89866012 | - | | |
NM_002693.3(POLG):c.2384A>G (p.Asn795Ser) | 5428 | POLG | Uncertain significance | 2055414996 | RCV001332166; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866015 | 89866015 | | | 89866015 | - | | |
NM_002693.3(POLG):c.2373T>C (p.Ala791=) | 5428 | POLG | Likely benign | -1 | RCV002646108; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866026 | 89866026 | | | | - | | |
NM_002693.3(POLG):c.2369G>A (p.Arg790His) | 5428 | POLG | Uncertain significance | 191490663 | RCV000476234|RCV000724074|RCV001847808|RCV002312709|RCV002492738; | N | 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 conditions | 15 | 89866030 | 89866030 | | | 15:g.89866030C>T | ClinGen:CA302756 | CN169374 not specified; | |
NM_002693.3(POLG):c.2368C>T (p.Arg790Cys) | 5428 | POLG | Uncertain significance | 775168496 | RCV000188574|RCV001852489; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866031 | 89866031 | | | 15:g.89866031G>A | ClinGen:CA316689 | CN169374 not specified; | |
NM_002693.3(POLG):c.2360G>C (p.Ser787Thr) | 5428 | POLG | Uncertain significance | -1 | RCV002299036; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866039 | 89866039 | | | 89866039 | - | | |
NM_002693.3(POLG):c.2354G>A (p.Gly785Asp) | 5428 | POLG | Uncertain significance | 149058889 | RCV000696306|RCV001117868|RCV001561401; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MedGen:CN517202 | 15 | 89866045 | 89866045 | | | NC_000015.9:g.89866045C>T | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2345G>T (p.Gly782Val) | 5428 | POLG | Uncertain significance | -1 | RCV003077216; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866054 | 89866054 | | | NC_000015.9:g.89866054C>A | - | | |
NM_002693.3(POLG):c.2341G>T (p.Ala781Ser) | 5428 | POLG | Uncertain significance | -1 | RCV002731384; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866058 | 89866058 | | | NC_000015.9:g.89866058C>A | - | | |
NM_002693.3(POLG):c.2337G>A (p.Leu779=) | 5428 | POLG | Likely benign | 766945677 | RCV001452650; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866062 | 89866062 | | | 89866062 | - | | |
NM_002693.3(POLG):c.2334C>A (p.Thr778=) | 5428 | POLG | Likely benign | -1 | RCV003120078; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866065 | 89866065 | | | | - | | |
NM_002693.3(POLG):c.2324A>G (p.Glu775Gly) | 5428 | POLG | Uncertain significance | 2152062411 | RCV001902377; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866075 | 89866075 | | | 89866075 | - | | |
NM_002693.3(POLG):c.2322G>A (p.Met774Ile) | 5428 | POLG | Uncertain significance | 754144065 | RCV001902378; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866077 | 89866077 | | | 89866077 | - | | |
NM_002693.3(POLG):c.2322G>C (p.Met774Ile) | 5428 | POLG | Uncertain significance | -1 | RCV003104728; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866077 | 89866077 | | | NC_000015.9:g.89866077C>G | - | | |
NM_002693.3(POLG):c.2314C>T (p.Pro772Ser) | 5428 | POLG | Uncertain significance | 2152062414 | RCV001911485; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866085 | 89866085 | | | 89866085 | - | | |
NM_002693.3(POLG):c.2309T>C (p.Phe770Ser) | 5428 | POLG | Uncertain significance | -1 | RCV002766376; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866090 | 89866090 | | | NC_000015.9:g.89866090A>G | - | | |
NM_002693.3(POLG):c.2299G>A (p.Ala767Thr) | 5428 | POLG | Uncertain significance | -1 | RCV002672185; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866100 | 89866100 | | | NC_000015.9:g.89866100C>T | - | | |
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1003442806 | RCV000530237; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866106 | 89866106 | | | NC_000015.9:g.89866106G>T | ClinGen:CA10602222 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2287G>C (p.Gly763Arg) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1567187837 | RCV000712793|RCV001796195|RCV001861978; | N | MedGen:CN517202|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866112 | 89866112 | | | NC_000015.9:g.89866112C>G | - | | |
NM_002693.3(POLG):c.2283T>C (p.Asn761=) | 5428 | POLG | Likely benign | 765593890 | RCV001397319; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866116 | 89866116 | | | 89866116 | - | | |
NM_002693.3(POLG):c.2273A>G (p.Asn758Ser) | 5428 | POLG | Uncertain significance | 2152062441 | RCV001970568; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866126 | 89866126 | | | 89866126 | - | | |
NM_002693.3(POLG):c.2268T>C (p.Asp756=) | 5428 | POLG | Likely benign | 758644254 | RCV002123343; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866131 | 89866131 | | | 89866131 | - | | |
NM_002693.3(POLG):c.2266-3C>T | 5428 | POLG | Uncertain significance | 777809569 | RCV001214911; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866136 | 89866136 | | | 15:g.89866136G>A | - | | |
NM_002693.3(POLG):c.2266-7T>C | 5428 | POLG | Likely benign | 2152062447 | RCV001486256; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866140 | 89866140 | | | 89866140 | - | | |
NM_002693.3(POLG):c.2266-8C>T | 5428 | POLG | Likely benign | 1203561072 | RCV001482247; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866141 | 89866141 | | | 89866141 | - | | |
NM_002693.3(POLG):c.2266-9T>C | 5428 | POLG | Likely benign | 2152062448 | RCV002088897; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866142 | 89866142 | | | 89866142 | - | | |
NM_002693.3(POLG):c.2266-11G>C | 5428 | POLG | Conflicting interpretations of pathogenicity | 747154432 | RCV000367320|RCV002056472; | N | MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866144 | 89866144 | | | NC_000015.9:g.89866144C>G | ClinGen:CA7724509 | CN239393 POLG-Related Spectrum Disorders; | |
NM_002693.3(POLG):c.2266-15C>A | 5428 | POLG | Likely benign | 543286870 | RCV002152299; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866148 | 89866148 | | | 89866148 | - | | |
NM_002693.3(POLG):c.2266-19C>T | 5428 | POLG | Benign/Likely benign | 780096431 | RCV000188511|RCV002054216; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866152 | 89866152 | | | 15:g.89866152G>A | ClinGen:CA316587 | CN169374 not specified; | |
NM_002693.3(POLG):c.2266-44G>T | 5428 | POLG | Likely benign | 1335068171 | RCV000758518; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866177 | 89866177 | | | NC_000015.9:g.89866177C>A | - | | |
NM_002693.3(POLG):c.2266-48del | 5428 | POLG | Likely benign | 766283304 | RCV000758519; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866181 | 89866181 | | | NC_000015.9:g.89866181del | - | | |
NM_002693.3(POLG):c.2266-76T>C | 5428 | POLG | Benign/Likely benign | 3176203 | RCV000758411|RCV001644798; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89866209 | 89866209 | | | NC_000015.9:g.89866209A>G | - | | |
NM_002693.3(POLG):c.2265+16_2265+17dup | 5428 | POLG | Likely benign | -1 | RCV002979926; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866617 | 89866618 | | | NC_000015.9:g.89866618_89866619dup | - | | |
NM_002693.3(POLG):c.2265+17G>A | 5428 | POLG | Uncertain significance | 2152062840 | RCV002005230; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866618 | 89866618 | | | 89866618 | - | | |
NM_002693.3(POLG):c.2265+15A>G | 5428 | POLG | Likely benign | 747993559 | RCV000758517; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866620 | 89866620 | | | NC_000015.9:g.89866620T>C | - | | |
NM_002693.3(POLG):c.2265+15A>T | 5428 | POLG | Likely benign | 747993559 | RCV002220772; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866620 | 89866620 | | | 89866620 | - | | |
NM_002693.3(POLG):c.2265+8C>G | 5428 | POLG | Likely benign | -1 | RCV002852745; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866627 | 89866627 | | | NC_000015.9:g.89866627G>C | - | | |
NM_002693.3(POLG):c.2265+7C>T | 5428 | POLG | Likely benign | 371189501 | RCV001489722; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866628 | 89866628 | | | 89866628 | - | | |
NM_002693.3(POLG):c.2265+6T>A | 5428 | POLG | Conflicting interpretations of pathogenicity | 746650160 | RCV001697862|RCV002531542; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866629 | 89866629 | | | 15:g.89866629A>T | ClinGen:CA7724535 | CN169374 not specified; | |
NM_002693.3(POLG):c.2265+5G>A | 5428 | POLG | Uncertain significance | 2055426347 | RCV001891497; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866630 | 89866630 | | | 89866630 | - | | |
NM_002693.3(POLG):c.2265+5G>C | 5428 | POLG | Uncertain significance | 2055426347 | RCV002044225; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866630 | 89866630 | | | 89866630 | - | | |
NM_002693.3(POLG):c.2265+1G>A | 5428 | POLG | Conflicting interpretations of pathogenicity | -1 | RCV002475511|RCV002571546|RCV003395485; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726| | 15 | 89866634 | 89866634 | | | NC_000015.9:g.89866634C>T | - | | |
NM_002693.3(POLG):c.2264A>C (p.Lys755Thr) | 5428 | POLG | Conflicting interpretations of pathogenicity | 770438363 | RCV000598297|RCV000758303; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866636 | 89866636 | | | 15:g.89866636T>G | ClinGen:CA7724536 | CN169374 not specified; | |
NM_002693.3(POLG):c.2259T>G (p.Pro753=) | 5428 | POLG | Likely benign | 2055426550 | RCV002156737|RCV003408106; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89866641 | 89866641 | | | 89866641 | - | | |
NM_002693.3(POLG):c.2258C>G (p.Pro753Arg) | 5428 | POLG | Uncertain significance | -1 | RCV002283107|RCV003101620; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866642 | 89866642 | | | 89866642 | - | | |
NM_002693.3(POLG):c.2257C>T (p.Pro753Ser) | 5428 | POLG | Uncertain significance | 1446536384 | RCV001358838|RCV002486496; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89866643 | 89866643 | | | 89866643 | - | | |
NM_002693.3(POLG):c.2257C>A (p.Pro753Thr) | 5428 | POLG | Uncertain significance | 1446536384 | RCV001893334; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866643 | 89866643 | | | 89866643 | - | | |
NM_002693.3(POLG):c.2255T>C (p.Leu752Pro) | 5428 | POLG | Uncertain significance | 2055426653 | RCV001316822|RCV001796438|RCV002486247; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|6 conditions | 15 | 89866645 | 89866645 | | | 89866645 | - | | |
NM_002693.3(POLG):c.2254C>T (p.Leu752=) | 5428 | POLG | Benign | 41564016 | RCV000118013|RCV000275068|RCV000464149|RCV000676324|RCV001753495|RCV001847710|RCV002312229; | N | MedGen: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,MedG | 15 | 89866646 | 89866646 | | | 15:g.89866646G>A | ClinGen:CA154728 | CN517202 not provided; | |
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) | 5428 | POLG | Conflicting interpretations of pathogenicity | 202037973 | RCV000188572|RCV000758416|RCV001263312|RCV001270867|RCV002514034|RCV003422087; | N | MedGen: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:0002 | 15 | 89866654 | 89866654 | | | NC_000015.9:g.89866654A>G | ClinGen:CA316685 | CN517202 not provided; | |
NM_002693.3(POLG):c.2245T>G (p.Phe749Val) | 5428 | POLG | Uncertain significance | -1 | RCV003045051; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866655 | 89866655 | | | NC_000015.9:g.89866655A>C | - | | |
NM_002693.3(POLG):c.2240G>A (p.Cys747Tyr) | 5428 | POLG | Uncertain significance | 1596354250 | RCV000801583; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866660 | 89866660 | | | 15:g.89866660C>T | - | | |
NM_002693.3(POLG):c.2238C>T (p.Gly746=) | 5428 | POLG | Likely benign | 1455947188 | RCV002188992; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866662 | 89866662 | | | 89866662 | - | | |
NM_002693.3(POLG):c.2235T>C (p.Pro745=) | 5428 | POLG | Likely benign | -1 | RCV003013577; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866665 | 89866665 | | | | - | | |
NM_002693.3(POLG):c.2224G>A (p.Val742Met) | 5428 | POLG | Uncertain significance | 147827654 | RCV000758301; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866676 | 89866676 | | | NC_000015.9:g.89866676C>T | - | | |
NM_002693.3(POLG):c.2223C>T (p.Asp741=) | 5428 | POLG | Likely benign | -1 | RCV002740090; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866677 | 89866677 | | | | - | | |
NM_002693.3(POLG):c.2221G>A (p.Asp741Asn) | 5428 | POLG | Uncertain significance | 751736420 | RCV000546345|RCV000594899|RCV002431554|RCV003330754; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MedGen:CN169374 | 15 | 89866679 | 89866679 | | | 15:g.89866679C>T | ClinGen:CA7724540 | CN169374 not specified; | |
NM_002693.3(POLG):c.2220C>T (p.Asn740=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 141538857 | RCV000249671|RCV000539923|RCV000727336|RCV002313981; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 89866680 | 89866680 | | | NC_000015.9:g.89866680G>A | ClinGen:CA7724541 | CN169374 not specified; | |
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp) | 5428 | POLG | Uncertain significance | 78347903 | RCV000712792|RCV001119420|RCV001372628|RCV002051721|RCV002317144|RCV003448281; | N | MedGen: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:C422515 | 15 | 89866682 | 89866682 | | | 15:g.89866682T>C | ClinGen:CA316683 | CN169374 not specified; | |
NM_002693.3(POLG):c.2216A>T (p.Tyr739Phe) | 5428 | POLG | Uncertain significance | 1365039710 | RCV001872207; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866684 | 89866684 | | | 89866684 | - | | |
NM_002693.3(POLG):c.2215T>C (p.Tyr739His) | 5428 | POLG | Uncertain significance | 796052885 | RCV000188570|RCV000822188; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866685 | 89866685 | | | NC_000015.9:g.89866685A>G | ClinGen:CA316681 | CN169374 not specified; | |
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) | 5428 | POLG | Conflicting interpretations of pathogenicity | 138457939 | RCV000188567|RCV000231376|RCV000515256|RCV000712791|RCV001119421|RCV001252353|RCV002227937|RCV002314741; | N | MedGen: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 Ontolog | 15 | 89866693 | 89866693 | | | NC_000015.9:g.89866693T>C | ClinGen:CA316678 | C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; | |
NM_002693.3(POLG):c.2203G>C (p.Gly735Arg) | 5428 | POLG | Uncertain significance | -1 | RCV002295205; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866697 | 89866697 | | | 89866697 | - | | |
NM_002693.3(POLG):c.2201A>G (p.His734Arg) | 5428 | POLG | Uncertain significance | 56119329 | RCV001048557; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866699 | 89866699 | | | 15:g.89866699T>C | - | | |
NM_002693.3(POLG):c.2195A>G (p.Tyr732Cys) | 5428 | POLG | Uncertain significance | 760305786 | RCV000188566|RCV000814974; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866705 | 89866705 | | | 15:g.89866705T>C | ClinGen:CA316676 | CN169374 not specified; | |
NM_002693.3(POLG):c.2194T>C (p.Tyr732His) | 5428 | POLG | Uncertain significance | 1470138488 | RCV001911219; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866706 | 89866706 | | | 89866706 | - | | |
NM_002693.3(POLG):c.2191A>G (p.Ser731Gly) | 5428 | POLG | Uncertain significance | -1 | RCV003055057; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866709 | 89866709 | | | NC_000015.9:g.89866709T>C | - | | |
NM_002693.3(POLG):c.2190C>G (p.Pro730=) | 5428 | POLG | Likely benign | 146045546 | RCV002165513; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866710 | 89866710 | | | 89866710 | - | | |
NM_002693.3(POLG):c.2187G>C (p.Gln729His) | 5428 | POLG | Uncertain significance | 539787090 | RCV001366193; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866713 | 89866713 | | | 89866713 | - | | |
NM_002693.3(POLG):c.2183C>G (p.Thr728Ser) | 5428 | POLG | Uncertain significance | -1 | RCV002605776; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866717 | 89866717 | | | NC_000015.9:g.89866717G>C | - | | |
NM_002693.3(POLG):c.2179G>T (p.Asp727Tyr) | 5428 | POLG | Uncertain significance | 2152062930 | RCV001975658; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866721 | 89866721 | | | 89866721 | - | | |
NM_002693.3(POLG):c.2177A>G (p.Lys726Arg) | 5428 | POLG | Uncertain significance | 774599342 | RCV000188565|RCV000729876|RCV000758300; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866723 | 89866723 | | | NC_000015.9:g.89866723T>C | ClinGen:CA316674 | CN169374 not specified; | |
NM_002693.3(POLG):c.2175C>T (p.Pro725=) | 5428 | POLG | Likely benign | 2152062935 | RCV001475714; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866725 | 89866725 | | | 89866725 | - | | |
NM_002693.3(POLG):c.2172C>T (p.Gly724=) | 5428 | POLG | Likely benign | 2152062939 | RCV001392401; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866728 | 89866728 | | | 89866728 | - | | |
NM_002693.3(POLG):c.2168G>T (p.Gly723Val) | 5428 | POLG | Uncertain significance | 2055428060 | RCV001765234|RCV001847327|RCV001861078; | N | MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866732 | 89866732 | | | 89866732 | - | | |
NM_002693.3(POLG):c.2167G>A (p.Gly723Ser) | 5428 | POLG | Uncertain significance | 762070650 | RCV000817217; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866733 | 89866733 | | | 15:g.89866733C>T | - | | |
NM_002693.3(POLG):c.2167G>C (p.Gly723Arg) | 5428 | POLG | Uncertain significance | 762070650 | RCV001235092|RCV002567897; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89866733 | 89866733 | | | 15:g.89866733C>G | - | | |
NM_002693.3(POLG):c.2167G>T (p.Gly723Cys) | 5428 | POLG | Uncertain significance | 762070650 | RCV001997688|RCV003234146; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN180166 | 15 | 89866733 | 89866733 | | | 89866733 | - | | |
NM_002693.3(POLG):c.2166T>C (p.Arg722=) | 5428 | POLG | Likely benign | 767669686 | RCV002186714; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866734 | 89866734 | | | 89866734 | - | | |
NM_002693.3(POLG):c.2165G>T (p.Arg722Leu) | 5428 | POLG | Uncertain significance | 185645212 | RCV000188564|RCV000758299|RCV002426911; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89866735 | 89866735 | | | 15:g.89866735C>A | ClinGen:CA316672 | CN169374 not specified; | |
NM_002693.3(POLG):c.2165G>A (p.Arg722His) | 5428 | POLG | Benign/Likely benign | 185645212 | RCV000420622|RCV001510028; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866735 | 89866735 | | | 15:g.89866735C>T | ClinGen:CA7724556 | CN169374 not specified; | |
NM_002693.3(POLG):c.2165G>C (p.Arg722Pro) | 5428 | POLG | Uncertain significance | 185645212 | RCV001222953; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866735 | 89866735 | | | 15:g.89866735C>G | - | | |
NM_002693.3(POLG):c.2164C>T (p.Arg722Cys) | 5428 | POLG | Uncertain significance | 763824242 | RCV000458565; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866736 | 89866736 | | | NC_000015.9:g.89866736G>A | ClinGen:CA7724557 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2158-13G>A | 5428 | POLG | Benign/Likely benign | 763930501 | RCV001716719|RCV002073336; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866755 | 89866755 | | | 89866755 | - | | |
NM_002693.3(POLG):c.2158-16T>G | 5428 | POLG | Likely benign | -1 | RCV002820537; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866758 | 89866758 | | | NC_000015.9:g.89866758A>C | - | | |
NM_002693.3(POLG):c.2158-17G>T | 5428 | POLG | Likely benign | 1567188293 | RCV000758516; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866759 | 89866759 | | | NC_000015.9:g.89866759C>A | - | | |
NM_002693.3(POLG):c.2158-17G>A | 5428 | POLG | Likely benign | -1 | RCV002745596; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866759 | 89866759 | | | NC_000015.9:g.89866759C>T | - | | |
NM_002693.3(POLG):c.2158-20T>A | 5428 | POLG | Likely benign | 374951133 | RCV002200716; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866762 | 89866762 | | | 89866762 | - | | |
NM_002693.3(POLG):c.2158-20T>C | 5428 | POLG | Likely benign | 374951133 | RCV002095226; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89866762 | 89866762 | | | 89866762 | - | | |
NM_002693.3(POLG):c.2157+15G>A | 5428 | POLG | Conflicting interpretations of pathogenicity | 766521182 | RCV000259254|RCV000431288|RCV000758515; | N | MedGen:C4763519|MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867031 | 89867031 | | | NC_000015.9:g.89867031C>T | ClinGen:CA7724574 | CN169374 not specified; | |
NM_002693.3(POLG):c.2157+14C>T | 5428 | POLG | Likely benign | 989119619 | RCV002204765; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867032 | 89867032 | | | 89867032 | - | | |
NM_002693.3(POLG):c.2157+13C>G | 5428 | POLG | Likely benign | -1 | RCV003081458; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867033 | 89867033 | | | NC_000015.9:g.89867033G>C | - | | |
NM_002693.3(POLG):c.2157+12G>A | 5428 | POLG | Likely benign | 762919106 | RCV000444763|RCV002060041; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867034 | 89867034 | | | 15:g.89867034C>T | ClinGen:CA7724576 | CN169374 not specified; | |
NM_002693.3(POLG):c.2157+11C>T | 5428 | POLG | Conflicting interpretations of pathogenicity | 56411159 | RCV000127520|RCV000316850|RCV000758558; | N | MedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867035 | 89867035 | | | NC_000015.9:g.89867035G>A | ClinGen:CA292829 | CN169374 not specified; | |
NM_002693.3(POLG):c.2157+11C>A | 5428 | POLG | Likely benign | -1 | RCV002876735; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867035 | 89867035 | | | NC_000015.9:g.89867035G>T | - | | |
NM_002693.3(POLG):c.2157+10G>T | 5428 | POLG | Likely benign | 751357356 | RCV000758557; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867036 | 89867036 | | | NC_000015.9:g.89867036C>A | - | | |
NM_002693.3(POLG):c.2157+8G>T | 5428 | POLG | Likely benign | 548035719 | RCV000605167|RCV001447624; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867038 | 89867038 | | | 15:g.89867038C>A | ClinGen:CA274550072 | CN169374 not specified; | |
NM_002693.3(POLG):c.2157+8G>A | 5428 | POLG | Likely benign | 548035719 | RCV002205490; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867038 | 89867038 | | | 89867038 | - | | |
NM_002693.3(POLG):c.2157+8G>C | 5428 | POLG | Likely benign | -1 | RCV002947119; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867038 | 89867038 | | | NC_000015.9:g.89867038C>G | - | | |
NM_002693.3(POLG):c.2157+6C>T | 5428 | POLG | Uncertain significance | 1596354603 | RCV000815654; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867040 | 89867040 | | | 15:g.89867040G>A | - | | |
NM_002693.3(POLG):c.2157G>A (p.Leu719=) | 5428 | POLG | Uncertain significance | 2055432894 | RCV001051290; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867046 | 89867046 | | | 15:g.89867046C>T | - | | |
NM_002693.3(POLG):c.2153C>T (p.Ala718Val) | 5428 | POLG | Uncertain significance | 750036881 | RCV001773267|RCV002540583; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867050 | 89867050 | | | 89867050 | - | | |
NM_002693.3(POLG):c.2152G>T (p.Ala718Ser) | 5428 | POLG | Uncertain significance | 755783536 | RCV000529308|RCV000729971; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89867051 | 89867051 | | | 15:g.89867051C>A | ClinGen:CA7724581 | CN169374 not specified; | |
NM_002693.3(POLG):c.2149C>T (p.Leu717=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 779515404 | RCV000553320|RCV000731157|RCV002429363; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 89867054 | 89867054 | | | 15:g.89867054G>A | ClinGen:CA7724582 | CN169374 not specified; | |
NM_002693.3(POLG):c.2147C>T (p.Pro716Leu) | 5428 | POLG | Uncertain significance | -1 | RCV002299494; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867056 | 89867056 | | | 89867056 | - | | |
NM_002693.3(POLG):c.2146C>T (p.Pro716Ser) | 5428 | POLG | Uncertain significance | 796052883 | RCV000727298|RCV002517006; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867057 | 89867057 | | | 15:g.89867057G>A | ClinGen:CA316670 | CN169374 not specified; | |
NM_002693.3(POLG):c.2145A>T (p.Gln715His) | 5428 | POLG | Uncertain significance | 796052882 | RCV000188562|RCV001050634; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867058 | 89867058 | | | NC_000015.9:g.89867058T>A | ClinGen:CA316668 | CN169374 not specified; | |
NM_002693.3(POLG):c.2141G>C (p.Gly714Ala) | 5428 | POLG | Uncertain significance | 2152063163 | RCV001873112; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867062 | 89867062 | | | 89867062 | - | | |
NM_002693.3(POLG):c.2140G>A (p.Gly714Ser) | 5428 | POLG | Uncertain significance | 2055433258 | RCV001055737; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867063 | 89867063 | | | 15:g.89867063C>T | - | | |
NM_002693.3(POLG):c.2137C>T (p.Pro713Ser) | 5428 | POLG | Uncertain significance | -1 | RCV002602023; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867066 | 89867066 | | | NC_000015.9:g.89867066G>A | - | | |
NM_002693.3(POLG):c.2134G>A (p.Val712Met) | 5428 | POLG | Uncertain significance | 748834542 | RCV000540848|RCV001836838|RCV002420377; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 15 | 89867069 | 89867069 | | | NC_000015.9:g.89867069C>T | ClinGen:CA274550116 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2134G>T (p.Val712Leu) | 5428 | POLG | Uncertain significance | -1 | RCV002636010; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867069 | 89867069 | | | NC_000015.9:g.89867069C>A | - | | |
NM_002693.3(POLG):c.2133A>G (p.Ala711=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1567188446 | RCV000730753|RCV002535169; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867070 | 89867070 | | | NC_000015.9:g.89867070T>C | - | | |
NM_002693.3(POLG):c.2129C>T (p.Ala710Val) | 5428 | POLG | Uncertain significance | 2152063179 | RCV001875731; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867074 | 89867074 | | | 89867074 | - | | |
NM_002693.3(POLG):c.2128G>A (p.Ala710Thr) | 5428 | POLG | Uncertain significance | -1 | RCV002301436; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867075 | 89867075 | | | 89867075 | - | | |
NM_002693.3(POLG):c.2126G>A (p.Arg709Gln) | 5428 | POLG | Uncertain significance | 1015705626 | RCV000758298|RCV002281126; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89867077 | 89867077 | | | NC_000015.9:g.89867077C>T | - | | |
NM_002693.3(POLG):c.2125C>G (p.Arg709Gly) | 5428 | POLG | Uncertain significance | 867038717 | RCV000702167; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867078 | 89867078 | | | NC_000015.9:g.89867078G>C | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2125C>A (p.Arg709=) | 5428 | POLG | Likely benign | -1 | RCV002867492; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867078 | 89867078 | | | | - | | |
NM_002693.3(POLG):c.2124G>A (p.Leu708=) | 5428 | POLG | Likely benign | 1372249434 | RCV001430575; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867079 | 89867079 | | | 89867079 | - | | |
NM_002693.3(POLG):c.2122T>C (p.Leu708=) | 5428 | POLG | Likely benign | -1 | RCV002596831; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867081 | 89867081 | | | | - | | |
NM_002693.3(POLG):c.2121C>A (p.Asn707Lys) | 5428 | POLG | Conflicting interpretations of pathogenicity | 755502359 | RCV000430154|RCV000758297|RCV000995415; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89867082 | 89867082 | | | 15:g.89867082G>T | ClinGen:CA7724584 | CN169374 not specified; | |
NM_002693.3(POLG):c.2121C>T (p.Asn707=) | 5428 | POLG | Likely benign | -1 | RCV003100286; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867082 | 89867082 | | | | - | | |
NM_002693.3(POLG):c.2118G>A (p.Glu706=) | 5428 | POLG | Likely benign | 748699275 | RCV000758514|RCV001720101; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89867085 | 89867085 | | | 15:g.89867085C>T | ClinGen:CA7724586 | CN169374 not specified; | |
NM_002693.3(POLG):c.2115G>A (p.Met705Ile) | 5428 | POLG | Uncertain significance | 1302161574 | RCV001211619; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867088 | 89867088 | | | 15:g.89867088C>T | - | | |
NM_002693.3(POLG):c.2113A>G (p.Met705Val) | 5428 | POLG | Uncertain significance | 2152063192 | RCV001962830; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867090 | 89867090 | | | 89867090 | - | | |
NM_002693.3(POLG):c.2111A>C (p.Lys704Thr) | 5428 | POLG | Uncertain significance | 1049107490 | RCV000712790|RCV000758296; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867092 | 89867092 | | | NC_000015.9:g.89867092T>G | - | | |
NM_002693.3(POLG):c.2109C>A (p.Ala703=) | 5428 | POLG | Benign/Likely benign | 2307429 | RCV000118012|RCV000460792|RCV001121412|RCV002313914|RCV002483198; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MeSH:D030342,MedGen:C0950123|6 conditions | 15 | 89867094 | 89867094 | | | 15:g.89867094G>T | ClinGen:CA288982 | CN169374 not specified; | |
NM_002693.3(POLG):c.2109C>T (p.Ala703=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 2307429 | RCV000127519|RCV000869076|RCV001119423|RCV001289153|RCV002415617; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 89867094 | 89867094 | | | NC_000015.9:g.89867094G>A | ClinGen:CA292828 | CN169374 not specified; | |
NM_002693.3(POLG):c.2103T>C (p.Ala701=) | 5428 | POLG | Likely benign | 2152063194 | RCV002134336; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867100 | 89867100 | | | 89867100 | - | | |
NM_002693.3(POLG):c.2101G>A (p.Ala701Thr) | 5428 | POLG | Uncertain significance | 747214857 | RCV000188561|RCV002514033; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867102 | 89867102 | | | 15:g.89867102C>T | ClinGen:CA316666 | CN169374 not specified; | |
NM_002693.3(POLG):c.2100G>A (p.Glu700=) | 5428 | POLG | Likely benign | 771321898 | RCV000840095|RCV001433621; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867103 | 89867103 | | | 15:g.89867103C>T | - | | |
NM_002693.3(POLG):c.2098G>C (p.Glu700Gln) | 5428 | POLG | Uncertain significance | -1 | RCV002720387; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867105 | 89867105 | | | NC_000015.9:g.89867105C>G | - | | |
NM_002693.3(POLG):c.2097G>A (p.Val699=) | 5428 | POLG | Likely benign | 2152063210 | RCV002102407; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867106 | 89867106 | | | 89867106 | - | | |
NM_002693.3(POLG):c.2094A>C (p.Glu698Asp) | 5428 | POLG | Uncertain significance | 2152063213 | RCV001919959|RCV002478294; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89867109 | 89867109 | | | 89867109 | - | | |
NM_002693.3(POLG):c.2091A>G (p.Leu697=) | 5428 | POLG | Likely benign | -1 | RCV003091787; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867112 | 89867112 | | | | - | | |
NM_002693.3(POLG):c.2089T>A (p.Leu697Ile) | 5428 | POLG | Uncertain significance | -1 | RCV002846277; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867114 | 89867114 | | | NC_000015.9:g.89867114A>T | - | | |
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu) | 5428 | POLG | Uncertain significance | 776848222 | RCV000528399|RCV000732287|RCV000763989|RCV001847828; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|6 conditions|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685 | 15 | 89867118 | 89867118 | | | NC_000015.9:g.89867118A>C | ClinGen:CA316664 | CN169374 not specified; | |
NM_002693.3(POLG):c.2084A>G (p.Asp695Gly) | 5428 | POLG | Conflicting interpretations of pathogenicity | -1 | RCV002770374|RCV002800068; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89867119 | 89867119 | | | NC_000015.9:g.89867119T>C | - | | |
NM_002693.3(POLG):c.2080C>T (p.Leu694=) | 5428 | POLG | Likely benign | 369609849 | RCV001432988; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867123 | 89867123 | | | 89867123 | - | | |
NM_002693.3(POLG):c.2074GAA[1] (p.Glu693del) | 5428 | POLG | Uncertain significance | 760784347 | RCV000758447|RCV002477745; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89867124 | 89867126 | | | 15:g.89867124_89867126del | - | | |
NM_002693.3(POLG):c.2073A>C (p.Val691=) | 5428 | POLG | Uncertain significance | -1 | RCV002599150; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867130 | 89867130 | | | | - | | |
NM_002693.3(POLG):c.2071G>A (p.Val691Ile) | 5428 | POLG | Uncertain significance | 2152063222 | RCV001880937; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867132 | 89867132 | | | 89867132 | - | | |
NM_002693.3(POLG):c.2071-4C>T | 5428 | POLG | Likely benign | 1567188491 | RCV000758510; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867136 | 89867136 | | | NC_000015.9:g.89867136G>A | - | | |
NM_002693.3(POLG):c.2071-14T>G | 5428 | POLG | Conflicting interpretations of pathogenicity | 150088708 | RCV000127517|RCV000373859|RCV000758509; | N | MedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867146 | 89867146 | | | NC_000015.9:g.89867146A>C | ClinGen:CA292827 | CN169374 not specified; | |
NM_002693.3(POLG):c.2071-15C>T | 5428 | POLG | Likely benign | 1567188502 | RCV002088440; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867147 | 89867147 | | | 89867147 | - | | |
NM_002693.3(POLG):c.2071-16C>T | 5428 | POLG | Likely benign | 1426437060 | RCV002119451; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867148 | 89867148 | | | 89867148 | - | | |
NM_002693.3(POLG):c.2071-19G>A | 5428 | POLG | Uncertain significance | 1042766729 | RCV002017605; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867151 | 89867151 | | | 89867151 | - | | |
NM_002693.3(POLG):c.2071-19G>C | 5428 | POLG | Likely benign | -1 | RCV003093528; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867151 | 89867151 | | | NC_000015.9:g.89867151C>G | - | | |
NM_002693.3(POLG):c.2071-22T>C | 5428 | POLG | Benign | 2072267 | RCV000758397|RCV001595039|RCV001789363|RCV001789362|RCV001789364|RCV001789361; | N | MONDO: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|MON | 15 | 89867154 | 89867154 | | | NC_000015.9:g.89867154A>G | - | | |
NM_002693.3(POLG):c.2071-43C>T | 5428 | POLG | Likely benign | 753372873 | RCV000758511; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867175 | 89867175 | | | NC_000015.9:g.89867175G>A | - | | |
NM_002693.3(POLG):c.2071-48G>T | 5428 | POLG | Likely benign | 1293230481 | RCV000758512; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867180 | 89867180 | | | NC_000015.9:g.89867180C>A | - | | |
NM_002693.3(POLG):c.2070+27T>C | 5428 | POLG | Likely benign | 1259690556 | RCV000758508; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867311 | 89867311 | | | NC_000015.9:g.89867311A>G | - | | |
NM_002693.3(POLG):c.2070+19C>T | 5428 | POLG | Likely benign | -1 | RCV002638914; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867319 | 89867319 | | | NC_000015.9:g.89867319G>A | - | | |
NM_002693.3(POLG):c.2070+14C>G | 5428 | POLG | Likely benign | 1057520351 | RCV000441281|RCV002521533; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867324 | 89867324 | | | 15:g.89867324G>C | ClinGen:CA16607906 | CN169374 not specified; | |
NM_002693.3(POLG):c.2070+13T>G | 5428 | POLG | Likely benign | 778253752 | RCV002142434; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867325 | 89867325 | | | 89867325 | - | | |
NM_002693.3(POLG):c.2070+12C>T | 5428 | POLG | Likely benign | -1 | RCV002921986; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867326 | 89867326 | | | NC_000015.9:g.89867326G>A | - | | |
NM_002693.3(POLG):c.2070+11G>A | 5428 | POLG | Likely benign | 1030112179 | RCV002186667; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867327 | 89867327 | | | 89867327 | - | | |
NM_002693.3(POLG):c.2069C>T (p.Thr690Met) | 5428 | POLG | Uncertain significance | 201677865 | RCV000703278|RCV000763990|RCV001552406|RCV002316004; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 89867339 | 89867339 | | | 15:g.89867339G>A | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2062T>C (p.Trp688Arg) | 5428 | POLG | Uncertain significance | 2055437637 | RCV001984450; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867346 | 89867346 | | | 89867346 | - | | |
NM_002693.3(POLG):c.2054G>A (p.Ser685Asn) | 5428 | POLG | Uncertain significance | 775662032 | RCV000633546; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867354 | 89867354 | | | 15:g.89867354C>T | ClinGen:CA7724609 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.2052T>C (p.Asn684=) | 5428 | POLG | Uncertain significance | 919483524 | RCV001947293; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867356 | 89867356 | | | 89867356 | - | | |
NM_002693.3(POLG):c.2051A>G (p.Asn684Ser) | 5428 | POLG | Conflicting interpretations of pathogenicity | 202244328 | RCV000820821|RCV001705036|RCV002314740; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 89867357 | 89867357 | | | NC_000015.9:g.89867357T>C | ClinGen:CA316660 | CN169374 not specified; | |
NM_002693.3(POLG):c.2050A>C (p.Asn684His) | 5428 | POLG | Uncertain significance | 772035848 | RCV001351721; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867358 | 89867358 | | | 89867358 | - | | |
NM_002693.3(POLG):c.2047G>C (p.Asp683His) | 5428 | POLG | Uncertain significance | 2055438033 | RCV001300531; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867361 | 89867361 | | | 89867361 | - | | |
NM_002693.3(POLG):c.2047G>A (p.Asp683Asn) | 5428 | POLG | Uncertain significance | -1 | RCV002295219; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867361 | 89867361 | | | 89867361 | - | | |
NM_002693.3(POLG):c.2045C>G (p.Thr682Ser) | 5428 | POLG | Uncertain significance | 1328436909 | RCV000758446; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867363 | 89867363 | | | NC_000015.9:g.89867363G>C | - | | |
NM_002693.3(POLG):c.2040G>A (p.Leu680=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 367740265 | RCV001121413|RCV001410772|RCV001638040; | N | MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89867368 | 89867368 | | | 15:g.89867368C>T | - | | |
NM_002693.3(POLG):c.2038C>T (p.Leu680=) | 5428 | POLG | Likely benign | 373066911 | RCV000758367|RCV001697460; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89867370 | 89867370 | | | 15:g.89867370G>A | ClinGen:CA7724613 | CN169374 not specified; | |
NM_002693.3(POLG):c.2034G>A (p.Glu678=) | 5428 | POLG | Likely benign | -1 | RCV002857942; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867374 | 89867374 | | | | - | | |
NM_002693.3(POLG):c.2033A>G (p.Glu678Gly) | 5428 | POLG | Uncertain significance | 1469478675 | RCV001902331; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867375 | 89867375 | | | 89867375 | - | | |
NM_002693.3(POLG):c.2031G>A (p.Glu677=) | 5428 | POLG | Likely benign | 753362163 | RCV001437365|RCV003405664; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89867377 | 89867377 | | | 89867377 | - | | |
NM_002693.3(POLG):c.2028G>A (p.Ala676=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 373550219 | RCV000127516|RCV000457002|RCV000263177|RCV000710184|RCV001847749|RCV002415616; | N | MedGen: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:C0950123 | 15 | 89867380 | 89867380 | | | NC_000015.9:g.89867380C>T | ClinGen:CA292825 | CN169374 not specified; | |
NM_002693.3(POLG):c.2027C>T (p.Ala676Val) | 5428 | POLG | Conflicting interpretations of pathogenicity | 376306906 | RCV000552401|RCV000733276|RCV000763992|RCV002420318; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|6 conditions|MeSH:D030342,MedGen:C0950123 | 15 | 89867381 | 89867381 | | | 15:g.89867381G>A | ClinGen:CA7724615 | CN169374 not specified; | |
NM_002693.3(POLG):c.2026G>A (p.Ala676Thr) | 5428 | POLG | Uncertain significance | 752293938 | RCV000731955|RCV000810598; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867382 | 89867382 | | | NC_000015.9:g.89867382C>T | ClinGen:CA316658 | CN169374 not specified; | |
NM_002693.3(POLG):c.2022C>T (p.Gly674=) | 5428 | POLG | Likely benign | 778484334 | RCV001327879; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867386 | 89867386 | | | 89867386 | - | | |
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) | 5428 | POLG | Conflicting interpretations of pathogenicity | 200257554 | RCV000188510|RCV000633561|RCV000768054|RCV001121414|RCV001721213|RCV002317140; | N | MedGen: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; MON | 15 | 89867387 | 89867387 | | | NC_000015.9:g.89867387C>T | ClinGen:CA316585 | CN169374 not specified; | |
NM_002693.3(POLG):c.2020G>A (p.Gly674Ser) | 5428 | POLG | Uncertain significance | 538978071 | RCV000758445|RCV001766592; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89867388 | 89867388 | | | NC_000015.9:g.89867388C>T | - | | |
NM_002693.3(POLG):c.2019C>T (p.Ala673=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 557179508 | RCV000311062|RCV000758366; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867389 | 89867389 | | | 15:g.89867389G>A | ClinGen:CA7724619 | CN169374 not specified; | |
NM_002693.3(POLG):c.2014G>A (p.Glu672Lys) | 5428 | POLG | Uncertain significance | 779964885 | RCV001905065; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867394 | 89867394 | | | 89867394 | - | | |
NM_002693.3(POLG):c.2008C>G (p.Pro670Ala) | 5428 | POLG | Uncertain significance | -1 | RCV002625677; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867400 | 89867400 | | | NC_000015.9:g.89867400G>C | - | | |
NM_002693.3(POLG):c.2001G>A (p.Gln667=) | 5428 | POLG | Likely benign | -1 | RCV002599789; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867407 | 89867407 | | | | - | | |
NM_002693.3(POLG):c.1997A>T (p.Gln666Leu) | 5428 | POLG | Uncertain significance | 62640029 | RCV000188555|RCV001233916; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867411 | 89867411 | | | NC_000015.9:g.89867411T>A | ClinGen:CA316654 | CN169374 not specified; | |
NM_002693.3(POLG):c.1995G>A (p.Lys665=) | 5428 | POLG | Likely benign | 1411128697 | RCV002153944; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867413 | 89867413 | | | 89867413 | - | | |
NM_002693.3(POLG):c.1991G>A (p.Gly664Glu) | 5428 | POLG | Uncertain significance | 773073959 | RCV000597218|RCV000706577|RCV002315887; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89867417 | 89867417 | | | 15:g.89867417C>T | ClinGen:CA7724625 | CN169374 not specified; | |
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) | 5428 | POLG | Benign | 2307450 | RCV000020474|RCV000080022|RCV000224640|RCV000233567|RCV000320624|RCV001847610|RCV002311517; | N | MONDO: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,MedG | 15 | 89867424 | 89867424 | | | 15:g.89867424C>T | ClinGen:CA285511,UniProtKB:P54098#VAR_014907 | C0751651 Mitochondrial diseases; | |
NM_002693.3(POLG):c.1983C>T (p.Leu661=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 948431638 | RCV000593316|RCV001445211; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867425 | 89867425 | | | 15:g.89867425G>A | ClinGen:CA274550645 | CN169374 not specified; | |
NM_002693.3(POLG):c.1981C>G (p.Leu661Val) | 5428 | POLG | Uncertain significance | 2152063439 | RCV001976202; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867427 | 89867427 | | | 89867427 | - | | |
NM_002693.3(POLG):c.1978T>G (p.Cys660Gly) | 5428 | POLG | Uncertain significance | -1 | RCV002295785; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867430 | 89867430 | | | 89867430 | - | | |
NM_002693.3(POLG):c.1977C>T (p.His659=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 62640030 | RCV000730709|RCV001455893; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867431 | 89867431 | | | NC_000015.9:g.89867431G>A | - | | |
NM_002693.3(POLG):c.1976A>C (p.His659Pro) | 5428 | POLG | Uncertain significance | 1325564562 | RCV001300585|RCV002473258; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89867432 | 89867432 | | | 89867432 | - | | |
NM_002693.3(POLG):c.1974G>C (p.Lys658Asn) | 5428 | POLG | Uncertain significance | 1229982179 | RCV001896672; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867434 | 89867434 | | | 89867434 | - | | |
NM_002693.3(POLG):c.1968C>T (p.Tyr656=) | 5428 | POLG | Likely benign | 765009891 | RCV001468895; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867440 | 89867440 | | | 15:g.89867440G>A | - | | |
NM_002693.3(POLG):c.1966T>A (p.Tyr656Asn) | 5428 | POLG | Uncertain significance | 2152063453 | RCV001365223; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867442 | 89867442 | | | 89867442 | - | | |
NM_002693.3(POLG):c.1965G>A (p.Leu655=) | 5428 | POLG | Likely benign | 543910258 | RCV000601182|RCV000633562; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867443 | 89867443 | | | 15:g.89867443C>T | ClinGen:CA7724630 | CN169374 not specified; | |
NM_002693.3(POLG):c.1962C>T (p.Ser654=) | 5428 | POLG | Likely benign | 1555453192 | RCV000527541; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867446 | 89867446 | | | 15:g.89867446G>A | ClinGen:CA492289417 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1958A>T (p.Glu653Val) | 5428 | POLG | Uncertain significance | 752073900 | RCV000811158|RCV001766695; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89867450 | 89867450 | | | 15:g.89867450T>A | - | | |
NM_002693.3(POLG):c.1956C>T (p.Ile652=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 757860628 | RCV000174067|RCV000724790|RCV001413886; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867452 | 89867452 | | | 15:g.89867452G>A | ClinGen:CA239534 | CN169374 not specified; | |
NM_002693.3(POLG):c.1954A>G (p.Ile652Val) | 5428 | POLG | Uncertain significance | 767751301 | RCV001368959; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867454 | 89867454 | | | 89867454 | - | | |
NM_002693.3(POLG):c.1950A>G (p.Arg650=) | 5428 | POLG | Uncertain significance | -1 | RCV002657757; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867458 | 89867458 | | | | - | | |
NM_002693.3(POLG):c.1950-3C>T | 5428 | POLG | Uncertain significance | 750837914 | RCV001317705; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867461 | 89867461 | | | 89867461 | - | | |
NM_002693.3(POLG):c.1950-9T>C | 5428 | POLG | Benign/Likely benign | 780378329 | RCV000188509|RCV000758556; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867467 | 89867467 | | | NC_000015.9:g.89867467A>G | ClinGen:CA316584 | CN169374 not specified; | |
NM_002693.3(POLG):c.1950-10C>A | 5428 | POLG | Uncertain significance | 749522324 | RCV001339811|RCV001664840; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89867468 | 89867468 | | | 89867468 | - | | |
NM_002693.3(POLG):c.1950-12T>C | 5428 | POLG | Likely benign | 1044074988 | RCV002117572; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867470 | 89867470 | | | 89867470 | - | | |
NM_002693.3(POLG):c.1950-13G>C | 5428 | POLG | Likely benign | 577747971 | RCV000431891|RCV002062701; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867471 | 89867471 | | | 15:g.89867471C>G | ClinGen:CA7724638 | CN169374 not specified; | |
NM_002693.3(POLG):c.1950-16A>C | 5428 | POLG | Likely benign | 1310096810 | RCV000758363; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867474 | 89867474 | | | NC_000015.9:g.89867474T>G | - | | |
NM_002693.3(POLG):c.1950-28GCT[3] | 5428 | POLG | Likely benign | -1 | RCV002593963; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867475 | 89867477 | | | NC_000015.9:g.89867475AGC[3] | - | | |
NM_002693.3(POLG):c.1950-21C>T | 5428 | POLG | Benign | 2307452 | RCV000758396; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867479 | 89867479 | | | NC_000015.9:g.89867479G>A | - | | |
NM_002693.3(POLG):c.1950-32_1950-30del | 5428 | POLG | Likely benign | 1567188748 | RCV000758364; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867488 | 89867490 | | | NC_000015.9:g.89867489_89867491del | - | | |
NM_002693.3(POLG):c.1950-43A>G | 5428 | POLG | Benign | 74596434 | RCV000758365; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89867501 | 89867501 | | | NC_000015.9:g.89867501T>C | - | | |
NM_002693.3(POLG):c.1949+44C>A | 5428 | POLG | Likely benign | 762378430 | RCV000758362; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868637 | 89868637 | | | NC_000015.9:g.89868637G>T | - | | |
NM_002693.3(POLG):c.1949+20G>C | 5428 | POLG | Benign/Likely benign | 371964664 | RCV000127567|RCV000758361; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868661 | 89868661 | | | NC_000015.9:g.89868661C>G | ClinGen:CA292884 | CN169374 not specified; | |
NC_000015.9:g.(?_89868661)_(89873527_?)dup | 5428 | POLG | Uncertain significance | -1 | RCV000633574; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868661 | 89873527 | | | | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1949+19G>A | 5428 | POLG | Likely benign | 1279489966 | RCV002131299; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868662 | 89868662 | | | 89868662 | - | | |
NM_002693.3(POLG):c.1949+17G>A | 5428 | POLG | Likely benign | -1 | RCV003029416; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868664 | 89868664 | | | NC_000015.9:g.89868664C>T | - | | |
NM_002693.3(POLG):c.1949+16A>G | 5428 | POLG | Likely benign | 766654932 | RCV002135394; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868665 | 89868665 | | | 89868665 | - | | |
NM_002693.3(POLG):c.1949+14C>T | 5428 | POLG | Likely benign | 754016118 | RCV000758395; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868667 | 89868667 | | | NC_000015.9:g.89868667G>A | - | | |
NM_002693.3(POLG):c.1949+13C>G | 5428 | POLG | Likely benign | -1 | RCV002670885; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868668 | 89868668 | | | NC_000015.9:g.89868668G>C | - | | |
NM_002693.3(POLG):c.1949+12G>C | 5428 | POLG | Likely benign | 2055501824 | RCV002167208; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868669 | 89868669 | | | 89868669 | - | | |
NM_002693.3(POLG):c.1949+12G>A | 5428 | POLG | Likely benign | -1 | RCV002842949; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868669 | 89868669 | | | NC_000015.9:g.89868669C>T | - | | |
NM_002693.3(POLG):c.1949+3A>G | 5428 | POLG | Conflicting interpretations of pathogenicity | 1057523710 | RCV000698969|RCV001698296; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89868678 | 89868678 | | | 15:g.89868678T>C | ClinGen:CA16607067 | CN169374 not specified; | |
NM_002693.3(POLG):c.1947C>T (p.Tyr649=) | 5428 | POLG | Likely benign | 1465650547 | RCV002110958; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868683 | 89868683 | | | 89868683 | - | | |
NM_002693.3(POLG):c.1946A>T (p.Tyr649Phe) | 5428 | POLG | Uncertain significance | 972392438 | RCV001226951; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868684 | 89868684 | | | 15:g.89868684T>A | - | | |
NM_002693.3(POLG):c.1937T>G (p.Val646Gly) | 5428 | POLG | Uncertain significance | -1 | RCV003059335; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868693 | 89868693 | | | NC_000015.9:g.89868693A>C | - | | |
NM_002693.3(POLG):c.1936G>T (p.Val646Phe) | 5428 | POLG | Uncertain significance | 757131755 | RCV001339843|RCV002486364; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89868694 | 89868694 | | | 89868694 | - | | |
NM_002693.3(POLG):c.1933G>T (p.Val645Leu) | 5428 | POLG | Uncertain significance | -1 | RCV003074607; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868697 | 89868697 | | | NC_000015.9:g.89868697C>A | - | | |
NM_002693.3(POLG):c.1930G>A (p.Gly644Arg) | 5428 | POLG | Uncertain significance | 1156534099 | RCV002009692; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868700 | 89868700 | | | 89868700 | - | | |
NM_002693.3(POLG):c.1930G>C (p.Gly644Arg) | 5428 | POLG | Uncertain significance | -1 | RCV002727072; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868700 | 89868700 | | | NC_000015.9:g.89868700C>G | - | | |
NM_002693.3(POLG):c.1929T>C (p.Ala643=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 745800212 | RCV000732926|RCV001421051; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868701 | 89868701 | | | NC_000015.9:g.89868701A>G | - | | |
NM_002693.3(POLG):c.1926A>T (p.Ser642=) | 5428 | POLG | Likely benign | 2055502648 | RCV002182692|RCV002407353; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89868704 | 89868704 | | | 89868704 | - | | |
NM_002693.3(POLG):c.1918C>T (p.Leu640=) | 5428 | POLG | Likely benign | 2152065811 | RCV002156419; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868712 | 89868712 | | | 89868712 | - | | |
NM_002693.3(POLG):c.1912A>G (p.Thr638Ala) | 5428 | POLG | Uncertain significance | 1567190199 | RCV000728790|RCV002535095; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868718 | 89868718 | | | NC_000015.9:g.89868718T>C | - | | |
NM_002693.3(POLG):c.1910G>A (p.Gly637Asp) | 5428 | POLG | Uncertain significance | 748925763 | RCV001121415|RCV002252319|RCV003130159|RCV002556613; | N | MedGen:C4763519||MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868720 | 89868720 | | | 15:g.89868720C>T | - | | |
NM_002693.3(POLG):c.1909G>T (p.Gly637Cys) | 5428 | POLG | Uncertain significance | 2152065820 | RCV001943386; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868721 | 89868721 | | | 89868721 | - | | |
NM_002693.3(POLG):c.1909G>C (p.Gly637Arg) | 5428 | POLG | Uncertain significance | -1 | RCV002295074; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868721 | 89868721 | | | 89868721 | - | | |
NM_002693.3(POLG):c.1908A>G (p.Thr636=) | 5428 | POLG | Likely benign | 1596356880 | RCV001465850; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868722 | 89868722 | | | 15:g.89868722T>C | - | | |
NM_002693.3(POLG):c.1907C>G (p.Thr636Arg) | 5428 | POLG | Uncertain significance | 917815816 | RCV001899748|RCV002490000; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89868723 | 89868723 | | | 89868723 | - | | |
NM_002693.3(POLG):c.1905G>A (p.Pro635=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 550592814 | RCV000377537|RCV000429004|RCV000732052|RCV001482698; | N | MedGen:C4763519|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868725 | 89868725 | | | NC_000015.9:g.89868725C>T | ClinGen:CA7724665 | CN169374 not specified; | |
NM_002693.3(POLG):c.1905G>T (p.Pro635=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 550592814 | RCV000430127|RCV000712789|RCV000758360; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868725 | 89868725 | | | 15:g.89868725C>A | ClinGen:CA10602209 | CN169374 not specified; | |
NM_002693.3(POLG):c.1904C>T (p.Pro635Leu) | 5428 | POLG | Uncertain significance | 773994204 | RCV000758443|RCV001705035; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89868726 | 89868726 | | | NC_000015.9:g.89868726G>A | ClinGen:CA316652 | CN169374 not specified; | |
NM_002693.3(POLG):c.1899G>C (p.Lys633Asn) | 5428 | POLG | Uncertain significance | -1 | RCV003013669; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868731 | 89868731 | | | NC_000015.9:g.89868731C>G | - | | |
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr) | 5428 | POLG | Conflicting interpretations of pathogenicity | 568913937 | RCV000188670|RCV000551532|RCV000732615|RCV001116517; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MedGen:C4763519 | 15 | 89868732 | 89868732 | | | NC_000015.9:g.89868732T>G | ClinGen:CA316852 | CN169374 not specified; | |
NM_002693.3(POLG):c.1894G>A (p.Ala632Thr) | 5428 | POLG | Uncertain significance | 908875872 | RCV000733916|RCV000758442; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868736 | 89868736 | | | NC_000015.9:g.89868736C>T | - | | |
NM_002693.3(POLG):c.1890C>T (p.Asn630=) | 5428 | POLG | Benign/Likely benign | 148658588 | RCV000127566|RCV000534504|RCV000858666|RCV002408635; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 89868740 | 89868740 | | | NC_000015.9:g.89868740G>A | ClinGen:CA292882 | CN169374 not specified; | |
NM_002693.3(POLG):c.1887C>T (p.Asp629=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 886051524 | RCV000344383|RCV000602628|RCV000758359; | N | MedGen:C4763519|MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868743 | 89868743 | | | NC_000015.9:g.89868743G>A | ClinGen:CA10602207 | CN169374 not specified; | |
NM_002693.3(POLG):c.1887C>G (p.Asp629Glu) | 5428 | POLG | Uncertain significance | 886051524 | RCV000633542; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868743 | 89868743 | | | 15:g.89868743G>C | ClinGen:CA393759147 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1886A>C (p.Asp629Ala) | 5428 | POLG | Uncertain significance | 1039182766 | RCV000487373|RCV001116518|RCV001856881; | N | MedGen:C3661900|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868744 | 89868744 | | | 15:g.89868744T>G | ClinGen:CA16620022 | CN169374 not specified; | |
NM_002693.3(POLG):c.1885G>C (p.Asp629His) | 5428 | POLG | Uncertain significance | 1555453424 | RCV000526608; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868745 | 89868745 | | | NC_000015.9:g.89868745C>G | ClinGen:CA393759155 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1883G>A (p.Arg628Gln) | 5428 | POLG | Conflicting interpretations of pathogenicity | 201871736 | RCV000188553|RCV001171906|RCV001319474; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868747 | 89868747 | | | NC_000015.9:g.89868747C>T | ClinGen:CA316650 | CN169374 not specified; | |
NM_002693.3(POLG):c.1882C>T (p.Arg628Trp) | 5428 | POLG | Uncertain significance | 754245040 | RCV000550612|RCV000763993; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89868748 | 89868748 | | | NC_000015.9:g.89868748G>A | ClinGen:CA7724668 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1874C>T (p.Pro625Leu) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1064794214 | RCV000478890|RCV000758441; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868756 | 89868756 | | | 15:g.89868756G>A | ClinGen:CA10602206 | CN517202 not provided; | |
NM_002693.3(POLG):c.1872G>A (p.Val624=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 765506021 | RCV000545151|RCV000609746|RCV001848932; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685 | 15 | 89868758 | 89868758 | | | NC_000015.9:g.89868758C>T | ClinGen:CA492289266 | CN169374 not specified; | |
NM_002693.3(POLG):c.1872G>T (p.Val624=) | 5428 | POLG | Likely benign | -1 | RCV002617677; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868758 | 89868758 | | | | - | | |
NM_002693.3(POLG):c.1870G>A (p.Val624Met) | 5428 | POLG | Uncertain significance | 1362000189 | RCV001932423|RCV003303245; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89868760 | 89868760 | | | 89868760 | - | | |
NM_002693.3(POLG):c.1869G>A (p.Leu623=) | 5428 | POLG | Likely benign | 752933920 | RCV001945718; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868761 | 89868761 | | | 89868761 | - | | |
NM_002693.3(POLG):c.1868T>G (p.Leu623Trp) | 5428 | POLG | Conflicting interpretations of pathogenicity | 758438414 | RCV000188668|RCV001336494; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868762 | 89868762 | | | NC_000015.9:g.89868762A>C | ClinGen:CA316848 | CN517202 not provided; | |
NM_002693.3(POLG):c.1867T>C (p.Leu623=) | 5428 | POLG | Likely benign | 548491099 | RCV000615152|RCV000951573; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868763 | 89868763 | | | 15:g.89868763A>G | ClinGen:CA7724673 | CN169374 not specified; | |
NM_002693.3(POLG):c.1865A>C (p.Tyr622Ser) | 5428 | POLG | Uncertain significance | 892010680 | RCV001996897; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868765 | 89868765 | | | 89868765 | - | | |
NM_002693.3(POLG):c.1851T>C (p.Arg617=) | 5428 | POLG | Likely benign | 2152065878 | RCV002218171; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868779 | 89868779 | | | 89868779 | - | | |
NM_002693.3(POLG):c.1850G>A (p.Arg617His) | 5428 | POLG | Conflicting interpretations of pathogenicity | 779961986 | RCV000725018|RCV000758555|RCV002519104; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89868780 | 89868780 | | | 15:g.89868780C>T | ClinGen:CA7724675 | CN169374 not specified; | |
NM_002693.3(POLG):c.1850G>C (p.Arg617Pro) | 5428 | POLG | Uncertain significance | -1 | RCV003116891; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868780 | 89868780 | | | NC_000015.9:g.89868780C>G | - | | |
NM_002693.3(POLG):c.1849C>T (p.Arg617Cys) | 5428 | POLG | Uncertain significance | 144374017 | RCV000758409; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868781 | 89868781 | | | NC_000015.9:g.89868781G>A | - | | |
NM_002693.3(POLG):c.1842C>T (p.Tyr614=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 62640033 | RCV000729059|RCV001502376; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868788 | 89868788 | | | NC_000015.9:g.89868788G>A | - | | |
NM_002693.3(POLG):c.1840T>C (p.Tyr614His) | 5428 | POLG | Uncertain significance | -1 | RCV002643750|RCV003329462; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89868790 | 89868790 | | | NC_000015.9:g.89868790A>G | - | | |
NM_002693.3(POLG):c.1838A>G (p.His613Arg) | 5428 | POLG | Uncertain significance | -1 | RCV002627799; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868792 | 89868792 | | | NC_000015.9:g.89868792T>C | - | | |
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) | 5428 | POLG | Conflicting interpretations of pathogenicity | 147407423 | RCV000173762|RCV000538134|RCV000710183|RCV000768055|RCV001263354|RCV002313026; | N | MedGen: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,Orp | 15 | 89868793 | 89868793 | | | 15:g.89868793G>A | ClinGen:CA302712 | CN169374 not specified; | |
NM_002693.3(POLG):c.1837C>G (p.His613Asp) | 5428 | POLG | Uncertain significance | -1 | RCV002917155; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868793 | 89868793 | | | NC_000015.9:g.89868793G>C | - | | |
NM_002693.3(POLG):c.1836G>A (p.Leu612=) | 5428 | POLG | Likely benign | -1 | RCV002856662; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868794 | 89868794 | | | | - | | |
NM_002693.3(POLG):c.1831C>T (p.Pro611Ser) | 5428 | POLG | Uncertain significance | -1 | RCV002814983; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868799 | 89868799 | | | NC_000015.9:g.89868799G>A | - | | |
NM_002693.3(POLG):c.1830C>T (p.Phe610=) | 5428 | POLG | Benign/Likely benign | 771566653 | RCV000633573|RCV001644716; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89868800 | 89868800 | | | 15:g.89868800G>A | ClinGen:CA7724679 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1814_1815delinsGC (p.Leu605Arg) | 5428 | POLG | Uncertain significance | 2152065907 | RCV001909441; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868815 | 89868816 | | | 89868815 | - | | |
NM_002693.3(POLG):c.1813C>G (p.Leu605Val) | 5428 | POLG | Uncertain significance | -1 | RCV003034183; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868817 | 89868817 | | | NC_000015.9:g.89868817G>C | - | | |
NM_002693.3(POLG):c.1808T>C (p.Met603Thr) | 5428 | POLG | Conflicting interpretations of pathogenicity | 367610201 | RCV000188667|RCV001348402|RCV001814096|RCV001847837|RCV003226244; | N | MedGen: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,Orphan | 15 | 89868822 | 89868822 | | | NC_000015.9:g.89868822A>G | ClinGen:CA316846 | CN517202 not provided; | |
NM_002693.3(POLG):c.1806C>T (p.Leu602=) | 5428 | POLG | Likely benign | -1 | RCV002881288; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868824 | 89868824 | | | | - | | |
NM_002693.3(POLG):c.1798C>T (p.Pro600Ser) | 5428 | POLG | Uncertain significance | 759840237 | RCV001209342|RCV003132272; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89868832 | 89868832 | | | 15:g.89868832G>A | - | | |
NM_002693.3(POLG):c.1797A>T (p.Thr599=) | 5428 | POLG | Likely benign | 775651351 | RCV000758357; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868833 | 89868833 | | | NC_000015.9:g.89868833T>A | - | | |
NM_002693.3(POLG):c.1797A>C (p.Thr599=) | 5428 | POLG | Likely benign | -1 | RCV002770479; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868833 | 89868833 | | | | - | | |
NM_002693.3(POLG):c.1795A>C (p.Thr599Pro) | 5428 | POLG | Uncertain significance | 1064796458 | RCV000486915|RCV000633550; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868835 | 89868835 | | | 15:g.89868835T>G | ClinGen:CA16620023 | CN169374 not specified; | |
NM_002693.3(POLG):c.1794C>G (p.Val598=) | 5428 | POLG | Likely benign | -1 | RCV002604296; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868836 | 89868836 | | | | - | | |
NM_002693.3(POLG):c.1790G>A (p.Arg597Gln) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1001570418 | RCV000699074|RCV001546774|RCV003230576; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MedGen:CN169374 | 15 | 89868840 | 89868840 | | | NC_000015.9:g.89868840C>T | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1781T>C (p.Leu594Pro) | 5428 | POLG | Uncertain significance | 2055505934 | RCV001240446; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868849 | 89868849 | | | 15:g.89868849A>G | - | | |
NM_002693.3(POLG):c.1780C>T (p.Leu594=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 778172428 | RCV001289152|RCV002070095; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868850 | 89868850 | | | 89868850 | - | | |
NM_002693.3(POLG):c.1779C>T (p.Ser593=) | 5428 | POLG | Likely benign | 1199472537 | RCV002194714; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868851 | 89868851 | | | 89868851 | - | | |
NM_002693.3(POLG):c.1774C>T (p.Leu592Phe) | 5428 | POLG | Uncertain significance | -1 | RCV003007198; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868856 | 89868856 | | | NC_000015.9:g.89868856G>A | - | | |
NM_002693.3(POLG):c.1772T>G (p.Leu591Arg) | 5428 | POLG | Uncertain significance | 756072588 | RCV001346080|RCV001815542; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89868858 | 89868858 | | | 89868858 | - | | |
NM_002693.3(POLG):c.1764C>T (p.Gly588=) | 5428 | POLG | Likely benign | 753839110 | RCV001487915|RCV001720076; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89868866 | 89868866 | | | 15:g.89868866G>A | ClinGen:CA7724691 | CN169374 not specified; | |
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp) | 5428 | POLG | Conflicting interpretations of pathogenicity | 371334941 | RCV000413337|RCV000557537|RCV001805034; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374 | 15 | 89868867 | 89868867 | | | 15:g.89868867C>T | ClinGen:CA10602201 | CN517202 not provided; | |
NM_002693.3(POLG):c.1761G>A (p.Pro587=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 374805003 | RCV000500619|RCV000758356|RCV003133285; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89868869 | 89868869 | | | NC_000015.9:g.89868869C>T | ClinGen:CA7724692 | CN169374 not specified; | |
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) | 5428 | POLG | Conflicting interpretations of pathogenicity | 113994096 | RCV000014456|RCV000020473|RCV000186576|RCV000193529|RCV000408293|RCV000415307|RCV000427845|RCV000508752|RCV001004602|RCV001610290|RCV001642226|RCV001813986|RCV001847603|RCV001813743|RCV002227034|RCV002313709|RCV002319424|RCV003458332; | N | MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041, Orphanet:298|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orp | 15 | 89868870 | 89868870 | | | 15:g.89868870G>A | ClinVar:1698500,ClinGen:CA123146,UniProtKB:P54098#VAR_023671,OMIM:174763.0011 | C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; | |
NM_002693.3(POLG):c.1758C>T (p.Thr586=) | 5428 | POLG | Likely benign | -1 | RCV002574103; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868872 | 89868872 | | | | - | | |
NM_002693.3(POLG):c.1757C>T (p.Thr586Ile) | 5428 | POLG | Uncertain significance | -1 | RCV002401617|RCV003097215; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868873 | 89868873 | | | 89868873 | - | | |
NM_002693.3(POLG):c.1756A>G (p.Thr586Ala) | 5428 | POLG | Uncertain significance | 1596357095 | RCV001879138; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868874 | 89868874 | | | 89868874 | - | | |
NM_002693.3(POLG):c.1753T>A (p.Trp585Arg) | 5428 | POLG | Uncertain significance | 2152065960 | RCV001875110; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868877 | 89868877 | | | 89868877 | - | | |
NM_002693.3(POLG):c.1752A>C (p.Ala584=) | 5428 | POLG | Likely benign | 150929445 | RCV000426564|RCV000556608|RCV002411319; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89868878 | 89868878 | | | 15:g.89868878T>G | ClinGen:CA7724693 | CN169374 not specified; | |
NM_002693.3(POLG):c.1752A>G (p.Ala584=) | 5428 | POLG | Likely benign | 150929445 | RCV000537197; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868878 | 89868878 | | | NC_000015.9:g.89868878T>C | ClinGen:CA492289511 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1750G>T (p.Ala584Ser) | 5428 | POLG | Uncertain significance | -1 | RCV002297862; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868880 | 89868880 | | | 89868880 | - | | |
NM_002693.3(POLG):c.1747C>T (p.Pro583Ser) | 5428 | POLG | Uncertain significance | -1 | RCV003092040; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868883 | 89868883 | | | NC_000015.9:g.89868883G>A | - | | |
NM_002693.3(POLG):c.1744G>A (p.Asp582Asn) | 5428 | POLG | Uncertain significance | 746560565 | RCV000188665|RCV001307628; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868886 | 89868886 | | | NC_000015.9:g.89868886C>T | ClinGen:CA316844 | CN169374 not specified; | |
NM_002693.3(POLG):c.1743C>T (p.Asp581=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 140743000 | RCV000127565|RCV000382683|RCV000758355|RCV002312592|RCV003398746; | N | MedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:C3661900 | 15 | 89868887 | 89868887 | | | NC_000015.9:g.89868887G>A | ClinGen:CA292880 | CN169374 not specified; | |
NM_002693.3(POLG):c.1742A>G (p.Asp581Gly) | 5428 | POLG | Uncertain significance | -1 | RCV002632178; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868888 | 89868888 | | | NC_000015.9:g.89868888T>C | - | | |
NM_002693.3(POLG):c.1738C>G (p.Leu580Val) | 5428 | POLG | Uncertain significance | 2152065984 | RCV001893159; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868892 | 89868892 | | | 89868892 | - | | |
NM_002693.3(POLG):c.1736G>A (p.Arg579Gln) | 5428 | POLG | Uncertain significance | 746406535 | RCV000733389|RCV000758295|RCV002315444|RCV003323700; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:CN169374 | 15 | 89868894 | 89868894 | | | NC_000015.9:g.89868894C>T | - | | |
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp) | 5428 | POLG | Conflicting interpretations of pathogenicity | 556925652 | RCV000544202|RCV001584248; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89868895 | 89868895 | | | NC_000015.9:g.89868895G>A | ClinGen:CA7724698 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1732C>A (p.Pro578Thr) | 5428 | POLG | Uncertain significance | 775769107 | RCV002003369; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868898 | 89868898 | | | 89868898 | - | | |
NM_002693.3(POLG):c.1728C>A (p.Leu576=) | 5428 | POLG | Likely benign | 763204640 | RCV001448345; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868902 | 89868902 | | | 15:g.89868902G>T | - | | |
NM_002693.3(POLG):c.1728C>G (p.Leu576=) | 5428 | POLG | Likely benign | 763204640 | RCV002163859; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868902 | 89868902 | | | 89868902 | - | | |
NM_002693.3(POLG):c.1723A>C (p.Lys575Gln) | 5428 | POLG | Uncertain significance | 1379482879 | RCV000531741|RCV000728094; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89868907 | 89868907 | | | NC_000015.9:g.89868907T>G | ClinGen:CA393759496 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln) | 5428 | POLG | Conflicting interpretations of pathogenicity | 764287987 | RCV000758294|RCV000791102|RCV001585689|RCV003117542; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN180166|MedGen:C3661900|MedGen:CN169374 | 15 | 89868909 | 89868909 | | | NC_000015.9:g.89868909C>T | - | | |
NM_002693.3(POLG):c.1713-4G>A | 5428 | POLG | Conflicting interpretations of pathogenicity | 201857960 | RCV000758293; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868921 | 89868921 | | | NC_000015.9:g.89868921C>T | - | | |
NM_002693.3(POLG):c.1713-5C>T | 5428 | POLG | Benign/Likely benign | 148494026 | RCV000127564|RCV000758408; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868922 | 89868922 | | | NC_000015.9:g.89868922G>A | ClinGen:CA292879 | CN169374 not specified; | |
NM_002693.3(POLG):c.1713-8G>C | 5428 | POLG | Likely benign | 369804413 | RCV001430434; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868925 | 89868925 | | | 89868925 | - | | |
NM_002693.3(POLG):c.1713-11C>T | 5428 | POLG | Likely benign | 1376554827 | RCV002097789; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868928 | 89868928 | | | 89868928 | - | | |
NM_002693.3(POLG):c.1713-16T>G | 5428 | POLG | Uncertain significance | -1 | RCV003023208; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868933 | 89868933 | | | NC_000015.9:g.89868933A>C | - | | |
NM_002693.3(POLG):c.1713-18C>T | 5428 | POLG | Likely benign | 1298520719 | RCV000842504|RCV002064403; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868935 | 89868935 | | | 15:g.89868935G>A | - | | |
NM_002693.3(POLG):c.1713-20G>C | 5428 | POLG | Likely benign | 2055507868 | RCV002143791; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868937 | 89868937 | | | 89868937 | - | | |
NM_002693.3(POLG):c.1713-31G>A | 5428 | POLG | Benign | 3176191 | RCV000758393; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89868948 | 89868948 | | | NC_000015.9:g.89868948C>T | - | | |
NM_002693.3(POLG):c.1713-32C>T | 5428 | POLG | Benign | 3176190 | RCV000758394|RCV001615049; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89868949 | 89868949 | | | NC_000015.9:g.89868949G>A | - | | |
NM_002693.3(POLG):c.1712+19C>G | 5428 | POLG | Likely benign | -1 | RCV002681807; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869824 | 89869824 | | | NC_000015.9:g.89869824G>C | - | | |
NM_002693.3(POLG):c.1712+18C>T | 5428 | POLG | Likely benign | 759511776 | RCV002200567; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869825 | 89869825 | | | 89869825 | - | | |
NM_002693.3(POLG):c.1712+16C>T | 5428 | POLG | Likely benign | -1 | RCV002917555; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869827 | 89869827 | | | NC_000015.9:g.89869827G>A | - | | |
NM_002693.3(POLG):c.1712+10G>A | 5428 | POLG | Benign/Likely benign | 55962804 | RCV000127563|RCV000543278|RCV001116519; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519 | 15 | 89869833 | 89869833 | | | NC_000015.9:g.89869833C>T | ClinGen:CA292878 | CN169374 not specified; | |
NM_002693.3(POLG):c.1712+4A>C | 5428 | POLG | Uncertain significance | 1555453528 | RCV000555695; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869839 | 89869839 | | | NC_000015.9:g.89869839T>G | ClinGen:CA658658321 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1712G>C (p.Gly571Ala) | 5428 | POLG | Uncertain significance | -1 | RCV003048851; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869843 | 89869843 | | | NC_000015.9:g.89869843C>G | - | | |
NM_002693.3(POLG):c.1709C>G (p.Pro570Arg) | 5428 | POLG | Uncertain significance | 780695124 | RCV001933204; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869846 | 89869846 | | | 89869846 | - | | |
NM_002693.3(POLG):c.1709C>T (p.Pro570Leu) | 5428 | POLG | Uncertain significance | 780695124 | RCV001881743|RCV002307782; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89869846 | 89869846 | | | 89869846 | - | | |
NM_002693.3(POLG):c.1696C>A (p.Leu566Ile) | 5428 | POLG | Uncertain significance | 559937676 | RCV001878376|RCV002305628; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89869859 | 89869859 | | | 89869859 | - | | |
NM_002693.3(POLG):c.1692G>A (p.Gln564=) | 5428 | POLG | Likely benign | 149687731 | RCV002136159; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869863 | 89869863 | | | 89869863 | - | | |
NM_002693.3(POLG):c.1688C>T (p.Pro563Leu) | 5428 | POLG | Uncertain significance | -1 | RCV002944128; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869867 | 89869867 | | | NC_000015.9:g.89869867G>A | - | | |
NM_002693.3(POLG):c.1684C>T (p.Arg562Trp) | 5428 | POLG | Uncertain significance | 756952607 | RCV000758407|RCV000992683; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89869871 | 89869871 | | | NC_000015.9:g.89869871G>A | - | | |
NM_002693.3(POLG):c.1682A>G (p.Lys561Arg) | 5428 | POLG | Uncertain significance | 1350960257 | RCV000992682|RCV001858752; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869873 | 89869873 | | | 15:g.89869873T>C | - | | |
NM_002693.3(POLG):c.1680C>A (p.Pro560=) | 5428 | POLG | Likely benign | -1 | RCV002889747; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869875 | 89869875 | | | | - | | |
NM_002693.3(POLG):c.1680C>T (p.Pro560=) | 5428 | POLG | Likely benign | -1 | RCV003046751; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869875 | 89869875 | | | | - | | |
NM_002693.3(POLG):c.1679C>T (p.Pro560Leu) | 5428 | POLG | Uncertain significance | 2055522032 | RCV001894963; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869876 | 89869876 | | | 89869876 | - | | |
NM_002693.3(POLG):c.1674C>G (p.Leu558=) | 5428 | POLG | Benign/Likely benign | 552085869 | RCV000188552|RCV000758291; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869881 | 89869881 | | | NC_000015.9:g.89869881G>C | ClinGen:CA316648 | CN169374 not specified; | |
NM_002693.3(POLG):c.1674C>T (p.Leu558=) | 5428 | POLG | Likely benign | 552085869 | RCV002202886; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869881 | 89869881 | | | 89869881 | - | | |
NM_002693.3(POLG):c.1672C>G (p.Leu558Val) | 5428 | POLG | Uncertain significance | 1411219168 | RCV000554779|RCV002527689; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89869883 | 89869883 | | | NC_000015.9:g.89869883G>C | ClinGen:CA393760499 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1671G>C (p.Glu557Asp) | 5428 | POLG | Uncertain significance | 780365511 | RCV001925350; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869884 | 89869884 | | | 89869884 | - | | |
NM_002693.3(POLG):c.1669G>C (p.Glu557Gln) | 5428 | POLG | Uncertain significance | 1481695998 | RCV000692784|RCV000728618|RCV002493181; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|6 conditions | 15 | 89869886 | 89869886 | | | NC_000015.9:g.89869886C>G | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1665C>G (p.Thr555=) | 5428 | POLG | Likely benign | 1378085314 | RCV002145753; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869890 | 89869890 | | | 89869890 | - | | |
NM_002693.3(POLG):c.1664C>T (p.Thr555Ile) | 5428 | POLG | Uncertain significance | 749805848 | RCV001942707; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869891 | 89869891 | | | 89869891 | - | | |
NM_002693.3(POLG):c.1663A>T (p.Thr555Ser) | 5428 | POLG | Uncertain significance | 145496284 | RCV002010722; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869892 | 89869892 | | | 89869892 | - | | |
NM_002693.3(POLG):c.1655T>C (p.Leu552Pro) | 5428 | POLG | Uncertain significance | 2055522665 | RCV001236505|RCV002264242; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89869900 | 89869900 | | | 15:g.89869900A>G | - | | |
NM_002693.3(POLG):c.1652A>G (p.Lys551Arg) | 5428 | POLG | Uncertain significance | 1596357794 | RCV000814126; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869903 | 89869903 | | | 15:g.89869903T>C | - | | |
NM_002693.3(POLG):c.1648C>G (p.Gln550Glu) | 5428 | POLG | Uncertain significance | 1227630175 | RCV000594852|RCV000758290; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869907 | 89869907 | | | 15:g.89869907G>C | ClinGen:CA10602199 | CN169374 not specified; | |
NM_002693.3(POLG):c.1647G>A (p.Leu549=) | 5428 | POLG | Likely benign | -1 | RCV002626336; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869908 | 89869908 | | | | - | | |
NM_002693.3(POLG):c.1643G>A (p.Cys548Tyr) | 5428 | POLG | Uncertain significance | 2152066680 | RCV001904198; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869912 | 89869912 | | | 89869912 | - | | |
NM_002693.3(POLG):c.1640C>A (p.Ala547Asp) | 5428 | POLG | Uncertain significance | 1567190832 | RCV000758289|RCV000995416; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89869915 | 89869915 | | | NC_000015.9:g.89869915G>T | - | | |
NM_002693.3(POLG):c.1639G>A (p.Ala547Thr) | 5428 | POLG | Uncertain significance | 779353857 | RCV000729798|RCV001862183; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869916 | 89869916 | | | NC_000015.9:g.89869916C>T | - | | |
NM_002693.3(POLG):c.1639G>T (p.Ala547Ser) | 5428 | POLG | Uncertain significance | 779353857 | RCV000758288; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869916 | 89869916 | | | NC_000015.9:g.89869916C>A | - | | |
NM_002693.3(POLG):c.1638C>T (p.Arg546=) | 5428 | POLG | Likely benign | 772461291 | RCV000542358|RCV000992681; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89869917 | 89869917 | | | 15:g.89869917G>A | ClinGen:CA7724739 | CN169374 not specified; | |
NM_002693.3(POLG):c.1637G>A (p.Arg546His) | 5428 | POLG | Uncertain significance | 773418477 | RCV000597475|RCV000795711; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869918 | 89869918 | | | 15:g.89869918C>T | ClinGen:CA7724740 | CN169374 not specified; | |
NM_002693.3(POLG):c.1636C>T (p.Arg546Cys) | 5428 | POLG | Benign | 2307447 | RCV000020472|RCV000127562|RCV000473794|RCV001711075|RCV002311516; | N | MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 89869919 | 89869919 | | | 15:g.89869919G>A | ClinGen:CA292876,UniProtKB:P54098#VAR_014906 | C0751651 Mitochondrial diseases; | |
NM_002693.3(POLG):c.1636C>G (p.Arg546Gly) | 5428 | POLG | Uncertain significance | 2307447 | RCV000731469|RCV001364045; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869919 | 89869919 | | | NC_000015.9:g.89869919G>C | - | | |
NM_002693.3(POLG):c.1635C>T (p.Ala545=) | 5428 | POLG | Likely benign | -1 | RCV002876876; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869920 | 89869920 | | | | - | | |
NM_002693.3(POLG):c.1633G>T (p.Ala545Ser) | 5428 | POLG | Uncertain significance | -1 | RCV003065473; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869922 | 89869922 | | | NC_000015.9:g.89869922C>A | - | | |
NM_002693.3(POLG):c.1629C>T (p.Val543=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 56349446 | RCV000442913|RCV001116520|RCV001410765; | N | MedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869926 | 89869926 | | | 15:g.89869926G>A | ClinGen:CA7724742 | CN169374 not specified; | |
NM_002693.3(POLG):c.1627G>A (p.Val543Ile) | 5428 | POLG | Uncertain significance | 763775923 | RCV002051966|RCV002397829|RCV001914910; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869928 | 89869928 | | | 89869928 | - | | |
NM_002693.3(POLG):c.1626T>C (p.Asp542=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 376576519 | RCV000728733|RCV001116521|RCV001476795|RCV002397503; | N | MedGen:CN517202|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89869929 | 89869929 | | | NC_000015.9:g.89869929A>G | - | | |
NM_002693.3(POLG):c.1615_1623del (p.Phe539_Gln541del) | 5428 | POLG | Conflicting interpretations of pathogenicity | 754586219 | RCV000662161|RCV000662162|RCV000662163|RCV003237981; | N | MONDO: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:CN517202 | 15 | 89869932 | 89869940 | | | NC_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=) | 5428 | POLG | Likely benign | 958701683 | RCV000601178|RCV001412636; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869935 | 89869935 | | | 15:g.89869935T>C | ClinGen:CA274555697 | CN169374 not specified; | |
NM_002693.3(POLG):c.1618C>G (p.Gln540Glu) | 5428 | POLG | Uncertain significance | -1 | RCV002647943; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869937 | 89869937 | | | NC_000015.9:g.89869937G>C | - | | |
NM_002693.3(POLG):c.1617T>C (p.Phe539=) | 5428 | POLG | Likely benign | -1 | RCV003021562; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869938 | 89869938 | | | | - | | |
NM_002693.3(POLG):c.1603GAG[3] (p.Glu538del) | 5428 | POLG | Uncertain significance | 1304341853 | RCV001921754; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869941 | 89869943 | | | 89869940 | - | | |
NM_002693.3(POLG):c.1612_1613delinsTT (p.Glu538Leu) | 5428 | POLG | Uncertain significance | 796052921 | RCV000188700|RCV001324164|RCV002261003; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89869942 | 89869943 | | | NC_000015.9:g.89869942_89869943delinsAA | ClinGen:CA316904 | CN169374 not specified; | |
NM_002693.3(POLG):c.1613A>C (p.Glu538Ala) | 5428 | POLG | Uncertain significance | 767216577 | RCV000497705|RCV000525378|RCV002481581|RCV002527134; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MeSH:D030342,MedGen:C0950123 | 15 | 89869942 | 89869942 | | | 15:g.89869942T>G | ClinGen:CA7724748 | CN169374 not specified; | |
NM_002693.3(POLG):c.1607A>G (p.Glu536Gly) | 5428 | POLG | Uncertain significance | 1596357858 | RCV000812235; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869948 | 89869948 | | | 15:g.89869948T>C | - | | |
NM_002693.3(POLG):c.1603G>A (p.Glu535Lys) | 5428 | POLG | Uncertain significance | 2055524067 | RCV001057172; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869952 | 89869952 | | | 15:g.89869952C>T | - | | |
NM_002693.3(POLG):c.1600A>G (p.Ser534Gly) | 5428 | POLG | Uncertain significance | 201097813 | RCV001369626; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869955 | 89869955 | | | 89869955 | - | | |
NM_002693.3(POLG):c.1599C>G (p.Cys533Trp) | 5428 | POLG | Conflicting interpretations of pathogenicity | 754246294 | RCV000188551|RCV001117968|RCV001852488|RCV003133166; | N | MedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89869956 | 89869956 | | | 15:g.89869956G>C | ClinGen:CA316646 | CN169374 not specified; | |
NM_002693.3(POLG):c.1596C>T (p.Pro532=) | 5428 | POLG | Likely benign | 199856571 | RCV000516203|RCV000864648; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869959 | 89869959 | | | 15:g.89869959G>A | ClinGen:CA7724751 | CN169374 not specified; | |
NM_002693.3(POLG):c.1591G>A (p.Gly531Ser) | 5428 | POLG | Uncertain significance | 796052904 | RCV000188662|RCV001228118|RCV002399701; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89869964 | 89869964 | | | NC_000015.9:g.89869964C>T | ClinGen:CA316838 | CN169374 not specified; | |
NM_002693.3(POLG):c.1591G>T (p.Gly531Cys) | 5428 | POLG | Uncertain significance | 796052904 | RCV001876561|RCV002281196; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89869964 | 89869964 | | | 89869964 | - | | |
NM_002693.3(POLG):c.1590C>T (p.Leu530=) | 5428 | POLG | Likely benign | 141422952 | RCV000541450; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869965 | 89869965 | | | 15:g.89869965G>A | ClinGen:CA7724754 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1586-5del | 5428 | POLG | Benign/Likely benign | 2307434 | RCV000180588|RCV000466342|RCV001812160|RCV001847820|RCV002314677|RCV002500523; | N | MedGen: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 conditions | 15 | 89869974 | 89869974 | | | 15:g.89869974_89869974del | ClinGen:CA303074 | CN169374 not specified; | |
NM_002693.3(POLG):c.1586-5C>T | 5428 | POLG | Likely benign | 747270023 | RCV000863048|RCV001731676; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89869974 | 89869974 | | | 15:g.89869974G>A | ClinGen:CA7724757 | CN169374 not specified; | |
NM_002693.3(POLG):c.1586-10A>G | 5428 | POLG | Likely benign | 1060504038 | RCV000468752; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869979 | 89869979 | | | NC_000015.9:g.89869979T>C | ClinGen:CA16614535 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1586-11C>A | 5428 | POLG | Likely benign | 776821667 | RCV002213310; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869980 | 89869980 | | | 89869980 | - | | |
NM_002693.3(POLG):c.1586-11C>G | 5428 | POLG | Likely benign | 776821667 | RCV002133213; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869980 | 89869980 | | | 89869980 | - | | |
NM_002693.3(POLG):c.1586-16T>C | 5428 | POLG | Likely benign | -1 | RCV002717067; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869985 | 89869985 | | | NC_000015.9:g.89869985A>G | - | | |
NM_002693.3(POLG):c.1586-20G>A | 5428 | POLG | Likely benign | 768707883 | RCV002108647; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869989 | 89869989 | | | 89869989 | - | | |
NM_002693.3(POLG):c.1586-21T>G | 5428 | POLG | Likely benign | 908825194 | RCV000758505; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89869990 | 89869990 | | | NC_000015.9:g.89869990A>C | - | | |
NM_002693.3(POLG):c.1586-33_1586-31del | 5428 | POLG | Likely benign | 1567190938 | RCV000758506; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870000 | 89870002 | | | NC_000015.9:g.89870002_89870004del | - | | |
NM_002693.3(POLG):c.1585+22TAGGG[4] | 5428 | POLG | Likely benign | 777442304 | RCV000758504; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870106 | 89870107 | | | NC_000015.9:g.89870109CTACC[4] | - | | |
NM_002693.3(POLG):c.1585+18G>A | 5428 | POLG | Likely benign | 1371422250 | RCV000758503; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870125 | 89870125 | | | NC_000015.9:g.89870125C>T | - | | |
NM_002693.3(POLG):c.1585+15T>G | 5428 | POLG | Likely benign | 534475232 | RCV000602030|RCV002529378; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870128 | 89870128 | | | 15:g.89870128A>C | ClinGen:CA7724800 | CN169374 not specified; | |
NM_002693.3(POLG):c.1585+11T>C | 5428 | POLG | Conflicting interpretations of pathogenicity | 201566815 | RCV000127561|RCV000290628|RCV000758502|RCV001529836; | N | MedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89870132 | 89870132 | | | NC_000015.9:g.89870132A>G | ClinGen:CA292875 | CN169374 not specified; | |
NM_002693.3(POLG):c.1585+8G>A | 5428 | POLG | Likely benign | 2152066868 | RCV001469989; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870135 | 89870135 | | | 89870135 | - | | |
NM_002693.3(POLG):c.1585+6G>A | 5428 | POLG | Uncertain significance | -1 | RCV003118897; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870137 | 89870137 | | | NC_000015.9:g.89870137C>T | - | | |
NM_002693.3(POLG):c.1585+5G>A | 5428 | POLG | Uncertain significance | -1 | RCV003080281; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870138 | 89870138 | | | NC_000015.9:g.89870138C>T | - | | |
NM_002693.3(POLG):c.1581G>A (p.Gln527=) | 5428 | POLG | Likely benign | 2055528821 | RCV002163576; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870147 | 89870147 | | | 89870147 | - | | |
NM_002693.3(POLG):c.1579C>G (p.Gln527Glu) | 5428 | POLG | Uncertain significance | -1 | RCV002842828; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870149 | 89870149 | | | NC_000015.9:g.89870149G>C | - | | |
NM_002693.3(POLG):c.1572C>T (p.Pro524=) | 5428 | POLG | Likely benign | -1 | RCV003029657; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870156 | 89870156 | | | | - | | |
NM_002693.3(POLG):c.1570C>G (p.Pro524Ala) | 5428 | POLG | Uncertain significance | 577476988 | RCV000763994|RCV000733058|RCV001323681; | N | 6 conditions|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870158 | 89870158 | | | 15:g.89870158G>C | ClinGen:CA316899 | CN169374 not specified; | |
NM_002693.3(POLG):c.1565G>C (p.Gly522Ala) | 5428 | POLG | Uncertain significance | 769410234 | RCV002003291; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870163 | 89870163 | | | 89870163 | - | | |
NM_002693.3(POLG):c.1560C>T (p.Ala520=) | 5428 | POLG | Likely benign | 1324794442 | RCV001485277; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870168 | 89870168 | | | 15:g.89870168G>A | - | | |
NM_002693.3(POLG):c.1552G>A (p.Ala518Thr) | 5428 | POLG | Uncertain significance | 1596358124 | RCV000795293; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870176 | 89870176 | | | 15:g.89870176C>T | - | | |
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) | 5428 | POLG | Conflicting interpretations of pathogenicity | 61752783 | RCV000055881|RCV000118011|RCV000186556|RCV000223970|RCV000229511|RCV000768289|RCV001117969|RCV001352901|RCV001847644|RCV002311532; | N | MONDO: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:MOND | 15 | 89870178 | 89870178 | | | 15:g.89870178C>A | ClinGen:CA204012,UniProtKB:P54098#VAR_058879 | C0264162 Camptocormia; | |
NM_002693.3(POLG):c.1547_1549del (p.Glu516del) | 5428 | POLG | Uncertain significance | 781424514 | RCV001950008; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870179 | 89870181 | | | 89870178 | - | | |
NM_002693.3(POLG):c.1549G>T (p.Gly517Trp) | 5428 | POLG | Uncertain significance | 1015831792 | RCV002006518; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870179 | 89870179 | | | 89870179 | - | | |
NM_002693.3(POLG):c.1548G>A (p.Glu516=) | 5428 | POLG | Likely benign | 555939259 | RCV001469756; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870180 | 89870180 | | | 89870180 | - | | |
NM_002693.3(POLG):c.1545C>T (p.Ile515=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 537156830 | RCV000727419|RCV001860211; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870183 | 89870183 | | | 15:g.89870183G>A | ClinGen:CA7724813 | CN169374 not specified; | |
NM_002693.3(POLG):c.1543A>G (p.Ile515Val) | 5428 | POLG | Uncertain significance | 748919988 | RCV000490068|RCV001302676; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870185 | 89870185 | | | 15:g.89870185T>C | ClinGen:CA274556112 | CN169374 not specified; | |
NM_002693.3(POLG):c.1543A>C (p.Ile515Leu) | 5428 | POLG | Uncertain significance | 748919988 | RCV001245891; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870185 | 89870185 | | | 15:g.89870185T>G | - | | |
NM_002693.3(POLG):c.1542C>T (p.Pro514=) | 5428 | POLG | Likely benign | 1342656519 | RCV002119527; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870186 | 89870186 | | | 89870186 | - | | |
NM_002693.3(POLG):c.1540C>G (p.Pro514Ala) | 5428 | POLG | Uncertain significance | 756376617 | RCV000478808|RCV001851263; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870188 | 89870188 | | | 15:g.89870188G>C | ClinGen:CA7724814 | CN169374 not specified; | |
NM_002693.3(POLG):c.1532G>C (p.Ser511Thr) | 5428 | POLG | Uncertain significance | -1 | RCV002283194|RCV003096353; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870196 | 89870196 | | | 89870196 | - | | |
NM_002693.3(POLG):c.1529C>T (p.Ala510Val) | 5428 | POLG | Uncertain significance | 1252604834 | RCV001918114; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870199 | 89870199 | | | 89870199 | - | | |
NM_002693.3(POLG):c.1527A>G (p.Thr509=) | 5428 | POLG | Likely benign | -1 | RCV002806764; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870201 | 89870201 | | | | - | | |
NM_002693.3(POLG):c.1518A>C (p.Glu506Asp) | 5428 | POLG | Uncertain significance | -1 | RCV002745928; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870210 | 89870210 | | | NC_000015.9:g.89870210T>G | - | | |
NM_002693.3(POLG):c.1515G>A (p.Lys505=) | 5428 | POLG | Benign/Likely benign | 796052880 | RCV000188550|RCV001465114; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870213 | 89870213 | | | 15:g.89870213C>T | ClinGen:CA316644 | CN169374 not specified; | |
NM_002693.3(POLG):c.1512G>A (p.Lys504=) | 5428 | POLG | Likely benign | 1168275019 | RCV002176227; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870216 | 89870216 | | | 89870216 | - | | |
NM_002693.3(POLG):c.1509G>C (p.Val503=) | 5428 | POLG | Likely benign | 1018980768 | RCV001478481; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870219 | 89870219 | | | 89870219 | - | | |
NM_002693.3(POLG):c.1501AAG[1] (p.Lys502del) | 5428 | POLG | Uncertain significance | -1 | RCV002590398; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870222 | 89870224 | | | NC_000015.9:g.89870222CTT[1] | - | | |
NM_002693.3(POLG):c.1501A>G (p.Lys501Glu) | 5428 | POLG | Uncertain significance | -1 | RCV002596191; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870227 | 89870227 | | | NC_000015.9:g.89870227T>C | - | | |
NM_002693.3(POLG):c.1500T>C (p.Ala500=) | 5428 | POLG | Likely benign | -1 | RCV002389936|RCV003095254; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870228 | 89870228 | | | | - | | |
NM_002693.3(POLG):c.1499C>A (p.Ala500Asp) | 5428 | POLG | Uncertain significance | 780901280 | RCV000494076|RCV001040847; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870229 | 89870229 | | | 15:g.89870229G>T | ClinGen:CA7724821 | CN169374 not specified; | |
NM_002693.3(POLG):c.1498G>A (p.Ala500Thr) | 5428 | POLG | Uncertain significance | 745506700 | RCV000484827|RCV000476974|RCV001117970; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519 | 15 | 89870230 | 89870230 | | | NC_000015.9:g.89870230C>T | ClinGen:CA7724822 | CN169374 not specified; | |
NM_002693.3(POLG):c.1494G>A (p.Lys498=) | 5428 | POLG | Likely benign | 2152066951 | RCV002150418; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870234 | 89870234 | | | 89870234 | - | | |
NM_002693.3(POLG):c.1493A>C (p.Lys498Thr) | 5428 | POLG | Uncertain significance | 769637557 | RCV000188661|RCV000758406|RCV000766611|RCV002517885; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 89870235 | 89870235 | | | NC_000015.9:g.89870235T>G | ClinGen:CA316836 | CN169374 not specified; | |
NM_002693.3(POLG):c.1493A>G (p.Lys498Arg) | 5428 | POLG | Uncertain significance | 769637557 | RCV001326621; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870235 | 89870235 | | | 89870235 | - | | |
NM_002693.3(POLG):c.1491G>C (p.Gln497His) | 5428 | POLG | Uncertain significance | 121918052 | RCV000014464|RCV000528996|RCV000676325|RCV002496360|RCV003230363; | N | MONDO:MONDO:0016809,MedGen:C1843852, Orphanet:254881|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|6 conditions|MedGen:CN169374 | 15 | 89870237 | 89870237 | | | 15:g.89870237C>G | ClinGen:CA123152,UniProtKB:P54098#VAR_023669,OMIM:174763.0016,ClinVar:157526 | C0007959 Charcot-Marie-Tooth disease; | |
NM_002693.3(POLG):c.1486A>G (p.Lys496Glu) | 5428 | POLG | Uncertain significance | -1 | RCV002774894; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870242 | 89870242 | | | NC_000015.9:g.89870242T>C | - | | |
NM_002693.3(POLG):c.1477C>G (p.Gln493Glu) | 5428 | POLG | Uncertain significance | 1404711461 | RCV002027762; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870251 | 89870251 | | | 89870251 | - | | |
NM_002693.3(POLG):c.1474C>T (p.Leu492=) | 5428 | POLG | Likely benign | 2152066960 | RCV001415149; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870254 | 89870254 | | | 89870254 | - | | |
NM_002693.3(POLG):c.1464G>A (p.Leu488=) | 5428 | POLG | Likely benign | 768288418 | RCV001338246; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870264 | 89870264 | | | 89870264 | - | | |
NM_002693.3(POLG):c.1452_1453delinsTT (p.Trp484_Leu485delinsCysPhe) | 5428 | POLG | Uncertain significance | -1 | RCV002837673; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870275 | 89870276 | | | NC_000015.9:g.89870275_89870276delinsAA | - | | |
NM_002693.3(POLG):c.1452G>C (p.Trp484Cys) | 5428 | POLG | Uncertain significance | 774879097 | RCV000758284; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870276 | 89870276 | | | NC_000015.9:g.89870276C>G | - | | |
NM_002693.3(POLG):c.1449C>T (p.Pro483=) | 5428 | POLG | Likely benign | 762247209 | RCV000600776|RCV001443450; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870279 | 89870279 | | | 15:g.89870279G>A | ClinGen:CA7724826 | CN169374 not specified; | |
NM_002693.3(POLG):c.1448C>T (p.Pro483Leu) | 5428 | POLG | Uncertain significance | 767900699 | RCV002038937; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870280 | 89870280 | | | 89870280 | - | | |
NM_002693.3(POLG):c.1446C>T (p.Asp482=) | 5428 | POLG | Likely benign | 202053662 | RCV000438165|RCV001311061|RCV001421258; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870282 | 89870282 | | | 15:g.89870282G>A | ClinGen:CA16607174 | CN169374 not specified; | |
NM_002693.3(POLG):c.1440AGA[1] (p.Glu481del) | 5428 | POLG | Uncertain significance | 2152066975 | RCV001959467; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870283 | 89870285 | | | 89870282 | - | | |
NM_002693.3(POLG):c.1443A>C (p.Glu481Asp) | 5428 | POLG | Uncertain significance | 1325331080 | RCV001981093|RCV003128792; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89870285 | 89870285 | | | 89870285 | - | | |
NM_002693.3(POLG):c.1439A>G (p.Lys480Arg) | 5428 | POLG | Uncertain significance | 760878504 | RCV001117971|RCV001212252; | N | MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870289 | 89870289 | | | 15:g.89870289T>C | - | | |
NM_002693.3(POLG):c.1434-4G>A | 5428 | POLG | Likely benign | -1 | RCV002588427; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870298 | 89870298 | | | NC_000015.9:g.89870298C>T | - | | |
NM_002693.3(POLG):c.1434-7del | 5428 | POLG | Uncertain significance | 1422281434 | RCV001312880; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870301 | 89870301 | | | 89870300 | - | | |
NM_002693.3(POLG):c.1434-15G>A | 5428 | POLG | Uncertain significance | -1 | RCV002820761; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870309 | 89870309 | | | NC_000015.9:g.89870309C>T | - | | |
NM_002693.3(POLG):c.1434-18dup | 5428 | POLG | Conflicting interpretations of pathogenicity | 1064795188 | RCV000482710|RCV002525876; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870311 | 89870312 | | | 15:g.89870311_89870312insT | ClinGen:CA16620024 | CN169374 not specified; | |
NM_002693.3(POLG):c.1434-17G>A | 5428 | POLG | Likely benign | 373716128 | RCV000615127|RCV002531194; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870311 | 89870311 | | | 15:g.89870311C>T | ClinGen:CA7724833 | CN169374 not specified; | |
NM_002693.3(POLG):c.1434-20C>G | 5428 | POLG | Likely benign | -1 | RCV002998906; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870314 | 89870314 | | | NC_000015.9:g.89870314G>C | - | | |
NM_002693.3(POLG):c.1434-27C>T | 5428 | POLG | Likely benign | 139086616 | RCV000758497; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870321 | 89870321 | | | NC_000015.9:g.89870321G>A | - | | |
NM_002693.3(POLG):c.1434-32C>G | 5428 | POLG | Likely benign | 954111058 | RCV000758498; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870326 | 89870326 | | | NC_000015.9:g.89870326G>C | - | | |
NM_002693.3(POLG):c.1434-45C>T | 5428 | POLG | Likely benign | 190262367 | RCV000758499; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870339 | 89870339 | | | NC_000015.9:g.89870339G>A | - | | |
NM_002693.3(POLG):c.1433+18G>A | 5428 | POLG | Uncertain significance | -1 | RCV002894716; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870380 | 89870380 | | | NC_000015.9:g.89870380C>T | - | | |
NM_002693.3(POLG):c.1433+17T>C | 5428 | POLG | Likely benign | 2152067044 | RCV002185080; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870381 | 89870381 | | | 89870381 | - | | |
NM_002693.3(POLG):c.1433+14G>A | 5428 | POLG | Likely benign | 1057522174 | RCV000442633|RCV002063492; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870384 | 89870384 | | | 15:g.89870384C>T | ClinGen:CA16607072 | CN169374 not specified; | |
NM_002693.3(POLG):c.1433+11C>A | 5428 | POLG | Likely benign | 2055533348 | RCV002097766; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870387 | 89870387 | | | 89870387 | - | | |
NM_002693.3(POLG):c.1433+10C>T | 5428 | POLG | Likely benign | -1 | RCV002587839; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870388 | 89870388 | | | NC_000015.9:g.89870388G>A | - | | |
NM_002693.3(POLG):c.1433+5C>T | 5428 | POLG | Uncertain significance | 924516946 | RCV001981721|RCV002497832; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89870393 | 89870393 | | | 89870393 | - | | |
NM_002693.3(POLG):c.1431G>C (p.Glu477Asp) | 5428 | POLG | Uncertain significance | 1047926345 | RCV002005340; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870400 | 89870400 | | | 89870400 | - | | |
NM_002693.3(POLG):c.1431G>A (p.Glu477=) | 5428 | POLG | Likely benign | 1047926345 | RCV002188990; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870400 | 89870400 | | | 89870400 | - | | |
NM_002693.3(POLG):c.1429G>A (p.Glu477Lys) | 5428 | POLG | Uncertain significance | 1225242680 | RCV001663441|RCV002538566; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870402 | 89870402 | | | 89870402 | - | | |
NM_002693.3(POLG):c.1425A>G (p.Ser475=) | 5428 | POLG | Likely benign | 2152067059 | RCV002087060; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870406 | 89870406 | | | 89870406 | - | | |
NM_002693.3(POLG):c.1422C>T (p.Leu474=) | 5428 | POLG | Likely benign | -1 | RCV002578346; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870409 | 89870409 | | | | - | | |
NM_002693.3(POLG):c.1413C>T (p.Cys471=) | 5428 | POLG | Likely benign | 2152067068 | RCV002197454; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870418 | 89870418 | | | 89870418 | - | | |
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser) | 5428 | POLG | Uncertain significance | 368614463 | RCV000188696|RCV000528078|RCV002503745|RCV002514039|RCV003387794; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MeSH:D030342,MedGen:C0950123|MedGen:CN169374 | 15 | 89870428 | 89870428 | | | NC_000015.9:g.89870428T>C | ClinGen:CA316897 | CN169374 not specified; | |
NM_002693.3(POLG):c.1403A>T (p.Asn468Ile) | 5428 | POLG | Uncertain significance | -1 | RCV002465078; | N | MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886 | 15 | 89870428 | 89870428 | | | NC_000015.9:g.89870428T>A | - | | |
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) | 5428 | POLG | Conflicting interpretations of pathogenicity | 145843073 | RCV000470781|RCV000678827|RCV000658725|RCV000763995|RCV001004603|RCV001027840|RCV001117972|RCV001263305|RCV001330959|RCV001610504|RCV001847836|RCV002314743|RCV003230444; | N | MONDO: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,Orph | 15 | 89870429 | 89870429 | | | 15:g.89870429T>C | ClinGen:CA316834,UniProtKB:P54098#VAR_023668 | C0238111 Lennox-Gastaut syndrome; | |
NM_002693.3(POLG):c.1393G>T (p.Asp465Tyr) | 5428 | POLG | Uncertain significance | 2152067076 | RCV001995984; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870438 | 89870438 | | | 89870438 | - | | |
NM_002693.3(POLG):c.1379_1390del (p.Lys460_Leu463del) | 5428 | POLG | Uncertain significance | -1 | RCV003016232; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870441 | 89870452 | | | NC_000015.9:g.89870444_89870455del | - | | |
NM_002693.3(POLG):c.1389G>A (p.Leu463=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 150828914 | RCV000726849|RCV001088782|RCV002318460; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89870442 | 89870442 | | | 15:g.89870442C>T | ClinGen:CA7724866 | CN169374 not specified; | |
NM_002693.3(POLG):c.1389G>C (p.Leu463Phe) | 5428 | POLG | Uncertain significance | 150828914 | RCV000476156; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870442 | 89870442 | | | NC_000015.9:g.89870442C>G | ClinGen:CA7724867 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1386G>A (p.Ser462=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 62640034 | RCV000127560|RCV000402563|RCV000725999|RCV000758496|RCV001847758; | N | MedGen:CN169374|MedGen:C4763519|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685 | 15 | 89870445 | 89870445 | | | NC_000015.9:g.89870445C>T | ClinGen:CA292873 | CN169374 not specified; | |
NM_002693.3(POLG):c.1385C>T (p.Ser462Leu) | 5428 | POLG | Uncertain significance | 762878459 | RCV000188657|RCV000691141; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870446 | 89870446 | | | NC_000015.9:g.89870446G>A | ClinGen:CA316832 | CN169374 not specified; | |
NM_002693.3(POLG):c.1378AAG[1] (p.Lys461del) | 5428 | POLG | Uncertain significance | -1 | RCV002716684; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870448 | 89870450 | | | NC_000015.9:g.89870449TTC[1] | - | | |
NM_002693.3(POLG):c.1371G>C (p.Arg457=) | 5428 | POLG | Likely benign | 1567191387 | RCV000758495; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870460 | 89870460 | | | NC_000015.9:g.89870460C>G | - | | |
NM_002693.3(POLG):c.1370G>A (p.Arg457Gln) | 5428 | POLG | Uncertain significance | 372911506 | RCV000699631|RCV003322812; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89870461 | 89870461 | | | 15:g.89870461C>T | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1369C>T (p.Arg457Trp) | 5428 | POLG | Uncertain significance | 766242100 | RCV000188656|RCV000758282|RCV001847835; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685 | 15 | 89870462 | 89870462 | | | 15:g.89870462G>A | ClinGen:CA316830 | CN169374 not specified; | |
NM_002693.3(POLG):c.1368G>A (p.Gln456=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1555453664 | RCV000595864|RCV001441860; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870463 | 89870463 | | | 15:g.89870463C>T | ClinGen:CA492289697 | CN169374 not specified; | |
NM_002693.3(POLG):c.1365C>G (p.Leu455=) | 5428 | POLG | Likely benign | 754641736 | RCV002115231; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870466 | 89870466 | | | 89870466 | - | | |
NM_002693.3(POLG):c.1356T>C (p.Tyr452=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 3176179 | RCV000734331|RCV001089119|RCV001117973; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519 | 15 | 89870475 | 89870475 | | | 15:g.89870475A>G | ClinGen:CA7724873 | CN169374 not specified; | |
NM_002693.3(POLG):c.1355A>G (p.Tyr452Cys) | 5428 | POLG | Uncertain significance | 2152067095 | RCV001990830; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870476 | 89870476 | | | 89870476 | - | | |
NM_002693.3(POLG):c.1350C>T (p.Gly450=) | 5428 | POLG | Likely benign | 752398019 | RCV001732693|RCV002539818; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870481 | 89870481 | | | 89870481 | - | | |
NM_002693.3(POLG):c.1349G>T (p.Gly450Val) | 5428 | POLG | Uncertain significance | 757804090 | RCV000519409|RCV000558987; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870482 | 89870482 | | | 15:g.89870482C>A | ClinGen:CA7724875 | CN169374 not specified; | |
NM_002693.3(POLG):c.1341G>A (p.Glu447=) | 5428 | POLG | Likely benign | 2152067108 | RCV002186889; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870490 | 89870490 | | | 89870490 | - | | |
NM_002693.3(POLG):c.1339G>A (p.Glu447Lys) | 5428 | POLG | Uncertain significance | 2055535022 | RCV001349824; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870492 | 89870492 | | | 89870492 | - | | |
NM_002693.3(POLG):c.1336_1337delinsTT (p.Ala446Leu) | 5428 | POLG | Uncertain significance | 2152067113 | RCV001908817; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870494 | 89870495 | | | 89870494 | - | | |
NM_002693.3(POLG):c.1333C>G (p.Leu445Val) | 5428 | POLG | Uncertain significance | -1 | RCV003042558; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870498 | 89870498 | | | NC_000015.9:g.89870498G>C | - | | |
NM_002693.3(POLG):c.1327C>T (p.Arg443Cys) | 5428 | POLG | Uncertain significance | 747485523 | RCV000758437|RCV001119509; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519 | 15 | 89870504 | 89870504 | | | NC_000015.9:g.89870504G>A | - | | |
NM_002693.3(POLG):c.1324G>A (p.Glu442Lys) | 5428 | POLG | Uncertain significance | -1 | RCV003109460; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870507 | 89870507 | | | NC_000015.9:g.89870507C>T | - | | |
NM_002693.3(POLG):c.1320C>T (p.Asn440=) | 5428 | POLG | Likely benign | 369593231 | RCV002090395; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870511 | 89870511 | | | 89870511 | - | | |
NM_002693.3(POLG):c.1311C>T (p.Val437=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 62640035 | RCV000188549|RCV000758494|RCV001119510; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519 | 15 | 89870520 | 89870520 | | | NC_000015.9:g.89870520G>A | ClinGen:CA316642 | CN169374 not specified; | |
NM_002693.3(POLG):c.1303C>G (p.Leu435Val) | 5428 | POLG | Uncertain significance | 2152067129 | RCV002002785; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870528 | 89870528 | | | 89870528 | - | | |
NM_002693.3(POLG):c.1300T>C (p.Tyr434His) | 5428 | POLG | Conflicting interpretations of pathogenicity | 775538075 | RCV000188654|RCV001852491; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870531 | 89870531 | | | NC_000015.9:g.89870531A>G | ClinGen:CA316826 | CN517202 not provided; | |
NM_002693.3(POLG):c.1298C>T (p.Ser433Phe) | 5428 | POLG | Uncertain significance | -1 | RCV002600313; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870533 | 89870533 | | | NC_000015.9:g.89870533G>A | - | | |
NM_002693.3(POLG):c.1293T>C (p.Gly431=) | 5428 | POLG | Likely benign | 768831752 | RCV002126810; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870538 | 89870538 | | | 89870538 | - | | |
NM_002693.3(POLG):c.1292G>T (p.Gly431Val) | 5428 | POLG | Uncertain significance | -1 | RCV003058482; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870539 | 89870539 | | | NC_000015.9:g.89870539C>A | - | | |
NM_002693.3(POLG):c.1283T>C (p.Leu428Pro) | 5428 | POLG | Conflicting interpretations of pathogenicity | 774610098 | RCV001205060; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870548 | 89870548 | | | 15:g.89870548A>G | - | | |
NM_002693.3(POLG):c.1282C>T (p.Leu428=) | 5428 | POLG | Likely benign | -1 | RCV002937472; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870549 | 89870549 | | | | - | | |
NM_002693.3(POLG):c.1280T>C (p.Met427Thr) | 5428 | POLG | Uncertain significance | 1596358489 | RCV000803736; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870551 | 89870551 | | | 15:g.89870551A>G | - | | |
NM_002693.3(POLG):c.1279A>G (p.Met427Val) | 5428 | POLG | Uncertain significance | 996158882 | RCV001884983; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870552 | 89870552 | | | 89870552 | - | | |
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser) | 5428 | POLG | Conflicting interpretations of pathogenicity | 775576189 | RCV000534104|RCV000763997|RCV001546202; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MedGen:C3661900 | 15 | 89870555 | 89870555 | | | NC_000015.9:g.89870555C>T | ClinGen:CA7724884 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1276G>C (p.Gly426Arg) | 5428 | POLG | Uncertain significance | 775576189 | RCV001206394; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870555 | 89870555 | | | 15:g.89870555C>G | - | | |
NM_002693.3(POLG):c.1275C>T (p.Ala425=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 147404477 | RCV000127559|RCV000558064|RCV000725687|RCV001847757|RCV002371970; | N | MedGen: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 | 15 | 89870556 | 89870556 | | | NC_000015.9:g.89870556G>A | ClinGen:CA292871 | CN169374 not specified; | |
NM_002693.3(POLG):c.1274C>A (p.Ala425Asp) | 5428 | POLG | Uncertain significance | -1 | RCV002948923; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870557 | 89870557 | | | NC_000015.9:g.89870557G>T | - | | |
NM_002693.3(POLG):c.1270C>G (p.Leu424Val) | 5428 | POLG | Uncertain significance | 2055536253 | RCV001303129; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870561 | 89870561 | | | 89870561 | - | | |
NM_002693.3(POLG):c.1269T>A (p.Thr423=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 886044670 | RCV000282461|RCV002061145; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870562 | 89870562 | | | 15:g.89870562A>T | ClinGen:CA10607040 | CN169374 not specified; | |
NM_002693.3(POLG):c.1264G>T (p.Val422Leu) | 5428 | POLG | Uncertain significance | -1 | RCV002303793; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870567 | 89870567 | | | 89870567 | - | | |
NM_002693.3(POLG):c.1262C>T (p.Pro421Leu) | 5428 | POLG | Uncertain significance | 752240321 | RCV000467695; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870569 | 89870569 | | | NC_000015.9:g.89870569G>A | ClinGen:CA7724887 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1252T>C (p.Cys418Arg) | 5428 | POLG | Conflicting interpretations of pathogenicity | 758112770 | RCV001208687|RCV002274145; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|Human Phenotype Ontology:HP:0012758,MedGen:C4022738 | 15 | 89870579 | 89870579 | | | 15:g.89870579A>G | - | | |
NM_002693.3(POLG):c.1251G>A (p.Arg417=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1567191509 | RCV000729608|RCV000758352; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870580 | 89870580 | | | NC_000015.9:g.89870580C>T | - | | |
NM_002693.3(POLG):c.1251-5C>G | 5428 | POLG | Likely benign | 199621975 | RCV001472533; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870585 | 89870585 | | | 89870585 | - | | |
NM_002693.3(POLG):c.1251-9G>T | 5428 | POLG | Likely benign | 1201515627 | RCV002107405; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870589 | 89870589 | | | 89870589 | - | | |
NM_002693.3(POLG):c.1251-20T>C | 5428 | POLG | Likely benign | 769062935 | RCV000842669|RCV002064411; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870600 | 89870600 | | | 15:g.89870600A>G | - | | |
NM_002693.3(POLG):c.1251-23del | 5428 | POLG | Likely benign | 541579481 | RCV000758353; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870603 | 89870603 | | | NC_000015.9:g.89870603del | - | | |
NM_002693.3(POLG):c.1251-38G>C | 5428 | POLG | Likely benign | 1567191551 | RCV000758354; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89870618 | 89870618 | | | NC_000015.9:g.89870618C>G | - | | |
NM_002693.3(POLG):c.1251-43C>T | 5428 | POLG | Benign/Likely benign | 2307444 | RCV000758543|RCV000832514; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89870623 | 89870623 | | | NC_000015.9:g.89870623G>A | - | | |
NM_002693.3(POLG):c.1250+37G>T | 5428 | POLG | Likely benign | 372614123 | RCV000758351; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871650 | 89871650 | | | NC_000015.9:g.89871650C>A | - | | |
NM_002693.3(POLG):c.1250+27_1250+28del | 5428 | POLG | Likely benign | 776623760 | RCV000758350; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871659 | 89871660 | | | NC_000015.9:g.89871660GA[1] | - | | |
NM_002693.3(POLG):c.1250+15A>T | 5428 | POLG | Likely benign | 763678853 | RCV002101255; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871672 | 89871672 | | | 89871672 | - | | |
NM_002693.3(POLG):c.1250+12C>T | 5428 | POLG | Likely benign | 985160740 | RCV000758349; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871675 | 89871675 | | | NC_000015.9:g.89871675G>A | - | | |
NM_002693.3(POLG):c.1250+9G>T | 5428 | POLG | Likely benign | 910982233 | RCV002086621; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871678 | 89871678 | | | 89871678 | - | | |
NM_002693.3(POLG):c.1250+8G>A | 5428 | POLG | Likely benign | 775109520 | RCV001501455; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871679 | 89871679 | | | 15:g.89871679C>T | - | | |
NM_002693.3(POLG):c.1250+5G>T | 5428 | POLG | Conflicting interpretations of pathogenicity | 751221993 | RCV000471060|RCV000712786; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89871682 | 89871682 | | | NC_000015.9:g.89871682C>A | ClinGen:CA316823 | CN169374 not specified; | |
NM_002693.3(POLG):c.1244T>G (p.Leu415Trp) | 5428 | POLG | Uncertain significance | 376895501 | RCV000729453|RCV000802691; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871693 | 89871693 | | | NC_000015.9:g.89871693A>C | - | | |
NM_002693.3(POLG):c.1239CTT[1] (p.Phe414del) | 5428 | POLG | Uncertain significance | 2055551786 | RCV001049976; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871693 | 89871695 | | | 15:g.89871693_89871695del | - | | |
NM_002693.3(POLG):c.1243T>C (p.Leu415=) | 5428 | POLG | Likely benign | -1 | RCV002605160; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871694 | 89871694 | | | | - | | |
NM_002693.3(POLG):c.1239C>T (p.Leu413=) | 5428 | POLG | Likely benign | -1 | RCV003080922; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871698 | 89871698 | | | | - | | |
NM_002693.3(POLG):c.1236G>A (p.Pro412=) | 5428 | POLG | Likely benign | 750875156 | RCV000421700|RCV001436684|RCV002365500; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89871701 | 89871701 | | | 15:g.89871701C>T | ClinGen:CA7724914 | CN169374 not specified; | |
NM_002693.3(POLG):c.1236G>T (p.Pro412=) | 5428 | POLG | Likely benign | 750875156 | RCV002121749; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871701 | 89871701 | | | 89871701 | - | | |
NM_002693.3(POLG):c.1235C>T (p.Pro412Leu) | 5428 | POLG | Uncertain significance | 587780420 | RCV000118009|RCV000804892|RCV003407506; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726| | 15 | 89871702 | 89871702 | | | NC_000015.9:g.89871702G>A | ClinGen:CA231402 | CN517202 not provided; | |
NM_002693.3(POLG):c.1223AGC[2] (p.Gln410del) | 5428 | POLG | Uncertain significance | 765446994 | RCV000523737|RCV000704825; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871706 | 89871708 | | | NC_000015.9:g.89871707CTG[2] | ClinGen:CA7724915 | CN169374 not specified; | |
NM_002693.3(POLG):c.1229A>T (p.Gln410Leu) | 5428 | POLG | Uncertain significance | 2055552006 | RCV001309162; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871708 | 89871708 | | | 89871708 | - | | |
NM_002693.3(POLG):c.1220T>C (p.Phe407Ser) | 5428 | POLG | Uncertain significance | 749715845 | RCV001308246; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871717 | 89871717 | | | 89871717 | - | | |
NM_002693.3(POLG):c.1198G>A (p.Val400Met) | 5428 | POLG | Conflicting interpretations of pathogenicity | 529639381 | RCV000812598; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871739 | 89871739 | | | 15:g.89871739C>T | - | | |
NM_002693.3(POLG):c.1197C>T (p.Asp399=) | 5428 | POLG | Likely benign | 1406931016 | RCV002148547; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871740 | 89871740 | | | 89871740 | - | | |
NM_002693.3(POLG):c.1190C>T (p.Ala397Val) | 5428 | POLG | Uncertain significance | -1 | RCV003064294; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871747 | 89871747 | | | NC_000015.9:g.89871747G>A | - | | |
NM_002693.3(POLG):c.1189G>A (p.Ala397Thr) | 5428 | POLG | Uncertain significance | 748412462 | RCV001297605; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871748 | 89871748 | | | 89871748 | - | | |
NM_002693.3(POLG):c.1186T>C (p.Cys396Arg) | 5428 | POLG | Uncertain significance | 1567191994 | RCV000758434; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871751 | 89871751 | | | NC_000015.9:g.89871751A>G | - | | |
NM_002693.3(POLG):c.1174C>G (p.Leu392Val) | 5428 | POLG | Conflicting interpretations of pathogenicity | 145289229 | RCV000188651|RCV000475753|RCV000515415|RCV000710181|RCV001119511|RCV001847818|RCV002317054; | N | MedGen: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:C0950123 | 15 | 89871763 | 89871763 | | | 15:g.89871763G>C | ClinGen:CA246660 | C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; | |
NM_002693.3(POLG):c.1171-19_1171-16del | 5428 | POLG | Likely benign | 2152067832 | RCV002172707; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871782 | 89871785 | | | 89871781 | - | | |
NM_002693.3(POLG):c.1171-17C>T | 5428 | POLG | Likely benign | 1331868744 | RCV002185347; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871783 | 89871783 | | | 89871783 | - | | |
NM_002693.3(POLG):c.1171-17C>G | 5428 | POLG | Likely benign | -1 | RCV002636788; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871783 | 89871783 | | | NC_000015.9:g.89871783G>C | - | | |
NM_002693.3(POLG):c.1171-18C>G | 5428 | POLG | Likely benign | 1567192015 | RCV000758345; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871784 | 89871784 | | | NC_000015.9:g.89871784G>C | - | | |
NM_002693.3(POLG):c.1171-24C>T | 5428 | POLG | Likely benign | 369293614 | RCV000758346; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871790 | 89871790 | | | NC_000015.9:g.89871790G>A | - | | |
NM_002693.3(POLG):c.1171-30A>G | 5428 | POLG | Likely benign | 761504232 | RCV000758347; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871796 | 89871796 | | | NC_000015.9:g.89871796T>C | - | | |
NM_002693.3(POLG):c.1171-37G>T | 5428 | POLG | Likely benign | 1426619872 | RCV000758348; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871803 | 89871803 | | | NC_000015.9:g.89871803C>A | - | | |
NM_002693.3(POLG):c.1170+18dup | 5428 | POLG | Benign/Likely benign | 1274781490 | RCV000608068|RCV002064137; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871897 | 89871898 | | | NC_000015.9:g.89871902dup | ClinGen:CA619857484 | CN169374 not specified; | |
NM_002693.3(POLG):c.1170+16G>A | 5428 | POLG | Likely benign | 770920449 | RCV002173259; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871900 | 89871900 | | | 89871900 | - | | |
NM_002693.3(POLG):c.1170+12G>A | 5428 | POLG | Likely benign | -1 | RCV003026852; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871904 | 89871904 | | | NC_000015.9:g.89871904C>T | - | | |
NM_002693.3(POLG):c.1170+11G>T | 5428 | POLG | Likely benign | 2055554714 | RCV002106002; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871905 | 89871905 | | | 89871905 | - | | |
NM_002693.3(POLG):c.1170+9C>T | 5428 | POLG | Likely benign | 373168754 | RCV000758344; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871907 | 89871907 | | | NC_000015.9:g.89871907G>A | - | | |
NM_002693.3(POLG):c.1170+6G>A | 5428 | POLG | Uncertain significance | 749250690 | RCV000351234|RCV001850679; | N | MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871910 | 89871910 | | | NC_000015.9:g.89871910C>T | ClinGen:CA7724942 | CN239393 POLG-Related Spectrum Disorders; | |
NM_002693.3(POLG):c.1170+6G>T | 5428 | POLG | Uncertain significance | -1 | RCV002607555; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871910 | 89871910 | | | NC_000015.9:g.89871910C>A | - | | |
NM_002693.3(POLG):c.1164C>T (p.Asn388=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 376649412 | RCV000732894|RCV002536489; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871922 | 89871922 | | | NC_000015.9:g.89871922G>A | - | | |
NM_002693.3(POLG):c.1157G>A (p.Arg386His) | 5428 | POLG | Uncertain significance | 1394411503 | RCV000633557; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871929 | 89871929 | | | NC_000015.9:g.89871929C>T | ClinGen:CA393764641 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) | 5428 | POLG | Conflicting interpretations of pathogenicity | 199759055 | RCV000188650|RCV000660573|RCV000758259|RCV000778454; | N | MedGen: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,Orph | 15 | 89871930 | 89871930 | | | 15:g.89871930G>A | ClinGen:CA316821 | C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type; | |
NM_002693.3(POLG):c.1156C>G (p.Arg386Gly) | 5428 | POLG | Uncertain significance | -1 | RCV003121498; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871930 | 89871930 | | | NC_000015.9:g.89871930G>C | - | | |
NM_002693.3(POLG):c.1155T>C (p.Ile385=) | 5428 | POLG | Likely benign | -1 | RCV002761206; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871931 | 89871931 | | | | - | | |
NM_002693.3(POLG):c.1153A>G (p.Ile385Val) | 5428 | POLG | Uncertain significance | -1 | RCV002966609; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871933 | 89871933 | | | NC_000015.9:g.89871933T>C | - | | |
NM_002693.3(POLG):c.1150G>C (p.Asp384His) | 5428 | POLG | Uncertain significance | 2055555179 | RCV001040791; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871936 | 89871936 | | | 15:g.89871936C>G | - | | |
NM_002693.3(POLG):c.1149G>A (p.Lys383=) | 5428 | POLG | Likely benign | 767256165 | RCV000253594|RCV000868171|RCV000758343; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871937 | 89871937 | | | NC_000015.9:g.89871937C>T | ClinGen:CA7724945 | CN169374 not specified; | |
NM_002693.3(POLG):c.1144A>G (p.Met382Val) | 5428 | POLG | Uncertain significance | -1 | RCV002583110; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871942 | 89871942 | | | NC_000015.9:g.89871942T>C | - | | |
NM_002693.3(POLG):c.1143C>T (p.Thr381=) | 5428 | POLG | Likely benign | -1 | RCV003043873; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871943 | 89871943 | | | | - | | |
NM_002693.3(POLG):c.1141A>G (p.Thr381Ala) | 5428 | POLG | Uncertain significance | 772748692 | RCV002042215; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871945 | 89871945 | | | 89871945 | - | | |
NM_002693.3(POLG):c.1140C>T (p.Gly380=) | 5428 | POLG | Likely benign | -1 | RCV003042252; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871946 | 89871946 | | | | - | | |
NM_002693.3(POLG):c.1139G>T (p.Gly380Val) | 5428 | POLG | Uncertain significance | -1 | RCV003031338; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871947 | 89871947 | | | NC_000015.9:g.89871947C>A | - | | |
NM_002693.3(POLG):c.1126C>T (p.Leu376=) | 5428 | POLG | Benign/Likely benign | 116165908 | RCV000127558|RCV000473863|RCV001529787|RCV002316398|RCV002483255; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|6 conditions | 15 | 89871960 | 89871960 | | | NC_000015.9:g.89871960G>A | ClinGen:CA292869 | CN169374 not specified; | |
NM_002693.3(POLG):c.1122A>G (p.Arg374=) | 5428 | POLG | Likely benign | 372759057 | RCV001402718|RCV001532266|RCV002436330; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 89871964 | 89871964 | | | 15:g.89871964T>C | ClinGen:CA7724950 | CN169374 not specified; | |
NM_002693.3(POLG):c.1121G>A (p.Arg374Gln) | 5428 | POLG | Uncertain significance | 1202773554 | RCV001035329|RCV001547493; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89871965 | 89871965 | | | 15:g.89871965C>T | - | | |
NM_002693.3(POLG):c.1118C>G (p.Pro373Arg) | 5428 | POLG | Uncertain significance | -1 | RCV002620332; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871968 | 89871968 | | | NC_000015.9:g.89871968G>C | - | | |
NM_002693.3(POLG):c.1100C>T (p.Pro367Leu) | 5428 | POLG | Uncertain significance | 751761350 | RCV000816439; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871986 | 89871986 | | | 15:g.89871986G>A | - | | |
NM_002693.3(POLG):c.1100C>A (p.Pro367His) | 5428 | POLG | Uncertain significance | -1 | RCV002455627|RCV003101900; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871986 | 89871986 | | | 89871986 | - | | |
NM_002693.3(POLG):c.1098G>A (p.Gly366=) | 5428 | POLG | Likely benign | 1195508608 | RCV000609265|RCV002063121; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871988 | 89871988 | | | 15:g.89871988C>T | ClinGen:CA492289809 | CN169374 not specified; | |
NM_002693.3(POLG):c.1098G>C (p.Gly366=) | 5428 | POLG | Likely benign | 1195508608 | RCV002129476; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871988 | 89871988 | | | 89871988 | - | | |
NM_002693.3(POLG):c.1097G>C (p.Gly366Ala) | 5428 | POLG | Uncertain significance | 757315161 | RCV000313023|RCV000804837|RCV002480061; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89871989 | 89871989 | | | 15:g.89871989C>G | ClinGen:CA7724956 | CN169374 not specified; | |
NM_002693.3(POLG):c.1097G>A (p.Gly366Glu) | 5428 | POLG | Uncertain significance | -1 | RCV003062827; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871989 | 89871989 | | | NC_000015.9:g.89871989C>T | - | | |
NM_002693.3(POLG):c.1096G>A (p.Gly366Arg) | 5428 | POLG | Uncertain significance | 1340995594 | RCV002043162; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871990 | 89871990 | | | 89871990 | - | | |
NM_002693.3(POLG):c.1094G>C (p.Gly365Ala) | 5428 | POLG | Uncertain significance | 781181789 | RCV000695008; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871992 | 89871992 | | | 15:g.89871992C>G | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.1094G>A (p.Gly365Glu) | 5428 | POLG | Uncertain significance | -1 | RCV002618556; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871992 | 89871992 | | | NC_000015.9:g.89871992C>T | - | | |
NM_002693.3(POLG):c.1091T>C (p.Val364Ala) | 5428 | POLG | Uncertain significance | -1 | RCV002624774; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871995 | 89871995 | | | NC_000015.9:g.89871995A>G | - | | |
NM_002693.3(POLG):c.1090G>A (p.Val364Ile) | 5428 | POLG | Uncertain significance | 2055556252 | RCV001872110; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871996 | 89871996 | | | 89871996 | - | | |
NM_002693.3(POLG):c.1087T>C (p.Tyr363His) | 5428 | POLG | Uncertain significance | 1380215532 | RCV001979998; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89871999 | 89871999 | | | 89871999 | - | | |
NM_002693.3(POLG):c.1084C>G (p.Leu362Val) | 5428 | POLG | Uncertain significance | 763248358 | RCV000758433|RCV001119512|RCV001578158; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MedGen:CN517202 | 15 | 89872002 | 89872002 | | | NC_000015.9:g.89872002G>C | - | | |
NM_002693.3(POLG):c.1083A>C (p.Arg361Ser) | 5428 | POLG | Uncertain significance | -1 | RCV002720035; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872003 | 89872003 | | | NC_000015.9:g.89872003T>G | - | | |
NM_002693.3(POLG):c.1080C>T (p.His360=) | 5428 | POLG | Likely benign | 2055556429 | RCV001501534; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872006 | 89872006 | | | 89872006 | - | | |
NM_002693.3(POLG):c.1076T>C (p.Val359Ala) | 5428 | POLG | Uncertain significance | -1 | RCV003027668; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872010 | 89872010 | | | NC_000015.9:g.89872010A>G | - | | |
NM_002693.3(POLG):c.1066C>T (p.Leu356=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 371431444 | RCV000127557|RCV000476514|RCV000726665|RCV001119513|RCV002408634; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MedGen:C4763519|MeSH:D030342,MedGen:C0950123 | 15 | 89872020 | 89872020 | | | NC_000015.9:g.89872020G>A | ClinGen:CA292867 | CN169374 not specified; | |
NM_002693.3(POLG):c.1066C>G (p.Leu356Val) | 5428 | POLG | Uncertain significance | 371431444 | RCV001044518; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872020 | 89872020 | | | 15:g.89872020G>C | - | | |
NM_002693.3(POLG):c.1062C>T (p.Asn354=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 778662837 | RCV001119514|RCV001396114|RCV002411636; | N | MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89872024 | 89872024 | | | 15:g.89872024G>A | - | | |
NM_002693.3(POLG):c.1061A>G (p.Asn354Ser) | 5428 | POLG | Uncertain significance | 148697152 | RCV001892026|RCV002473314; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89872025 | 89872025 | | | 89872025 | - | | |
NM_002693.3(POLG):c.1060A>G (p.Asn354Asp) | 5428 | POLG | Conflicting interpretations of pathogenicity | 796052916 | RCV000188692|RCV002514038; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872026 | 89872026 | | | NC_000015.9:g.89872026T>C | ClinGen:CA316890 | CN517202 not provided; | |
NM_002693.3(POLG):c.1057G>A (p.Val353Ile) | 5428 | POLG | Uncertain significance | 1319774669 | RCV001121508|RCV001856602; | N | MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872029 | 89872029 | | | 15:g.89872029C>T | - | | |
NM_002693.3(POLG):c.1057G>T (p.Val353Phe) | 5428 | POLG | Uncertain significance | -1 | RCV002628115; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872029 | 89872029 | | | NC_000015.9:g.89872029C>A | - | | |
NM_002693.3(POLG):c.1056T>C (p.Ser352=) | 5428 | POLG | Likely benign | 1567192184 | RCV000758342; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872030 | 89872030 | | | NC_000015.9:g.89872030A>G | - | | |
NM_002693.3(POLG):c.1054A>G (p.Ser352Gly) | 5428 | POLG | Uncertain significance | 1326621426 | RCV001038762|RCV002400231; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89872032 | 89872032 | | | 15:g.89872032T>C | - | | |
NM_002693.3(POLG):c.1053C>T (p.Ser351=) | 5428 | POLG | Likely benign | 2152067986 | RCV002141433; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872033 | 89872033 | | | 89872033 | - | | |
NM_002693.3(POLG):c.1047C>T (p.Asp349=) | 5428 | POLG | Likely benign | -1 | RCV003085966; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872039 | 89872039 | | | | - | | |
NM_002693.3(POLG):c.1036G>T (p.Asp346Tyr) | 5428 | POLG | Uncertain significance | 2152067994 | RCV001966084; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872050 | 89872050 | | | 89872050 | - | | |
NM_002693.3(POLG):c.1024-3C>T | 5428 | POLG | Uncertain significance | 2152068001 | RCV002028067; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872065 | 89872065 | | | 89872065 | - | | |
NM_002693.3(POLG):c.1024-4C>G | 5428 | POLG | Likely benign | 2152068002 | RCV001490397; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872066 | 89872066 | | | 89872066 | - | | |
NM_002693.3(POLG):c.1024-6C>T | 5428 | POLG | Likely benign | -1 | RCV002857689; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872068 | 89872068 | | | NC_000015.9:g.89872068G>A | - | | |
NM_002693.3(POLG):c.1024-9G>T | 5428 | POLG | Likely benign | 2152068008 | RCV001393256; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872071 | 89872071 | | | 89872071 | - | | |
NM_002693.3(POLG):c.1024-11T>A | 5428 | POLG | Uncertain significance | 111879000 | RCV001888558; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872073 | 89872073 | | | 89872073 | - | | |
NM_002693.3(POLG):c.1024-12C>G | 5428 | POLG | Likely benign | -1 | RCV002638124; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872074 | 89872074 | | | NC_000015.9:g.89872074G>C | - | | |
NM_002693.3(POLG):c.1024-14C>T | 5428 | POLG | Likely benign | 1484888048 | RCV002160961; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872076 | 89872076 | | | 89872076 | - | | |
NM_002693.3(POLG):c.1024-19C>T | 5428 | POLG | Likely benign | -1 | RCV003087786; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872081 | 89872081 | | | NC_000015.9:g.89872081G>A | - | | |
NM_002693.3(POLG):c.1024-20C>G | 5428 | POLG | Likely benign | -1 | RCV002775339; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872082 | 89872082 | | | NC_000015.9:g.89872082G>C | - | | |
NM_002693.3(POLG):c.1024-24A>G | 5428 | POLG | Likely benign | 1567192219 | RCV000758340; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872086 | 89872086 | | | NC_000015.9:g.89872086T>C | - | | |
NM_002693.3(POLG):c.1024-38C>T | 5428 | POLG | Benign | 138069091 | RCV000758542; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872100 | 89872100 | | | NC_000015.9:g.89872100G>A | - | | |
NM_002693.3(POLG):c.1024-44C>T | 5428 | POLG | Likely benign | 370557654 | RCV000758341; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872106 | 89872106 | | | NC_000015.9:g.89872106G>A | - | | |
NM_002693.3(POLG):c.1023+18G>A | 5428 | POLG | Uncertain significance | -1 | RCV002646813; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872156 | 89872156 | | | NC_000015.9:g.89872156C>T | - | | |
NM_002693.3(POLG):c.1023+17G>C | 5428 | POLG | Likely benign | 778750911 | RCV000758493; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872157 | 89872157 | | | NC_000015.9:g.89872157C>G | - | | |
NM_002693.3(POLG):c.1023+17G>A | 5428 | POLG | Likely benign | 778750911 | RCV002212802|RCV002498224; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89872157 | 89872157 | | | 89872157 | - | | |
NM_002693.3(POLG):c.1023+16C>T | 5428 | POLG | Likely benign | 748111279 | RCV002115030; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872158 | 89872158 | | | 89872158 | - | | |
NM_002693.3(POLG):c.1023+16C>A | 5428 | POLG | Uncertain significance | -1 | RCV002894668; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872158 | 89872158 | | | NC_000015.9:g.89872158G>T | - | | |
NM_002693.3(POLG):c.1023+15C>T | 5428 | POLG | Likely benign | -1 | RCV003022240; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872159 | 89872159 | | | NC_000015.9:g.89872159G>A | - | | |
NM_002693.3(POLG):c.1023+11A>G | 5428 | POLG | Likely benign | 1274510765 | RCV002108069; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872163 | 89872163 | | | 89872163 | - | | |
NM_002693.3(POLG):c.1023+10C>T | 5428 | POLG | Likely benign | 777477062 | RCV000758492; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872164 | 89872164 | | | NC_000015.9:g.89872164G>A | - | | |
NM_002693.3(POLG):c.1023+8C>T | 5428 | POLG | Likely benign | 2055559095 | RCV002208446; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872166 | 89872166 | | | 89872166 | - | | |
NM_002693.3(POLG):c.1023+7G>T | 5428 | POLG | Likely benign | 2055559130 | RCV002159816; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872167 | 89872167 | | | 89872167 | - | | |
NM_002693.3(POLG):c.1022_1023delinsAT (p.Ala341Asp) | 5428 | POLG | Uncertain significance | 2055559226 | RCV001217482; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872174 | 89872175 | | | NC_000015.9:g.89872174_89872175delinsAT | - | | |
NM_002693.3(POLG):c.1022C>T (p.Ala341Val) | 5428 | POLG | Uncertain significance | 746639234 | RCV001044732|RCV002281155; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89872175 | 89872175 | | | 15:g.89872175G>A | - | | |
NM_002693.3(POLG):c.1008C>T (p.Ala336=) | 5428 | POLG | Likely benign | 2055559518 | RCV001487137; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872189 | 89872189 | | | 89872189 | - | | |
NM_002693.3(POLG):c.1007C>T (p.Ala336Val) | 5428 | POLG | Uncertain significance | -1 | RCV002727061; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872190 | 89872190 | | | NC_000015.9:g.89872190G>A | - | | |
NM_002693.3(POLG):c.1002G>A (p.Arg334=) | 5428 | POLG | Likely benign | 1057520944 | RCV000431879|RCV000866046; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872195 | 89872195 | | | 15:g.89872195C>T | ClinGen:CA16607181 | CN169374 not specified; | |
NM_002693.3(POLG):c.1001G>A (p.Arg334Lys) | 5428 | POLG | Uncertain significance | 776437525 | RCV000474734; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872196 | 89872196 | | | NC_000015.9:g.89872196C>T | ClinGen:CA7724984 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.996C>G (p.Ser332=) | 5428 | POLG | Likely benign | 1183183052 | RCV001484925; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872201 | 89872201 | | | 89872201 | - | | |
NM_002693.3(POLG):c.996C>A (p.Ser332=) | 5428 | POLG | Likely benign | -1 | RCV002876140; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872201 | 89872201 | | | | - | | |
NM_002693.3(POLG):c.995C>T (p.Ser332Phe) | 5428 | POLG | Uncertain significance | 1567192290 | RCV001863770|RCV002478113; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89872202 | 89872202 | | | 89872202 | - | | |
NM_002693.3(POLG):c.990G>T (p.Gln330His) | 5428 | POLG | Uncertain significance | -1 | RCV002823917; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872207 | 89872207 | | | NC_000015.9:g.89872207C>A | - | | |
NM_002693.3(POLG):c.989A>G (p.Gln330Arg) | 5428 | POLG | Uncertain significance | 1423452317 | RCV000814252; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872208 | 89872208 | | | 15:g.89872208T>C | - | | |
NM_002693.3(POLG):c.987C>T (p.Gly329=) | 5428 | POLG | Uncertain significance | 2152068113 | RCV001896636; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872210 | 89872210 | | | 89872210 | - | | |
NM_002693.3(POLG):c.983A>G (p.Gln328Arg) | 5428 | POLG | Uncertain significance | 886043556 | RCV000296901|RCV002519275; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872214 | 89872214 | | | 15:g.89872214T>C | ClinGen:CA10605655 | CN169374 not specified; | |
NM_002693.3(POLG):c.979A>G (p.Lys327Glu) | 5428 | POLG | Uncertain significance | -1 | RCV002952660; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872218 | 89872218 | | | NC_000015.9:g.89872218T>C | - | | |
NM_002693.3(POLG):c.978A>C (p.Thr326=) | 5428 | POLG | Likely benign | 1161197876 | RCV000862393|RCV001459421; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872219 | 89872219 | | | 15:g.89872219T>G | - | | |
NM_002693.3(POLG):c.977C>T (p.Thr326Ile) | 5428 | POLG | Uncertain significance | -1 | RCV003092406; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872220 | 89872220 | | | NC_000015.9:g.89872220G>A | - | | |
NM_002693.3(POLG):c.975C>A (p.Pro325=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 551973680 | RCV000127556|RCV000727457|RCV001084800|RCV002312591; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89872222 | 89872222 | | | NC_000015.9:g.89872222G>T | ClinGen:CA292865 | CN169374 not specified; | |
NM_002693.3(POLG):c.975C>G (p.Pro325=) | 5428 | POLG | Benign/Likely benign | 551973680 | RCV000758541|RCV000868575; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89872222 | 89872222 | | | NC_000015.9:g.89872222G>C | - | | |
NM_002693.3(POLG):c.975C>T (p.Pro325=) | 5428 | POLG | Likely benign | 551973680 | RCV002083314; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872222 | 89872222 | | | 89872222 | - | | |
NM_002693.3(POLG):c.971C>G (p.Pro324Arg) | 5428 | POLG | Uncertain significance | 764492040 | RCV001369621|RCV002548624; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89872226 | 89872226 | | | 89872226 | - | | |
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) | 5428 | POLG | Conflicting interpretations of pathogenicity | 2307437 | RCV000127555|RCV000468571|RCV000710190|RCV001121509|RCV001847613|RCV002371780; | N | MedGen: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:C0950123 | 15 | 89872227 | 89872227 | | | 15:g.89872227G>A | ClinGen:CA292863,UniProtKB:P54098#VAR_014905 | C0751651 Mitochondrial diseases; | |
NM_002693.3(POLG):c.970C>A (p.Pro324Thr) | 5428 | POLG | Conflicting interpretations of pathogenicity | 2307437 | RCV000195076|RCV000701310|RCV000992693; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89872227 | 89872227 | | | 15:g.89872227G>T | ClinGen:CA209652 | CN169374 not specified; | |
NM_002693.3(POLG):c.968A>G (p.Gln323Arg) | 5428 | POLG | Uncertain significance | 2055560405 | RCV001306467; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872229 | 89872229 | | | 89872229 | - | | |
NM_002693.3(POLG):c.964G>A (p.Val322Ile) | 5428 | POLG | Uncertain significance | 1204119738 | RCV001951758; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872233 | 89872233 | | | 89872233 | - | | |
NM_002693.3(POLG):c.955A>G (p.Lys319Glu) | 5428 | POLG | Conflicting interpretations of pathogenicity | 766465907 | RCV000758272; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872242 | 89872242 | | | NC_000015.9:g.89872242T>C | - | | |
NM_002693.3(POLG):c.952G>A (p.Gly318Ser) | 5428 | POLG | Uncertain significance | -1 | RCV002626337; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872245 | 89872245 | | | NC_000015.9:g.89872245C>T | - | | |
NM_002693.3(POLG):c.950A>G (p.Gln317Arg) | 5428 | POLG | Uncertain significance | 2152068136 | RCV002024435; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872247 | 89872247 | | | 89872247 | - | | |
NM_002693.3(POLG):c.948G>A (p.Lys316=) | 5428 | POLG | Benign/Likely benign | 61756401 | RCV000118023|RCV000433050|RCV000459441|RCV001121510|RCV001847714|RCV002312232; | N | 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:C0950123 | 15 | 89872249 | 89872249 | | | 15:g.89872249C>T | ClinGen:CA232565 | CN517202 not provided; | |
NM_002693.3(POLG):c.945C>A (p.Ala315=) | 5428 | POLG | Likely benign | 1596359643 | RCV000941238; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872252 | 89872252 | | | 15:g.89872252G>T | - | | |
NM_002693.3(POLG):c.937A>C (p.Ile313Leu) | 5428 | POLG | Uncertain significance | 2055560967 | RCV001864125; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872260 | 89872260 | | | 89872260 | - | | |
NM_002693.3(POLG):c.935G>C (p.Trp312Ser) | 5428 | POLG | Uncertain significance | -1 | RCV002877460; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872262 | 89872262 | | | NC_000015.9:g.89872262C>G | - | | |
NM_002693.3(POLG):c.929G>T (p.Ser310Ile) | 5428 | POLG | Uncertain significance | -1 | RCV002785583; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872268 | 89872268 | | | NC_000015.9:g.89872268C>A | - | | |
NM_002693.3(POLG):c.927C>T (p.Arg309=) | 5428 | POLG | Likely benign | 370964643 | RCV001410308; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872270 | 89872270 | | | 89872270 | - | | |
NM_002693.3(POLG):c.927C>A (p.Arg309=) | 5428 | POLG | Likely benign | 370964643 | RCV002216787; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872270 | 89872270 | | | 89872270 | - | | |
NM_002693.3(POLG):c.916A>G (p.Ser306Gly) | 5428 | POLG | Uncertain significance | 896972079 | RCV001916885; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872281 | 89872281 | | | 89872281 | - | | |
NM_002693.3(POLG):c.906A>G (p.Ser302=) | 5428 | POLG | Likely benign | 1383637569 | RCV001505951; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872291 | 89872291 | | | 15:g.89872291T>C | - | | |
NM_002693.3(POLG):c.903C>A (p.Ile301=) | 5428 | POLG | Likely benign | 769104909 | RCV001466161; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872294 | 89872294 | | | 89872294 | - | | |
NM_002693.3(POLG):c.901A>G (p.Ile301Val) | 5428 | POLG | Uncertain significance | 2152068160 | RCV001867760; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872296 | 89872296 | | | 89872296 | - | | |
NM_002693.3(POLG):c.897G>C (p.Met299Ile) | 5428 | POLG | Uncertain significance | -1 | RCV002659609; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872300 | 89872300 | | | NC_000015.9:g.89872300C>G | - | | |
NM_002693.3(POLG):c.895A>G (p.Met299Val) | 5428 | POLG | Uncertain significance | 140262282 | RCV001774254|RCV001868571|RCV002290748; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550 | 15 | 89872302 | 89872302 | | | 89872302 | - | | |
NM_002693.3(POLG):c.890T>C (p.Met297Thr) | 5428 | POLG | Uncertain significance | -1 | RCV003047630; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872307 | 89872307 | | | NC_000015.9:g.89872307A>G | - | | |
NM_002693.3(POLG):c.883A>G (p.Met295Val) | 5428 | POLG | Uncertain significance | 1460331646 | RCV000801152|RCV001772068; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89872314 | 89872314 | | | 15:g.89872314T>C | - | | |
NM_002693.3(POLG):c.869G>A (p.Arg290His) | 5428 | POLG | Uncertain significance | 146603953 | RCV000802900|RCV000992692|RCV002495084; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|6 conditions | 15 | 89872328 | 89872328 | | | 15:g.89872328C>T | - | | |
NM_002693.3(POLG):c.868C>T (p.Arg290Cys) | 5428 | POLG | Conflicting interpretations of pathogenicity | 753416225 | RCV001093440|RCV001847155|RCV002555968|RCV002554873|RCV003155359; | N | MedGen: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:35698 | 15 | 89872329 | 89872329 | | | 15:g.89872329G>A | - | | |
NM_002693.3(POLG):c.867G>A (p.Met289Ile) | 5428 | POLG | Uncertain significance | 2055562116 | RCV001064186; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872330 | 89872330 | | | 15:g.89872330C>T | - | | |
NM_002693.3(POLG):c.866T>C (p.Met289Thr) | 5428 | POLG | Uncertain significance | 2152068184 | RCV001976171; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872331 | 89872331 | | | 89872331 | - | | |
NM_002693.3(POLG):c.865A>C (p.Met289Leu) | 5428 | POLG | Uncertain significance | 2152068187 | RCV002022069; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872332 | 89872332 | | | 89872332 | - | | |
NM_002693.3(POLG):c.865A>G (p.Met289Val) | 5428 | POLG | Uncertain significance | -1 | RCV002947607; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872332 | 89872332 | | | NC_000015.9:g.89872332T>C | - | | |
NM_002693.3(POLG):c.863G>A (p.Arg288His) | 5428 | POLG | Uncertain significance | 796052902 | RCV000188647|RCV001323328|RCV003155113; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374 | 15 | 89872334 | 89872334 | | | NC_000015.9:g.89872334C>T | ClinGen:CA316817 | CN169374 not specified; | |
NM_002693.3(POLG):c.862C>T (p.Arg288Cys) | 5428 | POLG | Conflicting interpretations of pathogenicity | 564582352 | RCV000188646|RCV000806434|RCV000768290; | N | MedGen: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: | 15 | 89872335 | 89872335 | | | NC_000015.9:g.89872335G>A | ClinGen:CA316815 | CN169374 not specified; | |
NM_002693.3(POLG):c.856G>C (p.Gly286Arg) | 5428 | POLG | Uncertain significance | -1 | RCV003027480; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872341 | 89872341 | | | NC_000015.9:g.89872341C>G | - | | |
NM_002693.3(POLG):c.856-17CTC[6] | 5428 | POLG | Conflicting interpretations of pathogenicity | 200056162 | RCV001663444|RCV003106246; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872343 | 89872344 | | | 89872343 | - | | |
NM_002693.3(POLG):c.856-17CTC[4] | 5428 | POLG | Benign/Likely benign | 200056162 | RCV000188547|RCV000676326|RCV001080908|RCV002444764; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89872344 | 89872346 | | | NC_000015.9:g.89872344GAG[4] | ClinGen:CA316640 | CN517202 not provided; | |
NM_002693.3(POLG):c.856-3C>T | 5428 | POLG | Uncertain significance | 576339221 | RCV001373388|RCV002493902; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89872344 | 89872344 | | | 89872344 | - | | |
NM_002693.3(POLG):c.856-6C>T | 5428 | POLG | Likely benign | 543449991 | RCV002066048; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872347 | 89872347 | | | 15:g.89872347G>A | - | | |
NM_002693.3(POLG):c.856-11C>T | 5428 | POLG | Benign/Likely benign | 375058609 | RCV000436691|RCV002061477; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872352 | 89872352 | | | 15:g.89872352G>A | ClinGen:CA7725014 | CN169374 not specified; | |
NM_002693.3(POLG):c.856-14C>T | 5428 | POLG | Likely benign | 745487374 | RCV002120111; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872355 | 89872355 | | | 89872355 | - | | |
NM_002693.3(POLG):c.856-15C>G | 5428 | POLG | Likely benign | -1 | RCV002756363; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872356 | 89872356 | | | NC_000015.9:g.89872356G>C | - | | |
NM_002693.3(POLG):c.856-18_856-16del | 5428 | POLG | Likely benign | -1 | RCV002760728; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89872357 | 89872359 | | | NC_000015.9:g.89872358_89872360del | - | | |
NM_002693.3(POLG):c.855+19A>G | 5428 | POLG | Likely benign | 888039212 | RCV000758540; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873293 | 89873293 | | | NC_000015.9:g.89873293T>C | - | | |
NM_002693.3(POLG):c.855+17del | 5428 | POLG | Likely benign | -1 | RCV002913102; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873295 | 89873295 | | | NC_000015.9:g.89873296del | - | | |
NM_002693.3(POLG):c.855+16C>A | 5428 | POLG | Likely benign | 1567192747 | RCV000758539; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873296 | 89873296 | | | NC_000015.9:g.89873296G>T | - | | |
NM_002693.3(POLG):c.855+9C>A | 5428 | POLG | Likely benign | -1 | RCV002643696; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873303 | 89873303 | | | NC_000015.9:g.89873303G>T | - | | |
NM_002693.3(POLG):c.855+4A>G | 5428 | POLG | Uncertain significance | 1596360240 | RCV000792901; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873308 | 89873308 | | | 15:g.89873308T>C | - | | |
NM_002693.3(POLG):c.855G>C (p.Gln285His) | 5428 | POLG | Uncertain significance | 141367015 | RCV000188644|RCV000758410; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873312 | 89873312 | | | 15:g.89873312C>G | ClinGen:CA316812 | CN517202 not provided; | |
NM_002693.3(POLG):c.852C>T (p.Ile284=) | 5428 | POLG | Benign/Likely benign | 41540414 | RCV000127553|RCV000471756|RCV002312921; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89873315 | 89873315 | | | NC_000015.9:g.89873315G>A | ClinGen:CA292861 | CN169374 not specified; | |
NM_002693.3(POLG):c.851T>C (p.Ile284Thr) | 5428 | POLG | Uncertain significance | 2055574542 | RCV001726966|RCV002032688; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873316 | 89873316 | | | 89873316 | - | | |
NM_002693.3(POLG):c.848T>C (p.Leu283Pro) | 5428 | POLG | Uncertain significance | -1 | RCV002304923; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873319 | 89873319 | | | 89873319 | - | | |
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1290567099 | RCV000989379|RCV000992691|RCV002468611; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298 | 15 | 89873323 | 89873323 | | | 15:g.89873323A>C | - | | |
NM_002693.3(POLG):c.833T>C (p.Ile278Thr) | 5428 | POLG | Uncertain significance | 779502496 | RCV000188623|RCV000806820; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873334 | 89873334 | | | NC_000015.9:g.89873334A>G | ClinGen:CA316776 | CN169374 not specified; | |
NM_002693.3(POLG):c.830A>T (p.His277Leu) | 5428 | POLG | Conflicting interpretations of pathogenicity | 138929605 | RCV000188643|RCV000231645|RCV000396333|RCV000616176|RCV001004406|RCV001847834|RCV002226693|RCV002514036|RCV003235111; | N | MedGen: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:C315091 | 15 | 89873337 | 89873337 | | | 15:g.89873337T>A | ClinGen:CA316810 | C0342782 Mitochondrial DNA depletion syndrome; | |
NM_002693.3(POLG):c.830A>G (p.His277Arg) | 5428 | POLG | Uncertain significance | 138929605 | RCV001222280|RCV002429941; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89873337 | 89873337 | | | 15:g.89873337T>C | - | | |
NM_002693.3(POLG):c.826G>A (p.Ala276Thr) | 5428 | POLG | Uncertain significance | 778531134 | RCV000203005|RCV002515497; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873341 | 89873341 | | | NC_000015.9:g.89873341C>T | ClinGen:CA249206 | CN169374 not specified; | |
NM_002693.3(POLG):c.824G>A (p.Arg275Gln) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1555453950 | RCV000758488|RCV002485967; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89873343 | 89873343 | | | NC_000015.9:g.89873343C>T | - | | |
NM_002693.3(POLG):c.815C>G (p.Ser272Cys) | 5428 | POLG | Uncertain significance | -1 | RCV003055090; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873352 | 89873352 | | | NC_000015.9:g.89873352G>C | - | | |
NM_002693.3(POLG):c.814T>A (p.Ser272Thr) | 5428 | POLG | Uncertain significance | 1567192772 | RCV000815643; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873353 | 89873353 | | | 15:g.89873353A>T | - | | |
NM_002693.3(POLG):c.811G>A (p.Val271Ile) | 5428 | POLG | Uncertain significance | 2141806409 | RCV001916124; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873356 | 89873356 | | | 89873356 | - | | |
NM_002693.3(POLG):c.810T>A (p.Asn270Lys) | 5428 | POLG | Uncertain significance | -1 | RCV002775814; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873357 | 89873357 | | | NC_000015.9:g.89873357A>T | - | | |
NM_002693.3(POLG):c.809A>G (p.Asn270Ser) | 5428 | POLG | Uncertain significance | 1363908609 | RCV001244333|RCV002568585|RCV003132344; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 15 | 89873358 | 89873358 | | | 15:g.89873358T>C | - | | |
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) | 5428 | POLG | Conflicting interpretations of pathogenicity | 61752784 | RCV000177165|RCV000233823|RCV000415771|RCV000709833|RCV000768291|RCV001121511|RCV001847817|RCV002227084|RCV002312719|RCV002516726; | N | MedGen: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:C0205 | 15 | 89873364 | 89873364 | | | 15:g.89873364C>G | ClinGen:CA202319,UniProtKB:P54098#VAR_058873 | CN517202 not provided; | |
NM_002693.3(POLG):c.799G>C (p.Val267Leu) | 5428 | POLG | Likely benign | 1567192788 | RCV000758486; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873368 | 89873368 | | | NC_000015.9:g.89873368C>G | - | | |
NM_002693.3(POLG):c.798G>T (p.Val266=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 143631183 | RCV000186652|RCV000297854|RCV000554937|RCV000723862|RCV002316397; | N | MedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 89873369 | 89873369 | | | NC_000015.9:g.89873369C>A | ClinGen:CA232563 | CN169374 not specified; | |
NM_002693.3(POLG):c.773A>G (p.Gln258Arg) | 5428 | POLG | Uncertain significance | 761830723 | RCV000804872; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873394 | 89873394 | | | 15:g.89873394T>C | - | | |
NM_002693.3(POLG):c.771C>G (p.Thr257=) | 5428 | POLG | Likely benign | -1 | RCV003014063; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873396 | 89873396 | | | | - | | |
NM_002693.3(POLG):c.768C>T (p.Pro256=) | 5428 | POLG | Likely benign | -1 | RCV002972009|RCV003403989; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89873399 | 89873399 | | | | - | | |
NM_002693.3(POLG):c.761G>A (p.Ser254Asn) | 5428 | POLG | Uncertain significance | 2055575699 | RCV001969625; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873406 | 89873406 | | | 89873406 | - | | |
NM_002693.3(POLG):c.760A>T (p.Ser254Cys) | 5428 | POLG | Uncertain significance | -1 | RCV003038214; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873407 | 89873407 | | | NC_000015.9:g.89873407T>A | - | | |
NM_002693.3(POLG):c.759C>G (p.Ala253=) | 5428 | POLG | Likely benign | 1290260260 | RCV002080753; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873408 | 89873408 | | | 89873408 | - | | |
NM_002693.3(POLG):c.757G>C (p.Ala253Pro) | 5428 | POLG | Uncertain significance | -1 | RCV002705563; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873410 | 89873410 | | | NC_000015.9:g.89873410C>G | - | | |
NM_002693.3(POLG):c.753T>A (p.Thr251=) | 5428 | POLG | Likely benign | 148099686 | RCV000758538; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873414 | 89873414 | | | NC_000015.9:g.89873414A>T | - | | |
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) | 5428 | POLG | Conflicting interpretations of pathogenicity | 113994094 | RCV000014447|RCV000014448|RCV000020484|RCV000184009|RCV000188641|RCV000194055|RCV000262479|RCV000415105|RCV001004407|RCV001678594|RCV001642225|RCV001813985|RCV001813742|RCV001847602|RCV002272019|RCV002319423|RCV002313708|RCV002287334|RCV003458331; | N | MONDO: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|MedGen | 15 | 89873415 | 89873415 | | | 15:g.89873415G>A | ClinVar:1698500,ClinGen:CA123142,UniProtKB:P54098#VAR_023664,OMIM:174763.0007 | C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; | |
NM_002693.3(POLG):c.751A>C (p.Thr251Pro) | 5428 | POLG | Uncertain significance | -1 | RCV002876469; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873416 | 89873416 | | | NC_000015.9:g.89873416T>G | - | | |
NM_002693.3(POLG):c.744G>C (p.Glu248Asp) | 5428 | POLG | Uncertain significance | 753407311 | RCV000498616|RCV000542477|RCV002524070; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89873423 | 89873423 | | | 15:g.89873423C>G | ClinGen:CA7725049 | CN169374 not specified; | |
NM_002693.3(POLG):c.741G>T (p.Leu247=) | 5428 | POLG | Likely benign | 2055575944 | RCV001431593; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873426 | 89873426 | | | 89873426 | - | | |
NM_002693.3(POLG):c.739C>G (p.Leu247Val) | 5428 | POLG | Uncertain significance | 754696832 | RCV000728191|RCV001301451|RCV002507281|RCV002535059; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MeSH:D030342,MedGen:C0950123 | 15 | 89873428 | 89873428 | | | NC_000015.9:g.89873428G>C | - | | |
NM_002693.3(POLG):c.735C>A (p.Ile245=) | 5428 | POLG | Likely benign | -1 | RCV002681091; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873432 | 89873432 | | | | - | | |
NM_002693.3(POLG):c.732C>T (p.Leu244=) | 5428 | POLG | Likely benign | 1446601027 | RCV002111586; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873435 | 89873435 | | | 89873435 | - | | |
NM_002693.3(POLG):c.730C>G (p.Leu244Val) | 5428 | POLG | Conflicting interpretations of pathogenicity | 367959489 | RCV001068503|RCV002480430; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89873437 | 89873437 | | | 15:g.89873437G>C | - | | |
NM_002693.3(POLG):c.729C>A (p.Asp243Glu) | 5428 | POLG | Uncertain significance | 757917194 | RCV000523877|RCV000758485|RCV000763998|RCV001121512; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MedGen:C4763519 | 15 | 89873438 | 89873438 | | | 15:g.89873438G>T | ClinGen:CA7725053 | CN169374 not specified; | |
NM_002693.3(POLG):c.722C>T (p.Pro241Leu) | 5428 | POLG | Uncertain significance | 1452571273 | RCV001326765; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873445 | 89873445 | | | 89873445 | - | | |
NM_002693.3(POLG):c.719C>T (p.Ser240Leu) | 5428 | POLG | Uncertain significance | 369175235 | RCV000710189|RCV001216051|RCV002485276; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89873448 | 89873448 | | | NC_000015.9:g.89873448G>A | ClinGen:CA316808 | CN169374 not specified; | |
NM_002693.3(POLG):c.718T>C (p.Ser240Pro) | 5428 | POLG | Uncertain significance | 2141806695 | RCV001914490; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873449 | 89873449 | | | 89873449 | - | | |
NM_002693.3(POLG):c.717G>A (p.Leu239=) | 5428 | POLG | Likely benign | 1188801234 | RCV001493419; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873450 | 89873450 | | | 15:g.89873450C>T | - | | |
NM_002693.3(POLG):c.713A>G (p.Gln238Arg) | 5428 | POLG | Uncertain significance | 56410699 | RCV001219965; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873454 | 89873454 | | | 15:g.89873454T>C | - | | |
NM_002693.3(POLG):c.702T>C (p.Ser234=) | 5428 | POLG | Likely benign | 2141806756 | RCV002178094; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873465 | 89873465 | | | 89873465 | - | | |
NM_002693.3(POLG):c.695G>C (p.Arg232Pro) | 5428 | POLG | Uncertain significance | 113994093 | RCV002044847; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873472 | 89873472 | | | 89873472 | - | | |
NM_002693.3(POLG):c.691G>A (p.Glu231Lys) | 5428 | POLG | Uncertain significance | -1 | RCV002295181; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873476 | 89873476 | | | 89873476 | - | | |
NM_002693.3(POLG):c.687G>A (p.Val229=) | 5428 | POLG | Likely benign | 768884865 | RCV001401628; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873480 | 89873480 | | | 89873480 | - | | |
NM_002693.3(POLG):c.684G>A (p.Leu228=) | 5428 | POLG | Likely benign | 2141806818 | RCV002094509; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873483 | 89873483 | | | 89873483 | - | | |
NM_002693.3(POLG):c.678G>C (p.Gln226His) | 5428 | POLG | Conflicting interpretations of pathogenicity | 147282197 | RCV000633538|RCV000678826|RCV000710188|RCV001121513|RCV001263148|RCV001808471|RCV002362986|RCV003317141; | N | MONDO: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, | 15 | 89873489 | 89873489 | | | NC_000015.9:g.89873489C>G | ClinGen:CA316806 | CN169374 not specified; | |
NM_002693.3(POLG):c.666C>T (p.Ser222=) | 5428 | POLG | Likely benign | 1169956926 | RCV002219287; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873501 | 89873501 | | | 89873501 | - | | |
NM_002693.3(POLG):c.663T>C (p.Tyr221=) | 5428 | POLG | Likely benign | 1596360425 | RCV001478209; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873504 | 89873504 | | | 15:g.89873504A>G | - | | |
NM_002693.3(POLG):c.660-7C>T | 5428 | POLG | Likely benign | 766053530 | RCV000866106|RCV001434423; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873514 | 89873514 | | | 15:g.89873514G>A | - | | |
NM_002693.3(POLG):c.660-9C>T | 5428 | POLG | Likely benign | 776555301 | RCV000940463|RCV001585873; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89873516 | 89873516 | | | 15:g.89873516G>A | - | | |
NM_002693.3(POLG):c.660-10C>T | 5428 | POLG | Likely benign | -1 | RCV002926751; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873517 | 89873517 | | | NC_000015.9:g.89873517G>A | - | | |
NM_002693.3(POLG):c.660-11A>G | 5428 | POLG | Benign/Likely benign | 369731644 | RCV000127551|RCV002055755; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873518 | 89873518 | | | NC_000015.9:g.89873518T>C | ClinGen:CA292860 | CN169374 not specified; | |
NM_002693.3(POLG):c.660-11A>C | 5428 | POLG | Likely benign | -1 | RCV002741675; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873518 | 89873518 | | | NC_000015.9:g.89873518T>G | - | | |
NM_002693.3(POLG):c.660-29T>C | 5428 | POLG | Likely benign | 374159057 | RCV000758537; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873536 | 89873536 | | | NC_000015.9:g.89873536A>G | - | | |
NM_002693.3(POLG):c.660-46G>A | 5428 | POLG | Benign | 2307430 | RCV000758404; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89873553 | 89873553 | | | NC_000015.9:g.89873553C>T | - | | |
NM_002693.3(POLG):c.659+16G>C | 5428 | POLG | Likely benign | -1 | RCV002927392; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876311 | 89876311 | | | NC_000015.9:g.89876311C>G | - | | |
NM_002693.3(POLG):c.659+15G>A | 5428 | POLG | Likely benign | 2055615863 | RCV002110530; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876312 | 89876312 | | | 89876312 | - | | |
NM_002693.3(POLG):c.659+15G>C | 5428 | POLG | Likely benign | -1 | RCV003122003; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876312 | 89876312 | | | NC_000015.9:g.89876312C>G | - | | |
NM_002693.3(POLG):c.659+11G>T | 5428 | POLG | Benign | 3087379 | RCV000188545|RCV000758403; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876316 | 89876316 | | | NC_000015.9:g.89876316C>A | ClinGen:CA316638 | CN169374 not specified; | |
NM_002693.3(POLG):c.659+7A>T | 5428 | POLG | Likely benign | 1233914532 | RCV001960899; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876320 | 89876320 | | | 89876320 | - | | |
NM_002693.3(POLG):c.659+7A>G | 5428 | POLG | Likely benign | -1 | RCV002816050; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876320 | 89876320 | | | NC_000015.9:g.89876320T>C | - | | |
NM_002693.3(POLG):c.659+6T>C | 5428 | POLG | Conflicting interpretations of pathogenicity | 1429417228 | RCV000611606|RCV001860268; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876321 | 89876321 | | | 15:g.89876321A>G | ClinGen:CA658798418 | CN169374 not specified; | |
NM_002693.3(POLG):c.659+4A>G | 5428 | POLG | Uncertain significance | 1260147650 | RCV001936240; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876323 | 89876323 | | | 89876323 | - | | |
NM_002693.3(POLG):c.659G>C (p.Trp220Ser) | 5428 | POLG | Uncertain significance | 1004988362 | RCV000466281; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876327 | 89876327 | | | NC_000015.9:g.89876327C>G | ClinGen:CA16614768 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.653C>T (p.Ser218Leu) | 5428 | POLG | Uncertain significance | 1060500775 | RCV000471830; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876333 | 89876333 | | | NC_000015.9:g.89876333G>A | ClinGen:CA16614584 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.647C>T (p.Ser216Phe) | 5428 | POLG | Uncertain significance | 763592738 | RCV001986384; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876339 | 89876339 | | | 89876339 | - | | |
NM_002693.3(POLG):c.642C>T (p.Ala214=) | 5428 | POLG | Likely benign | -1 | RCV002585249; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876344 | 89876344 | | | | - | | |
NM_002693.3(POLG):c.641C>T (p.Ala214Val) | 5428 | POLG | Uncertain significance | 948866053 | RCV000459940|RCV000550484|RCV003258816|RCV002526395; | N | MONDO: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:C3661900 | 15 | 89876345 | 89876345 | | | NC_000015.9:g.89876345G>A | ClinGen:CA16614585 | C0342782 Mitochondrial DNA depletion syndrome; | |
NM_002693.3(POLG):c.638T>C (p.Val213Ala) | 5428 | POLG | Uncertain significance | 1596362016 | RCV001320292; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876348 | 89876348 | | | 89876348 | - | | |
NM_002693.3(POLG):c.635C>T (p.Ala212Val) | 5428 | POLG | Uncertain significance | 751130039 | RCV000758483; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876351 | 89876351 | | | NC_000015.9:g.89876351G>A | - | | |
NM_002693.3(POLG):c.631T>C (p.Leu211=) | 5428 | POLG | Likely benign | -1 | RCV003079950; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876355 | 89876355 | | | | - | | |
NM_002693.3(POLG):c.629C>T (p.Thr210Ile) | 5428 | POLG | Uncertain significance | 1450989575 | RCV000498550|RCV001227953|RCV002489220; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89876357 | 89876357 | | | 15:g.89876357G>A | ClinGen:CA393770286 | CN169374 not specified; | |
NM_002693.3(POLG):c.625C>G (p.Pro209Ala) | 5428 | POLG | Uncertain significance | -1 | RCV002572253; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876361 | 89876361 | | | NC_000015.9:g.89876361G>C | - | | |
NM_002693.3(POLG):c.620C>G (p.Thr207Ser) | 5428 | POLG | Uncertain significance | -1 | RCV002299253; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876366 | 89876366 | | | 89876366 | - | | |
NM_002693.3(POLG):c.617G>A (p.Gly206Glu) | 5428 | POLG | Uncertain significance | 2055616949 | RCV001205726; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876369 | 89876369 | | | 15:g.89876369C>T | - | | |
NM_002693.3(POLG):c.614A>G (p.Glu205Gly) | 5428 | POLG | Uncertain significance | 2055617012 | RCV001049356; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876372 | 89876372 | | | 15:g.89876372T>C | - | | |
NM_002693.3(POLG):c.611C>G (p.Ala204Gly) | 5428 | POLG | Uncertain significance | 1015074661 | RCV000758482; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876375 | 89876375 | | | NC_000015.9:g.89876375G>C | - | | |
NM_002693.3(POLG):c.609G>C (p.Leu203Phe) | 5428 | POLG | Uncertain significance | 796052900 | RCV000188638|RCV001857639; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876377 | 89876377 | | | NC_000015.9:g.89876377C>G | ClinGen:CA316804 | CN169374 not specified; | |
NM_002693.3(POLG):c.603C>T (p.Val201=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 768005050 | RCV000188637|RCV000724613|RCV001417417; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876383 | 89876383 | | | 15:g.89876383G>A | ClinGen:CA241479 | CN169374 not specified; | |
NM_002693.3(POLG):c.602T>G (p.Val201Gly) | 5428 | POLG | Uncertain significance | 750928338 | RCV000549492; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876384 | 89876384 | | | NC_000015.9:g.89876384A>C | ClinGen:CA7725088 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.601G>T (p.Val201Phe) | 5428 | POLG | Uncertain significance | 2141814471 | RCV001914482; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876385 | 89876385 | | | 89876385 | - | | |
NM_002693.3(POLG):c.600G>A (p.Glu200=) | 5428 | POLG | Likely benign | -1 | RCV003016615; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876386 | 89876386 | | | | - | | |
NM_002693.3(POLG):c.598G>C (p.Glu200Gln) | 5428 | POLG | Uncertain significance | 756447384 | RCV001234424; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876388 | 89876388 | | | 15:g.89876388C>G | - | | |
NM_002693.3(POLG):c.584T>C (p.Leu195Pro) | 5428 | POLG | Uncertain significance | 794727267 | RCV000175728|RCV001852154; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876402 | 89876402 | | | 15:g.89876402A>G | ClinGen:CA241471 | CN169374 not specified; | |
NM_002693.3(POLG):c.583C>A (p.Leu195Met) | 5428 | POLG | Uncertain significance | 997971133 | RCV002001194; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876403 | 89876403 | | | 89876403 | - | | |
NM_002693.3(POLG):c.581C>T (p.Ala194Val) | 5428 | POLG | Conflicting interpretations of pathogenicity | 779122022 | RCV000188544|RCV000727522|RCV001044308|RCV002354530; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89876405 | 89876405 | | | 15:g.89876405G>A | ClinGen:CA316636 | CN169374 not specified; | |
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) | 5428 | POLG | Uncertain significance | 3176162 | RCV000020482|RCV000541557|RCV000724388|RCV001121514|RCV002313715|RCV002476997; | N | MONDO: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 conditions | 15 | 89876408 | 89876408 | | | 15:g.89876408C>T | ClinGen:CA241475,UniProtKB:P54098#VAR_019267 | C0751651 Mitochondrial diseases; | |
NM_002693.3(POLG):c.578G>C (p.Arg193Pro) | 5428 | POLG | Uncertain significance | -1 | RCV002736453; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876408 | 89876408 | | | NC_000015.9:g.89876408C>G | - | | |
NM_002693.3(POLG):c.577C>T (p.Arg193Trp) | 5428 | POLG | Uncertain significance | 772048616 | RCV000188690|RCV001857641; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876409 | 89876409 | | | NC_000015.9:g.89876409G>A | ClinGen:CA316887 | CN169374 not specified; | |
NM_002693.3(POLG):c.569C>T (p.Pro190Leu) | 5428 | POLG | Uncertain significance | 1179914559 | RCV001364371; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876417 | 89876417 | | | 89876417 | - | | |
NM_002693.3(POLG):c.568C>G (p.Pro190Ala) | 5428 | POLG | Uncertain significance | -1 | RCV002791950; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876418 | 89876418 | | | NC_000015.9:g.89876418G>C | - | | |
NM_002693.3(POLG):c.565A>G (p.Ile189Val) | 5428 | POLG | Uncertain significance | 769547245 | RCV000188689|RCV002514037; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876421 | 89876421 | | | NC_000015.9:g.89876421T>C | ClinGen:CA316885 | CN169374 not specified; | |
NM_002693.3(POLG):c.553G>A (p.Val185Ile) | 5428 | POLG | Uncertain significance | 953495957 | RCV001317394; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876433 | 89876433 | | | 89876433 | - | | |
NM_002693.3(POLG):c.552C>T (p.Ala184=) | 5428 | POLG | Likely benign | -1 | RCV002629140; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876434 | 89876434 | | | | - | | |
NM_002693.3(POLG):c.549G>C (p.Glu183Asp) | 5428 | POLG | Uncertain significance | 1555454267 | RCV000521117|RCV002527564; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876437 | 89876437 | | | 15:g.89876437C>G | ClinGen:CA393770900 | CN169374 not specified; | |
NM_002693.3(POLG):c.547G>C (p.Glu183Gln) | 5428 | POLG | Uncertain significance | 762582785 | RCV000597762|RCV001298502; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876439 | 89876439 | | | 15:g.89876439C>G | ClinGen:CA7725096 | CN169374 not specified; | |
NM_002693.3(POLG):c.544G>C (p.Gly182Arg) | 5428 | POLG | Uncertain significance | 768242927 | RCV001771029|RCV001861106; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876442 | 89876442 | | | 89876442 | - | | |
NM_002693.3(POLG):c.543G>A (p.Glu181=) | 5428 | POLG | Uncertain significance | 773882973 | RCV001920362; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876443 | 89876443 | | | 89876443 | - | | |
NM_002693.3(POLG):c.542A>C (p.Glu181Ala) | 5428 | POLG | Uncertain significance | 761349383 | RCV001891545; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876444 | 89876444 | | | 89876444 | - | | |
NM_002693.3(POLG):c.538C>T (p.Pro180Ser) | 5428 | POLG | Uncertain significance | 1567193954 | RCV000758481; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876448 | 89876448 | | | NC_000015.9:g.89876448G>A | - | | |
NM_002693.3(POLG):c.536G>T (p.Gly179Val) | 5428 | POLG | Uncertain significance | -1 | RCV002303895; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876450 | 89876450 | | | 89876450 | - | | |
NM_002693.3(POLG):c.534C>T (p.Tyr178=) | 5428 | POLG | Likely benign | 766962517 | RCV002545896; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876452 | 89876452 | | | 15:g.89876452G>A | - | | |
NM_002693.3(POLG):c.528C>T (p.Thr176=) | 5428 | POLG | Likely benign | 750915606 | RCV000758392; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876458 | 89876458 | | | NC_000015.9:g.89876458G>A | - | | |
NM_002693.3(POLG):c.514_525del (p.Ala172_Trp175del) | 5428 | POLG | Uncertain significance | -1 | RCV003055926; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876461 | 89876472 | | | NC_000015.9:g.89876465_89876476del | - | | |
NM_002693.3(POLG):c.522C>G (p.Gly174=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 766842881 | RCV000598054|RCV001848983|RCV002341525|RCV002532480; | N | MedGen:CN517202|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876464 | 89876464 | | | 15:g.89876464G>C | ClinGen:CA7725103 | CN169374 not specified; | |
NM_002693.3(POLG):c.519G>A (p.Glu173=) | 5428 | POLG | Likely benign | -1 | RCV002908077; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876467 | 89876467 | | | | - | | |
NM_002693.3(POLG):c.516G>A (p.Ala172=) | 5428 | POLG | Likely benign | 1028326668 | RCV000758391; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876470 | 89876470 | | | NC_000015.9:g.89876470C>T | - | | |
NM_002693.3(POLG):c.510_515dup (p.169WA[3]) | 5428 | POLG | Uncertain significance | 2141814680 | RCV002050928; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876470 | 89876471 | | | 89876470 | - | | |
NM_002693.3(POLG):c.501G>A (p.Pro167=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 886044612 | RCV000362221|RCV002061144; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876485 | 89876485 | | | 15:g.89876485C>T | ClinGen:CA10606974 | CN169374 not specified; | |
NM_002693.3(POLG):c.501G>C (p.Pro167=) | 5428 | POLG | Likely benign | -1 | RCV002861269; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876485 | 89876485 | | | | - | | |
NM_002693.3(POLG):c.500C>T (p.Pro167Leu) | 5428 | POLG | Uncertain significance | 1424057005 | RCV002027712; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876486 | 89876486 | | | 89876486 | - | | |
NM_002693.3(POLG):c.497C>T (p.Pro166Leu) | 5428 | POLG | Uncertain significance | -1 | RCV002839401; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876489 | 89876489 | | | NC_000015.9:g.89876489G>A | - | | |
NM_002693.3(POLG):c.491C>T (p.Pro164Leu) | 5428 | POLG | Uncertain significance | 1169437119 | RCV001248079; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876495 | 89876495 | | | 15:g.89876495G>A | - | | |
NM_002693.3(POLG):c.490C>G (p.Pro164Ala) | 5428 | POLG | Uncertain significance | 779208296 | RCV001588541|RCV002579489; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876496 | 89876496 | | | 89876496 | - | | |
NM_002693.3(POLG):c.490C>A (p.Pro164Thr) | 5428 | POLG | Uncertain significance | -1 | RCV002834613; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876496 | 89876496 | | | NC_000015.9:g.89876496G>T | - | | |
NM_002693.3(POLG):c.489C>T (p.Pro163=) | 5428 | POLG | Likely benign | 1057520491 | RCV000436305|RCV002524822; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876497 | 89876497 | | | 15:g.89876497G>A | ClinGen:CA16607920 | CN169374 not specified; | |
NM_002693.3(POLG):c.488C>T (p.Pro163Leu) | 5428 | POLG | Uncertain significance | 752892262 | RCV000188636|RCV000633534|RCV002336499; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89876498 | 89876498 | | | 15:g.89876498G>A | ClinGen:CA316802 | CN517202 not provided; | |
NM_002693.3(POLG):c.487C>T (p.Pro163Ser) | 5428 | POLG | Uncertain significance | 758454871 | RCV000712810|RCV000808609|RCV003323697; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374 | 15 | 89876499 | 89876499 | | | NC_000015.9:g.89876499G>A | - | | |
NM_002693.3(POLG):c.484C>T (p.Leu162=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 375445567 | RCV000867916|RCV001692304|RCV001847075; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685 | 15 | 89876502 | 89876502 | | | 15:g.89876502G>A | - | | |
NM_002693.3(POLG):c.482A>G (p.Gln161Arg) | 5428 | POLG | Uncertain significance | 2141814756 | RCV001916927; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876504 | 89876504 | | | 89876504 | - | | |
NM_002693.3(POLG):c.475C>G (p.Gln159Glu) | 5428 | POLG | Uncertain significance | 1487941216 | RCV001955876; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876511 | 89876511 | | | 89876511 | - | | |
NM_002693.3(POLG):c.471G>C (p.Leu157=) | 5428 | POLG | Likely benign | 745813477 | RCV001442318; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876515 | 89876515 | | | 89876515 | - | | |
NM_002693.3(POLG):c.468G>A (p.Leu156=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1567194019 | RCV000731067|RCV002535187; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876518 | 89876518 | | | NC_000015.9:g.89876518C>T | - | | |
NM_002693.3(POLG):c.460G>A (p.Ala154Thr) | 5428 | POLG | Uncertain significance | 753858440 | RCV000188635|RCV000661980|RCV000661981|RCV000692834|RCV002317147; | N | MedGen: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:C0950123 | 15 | 89876526 | 89876526 | | | NC_000015.9:g.89876526C>T | ClinGen:CA316800 | C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; | |
NM_002693.3(POLG):c.453G>A (p.Leu151=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 779981823 | RCV000712809|RCV001050958; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876533 | 89876533 | | | NC_000015.9:g.89876533C>T | - | | |
NM_002693.3(POLG):c.452T>C (p.Leu151Pro) | 5428 | POLG | Uncertain significance | 749018627 | RCV000355004|RCV001323533|RCV001848661; | N | MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685 | 15 | 89876534 | 89876534 | | | NC_000015.9:g.89876534A>G | ClinGen:CA7725111 | CN239393 POLG-Related Spectrum Disorders; | |
NM_002693.3(POLG):c.449A>G (p.Tyr150Cys) | 5428 | POLG | Uncertain significance | 2055620034 | RCV001225024; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876537 | 89876537 | | | 15:g.89876537T>C | - | | |
NM_002693.3(POLG):c.449A>T (p.Tyr150Phe) | 5428 | POLG | Uncertain significance | -1 | RCV003448816; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876537 | 89876537 | | | | - | | |
NM_002693.3(POLG):c.444G>T (p.Leu148=) | 5428 | POLG | Likely benign | 2141814828 | RCV002195992; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876542 | 89876542 | | | 89876542 | - | | |
NM_002693.3(POLG):c.441C>T (p.Ser147=) | 5428 | POLG | Likely benign | 2141814842 | RCV001993162; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876545 | 89876545 | | | 89876545 | - | | |
NM_002693.3(POLG):c.439A>T (p.Ser147Cys) | 5428 | POLG | Uncertain significance | -1 | RCV002811817; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876547 | 89876547 | | | NC_000015.9:g.89876547T>A | - | | |
NM_002693.3(POLG):c.435G>A (p.Lys145=) | 5428 | POLG | Likely benign | 2141814859 | RCV001439790; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876551 | 89876551 | | | 89876551 | - | | |
NM_002693.3(POLG):c.431A>G (p.Gln144Arg) | 5428 | POLG | Uncertain significance | 1056580076 | RCV000758339|RCV002312323|RCV001838125|RCV002499301; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|6 conditions | 15 | 89876555 | 89876555 | | | NC_000015.9:g.89876555T>C | - | | |
NM_002693.3(POLG):c.430C>G (p.Gln144Glu) | 5428 | POLG | Uncertain significance | 2141814867 | RCV001915210; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876556 | 89876556 | | | 89876556 | - | | |
NM_002693.3(POLG):c.428C>T (p.Ala143Val) | 5428 | POLG | Conflicting interpretations of pathogenicity | 796052899 | RCV000758269|RCV000779176|RCV000995420|RCV002288792; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MedGen:C3661900|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595 | 15 | 89876558 | 89876558 | | | NC_000015.9:g.89876558G>A | - | | |
NM_002693.3(POLG):c.418C>T (p.Arg140Cys) | 5428 | POLG | Uncertain significance | 761248036 | RCV000703722|RCV000728691|RCV003407688; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900| | 15 | 89876568 | 89876568 | | | NC_000015.9:g.89876568G>A | ClinGen:CA316881 | CN169374 not specified; | |
NM_002693.3(POLG):c.416T>G (p.Phe139Cys) | 5428 | POLG | Uncertain significance | 2141814897 | RCV002032272; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876570 | 89876570 | | | 89876570 | - | | |
NM_002693.3(POLG):c.414C>T (p.His138=) | 5428 | POLG | Likely benign | 916364510 | RCV002197681; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876572 | 89876572 | | | 89876572 | - | | |
NM_002693.3(POLG):c.414C>G (p.His138Gln) | 5428 | POLG | Uncertain significance | -1 | RCV002856390; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876572 | 89876572 | | | NC_000015.9:g.89876572G>C | - | | |
NM_002693.3(POLG):c.413A>C (p.His138Pro) | 5428 | POLG | Uncertain significance | 766932926 | RCV001234423; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876573 | 89876573 | | | 15:g.89876573T>G | - | | |
NM_002693.3(POLG):c.411G>A (p.Gln137=) | 5428 | POLG | Likely benign | -1 | RCV003121104; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876575 | 89876575 | | | | - | | |
NM_002693.3(POLG):c.410A>G (p.Gln137Arg) | 5428 | POLG | Uncertain significance | -1 | RCV002829795; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876576 | 89876576 | | | NC_000015.9:g.89876576T>C | - | | |
NM_002693.3(POLG):c.408C>G (p.Asp136Glu) | 5428 | POLG | Conflicting interpretations of pathogenicity | 115109291 | RCV000514076|RCV000758561|RCV002321762; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89876578 | 89876578 | | | NC_000015.9:g.89876578G>C | ClinGen:CA316796 | CN517202 not provided; | |
NM_002693.3(POLG):c.402C>G (p.Asn134Lys) | 5428 | POLG | Uncertain significance | 759939229 | RCV001241075|RCV002499399|RCV003328664; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MedGen:CN517202 | 15 | 89876584 | 89876584 | | | 15:g.89876584G>C | - | | |
NM_002693.3(POLG):c.401A>G (p.Asn134Ser) | 5428 | POLG | Uncertain significance | 765542094 | RCV001320882|RCV001726487; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89876585 | 89876585 | | | 89876585 | - | | |
NM_002693.3(POLG):c.401A>T (p.Asn134Ile) | 5428 | POLG | Uncertain significance | -1 | RCV002575580; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876585 | 89876585 | | | NC_000015.9:g.89876585T>A | - | | |
NM_002693.3(POLG):c.398A>G (p.Asp133Gly) | 5428 | POLG | Uncertain significance | 540905618 | RCV000524560|RCV001311062; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89876588 | 89876588 | | | NC_000015.9:g.89876588T>C | ClinGen:CA7725120 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.396G>A (p.Gly132=) | 5428 | POLG | Likely benign | -1 | RCV002815154; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876590 | 89876590 | | | | - | | |
NM_002693.3(POLG):c.395G>A (p.Gly132Glu) | 5428 | POLG | Uncertain significance | 1060500774 | RCV000466430|RCV000658267; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89876591 | 89876591 | | | NC_000015.9:g.89876591C>T | ClinGen:CA16614589 | CN517202 not provided; | |
NM_002693.3(POLG):c.394G>A (p.Gly132Arg) | 5428 | POLG | Uncertain significance | -1 | RCV002886619|RCV003230756; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374 | 15 | 89876592 | 89876592 | | | NC_000015.9:g.89876592C>T | - | | |
NM_002693.3(POLG):c.391T>C (p.Tyr131His) | 5428 | POLG | Conflicting interpretations of pathogenicity | 562847013 | RCV000469850|RCV000578205|RCV000726559|RCV001116622|RCV001252352|RCV002321761; | N | MONDO: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 Ontolog | 15 | 89876595 | 89876595 | | | NC_000015.9:g.89876595A>G | ClinGen:CA316634 | C0342782 Mitochondrial DNA depletion syndrome; | |
NM_002693.3(POLG):c.390C>T (p.Leu130=) | 5428 | POLG | Likely benign | 1214539830 | RCV001455797; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876596 | 89876596 | | | 89876596 | - | | |
NM_002693.3(POLG):c.388C>T (p.Leu130Phe) | 5428 | POLG | Uncertain significance | 201261842 | RCV000706965|RCV000712807; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89876598 | 89876598 | | | NC_000015.9:g.89876598G>A | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.386C>T (p.Pro129Leu) | 5428 | POLG | Uncertain significance | -1 | RCV003448815; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876600 | 89876600 | | | | - | | |
NM_002693.3(POLG):c.384G>T (p.Pro128=) | 5428 | POLG | Likely benign | 558958919 | RCV000427763|RCV000758390; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876602 | 89876602 | | | 15:g.89876602C>A | ClinGen:CA10602287 | CN169374 not specified; | |
NM_002693.3(POLG):c.384G>C (p.Pro128=) | 5428 | POLG | Likely benign | 558958919 | RCV002128102; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876602 | 89876602 | | | 89876602 | - | | |
NM_002693.3(POLG):c.381G>T (p.Leu127=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1057524724 | RCV000430052|RCV001532267|RCV002522712; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876605 | 89876605 | | | 15:g.89876605C>A | ClinGen:CA16607929 | CN169374 not specified; | |
NM_002693.3(POLG):c.379C>T (p.Leu127=) | 5428 | POLG | Likely benign | -1 | RCV003071982; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876607 | 89876607 | | | | - | | |
NM_002693.3(POLG):c.378C>G (p.Arg126=) | 5428 | POLG | Likely benign | 754748773 | RCV001493409; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876608 | 89876608 | | | 15:g.89876608G>C | - | | |
NM_002693.3(POLG):c.372G>T (p.Glu124Asp) | 5428 | POLG | Uncertain significance | 1036577228 | RCV001999231|RCV002464507; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89876614 | 89876614 | | | 89876614 | - | | |
NM_002693.3(POLG):c.371A>T (p.Glu124Val) | 5428 | POLG | Uncertain significance | 1418568120 | RCV001873982; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876615 | 89876615 | | | 89876615 | - | | |
NM_002693.3(POLG):c.367G>C (p.Val123Leu) | 5428 | POLG | Uncertain significance | 2055621640 | RCV001926541; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876619 | 89876619 | | | 89876619 | - | | |
NM_002693.3(POLG):c.366C>T (p.Asp122=) | 5428 | POLG | Likely benign | -1 | RCV002968001; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876620 | 89876620 | | | | - | | |
NM_002693.3(POLG):c.364G>T (p.Asp122Tyr) | 5428 | POLG | Uncertain significance | 2055621716 | RCV001298243; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876622 | 89876622 | | | 89876622 | - | | |
NM_002693.3(POLG):c.363C>G (p.Pro121=) | 5428 | POLG | Likely benign | 2055621743 | RCV002081615; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876623 | 89876623 | | | 89876623 | - | | |
NM_002693.3(POLG):c.360G>T (p.Leu120Phe) | 5428 | POLG | Uncertain significance | 886043905 | RCV000376637|RCV000693003; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876626 | 89876626 | | | 15:g.89876626C>A | ClinGen:CA10606097 | CN169374 not specified; | |
NM_002693.3(POLG):c.355C>T (p.Pro119Ser) | 5428 | POLG | Uncertain significance | 1420577605 | RCV001768832|RCV001861087; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876631 | 89876631 | | | 89876631 | - | | |
NM_002693.3(POLG):c.352G>A (p.Val118Met) | 5428 | POLG | Uncertain significance | 778608349 | RCV001216751; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876634 | 89876634 | | | 15:g.89876634C>T | - | | |
NM_002693.3(POLG):c.352G>T (p.Val118Leu) | 5428 | POLG | Uncertain significance | -1 | RCV002829508; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876634 | 89876634 | | | NC_000015.9:g.89876634C>A | - | | |
NM_002693.3(POLG):c.347C>A (p.Pro116Gln) | 5428 | POLG | Uncertain significance | 747828222 | RCV000591987|RCV002531048; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876639 | 89876639 | | | 15:g.89876639G>T | ClinGen:CA393772461 | CN169374 not specified; | |
NM_002693.3(POLG):c.347C>G (p.Pro116Arg) | 5428 | POLG | Uncertain significance | 747828222 | RCV000758477; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876639 | 89876639 | | | NC_000015.9:g.89876639G>C | - | | |
NM_002693.3(POLG):c.346C>T (p.Pro116Ser) | 5428 | POLG | Uncertain significance | 771676521 | RCV000188686|RCV001307238|RCV002500576; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89876640 | 89876640 | | | NC_000015.9:g.89876640G>A | ClinGen:CA316879 | CN169374 not specified; | |
NM_002693.3(POLG):c.346C>A (p.Pro116Thr) | 5428 | POLG | Uncertain significance | 771676521 | RCV001876598; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876640 | 89876640 | | | 89876640 | - | | |
NM_002693.3(POLG):c.340G>A (p.Gly114Arg) | 5428 | POLG | Uncertain significance | -1 | RCV003095689; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876646 | 89876646 | | | NC_000015.9:g.89876646C>T | - | | |
NM_002693.3(POLG):c.337T>A (p.Trp113Arg) | 5428 | POLG | Uncertain significance | 746450616 | RCV001979552; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876649 | 89876649 | | | 89876649 | - | | |
NM_002693.3(POLG):c.333G>T (p.Gly111=) | 5428 | POLG | Likely benign | 56221189 | RCV000460499|RCV000616864; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374 | 15 | 89876653 | 89876653 | | | NC_000015.9:g.89876653C>A | ClinGen:CA16614590 | CN169374 not specified; | |
NM_002693.3(POLG):c.331G>C (p.Gly111Arg) | 5428 | POLG | Uncertain significance | 760170099 | RCV000995421|RCV002067611|RCV001858812|RCV002479171; | N | MedGen: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; M | 15 | 89876655 | 89876655 | | | 15:g.89876655C>G | - | | |
NM_002693.3(POLG):c.330C>T (p.His110=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 376266682 | RCV000540376|RCV000591767; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89876656 | 89876656 | | | NC_000015.9:g.89876656G>A | ClinGen:CA274566083 | CN169374 not specified; | |
NM_002693.3(POLG):c.328C>T (p.His110Tyr) | 5428 | POLG | Conflicting interpretations of pathogenicity | 139599587 | RCV000461638|RCV000727081|RCV000768048|RCV001804925|RCV002317148; | N | MONDO: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; MON | 15 | 89876658 | 89876658 | | | NC_000015.9:g.89876658G>A | ClinGen:CA316877 | CN169374 not specified; | |
NM_002693.3(POLG):c.327G>T (p.Lys109Asn) | 5428 | POLG | Uncertain significance | 2055622519 | RCV001987683; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876659 | 89876659 | | | 89876659 | - | | |
NM_002693.3(POLG):c.325A>G (p.Lys109Glu) | 5428 | POLG | Uncertain significance | 368137494 | RCV001308603; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876661 | 89876661 | | | 89876661 | - | | |
NM_002693.3(POLG):c.322C>G (p.Gln108Glu) | 5428 | POLG | Uncertain significance | 931281951 | RCV002041515; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876664 | 89876664 | | | 89876664 | - | | |
NM_002693.3(POLG):c.319C>T (p.Leu107=) | 5428 | POLG | Likely benign | 1440493081 | RCV001410123|RCV001692380; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89876667 | 89876667 | | | 89876667 | - | | |
NM_002693.3(POLG):c.318C>T (p.His106=) | 5428 | POLG | Likely benign | -1 | RCV003013587; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876668 | 89876668 | | | | - | | |
NM_002693.3(POLG):c.315G>A (p.Glu105=) | 5428 | POLG | Likely benign | 1411980838 | RCV001495568; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876671 | 89876671 | | | 89876671 | - | | |
NM_002693.3(POLG):c.313G>C (p.Glu105Gln) | 5428 | POLG | Uncertain significance | 1049712904 | RCV001966717; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876673 | 89876673 | | | 89876673 | - | | |
NM_002693.3(POLG):c.306C>T (p.Arg102=) | 5428 | POLG | Likely benign | -1 | RCV003023946; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876680 | 89876680 | | | | - | | |
NM_002693.3(POLG):c.304C>A (p.Arg102Ser) | 5428 | POLG | Uncertain significance | 1328607569 | RCV001214351; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876682 | 89876682 | | | 15:g.89876682G>T | - | | |
NM_002693.3(POLG):c.304C>T (p.Arg102Cys) | 5428 | POLG | Uncertain significance | 1328607569 | RCV001318721; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876682 | 89876682 | | | 89876682 | - | | |
NM_002693.3(POLG):c.300G>T (p.Val100=) | 5428 | POLG | Likely benign | 2141815244 | RCV002075273; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876686 | 89876686 | | | 89876686 | - | | |
NM_002693.3(POLG):c.297G>A (p.Ala99=) | 5428 | POLG | Likely benign | 953515097 | RCV000981405; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876689 | 89876689 | | | 15:g.89876689C>T | - | | |
NM_002693.3(POLG):c.288C>G (p.Gly96=) | 5428 | POLG | Likely benign | 149324249 | RCV002118897; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876698 | 89876698 | | | 89876698 | - | | |
NM_002693.3(POLG):c.282G>A (p.Met94Ile) | 5428 | POLG | Uncertain significance | 753739487 | RCV000812963; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876704 | 89876704 | | | 15:g.89876704C>T | - | | |
NM_002693.3(POLG):c.282G>T (p.Met94Ile) | 5428 | POLG | Uncertain significance | 753739487 | RCV001247831; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876704 | 89876704 | | | 15:g.89876704C>A | - | | |
NM_002693.3(POLG):c.280A>T (p.Met94Leu) | 5428 | POLG | Uncertain significance | 778753625 | RCV002023700; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876706 | 89876706 | | | 89876706 | - | | |
NM_002693.3(POLG):c.279G>A (p.Glu93=) | 5428 | POLG | Likely benign | 1367245840 | RCV002081764; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876707 | 89876707 | | | 89876707 | - | | |
NM_002693.3(POLG):c.274G>C (p.Gly92Arg) | 5428 | POLG | Uncertain significance | 747837325 | RCV001307022; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876712 | 89876712 | | | 89876712 | - | | |
NM_002693.3(POLG):c.274G>A (p.Gly92Arg) | 5428 | POLG | Uncertain significance | -1 | RCV003070304; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876712 | 89876712 | | | NC_000015.9:g.89876712C>T | - | | |
NM_002693.3(POLG):c.264C>T (p.Phe88=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 144439703 | RCV000118014|RCV000227341|RCV000436920|RCV001116623|RCV001847711|RCV002313915; | N | MedGen: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:C0950123 | 15 | 89876722 | 89876722 | | | 15:g.89876722G>A | ClinGen:CA288984 | CN517202 not provided; | |
NM_002693.3(POLG):c.264C>G (p.Phe88Leu) | 5428 | POLG | Conflicting interpretations of pathogenicity | 144439703 | RCV000431950|RCV000693072; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876722 | 89876722 | | | 15:g.89876722G>C | ClinGen:CA7725145 | CN517202 not provided; | |
NM_002693.3(POLG):c.261C>A (p.Ile87=) | 5428 | POLG | Likely benign | 770543008 | RCV002105604; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876725 | 89876725 | | | 89876725 | - | | |
NM_002693.3(POLG):c.260T>C (p.Ile87Thr) | 5428 | POLG | Uncertain significance | 776347449 | RCV000709970|RCV001861947|RCV002311993; | N | MONDO: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:0011835 | 15 | 89876726 | 89876726 | | | NC_000015.9:g.89876726A>G | - | | |
NM_002693.3(POLG):c.257A>C (p.Gln86Pro) | 5428 | POLG | Uncertain significance | -1 | RCV003045588; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876729 | 89876729 | | | NC_000015.9:g.89876729T>G | - | | |
NM_002693.3(POLG):c.256C>G (p.Gln86Glu) | 5428 | POLG | Uncertain significance | 2141815363 | RCV001905077; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876730 | 89876730 | | | 89876730 | - | | |
NM_002693.3(POLG):c.255G>A (p.Glu85=) | 5428 | POLG | Likely benign | 1332983041 | RCV001464632; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876731 | 89876731 | | | 89876731 | - | | |
NM_002693.3(POLG):c.249G>C (p.Leu83=) | 5428 | POLG | Likely benign | -1 | RCV003043599; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876737 | 89876737 | | | | - | | |
NM_002693.3(POLG):c.246G>T (p.Gly82=) | 5428 | POLG | Likely benign | -1 | RCV002583216; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876740 | 89876740 | | | | - | | |
NM_002693.3(POLG):c.244G>A (p.Gly82Arg) | 5428 | POLG | Uncertain significance | 139134661 | RCV001984233; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876742 | 89876742 | | | 89876742 | - | | |
NM_002693.3(POLG):c.244G>T (p.Gly82Trp) | 5428 | POLG | Uncertain significance | 139134661 | RCV001887588; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876742 | 89876742 | | | 89876742 | - | | |
NM_002693.3(POLG):c.241A>G (p.Arg81Gly) | 5428 | POLG | Uncertain significance | 764544892 | RCV001314900; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876745 | 89876745 | | | 89876745 | - | | |
NM_002693.3(POLG):c.240G>T (p.Ser80=) | 5428 | POLG | Likely benign | 2141815443 | RCV002202635; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876746 | 89876746 | | | 89876746 | - | | |
NM_002693.3(POLG):c.237C>T (p.Leu79=) | 5428 | POLG | Likely benign | 774537232 | RCV001412985; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876749 | 89876749 | | | NC_000015.9:g.89876749G>A | ClinGen:CA7725153 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.231G>C (p.Gln77His) | 5428 | POLG | Uncertain significance | -1 | RCV002298381; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876755 | 89876755 | | | 89876755 | - | | |
NM_002693.3(POLG):c.231G>T (p.Gln77His) | 5428 | POLG | Uncertain significance | -1 | RCV002814667; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876755 | 89876755 | | | NC_000015.9:g.89876755C>A | - | | |
NM_002693.3(POLG):c.222G>A (p.Leu74=) | 5428 | POLG | Likely benign | 758077958 | RCV001407272; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876764 | 89876764 | | | 89876764 | - | | |
NM_002693.3(POLG):c.220T>C (p.Leu74=) | 5428 | POLG | Likely benign | 1241802528 | RCV001698052|RCV002528703; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876766 | 89876766 | | | 15:g.89876766A>G | ClinGen:CA492290043 | CN169374 not specified; | |
NM_002693.3(POLG):c.211C>T (p.His71Tyr) | 5428 | POLG | Uncertain significance | -1 | RCV003019492; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876775 | 89876775 | | | NC_000015.9:g.89876775G>A | - | | |
NM_002693.3(POLG):c.210G>T (p.Arg70=) | 5428 | POLG | Benign/Likely benign | 751225754 | RCV000758513|RCV000920565; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89876776 | 89876776 | | | NC_000015.9:g.89876776C>A | - | | |
NM_002693.3(POLG):c.210G>C (p.Arg70=) | 5428 | POLG | Likely benign | 751225754 | RCV001954079; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876776 | 89876776 | | | 89876776 | - | | |
NM_002693.3(POLG):c.209G>A (p.Arg70Gln) | 5428 | POLG | Uncertain significance | 1031558097 | RCV001934834; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876777 | 89876777 | | | 89876777 | - | | |
NM_002693.3(POLG):c.203A>T (p.Gln68Leu) | 5428 | POLG | Uncertain significance | 1171419088 | RCV001863391; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876783 | 89876783 | | | 89876783 | - | | |
NM_002693.3(POLG):c.200G>C (p.Gly67Ala) | 5428 | POLG | Uncertain significance | 1399456619 | RCV001370598|RCV002488166; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89876786 | 89876786 | | | 89876786 | - | | |
NM_002693.3(POLG):c.199G>A (p.Gly67Arg) | 5428 | POLG | Uncertain significance | 1415744247 | RCV001322797; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876787 | 89876787 | | | 89876787 | - | | |
NM_002693.3(POLG):c.199G>C (p.Gly67Arg) | 5428 | POLG | Uncertain significance | -1 | RCV002913794; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876787 | 89876787 | | | NC_000015.9:g.89876787C>G | - | | |
NM_002693.3(POLG):c.191C>G (p.Ser64Trp) | 5428 | POLG | Uncertain significance | 1397887879 | RCV000758444; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876795 | 89876795 | | | NC_000015.9:g.89876795G>C | - | | |
NM_002693.3(POLG):c.189_191del (p.Ser64del) | 5428 | POLG | Uncertain significance | 2141815620 | RCV001909792; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876795 | 89876797 | | | 89876794 | - | | |
NM_002693.3(POLG):c.191C>T (p.Ser64Leu) | 5428 | POLG | Uncertain significance | -1 | RCV003100461; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876795 | 89876795 | | | NC_000015.9:g.89876795G>A | - | | |
NM_002693.3(POLG):c.188C>T (p.Ser63Phe) | 5428 | POLG | Uncertain significance | 960812250 | RCV002008375; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876798 | 89876798 | | | 89876798 | - | | |
NM_002693.3(POLG):c.187T>C (p.Ser63Pro) | 5428 | POLG | Uncertain significance | 781006710 | RCV001362584|RCV001509501; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89876799 | 89876799 | | | 89876799 | - | | |
NM_002693.3(POLG):c.186A>G (p.Leu62=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 745310138 | RCV000726830|RCV000758358; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876800 | 89876800 | | | 15:g.89876800T>C | ClinGen:CA7725165 | CN169374 not specified; | |
NM_002693.3(POLG):c.184C>T (p.Leu62=) | 5428 | POLG | Likely benign | 144033465 | RCV000866855|RCV002064547; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876802 | 89876802 | | | 15:g.89876802G>A | - | | |
NM_002693.3(POLG):c.183G>T (p.Val61=) | 5428 | POLG | Likely benign | -1 | RCV002612313; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876803 | 89876803 | | | | - | | |
NM_002693.3(POLG):c.179A>C (p.Gln60Pro) | 5428 | POLG | Uncertain significance | -1 | RCV003032953; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876807 | 89876807 | | | NC_000015.9:g.89876807T>G | - | | |
NM_002693.3(POLG):c.178C>A (p.Gln60Lys) | 5428 | POLG | Uncertain significance | 780379693 | RCV001235892; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876808 | 89876808 | | | 15:g.89876808G>T | - | | |
NM_002693.3(POLG):c.177G>T (p.Pro59=) | 5428 | POLG | Likely benign | 372383277 | RCV000868801|RCV001440738; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876809 | 89876809 | | | 15:g.89876809C>A | ClinGen:CA7725169 | CN169374 not specified; | |
NM_002693.3(POLG):c.168_176dup (p.55QPQ[3]) | 5428 | POLG | Uncertain significance | 771937417 | RCV001212583; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876809 | 89876810 | | | 15:g.89876809_89876810insGGCTGCTGA | - | | |
NM_002693.3(POLG):c.177G>C (p.Pro59=) | 5428 | POLG | Likely benign | 372383277 | RCV002078774; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876809 | 89876809 | | | 89876809 | - | | |
NM_002693.3(POLG):c.159_167dup (p.55QPQ[3]) | 5428 | POLG | Likely benign | 776709929 | RCV000931146; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876818 | 89876819 | | | 15:g.89876818_89876819insGGCTGCTGT | - | | |
NM_002693.3(POLG):c.167C>G (p.Pro56Arg) | 5428 | POLG | Uncertain significance | 1022612492 | RCV000530802; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876819 | 89876819 | | | NC_000015.9:g.89876819G>C | ClinGen:CA393773955 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.158_166dup (p.Gln53_Gln55dup) | 5428 | POLG | Likely benign | 769735492 | RCV000633556|RCV001572551; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89876819 | 89876820 | | | 15:g.89876819_89876820insGCTGCTGTT | ClinGen:CA7725174 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.143_166dup (p.Gln48_Gln55dup) | 5428 | POLG | Likely benign | 1555454325 | RCV000633560; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876819 | 89876820 | | | 15:g.89876819_89876820insGCTGCTGTTGCTGCTGCTGCTGCT | ClinGen:CA7725172 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.149_166dup (p.Gln50_Gln55dup) | 5428 | POLG | Uncertain significance | 773536141 | RCV001350359; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876819 | 89876820 | | | 89876819 | - | | |
NM_002693.3(POLG):c.161AGC[3] (p.Gln55_Pro56insGln) | 5428 | POLG | Uncertain significance | -1 | RCV003108957; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876819 | 89876820 | | | NC_000015.9:g.89876821CTG[3] | - | | |
NM_002693.3(POLG):c.167C>T (p.Pro56Leu) | 5428 | POLG | Uncertain significance | -1 | RCV002658015; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876819 | 89876819 | | | NC_000015.9:g.89876819G>A | - | | |
NM_002693.3(POLG):c.161AGC[4] (p.Gln55_Pro56insGlnGln) | 5428 | POLG | Uncertain significance | -1 | RCV002847224; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876819 | 89876820 | | | NC_000015.9:g.89876821CTG[4] | - | | |
NM_002693.3(POLG):c.146_166dup (p.Gln55_Pro56insGlnGlnGlnGlnGlnGlnGln) | 5428 | POLG | Uncertain significance | -1 | RCV002996880; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876819 | 89876820 | | | NC_000015.9:g.89876827_89876847dup | - | | |
NM_002693.3(POLG):c.155_166del (p.Gln52_Gln55del) | 5428 | POLG | Conflicting interpretations of pathogenicity | 761909257 | RCV000188536|RCV000726981|RCV002054220; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876820 | 89876831 | | | NC_000015.9:g.89876827_89876838del | ClinGen:CA316625 | CN169374 not specified; | |
NM_002693.3(POLG):c.158_166del (p.Gln53_Gln55del) | 5428 | POLG | Conflicting interpretations of pathogenicity | 769735492 | RCV000597328|RCV000633570|RCV001081529|RCV002404611; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89876820 | 89876828 | | | 15:g.89876820_89876828del | ClinGen:CA7725171 | CN169374 not specified; | |
NM_002693.3(POLG):c.143_166del (p.Gln48_Gln55del) | 5428 | POLG | Uncertain significance | -1 | RCV003047433; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876820 | 89876843 | | | NC_000015.9:g.89876827_89876850del | - | | |
NM_002693.3(POLG):c.159_164dup (p.Gln54_Gln55dup) | 5428 | POLG | Conflicting interpretations of pathogenicity | 760135553 | RCV000870468|RCV001722389; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89876821 | 89876822 | | | 15:g.89876821_89876822insTGCTGT | ClinGen:CA7725176 | CN169374 not specified; | |
NM_002693.3(POLG):c.162G>A (p.Gln54=) | 5428 | POLG | Uncertain significance | 796052878 | RCV000188537|RCV001753587|RCV002054221; | N | MedGen:CN169374|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876824 | 89876824 | | | NC_000015.9:g.89876824C>T | ClinGen:CA316626 | CN169374 not specified; | |
NM_002693.3(POLG):c.159_161dup (p.Gln55dup) | 5428 | POLG | Likely benign | 768088414 | RCV000188533|RCV000876734|RCV001492580; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876824 | 89876825 | | | NC_000015.9:g.89876827_89876829dup | ClinGen:CA316620 | CN169374 not specified; | |
NM_002693.3(POLG):c.159A>G (p.Gln53=) | 5428 | POLG | Benign/Likely benign | 587781118 | RCV000127542|RCV000676328|RCV000758507; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876827 | 89876827 | | | NC_000015.9:g.89876827T>C | ClinGen:CA292850 | CN517202 not provided; | |
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) | 5428 | POLG | Benign/Likely benign | 41550117 | RCV000153756|RCV000676330|RCV000714693|RCV000758545|RCV001847785|RCV002312681|RCV002492575; | N | MedGen: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 conditions | 15 | 89876827 | 89876828 | | | 15:g.89876827_89876828insTGC | ClinGen:CA295634 | CN517202 not provided; | |
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup) | 5428 | POLG | Benign/Likely benign | 41550117 | RCV000188534|RCV000226737|RCV000514102|RCV001847827|RCV002311278; | N | MedGen: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 | 15 | 89876827 | 89876828 | | | NC_000015.9:g.89876828TGC[13] | ClinGen:CA316621 | CN517202 not provided; | |
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) | 5428 | POLG | Benign/Likely benign | 41550117 | RCV000188532|RCV000224549|RCV001080808|RCV002311277|RCV002492867; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|6 conditions | 15 | 89876827 | 89876828 | | | NC_000015.9:g.89876828TGC[14] | ClinGen:CA316618 | CN517202 not provided; | |
NM_002693.3(POLG):c.158_159insGCAGCAACA (p.Gln53_Gln55dup) | 5428 | POLG | Likely benign | 1555454333 | RCV000481163|RCV002056761; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876827 | 89876828 | | | 15:g.89876827_89876828insTGTTGCTGC | ClinGen:CA16620027 | CN169374 not specified; | |
NM_002693.3(POLG):c.126GCA[16] (p.Gln51_Gln55dup) | 5428 | POLG | Conflicting interpretations of pathogenicity | 41550117 | RCV000540524|RCV001721552|RCV002395144; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 89876827 | 89876828 | | | 15:g.89876827_89876828insTGCTGCTGCTGCTGC | ClinGen:CA16620028 | CN169374 not specified; | |
NM_002693.3(POLG):c.126GCA[15] (p.Gln52_Gln55dup) | 5428 | POLG | Likely benign | 41550117 | RCV000548452|RCV000610037|RCV001722463|RCV002395317; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 89876827 | 89876828 | | | 15:g.89876827_89876828insTGCTGCTGCTGC | ClinGen:CA658658323 | CN169374 not specified; | |
NM_002693.3(POLG):c.126GCA[17] (p.Gln50_Gln55dup) | 5428 | POLG | Conflicting interpretations of pathogenicity | 41550117 | RCV001697437|RCV001854151; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876827 | 89876828 | | | NC_000015.9:g.89876828TGC[17] | ClinGen:CA658798420 | CN169374 not specified; | |
NM_002693.3(POLG):c.159A>T (p.Gln53His) | 5428 | POLG | Uncertain significance | 587781118 | RCV000758287; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876827 | 89876827 | | | NC_000015.9:g.89876827T>A | - | | |
NM_002693.3(POLG):c.159delinsGCAACAGCAGCCT (p.Gln55_Pro56insGlnProGlnGln) | 5428 | POLG | Uncertain significance | 1596362608 | RCV000803049; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876827 | 89876827 | | | 15:g.89876827_89876828insGGCTGCTGTTGC | - | | |
NM_002693.3(POLG):c.158_159insGCAACAGCA (p.Gln53_Gln55dup) | 5428 | POLG | Likely benign | 1555454334 | RCV001466754; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876827 | 89876828 | | | 15:g.89876827_89876828insTGCTGTTGC | - | | |
NM_002693.3(POLG):c.158_159insGCAACA (p.Gln54_Gln55dup) | 5428 | POLG | Uncertain significance | 1555454333 | RCV001296418; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876827 | 89876828 | | | 89876827 | - | | |
NM_002693.3(POLG):c.126GCA[18] (p.Gln49_Gln55dup) | 5428 | POLG | Conflicting interpretations of pathogenicity | 41550117 | RCV001325943|RCV002384437; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89876827 | 89876828 | | | 89876827 | - | | |
NM_002693.3(POLG):c.126GCA[20] (p.Gln47_Gln55dup) | 5428 | POLG | Uncertain significance | 41550117 | RCV001324718; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876827 | 89876828 | | | 89876827 | - | | |
NM_002693.3(POLG):c.126GCA[21] (p.Gln46_Gln55dup) | 5428 | POLG | Uncertain significance | 41550117 | RCV002030210; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876827 | 89876828 | | | 89876827 | - | | |
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del) | 5428 | POLG | Benign/Likely benign | 41550117 | RCV000153755|RCV000462442|RCV000676329|RCV001847784|RCV002312999; | N | MedGen: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 | 15 | 89876828 | 89876830 | | | 15:g.89876828_89876830del | ClinGen:CA295632 | CN517202 not provided; | |
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del) | 5428 | POLG | Benign/Likely benign | 41550117 | RCV000153757|RCV000676331|RCV001080820|RCV002312682|RCV002492576; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|6 conditions | 15 | 89876828 | 89876833 | | | 15:g.89876828_89876833del | ClinGen:CA295636 | CN517202 not provided; | |
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del) | 5428 | POLG | Benign/Likely benign | 41550117 | RCV000188531|RCV000456895|RCV001196416|RCV001572826|RCV001847826|RCV002317143|RCV002503744; | N | MedGen: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 condi | 15 | 89876828 | 89876836 | | | NC_000015.9:g.89876828TGC[8] | ClinGen:CA316616 | CN169374 not specified; | |
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del) | 5428 | POLG | Benign/Likely benign | 41550117 | RCV000188530|RCV000456165|RCV001200206|RCV001847825|RCV002317142; | N | MedGen: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 | 15 | 89876828 | 89876839 | | | NC_000015.9:g.89876828TGC[7] | ClinGen:CA316614 | CN169374 not specified; | |
NM_002693.3(POLG):c.126GCA[6] (p.Gln51_Gln55del) | 5428 | POLG | Benign/Likely benign | 41550117 | RCV000188529|RCV000633535|RCV001795307|RCV002390496; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 89876828 | 89876842 | | | NC_000015.9:g.89876828TGC[6] | ClinGen:CA316612 | CN169374 not specified; | |
NM_002693.3(POLG):c.126GCA[5] (p.Gln50_Gln55del) | 5428 | POLG | Conflicting interpretations of pathogenicity | 41550117 | RCV000188528|RCV000230040|RCV002500575|RCV002514032|RCV003390916; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions|MeSH:D030342,MedGen:C0950123| | 15 | 89876828 | 89876845 | | | NC_000015.9:g.89876828TGC[5] | ClinGen:CA316610 | | |
NM_002693.3(POLG):c.126GCA[4] (p.Gln49_Gln55del) | 5428 | POLG | Conflicting interpretations of pathogenicity | 41550117 | RCV000374160|RCV001244117; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876828 | 89876848 | | | 15:g.89876828_89876848del | ClinGen:CA10606382 | CN169374 not specified; | |
NM_002693.3(POLG):c.158A>C (p.Gln53Pro) | 5428 | POLG | Uncertain significance | 527965158 | RCV000758286; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876828 | 89876828 | | | NC_000015.9:g.89876828T>G | - | | |
NM_002693.3(POLG):c.126GCA[1] (p.Gln46_Gln55del) | 5428 | POLG | Conflicting interpretations of pathogenicity | 41550117 | RCV000758544; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876828 | 89876857 | | | 15:g.89876828_89876857del | - | | |
NM_002693.3(POLG):c.126GCA[3] (p.Gln48_Gln55del) | 5428 | POLG | Uncertain significance | 41550117 | RCV001532268|RCV001873775; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876828 | 89876851 | | | 89876827 | - | | |
NM_002693.3(POLG):c.156G>C (p.Gln52His) | 5428 | POLG | Uncertain significance | 587781117 | RCV001866118|RCV002405259|RCV001589368; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123|MedGen:C3661900 | 15 | 89876830 | 89876830 | | | 89876830 | - | | |
NM_002693.3(POLG):c.155_156insTCA (p.Gln51_Gln52insHis) | 5428 | POLG | Uncertain significance | 573261648 | RCV001974141; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876830 | 89876831 | | | 89876830 | - | | |
NM_002693.3(POLG):c.154C>A (p.Gln52Lys) | 5428 | POLG | Conflicting interpretations of pathogenicity | 376683989 | RCV000758285|RCV000992680|RCV002399700|RCV003401027; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123| | 15 | 89876832 | 89876832 | | | 15:g.89876832G>T | ClinGen:CA316623 | CN169374 not specified; | |
NM_002693.3(POLG):c.153G>A (p.Gln51=) | 5428 | POLG | Benign/Likely benign | 1453538834 | RCV000676332|RCV000758501; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876833 | 89876833 | | | 15:g.89876833C>T | - | CN517202 not provided; | |
NM_002693.3(POLG):c.152_153insACA (p.Gln55dup) | 5428 | POLG | Uncertain significance | 1466061893 | RCV001365007; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876833 | 89876834 | | | 89876833 | - | | |
NM_002693.3(POLG):c.152A>G (p.Gln51Arg) | 5428 | POLG | Uncertain significance | 1478709276 | RCV001372467; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876834 | 89876834 | | | 89876834 | - | | |
NM_002693.3(POLG):c.150G>A (p.Gln50=) | 5428 | POLG | Benign/Likely benign | 766501874 | RCV000758500|RCV000991337|RCV002392961; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 89876836 | 89876836 | | | 15:g.89876836C>T | ClinGen:CA7725184 | CN169374 not specified; | |
NM_002693.3(POLG):c.148C>A (p.Gln50Lys) | 5428 | POLG | Uncertain significance | 752556685 | RCV001313758; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876838 | 89876838 | | | 89876838 | - | | |
NM_002693.3(POLG):c.125_145dup (p.Arg42_Gln48dup) | 5428 | POLG | Uncertain significance | 758359050 | RCV001952931; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876840 | 89876841 | | | 89876840 | - | | |
NM_002693.3(POLG):c.145C>G (p.Gln49Glu) | 5428 | POLG | Benign | 200132079 | RCV001523583; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876841 | 89876841 | | | 89876841 | - | | |
NM_002693.3(POLG):c.125_145del (p.Arg42_Gln48del) | 5428 | POLG | Uncertain significance | -1 | RCV002633647; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876841 | 89876861 | | | NC_000015.9:g.89876843_89876863del | - | | |
NM_002693.3(POLG):c.143_144insCCAGCA (p.Gln47_Gln48insHisGln) | 5428 | POLG | Uncertain significance | 2055627759 | RCV001305824|RCV001576924; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89876842 | 89876843 | | | 89876842 | - | | |
NM_002693.3(POLG):c.143A>G (p.Gln48Arg) | 5428 | POLG | Uncertain significance | 2141816053 | RCV001984925; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876843 | 89876843 | | | 89876843 | - | | |
NM_002693.3(POLG):c.140_141insACA (p.Gln55dup) | 5428 | POLG | Uncertain significance | 1397675423 | RCV001964294; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876845 | 89876846 | | | 89876845 | - | | |
NM_002693.2(POLG):c.125_139dup | 5428 | POLG | Conflicting interpretations of pathogenicity | 780010436 | RCV000483092|RCV000758435|RCV002473023|RCV002526608; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 15 | 89876846 | 89876847 | | | NC_000015.9:g.89876849_89876863dup | ClinGen:CA10602183 | CN169374 not specified; | |
NM_002693.3(POLG):c.125_139del (p.Arg42_Gln46del) | 5428 | POLG | Uncertain significance | 780010436 | RCV000705186|RCV000727691; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89876847 | 89876861 | | | 15:g.89876847_89876861del | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.137A>G (p.Gln46Arg) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1555454339 | RCV000596845|RCV000758405; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876849 | 89876849 | | | 15:g.89876849T>C | ClinGen:CA10602190 | CN169374 not specified; | |
NM_002693.3(POLG):c.134_137delinsG (p.Gln45_Gln46delinsArg) | 5428 | POLG | Uncertain significance | 1567194455 | RCV000704124; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876849 | 89876852 | | | 15:g.89876850_89876852del | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.136_137insGGCAGCAGCAGCAGC (p.Gln45_Gln46insArgGlnGlnGlnGln) | 5428 | POLG | Uncertain significance | 2055628450 | RCV001218732; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876849 | 89876850 | | | 15:g.89876849_89876850insGCTGCTGCTGCTGCC | - | | |
NM_002693.3(POLG):c.136_137insGGCAGCGGCGGCGGCAGCAGCAGCAGCAGC (p.Gln45_Gln46insArgGlnArgArgArgGlnGlnG | 5428 | POLG | Uncertain significance | 2055628450 | RCV001313839; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876849 | 89876850 | | | 89876849 | - | | |
NM_002693.3(POLG):c.136_137insGGCGGCGGCAGCAGC (p.Gln45_Gln46insArgArgArgGlnGln) | 5428 | POLG | Uncertain significance | 2141816159 | RCV002043581; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876849 | 89876850 | | | 89876849 | - | | |
NM_002693.3(POLG):c.134A>G (p.Gln45Arg) | 5428 | POLG | Benign/Likely benign | 201016638 | RCV000175733|RCV000461738|RCV001711597|RCV002314611; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 89876852 | 89876852 | | | 15:g.89876852T>C | ClinGen:CA302810 | CN169374 not specified; | |
NM_002693.3(POLG):c.133_134insGGC (p.Gln44_Gln45insArg) | 5428 | POLG | Likely benign | 1567194472 | RCV000758438; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876852 | 89876853 | | | NC_000015.9:g.89876854_89876855insCGC | - | | |
NM_002693.3(POLG):c.133_134insGGCAGCGGCGGCGGC (p.Gln44_Gln45insArgGlnArgArgArg) | 5428 | POLG | Uncertain significance | 1567194472 | RCV001884026; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876852 | 89876853 | | | 89876852 | - | | |
NM_002693.3(POLG):c.119_133del (p.Arg40_Gln44del) | 5428 | POLG | Uncertain significance | -1 | RCV002635787; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876853 | 89876867 | | | NC_000015.9:g.89876858_89876872del | - | | |
NM_002693.3(POLG):c.125_133del (p.Arg42_Gln44del) | 5428 | POLG | Uncertain significance | -1 | RCV002867208; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876853 | 89876861 | | | NC_000015.9:g.89876855_89876863del | - | | |
NM_002693.3(POLG):c.132G>A (p.Gln44=) | 5428 | POLG | Likely benign | 1596362738 | RCV000933617; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876854 | 89876854 | | | 15:g.89876854C>T | - | | |
NM_002693.3(POLG):c.132G>T (p.Gln44His) | 5428 | POLG | Uncertain significance | 1596362738 | RCV001912423; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876854 | 89876854 | | | 89876854 | - | | |
NM_002693.3(POLG):c.131A>G (p.Gln44Arg) | 5428 | POLG | Conflicting interpretations of pathogenicity | 757120802 | RCV000551143|RCV000724683|RCV002381572|RCV003416076; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MeSH:D030342,MedGen:C0950123| | 15 | 89876855 | 89876855 | | | 15:g.89876855T>C | ClinGen:CA241477 | CN169374 not specified; | |
NM_002693.3(POLG):c.130_131insGGC (p.Gln43_Gln44insArg) | 5428 | POLG | Uncertain significance | 1555454345 | RCV001918803; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876855 | 89876856 | | | 89876855 | - | | |
NM_002693.3(POLG):c.119_130del (p.Arg40_Gln43del) | 5428 | POLG | Uncertain significance | 1274859892 | RCV001948153; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876856 | 89876867 | | | 89876855 | - | | |
NM_002693.3(POLG):c.129G>A (p.Gln43=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 570989155 | RCV000733088|RCV001398848; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876857 | 89876857 | | | NC_000015.9:g.89876857C>T | - | | |
NM_002693.3(POLG):c.128A>G (p.Gln43Arg) | 5428 | POLG | Benign | 28567406 | RCV000118010|RCV000461596|RCV000676333|RCV001116624|RCV001847709|RCV002312228; | N | MedGen: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:C0950123 | 15 | 89876858 | 89876858 | | | 15:g.89876858T>C | ClinGen:CA288980 | CN517202 not provided; | |
NM_002693.3(POLG):c.119GGC[4] (p.Arg42dup) | 5428 | POLG | Conflicting interpretations of pathogenicity | 761080016 | RCV000224767|RCV001088279|RCV001848849; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685 | 15 | 89876858 | 89876859 | | | NC_000015.9:g.89876861CGC[4] | ClinGen:CA7725200 | CN517202 not provided; | |
NM_002693.3(POLG):c.119GGC[5] (p.Arg41_Arg42dup) | 5428 | POLG | Uncertain significance | 761080016 | RCV001057269; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876858 | 89876859 | | | 15:g.89876858_89876859insGCCGCC | - | | |
NM_002693.3(POLG):c.127_128insGGCAGC (p.Arg42_Gln43insArgGln) | 5428 | POLG | Uncertain significance | 776122200 | RCV001351920|RCV003405587; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726| | 15 | 89876858 | 89876859 | | | 89876858 | - | | |
NM_002693.3(POLG):c.127_128insGGCGGCAGC (p.Arg42_Gln43insArgArgGln) | 5428 | POLG | Uncertain significance | -1 | RCV003035089; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876858 | 89876859 | | | NC_000015.9:g.89876860_89876861insTGCCGCCGC | - | | |
NM_002693.3(POLG):c.119GGC[1] (p.Arg41_Arg42del) | 5428 | POLG | Uncertain significance | -1 | RCV003075315; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876859 | 89876864 | | | NC_000015.9:g.89876861CGC[1] | - | | |
NM_002693.3(POLG):c.126G>A (p.Arg42=) | 5428 | POLG | Likely benign | 1287086085 | RCV002205140; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876860 | 89876860 | | | 89876860 | - | | |
NM_002693.3(POLG):c.125G>A (p.Arg42Gln) | 5428 | POLG | Conflicting interpretations of pathogenicity | 74382477 | RCV000545670|RCV000676334|RCV001847824|RCV003401026; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685| | 15 | 89876861 | 89876861 | | | NC_000015.9:g.89876861C>T | ClinGen:CA316606 | CN517202 not provided; | |
NM_002693.3(POLG):c.119G>T (p.Arg40Leu) | 5428 | POLG | Uncertain significance | 200946722 | RCV001509502|RCV001865967; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876867 | 89876867 | | | 89876867 | - | | |
NM_002693.3(POLG):c.116_118del (p.Gln39del) | 5428 | POLG | Uncertain significance | 763663907 | RCV001916753|RCV003407953; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726| | 15 | 89876868 | 89876870 | | | 89876867 | - | | |
NM_002693.3(POLG):c.116A>G (p.Gln39Arg) | 5428 | POLG | Conflicting interpretations of pathogenicity | 749750052 | RCV000188523|RCV000723678|RCV001852486; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876870 | 89876870 | | | NC_000015.9:g.89876870T>C | ClinGen:CA316602 | CN169374 not specified; | |
NM_002693.3(POLG):c.114G>T (p.Gly38=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 794727268 | RCV000175729|RCV001852155|RCV002485137; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89876872 | 89876872 | | | 15:g.89876872C>A | ClinGen:CA241473 | CN169374 not specified; | |
NM_002693.3(POLG):c.113G>A (p.Gly38Glu) | 5428 | POLG | Uncertain significance | 1403540142 | RCV001986546; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876873 | 89876873 | | | 89876873 | - | | |
NM_002693.3(POLG):c.112G>C (p.Gly38Arg) | 5428 | POLG | Uncertain significance | 866945104 | RCV000700618; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876874 | 89876874 | | | 15:g.89876874C>G | - | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.107G>C (p.Ser36Thr) | 5428 | POLG | Uncertain significance | -1 | RCV002636359|RCV003222438; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89876879 | 89876879 | | | NC_000015.9:g.89876879C>G | - | | |
NM_002693.3(POLG):c.104C>T (p.Pro35Leu) | 5428 | POLG | Uncertain significance | 769214289 | RCV001992950; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876882 | 89876882 | | | 89876882 | - | | |
NM_002693.3(POLG):c.96G>C (p.Ala32=) | 5428 | POLG | Likely benign | -1 | RCV002715014; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876890 | 89876890 | | | | - | | |
NM_002693.3(POLG):c.93C>T (p.Pro31=) | 5428 | POLG | Likely benign | 1242493308 | RCV001417200; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876893 | 89876893 | | | 89876893 | - | | |
NM_002693.3(POLG):c.93C>G (p.Pro31=) | 5428 | POLG | Likely benign | -1 | RCV002867030; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876893 | 89876893 | | | | - | | |
NM_002693.3(POLG):c.88G>A (p.Val30Ile) | 5428 | POLG | Uncertain significance | 1321405180 | RCV000995422|RCV002290510|RCV002549911; | N | MedGen:C3661900|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876898 | 89876898 | | | 15:g.89876898C>T | - | | |
NM_002693.3(POLG):c.87C>T (p.Ser29=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 587781116 | RCV000127532|RCV000861520|RCV001116626|RCV001288358|RCV001847752|RCV002371969; | N | MedGen: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:C0950123 | 15 | 89876899 | 89876899 | | | NC_000015.9:g.89876899G>A | ClinGen:CA292838 | CN169374 not specified; | |
NM_002693.3(POLG):c.87C>G (p.Ser29=) | 5428 | POLG | Likely benign | -1 | RCV002720280; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876899 | 89876899 | | | | - | | |
NM_002693.3(POLG):c.86C>G (p.Ser29Cys) | 5428 | POLG | Uncertain significance | 796052895 | RCV000712811|RCV002485275|RCV002517883; | N | MedGen:CN517202|6 conditions|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876900 | 89876900 | | | NC_000015.9:g.89876900G>C | ClinGen:CA316744 | CN169374 not specified; | |
NM_002693.3(POLG):c.82A>T (p.Ser28Cys) | 5428 | POLG | Likely benign | 1567194544 | RCV000758487; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876904 | 89876904 | | | NC_000015.9:g.89876904T>A | - | | |
NM_002693.3(POLG):c.76G>A (p.Val26Ile) | 5428 | POLG | Uncertain significance | -1 | RCV002295072; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876910 | 89876910 | | | 89876910 | - | | |
NM_002693.3(POLG):c.74G>T (p.Trp25Leu) | 5428 | POLG | Uncertain significance | -1 | RCV002296789; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876912 | 89876912 | | | 89876912 | - | | |
NM_002693.3(POLG):c.70C>T (p.Arg24Cys) | 5428 | POLG | Uncertain significance | 1196273210 | RCV000758484; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876916 | 89876916 | | | NC_000015.9:g.89876916G>A | - | | |
NM_002693.3(POLG):c.70C>A (p.Arg24Ser) | 5428 | POLG | Uncertain significance | 1196273210 | RCV001219852; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876916 | 89876916 | | | 15:g.89876916G>T | - | | |
NM_002693.3(POLG):c.67G>A (p.Gly23Arg) | 5428 | POLG | Uncertain significance | 1422899388 | RCV002048453; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876919 | 89876919 | | | 89876919 | - | | |
NM_002693.3(POLG):c.64C>T (p.Pro22Ser) | 5428 | POLG | Uncertain significance | 568058975 | RCV001214773; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876922 | 89876922 | | | 15:g.89876922G>A | - | | |
NM_002693.3(POLG):c.62C>T (p.Ala21Val) | 5428 | POLG | Uncertain significance | 796052893 | RCV002353954|RCV003098190; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876924 | 89876924 | | | 89876924 | - | | |
NM_002693.3(POLG):c.61G>T (p.Ala21Ser) | 5428 | POLG | Uncertain significance | -1 | RCV003081562; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876925 | 89876925 | | | NC_000015.9:g.89876925C>A | - | | |
NM_002693.3(POLG):c.60A>G (p.Pro20=) | 5428 | POLG | Likely benign | 944054671 | RCV000610944|RCV002529438; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876926 | 89876926 | | | 15:g.89876926T>C | ClinGen:CA274566790 | CN169374 not specified; | |
NM_002693.3(POLG):c.60A>C (p.Pro20=) | 5428 | POLG | Likely benign | 944054671 | RCV000758536|RCV001585690; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89876926 | 89876926 | | | NC_000015.9:g.89876926T>G | - | | |
NM_002693.3(POLG):c.58C>T (p.Pro20Ser) | 5428 | POLG | Uncertain significance | 1596362883 | RCV001373260; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876928 | 89876928 | | | 89876928 | - | | |
NM_002693.3(POLG):c.56T>C (p.Val19Ala) | 5428 | POLG | Uncertain significance | 770885465 | RCV001587805|RCV002592482; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876930 | 89876930 | | | 89876930 | - | | |
NM_002693.3(POLG):c.54G>C (p.Pro18=) | 5428 | POLG | Likely benign | 1378670216 | RCV000633567|RCV001417937; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876932 | 89876932 | | | NC_000015.9:g.89876932C>G | ClinGen:CA492290676 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.53C>T (p.Pro18Leu) | 5428 | POLG | Uncertain significance | 1394515933 | RCV001991076; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876933 | 89876933 | | | 89876933 | - | | |
NM_002693.3(POLG):c.53C>A (p.Pro18Gln) | 5428 | POLG | Uncertain significance | 1394515933 | RCV001901127; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876933 | 89876933 | | | 89876933 | - | | |
NM_002693.3(POLG):c.52C>T (p.Pro18Ser) | 5428 | POLG | Uncertain significance | 3087373 | RCV001851970; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876934 | 89876934 | | | 15:g.89876934G>A | ClinGen:CA341889,UniProtKB:P54098#VAR_014904 | C0751651 Mitochondrial diseases; | |
NM_002693.3(POLG):c.48A>C (p.Pro16=) | 5428 | POLG | Likely benign | 1041095432 | RCV002200636; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876938 | 89876938 | | | 89876938 | - | | |
NM_002693.3(POLG):c.42C>T (p.Val14=) | 5428 | POLG | Likely benign | -1 | RCV002569474; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876944 | 89876944 | | | | - | | |
NM_002693.3(POLG):c.39C>T (p.Thr13=) | 5428 | POLG | Likely benign | 535213599 | RCV001418766|RCV001698051; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900 | 15 | 89876947 | 89876947 | | | 15:g.89876947G>A | ClinGen:CA274566822 | CN169374 not specified; | |
NM_002693.3(POLG):c.38C>G (p.Thr13Ser) | 5428 | POLG | Uncertain significance | 1199924512 | RCV000712808|RCV001052244|RCV001849071|RCV002360848; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685|MeSH:D030342,MedGen:C0950123 | 15 | 89876948 | 89876948 | | | NC_000015.9:g.89876948G>C | - | | |
NM_002693.3(POLG):c.37A>G (p.Thr13Ala) | 5428 | POLG | Uncertain significance | 999643917 | RCV001048223|RCV003223693; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202 | 15 | 89876949 | 89876949 | | | 15:g.89876949T>C | - | | |
NM_002693.3(POLG):c.33C>T (p.Gly11=) | 5428 | POLG | Conflicting interpretations of pathogenicity | 1482684558 | RCV000729180|RCV000799230; | N | MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876953 | 89876953 | | | NC_000015.9:g.89876953G>A | - | | |
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) | 5428 | POLG | Conflicting interpretations of pathogenicity | 765472726 | RCV000633544|RCV000724132|RCV000763999|RCV001116627|RCV001252351|RCV001847811|RCV002453618|RCV003407646; | N | MONDO: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,Hum | 15 | 89876954 | 89876954 | | | 15:g.89876954C>T | ClinGen:CA302812,ClinVar:424791 | CN169374 not specified; | |
NM_002693.3(POLG):c.32G>T (p.Gly11Val) | 5428 | POLG | Uncertain significance | 765472726 | RCV000532508; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876954 | 89876954 | | | 15:g.89876954C>A | ClinGen:CA393775294 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.31G>A (p.Gly11Ser) | 5428 | POLG | Likely benign | 764055826 | RCV000758320; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876955 | 89876955 | | | NC_000015.9:g.89876955C>T | - | | |
NM_002693.3(POLG):c.30C>T (p.Ala10=) | 5428 | POLG | Likely benign | 1060504037 | RCV000476036|RCV002489101; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|6 conditions | 15 | 89876956 | 89876956 | | | NC_000015.9:g.89876956G>A | ClinGen:CA16614940 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.29C>T (p.Ala10Val) | 5428 | POLG | Likely benign | 774459114 | RCV000537593; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876957 | 89876957 | | | 15:g.89876957G>A | ClinGen:CA7725214 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.27G>C (p.Val9=) | 5428 | POLG | Likely benign | -1 | RCV002866857; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876959 | 89876959 | | | | - | | |
NM_002693.3(POLG):c.25G>A (p.Val9Met) | 5428 | POLG | Uncertain significance | -1 | RCV002304737; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876961 | 89876961 | | | 89876961 | - | | |
NM_002693.3(POLG):c.21G>A (p.Arg7=) | 5428 | POLG | Likely benign | 1057523280 | RCV000429836|RCV002063440; | N | MedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876965 | 89876965 | | | 15:g.89876965C>T | ClinGen:CA16607076 | CN169374 not specified; | |
NM_002693.3(POLG):c.19A>T (p.Arg7Trp) | 5428 | POLG | Uncertain significance | -1 | RCV002741823; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876967 | 89876967 | | | NC_000015.9:g.89876967T>A | - | | |
NM_002693.3(POLG):c.17G>C (p.Trp6Ser) | 5428 | POLG | Uncertain significance | 1057524249 | RCV000443728|RCV000758292|RCV001252350; | N | MedGen: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:0002 | 15 | 89876969 | 89876969 | | | 15:g.89876969C>G | ClinGen:CA10602200 | CN169374 not specified; | |
NM_002693.3(POLG):c.15C>G (p.Leu5=) | 5428 | POLG | Likely benign | 892999189 | RCV000553911; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876971 | 89876971 | | | 15:g.89876971G>C | ClinGen:CA492290761 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.-25_10dup (p.Leu4delinsProAlaTrpGlySerLeuHisGlnProTer) | 5428 | POLG | Uncertain significance | -1 | RCV002807349; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876975 | 89876976 | | | NC_000015.9:g.89876978_89877012dup | - | | |
NM_002693.3(POLG):c.3G>C (p.Met1Ile) | 5428 | POLG | Uncertain significance | 878877754 | RCV001899454; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876983 | 89876983 | | | 89876983 | - | | |
NM_002693.3(POLG):c.1A>G (p.Met1Val) | 5428 | POLG | Uncertain significance | 201786897 | RCV000633552; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89876985 | 89876985 | | | NC_000015.9:g.89876985T>C | ClinGen:CA274566852 | C0205710 203700 Progressive sclerosing poliodystrophy; | |
NM_002693.3(POLG):c.-80C>T | 5428 | POLG | Conflicting interpretations of pathogenicity | 3087378 | RCV000358599|RCV000735028|RCV001082745|RCV002522809; | N | MedGen:C4763519|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MeSH:D030342,MedGen:C0950123 | 15 | 89877065 | 89877065 | | | NC_000015.9:g.89877065G>A | ClinGen:CA10647470 | CN239393 POLG-Related Spectrum Disorders; | |
NM_002693.2(POLG):c.-647A>G | 5428 | POLG | Benign | 2856268 | RCV000861625|RCV001522971; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89878391 | 89878391 | | | 15:g.89878391T>C | - | | |
NM_002693.3(POLG):c.3568del (p.Arg1190fs) | -1 | POLG;POLGARF;FANCI | Likely pathogenic | 1596348470 | RCV001009078|RCV003467588; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89860682 | 89860682 | | | 15:g.89860682_89860682del | - | | |
NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly) | -1 | POLG;POLGARF;FANCI | Uncertain significance | 144346886 | RCV000292852|RCV000387145|RCV000794915|RCV001121231; | N | MedGen: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:84 | 15 | 89860002 | 89860002 | | | NC_000015.9:g.89860002G>C | ClinGen:CA10646677 | C0015625 Fanconi anemia; | |
NM_000326.5(RLBP1):c.504_508del (p.Ser168fs) | -1 | POLG;RLBP1 | Pathogenic | 1379405913 | RCV000731507|RCV000989373; | N | MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726 | 15 | 89758308 | 89758312 | | | NC_000015.9:g.89758311_89758315del | - | | |
NM_005035.4(POLRMT):c.719C>T (p.Pro240Leu) | 5442 | POLRMT | Uncertain significance | -1 | RCV003148297|RCV003148298; | N | MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0008003,MedGen:C5231255, Orphanet:254892 | 19 | 629643 | 629643 | | | | - | | |