MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:7588
Name:MELAS Syndrome
Definition:A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117)
Alternative IDs:DO:DOID:3687|OMIM:540000
ParentIDs:MESH:D017237|MESH:D020739|MESH:D059345
TreeNumbers:C05.651.460.620.520 |C10.228.140.163.100.535 |C10.228.140.300.275.500 |C10.668.491.500.500.500 |C14.907.253.329.500 |C16.320.565.189.535 |C18.452.132.100.535 |C18.452.648.189.535 |C18.452.660.560.620.520
Synonyms:MELAS |MELAS SYNDROME |Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes |Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode |Myopathy, Mitoc
Slim Mappings:Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: D017241
MeSH: D017241
OMIM: 540000;
MSeqDR LSDB: 00163;
MSeqDR has 2 matches in descendants: 00039; 00472;  
Genes:
Phenotypes
1 HP:0001427Mitochondrial inheritance
2 HP:0008619Bilateral sensorineural hearing impairment
3 HP:0000519Congenital cataract
4 HP:0001635Congestive heart failure
5 HP:0100704Cortical visual impairment
6 HP:0000726Dementia
NAMDC:  Dementia
7 HP:0000819Diabetes mellitus
NAMDC:  Diabetes mellitus
8 HP:0001298Encephalopathy
NAMDC:  Encephalopathy (At least one neurological manifestation marked with an *)
9 HP:0002572Episodic vomiting
10 HP:0002069Generalized tonic-clonic seizures
11 HP:0001507Growth abnormality
NAMDC:  Constitutional
12 HP:0012377Hemianopia
13 HP:0001269Hemiparesis
14 HP:0000822Hypertension
15 HP:0003128Lactic acidosis
16 HP:0001712Left ventricular hypertrophy
17 HP:0002076Migraine
NAMDC:  Migraine Headaches
18 HP:0003737Mitochondrial myopathy
19 HP:0003198Myopathy
NAMDC:  Myopathy
20 HP:0000602Ophthalmoplegia
21 HP:0000408Progressive sensorineural hearing impairment
22 HP:0003200Ragged-red muscle fibers
23 HP:0002401Stroke-like episode
24 HP:0003828Variable expressivity
25 HP:0001716Wolff-Parkinson-White syndrome
NAMDC:  Wolff-Parkinson-White
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_012920.1:m.8969G>A4508MT-ATP6Likely pathogenicrs794726857RCV000171545|RCV000854381|RCV002260628|RCV002247579; YMONDO:MONDO:0010782,MedGen:C4225415,OMIM:500011, Orphanet:2598|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MM89698969m.8969G>AClinGen:CA199769,OMIM:516060.0012C4225415 500011 Myopathy, lactic acidosis, and sideroblastic anemia 3;
NC_012920.1:m.7445A>G-1MT-CO1;MT-TS1Pathogenicrs199474818RCV000010177|RCV000010176|RCV000850885; YMONDO:MONDO:0010779,MedGen:C3151897,OMIM:500008, Orphanet:90641|MONDO:MONDO:0007852,MedGen:C1835672,OMIM:148350, Orphanet:2202|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M74457445m.7445A>GClinGen:CA120547,OMIM:590080.0002C3151897 500008 Deafness, nonsyndromic sensorineural, mitochondrial;
NC_012920.1(MT-CO3):m.9247G>C4514MT-CO3Uncertain significance-1RCV002288257; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M924792479247-
NC_012920.1(MT-CYB):m.15437G>A4519MT-CYBUncertain significancers878853058RCV000224435|RCV000764855|RCV000855292; NMedGen:CN517202|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104; MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:25M1543715437M:g.15437G>AClinGen:CA10581343CN517202 not provided;
NC_012920.1(MT-ND1):m.3380G>A4535MT-ND1Pathogenicrs1603218926RCV000853646; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M33803380M:g.3380G>A-
NC_012920.1:m.3481G>A4535MT-ND1Pathogenicrs587776433RCV000143999|RCV000853660; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M34813481M:g.3481G>AClinGen:CA345910C0023264 256000 Leigh syndrome;
NC_012920.1(MT-ND1):m.3502T>C4535MT-ND1Likely pathogenicrs1603218987RCV000853665|RCV002252257; NMONDO:MONDO:0010780,MedGen:C3151898,OMIM:500009, Orphanet:254864|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M35023502M:g.3502T>C-
m.3697G>A4535MT-ND1Likely pathogenicrs199476122RCV000010386|RCV000010385|RCV000056168|RCV002221474; YMONDO:MONDO:0010772,MedGen:C1839040,OMIM:500001, Orphanet:99718|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:M36973697M:g.3697G>AClinGen:CA120647,OMIM:516000.0012C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
m.3946G>A4535MT-ND1Pathogenic/Likely pathogenicrs199476123RCV000010387|RCV000853718|RCV001542704; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:10M39463946M:g.3946G>AClinGen:CA254862,OMIM:516000.0013C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
m.3949T>C4535MT-ND1Pathogenicrs199476124RCV000010388; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M39493949M:g.3949T>CClinGen:CA254863,OMIM:516000.0014C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1(MT-ND1):m.4142G>A4535MT-ND1Likely pathogenicrs1603219317RCV000853740; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M41424142M:g.4142G>A-
m.11084A>G4538MT-ND4Benignrs199476113RCV000010355|RCV000854703; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1108411084M:g.11084A>GClinGen:CA254857,OMIM:516003.0002C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1(MT-ND5):m.12425del4540MT-ND5Pathogenicrs1603223730RCV000854811|RCV002226500|RCV002249550; NMONDO:MONDO:0010780,MedGen:C3151898,OMIM:500009, Orphanet:254864|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, OrphanetM1241812418M:g.12418_12418del-
m.12770A>G4540MT-ND5Pathogenicrs267606894RCV000010339; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1277012770M:g.12770A>GClinGen:CA254855,OMIM:516005.0004C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
m.13042G>A4540MT-ND5Likely pathogenicrs267606898RCV000010347|RCV000010348|RCV000010349|RCV000854885|RCV002260592; YMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551|MedGen:C1838951|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:53M1304213042M:g.13042G>AClinGen:CA120633,OMIM:516005.0008C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
m.13045A>C4540MT-ND5Pathogenicrs267606895RCV000010340|RCV000010341|RCV000010342; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MedGen:C1838951M1304513045M:g.13045A>CClinGen:CA120629,OMIM:516005.0005C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1(MT-ND5):m.13046T>C4540MT-ND5Likely pathogenicrs1603224015RCV000854886; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1304613046M:g.13046T>C-
m.13084A>T4540MT-ND5Pathogenicrs267606896RCV000010343|RCV000010344; YMedGen:C1838951|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1308413084M:g.13084A>TClinGen:CA120631,OMIM:516005.0006C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1:m.13094T>C4540MT-ND5Pathogenicrs1603224029RCV000854891|RCV002249552|RCV002291219; YMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M1309413094M:g.13094T>C-
NC_012920.1(MT-ND5):m.13289G>A4540MT-ND5Uncertain significance-1RCV002289433; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M132891328913289-
m.13513G>A4540MT-ND5Pathogenicrs267606897RCV000010346|RCV000010345|RCV000144016|RCV000224472|RCV000494941; YMedGen:C1838951|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M1351313513M:g.13513G>AClinGen:CA120632,OMIM:516005.0007C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1(MT-ND5):m.13912C>T4540MT-ND5Uncertain significance-1RCV002288279; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M139121391213912-
NC_012920.1(MT-ND5):m.14021T>C4540MT-ND5Uncertain significance-1RCV002288334; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M140211402114021-
m.14453G>A4541MT-ND6Likely pathogenicrs199476107RCV000010331|RCV000855109|RCV002260589; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M1445314453M:g.14453G>AClinGen:CA254853,OMIM:516006.0005C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1(MT-ND6):m.14465G>A4541MT-ND6Likely pathogenicrs1603224738RCV000855111; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1446514465M:g.14465G>A-
NC_012920.1(MT-CYB):m.5590G>A4553MT-TAUncertain significancers28619345RCV000850805; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55905590M:g.5590G>A-
m.5591G>A4553MT-TAPathogenicrs121434458RCV000010251|RCV000850806|RCV002247299; NHuman Phenotype Ontology:HP:0003737,Human Phenotype Ontology:HP:0008960,MONDO:MONDO:0009637,MedGen:C0162670, Orphanet:206966|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M55915591M:g.5591G>AClinGen:CA254845,OMIM:590000.0002C0162670 251900 Mitochondrial myopathy;
NC_012920.1(MT-CYB):m.5592A>G4553MT-TABenignrs1603220042RCV000850807; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55925592M:g.5592A>G-
NC_012920.1(MT-CYB):m.5600A>G4553MT-TALikely benignrs1603220045RCV000850808; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56005600M:g.5600A>G-
NC_012920.1(MT-CYB):m.5601C>T4553MT-TABenignrs376884056RCV000850809; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56015601M:g.5601C>T-
NC_012920.1(MT-CYB):m.5603C>T4553MT-TABenignrs369496446RCV000850810; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56035603M:g.5603C>T-
NC_012920.1(MT-CYB):m.5604C>T4553MT-TALikely benignrs1603220053RCV000850811; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56045604M:g.5604C>T-
NC_012920.1(MT-CYB):m.5605A>G4553MT-TABenignrs878963919RCV000850812; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56055605M:g.5605A>G-
NC_012920.1(MT-CYB):m.5607T>C4553MT-TAUncertain significancers1603220054RCV000850813; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56075607M:g.5607T>C-
NC_012920.1(MT-CYB):m.5608C>T4553MT-TALikely benignrs1603220057RCV000850814; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56085608M:g.5608C>T-
NC_012920.1(MT-CYB):m.5609T>C4553MT-TAUncertain significancers1603220058RCV000850815; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56095609M:g.5609T>C-
NC_012920.1(MT-CYB):m.5618T>C4553MT-TABenignrs1603220060RCV000850816; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56185618M:g.5618T>C-
NC_012920.1(MT-CYB):m.5619G>A4553MT-TAUncertain significancers1603220062RCV000850817; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56195619M:g.5619G>A-
NC_012920.1(MT-CYB):m.5628T>C4553MT-TABenignrs1556423015RCV000850818; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56285628M:g.5628T>C-
NC_012920.1(MT-CYB):m.5633C>T4553MT-TABenignrs879226228RCV000850819; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56335633M:g.5633C>T-
NC_012920.1(MT-CYB):m.5640A>G4553MT-TALikely benignrs1603220065RCV000850820|RCV001787118; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:CN517202M56405640M:g.5640A>G-
NC_012920.1(MT-CYB):m.5645G>A4553MT-TAUncertain significancers1603220068RCV000850821; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56455645M:g.5645G>A-
NC_012920.1(MT-CYB):m.5654T>C4553MT-TAUncertain significancers1603220072RCV000850822; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56545654M:g.5654T>C-
NC_012920.1(MT-CYB):m.5655T>C4553MT-TABenignrs1556423019RCV000850823; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56555655M:g.5655T>C-
NC_012920.1(MT-CYB):m.5772G>A4511MT-TCBenignrs1556423031RCV000850839; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M57725772M:g.5772G>A-
NC_012920.1(MT-CYB):m.5773G>A4511MT-TCBenignrs9659239RCV000850840; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M57735773M:g.5773G>A-
NC_012920.1(MT-CYB):m.5774T>C4511MT-TCBenignrs1603220102RCV000850841; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M57745774M:g.5774T>C-
NC_012920.1(MT-CYB):m.5774T>G4511MT-TCBenignrs1603220102RCV000850842; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M57745774M:g.5774T>G-
NC_012920.1(MT-CYB):m.5775T>C4511MT-TCBenignrs1603220105RCV000850843; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M57755775M:g.5775T>C-
NC_012920.1(MT-CYB):m.5780G>A4511MT-TCBenignrs878999194RCV000850844; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M57805780M:g.5780G>A-
NC_012920.1(MT-CYB):m.5783G>A4511MT-TCBenignrs1603220110RCV000850845; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M57835783M:g.5783G>A-
NC_012920.1(MT-CYB):m.5786dup4511MT-TCLikely benignrs1603220115RCV000850848; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M57845785M:g.5784_5785insT-
NC_012920.1(MT-CYB):m.5785T>C4511MT-TCBenignrs373493739RCV000850846; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M57855785M:g.5785T>C-
NC_012920.1(MT-CYB):m.5786T>C4511MT-TCBenignrs1603220117RCV000850847; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M57865786M:g.5786T>C-
NC_012920.1(MT-CYB):m.5788T>C4511MT-TCBenignrs1556423033RCV000850849; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M57885788M:g.5788T>C-
NC_012920.1(MT-CYB):m.5791G>A4511MT-TCUncertain significancers1603220121RCV000850850; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M57915791M:g.5791G>A-
NC_012920.1(MT-CYB):m.5793A>G4511MT-TCUncertain significancers1603220122RCV000850851; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M57935793M:g.5793A>G-
NC_012920.1(MT-CYB):m.5794T>C4511MT-TCBenignrs1556423035RCV000850852; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M57945794M:g.5794T>C-
NC_012920.1(MT-CYB):m.5800A>G4511MT-TCLikely benignrs1603220125RCV000850853; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58005800M:g.5800A>G-
NC_012920.1(MT-CYB):m.5802T>C4511MT-TCUncertain significancers1603220128RCV000850854; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58025802M:g.5802T>C-
NC_012920.1(MT-CYB):m.5804A>G4511MT-TCUncertain significancers1603220130RCV000850855; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58045804M:g.5804A>G-
NC_012920.1(MT-CYB):m.5806T>C4511MT-TCBenignrs879211572RCV000850856; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58065806M:g.5806T>C-
NC_012920.1(MT-CYB):m.5807A>G4511MT-TCLikely benignrs386828978RCV000850857; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58075807M:g.5807A>G-
NC_012920.1(MT-CYB):m.5809G>A4511MT-TCUncertain significancers1603220134RCV000850858; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58095809M:g.5809G>A-
NC_012920.1(MT-CYB):m.5811A>G4511MT-TCBenignrs1603220136RCV000850859; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58115811M:g.5811A>G-
m.5814T>C4511MT-TCConflicting interpretations of pathogenicityrs200077222RCV000022896|RCV000506681; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:CN517202M58145814M:g.5814T>CClinGen:CA259739,OMIM:590020.0001C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1(MT-CYB):m.5814T>A4511MT-TCLikely benignrs200077222RCV000850860; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58145814M:g.5814T>A-
NC_012920.1(MT-CYB):m.5817C>T4511MT-TCBenignrs1603220138RCV000850861; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58175817M:g.5817C>T-
NC_012920.1(MT-CYB):m.5819T>C4511MT-TCUncertain significancers1603220139RCV000850862; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58195819M:g.5819T>C-
NC_012920.1(MT-CYB):m.5821G>A4511MT-TCBenignrs56133209RCV000850863; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58215821M:g.5821G>A-
NC_012920.1(MT-CYB):m.5822G>A4511MT-TCBenignrs1556423041RCV000850864; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58225822M:g.5822G>A-
NC_012920.1(MT-CYB):m.5823A>G4511MT-TCBenignrs878875817RCV000850865; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58235823M:g.5823A>G-
NC_012920.1(MT-CYB):m.5824G>A4511MT-TCBenignrs879140945RCV000850866; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58245824M:g.5824G>A-
NC_012920.1(MT-CYB):m.7518A>G4555MT-TDUncertain significancers1603220992RCV000850908; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75187518M:g.7518A>G-
NC_012920.1(MT-CYB):m.7520G>A4555MT-TDUncertain significancers1603220993RCV000850909; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75207520M:g.7520G>A-
NC_012920.1(MT-CYB):m.7521G>A4555MT-TDBenignrs200336937RCV000850910; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75217521M:g.7521G>A-
NC_012920.1(MT-CYB):m.7525T>C4555MT-TDUncertain significancers1603220995RCV000850911; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75257525M:g.7525T>C-
NC_012920.1(MT-CYB):m.7533C>T4555MT-TDBenignrs1603221000RCV000850912; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75337533M:g.7533C>T-
NC_012920.1(MT-CYB):m.7534C>T4555MT-TDLikely benignrs1603221002RCV000850913; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75347534M:g.7534C>T-
NC_012920.1(MT-CYB):m.7538T>C4555MT-TDUncertain significancers1603221004RCV000850914; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75387538M:g.7538T>C-
NC_012920.1(MT-CYB):m.7543A>G4555MT-TDBenignrs1603221006RCV000850915; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75437543M:g.7543A>G-
NC_012920.1(MT-CYB):m.7546T>C4555MT-TDLikely benignrs1603221007RCV000850916; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75467546M:g.7546T>C-
NC_012920.1(MT-CYB):m.7547T>C4555MT-TDBenignrs879076142RCV000850917; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75477547M:g.7547T>C-
NC_012920.1(MT-CYB):m.7552A>G4555MT-TDLikely benignrs1603221008RCV000850918; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75527552M:g.7552A>G-
NC_012920.1(MT-CYB):m.7555T>C4555MT-TDUncertain significancers1603221010RCV000850919; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75557555M:g.7555T>C-
NC_012920.1(MT-CYB):m.7559A>G4555MT-TDBenignrs1556423308RCV000850920; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75597559M:g.7559A>G-
NC_012920.1(MT-CYB):m.7561T>C4555MT-TDBenignrs1603221012RCV000850921; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75617561M:g.7561T>C-
NC_012920.1(MT-CYB):m.7562A>G4555MT-TDUncertain significancers1603221015RCV000850922; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75627562M:g.7562A>G-
NC_012920.1(MT-TD):m.7566G>A4555MT-TDPathogenic/Likely pathogenicrs1603221016RCV000850923|RCV002249543; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M75667566M:g.7566G>A-
NC_012920.1(MT-CYB):m.7567C>T4555MT-TDLikely benignrs1603221018RCV000850924; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75677567M:g.7567C>T-
NC_012920.1(MT-CYB):m.7568dup4555MT-TDUncertain significancers1603221020RCV000850926; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75677568M:g.7567_7568insT-
NC_012920.1(MT-CYB):m.7568T>C4555MT-TDBenignrs1603221019RCV000850925; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75687568M:g.7568T>C-
NC_012920.1(MT-CYB):m.7569A>G4555MT-TDBenignrs1603221021RCV000850927; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75697569M:g.7569A>G-
NC_012920.1(MT-CYB):m.7570A>G4555MT-TDBenignrs1556423311RCV000850928; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75707570M:g.7570A>G-
NC_012920.1(MT-CYB):m.7572T>C4555MT-TDBenignrs1603221022RCV000850929; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75727572M:g.7572T>C-
NC_012920.1(MT-CYB):m.7576A>G4555MT-TDLikely benignrs1603221023RCV000850930; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75767576M:g.7576A>G-
NC_012920.1(MT-CYB):m.7577T>C4555MT-TDUncertain significancers1603221025RCV000850931; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75777577M:g.7577T>C-
NC_012920.1(MT-CYB):m.7581T>C4555MT-TDBenignrs201582552RCV000850932; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75817581M:g.7581T>C-
NC_012920.1(MT-CYB):m.7582C>T4555MT-TDUncertain significancers1603221026RCV000850933; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75827582M:g.7582C>T-
NC_012920.1(MT-CYB):m.7585A>G4555MT-TDLikely benignrs1603221028RCV000850934; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75857585M:g.7585A>G-
m.14674T>C4556MT-TEPathogenic/Likely pathogenicrs387906421RCV000010243|RCV000224954|RCV000495655|RCV000851087; YMONDO:MONDO:0010780,MedGen:C3151898,OMIM:500009, Orphanet:254864|MedGen:CN517202|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1467414674M:g.14674T>CClinGen:CA120581,OMIM:590025.0002C0751651 Mitochondrial diseases;
NC_012920.1(MT-CYB):m.14681G>A4556MT-TEUncertain significancers1603224827RCV000851088; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1468114681M:g.14681G>A-
NC_012920.1(MT-CYB):m.14683A>G4556MT-TEBenignrs1603224828RCV000851089; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1468314683M:g.14683A>G-
NC_012920.1(MT-CYB):m.14684C>T4556MT-TEBenignrs1603224831RCV000851090; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1468414684M:g.14684C>T-
NC_012920.1(MT-CYB):m.14687A>G4556MT-TEBenignrs200189658RCV000851091; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1468714687M:g.14687A>G-
NC_012920.1(MT-CYB):m.14690A>G4556MT-TEBenignrs1603224834RCV000851092; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1469014690M:g.14690A>G-
NC_012920.1(MT-CYB):m.14691C>T4556MT-TELikely benignrs1556424478RCV000851093; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1469114691M:g.14691C>T-
NC_012920.1(MT-CYB):m.14693A>G4556MT-TEBenignrs386829226RCV000851094; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1469314693M:g.14693A>G-
NC_012920.1(MT-CYB):m.14696A>C4556MT-TEBenignrs1556424481RCV000851096; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1469614696M:g.14696A>C-
NC_012920.1(MT-CYB):m.14696A>G4556MT-TEBenignrs1556424481RCV000851095; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1469614696M:g.14696A>G-
NC_012920.1:m.14706A>G4556MT-TEBenignrs1057516070RCV000408927|RCV000408954|RCV000662335|RCV000851097; NMedGen:CN239813; Human Phenotype Ontology:HP:0002572,MedGen:C1838993; Human Phenotype Ontology:HP:0001699,MedGen:C0011071|MedGen:C0424605|MedGen:CN517202|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1470614706M:g.14706A>GClinGen:CA16040637C0424605 Developmental delay;
m.14709T>C4556MT-TEPathogenic/Likely pathogenicrs121434453RCV000010241|RCV000032996|RCV000495337|RCV000851098|RCV001089486; YMedGen:C4016608|MONDO:MONDO:0010785,MedGen:C0342289,OMIM:520000, Orphanet:225|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|Human Phenotype Ontology:HP:0003737,Human Phenotype Ontology:HP:M1470914709M:g.14709T>CClinGen:CA120580,OMIM:590025.0001C0342289 520000 Diabetes-deafness syndrome maternally transmitted;
NC_012920.1(MT-CYB):m.14710G>A4556MT-TEPathogenicrs1603224840RCV000851099; YMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1471014710M:g.14710G>A-
NC_012920.1(MT-CYB):m.14716C>T4556MT-TELikely benignrs1603224841RCV000851100; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1471614716M:g.14716C>T-
NC_012920.1(MT-CYB):m.14727T>C4556MT-TEBenignrs1603224847RCV000851101; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1472714727M:g.14727T>C-
NC_012920.1(MT-CYB):m.14729T>C4556MT-TEUncertain significancers1603224848RCV000851102; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1472914729M:g.14729T>C-
NC_012920.1(MT-CYB):m.14739G>A4556MT-TEPathogenicrs1603224850RCV000851103; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1473914739M:g.14739G>A-
NC_012920.1(MT-CYB):m.578T>C4558MT-TFLikely pathogenicrs1603218446RCV000850630; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M578578M:g.578T>C-
NC_012920.1(MT-CYB):m.579T>C4558MT-TFUncertain significancers1603218447RCV000850631; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M579579M:g.579T>C-
m.583G>A4558MT-TFPathogenicrs118203885RCV000010186; YMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M583583M:g.583G>AClinGen:CA254834,OMIM:590070.0001C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
m.586G>A4558MT-TFPathogenicrs387906734RCV000022903|RCV000850632; NHuman Phenotype Ontology:HP:0006789,MedGen:C1852373|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M586586M:g.586G>AClinGen:CA128831,OMIM:590070.0006C1852373 Mitochondrial encephalopathy;
NC_012920.1(MT-CYB):m.588T>C4558MT-TFUncertain significancers1603218449RCV000850633; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M588588M:g.588T>C-
NC_012920.1(MT-CYB):m.592C>T4558MT-TFBenignrs1603218450RCV000850634; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M592592M:g.592C>T-
NC_012920.1(MT-CYB):m.593T>C4558MT-TFBenignrs879123694RCV000850635; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M593593M:g.593T>C-
NC_012920.1(MT-CYB):m.595dup4558MT-TFBenignrs1603218451RCV000850636; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M593594M:g.593_594insC-
NC_012920.1(MT-CYB):m.595C>A4558MT-TFLikely benignrs1603218452RCV000850637; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M595595M:g.595C>A-
NC_012920.1(MT-CYB):m.595C>T4558MT-TFLikely benignrs1603218452RCV000850638; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M595595M:g.595C>T-
NC_012920.1(MT-CYB):m.596T>C4558MT-TFBenignrs1556422474RCV000850639; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M596596M:g.596T>C-
NC_012920.1(MT-CYB):m.597C>T4558MT-TFBenignrs1603218453RCV000850640; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M597597M:g.597C>T-
NC_012920.1(MT-CYB):m.597_598insT4558MT-TFLikely benignrs1603218455RCV000850641; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M597598M:g.597_598insT-
NC_012920.1(MT-CYB):m.603A>G4558MT-TFLikely benignrs1603218456RCV000850642; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M603603M:g.603A>G-
NC_012920.1(MT-CYB):m.606A>G4558MT-TFBenignrs200056066RCV000850643; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M606606M:g.606A>G-
m.616T>C4558MT-TFLikely pathogenicrs387906420RCV000010189|RCV000850644|RCV001804724|RCV002247290; YMedGen:C4016624|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|Human Phenotype Ontology:HP:0001970,MONDO:MONDO:0001085,MedGen:C0041349|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M616616M:g.616T>CClinGen:CA120552,OMIM:590070.0004C4016624 Epilepsy, mitochondrial;
NC_012920.1(MT-CYB):m.618T>C4558MT-TFPathogenic/Likely pathogenicrs1603218460RCV000850645|RCV002249541; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M618618M:g.618T>C-
NC_012920.1(MT-CYB):m.619T>C4558MT-TFBenignrs1603218462RCV000850646; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M619619M:g.619T>C-
NC_012920.1(MT-CYB):m.621A>G4558MT-TFLikely benignrs1603218463RCV000850647; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M621621M:g.621A>G-
NC_012920.1(MT-CYB):m.624C>T4558MT-TFUncertain significancers1603218465RCV000850648; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M624624M:g.624C>T-
NC_012920.1(MT-CYB):m.628C>T4558MT-TFUncertain significancers1603218467RCV000850649; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M628628M:g.628C>T-
NC_012920.1(MT-CYB):m.629T>A4558MT-TFLikely benignrs201031012RCV000850651; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M629629M:g.629T>A-
NC_012920.1(MT-CYB):m.629T>C4558MT-TFBenignrs201031012RCV000850650; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M629629M:g.629T>C-
NC_012920.1(MT-CYB):m.630C>T4558MT-TFBenignrs1603218468RCV000850652; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M630630M:g.630C>T-
NC_012920.1(MT-CYB):m.633A>G4558MT-TFBenignrs1603218469RCV000850653; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M633633M:g.633A>G-
NC_012920.1(MT-CYB):m.634T>A4558MT-TFBenignrs1603218470RCV000850654; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M634634M:g.634T>A-
NC_012920.1(MT-CYB):m.634T>C4558MT-TFBenignrs1603218470RCV000850655; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M634634M:g.634T>C-
NC_012920.1(MT-CYB):m.635C>T4558MT-TFBenignrs1603218471RCV000850656; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M635635M:g.635C>T-
NC_012920.1(MT-CYB):m.643A>G4558MT-TFUncertain significancers1603218472RCV000850657|RCV001805905; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|Human Phenotype Ontology:HP:0002900,MedGen:C0020621; Human Phenotype Ontology:HP:0002917,Human Phenotype Ontology:HP:0003284,MONDO:MONDO:0018100,MedGen:C0151723,OMIM:PS602014; Human Phenotype OnM643643M:g.643A>G-
NC_012920.1(MT-CYB):m.644A>G4558MT-TFBenignrs1556422475RCV000850658; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M644644M:g.644A>G-
NC_012920.1(MT-CYB):m.647A>G4558MT-TFBenignrs1569483788RCV000850659; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M647647M:g.647A>G-
NC_012920.1(MT-CYB):m.9991A>G4563MT-TGLikely benignrs1603222612RCV000850963; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M99919991M:g.9991A>G-
NC_012920.1(MT-CYB):m.9993T>C4563MT-TGUncertain significancers1603222613RCV000850964; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M99939993M:g.9993T>C-
NC_012920.1(MT-CYB):m.9995T>C4563MT-TGLikely benignrs1603222616RCV000850965; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M99959995M:g.9995T>C-
NC_012920.1(MT-CYB):m.9996T>C4563MT-TGUncertain significancers1556423755RCV000850966; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M99969996M:g.9996T>C-
NC_012920.1(MT-CYB):m.9997T>A4563MT-TGLikely pathogenicrs121434475RCV000850967; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M99979997M:g.9997T>A-
NC_012920.1(MT-CYB):m.10003T>C4563MT-TGBenignrs1603222620RCV000850968; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1000310003M:g.10003T>C-
NC_012920.1(MT-CYB):m.10005A>G4563MT-TGBenignrs1603222621RCV000850969; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1000510005M:g.10005A>G-
NC_012920.1(MT-CYB):m.10005A>T4563MT-TGUncertain significancers1603222621RCV000850970; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1000510005M:g.10005A>T-
NC_012920.1(MT-CYB):m.10006A>G4563MT-TGBenignrs1603222622RCV000850971; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1000610006M:g.10006A>G-
NC_012920.1(MT-CYB):m.10007T>C4563MT-TGBenignrs201906571RCV000850972; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1000710007M:g.10007T>C-
NC_012920.1(MT-CYB):m.10008A>G4563MT-TGUncertain significancers1603222626RCV000850973; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1000810008M:g.10008A>G-
NC_012920.1(MT-CYB):m.10013C>T4563MT-TGLikely benignrs1603222627RCV000850974; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1001310013M:g.10013C>T-
NC_012920.1(MT-CYB):m.10014G>A4563MT-TGUncertain significancers1603222629RCV000850975; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1001410014M:g.10014G>A-
NC_012920.1(MT-CYB):m.10015T>C4563MT-TGUncertain significancers28374827RCV000850976; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1001510015M:g.10015T>C-
NC_012920.1:m.10018A>G4563MT-TGBenignrs1556423757RCV000509360|RCV000850977; NMedGen:CN517202|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1001810018M:g.10018A>GClinGen:CA658653723CN517202 not provided;
NC_012920.1(MT-CYB):m.10020T>C4563MT-TGUncertain significancers1603222636RCV000850978; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1002010020M:g.10020T>C-
NC_012920.1(MT-CYB):m.10027T>C4563MT-TGUncertain significancers1603222638RCV000850979; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1002710027M:g.10027T>C-
NC_012920.1(MT-CYB):m.10029A>G4563MT-TGBenignrs1603222639RCV000850980; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1002910029M:g.10029A>G-
NC_012920.1(MT-CYB):m.10031T>C4563MT-TGBenignrs200048690RCV000850981; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1003110031M:g.10031T>C-
NC_012920.1(MT-CYB):m.10034T>C4563MT-TGBenignrs41347846RCV000850982|RCV002221589; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M1003410034M:g.10034T>C-
NC_012920.1(MT-CYB):m.10040C>T4563MT-TGLikely benignrs1603222642RCV000850983; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1004010040M:g.10040C>T-
NC_012920.1(MT-CYB):m.10042A>G4563MT-TGBenignrs1603222643RCV000850984; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1004210042M:g.10042A>G-
NC_012920.1(MT-CYB):m.10043del4563MT-TGUncertain significancers1603222645RCV000850985; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1004310043M:g.10043_10043del-
m.10044A>G4563MT-TGBenignrs41362547RCV000010237|RCV000850986; NHuman Phenotype Ontology:HP:0001699,MedGen:C0011071|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1004410044M:g.10044A>GClinGen:CA120578,OMIM:590035.0003C0011071 Sudden death;
NC_012920.1(MT-CYB):m.10045T>C4563MT-TGBenignrs1603222648RCV000850987; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1004510045M:g.10045T>C-
NC_012920.1:m.10046T>C4563MT-TGLikely benignrs876661357RCV000223791|RCV000850988; NMedGen:CN169374|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1004610046M:g.10046T>CClinGen:CA10581193CN169374 not specified;
NC_012920.1(MT-CYB):m.10048A>G4563MT-TGUncertain significancers878957961RCV000850989; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1004810048M:g.10048A>G-
NC_012920.1(MT-CYB):m.10055A>G4563MT-TGUncertain significancers1603222653RCV000850990; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1005510055M:g.10055A>G-
NC_012920.1(MT-CYB):m.12141A>G4564MT-THBenignrs1603223565RCV000851009; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1214112141M:g.12141A>G-
NC_012920.1(MT-CYB):m.12142A>G4564MT-THBenignrs1603223566RCV000851010; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1214212142M:g.12142A>G-
NC_012920.1(MT-CYB):m.12143T>C4564MT-THUncertain significancers1603223568RCV000851011; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1214312143M:g.12143T>C-
NC_012920.1(MT-CYB):m.12144A>G4564MT-THUncertain significancers1603223569RCV000851012; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1214412144M:g.12144A>G-
m.12147G>A4564MT-THPathogenicrs121434474RCV000010234|RCV000851013|RCV002247294; YMedGen:C3151970|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M1214712147M:g.12147G>AClinGen:CA120576,OMIM:590040.0003C3151970 MERRF/MELAS overlap syndrome;
NC_012920.1(MT-CYB):m.12148T>C4564MT-THLikely pathogenicrs1603223571RCV000851014; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1214812148M:g.12148T>C-
NC_012920.1(MT-CYB):m.12150T>C4564MT-THUncertain significancers1603223574RCV000851015; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1215012150M:g.12150T>C-
NC_012920.1(MT-CYB):m.12151A>G4564MT-THBenignrs1603223576RCV000851016; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1215112151M:g.12151A>G-
NC_012920.1(MT-TH):m.12153C>T4564MT-THConflicting interpretations of pathogenicityrs376606918RCV000426740|RCV000851017; NMedGen:CN517202|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1215312153M:g.12153C>TClinGen:CA16603227C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_012920.1(MT-CYB):m.12160A>G4564MT-THLikely benignrs1603223579RCV000851018; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1216012160M:g.12160A>G-
NC_012920.1(MT-CYB):m.12161T>C4564MT-THBenignrs386829147RCV000851019; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1216112161M:g.12161T>C-
NC_012920.1(MT-CYB):m.12163A>G4564MT-THUncertain significancers1603223581RCV000851020; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1216312163M:g.12163A>G-
NC_012920.1(MT-CYB):m.12164G>A4564MT-THLikely benignrs1603223582RCV000851021; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1216412164M:g.12164G>A-
NC_012920.1(MT-CYB):m.12166T>C4564MT-THBenignrs879126000RCV000851022; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1216612166M:g.12166T>C-
NC_012920.1(MT-CYB):m.12171A>G4564MT-THBenignrs1603223589RCV000851023; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1217112171M:g.12171A>G-
NC_012920.1(MT-CYB):m.12172A>G4564MT-THBenignrs1556424073RCV000851024; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1217212172M:g.12172A>G-
NC_012920.1(MT-CYB):m.12173T>A4564MT-THUncertain significancers1556424075RCV000851026; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1217312173M:g.12173T>A-
NC_012920.1(MT-CYB):m.12173T>C4564MT-THBenignrs1556424075RCV000851025; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1217312173M:g.12173T>C-
NC_012920.1(MT-TH):m.12175T>C4564MT-THConflicting interpretations of pathogenicityrs1057520099RCV000426541|RCV000851027; NMedGen:CN517202|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1217512175M:g.12175T>CClinGen:CA16603222C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_012920.1(MT-CYB):m.12176G>A4564MT-THUncertain significancers1603223594RCV000851028; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1217612176M:g.12176G>A-
NC_012920.1(MT-CYB):m.12178C>T4564MT-THBenignrs1603223596RCV000851029; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1217812178M:g.12178C>T-
NC_012920.1(MT-CYB):m.12181C>T4564MT-THLikely benignrs1603223598RCV000851030; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1218112181M:g.12181C>T-
NC_012920.1(MT-CYB):m.12184A>G4564MT-THUncertain significancers1603223603RCV000851031; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1218412184M:g.12184A>G-
NC_012920.1(MT-CYB):m.12185G>A4564MT-THUncertain significancers1603223607RCV000851032; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1218512185M:g.12185G>A-
NC_012920.1(MT-CYB):m.12188T>C4564MT-THBenignrs879128211RCV000851033; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1218812188M:g.12188T>C-
NC_012920.1(MT-CYB):m.12189T>C4564MT-THBenignrs28505538RCV000851034; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1218912189M:g.12189T>C-
NC_012920.1(MT-CYB):m.12191C>T4564MT-THBenignrs1603223610RCV000851035; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1219112191M:g.12191C>T-
m.12192G>A4564MT-THBenignrs3134560RCV000010231|RCV000010232|RCV000851036; NMedGen:C4016610|MedGen:C3532240|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1219212192M:g.12192G>AClinGen:CA120574,OMIM:590040.0001C3532240 Cardiomyopathy, hypertrophic, mitochondrial;
NC_012920.1(MT-CYB):m.12193A>G4564MT-THBenignrs1603223611RCV000851037; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1219312193M:g.12193A>G-
NC_012920.1(MT-CYB):m.12196C>T4564MT-THLikely benignrs1556424080RCV000851038; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1219612196M:g.12196C>T-
m.12201T>C4564MT-THUncertain significancers387906733RCV000022899|RCV000851039; NMONDO:MONDO:0010779,MedGen:C3151897,OMIM:500008, Orphanet:90641|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1220112201M:g.12201T>CClinGen:CA259740,OMIM:590040.0004C3151897 500008 Deafness, nonsyndromic sensorineural, mitochondrial;
NC_012920.1(MT-CYB):m.12202T>C4564MT-THUncertain significancers1603223613RCV000851040; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1220212202M:g.12202T>C-
NC_012920.1(MT-CYB):m.12204A>C4564MT-THUncertain significancers1603223614RCV000851041; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1220412204M:g.12204A>C-
NC_012920.1(MT-CYB):m.12205C>T4564MT-THUncertain significancers1603223615RCV000851042; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1220512205M:g.12205C>T-
NC_012920.1(MT-CYB):m.4264G>A4565MT-TIUncertain significancers1603219385RCV000850714; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M42644264M:g.4264G>A-
NC_012920.1:m.4277T>C4565MT-TIBenignrs876661358RCV000223876|RCV000850715|RCV001009555; NMedGen:CN169374|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:CN517202M42774277M:g.4277T>CClinGen:CA10581200CN169374 not specified;
m.4284G>A4565MT-TIConflicting interpretations of pathogenicityrs121434468RCV000010227|RCV000850716|RCV001838978|RCV002247292; NMedGen:C0559758|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:CN517202|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551M42844284M:g.4284G>AClinGen:CA120571,OMIM:590045.0004C0559758 Multisystem disorder;
m.4290T>C4565MT-TIUncertain significancers121434469RCV000010228|RCV000850717; NMedGen:C4016614|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M42904290M:g.4290T>CClinGen:CA120572,OMIM:590045.0005C4016614 Encephalopathy, familial progressive necrotizing;
m.4295A>G4565MT-TIConflicting interpretations of pathogenicityrs121434467RCV000010226|RCV000022900|RCV000224071|RCV000223744|RCV000850718; NMONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155|MONDO:MONDO:0010779,MedGen:C3151897,OMIM:500008, Orphanet:90641|MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M42954295M:g.4295A>GClinGen:CA254841,OMIM:590045.0003C3151897 500008 Deafness, nonsyndromic sensorineural, mitochondrial;
NC_012920.1(MT-CYB):m.4296G>A4565MT-TIPathogenic/Likely pathogenicrs1603219393RCV000850719|RCV002249542; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551M42964296M:g.4296G>A-
NC_012920.1(MT-CYB):m.4298G>A4565MT-TIPathogenicrs1603219395RCV000850720; YMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M42984298M:g.4298G>A-
NC_012920.1(MT-CYB):m.4308G>A4565MT-TIUncertain significancers1603219396RCV000850721|RCV002291218; YMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M43084308M:g.4308G>A-
NC_012920.1(MT-CYB):m.4310A>G4565MT-TIBenignrs1556422841RCV000850722; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43104310M:g.4310A>G-
NC_012920.1(MT-CYB):m.4312C>T4565MT-TIBenignrs193303033RCV000850723; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43124312M:g.4312C>T-
NC_012920.1(MT-CYB):m.4313T>C4565MT-TIBenignrs1603219398RCV000850724; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43134313M:g.4313T>C-
NC_012920.1(MT-CYB):m.4314del4565MT-TILikely benignrs1603219400RCV000850727; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43134313M:g.4313_4313del-
NC_012920.1(MT-CYB):m.4314T>A4565MT-TIBenignrs1603219401RCV000850726; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43144314M:g.4314T>A-
NC_012920.1(MT-CYB):m.4314T>C4565MT-TIBenignrs1603219401RCV000850725; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43144314M:g.4314T>C-
NC_012920.1:m.4317delA4565MT-TIBenignrs876661361RCV000223713|RCV000850730; NMedGen:CN169374|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43154315M:g.4315_4315delClinGen:CA10581203CN169374 not specified;
NC_012920.1:m.4316A>G4565MT-TIBenignrs876661360RCV000223881|RCV000850728; NMedGen:CN169374|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43164316M:g.4316A>GClinGen:CA10581202CN169374 not specified;
m.4317A>G4565MT-TIBenignrs121434465RCV000010224|RCV000850729; NMedGen:C4016612|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43174317M:g.4317A>GClinGen:CA120569,OMIM:590045.0001C4016612 Cardiomyopathy, fatal infantile;
NC_012920.1(MT-CYB):m.4318C>T4565MT-TILikely benignrs1603219405RCV000850731; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43184318M:g.4318C>T-
NC_012920.1(MT-CYB):m.4320C>A4565MT-TIUncertain significancers1603219406RCV000850733; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43204320M:g.4320C>A-
NC_012920.1(MT-CYB):m.4320C>T4565MT-TIUncertain significancers1603219406RCV000850732; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43204320M:g.4320C>T-
NC_012920.1(MT-CYB):m.4327T>C4565MT-TIUncertain significancers1603219411RCV000850734|RCV001090135; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M43274327M:g.4327T>C-
m.8296A>G4566MT-TKBenignrs118192102RCV000010201|RCV000850935; NMONDO:MONDO:0010785,MedGen:C0342289,OMIM:520000, Orphanet:225|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M82968296M:g.8296A>GClinGen:CA120557,OMIM:590060.0005C0342289 520000 Diabetes-deafness syndrome maternally transmitted;
NC_012920.1(MT-CYB):m.8298T>C4566MT-TKLikely benignrs1603221389RCV000850936; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M82988298M:g.8298T>C-
NC_012920.1(MT-CYB):m.8299G>A4566MT-TKLikely pathogenicrs1603221391RCV000850937; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M82998299M:g.8299G>A-
NC_012920.1(MT-CYB):m.8300T>C4566MT-TKLikely benignrs1603221393RCV000850938; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83008300M:g.8300T>C-
NC_012920.1(MT-CYB):m.8301A>G4566MT-TKUncertain significancers1603221396RCV000850939; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83018301M:g.8301A>G-
NC_012920.1(MT-CYB):m.8308A>G4566MT-TKBenignrs879081228RCV000850940; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83088308M:g.8308A>G-
NC_012920.1(MT-CYB):m.8311T>A4566MT-TKUncertain significancers371589230RCV000850942; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83118311M:g.8311T>A-
NC_012920.1(MT-CYB):m.8311T>C4566MT-TKBenignrs371589230RCV000850941; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83118311M:g.8311T>C-
NC_012920.1(MT-CYB):m.8315A>G4566MT-TKLikely benignrs1603221400RCV000850943; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83158315M:g.8315A>G-
NC_012920.1(MT-CYB):m.8319A>G4566MT-TKConflicting interpretations of pathogenicityrs1603221401RCV000850944|RCV002290478; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0010787,MedGen:C0022541,OMIM:530000, Orphanet:480M83198319M:g.8319A>G-
NC_012920.1(MT-CYB):m.8331A>G4566MT-TKLikely benignrs1603221403RCV000850945; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83318331M:g.8331A>G-
NC_012920.1(MT-CYB):m.8337T>C4566MT-TKBenignrs1603221405RCV000850946; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83378337M:g.8337T>C-
NC_012920.1(MT-CYB):m.8338A>G4566MT-TKLikely benignrs1603221407RCV000850947; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83388338M:g.8338A>G-
NC_012920.1(MT-CYB):m.8340_8341insT4566MT-TKUncertain significancers1603221409RCV000850948; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83408341M:g.8340_8341insT-
NC_012920.1(MT-CYB):m.8343A>G4566MT-TKBenignrs1603221411RCV000850949; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83438343M:g.8343A>G-
NC_012920.1(MT-CYB):m.8345C>T4566MT-TKBenignrs1603221413RCV000850951; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83458345M:g.8345C>T-
NC_012920.1(MT-CYB):m.8346C>A4566MT-TKLikely benignrs1603221415RCV000850952; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83468346M:g.8346C>A-
NC_012920.1(MT-CYB):m.8347A>G4566MT-TKBenignrs1603221417RCV000850953; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83478347M:g.8347A>G-
NC_012920.1(MT-CYB):m.8348A>G4566MT-TKBenign/Likely benignrs1556423430RCV000850954|RCV000992386; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:CN517202M83488348M:g.8348A>G-
NC_012920.1(MT-CYB):m.8349C>T4566MT-TKBenignrs1603221418RCV000850955; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83498349M:g.8349C>T-
NC_012920.1(MT-CYB):m.8350A>G4566MT-TKLikely benignrs1603221419RCV000850956; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83508350M:g.8350A>G-
m.8356T>C4566MT-TKPathogenicrs118192099RCV000010196|RCV000010195|RCV000850957; YMedGen:C3151970|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83568356M:g.8356T>CClinGen:CA120554,OMIM:590060.0002C3151970 MERRF/MELAS overlap syndrome;
NC_012920.1(MT-CYB):m.8358A>G4566MT-TKUncertain significancers1603221421RCV000850958; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83588358M:g.8358A>G-
NC_012920.1(MT-CYB):m.8360A>G4566MT-TKBenignrs1603221422RCV000850959; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83608360M:g.8360A>G-
NC_012920.1(MT-CYB):m.8362T>G4566MT-TKPathogenicrs1603221423RCV000850960; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83628362M:g.8362T>G-
m.8363G>A4566MT-TKPathogenicrs118192100RCV000010197|RCV000144004|RCV000192053|RCV000850961; YMedGen:C4016620|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83638363M:g.8363G>AClinGen:CA120555,OMIM:590060.0003C4016620 Cardiomyopathy and Deafness;
NC_012920.1(MT-CYB):m.8364A>T4566MT-TKUncertain significancers1603221428RCV000850962; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83648364M:g.8364A>T-
NC_012920.1(MT-CYB):m.3236A>G4567MT-TL1Benignrs1603218849RCV000850686; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32363236M:g.3236A>G-
m.3242G>A4567MT-TL1Pathogenic/Likely pathogenicrs193303018RCV000010223|RCV000850687; NMONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286, Orphanet:52688|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32423242M:g.3242G>AClinGen:CA280144,OMIM:590050.0012C3463824 614286 Myelodysplastic syndrome;
NC_012920.1(MT-CYB):m.3243A>T4567MT-TL1Pathogenicrs199474657RCV000850688; YMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32433243M:g.3243A>T-
NC_012920.1(MT-CYB):m.3248G>A4567MT-TL1Uncertain significancers879110136RCV000850689; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32483248M:g.3248G>A-
m.3250T>C4567MT-TL1Uncertain significancers199474664RCV000010216|RCV000850690; NMedGen:C4016617|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32503250M:g.3250T>CClinGen:CA120563,OMIM:590050.0008C4016617 Skeletal myopathy, responsive to riboflavin;
m.3251A>G4567MT-TL1Pathogenicrs199474662RCV000010218|RCV000850691; NMedGen:C4016616|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32513251M:g.3251A>GClinGen:CA120565,OMIM:590050.0006C4016616 Progressive external ophthalmoplegia, proximal myopathy, and sudden death;
m.3252A>G4567MT-TL1Likely pathogenicrs199474661RCV000010217|RCV000850692; YMONDO:MONDO:0004675,MedGen:C0162666|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32523252M:g.3252A>GClinGen:CA120564,OMIM:590050.0005C0162666 Mitochondrial encephalomyopathy;
NC_012920.1(MT-CYB):m.3252A>T4567MT-TL1Uncertain significancers199474661RCV000850693; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32523252M:g.3252A>T-
NC_012920.1(MT-CYB):m.3254C>A4567MT-TL1Benignrs1603218855RCV000850695; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32543254M:g.3254C>A-
NC_012920.1(MT-CYB):m.3254C>T4567MT-TL1Likely benignrs1603218855RCV000850694; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32543254M:g.3254C>T-
NC_012920.1(MT-CYB):m.3255G>A4567MT-TL1Pathogenicrs1603218856RCV000850696; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32553255M:g.3255G>A-
m.3256C>T4567MT-TL1Pathogenicrs199474659RCV000010213|RCV000010214|RCV000850697; YMONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551|MedGen:C4017627|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32563256M:g.3256C>TClinGen:CA120561,OMIM:590050.0003C4017627 Diabetes mellitus, noninsulin-dependent, maternally transmitted;
m.3260A>G4567MT-TL1Pathogenicrs199474663RCV000010219|RCV000850698; YMedGen:C4016615|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32603260M:g.3260A>GClinGen:CA120566,OMIM:590050.0007C4016615 Cardiomyopathy with or without skeletal myopathy;
NC_012920.1(MT-CYB):m.3261A>G4567MT-TL1Likely benignrs1603218859RCV000850699; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32613261M:g.3261A>G-
NC_012920.1(MT-CYB):m.3263C>T4567MT-TL1Uncertain significancers1603218860RCV000850700; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32633263M:g.3263C>T-
NC_012920.1(MT-CYB):m.3269A>G4567MT-TL1Uncertain significancers1603218862RCV000850701; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32693269M:g.3269A>G-
m.3271T>C4567MT-TL1Pathogenicrs199474658RCV000010212|RCV000507161|RCV000763624; YMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:CN169374|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550; MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551M32713271M:g.3271T>CClinGen:CA254839,OMIM:590050.0002C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1(MT-CYB):m.3272T>C4567MT-TL1Uncertain significancers1603218865RCV000850702; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32723272M:g.3272T>C-
m.3274A>G4567MT-TL1Conflicting interpretations of pathogenicityrs199474666RCV000010221|RCV000850703|RCV002288480; NMedGen:C4016618|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551M32743274M:g.3274A>GClinGen:CA120568,OMIM:590050.0010C4016618 Neuropsychiatric disorder and early-onset cataract;
NC_012920.1(MT-CYB):m.3275C>A4567MT-TL1Likely benignrs1057516057RCV000850705; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32753275M:g.3275C>A-
NC_012920.1(MT-CYB):m.3275C>G4567MT-TL1Likely benignrs1057516057RCV000850704; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32753275M:g.3275C>G-
NC_012920.1(MT-CYB):m.3277G>A4567MT-TL1Benignrs386828902RCV000850707; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32773277M:g.3277G>A-
NC_012920.1(MT-CYB):m.3278T>C4567MT-TL1Benignrs1603218868RCV000850708; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32783278M:g.3278T>C-
NC_012920.1(MT-CYB):m.3288A>G4567MT-TL1Likely pathogenicrs1603218872RCV000850709; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32883288M:g.3288A>G-
m.3290T>C4567MT-TL1Benignrs199474665RCV000010220|RCV000850710; NEFO:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32903290M:g.3290T>CClinGen:CA120567,OMIM:590050.0009C0038644 272120 SUDDEN INFANT DEATH SYNDROME;
NC_012920.1:m.3291T>C4567MT-TL1Likely pathogenicrs869312463RCV000850711|RCV002291215; YMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M32913291M:g.3291T>C-
NC_012920.1(MT-CYB):m.3302A>G4567MT-TL1Pathogenicrs1603218878RCV000850712; YMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M33023302M:g.3302A>G-
m.3303C>T4567MT-TL1Pathogenicrs199474660RCV000010215|RCV000850713; YMedGen:C4016615|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M33033303M:g.3303C>TClinGen:CA120562,OMIM:590050.0004C4016615 Cardiomyopathy with or without skeletal myopathy;
NC_012920.1(MT-CYB):m.12273A>G4568MT-TL2Likely benignrs1603223644RCV000851067; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1227312273M:g.12273A>G-
NC_012920.1(MT-CYB):m.12276G>A4568MT-TL2Pathogenicrs1603223645RCV000851068; YMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1227612276M:g.12276G>A-
NC_012920.1(MT-CYB):m.12278T>C4568MT-TL2Uncertain significancers1603223646RCV000851069; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1227812278M:g.12278T>C-
NC_012920.1(MT-CYB):m.12279A>G4568MT-TL2Benignrs1603223647RCV000851070; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1227912279M:g.12279A>G-
NC_012920.1(MT-CYB):m.12279A>T4568MT-TL2Likely benignrs1603223647RCV000851071; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1227912279M:g.12279A>T-
NC_012920.1(MT-CYB):m.12280A>G4568MT-TL2Benignrs1603223649RCV000851072; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1228012280M:g.12280A>G-
NC_012920.1(MT-CYB):m.12281C>T4568MT-TL2Benignrs1603223651RCV000851073; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1228112281M:g.12281C>T-
NC_012920.1(MT-CYB):m.12285T>C4568MT-TL2Benignrs386419957RCV000851074; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1228512285M:g.12285T>C-
NC_012920.1(MT-CYB):m.12291T>C4568MT-TL2Uncertain significancers1603223653RCV000851075; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1229112291M:g.12291T>C-
NC_012920.1(MT-CYB):m.12293G>A4568MT-TL2Uncertain significancers1603223654RCV000851076|RCV001090166; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M1229312293M:g.12293G>A-
NC_012920.1(MT-CYB):m.12295T>C4568MT-TL2Benignrs1603223656RCV000851077; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1229512295M:g.12295T>C-
m.12297T>C4568MT-TL2Benignrs121434464RCV000010205|RCV000851078|RCV000844938; NMedGen:C3532239|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:CN517202M1229712297M:g.12297T>CClinGen:CA120559,OMIM:590055.0003C3532239 Cardiomyopathy, mitochondrial;
NC_012920.1(MT-CYB):m.12302C>A4568MT-TL2Uncertain significancers1603223658RCV000851079; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1230212302M:g.12302C>A-
NC_012920.1(MT-CYB):m.12302C>T4568MT-TL2Uncertain significancers1603223658RCV000851080; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1230212302M:g.12302C>T-
NC_012920.1(MT-CYB):m.12310dup4568MT-TL2Benignrs1603223659RCV000851082; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1230512306M:g.12305_12306insA-
NC_012920.1(MT-CYB):m.12308A>G4568MT-TL2Benignrs2853498RCV000851081|RCV002221590; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M1230812308M:g.12308A>G-
NC_012920.1(MT-CYB):m.12311T>C4568MT-TL2Benignrs201754056RCV000851083; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1231112311M:g.12311T>C-
m.12315G>A4568MT-TL2Pathogenicrs121434462RCV000010203|RCV000851084; YMONDO:MONDO:0004675,MedGen:C0162666|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1231512315M:g.12315G>AClinGen:CA120558,OMIM:590055.0001C0162666 Mitochondrial encephalomyopathy;
NC_012920.1(MT-CYB):m.12318G>A4568MT-TL2Uncertain significancers1603223664RCV000851085; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1231812318M:g.12318G>A-
NC_012920.1(MT-CYB):m.12335T>C4568MT-TL2Likely pathogenicrs1603223668RCV000851086; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1233512335M:g.12335T>C-
NC_012920.1(MT-CYB):m.4417A>G4569MT-TMLikely benignrs1603219452RCV000850761; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M44174417M:g.4417A>G-
NC_012920.1(MT-CYB):m.4418T>C4569MT-TMBenignrs1556422856RCV000850762; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M44184418M:g.4418T>C-
NC_012920.1(MT-CYB):m.4429G>A4569MT-TMUncertain significancers1603219456RCV000850763; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M44294429M:g.4429G>A-
NC_012920.1(MT-CYB):m.4435A>G4569MT-TMBenignrs878930498RCV000850764; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M44354435M:g.4435A>G-
NC_012920.1(MT-CYB):m.4437C>T4569MT-TMLikely pathogenicrs1603219459RCV000850765; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M44374437M:g.4437C>T-
NC_012920.1(MT-CYB):m.4451T>G4569MT-TMUncertain significancers1603219461RCV000850766; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M44514451M:g.4451T>G-
NC_012920.1(MT-CYB):m.4452T>C4569MT-TMBenignrs377043134RCV000850767; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M44524452M:g.4452T>C-
NC_012920.1(MT-CYB):m.4454T>A4569MT-TMBenignrs11510098RCV000850769; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M44544454M:g.4454T>A-
NC_012920.1(MT-CYB):m.4454T>C4569MT-TMBenignrs11510098RCV000850768; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M44544454M:g.4454T>C-
NC_012920.1(MT-CYB):m.4455A>G4569MT-TMUncertain significancers878986264RCV000850770; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M44554455M:g.4455A>G-
NC_012920.1(MT-CYB):m.4456C>T4569MT-TMUncertain significancers1603219465RCV000850771; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M44564456M:g.4456C>T-
NC_012920.1(MT-CYB):m.4464G>A4569MT-TMBenignrs1603219466RCV000850772; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M44644464M:g.4464G>A-
NC_012920.1(MT-CYB):m.4466A>G4569MT-TMUncertain significancers1603219467RCV000850773; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M44664466M:g.4466A>G-
NC_012920.1(MT-CYB):m.5661A>G4570MT-TNUncertain significancers1603220076RCV000850824; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56615661M:g.5661A>G-
NC_012920.1(MT-CYB):m.5662C>T4570MT-TNLikely benignrs1603220078RCV000850825; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56625662M:g.5662C>T-
NC_012920.1(MT-CYB):m.5663C>T4570MT-TNBenignrs1553139251RCV000850826; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56635663M:g.5663C>T-
NC_012920.1(MT-CYB):m.5664A>G4570MT-TNBenignrs1603220079RCV000850827; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56645664M:g.5664A>G-
NC_012920.1(MT-CYB):m.5665A>G4570MT-TNBenignrs1603220080RCV000850828; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56655665M:g.5665A>G-
NC_012920.1(MT-CYB):m.5669G>A4570MT-TNUncertain significancers1603220083RCV000850829; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56695669M:g.5669G>A-
NC_012920.1(MT-CYB):m.5672T>C4570MT-TNUncertain significancers1603220085RCV000850830|RCV001090134; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M56725672M:g.5672T>C-
NC_012920.1(MT-CYB):m.5673T>C4570MT-TNBenignrs386828975RCV000850831; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56735673M:g.5673T>C-
NC_012920.1(MT-CYB):m.5686A>T4570MT-TNBenignrs1603220088RCV000850832; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56865686M:g.5686A>T-
NC_012920.1(MT-CYB):m.5693T>C4570MT-TNUncertain significancers1603220092RCV000850833; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M56935693M:g.5693T>C-
NC_012920.1(MT-CYB):m.5705A>G4570MT-TNLikely benignrs1556423024RCV000850834; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M57055705M:g.5705A>G-
NC_012920.1(MT-CYB):m.5708C>A4570MT-TNUncertain significancers1603220094RCV000850835; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M57085708M:g.5708C>A-
NC_012920.1(MT-CYB):m.5711A>G4570MT-TNBenignrs2854138RCV000850836; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M57115711M:g.5711A>G-
NC_012920.1(MT-CYB):m.5715A>G4570MT-TNBenignrs1603220096RCV000850837; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M57155715M:g.5715A>G-
m.5728T>C4570MT-TNPathogenicrs199476132RCV000010247|RCV000010248|RCV000850838; Y|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M57285728M:g.5728T>CClinGen:CA120585,OMIM:590010.0003C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
m.15965A>G4571MT-TPBenignrs199474700RCV000010184|RCV000851157; NMONDO:MONDO:0010796,MedGen:C1838867,OMIM:556500|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1596515965M:g.15965A>GClinGen:CA254833,OMIM:590075.0002C1838867 556500 Parkinson disease, mitochondrial;
m.15967G>A4571MT-TPPathogenicrs199474701RCV000010185|RCV000851158; NMedGen:C4016625|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1596715967M:g.15967G>AClinGen:CA120550,OMIM:590075.0003C4016625 MERFF syndrome;
NC_012920.1(MT-CYB):m.15968T>C4571MT-TPBenignrs1603225617RCV000851159; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1596815968M:g.15968T>C-
NC_012920.1(MT-CYB):m.15970T>C4571MT-TPBenignrs375213730RCV000851160; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1597015970M:g.15970T>C-
NC_012920.1(MT-CYB):m.15976T>C4571MT-TPUncertain significancers1603225620RCV000851161; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1597615976M:g.15976T>C-
NC_012920.1(MT-CYB):m.15977C>T4571MT-TPBenignrs1556424716RCV000851162|RCV003128419; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:CN517202M1597715977M:g.15977C>T-
NC_012920.1(MT-CYB):m.15978C>T4571MT-TPBenignrs201041059RCV000851163; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1597815978M:g.15978C>T-
NC_012920.1(MT-CYB):m.15983T>C4571MT-TPUncertain significancers1603225623RCV000851164; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1598315983M:g.15983T>C-
NC_012920.1(MT-CYB):m.15984T>C4571MT-TPUncertain significancers1603225624RCV000851165; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1598415984M:g.15984T>C-
NC_012920.1(MT-CYB):m.15992A>T4571MT-TPLikely benignrs1556424718RCV000851166; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1599215992M:g.15992A>T-
NC_012920.1(MT-CYB):m.15994A>G4571MT-TPUncertain significancers1603225627RCV000851167; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1599415994M:g.15994A>G-
NC_012920.1(MT-CYB):m.15995G>A4571MT-TPUncertain significancers1603225630RCV000851168; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1599515995M:g.15995G>A-
NC_012920.1(MT-CYB):m.16002T>C4571MT-TPPathogenic/Likely pathogenicrs1603225633RCV000851169|RCV002249545; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551M1600216002M:g.16002T>C-
NC_012920.1(MT-CYB):m.16003T>C4571MT-TPUncertain significancers1603225634RCV000851170; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1600316003M:g.16003T>C-
NC_012920.1(MT-CYB):m.16011A>G4571MT-TPLikely benignrs1603225635RCV000851171; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1601116011M:g.16011A>G-
NC_012920.1(MT-CYB):m.16013A>G4571MT-TPUncertain significancers1603225636RCV000851172; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1601316013M:g.16013A>G-
NC_012920.1(MT-CYB):m.16018_16032dup4571MT-TPUncertain significancers1603225639RCV000851174; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1601516016M:g.16015_16016insATTCTCTGTTCTTTC-
NC_012920.1(MT-CYB):m.16017T>C4571MT-TPBenignrs201864830RCV000851173; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1601716017M:g.16017T>C-
NC_012920.1(MT-CYB):m.16021C>T4571MT-TPUncertain significancers1603225641RCV000851175; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1602116021M:g.16021C>T-
m.4332G>A4572MT-TQPathogenicrs199476141RCV000010240; YMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43324332M:g.4332G>AClinGen:CA254844,OMIM:590030.0003C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1(MT-CYB):m.4335C>T4572MT-TQBenignrs878959563RCV000850735; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43354335M:g.4335C>T-
m.4336T>C4572MT-TQConflicting interpretations of pathogenicityrs41456348RCV000010239|RCV000224964|RCV000850736|RCV001288305; NMedGen:C4016609|MedGen:CN517202|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:CN169374M43364336M:g.4336T>CClinGen:CA340926,OMIM:590030.0002CN517202 not provided;
NC_012920.1(MT-CYB):m.4339G>A4572MT-TQUncertain significancers1603219415RCV000850737; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43394339M:g.4339G>A-
NC_012920.1(MT-CYB):m.4340A>G4572MT-TQBenignrs1603219416RCV000850738; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43404340M:g.4340A>G-
NC_012920.1(MT-CYB):m.4343A>G4572MT-TQBenignrs386828939RCV000850739; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43434343M:g.4343A>G-
NC_012920.1(MT-CYB):m.4350C>T4572MT-TQBenignrs1603219418RCV000850740; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43504350M:g.4350C>T-
NC_012920.1(MT-CYB):m.4353T>C4572MT-TQBenignrs1603219419RCV000850741; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43534353M:g.4353T>C-
NC_012920.1(MT-CYB):m.4360G>A4572MT-TQUncertain significancers1603219422RCV000850742; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43604360M:g.4360G>A-
NC_012920.1:m.4363T>C4572MT-TQBenignrs200009705RCV000223731|RCV000850743; NMedGen:CN169374|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43634363M:g.4363T>CClinGen:CA10581204CN169374 not specified;
NC_012920.1(MT-CYB):m.4370T>C4572MT-TQBenignrs1603219427RCV000850744|RCV000992387; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:CN517202M43704370M:g.4370T>C-
NC_012920.1(MT-CYB):m.4371T>C4572MT-TQBenignrs1603219428RCV000850745; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43714371M:g.4371T>C-
NC_012920.1(MT-CYB):m.4372C>T4572MT-TQLikely pathogenicrs1603219429RCV000850746; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43724372M:g.4372C>T-
NC_012920.1(MT-CYB):m.4373T>C4572MT-TQBenignrs1603219432RCV000850747; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43734373M:g.4373T>C-
NC_012920.1(MT-CYB):m.4375C>T4572MT-TQLikely benignrs1603219433RCV000850748; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43754375M:g.4375C>T-
NC_012920.1(MT-CYB):m.4381A>G4572MT-TQBenignrs1603219434RCV000850749; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43814381M:g.4381A>G-
NC_012920.1(MT-CYB):m.4384T>A4572MT-TQLikely benignrs1603219436RCV000850751; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43844384M:g.4384T>A-
NC_012920.1(MT-CYB):m.4384T>C4572MT-TQBenignrs1603219436RCV000850750; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43844384M:g.4384T>C-
NC_012920.1(MT-CYB):m.4385A>G4572MT-TQLikely benignrs386828941RCV000850753; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43854385M:g.4385A>G-
NC_012920.1(MT-CYB):m.4385A>T4572MT-TQBenignrs386828941RCV000850752; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43854385M:g.4385A>T-
NC_012920.1(MT-CYB):m.4386T>C4572MT-TQBenignrs1569483940RCV000850754; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43864386M:g.4386T>C-
NC_012920.1(MT-CYB):m.4387C>T4572MT-TQLikely benignrs1556422854RCV000850755; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43874387M:g.4387C>T-
NC_012920.1(MT-TQ):m.4388A>G4572MT-TQConflicting interpretations of pathogenicityrs375986475RCV000224569|RCV000850756; NMedGen:CN517202|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43884388M:g.4388A>GClinGen:CA10581310C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_012920.1(MT-CYB):m.4394C>A4572MT-TQBenignrs1603219441RCV000850757; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43944394M:g.4394C>A-
NC_012920.1(MT-CYB):m.4395A>G4572MT-TQBenignrs1603219443RCV000850758; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43954395M:g.4395A>G-
NC_012920.1(MT-CYB):m.4399T>C4572MT-TQUncertain significancers1603219445RCV000850759; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M43994399M:g.4399T>C-
NC_012920.1(MT-CYB):m.4400A>G4572MT-TQUncertain significancers1603219449RCV000850760; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M44004400M:g.4400A>G-
NC_012920.1(MT-CYB):m.10405T>C4573MT-TRUncertain significancers1603222825RCV000850991; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1040510405M:g.10405T>C-
NC_012920.1(MT-CYB):m.10406G>A4573MT-TRPathogenic/Likely pathogenicrs1603222826RCV000850992|RCV002249544; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M1040610406M:g.10406G>A-
NC_012920.1(MT-CYB):m.10408T>C4573MT-TRLikely pathogenicrs1603222827RCV000850993; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1040810408M:g.10408T>C-
NC_012920.1(MT-CYB):m.10410T>A4573MT-TRLikely benignrs200478835RCV000850995; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1041010410M:g.10410T>A-
NC_012920.1(MT-CYB):m.10410T>C4573MT-TRBenignrs200478835RCV000850994; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1041010410M:g.10410T>C-
NC_012920.1(MT-CYB):m.10411A>G4573MT-TRBenignrs1603222828RCV000850996; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1041110411M:g.10411A>G-
NC_012920.1(MT-CYB):m.10420A>G4573MT-TRBenignrs1603222829RCV000850997; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1042010420M:g.10420A>G-
NC_012920.1(MT-CYB):m.10427G>A4573MT-TRBenignrs1556423809RCV000850998; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1042710427M:g.10427G>A-
NC_012920.1(MT-CYB):m.10440T>C4573MT-TRBenignrs1603222833RCV000850999; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1044010440M:g.10440T>C-
NC_012920.1(MT-CYB):m.10446A>G4573MT-TRLikely benignrs1603222835RCV000851000; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1044610446M:g.10446A>G-
NC_012920.1(MT-CYB):m.10448T>C4573MT-TRLikely benignrs1603222836RCV000851001; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1044810448M:g.10448T>C-
NC_012920.1(MT-CYB):m.10454T>C4573MT-TRBenignrs878874133RCV000851002; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1045410454M:g.10454T>C-
NC_012920.1(MT-CYB):m.10455A>G4573MT-TRUncertain significancers1603222840RCV000851003|RCV001796796; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M1045510455M:g.10455A>G-
NC_012920.1(MT-CYB):m.10456A>G4573MT-TRLikely benignrs1603222842RCV000851004; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1045610456M:g.10456A>G-
NC_012920.1(MT-CYB):m.10457T>C4573MT-TRUncertain significancers1603222845RCV000851005; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1045710457M:g.10457T>C-
NC_012920.1(MT-CYB):m.10460T>C4573MT-TRLikely pathogenicrs1603222848RCV000851006; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1046010460M:g.10460T>C-
NC_012920.1(MT-CYB):m.10462T>C4573MT-TRUncertain significancers1603222850RCV000851007; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1046210462M:g.10462T>C-
NC_012920.1(MT-CYB):m.10463T>C4573MT-TRBenignrs28358279RCV000851008; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1046310463M:g.10463T>C-
NC_012920.1(MT-CYB):m.7460A>G4574MT-TS1Likely benignrs1603220969RCV000850886; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M74607460M:g.7460A>G-
NC_012920.1:m.7471dup4574MT-TS1Pathogenicrs111033319RCV000010178|RCV000022905|RCV000035051|RCV000850889|RCV000844678|RCV001543566|RCV002247421; YMedGen:C4016626|MedGen:C3151975|MONDO:MONDO:0010779,MedGen:C3151897,OMIM:500008, Orphanet:90641|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:CN826980, Orphanet:96210|MedGen:CN517202|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110,OrM74657466M:g.7465_7466insCClinGen:CA214937,OMIM:590080.0003C3151897 500008 Deafness, nonsyndromic sensorineural, mitochondrial;
m.7471delC4574MT-TS1Conflicting interpretations of pathogenicityrs111033319RCV000035052|RCV000850891; NMedGen:CN169374|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M74667466M:g.7466_7466delClinGen:CA131012CN169374 not specified;
m.7468C>T4574MT-TS1Benignrs111033173RCV000035049|RCV000850887|RCV000992384; NMedGen:CN169374|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:CN517202M74687468M:g.7468C>TClinGen:CA131010CN169374 not specified;
NC_012920.1(MT-CYB):m.7469C>T4574MT-TS1Benignrs1603220974RCV000850888; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M74697469M:g.7469C>T-
m.7471C>T4574MT-TS1Benign/Likely benignrs397515726RCV000035050|RCV000850890; NMedGen:CN169374|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M74717471M:g.7471C>TClinGen:CA131011CN169374 not specified;
NC_012920.1(MT-CYB):m.7471C>A4574MT-TS1Likely benignrs397515726RCV000850892; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M74717471M:g.7471C>A-
NC_012920.1:m.7472A>T4574MT-TS1Benign/Likely benignrs1556423293RCV000608876|RCV000850893; NMedGen:CN169374|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M74727472M:g.7472A>TClinGen:CA658799931CN169374 not specified;
m.7476C>T4574MT-TS1Benignrs201950015RCV000035053|RCV000850894|RCV002221482; NMedGen:CN169374|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M74767476M:g.7476C>TClinGen:CA131013CN169374 not specified;
NC_012920.1(MT-CYB):m.7478G>A4574MT-TS1Uncertain significancers1603220977RCV000850895; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M74787478M:g.7478G>A-
NC_012920.1(MT-CYB):m.7479G>A4574MT-TS1Uncertain significancers1603220980RCV000850896; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M74797479M:g.7479G>A-
NC_012920.1(MT-CYB):m.7487C>T4574MT-TS1Uncertain significancers1603220981RCV000850897; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M74877487M:g.7487C>T-
NC_012920.1(MT-CYB):m.7490A>G4574MT-TS1Benignrs1603220984RCV000850898; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M74907490M:g.7490A>G-
m.7493C>T4574MT-TS1Benignrs397515728RCV000035054|RCV000850899; NMedGen:CN169374|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M74937493M:g.7493C>TClinGen:CA131014CN169374 not specified;
m.7497G>A4574MT-TS1Pathogenicrs387906419RCV000010182|RCV000850901|RCV002247288; YMedGen:C4016627|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905M74977497M:g.7497G>AClinGen:CA120548,OMIM:590080.0008C4016627 Exercise intolerance, muscle pain, and lactic acidemia;
m.7498G>A4574MT-TS1Benignrs111033324RCV000035055|RCV000850902; NMedGen:CN169374|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M74987498M:g.7498G>AClinGen:CA131015CN169374 not specified;
NC_012920.1(MT-CYB):m.7499C>A4574MT-TS1Uncertain significancers1603220989RCV000850903; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M74997499M:g.7499C>A-
NC_012920.1(MT-CYB):m.7501T>C4574MT-TS1Benignrs1556423303RCV000850904; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75017501M:g.7501T>C-
NC_012920.1:m.7502C>T4574MT-TS1Conflicting interpretations of pathogenicityrs876657868RCV000218791|RCV000850905; NMedGen:CN169374|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M75027502M:g.7502C>TClinGen:CA10577185CN169374 not specified;
m.7511T>C4574MT-TS1Pathogenicrs199474821RCV000010180|RCV000850906|RCV002247287; YMONDO:MONDO:0010779,MedGen:C3151897,OMIM:500008, Orphanet:90641|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905M75117511M:g.7511T>CClinGen:CA340922,OMIM:590080.0005C3151897 500008 Deafness, nonsyndromic sensorineural, mitochondrial;
m.7512T>C4574MT-TS1Pathogenic/Likely pathogenicrs199474817RCV000010175|RCV000010174|RCV000850907|RCV002247286; NMedGen:C4016626|MedGen:C3151970|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905M75127512M:g.7512T>CClinGen:CA120546,OMIM:590080.0001C3151970 MERRF/MELAS overlap syndrome;
m.12207G>A4575MT-TS2Pathogenicrs118203889RCV000010173|RCV002247285; NMedGen:C3151970|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1220712207M:g.12207G>AClinGen:CA120545,OMIM:590085.0002C3151970 MERRF/MELAS overlap syndrome;
NC_012920.1(MT-CYB):m.12213G>A4575MT-TS2Uncertain significancers1603223616RCV000851043; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1221312213M:g.12213G>A-
NC_012920.1(MT-CYB):m.12215T>C4575MT-TS2Benignrs1603223617RCV000851044; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1221512215M:g.12215T>C-
NC_012920.1(MT-CYB):m.12216C>T4575MT-TS2Benignrs1603223618RCV000851045; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1221612216M:g.12216C>T-
NC_012920.1(MT-CYB):m.12217A>G4575MT-TS2Conflicting interpretations of pathogenicityrs1556424082RCV000851046|RCV001288304; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:CN517202M1221712217M:g.12217A>G-
NC_012920.1(MT-CYB):m.12218C>A4575MT-TS2Uncertain significancers1603223621RCV000851047; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1221812218M:g.12218C>A-
NC_012920.1(MT-CYB):m.12223A>G4575MT-TS2Benignrs1603223624RCV000851048; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1222312223M:g.12223A>G-
NC_012920.1(MT-CYB):m.12230A>G4575MT-TS2Uncertain significancers1603223625RCV000851049; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1223012230M:g.12230A>G-
NC_012920.1(MT-CYB):m.12231C>T4575MT-TS2Likely benignrs1603223627RCV000851050; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1223112231M:g.12231C>T-
NC_012920.1(MT-CYB):m.12234A>G4575MT-TS2Benignrs1603223628RCV000851051; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1223412234M:g.12234A>G-
NC_012920.1(MT-CYB):m.12235T>C4575MT-TS2Benignrs1556424083RCV000851052; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1223512235M:g.12235T>C-
NC_012920.1(MT-TS2):m.12236G>A4575MT-TS2Conflicting interpretations of pathogenicityrs28359170RCV000506174|RCV000992385|RCV000851053; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1223612236M:g.12236G>AClinGen:CA337099418C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_012920.1(MT-CYB):m.12241dup4575MT-TS2Uncertain significancers1603223633RCV000851057; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1223612237M:g.12236_12237insC-
NC_012920.1(MT-CYB):m.12237C>T4575MT-TS2Benignrs1603223632RCV000851054; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1223712237M:g.12237C>T-
NC_012920.1(MT-CYB):m.12241del4575MT-TS2Conflicting interpretations of pathogenicityrs1603223633RCV000851056|RCV001250990; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|M1223712237M:g.12237_12237del-
NC_012920.1(MT-CYB):m.12239C>T4575MT-TS2Benignrs376062400RCV000224786|RCV000851055|RCV002221520; NMedGen:CN517202|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M1223912239m.12239C>TClinGen:CA10581287CN517202 not provided;
NC_012920.1(MT-CYB):m.12245T>C4575MT-TS2Benignrs1603223634RCV000851058; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1224512245M:g.12245T>C-
NC_012920.1(MT-CYB):m.12246C>T4575MT-TS2Benignrs28508189RCV000851059; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1224612246M:g.12246C>T-
NC_012920.1(MT-CYB):m.12247T>C4575MT-TS2Uncertain significancers1603223637RCV000851060; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1224712247M:g.12247T>C-
NC_012920.1(MT-CYB):m.12248A>G4575MT-TS2Benignrs202114991RCV000851061; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1224812248M:g.12248A>G-
NC_012920.1(MT-CYB):m.12250C>T4575MT-TS2Uncertain significancers1603223639RCV000851062; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1225012250M:g.12250C>T-
NC_012920.1(MT-CYB):m.12255T>C4575MT-TS2Uncertain significancers1603223640RCV000851063; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1225512255M:g.12255T>C-
NC_012920.1(MT-CYB):m.12258C>T4575MT-TS2Pathogenic/Likely pathogenicrs118203888RCV000851064; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1225812258M:g.12258C>T-
NC_012920.1(MT-CYB):m.12264C>T4575MT-TS2Pathogenic/Likely pathogenicrs1603223642RCV000851065; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1226412264M:g.12264C>T-
NC_012920.1(MT-CYB):m.12265A>G4575MT-TS2Likely benignrs1603223643RCV000851066; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1226512265M:g.12265A>G-
NC_012920.1(MT-CYB):m.15888G>A4576MT-TTUncertain significancers1603225568RCV000851104; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1588815888M:g.15888G>A-
NC_012920.1(MT-CYB):m.15889T>C4576MT-TTBenignrs199833246RCV000851105; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1588915889M:g.15889T>C-
NC_012920.1(MT-CYB):m.15890C>T4576MT-TTUncertain significancers527236196RCV000851106; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1589015890M:g.15890C>T-
NC_012920.1(MT-CYB):m.15891C>T4576MT-TTBenignrs1556424681RCV000851107; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1589115891M:g.15891C>T-
NC_012920.1(MT-CYB):m.15892T>C4576MT-TTBenignrs1556424683RCV000851108; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1589215892M:g.15892T>C-
NC_012920.1(MT-CYB):m.15893T>C4576MT-TTLikely benignrs1603225570RCV000851109; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1589315893M:g.15893T>C-
NC_012920.1(MT-CYB):m.15894G>A4576MT-TTBenignrs1569484752RCV000851110; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1589415894M:g.15894G>A-
NC_012920.1(MT-CYB):m.15895T>C4576MT-TTLikely benignrs1603225571RCV000851111; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1589515895M:g.15895T>C-
NC_012920.1(MT-CYB):m.15897G>A4576MT-TTUncertain significancers1603225575RCV000851112; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1589715897M:g.15897G>A-
NC_012920.1(MT-CYB):m.15900T>C4576MT-TTBenignrs878927456RCV000851113; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1590015900M:g.15900T>C-
NC_012920.1(MT-CYB):m.15902A>G4576MT-TTBenignrs1556424685RCV000851114; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1590215902M:g.15902A>G-
NC_012920.1(MT-CYB):m.15903A>G4576MT-TTBenignrs1603225580RCV000851115; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1590315903M:g.15903A>G-
NC_012920.1(MT-CYB):m.15904C>T4576MT-TTBenignrs35788393RCV000851116; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1590415904M:g.15904C>T-
NC_012920.1(MT-CYB):m.15905T>C4576MT-TTBenignrs879126276RCV000851117; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1590515905M:g.15905T>C-
NC_012920.1(MT-CYB):m.15907A>G4576MT-TTBenignrs41383248RCV000851118; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1590715907M:g.15907A>G-
NC_012920.1(MT-CYB):m.15908T>C4576MT-TTBenignrs386829266RCV000851119; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1590815908M:g.15908T>C-
NC_012920.1(MT-CYB):m.15909A>G4576MT-TTLikely benignrs1556424690RCV000851120|RCV001249346; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:CN517202M1590915909M:g.15909A>G-
NC_012920.1(MT-CYB):m.15909A>T4576MT-TTUncertain significancers1556424690RCV000851121; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1590915909M:g.15909A>T-
NC_012920.1(MT-CYB):m.15911A>G4576MT-TTLikely benignrs1603225583RCV000851122; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1591115911M:g.15911A>G-
NC_012920.1(MT-CYB):m.15913C>T4576MT-TTBenignrs1603225584RCV000851123; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1591315913M:g.15913C>T-
NC_012920.1(MT-CYB):m.15914A>G4576MT-TTBenignrs1603225587RCV000851124; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1591415914M:g.15914A>G-
NC_012920.1(MT-CYB):m.15915G>A4576MT-TTPathogenicrs1603225588RCV000851125; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1591515915M:g.15915G>A-
NC_012920.1(MT-CYB):m.15916T>C4576MT-TTBenignrs1603225591RCV000851126; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1591615916M:g.15916T>C-
NC_012920.1(MT-CYB):m.15921T>C4576MT-TTUncertain significancers1603225593RCV000851127; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1592115921M:g.15921T>C-
NC_012920.1(MT-CYB):m.15924A>G4576MT-TTBenignrs193303001RCV000851128; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1592415924M:g.15924A>G-
NC_012920.1(MT-CYB):m.15925C>T4576MT-TTLikely benignrs1603225595RCV000851129; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1592515925M:g.15925C>T-
NC_012920.1(MT-CYB):m.15926C>T4576MT-TTBenignrs1603225597RCV000851130; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1592615926M:g.15926C>T-
NC_012920.1:m.15927G>A4576MT-TTBenignrs193303002RCV000133441|RCV000851131; NMONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1592715927m.15927G>AClinGen:CA270624C0346153 114480 Familial cancer of breast;
NC_012920.1:m.15928G>A4576MT-TTBenignrs527236198RCV000133442|RCV000851132; NHuman Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1592815928M:g.15928G>AClinGen:CA170532C0919267 167000 Neoplasm of ovary;
NC_012920.1(MT-CYB):m.15929A>G4576MT-TTBenignrs878866272RCV000851133; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1592915929M:g.15929A>G-
NC_012920.1(MT-CYB):m.15930G>A4576MT-TTBenignrs41441949RCV000851134; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1593015930M:g.15930G>A-
NC_012920.1(MT-CYB):m.15932T>C4576MT-TTBenignrs527236199RCV000851135; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1593215932M:g.15932T>C-
NC_012920.1(MT-CYB):m.15937del4576MT-TTLikely benignrs1603225604RCV000851139; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1593415934M:g.15934_15934del-
NC_012920.1(MT-CYB):m.15935A>G4576MT-TTBenignrs1556424699RCV000851136; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1593515935M:g.15935A>G-
NC_012920.1(MT-CYB):m.15936A>G4576MT-TTLikely benignrs1556424701RCV000851138; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1593615936M:g.15936A>G-
NC_012920.1(MT-CYB):m.15936A>T4576MT-TTBenignrs1556424701RCV000851137; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1593615936M:g.15936A>T-
NC_012920.1(MT-CYB):m.15937A>G4576MT-TTBenignrs1603225605RCV000851141; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1593715937M:g.15937A>G-
NC_012920.1(MT-CYB):m.15937A>T4576MT-TTLikely benignrs1603225605RCV000851140; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1593715937M:g.15937A>T-
NC_012920.1(MT-CYB):m.15938C>T4576MT-TTBenignrs200572753RCV000851142; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1593815938M:g.15938C>T-
NC_012920.1(MT-CYB):m.15939C>T4576MT-TTBenignrs878981265RCV000851143; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1593915939M:g.15939C>T-
NC_012920.1(MT-CYB):m.15944dup4576MT-TTBenignrs1603225607RCV000851149; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1593915940M:g.15939_15940insT-
NC_012920.1(MT-CYB):m.15940T>C4576MT-TTBenignrs879197567RCV000851144; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1594015940M:g.15940T>C-
NC_012920.1(MT-CYB):m.15944del4576MT-TTBenignrs1603225607RCV000851145; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1594015940M:g.15940_15940del-
NC_012920.1(MT-CYB):m.15941T>C4576MT-TTBenignrs193303003RCV000851146; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1594115941M:g.15941T>C-
NC_012920.1(MT-CYB):m.15942T>C4576MT-TTBenignrs28535186RCV000851147; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1594215942M:g.15942T>C-
NC_012920.1:m.15943T>C4576MT-TTBenignrs527236200RCV000133444|RCV000851148; NHuman Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1594315943M:g.15943T>CClinGen:CA170534C0919267 167000 Neoplasm of ovary;
NC_012920.1(MT-CYB):m.15944T>C4576MT-TTLikely benignrs1603225608RCV000851150; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1594415944M:g.15944T>C-
NC_012920.1(MT-CYB):m.15946C>T4576MT-TTBenignrs202014122RCV000851151; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1594615946M:g.15946C>T-
NC_012920.1(MT-CYB):m.15947A>G4576MT-TTBenignrs1556424708RCV000851152; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1594715947M:g.15947A>G-
NC_012920.1(MT-CYB):m.15949G>A4576MT-TTBenignrs1603225611RCV000851153; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1594915949M:g.15949G>A-
m.15950G>A4576MT-TTUncertain significancers118203890RCV000010169|RCV000851154; NMONDO:MONDO:0010796,MedGen:C1838867,OMIM:556500|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1595015950M:g.15950G>AClinGen:CA254832,OMIM:590090.0001C1838867 556500 Parkinson disease, mitochondrial;
NC_012920.1(MT-CYB):m.15951A>G4576MT-TTBenignrs199993959RCV000851155; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1595115951M:g.15951A>G-
NC_012920.1(MT-CYB):m.15952C>T4576MT-TTLikely benignrs1603225613RCV000851156; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M1595215952M:g.15952C>T-
m.1606G>A4577MT-TVUncertain significancers199476143RCV000010156|RCV000850660|RCV002260583; YMedGen:C4016634|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M16061606M:g.1606G>AClinGen:CA120536,OMIM:590105.0001C4016634 Ataxia, progressive seizures, mental deterioration, and hearing loss;
NC_012920.1(MT-CYB):m.1607T>C4577MT-TVBenignrs1603218581RCV000850661; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16071607M:g.1607T>C-
NC_012920.1(MT-CYB):m.1608G>A4577MT-TVUncertain significancers1603218582RCV000850662; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16081608M:g.1608G>A-
NC_012920.1(MT-ND1):m.1616A>G4577MT-TVUncertain significance-1RCV001785374; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M161616161616-
NC_012920.1(MT-CYB):m.1617C>T4577MT-TVLikely benignrs1603218583RCV000850663; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16171617M:g.1617C>T-
NC_012920.1(MT-CYB):m.1618A>G4577MT-TVLikely benignrs1603218584RCV000850664; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16181618M:g.1618A>G-
NC_012920.1(MT-CYB):m.1619C>T4577MT-TVConflicting interpretations of pathogenicityrs1569483811RCV000756364|RCV000850665; NMedGen:CN517202|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16191619m.1619C>T-
NC_012920.1(MT-CYB):m.1619_1620insT4577MT-TVUncertain significancers1603218585RCV000850666; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16191620M:g.1619_1620insT-
m.1624C>T4577MT-TVPathogenic/Likely pathogenicrs199476144RCV000010157|RCV000010158|RCV000850667; NHuman Phenotype Ontology:HP:0003811,Human Phenotype Ontology:HP:0003820,Human Phenotype Ontology:HP:0003824,MedGen:C0410916|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16241624M:g.1624C>TClinGen:CA120537,OMIM:590105.0002C0023264 256000 Leigh syndrome;
NC_012920.1(MT-CYB):m.1628C>T4577MT-TVLikely benignrs1603218586RCV000850668; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16281628M:g.1628C>T-
NC_012920.1(MT-CYB):m.1629A>G4577MT-TVUncertain significancers1603218587RCV000850669; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16291629M:g.1629A>G-
NC_012920.1(MT-CYB):m.1630A>G4577MT-TVPathogenic/Likely pathogenicrs1603218588RCV000850670; YMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16301630M:g.1630A>G-
NC_012920.1(MT-CYB):m.1631C>T4577MT-TVUncertain significancers1603218590RCV000850671; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16311631M:g.1631C>T-
NC_012920.1(MT-CYB):m.1636A>G4577MT-TVUncertain significancers1603218591RCV000850672; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16361636M:g.1636A>G-
NC_012920.1(MT-CYB):m.1638T>C4577MT-TVUncertain significancers1603218592RCV000850673; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16381638M:g.1638T>C-
NC_012920.1(MT-CYB):m.1640A>G4577MT-TVLikely benignrs1603218594RCV000850674; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16401640M:g.1640A>G-
NC_012920.1(MT-CYB):m.1641G>A4577MT-TVUncertain significancers28416113RCV000850675; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16411641M:g.1641G>A-
NC_012920.1(MT-CYB):m.1643A>G4577MT-TVUncertain significancers1603218595RCV000850676|RCV000844998; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:CN517202M16431643M:g.1643A>G-
NC_012920.1(MT-CYB):m.1644G>A4577MT-TVLikely pathogenicrs587776441RCV000850677|RCV001796793; YMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M16441644M:g.1644G>A-
NC_012920.1(MT-CYB):m.1646T>C4577MT-TVBenignrs1603218598RCV000850678; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16461646M:g.1646T>C-
NC_012920.1(MT-CYB):m.1654T>C4577MT-TVUncertain significancers1603218602RCV000850679; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16541654M:g.1654T>C-
NC_012920.1(MT-CYB):m.1656del4577MT-TVLikely benignrs1603218604RCV000850680; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16551655M:g.1655_1655del-
NC_012920.1(MT-CYB):m.1657C>T4577MT-TVBenignrs1603218606RCV000850681; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16571657M:g.1657C>T-
NC_012920.1(MT-CYB):m.1658T>C4577MT-TVUncertain significancers1603218607RCV000850682; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16581658M:g.1658T>C-
NC_012920.1(MT-CYB):m.1659T>C4577MT-TVPathogenic/Likely pathogenicrs1603218609RCV000850683; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16591659M:g.1659T>C-
NC_012920.1(MT-CYB):m.1664G>A4577MT-TVBenignrs200807305RCV000850684; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16641664M:g.1664G>A-
NC_012920.1(MT-CYB):m.1670A>T4577MT-TVBenignrs1603218611RCV000850685; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M16701670M:g.1670A>T-
NC_012920.1(MT-CYB):m.5514A>G4578MT-TWBenignrs1603219997RCV000850774; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55145514M:g.5514A>G-
NC_012920.1(MT-CYB):m.5515A>G4578MT-TWBenignrs1603220000RCV000850775; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55155515M:g.5515A>G-
NC_012920.1(MT-CYB):m.5516A>G4578MT-TWLikely benignrs1603220001RCV000850776; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55165516M:g.5516A>G-
m.5521G>A4578MT-TWLikely pathogenicrs199474673RCV000010166|RCV000850777|RCV002291209; YHuman Phenotype Ontology:HP:0003737,Human Phenotype Ontology:HP:0008960,MONDO:MONDO:0009637,MedGen:C0162670, Orphanet:206966|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M55215521M:g.5521G>AClinGen:CA254831,OMIM:590095.0003C0162670 251900 Mitochondrial myopathy;
NC_012920.1(MT-CYB):m.5524T>C4578MT-TWUncertain significancers1603220004RCV000850778; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55245524M:g.5524T>C-
NC_012920.1(MT-CYB):m.5527A>G4578MT-TWBenignrs1603220005RCV000850779; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55275527M:g.5527A>G-
NC_012920.1(MT-CYB):m.5528T>C4578MT-TWBenignrs1556423004RCV000850780; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55285528M:g.5528T>C-
NC_012920.1(MT-CYB):m.5530C>T4578MT-TWBenignrs1603220009RCV000850781; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55305530M:g.5530C>T-
m.5532G>A4578MT-TWPathogenicrs199474674RCV000010167|RCV002247284; NMedGen:C4016629|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55325532M:g.5532G>AClinGen:CA120542,OMIM:590095.0004C4016629 Neurogastrointestinal syndrome, mitochondrial;
NC_012920.1(MT-CYB):m.5536_5537insT4578MT-TWPathogenicrs1603220010RCV000850782; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55365537M:g.5536_5537insT-
NC_012920.1(MT-CYB):m.5538G>A4578MT-TWUncertain significancers1603220012RCV000850783|RCV001796794; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M55385538M:g.5538G>A-
NC_012920.1(MT-CYB):m.5539A>G4578MT-TWBenignrs1603220013RCV000850784; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55395539M:g.5539A>G-
NC_012920.1(MT-CYB):m.5539A>T4578MT-TWLikely benignrs1603220013RCV000850785; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55395539M:g.5539A>T-
NC_012920.1(MT-CYB):m.5540G>A4578MT-TWPathogenicrs1603220014RCV000850786; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55405540M:g.5540G>A-
NC_012920.1(MT-CYB):m.5542C>T4578MT-TWUncertain significancers1603220015RCV000850787; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55425542M:g.5542C>T-
NC_012920.1(MT-CYB):m.5543T>C4578MT-TWPathogenicrs1603220016RCV000850788; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55435543M:g.5543T>C-
NC_012920.1(MT-CYB):m.5544T>C4578MT-TWUncertain significancers1603220018RCV000850789; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55445544M:g.5544T>C-
NC_012920.1(MT-CYB):m.5550C>T4578MT-TWUncertain significancers1603220019RCV000850790; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55505550M:g.5550C>T-
NC_012920.1(MT-CYB):m.5553T>C4578MT-TWBenign/Likely benignrs878853053RCV000224132|RCV000850792; NMedGen:CN517202|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55535553m.5553T>CClinGen:CA10581333CN517202 not provided;
NC_012920.1(MT-CYB):m.5553T>G4578MT-TWLikely benignrs878853053RCV000850791; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55535553M:g.5553T>G-
NC_012920.1(MT-CYB):m.5554C>A4578MT-TWBenignrs1603220020RCV000850793; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55545554M:g.5554C>A-
NC_012920.1(MT-CYB):m.5557T>C4578MT-TWBenignrs1603220022RCV000850794; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55575557M:g.5557T>C-
NC_012920.1(MT-CYB):m.5558A>G4578MT-TWUncertain significancers370471013RCV000850795|RCV001796795; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M55585558M:g.5558A>G-
NC_012920.1:m.5559A>G4578MT-TWUncertain significancers1556423008RCV000144003|RCV000850796; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55595559M:g.5559A>GClinGen:CA345913C0023264 256000 Leigh syndrome;
NC_012920.1(MT-CYB):m.5560G>A4578MT-TWUncertain significancers1603220026RCV000850797; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55605560M:g.5560G>A-
NC_012920.1:m.5561T>C4578MT-TWLikely benignrs1556423009RCV000509505|RCV000850798; NMedGen:CN517202|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55615561M:g.5561T>CClinGen:CA658653720CN517202 not provided;
NC_012920.1(MT-CYB):m.5563G>A4578MT-TWBenignrs1603220027RCV000850799; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55635563M:g.5563G>A-
NC_012920.1(MT-CYB):m.5566A>G4578MT-TWLikely benignrs1603220029RCV000850800; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55665566M:g.5566A>G-
NC_012920.1(MT-CYB):m.5567T>C4578MT-TWBenignrs1603220030RCV000850801; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55675567M:g.5567T>C-
NC_012920.1(MT-CYB):m.5568A>G4578MT-TWBenignrs200719361RCV000850802; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55685568M:g.5568A>G-
NC_012920.1(MT-CYB):m.5573A>G4578MT-TWUncertain significancers1603220033RCV000850803; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M55735573M:g.5573A>G-
NC_012920.1(MT-CYB):m.5575T>C4578MT-TWUncertain significancers1603220034RCV000850804|RCV001175285; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:CN517202M55755575M:g.5575T>C-
NC_012920.1(MT-CYB):m.5836A>G4579MT-TYBenignrs386828979RCV000850867; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58365836M:g.5836A>G-
NC_012920.1(MT-CYB):m.5837G>A4579MT-TYUncertain significancers1603220147RCV000850868; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58375837M:g.5837G>A-
NC_012920.1(MT-CYB):m.5839C>T4579MT-TYBenignrs1603220148RCV000850869; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58395839M:g.5839C>T-
NC_012920.1(MT-CYB):m.5840C>A4579MT-TYUncertain significancers1603220149RCV000850870; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58405840M:g.5840C>A-
NC_012920.1(MT-CYB):m.5840C>T4579MT-TYLikely benignrs1603220149RCV000850871; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58405840M:g.5840C>T-
NC_012920.1(MT-CYB):m.5841T>C4579MT-TYUncertain significancers1603220150RCV000850872; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58415841M:g.5841T>C-
m.5843A>G4579MT-TYBenignrs118203894RCV000010162|RCV000850873; NMedGen:C4016633|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58435843M:g.5843A>GClinGen:CA120539,OMIM:590100.0004C4016633 Focal segmental glomerulosclerosis and dilated cardiomyopathy;
NC_012920.1(MT-CYB):m.5846C>T4579MT-TYBenignrs1603220152RCV000850874; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58465846M:g.5846C>T-
NC_012920.1(MT-CYB):m.5852T>C4579MT-TYUncertain significancers1603220153RCV000850875; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58525852M:g.5852T>C-
NC_012920.1(MT-CYB):m.5855A>G4579MT-TYLikely benignrs1603220155RCV000850876; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58555855M:g.5855A>G-
NC_012920.1(MT-CYB):m.5858T>C4579MT-TYUncertain significancers1603220157RCV000850877; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58585858M:g.5858T>C-
NC_012920.1(MT-CYB):m.5864G>A4579MT-TYUncertain significancers1603220158RCV000850878; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58645864M:g.5864G>A-
NC_012920.1(MT-CYB):m.5865T>C4579MT-TYUncertain significancers1603220159RCV000850879; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58655865M:g.5865T>C-
NC_012920.1(MT-CYB):m.5867C>T4579MT-TYLikely benignrs1603220160RCV000850880; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58675867M:g.5867C>T-
NC_012920.1(MT-CYB):m.5875C>T4579MT-TYLikely benignrs1603220162RCV000850881; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58755875M:g.5875C>T-
NC_012920.1(MT-CYB):m.5876A>G4579MT-TYLikely benignrs1603220163RCV000850882; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58765876M:g.5876A>G-
NC_012920.1(MT-CYB):m.5885T>C4579MT-TYUncertain significancers1603220164RCV000850883|RCV001198827; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|M58855885M:g.5885T>C-
NC_012920.1(MT-CYB):m.5889A>G4579MT-TYUncertain significancers1603220167RCV000850884; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M58895889M:g.5889A>G-
NM_005006.7(NDUFS1):c.758T>G (p.Val253Gly)4719NDUFS1Likely pathogenicrs786205666RCV000170569; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:55022070097302070097302:g.207009730A>CClinGen:CA274773C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NM_002693.3(POLG):c.895A>G (p.Met299Val)5428POLGUncertain significance-1RCV001774254|RCV001868571|RCV002290748; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:55015898723028987230289872302-
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000198888 MSeqDR Search EnsemblMT-ND1137mitochondrially encoded NADH dehydrogenase 1 [Source:HGNC Symbol;Acc:7455]00163
ENSG00000198886 MSeqDR Search EnsemblMT-ND4111mitochondrially encoded NADH dehydrogenase 4 [Source:HGNC Symbol;Acc:7459]00163
ENSG00000198786 MSeqDR Search EnsemblMT-ND51511mitochondrially encoded NADH dehydrogenase 5 [Source:HGNC Symbol;Acc:7461]00163
ENSG00000198695 MSeqDR Search EnsemblMT-ND6112mitochondrially encoded NADH dehydrogenase 6 [Source:HGNC Symbol;Acc:7462]00163
ENSG00000210140 MSeqDR Search EnsemblMT-TC1129mitochondrially encoded tRNA cysteine [Source:HGNC Symbol;Acc:7477]00163
ENSG00000210049 MSeqDR Search EnsemblMT-TF1131mitochondrially encoded tRNA phenylalanine [Source:HGNC Symbol;Acc:7481]00163
ENSG00000210176 MSeqDR Search EnsemblMT-TH1034mitochondrially encoded tRNA histidine [Source:HGNC Symbol;Acc:7487]00163
ENSG00000210156 MSeqDR Search EnsemblMT-TK1027mitochondrially encoded tRNA lysine [Source:HGNC Symbol;Acc:7489]00163
ENSG00000209082 MSeqDR Search EnsemblMT-TL11428mitochondrially encoded tRNA leucine 1 (UUA/G) [Source:HGNC Symbol;Acc:7490]00163
ENSG00000210107 MSeqDR Search EnsemblMT-TQ1127mitochondrially encoded tRNA glutamine [Source:HGNC Symbol;Acc:7495]00163
ENSG00000210151 MSeqDR Search EnsemblMT-TS11021mitochondrially encoded tRNA serine 1 (UCN) [Source:HGNC Symbol;Acc:7497]00163
ENSG00000210184 MSeqDR Search EnsemblMT-TS21025mitochondrially encoded tRNA serine 2 (AGU/C) [Source:HGNC Symbol;Acc:7498]00163

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