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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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

Disease Browser
Parent Node: Brain Diseases, Metabolic, Inborn (D020739)
Parent Node: Cerebral Small Vessel Diseases (D059345)
Parent Node: Mitochondrial Encephalomyopathies (D017237)
..Starting node ..MELAS Syndrome (D017241)
Child Nodes:
........Myopathy with lactic acidosis and sideroblastic anemia (C536101) L: 00039; 00472;
Sister Nodes:
..Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency (C565784) L: 00482; 00641; 00642; 00643;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816) L: 00411;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559) L: 00493;
..Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency (C567528)
..MELAS Syndrome (D017241) 1 C:2 L: 00163;
..MERRF Syndrome (D017243) L: 00162;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073) L: 00034;
..Mitochondrial encephalopathy (C538525)
..Mitochondrial neurogastrointestinal encephalopathy syndrome (C537477) 2 C:2 L: 00037;
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

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 : 00163;
MSeqDR has 2 matches in descendants: 00039; 00472;
Genes:

Phenotypes

1	HP:0001427	Mitochondrial inheritance
2	HP:0008619	Bilateral sensorineural hearing impairment
3	HP:0000519	Congenital cataract
4	HP:0001635	Congestive heart failure
5	HP:0100704	Cortical visual impairment
6	HP:0000726	Dementia NAMDC: Dementia
7	HP:0000819	Diabetes mellitus NAMDC: Diabetes mellitus
8	HP:0001298	Encephalopathy NAMDC: Encephalopathy (At least one neurological manifestation marked with an *)
9	HP:0002572	Episodic vomiting
10	HP:0002069	Generalized tonic-clonic seizures
11	HP:0001507	Growth abnormality NAMDC: Constitutional
12	HP:0012377	Hemianopia
13	HP:0001269	Hemiparesis
14	HP:0000822	Hypertension
15	HP:0003128	Lactic acidosis
16	HP:0001712	Left ventricular hypertrophy
17	HP:0002076	Migraine NAMDC: Migraine Headaches
18	HP:0003737	Mitochondrial myopathy
19	HP:0003198	Myopathy NAMDC: Myopathy
20	HP:0000602	Ophthalmoplegia
21	HP:0000408	Progressive sensorineural hearing impairment
22	HP:0003200	Ragged-red muscle fibers
23	HP:0002401	Stroke-like episode
24	HP:0003828	Variable expressivity
25	HP:0001716	Wolff-Parkinson-White syndrome NAMDC: Wolff-Parkinson-White

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_012920.1:m.8969G>A	4508	MT-ATP6	Likely pathogenic	rs794726857	RCV000171545\|RCV000854381\|RCV002260628\|RCV002247579;	Y	MONDO: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:M	M	8969	8969	m.8969G>A	ClinGen:CA199769,OMIM:516060.0012	C4225415 500011 Myopathy, lactic acidosis, and sideroblastic anemia 3;
NC_012920.1:m.7445A>G	-1	MT-CO1;MT-TS1	Pathogenic	rs199474818	RCV000010177\|RCV000010176\|RCV000850885;	Y	MONDO: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:550	M	7445	7445	m.7445A>G	ClinGen:CA120547,OMIM:590080.0002	C3151897 500008 Deafness, nonsyndromic sensorineural, mitochondrial;
NC_012920.1(MT-CO3):m.9247G>C	4514	MT-CO3	Uncertain significance	-1	RCV002288257;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	9247	9247	9247	-
NC_012920.1(MT-CYB):m.15437G>A	4519	MT-CYB	Uncertain significance	rs878853058	RCV000224435\|RCV000764855\|RCV000855292;	N	MedGen: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:25	M	15437	15437	M:g.15437G>A	ClinGen:CA10581343	CN517202 not provided;
NC_012920.1(MT-ND1):m.3380G>A	4535	MT-ND1	Pathogenic	rs1603218926	RCV000853646;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3380	3380	M:g.3380G>A	-
NC_012920.1:m.3481G>A	4535	MT-ND1	Pathogenic	rs587776433	RCV000143999\|RCV000853660;	N	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3481	3481	M:g.3481G>A	ClinGen:CA345910	C0023264 256000 Leigh syndrome;
NC_012920.1(MT-ND1):m.3502T>C	4535	MT-ND1	Likely pathogenic	rs1603218987	RCV000853665\|RCV002252257;	N	MONDO:MONDO:0010780,MedGen:C3151898,OMIM:500009, Orphanet:254864\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3502	3502	M:g.3502T>C	-
m.3697G>A	4535	MT-ND1	Likely pathogenic	rs199476122	RCV000010386\|RCV000010385\|RCV000056168\|RCV002221474;	Y	MONDO: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:	M	3697	3697	M:g.3697G>A	ClinGen:CA120647,OMIM:516000.0012	C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
m.3946G>A	4535	MT-ND1	Pathogenic/Likely pathogenic	rs199476123	RCV000010387\|RCV000853718\|RCV001542704;	N	MONDO: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:10	M	3946	3946	M:g.3946G>A	ClinGen:CA254862,OMIM:516000.0013	C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
m.3949T>C	4535	MT-ND1	Pathogenic	rs199476124	RCV000010388;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3949	3949	M:g.3949T>C	ClinGen:CA254863,OMIM:516000.0014	C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1(MT-ND1):m.4142G>A	4535	MT-ND1	Likely pathogenic	rs1603219317	RCV000853740;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4142	4142	M:g.4142G>A	-
m.11084A>G	4538	MT-ND4	Benign	rs199476113	RCV000010355\|RCV000854703;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	11084	11084	M:g.11084A>G	ClinGen:CA254857,OMIM:516003.0002	C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1(MT-ND5):m.12425del	4540	MT-ND5	Pathogenic	rs1603223730	RCV000854811\|RCV002226500\|RCV002249550;	N	MONDO: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, Orphanet	M	12418	12418	M:g.12418_12418del	-
m.12770A>G	4540	MT-ND5	Pathogenic	rs267606894	RCV000010339;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12770	12770	M:g.12770A>G	ClinGen:CA254855,OMIM:516005.0004	C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
m.13042G>A	4540	MT-ND5	Likely pathogenic	rs267606898	RCV000010347\|RCV000010348\|RCV000010349\|RCV000854885\|RCV002260592;	Y	MONDO: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:53	M	13042	13042	M:g.13042G>A	ClinGen:CA120633,OMIM:516005.0008	C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
m.13045A>C	4540	MT-ND5	Pathogenic	rs267606895	RCV000010340\|RCV000010341\|RCV000010342;	N	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:104\|MedGen:C1838951	M	13045	13045	M:g.13045A>C	ClinGen:CA120629,OMIM:516005.0005	C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1(MT-ND5):m.13046T>C	4540	MT-ND5	Likely pathogenic	rs1603224015	RCV000854886;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	13046	13046	M:g.13046T>C	-
m.13084A>T	4540	MT-ND5	Pathogenic	rs267606896	RCV000010343\|RCV000010344;	Y	MedGen:C1838951\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	13084	13084	M:g.13084A>T	ClinGen:CA120631,OMIM:516005.0006	C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1:m.13094T>C	4540	MT-ND5	Pathogenic	rs1603224029	RCV000854891\|RCV002249552\|RCV002291219;	Y	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:104\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	M	13094	13094	M:g.13094T>C	-
NC_012920.1(MT-ND5):m.13289G>A	4540	MT-ND5	Uncertain significance	-1	RCV002289433;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	13289	13289	13289	-
m.13513G>A	4540	MT-ND5	Pathogenic	rs267606897	RCV000010346\|RCV000010345\|RCV000144016\|RCV000224472\|RCV000494941;	Y	MedGen: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:68380	M	13513	13513	M:g.13513G>A	ClinGen:CA120632,OMIM:516005.0007	C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1(MT-ND5):m.13912C>T	4540	MT-ND5	Uncertain significance	-1	RCV002288279;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	13912	13912	13912	-
NC_012920.1(MT-ND5):m.14021T>C	4540	MT-ND5	Uncertain significance	-1	RCV002288334;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	14021	14021	14021	-
m.14453G>A	4541	MT-ND6	Likely pathogenic	rs199476107	RCV000010331\|RCV000855109\|RCV002260589;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	M	14453	14453	M:g.14453G>A	ClinGen:CA254853,OMIM:516006.0005	C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1(MT-ND6):m.14465G>A	4541	MT-ND6	Likely pathogenic	rs1603224738	RCV000855111;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	14465	14465	M:g.14465G>A	-
NC_012920.1(MT-CYB):m.5590G>A	4553	MT-TA	Uncertain significance	rs28619345	RCV000850805;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5590	5590	M:g.5590G>A	-
m.5591G>A	4553	MT-TA	Pathogenic	rs121434458	RCV000010251\|RCV000850806\|RCV002247299;	N	Human 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:68380	M	5591	5591	M:g.5591G>A	ClinGen:CA254845,OMIM:590000.0002	C0162670 251900 Mitochondrial myopathy;
NC_012920.1(MT-CYB):m.5592A>G	4553	MT-TA	Benign	rs1603220042	RCV000850807;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5592	5592	M:g.5592A>G	-
NC_012920.1(MT-CYB):m.5600A>G	4553	MT-TA	Likely benign	rs1603220045	RCV000850808;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5600	5600	M:g.5600A>G	-
NC_012920.1(MT-CYB):m.5601C>T	4553	MT-TA	Benign	rs376884056	RCV000850809;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5601	5601	M:g.5601C>T	-
NC_012920.1(MT-CYB):m.5603C>T	4553	MT-TA	Benign	rs369496446	RCV000850810;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5603	5603	M:g.5603C>T	-
NC_012920.1(MT-CYB):m.5604C>T	4553	MT-TA	Likely benign	rs1603220053	RCV000850811;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5604	5604	M:g.5604C>T	-
NC_012920.1(MT-CYB):m.5605A>G	4553	MT-TA	Benign	rs878963919	RCV000850812;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5605	5605	M:g.5605A>G	-
NC_012920.1(MT-CYB):m.5607T>C	4553	MT-TA	Uncertain significance	rs1603220054	RCV000850813;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5607	5607	M:g.5607T>C	-
NC_012920.1(MT-CYB):m.5608C>T	4553	MT-TA	Likely benign	rs1603220057	RCV000850814;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5608	5608	M:g.5608C>T	-
NC_012920.1(MT-CYB):m.5609T>C	4553	MT-TA	Uncertain significance	rs1603220058	RCV000850815;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5609	5609	M:g.5609T>C	-
NC_012920.1(MT-CYB):m.5618T>C	4553	MT-TA	Benign	rs1603220060	RCV000850816;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5618	5618	M:g.5618T>C	-
NC_012920.1(MT-CYB):m.5619G>A	4553	MT-TA	Uncertain significance	rs1603220062	RCV000850817;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5619	5619	M:g.5619G>A	-
NC_012920.1(MT-CYB):m.5628T>C	4553	MT-TA	Benign	rs1556423015	RCV000850818;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5628	5628	M:g.5628T>C	-
NC_012920.1(MT-CYB):m.5633C>T	4553	MT-TA	Benign	rs879226228	RCV000850819;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5633	5633	M:g.5633C>T	-
NC_012920.1(MT-CYB):m.5640A>G	4553	MT-TA	Likely benign	rs1603220065	RCV000850820\|RCV001787118;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MedGen:CN517202	M	5640	5640	M:g.5640A>G	-
NC_012920.1(MT-CYB):m.5645G>A	4553	MT-TA	Uncertain significance	rs1603220068	RCV000850821;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5645	5645	M:g.5645G>A	-
NC_012920.1(MT-CYB):m.5654T>C	4553	MT-TA	Uncertain significance	rs1603220072	RCV000850822;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5654	5654	M:g.5654T>C	-
NC_012920.1(MT-CYB):m.5655T>C	4553	MT-TA	Benign	rs1556423019	RCV000850823;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5655	5655	M:g.5655T>C	-
NC_012920.1(MT-CYB):m.5772G>A	4511	MT-TC	Benign	rs1556423031	RCV000850839;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5772	5772	M:g.5772G>A	-
NC_012920.1(MT-CYB):m.5773G>A	4511	MT-TC	Benign	rs9659239	RCV000850840;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5773	5773	M:g.5773G>A	-
NC_012920.1(MT-CYB):m.5774T>C	4511	MT-TC	Benign	rs1603220102	RCV000850841;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5774	5774	M:g.5774T>C	-
NC_012920.1(MT-CYB):m.5774T>G	4511	MT-TC	Benign	rs1603220102	RCV000850842;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5774	5774	M:g.5774T>G	-
NC_012920.1(MT-CYB):m.5775T>C	4511	MT-TC	Benign	rs1603220105	RCV000850843;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5775	5775	M:g.5775T>C	-
NC_012920.1(MT-CYB):m.5780G>A	4511	MT-TC	Benign	rs878999194	RCV000850844;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5780	5780	M:g.5780G>A	-
NC_012920.1(MT-CYB):m.5783G>A	4511	MT-TC	Benign	rs1603220110	RCV000850845;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5783	5783	M:g.5783G>A	-
NC_012920.1(MT-CYB):m.5786dup	4511	MT-TC	Likely benign	rs1603220115	RCV000850848;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5784	5785	M:g.5784_5785insT	-
NC_012920.1(MT-CYB):m.5785T>C	4511	MT-TC	Benign	rs373493739	RCV000850846;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5785	5785	M:g.5785T>C	-
NC_012920.1(MT-CYB):m.5786T>C	4511	MT-TC	Benign	rs1603220117	RCV000850847;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5786	5786	M:g.5786T>C	-
NC_012920.1(MT-CYB):m.5788T>C	4511	MT-TC	Benign	rs1556423033	RCV000850849;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5788	5788	M:g.5788T>C	-
NC_012920.1(MT-CYB):m.5791G>A	4511	MT-TC	Uncertain significance	rs1603220121	RCV000850850;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5791	5791	M:g.5791G>A	-
NC_012920.1(MT-CYB):m.5793A>G	4511	MT-TC	Uncertain significance	rs1603220122	RCV000850851;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5793	5793	M:g.5793A>G	-
NC_012920.1(MT-CYB):m.5794T>C	4511	MT-TC	Benign	rs1556423035	RCV000850852;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5794	5794	M:g.5794T>C	-
NC_012920.1(MT-CYB):m.5800A>G	4511	MT-TC	Likely benign	rs1603220125	RCV000850853;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5800	5800	M:g.5800A>G	-
NC_012920.1(MT-CYB):m.5802T>C	4511	MT-TC	Uncertain significance	rs1603220128	RCV000850854;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5802	5802	M:g.5802T>C	-
NC_012920.1(MT-CYB):m.5804A>G	4511	MT-TC	Uncertain significance	rs1603220130	RCV000850855;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5804	5804	M:g.5804A>G	-
NC_012920.1(MT-CYB):m.5806T>C	4511	MT-TC	Benign	rs879211572	RCV000850856;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5806	5806	M:g.5806T>C	-
NC_012920.1(MT-CYB):m.5807A>G	4511	MT-TC	Likely benign	rs386828978	RCV000850857;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5807	5807	M:g.5807A>G	-
NC_012920.1(MT-CYB):m.5809G>A	4511	MT-TC	Uncertain significance	rs1603220134	RCV000850858;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5809	5809	M:g.5809G>A	-
NC_012920.1(MT-CYB):m.5811A>G	4511	MT-TC	Benign	rs1603220136	RCV000850859;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5811	5811	M:g.5811A>G	-
m.5814T>C	4511	MT-TC	Conflicting interpretations of pathogenicity	rs200077222	RCV000022896\|RCV000506681;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MedGen:CN517202	M	5814	5814	M:g.5814T>C	ClinGen:CA259739,OMIM:590020.0001	C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1(MT-CYB):m.5814T>A	4511	MT-TC	Likely benign	rs200077222	RCV000850860;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5814	5814	M:g.5814T>A	-
NC_012920.1(MT-CYB):m.5817C>T	4511	MT-TC	Benign	rs1603220138	RCV000850861;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5817	5817	M:g.5817C>T	-
NC_012920.1(MT-CYB):m.5819T>C	4511	MT-TC	Uncertain significance	rs1603220139	RCV000850862;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5819	5819	M:g.5819T>C	-
NC_012920.1(MT-CYB):m.5821G>A	4511	MT-TC	Benign	rs56133209	RCV000850863;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5821	5821	M:g.5821G>A	-
NC_012920.1(MT-CYB):m.5822G>A	4511	MT-TC	Benign	rs1556423041	RCV000850864;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5822	5822	M:g.5822G>A	-
NC_012920.1(MT-CYB):m.5823A>G	4511	MT-TC	Benign	rs878875817	RCV000850865;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5823	5823	M:g.5823A>G	-
NC_012920.1(MT-CYB):m.5824G>A	4511	MT-TC	Benign	rs879140945	RCV000850866;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5824	5824	M:g.5824G>A	-
NC_012920.1(MT-CYB):m.7518A>G	4555	MT-TD	Uncertain significance	rs1603220992	RCV000850908;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7518	7518	M:g.7518A>G	-
NC_012920.1(MT-CYB):m.7520G>A	4555	MT-TD	Uncertain significance	rs1603220993	RCV000850909;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7520	7520	M:g.7520G>A	-
NC_012920.1(MT-CYB):m.7521G>A	4555	MT-TD	Benign	rs200336937	RCV000850910;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7521	7521	M:g.7521G>A	-
NC_012920.1(MT-CYB):m.7525T>C	4555	MT-TD	Uncertain significance	rs1603220995	RCV000850911;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7525	7525	M:g.7525T>C	-
NC_012920.1(MT-CYB):m.7533C>T	4555	MT-TD	Benign	rs1603221000	RCV000850912;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7533	7533	M:g.7533C>T	-
NC_012920.1(MT-CYB):m.7534C>T	4555	MT-TD	Likely benign	rs1603221002	RCV000850913;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7534	7534	M:g.7534C>T	-
NC_012920.1(MT-CYB):m.7538T>C	4555	MT-TD	Uncertain significance	rs1603221004	RCV000850914;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7538	7538	M:g.7538T>C	-
NC_012920.1(MT-CYB):m.7543A>G	4555	MT-TD	Benign	rs1603221006	RCV000850915;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7543	7543	M:g.7543A>G	-
NC_012920.1(MT-CYB):m.7546T>C	4555	MT-TD	Likely benign	rs1603221007	RCV000850916;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7546	7546	M:g.7546T>C	-
NC_012920.1(MT-CYB):m.7547T>C	4555	MT-TD	Benign	rs879076142	RCV000850917;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7547	7547	M:g.7547T>C	-
NC_012920.1(MT-CYB):m.7552A>G	4555	MT-TD	Likely benign	rs1603221008	RCV000850918;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7552	7552	M:g.7552A>G	-
NC_012920.1(MT-CYB):m.7555T>C	4555	MT-TD	Uncertain significance	rs1603221010	RCV000850919;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7555	7555	M:g.7555T>C	-
NC_012920.1(MT-CYB):m.7559A>G	4555	MT-TD	Benign	rs1556423308	RCV000850920;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7559	7559	M:g.7559A>G	-
NC_012920.1(MT-CYB):m.7561T>C	4555	MT-TD	Benign	rs1603221012	RCV000850921;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7561	7561	M:g.7561T>C	-
NC_012920.1(MT-CYB):m.7562A>G	4555	MT-TD	Uncertain significance	rs1603221015	RCV000850922;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7562	7562	M:g.7562A>G	-
NC_012920.1(MT-TD):m.7566G>A	4555	MT-TD	Pathogenic/Likely pathogenic	rs1603221016	RCV000850923\|RCV002249543;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	M	7566	7566	M:g.7566G>A	-
NC_012920.1(MT-CYB):m.7567C>T	4555	MT-TD	Likely benign	rs1603221018	RCV000850924;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7567	7567	M:g.7567C>T	-
NC_012920.1(MT-CYB):m.7568dup	4555	MT-TD	Uncertain significance	rs1603221020	RCV000850926;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7567	7568	M:g.7567_7568insT	-
NC_012920.1(MT-CYB):m.7568T>C	4555	MT-TD	Benign	rs1603221019	RCV000850925;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7568	7568	M:g.7568T>C	-
NC_012920.1(MT-CYB):m.7569A>G	4555	MT-TD	Benign	rs1603221021	RCV000850927;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7569	7569	M:g.7569A>G	-
NC_012920.1(MT-CYB):m.7570A>G	4555	MT-TD	Benign	rs1556423311	RCV000850928;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7570	7570	M:g.7570A>G	-
NC_012920.1(MT-CYB):m.7572T>C	4555	MT-TD	Benign	rs1603221022	RCV000850929;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7572	7572	M:g.7572T>C	-
NC_012920.1(MT-CYB):m.7576A>G	4555	MT-TD	Likely benign	rs1603221023	RCV000850930;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7576	7576	M:g.7576A>G	-
NC_012920.1(MT-CYB):m.7577T>C	4555	MT-TD	Uncertain significance	rs1603221025	RCV000850931;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7577	7577	M:g.7577T>C	-
NC_012920.1(MT-CYB):m.7581T>C	4555	MT-TD	Benign	rs201582552	RCV000850932;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7581	7581	M:g.7581T>C	-
NC_012920.1(MT-CYB):m.7582C>T	4555	MT-TD	Uncertain significance	rs1603221026	RCV000850933;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7582	7582	M:g.7582C>T	-
NC_012920.1(MT-CYB):m.7585A>G	4555	MT-TD	Likely benign	rs1603221028	RCV000850934;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7585	7585	M:g.7585A>G	-
m.14674T>C	4556	MT-TE	Pathogenic/Likely pathogenic	rs387906421	RCV000010243\|RCV000224954\|RCV000495655\|RCV000851087;	Y	MONDO: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:550	M	14674	14674	M:g.14674T>C	ClinGen:CA120581,OMIM:590025.0002	C0751651 Mitochondrial diseases;
NC_012920.1(MT-CYB):m.14681G>A	4556	MT-TE	Uncertain significance	rs1603224827	RCV000851088;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	14681	14681	M:g.14681G>A	-
NC_012920.1(MT-CYB):m.14683A>G	4556	MT-TE	Benign	rs1603224828	RCV000851089;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	14683	14683	M:g.14683A>G	-
NC_012920.1(MT-CYB):m.14684C>T	4556	MT-TE	Benign	rs1603224831	RCV000851090;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	14684	14684	M:g.14684C>T	-
NC_012920.1(MT-CYB):m.14687A>G	4556	MT-TE	Benign	rs200189658	RCV000851091;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	14687	14687	M:g.14687A>G	-
NC_012920.1(MT-CYB):m.14690A>G	4556	MT-TE	Benign	rs1603224834	RCV000851092;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	14690	14690	M:g.14690A>G	-
NC_012920.1(MT-CYB):m.14691C>T	4556	MT-TE	Likely benign	rs1556424478	RCV000851093;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	14691	14691	M:g.14691C>T	-
NC_012920.1(MT-CYB):m.14693A>G	4556	MT-TE	Benign	rs386829226	RCV000851094;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	14693	14693	M:g.14693A>G	-
NC_012920.1(MT-CYB):m.14696A>C	4556	MT-TE	Benign	rs1556424481	RCV000851096;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	14696	14696	M:g.14696A>C	-
NC_012920.1(MT-CYB):m.14696A>G	4556	MT-TE	Benign	rs1556424481	RCV000851095;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	14696	14696	M:g.14696A>G	-
NC_012920.1:m.14706A>G	4556	MT-TE	Benign	rs1057516070	RCV000408927\|RCV000408954\|RCV000662335\|RCV000851097;	N	MedGen: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:550	M	14706	14706	M:g.14706A>G	ClinGen:CA16040637	C0424605 Developmental delay;
m.14709T>C	4556	MT-TE	Pathogenic/Likely pathogenic	rs121434453	RCV000010241\|RCV000032996\|RCV000495337\|RCV000851098\|RCV001089486;	Y	MedGen: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:	M	14709	14709	M:g.14709T>C	ClinGen:CA120580,OMIM:590025.0001	C0342289 520000 Diabetes-deafness syndrome maternally transmitted;
NC_012920.1(MT-CYB):m.14710G>A	4556	MT-TE	Pathogenic	rs1603224840	RCV000851099;	Y	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	14710	14710	M:g.14710G>A	-
NC_012920.1(MT-CYB):m.14716C>T	4556	MT-TE	Likely benign	rs1603224841	RCV000851100;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	14716	14716	M:g.14716C>T	-
NC_012920.1(MT-CYB):m.14727T>C	4556	MT-TE	Benign	rs1603224847	RCV000851101;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	14727	14727	M:g.14727T>C	-
NC_012920.1(MT-CYB):m.14729T>C	4556	MT-TE	Uncertain significance	rs1603224848	RCV000851102;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	14729	14729	M:g.14729T>C	-
NC_012920.1(MT-CYB):m.14739G>A	4556	MT-TE	Pathogenic	rs1603224850	RCV000851103;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	14739	14739	M:g.14739G>A	-
NC_012920.1(MT-CYB):m.578T>C	4558	MT-TF	Likely pathogenic	rs1603218446	RCV000850630;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	578	578	M:g.578T>C	-
NC_012920.1(MT-CYB):m.579T>C	4558	MT-TF	Uncertain significance	rs1603218447	RCV000850631;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	579	579	M:g.579T>C	-
m.583G>A	4558	MT-TF	Pathogenic	rs118203885	RCV000010186;	Y	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	583	583	M:g.583G>A	ClinGen:CA254834,OMIM:590070.0001	C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
m.586G>A	4558	MT-TF	Pathogenic	rs387906734	RCV000022903\|RCV000850632;	N	Human Phenotype Ontology:HP:0006789,MedGen:C1852373\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	586	586	M:g.586G>A	ClinGen:CA128831,OMIM:590070.0006	C1852373 Mitochondrial encephalopathy;
NC_012920.1(MT-CYB):m.588T>C	4558	MT-TF	Uncertain significance	rs1603218449	RCV000850633;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	588	588	M:g.588T>C	-
NC_012920.1(MT-CYB):m.592C>T	4558	MT-TF	Benign	rs1603218450	RCV000850634;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	592	592	M:g.592C>T	-
NC_012920.1(MT-CYB):m.593T>C	4558	MT-TF	Benign	rs879123694	RCV000850635;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	593	593	M:g.593T>C	-
NC_012920.1(MT-CYB):m.595dup	4558	MT-TF	Benign	rs1603218451	RCV000850636;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	593	594	M:g.593_594insC	-
NC_012920.1(MT-CYB):m.595C>A	4558	MT-TF	Likely benign	rs1603218452	RCV000850637;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	595	595	M:g.595C>A	-
NC_012920.1(MT-CYB):m.595C>T	4558	MT-TF	Likely benign	rs1603218452	RCV000850638;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	595	595	M:g.595C>T	-
NC_012920.1(MT-CYB):m.596T>C	4558	MT-TF	Benign	rs1556422474	RCV000850639;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	596	596	M:g.596T>C	-
NC_012920.1(MT-CYB):m.597C>T	4558	MT-TF	Benign	rs1603218453	RCV000850640;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	597	597	M:g.597C>T	-
NC_012920.1(MT-CYB):m.597_598insT	4558	MT-TF	Likely benign	rs1603218455	RCV000850641;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	597	598	M:g.597_598insT	-
NC_012920.1(MT-CYB):m.603A>G	4558	MT-TF	Likely benign	rs1603218456	RCV000850642;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	603	603	M:g.603A>G	-
NC_012920.1(MT-CYB):m.606A>G	4558	MT-TF	Benign	rs200056066	RCV000850643;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	606	606	M:g.606A>G	-
m.616T>C	4558	MT-TF	Likely pathogenic	rs387906420	RCV000010189\|RCV000850644\|RCV001804724\|RCV002247290;	Y	MedGen: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:68380	M	616	616	M:g.616T>C	ClinGen:CA120552,OMIM:590070.0004	C4016624 Epilepsy, mitochondrial;
NC_012920.1(MT-CYB):m.618T>C	4558	MT-TF	Pathogenic/Likely pathogenic	rs1603218460	RCV000850645\|RCV002249541;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	M	618	618	M:g.618T>C	-
NC_012920.1(MT-CYB):m.619T>C	4558	MT-TF	Benign	rs1603218462	RCV000850646;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	619	619	M:g.619T>C	-
NC_012920.1(MT-CYB):m.621A>G	4558	MT-TF	Likely benign	rs1603218463	RCV000850647;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	621	621	M:g.621A>G	-
NC_012920.1(MT-CYB):m.624C>T	4558	MT-TF	Uncertain significance	rs1603218465	RCV000850648;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	624	624	M:g.624C>T	-
NC_012920.1(MT-CYB):m.628C>T	4558	MT-TF	Uncertain significance	rs1603218467	RCV000850649;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	628	628	M:g.628C>T	-
NC_012920.1(MT-CYB):m.629T>A	4558	MT-TF	Likely benign	rs201031012	RCV000850651;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	629	629	M:g.629T>A	-
NC_012920.1(MT-CYB):m.629T>C	4558	MT-TF	Benign	rs201031012	RCV000850650;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	629	629	M:g.629T>C	-
NC_012920.1(MT-CYB):m.630C>T	4558	MT-TF	Benign	rs1603218468	RCV000850652;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	630	630	M:g.630C>T	-
NC_012920.1(MT-CYB):m.633A>G	4558	MT-TF	Benign	rs1603218469	RCV000850653;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	633	633	M:g.633A>G	-
NC_012920.1(MT-CYB):m.634T>A	4558	MT-TF	Benign	rs1603218470	RCV000850654;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	634	634	M:g.634T>A	-
NC_012920.1(MT-CYB):m.634T>C	4558	MT-TF	Benign	rs1603218470	RCV000850655;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	634	634	M:g.634T>C	-
NC_012920.1(MT-CYB):m.635C>T	4558	MT-TF	Benign	rs1603218471	RCV000850656;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	635	635	M:g.635C>T	-
NC_012920.1(MT-CYB):m.643A>G	4558	MT-TF	Uncertain significance	rs1603218472	RCV000850657\|RCV001805905;	N	MONDO: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 On	M	643	643	M:g.643A>G	-
NC_012920.1(MT-CYB):m.644A>G	4558	MT-TF	Benign	rs1556422475	RCV000850658;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	644	644	M:g.644A>G	-
NC_012920.1(MT-CYB):m.647A>G	4558	MT-TF	Benign	rs1569483788	RCV000850659;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	647	647	M:g.647A>G	-
NC_012920.1(MT-CYB):m.9991A>G	4563	MT-TG	Likely benign	rs1603222612	RCV000850963;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	9991	9991	M:g.9991A>G	-
NC_012920.1(MT-CYB):m.9993T>C	4563	MT-TG	Uncertain significance	rs1603222613	RCV000850964;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	9993	9993	M:g.9993T>C	-
NC_012920.1(MT-CYB):m.9995T>C	4563	MT-TG	Likely benign	rs1603222616	RCV000850965;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	9995	9995	M:g.9995T>C	-
NC_012920.1(MT-CYB):m.9996T>C	4563	MT-TG	Uncertain significance	rs1556423755	RCV000850966;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	9996	9996	M:g.9996T>C	-
NC_012920.1(MT-CYB):m.9997T>A	4563	MT-TG	Likely pathogenic	rs121434475	RCV000850967;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	9997	9997	M:g.9997T>A	-
NC_012920.1(MT-CYB):m.10003T>C	4563	MT-TG	Benign	rs1603222620	RCV000850968;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10003	10003	M:g.10003T>C	-
NC_012920.1(MT-CYB):m.10005A>G	4563	MT-TG	Benign	rs1603222621	RCV000850969;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10005	10005	M:g.10005A>G	-
NC_012920.1(MT-CYB):m.10005A>T	4563	MT-TG	Uncertain significance	rs1603222621	RCV000850970;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10005	10005	M:g.10005A>T	-
NC_012920.1(MT-CYB):m.10006A>G	4563	MT-TG	Benign	rs1603222622	RCV000850971;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10006	10006	M:g.10006A>G	-
NC_012920.1(MT-CYB):m.10007T>C	4563	MT-TG	Benign	rs201906571	RCV000850972;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10007	10007	M:g.10007T>C	-
NC_012920.1(MT-CYB):m.10008A>G	4563	MT-TG	Uncertain significance	rs1603222626	RCV000850973;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10008	10008	M:g.10008A>G	-
NC_012920.1(MT-CYB):m.10013C>T	4563	MT-TG	Likely benign	rs1603222627	RCV000850974;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10013	10013	M:g.10013C>T	-
NC_012920.1(MT-CYB):m.10014G>A	4563	MT-TG	Uncertain significance	rs1603222629	RCV000850975;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10014	10014	M:g.10014G>A	-
NC_012920.1(MT-CYB):m.10015T>C	4563	MT-TG	Uncertain significance	rs28374827	RCV000850976;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10015	10015	M:g.10015T>C	-
NC_012920.1:m.10018A>G	4563	MT-TG	Benign	rs1556423757	RCV000509360\|RCV000850977;	N	MedGen:CN517202\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10018	10018	M:g.10018A>G	ClinGen:CA658653723	CN517202 not provided;
NC_012920.1(MT-CYB):m.10020T>C	4563	MT-TG	Uncertain significance	rs1603222636	RCV000850978;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10020	10020	M:g.10020T>C	-
NC_012920.1(MT-CYB):m.10027T>C	4563	MT-TG	Uncertain significance	rs1603222638	RCV000850979;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10027	10027	M:g.10027T>C	-
NC_012920.1(MT-CYB):m.10029A>G	4563	MT-TG	Benign	rs1603222639	RCV000850980;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10029	10029	M:g.10029A>G	-
NC_012920.1(MT-CYB):m.10031T>C	4563	MT-TG	Benign	rs200048690	RCV000850981;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10031	10031	M:g.10031T>C	-
NC_012920.1(MT-CYB):m.10034T>C	4563	MT-TG	Benign	rs41347846	RCV000850982\|RCV002221589;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	M	10034	10034	M:g.10034T>C	-
NC_012920.1(MT-CYB):m.10040C>T	4563	MT-TG	Likely benign	rs1603222642	RCV000850983;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10040	10040	M:g.10040C>T	-
NC_012920.1(MT-CYB):m.10042A>G	4563	MT-TG	Benign	rs1603222643	RCV000850984;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10042	10042	M:g.10042A>G	-
NC_012920.1(MT-CYB):m.10043del	4563	MT-TG	Uncertain significance	rs1603222645	RCV000850985;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10043	10043	M:g.10043_10043del	-
m.10044A>G	4563	MT-TG	Benign	rs41362547	RCV000010237\|RCV000850986;	N	Human Phenotype Ontology:HP:0001699,MedGen:C0011071\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10044	10044	M:g.10044A>G	ClinGen:CA120578,OMIM:590035.0003	C0011071 Sudden death;
NC_012920.1(MT-CYB):m.10045T>C	4563	MT-TG	Benign	rs1603222648	RCV000850987;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10045	10045	M:g.10045T>C	-
NC_012920.1:m.10046T>C	4563	MT-TG	Likely benign	rs876661357	RCV000223791\|RCV000850988;	N	MedGen:CN169374\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10046	10046	M:g.10046T>C	ClinGen:CA10581193	CN169374 not specified;
NC_012920.1(MT-CYB):m.10048A>G	4563	MT-TG	Uncertain significance	rs878957961	RCV000850989;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10048	10048	M:g.10048A>G	-
NC_012920.1(MT-CYB):m.10055A>G	4563	MT-TG	Uncertain significance	rs1603222653	RCV000850990;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10055	10055	M:g.10055A>G	-
NC_012920.1(MT-CYB):m.12141A>G	4564	MT-TH	Benign	rs1603223565	RCV000851009;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12141	12141	M:g.12141A>G	-
NC_012920.1(MT-CYB):m.12142A>G	4564	MT-TH	Benign	rs1603223566	RCV000851010;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12142	12142	M:g.12142A>G	-
NC_012920.1(MT-CYB):m.12143T>C	4564	MT-TH	Uncertain significance	rs1603223568	RCV000851011;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12143	12143	M:g.12143T>C	-
NC_012920.1(MT-CYB):m.12144A>G	4564	MT-TH	Uncertain significance	rs1603223569	RCV000851012;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12144	12144	M:g.12144A>G	-
m.12147G>A	4564	MT-TH	Pathogenic	rs121434474	RCV000010234\|RCV000851013\|RCV002247294;	Y	MedGen:C3151970\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	M	12147	12147	M:g.12147G>A	ClinGen:CA120576,OMIM:590040.0003	C3151970 MERRF/MELAS overlap syndrome;
NC_012920.1(MT-CYB):m.12148T>C	4564	MT-TH	Likely pathogenic	rs1603223571	RCV000851014;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12148	12148	M:g.12148T>C	-
NC_012920.1(MT-CYB):m.12150T>C	4564	MT-TH	Uncertain significance	rs1603223574	RCV000851015;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12150	12150	M:g.12150T>C	-
NC_012920.1(MT-CYB):m.12151A>G	4564	MT-TH	Benign	rs1603223576	RCV000851016;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12151	12151	M:g.12151A>G	-
NC_012920.1(MT-TH):m.12153C>T	4564	MT-TH	Conflicting interpretations of pathogenicity	rs376606918	RCV000426740\|RCV000851017;	N	MedGen:CN517202\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12153	12153	M:g.12153C>T	ClinGen:CA16603227	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_012920.1(MT-CYB):m.12160A>G	4564	MT-TH	Likely benign	rs1603223579	RCV000851018;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12160	12160	M:g.12160A>G	-
NC_012920.1(MT-CYB):m.12161T>C	4564	MT-TH	Benign	rs386829147	RCV000851019;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12161	12161	M:g.12161T>C	-
NC_012920.1(MT-CYB):m.12163A>G	4564	MT-TH	Uncertain significance	rs1603223581	RCV000851020;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12163	12163	M:g.12163A>G	-
NC_012920.1(MT-CYB):m.12164G>A	4564	MT-TH	Likely benign	rs1603223582	RCV000851021;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12164	12164	M:g.12164G>A	-
NC_012920.1(MT-CYB):m.12166T>C	4564	MT-TH	Benign	rs879126000	RCV000851022;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12166	12166	M:g.12166T>C	-
NC_012920.1(MT-CYB):m.12171A>G	4564	MT-TH	Benign	rs1603223589	RCV000851023;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12171	12171	M:g.12171A>G	-
NC_012920.1(MT-CYB):m.12172A>G	4564	MT-TH	Benign	rs1556424073	RCV000851024;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12172	12172	M:g.12172A>G	-
NC_012920.1(MT-CYB):m.12173T>A	4564	MT-TH	Uncertain significance	rs1556424075	RCV000851026;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12173	12173	M:g.12173T>A	-
NC_012920.1(MT-CYB):m.12173T>C	4564	MT-TH	Benign	rs1556424075	RCV000851025;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12173	12173	M:g.12173T>C	-
NC_012920.1(MT-TH):m.12175T>C	4564	MT-TH	Conflicting interpretations of pathogenicity	rs1057520099	RCV000426541\|RCV000851027;	N	MedGen:CN517202\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12175	12175	M:g.12175T>C	ClinGen:CA16603222	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_012920.1(MT-CYB):m.12176G>A	4564	MT-TH	Uncertain significance	rs1603223594	RCV000851028;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12176	12176	M:g.12176G>A	-
NC_012920.1(MT-CYB):m.12178C>T	4564	MT-TH	Benign	rs1603223596	RCV000851029;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12178	12178	M:g.12178C>T	-
NC_012920.1(MT-CYB):m.12181C>T	4564	MT-TH	Likely benign	rs1603223598	RCV000851030;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12181	12181	M:g.12181C>T	-
NC_012920.1(MT-CYB):m.12184A>G	4564	MT-TH	Uncertain significance	rs1603223603	RCV000851031;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12184	12184	M:g.12184A>G	-
NC_012920.1(MT-CYB):m.12185G>A	4564	MT-TH	Uncertain significance	rs1603223607	RCV000851032;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12185	12185	M:g.12185G>A	-
NC_012920.1(MT-CYB):m.12188T>C	4564	MT-TH	Benign	rs879128211	RCV000851033;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12188	12188	M:g.12188T>C	-
NC_012920.1(MT-CYB):m.12189T>C	4564	MT-TH	Benign	rs28505538	RCV000851034;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12189	12189	M:g.12189T>C	-
NC_012920.1(MT-CYB):m.12191C>T	4564	MT-TH	Benign	rs1603223610	RCV000851035;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12191	12191	M:g.12191C>T	-
m.12192G>A	4564	MT-TH	Benign	rs3134560	RCV000010231\|RCV000010232\|RCV000851036;	N	MedGen:C4016610\|MedGen:C3532240\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12192	12192	M:g.12192G>A	ClinGen:CA120574,OMIM:590040.0001	C3532240 Cardiomyopathy, hypertrophic, mitochondrial;
NC_012920.1(MT-CYB):m.12193A>G	4564	MT-TH	Benign	rs1603223611	RCV000851037;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12193	12193	M:g.12193A>G	-
NC_012920.1(MT-CYB):m.12196C>T	4564	MT-TH	Likely benign	rs1556424080	RCV000851038;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12196	12196	M:g.12196C>T	-
m.12201T>C	4564	MT-TH	Uncertain significance	rs387906733	RCV000022899\|RCV000851039;	N	MONDO:MONDO:0010779,MedGen:C3151897,OMIM:500008, Orphanet:90641\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12201	12201	M:g.12201T>C	ClinGen:CA259740,OMIM:590040.0004	C3151897 500008 Deafness, nonsyndromic sensorineural, mitochondrial;
NC_012920.1(MT-CYB):m.12202T>C	4564	MT-TH	Uncertain significance	rs1603223613	RCV000851040;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12202	12202	M:g.12202T>C	-
NC_012920.1(MT-CYB):m.12204A>C	4564	MT-TH	Uncertain significance	rs1603223614	RCV000851041;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12204	12204	M:g.12204A>C	-
NC_012920.1(MT-CYB):m.12205C>T	4564	MT-TH	Uncertain significance	rs1603223615	RCV000851042;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12205	12205	M:g.12205C>T	-
NC_012920.1(MT-CYB):m.4264G>A	4565	MT-TI	Uncertain significance	rs1603219385	RCV000850714;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4264	4264	M:g.4264G>A	-
NC_012920.1:m.4277T>C	4565	MT-TI	Benign	rs876661358	RCV000223876\|RCV000850715\|RCV001009555;	N	MedGen:CN169374\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MedGen:CN517202	M	4277	4277	M:g.4277T>C	ClinGen:CA10581200	CN169374 not specified;
m.4284G>A	4565	MT-TI	Conflicting interpretations of pathogenicity	rs121434468	RCV000010227\|RCV000850716\|RCV001838978\|RCV002247292;	N	MedGen:C0559758\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MedGen:CN517202\|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551	M	4284	4284	M:g.4284G>A	ClinGen:CA120571,OMIM:590045.0004	C0559758 Multisystem disorder;
m.4290T>C	4565	MT-TI	Uncertain significance	rs121434469	RCV000010228\|RCV000850717;	N	MedGen:C4016614\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4290	4290	M:g.4290T>C	ClinGen:CA120572,OMIM:590045.0005	C4016614 Encephalopathy, familial progressive necrotizing;
m.4295A>G	4565	MT-TI	Conflicting interpretations of pathogenicity	rs121434467	RCV000010226\|RCV000022900\|RCV000224071\|RCV000223744\|RCV000850718;	N	MONDO: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:550	M	4295	4295	M:g.4295A>G	ClinGen:CA254841,OMIM:590045.0003	C3151897 500008 Deafness, nonsyndromic sensorineural, mitochondrial;
NC_012920.1(MT-CYB):m.4296G>A	4565	MT-TI	Pathogenic/Likely pathogenic	rs1603219393	RCV000850719\|RCV002249542;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551	M	4296	4296	M:g.4296G>A	-
NC_012920.1(MT-CYB):m.4298G>A	4565	MT-TI	Pathogenic	rs1603219395	RCV000850720;	Y	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4298	4298	M:g.4298G>A	-
NC_012920.1(MT-CYB):m.4308G>A	4565	MT-TI	Uncertain significance	rs1603219396	RCV000850721\|RCV002291218;	Y	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	M	4308	4308	M:g.4308G>A	-
NC_012920.1(MT-CYB):m.4310A>G	4565	MT-TI	Benign	rs1556422841	RCV000850722;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4310	4310	M:g.4310A>G	-
NC_012920.1(MT-CYB):m.4312C>T	4565	MT-TI	Benign	rs193303033	RCV000850723;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4312	4312	M:g.4312C>T	-
NC_012920.1(MT-CYB):m.4313T>C	4565	MT-TI	Benign	rs1603219398	RCV000850724;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4313	4313	M:g.4313T>C	-
NC_012920.1(MT-CYB):m.4314del	4565	MT-TI	Likely benign	rs1603219400	RCV000850727;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4313	4313	M:g.4313_4313del	-
NC_012920.1(MT-CYB):m.4314T>A	4565	MT-TI	Benign	rs1603219401	RCV000850726;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4314	4314	M:g.4314T>A	-
NC_012920.1(MT-CYB):m.4314T>C	4565	MT-TI	Benign	rs1603219401	RCV000850725;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4314	4314	M:g.4314T>C	-
NC_012920.1:m.4317delA	4565	MT-TI	Benign	rs876661361	RCV000223713\|RCV000850730;	N	MedGen:CN169374\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4315	4315	M:g.4315_4315del	ClinGen:CA10581203	CN169374 not specified;
NC_012920.1:m.4316A>G	4565	MT-TI	Benign	rs876661360	RCV000223881\|RCV000850728;	N	MedGen:CN169374\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4316	4316	M:g.4316A>G	ClinGen:CA10581202	CN169374 not specified;
m.4317A>G	4565	MT-TI	Benign	rs121434465	RCV000010224\|RCV000850729;	N	MedGen:C4016612\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4317	4317	M:g.4317A>G	ClinGen:CA120569,OMIM:590045.0001	C4016612 Cardiomyopathy, fatal infantile;
NC_012920.1(MT-CYB):m.4318C>T	4565	MT-TI	Likely benign	rs1603219405	RCV000850731;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4318	4318	M:g.4318C>T	-
NC_012920.1(MT-CYB):m.4320C>A	4565	MT-TI	Uncertain significance	rs1603219406	RCV000850733;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4320	4320	M:g.4320C>A	-
NC_012920.1(MT-CYB):m.4320C>T	4565	MT-TI	Uncertain significance	rs1603219406	RCV000850732;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4320	4320	M:g.4320C>T	-
NC_012920.1(MT-CYB):m.4327T>C	4565	MT-TI	Uncertain significance	rs1603219411	RCV000850734\|RCV001090135;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	M	4327	4327	M:g.4327T>C	-
m.8296A>G	4566	MT-TK	Benign	rs118192102	RCV000010201\|RCV000850935;	N	MONDO:MONDO:0010785,MedGen:C0342289,OMIM:520000, Orphanet:225\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8296	8296	M:g.8296A>G	ClinGen:CA120557,OMIM:590060.0005	C0342289 520000 Diabetes-deafness syndrome maternally transmitted;
NC_012920.1(MT-CYB):m.8298T>C	4566	MT-TK	Likely benign	rs1603221389	RCV000850936;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8298	8298	M:g.8298T>C	-
NC_012920.1(MT-CYB):m.8299G>A	4566	MT-TK	Likely pathogenic	rs1603221391	RCV000850937;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8299	8299	M:g.8299G>A	-
NC_012920.1(MT-CYB):m.8300T>C	4566	MT-TK	Likely benign	rs1603221393	RCV000850938;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8300	8300	M:g.8300T>C	-
NC_012920.1(MT-CYB):m.8301A>G	4566	MT-TK	Uncertain significance	rs1603221396	RCV000850939;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8301	8301	M:g.8301A>G	-
NC_012920.1(MT-CYB):m.8308A>G	4566	MT-TK	Benign	rs879081228	RCV000850940;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8308	8308	M:g.8308A>G	-
NC_012920.1(MT-CYB):m.8311T>A	4566	MT-TK	Uncertain significance	rs371589230	RCV000850942;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8311	8311	M:g.8311T>A	-
NC_012920.1(MT-CYB):m.8311T>C	4566	MT-TK	Benign	rs371589230	RCV000850941;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8311	8311	M:g.8311T>C	-
NC_012920.1(MT-CYB):m.8315A>G	4566	MT-TK	Likely benign	rs1603221400	RCV000850943;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8315	8315	M:g.8315A>G	-
NC_012920.1(MT-CYB):m.8319A>G	4566	MT-TK	Conflicting interpretations of pathogenicity	rs1603221401	RCV000850944\|RCV002290478;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0010787,MedGen:C0022541,OMIM:530000, Orphanet:480	M	8319	8319	M:g.8319A>G	-
NC_012920.1(MT-CYB):m.8331A>G	4566	MT-TK	Likely benign	rs1603221403	RCV000850945;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8331	8331	M:g.8331A>G	-
NC_012920.1(MT-CYB):m.8337T>C	4566	MT-TK	Benign	rs1603221405	RCV000850946;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8337	8337	M:g.8337T>C	-
NC_012920.1(MT-CYB):m.8338A>G	4566	MT-TK	Likely benign	rs1603221407	RCV000850947;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8338	8338	M:g.8338A>G	-
NC_012920.1(MT-CYB):m.8340_8341insT	4566	MT-TK	Uncertain significance	rs1603221409	RCV000850948;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8340	8341	M:g.8340_8341insT	-
NC_012920.1(MT-CYB):m.8343A>G	4566	MT-TK	Benign	rs1603221411	RCV000850949;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8343	8343	M:g.8343A>G	-
NC_012920.1(MT-CYB):m.8345C>T	4566	MT-TK	Benign	rs1603221413	RCV000850951;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8345	8345	M:g.8345C>T	-
NC_012920.1(MT-CYB):m.8346C>A	4566	MT-TK	Likely benign	rs1603221415	RCV000850952;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8346	8346	M:g.8346C>A	-
NC_012920.1(MT-CYB):m.8347A>G	4566	MT-TK	Benign	rs1603221417	RCV000850953;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8347	8347	M:g.8347A>G	-
NC_012920.1(MT-CYB):m.8348A>G	4566	MT-TK	Benign/Likely benign	rs1556423430	RCV000850954\|RCV000992386;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MedGen:CN517202	M	8348	8348	M:g.8348A>G	-
NC_012920.1(MT-CYB):m.8349C>T	4566	MT-TK	Benign	rs1603221418	RCV000850955;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8349	8349	M:g.8349C>T	-
NC_012920.1(MT-CYB):m.8350A>G	4566	MT-TK	Likely benign	rs1603221419	RCV000850956;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8350	8350	M:g.8350A>G	-
m.8356T>C	4566	MT-TK	Pathogenic	rs118192099	RCV000010196\|RCV000010195\|RCV000850957;	Y	MedGen:C3151970\|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8356	8356	M:g.8356T>C	ClinGen:CA120554,OMIM:590060.0002	C3151970 MERRF/MELAS overlap syndrome;
NC_012920.1(MT-CYB):m.8358A>G	4566	MT-TK	Uncertain significance	rs1603221421	RCV000850958;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8358	8358	M:g.8358A>G	-
NC_012920.1(MT-CYB):m.8360A>G	4566	MT-TK	Benign	rs1603221422	RCV000850959;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8360	8360	M:g.8360A>G	-
NC_012920.1(MT-CYB):m.8362T>G	4566	MT-TK	Pathogenic	rs1603221423	RCV000850960;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8362	8362	M:g.8362T>G	-
m.8363G>A	4566	MT-TK	Pathogenic	rs118192100	RCV000010197\|RCV000144004\|RCV000192053\|RCV000850961;	Y	MedGen: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:550	M	8363	8363	M:g.8363G>A	ClinGen:CA120555,OMIM:590060.0003	C4016620 Cardiomyopathy and Deafness;
NC_012920.1(MT-CYB):m.8364A>T	4566	MT-TK	Uncertain significance	rs1603221428	RCV000850962;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	8364	8364	M:g.8364A>T	-
NC_012920.1(MT-CYB):m.3236A>G	4567	MT-TL1	Benign	rs1603218849	RCV000850686;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3236	3236	M:g.3236A>G	-
m.3242G>A	4567	MT-TL1	Pathogenic/Likely pathogenic	rs193303018	RCV000010223\|RCV000850687;	N	MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286, Orphanet:52688\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3242	3242	M:g.3242G>A	ClinGen:CA280144,OMIM:590050.0012	C3463824 614286 Myelodysplastic syndrome;
NC_012920.1(MT-CYB):m.3243A>T	4567	MT-TL1	Pathogenic	rs199474657	RCV000850688;	Y	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3243	3243	M:g.3243A>T	-
NC_012920.1(MT-CYB):m.3248G>A	4567	MT-TL1	Uncertain significance	rs879110136	RCV000850689;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3248	3248	M:g.3248G>A	-
m.3250T>C	4567	MT-TL1	Uncertain significance	rs199474664	RCV000010216\|RCV000850690;	N	MedGen:C4016617\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3250	3250	M:g.3250T>C	ClinGen:CA120563,OMIM:590050.0008	C4016617 Skeletal myopathy, responsive to riboflavin;
m.3251A>G	4567	MT-TL1	Pathogenic	rs199474662	RCV000010218\|RCV000850691;	N	MedGen:C4016616\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3251	3251	M:g.3251A>G	ClinGen:CA120565,OMIM:590050.0006	C4016616 Progressive external ophthalmoplegia, proximal myopathy, and sudden death;
m.3252A>G	4567	MT-TL1	Likely pathogenic	rs199474661	RCV000010217\|RCV000850692;	Y	MONDO:MONDO:0004675,MedGen:C0162666\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3252	3252	M:g.3252A>G	ClinGen:CA120564,OMIM:590050.0005	C0162666 Mitochondrial encephalomyopathy;
NC_012920.1(MT-CYB):m.3252A>T	4567	MT-TL1	Uncertain significance	rs199474661	RCV000850693;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3252	3252	M:g.3252A>T	-
NC_012920.1(MT-CYB):m.3254C>A	4567	MT-TL1	Benign	rs1603218855	RCV000850695;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3254	3254	M:g.3254C>A	-
NC_012920.1(MT-CYB):m.3254C>T	4567	MT-TL1	Likely benign	rs1603218855	RCV000850694;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3254	3254	M:g.3254C>T	-
NC_012920.1(MT-CYB):m.3255G>A	4567	MT-TL1	Pathogenic	rs1603218856	RCV000850696;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3255	3255	M:g.3255G>A	-
m.3256C>T	4567	MT-TL1	Pathogenic	rs199474659	RCV000010213\|RCV000010214\|RCV000850697;	Y	MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551\|MedGen:C4017627\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3256	3256	M:g.3256C>T	ClinGen:CA120561,OMIM:590050.0003	C4017627 Diabetes mellitus, noninsulin-dependent, maternally transmitted;
m.3260A>G	4567	MT-TL1	Pathogenic	rs199474663	RCV000010219\|RCV000850698;	Y	MedGen:C4016615\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3260	3260	M:g.3260A>G	ClinGen:CA120566,OMIM:590050.0007	C4016615 Cardiomyopathy with or without skeletal myopathy;
NC_012920.1(MT-CYB):m.3261A>G	4567	MT-TL1	Likely benign	rs1603218859	RCV000850699;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3261	3261	M:g.3261A>G	-
NC_012920.1(MT-CYB):m.3263C>T	4567	MT-TL1	Uncertain significance	rs1603218860	RCV000850700;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3263	3263	M:g.3263C>T	-
NC_012920.1(MT-CYB):m.3269A>G	4567	MT-TL1	Uncertain significance	rs1603218862	RCV000850701;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3269	3269	M:g.3269A>G	-
m.3271T>C	4567	MT-TL1	Pathogenic	rs199474658	RCV000010212\|RCV000507161\|RCV000763624;	Y	MONDO: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:551	M	3271	3271	M:g.3271T>C	ClinGen:CA254839,OMIM:590050.0002	C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1(MT-CYB):m.3272T>C	4567	MT-TL1	Uncertain significance	rs1603218865	RCV000850702;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3272	3272	M:g.3272T>C	-
m.3274A>G	4567	MT-TL1	Conflicting interpretations of pathogenicity	rs199474666	RCV000010221\|RCV000850703\|RCV002288480;	N	MedGen:C4016618\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551	M	3274	3274	M:g.3274A>G	ClinGen:CA120568,OMIM:590050.0010	C4016618 Neuropsychiatric disorder and early-onset cataract;
NC_012920.1(MT-CYB):m.3275C>A	4567	MT-TL1	Likely benign	rs1057516057	RCV000850705;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3275	3275	M:g.3275C>A	-
NC_012920.1(MT-CYB):m.3275C>G	4567	MT-TL1	Likely benign	rs1057516057	RCV000850704;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3275	3275	M:g.3275C>G	-
NC_012920.1(MT-CYB):m.3277G>A	4567	MT-TL1	Benign	rs386828902	RCV000850707;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3277	3277	M:g.3277G>A	-
NC_012920.1(MT-CYB):m.3278T>C	4567	MT-TL1	Benign	rs1603218868	RCV000850708;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3278	3278	M:g.3278T>C	-
NC_012920.1(MT-CYB):m.3288A>G	4567	MT-TL1	Likely pathogenic	rs1603218872	RCV000850709;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3288	3288	M:g.3288A>G	-
m.3290T>C	4567	MT-TL1	Benign	rs199474665	RCV000010220\|RCV000850710;	N	EFO:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3290	3290	M:g.3290T>C	ClinGen:CA120567,OMIM:590050.0009	C0038644 272120 SUDDEN INFANT DEATH SYNDROME;
NC_012920.1:m.3291T>C	4567	MT-TL1	Likely pathogenic	rs869312463	RCV000850711\|RCV002291215;	Y	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	M	3291	3291	M:g.3291T>C	-
NC_012920.1(MT-CYB):m.3302A>G	4567	MT-TL1	Pathogenic	rs1603218878	RCV000850712;	Y	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3302	3302	M:g.3302A>G	-
m.3303C>T	4567	MT-TL1	Pathogenic	rs199474660	RCV000010215\|RCV000850713;	Y	MedGen:C4016615\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	3303	3303	M:g.3303C>T	ClinGen:CA120562,OMIM:590050.0004	C4016615 Cardiomyopathy with or without skeletal myopathy;
NC_012920.1(MT-CYB):m.12273A>G	4568	MT-TL2	Likely benign	rs1603223644	RCV000851067;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12273	12273	M:g.12273A>G	-
NC_012920.1(MT-CYB):m.12276G>A	4568	MT-TL2	Pathogenic	rs1603223645	RCV000851068;	Y	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12276	12276	M:g.12276G>A	-
NC_012920.1(MT-CYB):m.12278T>C	4568	MT-TL2	Uncertain significance	rs1603223646	RCV000851069;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12278	12278	M:g.12278T>C	-
NC_012920.1(MT-CYB):m.12279A>G	4568	MT-TL2	Benign	rs1603223647	RCV000851070;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12279	12279	M:g.12279A>G	-
NC_012920.1(MT-CYB):m.12279A>T	4568	MT-TL2	Likely benign	rs1603223647	RCV000851071;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12279	12279	M:g.12279A>T	-
NC_012920.1(MT-CYB):m.12280A>G	4568	MT-TL2	Benign	rs1603223649	RCV000851072;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12280	12280	M:g.12280A>G	-
NC_012920.1(MT-CYB):m.12281C>T	4568	MT-TL2	Benign	rs1603223651	RCV000851073;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12281	12281	M:g.12281C>T	-
NC_012920.1(MT-CYB):m.12285T>C	4568	MT-TL2	Benign	rs386419957	RCV000851074;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12285	12285	M:g.12285T>C	-
NC_012920.1(MT-CYB):m.12291T>C	4568	MT-TL2	Uncertain significance	rs1603223653	RCV000851075;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12291	12291	M:g.12291T>C	-
NC_012920.1(MT-CYB):m.12293G>A	4568	MT-TL2	Uncertain significance	rs1603223654	RCV000851076\|RCV001090166;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	M	12293	12293	M:g.12293G>A	-
NC_012920.1(MT-CYB):m.12295T>C	4568	MT-TL2	Benign	rs1603223656	RCV000851077;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12295	12295	M:g.12295T>C	-
m.12297T>C	4568	MT-TL2	Benign	rs121434464	RCV000010205\|RCV000851078\|RCV000844938;	N	MedGen:C3532239\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MedGen:CN517202	M	12297	12297	M:g.12297T>C	ClinGen:CA120559,OMIM:590055.0003	C3532239 Cardiomyopathy, mitochondrial;
NC_012920.1(MT-CYB):m.12302C>A	4568	MT-TL2	Uncertain significance	rs1603223658	RCV000851079;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12302	12302	M:g.12302C>A	-
NC_012920.1(MT-CYB):m.12302C>T	4568	MT-TL2	Uncertain significance	rs1603223658	RCV000851080;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12302	12302	M:g.12302C>T	-
NC_012920.1(MT-CYB):m.12310dup	4568	MT-TL2	Benign	rs1603223659	RCV000851082;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12305	12306	M:g.12305_12306insA	-
NC_012920.1(MT-CYB):m.12308A>G	4568	MT-TL2	Benign	rs2853498	RCV000851081\|RCV002221590;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	M	12308	12308	M:g.12308A>G	-
NC_012920.1(MT-CYB):m.12311T>C	4568	MT-TL2	Benign	rs201754056	RCV000851083;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12311	12311	M:g.12311T>C	-
m.12315G>A	4568	MT-TL2	Pathogenic	rs121434462	RCV000010203\|RCV000851084;	Y	MONDO:MONDO:0004675,MedGen:C0162666\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12315	12315	M:g.12315G>A	ClinGen:CA120558,OMIM:590055.0001	C0162666 Mitochondrial encephalomyopathy;
NC_012920.1(MT-CYB):m.12318G>A	4568	MT-TL2	Uncertain significance	rs1603223664	RCV000851085;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12318	12318	M:g.12318G>A	-
NC_012920.1(MT-CYB):m.12335T>C	4568	MT-TL2	Likely pathogenic	rs1603223668	RCV000851086;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12335	12335	M:g.12335T>C	-
NC_012920.1(MT-CYB):m.4417A>G	4569	MT-TM	Likely benign	rs1603219452	RCV000850761;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4417	4417	M:g.4417A>G	-
NC_012920.1(MT-CYB):m.4418T>C	4569	MT-TM	Benign	rs1556422856	RCV000850762;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4418	4418	M:g.4418T>C	-
NC_012920.1(MT-CYB):m.4429G>A	4569	MT-TM	Uncertain significance	rs1603219456	RCV000850763;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4429	4429	M:g.4429G>A	-
NC_012920.1(MT-CYB):m.4435A>G	4569	MT-TM	Benign	rs878930498	RCV000850764;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4435	4435	M:g.4435A>G	-
NC_012920.1(MT-CYB):m.4437C>T	4569	MT-TM	Likely pathogenic	rs1603219459	RCV000850765;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4437	4437	M:g.4437C>T	-
NC_012920.1(MT-CYB):m.4451T>G	4569	MT-TM	Uncertain significance	rs1603219461	RCV000850766;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4451	4451	M:g.4451T>G	-
NC_012920.1(MT-CYB):m.4452T>C	4569	MT-TM	Benign	rs377043134	RCV000850767;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4452	4452	M:g.4452T>C	-
NC_012920.1(MT-CYB):m.4454T>A	4569	MT-TM	Benign	rs11510098	RCV000850769;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4454	4454	M:g.4454T>A	-
NC_012920.1(MT-CYB):m.4454T>C	4569	MT-TM	Benign	rs11510098	RCV000850768;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4454	4454	M:g.4454T>C	-
NC_012920.1(MT-CYB):m.4455A>G	4569	MT-TM	Uncertain significance	rs878986264	RCV000850770;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4455	4455	M:g.4455A>G	-
NC_012920.1(MT-CYB):m.4456C>T	4569	MT-TM	Uncertain significance	rs1603219465	RCV000850771;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4456	4456	M:g.4456C>T	-
NC_012920.1(MT-CYB):m.4464G>A	4569	MT-TM	Benign	rs1603219466	RCV000850772;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4464	4464	M:g.4464G>A	-
NC_012920.1(MT-CYB):m.4466A>G	4569	MT-TM	Uncertain significance	rs1603219467	RCV000850773;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4466	4466	M:g.4466A>G	-
NC_012920.1(MT-CYB):m.5661A>G	4570	MT-TN	Uncertain significance	rs1603220076	RCV000850824;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5661	5661	M:g.5661A>G	-
NC_012920.1(MT-CYB):m.5662C>T	4570	MT-TN	Likely benign	rs1603220078	RCV000850825;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5662	5662	M:g.5662C>T	-
NC_012920.1(MT-CYB):m.5663C>T	4570	MT-TN	Benign	rs1553139251	RCV000850826;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5663	5663	M:g.5663C>T	-
NC_012920.1(MT-CYB):m.5664A>G	4570	MT-TN	Benign	rs1603220079	RCV000850827;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5664	5664	M:g.5664A>G	-
NC_012920.1(MT-CYB):m.5665A>G	4570	MT-TN	Benign	rs1603220080	RCV000850828;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5665	5665	M:g.5665A>G	-
NC_012920.1(MT-CYB):m.5669G>A	4570	MT-TN	Uncertain significance	rs1603220083	RCV000850829;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5669	5669	M:g.5669G>A	-
NC_012920.1(MT-CYB):m.5672T>C	4570	MT-TN	Uncertain significance	rs1603220085	RCV000850830\|RCV001090134;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	M	5672	5672	M:g.5672T>C	-
NC_012920.1(MT-CYB):m.5673T>C	4570	MT-TN	Benign	rs386828975	RCV000850831;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5673	5673	M:g.5673T>C	-
NC_012920.1(MT-CYB):m.5686A>T	4570	MT-TN	Benign	rs1603220088	RCV000850832;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5686	5686	M:g.5686A>T	-
NC_012920.1(MT-CYB):m.5693T>C	4570	MT-TN	Uncertain significance	rs1603220092	RCV000850833;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5693	5693	M:g.5693T>C	-
NC_012920.1(MT-CYB):m.5705A>G	4570	MT-TN	Likely benign	rs1556423024	RCV000850834;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5705	5705	M:g.5705A>G	-
NC_012920.1(MT-CYB):m.5708C>A	4570	MT-TN	Uncertain significance	rs1603220094	RCV000850835;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5708	5708	M:g.5708C>A	-
NC_012920.1(MT-CYB):m.5711A>G	4570	MT-TN	Benign	rs2854138	RCV000850836;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5711	5711	M:g.5711A>G	-
NC_012920.1(MT-CYB):m.5715A>G	4570	MT-TN	Benign	rs1603220096	RCV000850837;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5715	5715	M:g.5715A>G	-
m.5728T>C	4570	MT-TN	Pathogenic	rs199476132	RCV000010247\|RCV000010248\|RCV000850838;	Y	\|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5728	5728	M:g.5728T>C	ClinGen:CA120585,OMIM:590010.0003	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
m.15965A>G	4571	MT-TP	Benign	rs199474700	RCV000010184\|RCV000851157;	N	MONDO:MONDO:0010796,MedGen:C1838867,OMIM:556500\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15965	15965	M:g.15965A>G	ClinGen:CA254833,OMIM:590075.0002	C1838867 556500 Parkinson disease, mitochondrial;
m.15967G>A	4571	MT-TP	Pathogenic	rs199474701	RCV000010185\|RCV000851158;	N	MedGen:C4016625\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15967	15967	M:g.15967G>A	ClinGen:CA120550,OMIM:590075.0003	C4016625 MERFF syndrome;
NC_012920.1(MT-CYB):m.15968T>C	4571	MT-TP	Benign	rs1603225617	RCV000851159;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15968	15968	M:g.15968T>C	-
NC_012920.1(MT-CYB):m.15970T>C	4571	MT-TP	Benign	rs375213730	RCV000851160;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15970	15970	M:g.15970T>C	-
NC_012920.1(MT-CYB):m.15976T>C	4571	MT-TP	Uncertain significance	rs1603225620	RCV000851161;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15976	15976	M:g.15976T>C	-
NC_012920.1(MT-CYB):m.15977C>T	4571	MT-TP	Benign	rs1556424716	RCV000851162\|RCV003128419;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MedGen:CN517202	M	15977	15977	M:g.15977C>T	-
NC_012920.1(MT-CYB):m.15978C>T	4571	MT-TP	Benign	rs201041059	RCV000851163;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15978	15978	M:g.15978C>T	-
NC_012920.1(MT-CYB):m.15983T>C	4571	MT-TP	Uncertain significance	rs1603225623	RCV000851164;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15983	15983	M:g.15983T>C	-
NC_012920.1(MT-CYB):m.15984T>C	4571	MT-TP	Uncertain significance	rs1603225624	RCV000851165;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15984	15984	M:g.15984T>C	-
NC_012920.1(MT-CYB):m.15992A>T	4571	MT-TP	Likely benign	rs1556424718	RCV000851166;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15992	15992	M:g.15992A>T	-
NC_012920.1(MT-CYB):m.15994A>G	4571	MT-TP	Uncertain significance	rs1603225627	RCV000851167;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15994	15994	M:g.15994A>G	-
NC_012920.1(MT-CYB):m.15995G>A	4571	MT-TP	Uncertain significance	rs1603225630	RCV000851168;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15995	15995	M:g.15995G>A	-
NC_012920.1(MT-CYB):m.16002T>C	4571	MT-TP	Pathogenic/Likely pathogenic	rs1603225633	RCV000851169\|RCV002249545;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551	M	16002	16002	M:g.16002T>C	-
NC_012920.1(MT-CYB):m.16003T>C	4571	MT-TP	Uncertain significance	rs1603225634	RCV000851170;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	16003	16003	M:g.16003T>C	-
NC_012920.1(MT-CYB):m.16011A>G	4571	MT-TP	Likely benign	rs1603225635	RCV000851171;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	16011	16011	M:g.16011A>G	-
NC_012920.1(MT-CYB):m.16013A>G	4571	MT-TP	Uncertain significance	rs1603225636	RCV000851172;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	16013	16013	M:g.16013A>G	-
NC_012920.1(MT-CYB):m.16018_16032dup	4571	MT-TP	Uncertain significance	rs1603225639	RCV000851174;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	16015	16016	M:g.16015_16016insATTCTCTGTTCTTTC	-
NC_012920.1(MT-CYB):m.16017T>C	4571	MT-TP	Benign	rs201864830	RCV000851173;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	16017	16017	M:g.16017T>C	-
NC_012920.1(MT-CYB):m.16021C>T	4571	MT-TP	Uncertain significance	rs1603225641	RCV000851175;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	16021	16021	M:g.16021C>T	-
m.4332G>A	4572	MT-TQ	Pathogenic	rs199476141	RCV000010240;	Y	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4332	4332	M:g.4332G>A	ClinGen:CA254844,OMIM:590030.0003	C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1(MT-CYB):m.4335C>T	4572	MT-TQ	Benign	rs878959563	RCV000850735;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4335	4335	M:g.4335C>T	-
m.4336T>C	4572	MT-TQ	Conflicting interpretations of pathogenicity	rs41456348	RCV000010239\|RCV000224964\|RCV000850736\|RCV001288305;	N	MedGen:C4016609\|MedGen:CN517202\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MedGen:CN169374	M	4336	4336	M:g.4336T>C	ClinGen:CA340926,OMIM:590030.0002	CN517202 not provided;
NC_012920.1(MT-CYB):m.4339G>A	4572	MT-TQ	Uncertain significance	rs1603219415	RCV000850737;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4339	4339	M:g.4339G>A	-
NC_012920.1(MT-CYB):m.4340A>G	4572	MT-TQ	Benign	rs1603219416	RCV000850738;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4340	4340	M:g.4340A>G	-
NC_012920.1(MT-CYB):m.4343A>G	4572	MT-TQ	Benign	rs386828939	RCV000850739;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4343	4343	M:g.4343A>G	-
NC_012920.1(MT-CYB):m.4350C>T	4572	MT-TQ	Benign	rs1603219418	RCV000850740;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4350	4350	M:g.4350C>T	-
NC_012920.1(MT-CYB):m.4353T>C	4572	MT-TQ	Benign	rs1603219419	RCV000850741;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4353	4353	M:g.4353T>C	-
NC_012920.1(MT-CYB):m.4360G>A	4572	MT-TQ	Uncertain significance	rs1603219422	RCV000850742;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4360	4360	M:g.4360G>A	-
NC_012920.1:m.4363T>C	4572	MT-TQ	Benign	rs200009705	RCV000223731\|RCV000850743;	N	MedGen:CN169374\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4363	4363	M:g.4363T>C	ClinGen:CA10581204	CN169374 not specified;
NC_012920.1(MT-CYB):m.4370T>C	4572	MT-TQ	Benign	rs1603219427	RCV000850744\|RCV000992387;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MedGen:CN517202	M	4370	4370	M:g.4370T>C	-
NC_012920.1(MT-CYB):m.4371T>C	4572	MT-TQ	Benign	rs1603219428	RCV000850745;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4371	4371	M:g.4371T>C	-
NC_012920.1(MT-CYB):m.4372C>T	4572	MT-TQ	Likely pathogenic	rs1603219429	RCV000850746;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4372	4372	M:g.4372C>T	-
NC_012920.1(MT-CYB):m.4373T>C	4572	MT-TQ	Benign	rs1603219432	RCV000850747;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4373	4373	M:g.4373T>C	-
NC_012920.1(MT-CYB):m.4375C>T	4572	MT-TQ	Likely benign	rs1603219433	RCV000850748;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4375	4375	M:g.4375C>T	-
NC_012920.1(MT-CYB):m.4381A>G	4572	MT-TQ	Benign	rs1603219434	RCV000850749;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4381	4381	M:g.4381A>G	-
NC_012920.1(MT-CYB):m.4384T>A	4572	MT-TQ	Likely benign	rs1603219436	RCV000850751;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4384	4384	M:g.4384T>A	-
NC_012920.1(MT-CYB):m.4384T>C	4572	MT-TQ	Benign	rs1603219436	RCV000850750;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4384	4384	M:g.4384T>C	-
NC_012920.1(MT-CYB):m.4385A>G	4572	MT-TQ	Likely benign	rs386828941	RCV000850753;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4385	4385	M:g.4385A>G	-
NC_012920.1(MT-CYB):m.4385A>T	4572	MT-TQ	Benign	rs386828941	RCV000850752;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4385	4385	M:g.4385A>T	-
NC_012920.1(MT-CYB):m.4386T>C	4572	MT-TQ	Benign	rs1569483940	RCV000850754;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4386	4386	M:g.4386T>C	-
NC_012920.1(MT-CYB):m.4387C>T	4572	MT-TQ	Likely benign	rs1556422854	RCV000850755;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4387	4387	M:g.4387C>T	-
NC_012920.1(MT-TQ):m.4388A>G	4572	MT-TQ	Conflicting interpretations of pathogenicity	rs375986475	RCV000224569\|RCV000850756;	N	MedGen:CN517202\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4388	4388	M:g.4388A>G	ClinGen:CA10581310	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_012920.1(MT-CYB):m.4394C>A	4572	MT-TQ	Benign	rs1603219441	RCV000850757;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4394	4394	M:g.4394C>A	-
NC_012920.1(MT-CYB):m.4395A>G	4572	MT-TQ	Benign	rs1603219443	RCV000850758;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4395	4395	M:g.4395A>G	-
NC_012920.1(MT-CYB):m.4399T>C	4572	MT-TQ	Uncertain significance	rs1603219445	RCV000850759;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4399	4399	M:g.4399T>C	-
NC_012920.1(MT-CYB):m.4400A>G	4572	MT-TQ	Uncertain significance	rs1603219449	RCV000850760;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	4400	4400	M:g.4400A>G	-
NC_012920.1(MT-CYB):m.10405T>C	4573	MT-TR	Uncertain significance	rs1603222825	RCV000850991;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10405	10405	M:g.10405T>C	-
NC_012920.1(MT-CYB):m.10406G>A	4573	MT-TR	Pathogenic/Likely pathogenic	rs1603222826	RCV000850992\|RCV002249544;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	M	10406	10406	M:g.10406G>A	-
NC_012920.1(MT-CYB):m.10408T>C	4573	MT-TR	Likely pathogenic	rs1603222827	RCV000850993;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10408	10408	M:g.10408T>C	-
NC_012920.1(MT-CYB):m.10410T>A	4573	MT-TR	Likely benign	rs200478835	RCV000850995;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10410	10410	M:g.10410T>A	-
NC_012920.1(MT-CYB):m.10410T>C	4573	MT-TR	Benign	rs200478835	RCV000850994;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10410	10410	M:g.10410T>C	-
NC_012920.1(MT-CYB):m.10411A>G	4573	MT-TR	Benign	rs1603222828	RCV000850996;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10411	10411	M:g.10411A>G	-
NC_012920.1(MT-CYB):m.10420A>G	4573	MT-TR	Benign	rs1603222829	RCV000850997;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10420	10420	M:g.10420A>G	-
NC_012920.1(MT-CYB):m.10427G>A	4573	MT-TR	Benign	rs1556423809	RCV000850998;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10427	10427	M:g.10427G>A	-
NC_012920.1(MT-CYB):m.10440T>C	4573	MT-TR	Benign	rs1603222833	RCV000850999;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10440	10440	M:g.10440T>C	-
NC_012920.1(MT-CYB):m.10446A>G	4573	MT-TR	Likely benign	rs1603222835	RCV000851000;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10446	10446	M:g.10446A>G	-
NC_012920.1(MT-CYB):m.10448T>C	4573	MT-TR	Likely benign	rs1603222836	RCV000851001;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10448	10448	M:g.10448T>C	-
NC_012920.1(MT-CYB):m.10454T>C	4573	MT-TR	Benign	rs878874133	RCV000851002;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10454	10454	M:g.10454T>C	-
NC_012920.1(MT-CYB):m.10455A>G	4573	MT-TR	Uncertain significance	rs1603222840	RCV000851003\|RCV001796796;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	M	10455	10455	M:g.10455A>G	-
NC_012920.1(MT-CYB):m.10456A>G	4573	MT-TR	Likely benign	rs1603222842	RCV000851004;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10456	10456	M:g.10456A>G	-
NC_012920.1(MT-CYB):m.10457T>C	4573	MT-TR	Uncertain significance	rs1603222845	RCV000851005;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10457	10457	M:g.10457T>C	-
NC_012920.1(MT-CYB):m.10460T>C	4573	MT-TR	Likely pathogenic	rs1603222848	RCV000851006;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10460	10460	M:g.10460T>C	-
NC_012920.1(MT-CYB):m.10462T>C	4573	MT-TR	Uncertain significance	rs1603222850	RCV000851007;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10462	10462	M:g.10462T>C	-
NC_012920.1(MT-CYB):m.10463T>C	4573	MT-TR	Benign	rs28358279	RCV000851008;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	10463	10463	M:g.10463T>C	-
NC_012920.1(MT-CYB):m.7460A>G	4574	MT-TS1	Likely benign	rs1603220969	RCV000850886;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7460	7460	M:g.7460A>G	-
NC_012920.1:m.7471dup	4574	MT-TS1	Pathogenic	rs111033319	RCV000010178\|RCV000022905\|RCV000035051\|RCV000850889\|RCV000844678\|RCV001543566\|RCV002247421;	Y	MedGen: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,Or	M	7465	7466	M:g.7465_7466insC	ClinGen:CA214937,OMIM:590080.0003	C3151897 500008 Deafness, nonsyndromic sensorineural, mitochondrial;
m.7471delC	4574	MT-TS1	Conflicting interpretations of pathogenicity	rs111033319	RCV000035052\|RCV000850891;	N	MedGen:CN169374\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7466	7466	M:g.7466_7466del	ClinGen:CA131012	CN169374 not specified;
m.7468C>T	4574	MT-TS1	Benign	rs111033173	RCV000035049\|RCV000850887\|RCV000992384;	N	MedGen:CN169374\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MedGen:CN517202	M	7468	7468	M:g.7468C>T	ClinGen:CA131010	CN169374 not specified;
NC_012920.1(MT-CYB):m.7469C>T	4574	MT-TS1	Benign	rs1603220974	RCV000850888;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7469	7469	M:g.7469C>T	-
m.7471C>T	4574	MT-TS1	Benign/Likely benign	rs397515726	RCV000035050\|RCV000850890;	N	MedGen:CN169374\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7471	7471	M:g.7471C>T	ClinGen:CA131011	CN169374 not specified;
NC_012920.1(MT-CYB):m.7471C>A	4574	MT-TS1	Likely benign	rs397515726	RCV000850892;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7471	7471	M:g.7471C>A	-
NC_012920.1:m.7472A>T	4574	MT-TS1	Benign/Likely benign	rs1556423293	RCV000608876\|RCV000850893;	N	MedGen:CN169374\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7472	7472	M:g.7472A>T	ClinGen:CA658799931	CN169374 not specified;
m.7476C>T	4574	MT-TS1	Benign	rs201950015	RCV000035053\|RCV000850894\|RCV002221482;	N	MedGen:CN169374\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	M	7476	7476	M:g.7476C>T	ClinGen:CA131013	CN169374 not specified;
NC_012920.1(MT-CYB):m.7478G>A	4574	MT-TS1	Uncertain significance	rs1603220977	RCV000850895;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7478	7478	M:g.7478G>A	-
NC_012920.1(MT-CYB):m.7479G>A	4574	MT-TS1	Uncertain significance	rs1603220980	RCV000850896;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7479	7479	M:g.7479G>A	-
NC_012920.1(MT-CYB):m.7487C>T	4574	MT-TS1	Uncertain significance	rs1603220981	RCV000850897;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7487	7487	M:g.7487C>T	-
NC_012920.1(MT-CYB):m.7490A>G	4574	MT-TS1	Benign	rs1603220984	RCV000850898;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7490	7490	M:g.7490A>G	-
m.7493C>T	4574	MT-TS1	Benign	rs397515728	RCV000035054\|RCV000850899;	N	MedGen:CN169374\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7493	7493	M:g.7493C>T	ClinGen:CA131014	CN169374 not specified;
m.7497G>A	4574	MT-TS1	Pathogenic	rs387906419	RCV000010182\|RCV000850901\|RCV002247288;	Y	MedGen:C4016627\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905	M	7497	7497	M:g.7497G>A	ClinGen:CA120548,OMIM:590080.0008	C4016627 Exercise intolerance, muscle pain, and lactic acidemia;
m.7498G>A	4574	MT-TS1	Benign	rs111033324	RCV000035055\|RCV000850902;	N	MedGen:CN169374\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7498	7498	M:g.7498G>A	ClinGen:CA131015	CN169374 not specified;
NC_012920.1(MT-CYB):m.7499C>A	4574	MT-TS1	Uncertain significance	rs1603220989	RCV000850903;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7499	7499	M:g.7499C>A	-
NC_012920.1(MT-CYB):m.7501T>C	4574	MT-TS1	Benign	rs1556423303	RCV000850904;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7501	7501	M:g.7501T>C	-
NC_012920.1:m.7502C>T	4574	MT-TS1	Conflicting interpretations of pathogenicity	rs876657868	RCV000218791\|RCV000850905;	N	MedGen:CN169374\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	7502	7502	M:g.7502C>T	ClinGen:CA10577185	CN169374 not specified;
m.7511T>C	4574	MT-TS1	Pathogenic	rs199474821	RCV000010180\|RCV000850906\|RCV002247287;	Y	MONDO: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:254905	M	7511	7511	M:g.7511T>C	ClinGen:CA340922,OMIM:590080.0005	C3151897 500008 Deafness, nonsyndromic sensorineural, mitochondrial;
m.7512T>C	4574	MT-TS1	Pathogenic/Likely pathogenic	rs199474817	RCV000010175\|RCV000010174\|RCV000850907\|RCV002247286;	N	MedGen:C4016626\|MedGen:C3151970\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905	M	7512	7512	M:g.7512T>C	ClinGen:CA120546,OMIM:590080.0001	C3151970 MERRF/MELAS overlap syndrome;
m.12207G>A	4575	MT-TS2	Pathogenic	rs118203889	RCV000010173\|RCV002247285;	N	MedGen:C3151970\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12207	12207	M:g.12207G>A	ClinGen:CA120545,OMIM:590085.0002	C3151970 MERRF/MELAS overlap syndrome;
NC_012920.1(MT-CYB):m.12213G>A	4575	MT-TS2	Uncertain significance	rs1603223616	RCV000851043;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12213	12213	M:g.12213G>A	-
NC_012920.1(MT-CYB):m.12215T>C	4575	MT-TS2	Benign	rs1603223617	RCV000851044;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12215	12215	M:g.12215T>C	-
NC_012920.1(MT-CYB):m.12216C>T	4575	MT-TS2	Benign	rs1603223618	RCV000851045;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12216	12216	M:g.12216C>T	-
NC_012920.1(MT-CYB):m.12217A>G	4575	MT-TS2	Conflicting interpretations of pathogenicity	rs1556424082	RCV000851046\|RCV001288304;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MedGen:CN517202	M	12217	12217	M:g.12217A>G	-
NC_012920.1(MT-CYB):m.12218C>A	4575	MT-TS2	Uncertain significance	rs1603223621	RCV000851047;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12218	12218	M:g.12218C>A	-
NC_012920.1(MT-CYB):m.12223A>G	4575	MT-TS2	Benign	rs1603223624	RCV000851048;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12223	12223	M:g.12223A>G	-
NC_012920.1(MT-CYB):m.12230A>G	4575	MT-TS2	Uncertain significance	rs1603223625	RCV000851049;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12230	12230	M:g.12230A>G	-
NC_012920.1(MT-CYB):m.12231C>T	4575	MT-TS2	Likely benign	rs1603223627	RCV000851050;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12231	12231	M:g.12231C>T	-
NC_012920.1(MT-CYB):m.12234A>G	4575	MT-TS2	Benign	rs1603223628	RCV000851051;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12234	12234	M:g.12234A>G	-
NC_012920.1(MT-CYB):m.12235T>C	4575	MT-TS2	Benign	rs1556424083	RCV000851052;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12235	12235	M:g.12235T>C	-
NC_012920.1(MT-TS2):m.12236G>A	4575	MT-TS2	Conflicting interpretations of pathogenicity	rs28359170	RCV000506174\|RCV000992385\|RCV000851053;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12236	12236	M:g.12236G>A	ClinGen:CA337099418	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_012920.1(MT-CYB):m.12241dup	4575	MT-TS2	Uncertain significance	rs1603223633	RCV000851057;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12236	12237	M:g.12236_12237insC	-
NC_012920.1(MT-CYB):m.12237C>T	4575	MT-TS2	Benign	rs1603223632	RCV000851054;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12237	12237	M:g.12237C>T	-
NC_012920.1(MT-CYB):m.12241del	4575	MT-TS2	Conflicting interpretations of pathogenicity	rs1603223633	RCV000851056\|RCV001250990;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|	M	12237	12237	M:g.12237_12237del	-
NC_012920.1(MT-CYB):m.12239C>T	4575	MT-TS2	Benign	rs376062400	RCV000224786\|RCV000851055\|RCV002221520;	N	MedGen:CN517202\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	M	12239	12239	m.12239C>T	ClinGen:CA10581287	CN517202 not provided;
NC_012920.1(MT-CYB):m.12245T>C	4575	MT-TS2	Benign	rs1603223634	RCV000851058;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12245	12245	M:g.12245T>C	-
NC_012920.1(MT-CYB):m.12246C>T	4575	MT-TS2	Benign	rs28508189	RCV000851059;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12246	12246	M:g.12246C>T	-
NC_012920.1(MT-CYB):m.12247T>C	4575	MT-TS2	Uncertain significance	rs1603223637	RCV000851060;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12247	12247	M:g.12247T>C	-
NC_012920.1(MT-CYB):m.12248A>G	4575	MT-TS2	Benign	rs202114991	RCV000851061;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12248	12248	M:g.12248A>G	-
NC_012920.1(MT-CYB):m.12250C>T	4575	MT-TS2	Uncertain significance	rs1603223639	RCV000851062;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12250	12250	M:g.12250C>T	-
NC_012920.1(MT-CYB):m.12255T>C	4575	MT-TS2	Uncertain significance	rs1603223640	RCV000851063;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12255	12255	M:g.12255T>C	-
NC_012920.1(MT-CYB):m.12258C>T	4575	MT-TS2	Pathogenic/Likely pathogenic	rs118203888	RCV000851064;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12258	12258	M:g.12258C>T	-
NC_012920.1(MT-CYB):m.12264C>T	4575	MT-TS2	Pathogenic/Likely pathogenic	rs1603223642	RCV000851065;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12264	12264	M:g.12264C>T	-
NC_012920.1(MT-CYB):m.12265A>G	4575	MT-TS2	Likely benign	rs1603223643	RCV000851066;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	12265	12265	M:g.12265A>G	-
NC_012920.1(MT-CYB):m.15888G>A	4576	MT-TT	Uncertain significance	rs1603225568	RCV000851104;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15888	15888	M:g.15888G>A	-
NC_012920.1(MT-CYB):m.15889T>C	4576	MT-TT	Benign	rs199833246	RCV000851105;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15889	15889	M:g.15889T>C	-
NC_012920.1(MT-CYB):m.15890C>T	4576	MT-TT	Uncertain significance	rs527236196	RCV000851106;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15890	15890	M:g.15890C>T	-
NC_012920.1(MT-CYB):m.15891C>T	4576	MT-TT	Benign	rs1556424681	RCV000851107;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15891	15891	M:g.15891C>T	-
NC_012920.1(MT-CYB):m.15892T>C	4576	MT-TT	Benign	rs1556424683	RCV000851108;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15892	15892	M:g.15892T>C	-
NC_012920.1(MT-CYB):m.15893T>C	4576	MT-TT	Likely benign	rs1603225570	RCV000851109;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15893	15893	M:g.15893T>C	-
NC_012920.1(MT-CYB):m.15894G>A	4576	MT-TT	Benign	rs1569484752	RCV000851110;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15894	15894	M:g.15894G>A	-
NC_012920.1(MT-CYB):m.15895T>C	4576	MT-TT	Likely benign	rs1603225571	RCV000851111;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15895	15895	M:g.15895T>C	-
NC_012920.1(MT-CYB):m.15897G>A	4576	MT-TT	Uncertain significance	rs1603225575	RCV000851112;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15897	15897	M:g.15897G>A	-
NC_012920.1(MT-CYB):m.15900T>C	4576	MT-TT	Benign	rs878927456	RCV000851113;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15900	15900	M:g.15900T>C	-
NC_012920.1(MT-CYB):m.15902A>G	4576	MT-TT	Benign	rs1556424685	RCV000851114;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15902	15902	M:g.15902A>G	-
NC_012920.1(MT-CYB):m.15903A>G	4576	MT-TT	Benign	rs1603225580	RCV000851115;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15903	15903	M:g.15903A>G	-
NC_012920.1(MT-CYB):m.15904C>T	4576	MT-TT	Benign	rs35788393	RCV000851116;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15904	15904	M:g.15904C>T	-
NC_012920.1(MT-CYB):m.15905T>C	4576	MT-TT	Benign	rs879126276	RCV000851117;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15905	15905	M:g.15905T>C	-
NC_012920.1(MT-CYB):m.15907A>G	4576	MT-TT	Benign	rs41383248	RCV000851118;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15907	15907	M:g.15907A>G	-
NC_012920.1(MT-CYB):m.15908T>C	4576	MT-TT	Benign	rs386829266	RCV000851119;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15908	15908	M:g.15908T>C	-
NC_012920.1(MT-CYB):m.15909A>G	4576	MT-TT	Likely benign	rs1556424690	RCV000851120\|RCV001249346;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MedGen:CN517202	M	15909	15909	M:g.15909A>G	-
NC_012920.1(MT-CYB):m.15909A>T	4576	MT-TT	Uncertain significance	rs1556424690	RCV000851121;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15909	15909	M:g.15909A>T	-
NC_012920.1(MT-CYB):m.15911A>G	4576	MT-TT	Likely benign	rs1603225583	RCV000851122;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15911	15911	M:g.15911A>G	-
NC_012920.1(MT-CYB):m.15913C>T	4576	MT-TT	Benign	rs1603225584	RCV000851123;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15913	15913	M:g.15913C>T	-
NC_012920.1(MT-CYB):m.15914A>G	4576	MT-TT	Benign	rs1603225587	RCV000851124;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15914	15914	M:g.15914A>G	-
NC_012920.1(MT-CYB):m.15915G>A	4576	MT-TT	Pathogenic	rs1603225588	RCV000851125;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15915	15915	M:g.15915G>A	-
NC_012920.1(MT-CYB):m.15916T>C	4576	MT-TT	Benign	rs1603225591	RCV000851126;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15916	15916	M:g.15916T>C	-
NC_012920.1(MT-CYB):m.15921T>C	4576	MT-TT	Uncertain significance	rs1603225593	RCV000851127;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15921	15921	M:g.15921T>C	-
NC_012920.1(MT-CYB):m.15924A>G	4576	MT-TT	Benign	rs193303001	RCV000851128;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15924	15924	M:g.15924A>G	-
NC_012920.1(MT-CYB):m.15925C>T	4576	MT-TT	Likely benign	rs1603225595	RCV000851129;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15925	15925	M:g.15925C>T	-
NC_012920.1(MT-CYB):m.15926C>T	4576	MT-TT	Benign	rs1603225597	RCV000851130;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15926	15926	M:g.15926C>T	-
NC_012920.1:m.15927G>A	4576	MT-TT	Benign	rs193303002	RCV000133441\|RCV000851131;	N	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15927	15927	m.15927G>A	ClinGen:CA270624	C0346153 114480 Familial cancer of breast;
NC_012920.1:m.15928G>A	4576	MT-TT	Benign	rs527236198	RCV000133442\|RCV000851132;	N	Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15928	15928	M:g.15928G>A	ClinGen:CA170532	C0919267 167000 Neoplasm of ovary;
NC_012920.1(MT-CYB):m.15929A>G	4576	MT-TT	Benign	rs878866272	RCV000851133;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15929	15929	M:g.15929A>G	-
NC_012920.1(MT-CYB):m.15930G>A	4576	MT-TT	Benign	rs41441949	RCV000851134;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15930	15930	M:g.15930G>A	-
NC_012920.1(MT-CYB):m.15932T>C	4576	MT-TT	Benign	rs527236199	RCV000851135;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15932	15932	M:g.15932T>C	-
NC_012920.1(MT-CYB):m.15937del	4576	MT-TT	Likely benign	rs1603225604	RCV000851139;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15934	15934	M:g.15934_15934del	-
NC_012920.1(MT-CYB):m.15935A>G	4576	MT-TT	Benign	rs1556424699	RCV000851136;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15935	15935	M:g.15935A>G	-
NC_012920.1(MT-CYB):m.15936A>G	4576	MT-TT	Likely benign	rs1556424701	RCV000851138;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15936	15936	M:g.15936A>G	-
NC_012920.1(MT-CYB):m.15936A>T	4576	MT-TT	Benign	rs1556424701	RCV000851137;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15936	15936	M:g.15936A>T	-
NC_012920.1(MT-CYB):m.15937A>G	4576	MT-TT	Benign	rs1603225605	RCV000851141;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15937	15937	M:g.15937A>G	-
NC_012920.1(MT-CYB):m.15937A>T	4576	MT-TT	Likely benign	rs1603225605	RCV000851140;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15937	15937	M:g.15937A>T	-
NC_012920.1(MT-CYB):m.15938C>T	4576	MT-TT	Benign	rs200572753	RCV000851142;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15938	15938	M:g.15938C>T	-
NC_012920.1(MT-CYB):m.15939C>T	4576	MT-TT	Benign	rs878981265	RCV000851143;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15939	15939	M:g.15939C>T	-
NC_012920.1(MT-CYB):m.15944dup	4576	MT-TT	Benign	rs1603225607	RCV000851149;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15939	15940	M:g.15939_15940insT	-
NC_012920.1(MT-CYB):m.15940T>C	4576	MT-TT	Benign	rs879197567	RCV000851144;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15940	15940	M:g.15940T>C	-
NC_012920.1(MT-CYB):m.15944del	4576	MT-TT	Benign	rs1603225607	RCV000851145;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15940	15940	M:g.15940_15940del	-
NC_012920.1(MT-CYB):m.15941T>C	4576	MT-TT	Benign	rs193303003	RCV000851146;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15941	15941	M:g.15941T>C	-
NC_012920.1(MT-CYB):m.15942T>C	4576	MT-TT	Benign	rs28535186	RCV000851147;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15942	15942	M:g.15942T>C	-
NC_012920.1:m.15943T>C	4576	MT-TT	Benign	rs527236200	RCV000133444\|RCV000851148;	N	Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15943	15943	M:g.15943T>C	ClinGen:CA170534	C0919267 167000 Neoplasm of ovary;
NC_012920.1(MT-CYB):m.15944T>C	4576	MT-TT	Likely benign	rs1603225608	RCV000851150;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15944	15944	M:g.15944T>C	-
NC_012920.1(MT-CYB):m.15946C>T	4576	MT-TT	Benign	rs202014122	RCV000851151;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15946	15946	M:g.15946C>T	-
NC_012920.1(MT-CYB):m.15947A>G	4576	MT-TT	Benign	rs1556424708	RCV000851152;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15947	15947	M:g.15947A>G	-
NC_012920.1(MT-CYB):m.15949G>A	4576	MT-TT	Benign	rs1603225611	RCV000851153;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15949	15949	M:g.15949G>A	-
m.15950G>A	4576	MT-TT	Uncertain significance	rs118203890	RCV000010169\|RCV000851154;	N	MONDO:MONDO:0010796,MedGen:C1838867,OMIM:556500\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15950	15950	M:g.15950G>A	ClinGen:CA254832,OMIM:590090.0001	C1838867 556500 Parkinson disease, mitochondrial;
NC_012920.1(MT-CYB):m.15951A>G	4576	MT-TT	Benign	rs199993959	RCV000851155;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15951	15951	M:g.15951A>G	-
NC_012920.1(MT-CYB):m.15952C>T	4576	MT-TT	Likely benign	rs1603225613	RCV000851156;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	15952	15952	M:g.15952C>T	-
m.1606G>A	4577	MT-TV	Uncertain significance	rs199476143	RCV000010156\|RCV000850660\|RCV002260583;	Y	MedGen:C4016634\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	M	1606	1606	M:g.1606G>A	ClinGen:CA120536,OMIM:590105.0001	C4016634 Ataxia, progressive seizures, mental deterioration, and hearing loss;
NC_012920.1(MT-CYB):m.1607T>C	4577	MT-TV	Benign	rs1603218581	RCV000850661;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1607	1607	M:g.1607T>C	-
NC_012920.1(MT-CYB):m.1608G>A	4577	MT-TV	Uncertain significance	rs1603218582	RCV000850662;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1608	1608	M:g.1608G>A	-
NC_012920.1(MT-ND1):m.1616A>G	4577	MT-TV	Uncertain significance	-1	RCV001785374;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1616	1616	1616	-
NC_012920.1(MT-CYB):m.1617C>T	4577	MT-TV	Likely benign	rs1603218583	RCV000850663;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1617	1617	M:g.1617C>T	-
NC_012920.1(MT-CYB):m.1618A>G	4577	MT-TV	Likely benign	rs1603218584	RCV000850664;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1618	1618	M:g.1618A>G	-
NC_012920.1(MT-CYB):m.1619C>T	4577	MT-TV	Conflicting interpretations of pathogenicity	rs1569483811	RCV000756364\|RCV000850665;	N	MedGen:CN517202\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1619	1619	m.1619C>T	-
NC_012920.1(MT-CYB):m.1619_1620insT	4577	MT-TV	Uncertain significance	rs1603218585	RCV000850666;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1619	1620	M:g.1619_1620insT	-
m.1624C>T	4577	MT-TV	Pathogenic/Likely pathogenic	rs199476144	RCV000010157\|RCV000010158\|RCV000850667;	N	Human 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:550	M	1624	1624	M:g.1624C>T	ClinGen:CA120537,OMIM:590105.0002	C0023264 256000 Leigh syndrome;
NC_012920.1(MT-CYB):m.1628C>T	4577	MT-TV	Likely benign	rs1603218586	RCV000850668;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1628	1628	M:g.1628C>T	-
NC_012920.1(MT-CYB):m.1629A>G	4577	MT-TV	Uncertain significance	rs1603218587	RCV000850669;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1629	1629	M:g.1629A>G	-
NC_012920.1(MT-CYB):m.1630A>G	4577	MT-TV	Pathogenic/Likely pathogenic	rs1603218588	RCV000850670;	Y	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1630	1630	M:g.1630A>G	-
NC_012920.1(MT-CYB):m.1631C>T	4577	MT-TV	Uncertain significance	rs1603218590	RCV000850671;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1631	1631	M:g.1631C>T	-
NC_012920.1(MT-CYB):m.1636A>G	4577	MT-TV	Uncertain significance	rs1603218591	RCV000850672;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1636	1636	M:g.1636A>G	-
NC_012920.1(MT-CYB):m.1638T>C	4577	MT-TV	Uncertain significance	rs1603218592	RCV000850673;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1638	1638	M:g.1638T>C	-
NC_012920.1(MT-CYB):m.1640A>G	4577	MT-TV	Likely benign	rs1603218594	RCV000850674;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1640	1640	M:g.1640A>G	-
NC_012920.1(MT-CYB):m.1641G>A	4577	MT-TV	Uncertain significance	rs28416113	RCV000850675;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1641	1641	M:g.1641G>A	-
NC_012920.1(MT-CYB):m.1643A>G	4577	MT-TV	Uncertain significance	rs1603218595	RCV000850676\|RCV000844998;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MedGen:CN517202	M	1643	1643	M:g.1643A>G	-
NC_012920.1(MT-CYB):m.1644G>A	4577	MT-TV	Likely pathogenic	rs587776441	RCV000850677\|RCV001796793;	Y	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	M	1644	1644	M:g.1644G>A	-
NC_012920.1(MT-CYB):m.1646T>C	4577	MT-TV	Benign	rs1603218598	RCV000850678;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1646	1646	M:g.1646T>C	-
NC_012920.1(MT-CYB):m.1654T>C	4577	MT-TV	Uncertain significance	rs1603218602	RCV000850679;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1654	1654	M:g.1654T>C	-
NC_012920.1(MT-CYB):m.1656del	4577	MT-TV	Likely benign	rs1603218604	RCV000850680;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1655	1655	M:g.1655_1655del	-
NC_012920.1(MT-CYB):m.1657C>T	4577	MT-TV	Benign	rs1603218606	RCV000850681;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1657	1657	M:g.1657C>T	-
NC_012920.1(MT-CYB):m.1658T>C	4577	MT-TV	Uncertain significance	rs1603218607	RCV000850682;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1658	1658	M:g.1658T>C	-
NC_012920.1(MT-CYB):m.1659T>C	4577	MT-TV	Pathogenic/Likely pathogenic	rs1603218609	RCV000850683;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1659	1659	M:g.1659T>C	-
NC_012920.1(MT-CYB):m.1664G>A	4577	MT-TV	Benign	rs200807305	RCV000850684;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1664	1664	M:g.1664G>A	-
NC_012920.1(MT-CYB):m.1670A>T	4577	MT-TV	Benign	rs1603218611	RCV000850685;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	1670	1670	M:g.1670A>T	-
NC_012920.1(MT-CYB):m.5514A>G	4578	MT-TW	Benign	rs1603219997	RCV000850774;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5514	5514	M:g.5514A>G	-
NC_012920.1(MT-CYB):m.5515A>G	4578	MT-TW	Benign	rs1603220000	RCV000850775;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5515	5515	M:g.5515A>G	-
NC_012920.1(MT-CYB):m.5516A>G	4578	MT-TW	Likely benign	rs1603220001	RCV000850776;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5516	5516	M:g.5516A>G	-
m.5521G>A	4578	MT-TW	Likely pathogenic	rs199474673	RCV000010166\|RCV000850777\|RCV002291209;	Y	Human 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:68380	M	5521	5521	M:g.5521G>A	ClinGen:CA254831,OMIM:590095.0003	C0162670 251900 Mitochondrial myopathy;
NC_012920.1(MT-CYB):m.5524T>C	4578	MT-TW	Uncertain significance	rs1603220004	RCV000850778;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5524	5524	M:g.5524T>C	-
NC_012920.1(MT-CYB):m.5527A>G	4578	MT-TW	Benign	rs1603220005	RCV000850779;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5527	5527	M:g.5527A>G	-
NC_012920.1(MT-CYB):m.5528T>C	4578	MT-TW	Benign	rs1556423004	RCV000850780;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5528	5528	M:g.5528T>C	-
NC_012920.1(MT-CYB):m.5530C>T	4578	MT-TW	Benign	rs1603220009	RCV000850781;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5530	5530	M:g.5530C>T	-
m.5532G>A	4578	MT-TW	Pathogenic	rs199474674	RCV000010167\|RCV002247284;	N	MedGen:C4016629\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5532	5532	M:g.5532G>A	ClinGen:CA120542,OMIM:590095.0004	C4016629 Neurogastrointestinal syndrome, mitochondrial;
NC_012920.1(MT-CYB):m.5536_5537insT	4578	MT-TW	Pathogenic	rs1603220010	RCV000850782;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5536	5537	M:g.5536_5537insT	-
NC_012920.1(MT-CYB):m.5538G>A	4578	MT-TW	Uncertain significance	rs1603220012	RCV000850783\|RCV001796794;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	M	5538	5538	M:g.5538G>A	-
NC_012920.1(MT-CYB):m.5539A>G	4578	MT-TW	Benign	rs1603220013	RCV000850784;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5539	5539	M:g.5539A>G	-
NC_012920.1(MT-CYB):m.5539A>T	4578	MT-TW	Likely benign	rs1603220013	RCV000850785;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5539	5539	M:g.5539A>T	-
NC_012920.1(MT-CYB):m.5540G>A	4578	MT-TW	Pathogenic	rs1603220014	RCV000850786;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5540	5540	M:g.5540G>A	-
NC_012920.1(MT-CYB):m.5542C>T	4578	MT-TW	Uncertain significance	rs1603220015	RCV000850787;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5542	5542	M:g.5542C>T	-
NC_012920.1(MT-CYB):m.5543T>C	4578	MT-TW	Pathogenic	rs1603220016	RCV000850788;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5543	5543	M:g.5543T>C	-
NC_012920.1(MT-CYB):m.5544T>C	4578	MT-TW	Uncertain significance	rs1603220018	RCV000850789;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5544	5544	M:g.5544T>C	-
NC_012920.1(MT-CYB):m.5550C>T	4578	MT-TW	Uncertain significance	rs1603220019	RCV000850790;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5550	5550	M:g.5550C>T	-
NC_012920.1(MT-CYB):m.5553T>C	4578	MT-TW	Benign/Likely benign	rs878853053	RCV000224132\|RCV000850792;	N	MedGen:CN517202\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5553	5553	m.5553T>C	ClinGen:CA10581333	CN517202 not provided;
NC_012920.1(MT-CYB):m.5553T>G	4578	MT-TW	Likely benign	rs878853053	RCV000850791;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5553	5553	M:g.5553T>G	-
NC_012920.1(MT-CYB):m.5554C>A	4578	MT-TW	Benign	rs1603220020	RCV000850793;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5554	5554	M:g.5554C>A	-
NC_012920.1(MT-CYB):m.5557T>C	4578	MT-TW	Benign	rs1603220022	RCV000850794;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5557	5557	M:g.5557T>C	-
NC_012920.1(MT-CYB):m.5558A>G	4578	MT-TW	Uncertain significance	rs370471013	RCV000850795\|RCV001796795;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	M	5558	5558	M:g.5558A>G	-
NC_012920.1:m.5559A>G	4578	MT-TW	Uncertain significance	rs1556423008	RCV000144003\|RCV000850796;	N	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5559	5559	M:g.5559A>G	ClinGen:CA345913	C0023264 256000 Leigh syndrome;
NC_012920.1(MT-CYB):m.5560G>A	4578	MT-TW	Uncertain significance	rs1603220026	RCV000850797;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5560	5560	M:g.5560G>A	-
NC_012920.1:m.5561T>C	4578	MT-TW	Likely benign	rs1556423009	RCV000509505\|RCV000850798;	N	MedGen:CN517202\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5561	5561	M:g.5561T>C	ClinGen:CA658653720	CN517202 not provided;
NC_012920.1(MT-CYB):m.5563G>A	4578	MT-TW	Benign	rs1603220027	RCV000850799;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5563	5563	M:g.5563G>A	-
NC_012920.1(MT-CYB):m.5566A>G	4578	MT-TW	Likely benign	rs1603220029	RCV000850800;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5566	5566	M:g.5566A>G	-
NC_012920.1(MT-CYB):m.5567T>C	4578	MT-TW	Benign	rs1603220030	RCV000850801;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5567	5567	M:g.5567T>C	-
NC_012920.1(MT-CYB):m.5568A>G	4578	MT-TW	Benign	rs200719361	RCV000850802;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5568	5568	M:g.5568A>G	-
NC_012920.1(MT-CYB):m.5573A>G	4578	MT-TW	Uncertain significance	rs1603220033	RCV000850803;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5573	5573	M:g.5573A>G	-
NC_012920.1(MT-CYB):m.5575T>C	4578	MT-TW	Uncertain significance	rs1603220034	RCV000850804\|RCV001175285;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MedGen:CN517202	M	5575	5575	M:g.5575T>C	-
NC_012920.1(MT-CYB):m.5836A>G	4579	MT-TY	Benign	rs386828979	RCV000850867;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5836	5836	M:g.5836A>G	-
NC_012920.1(MT-CYB):m.5837G>A	4579	MT-TY	Uncertain significance	rs1603220147	RCV000850868;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5837	5837	M:g.5837G>A	-
NC_012920.1(MT-CYB):m.5839C>T	4579	MT-TY	Benign	rs1603220148	RCV000850869;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5839	5839	M:g.5839C>T	-
NC_012920.1(MT-CYB):m.5840C>A	4579	MT-TY	Uncertain significance	rs1603220149	RCV000850870;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5840	5840	M:g.5840C>A	-
NC_012920.1(MT-CYB):m.5840C>T	4579	MT-TY	Likely benign	rs1603220149	RCV000850871;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5840	5840	M:g.5840C>T	-
NC_012920.1(MT-CYB):m.5841T>C	4579	MT-TY	Uncertain significance	rs1603220150	RCV000850872;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5841	5841	M:g.5841T>C	-
m.5843A>G	4579	MT-TY	Benign	rs118203894	RCV000010162\|RCV000850873;	N	MedGen:C4016633\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5843	5843	M:g.5843A>G	ClinGen:CA120539,OMIM:590100.0004	C4016633 Focal segmental glomerulosclerosis and dilated cardiomyopathy;
NC_012920.1(MT-CYB):m.5846C>T	4579	MT-TY	Benign	rs1603220152	RCV000850874;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5846	5846	M:g.5846C>T	-
NC_012920.1(MT-CYB):m.5852T>C	4579	MT-TY	Uncertain significance	rs1603220153	RCV000850875;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5852	5852	M:g.5852T>C	-
NC_012920.1(MT-CYB):m.5855A>G	4579	MT-TY	Likely benign	rs1603220155	RCV000850876;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5855	5855	M:g.5855A>G	-
NC_012920.1(MT-CYB):m.5858T>C	4579	MT-TY	Uncertain significance	rs1603220157	RCV000850877;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5858	5858	M:g.5858T>C	-
NC_012920.1(MT-CYB):m.5864G>A	4579	MT-TY	Uncertain significance	rs1603220158	RCV000850878;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5864	5864	M:g.5864G>A	-
NC_012920.1(MT-CYB):m.5865T>C	4579	MT-TY	Uncertain significance	rs1603220159	RCV000850879;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5865	5865	M:g.5865T>C	-
NC_012920.1(MT-CYB):m.5867C>T	4579	MT-TY	Likely benign	rs1603220160	RCV000850880;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5867	5867	M:g.5867C>T	-
NC_012920.1(MT-CYB):m.5875C>T	4579	MT-TY	Likely benign	rs1603220162	RCV000850881;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5875	5875	M:g.5875C>T	-
NC_012920.1(MT-CYB):m.5876A>G	4579	MT-TY	Likely benign	rs1603220163	RCV000850882;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5876	5876	M:g.5876A>G	-
NC_012920.1(MT-CYB):m.5885T>C	4579	MT-TY	Uncertain significance	rs1603220164	RCV000850883\|RCV001198827;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|	M	5885	5885	M:g.5885T>C	-
NC_012920.1(MT-CYB):m.5889A>G	4579	MT-TY	Uncertain significance	rs1603220167	RCV000850884;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	M	5889	5889	M:g.5889A>G	-
NM_005006.7(NDUFS1):c.758T>G (p.Val253Gly)	4719	NDUFS1	Likely pathogenic	rs786205666	RCV000170569;	N	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	2	207009730	207009730	2:g.207009730A>C	ClinGen:CA274773	C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NM_002693.3(POLG):c.895A>G (p.Met299Val)	5428	POLG	Uncertain significance	-1	RCV001774254\|RCV001868571\|RCV002290748;	N	MedGen:CN517202\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	15	89872302	89872302	89872302	-

MSeqDR Portal

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Description	Disease id
ENSG00000198888	MT-ND1	1	3	7	mitochondrially encoded NADH dehydrogenase 1 [Source:HGNC Symbol;Acc:7455]	00163
ENSG00000198886	MT-ND4	1	1	1	mitochondrially encoded NADH dehydrogenase 4 [Source:HGNC Symbol;Acc:7459]	00163
ENSG00000198786	MT-ND5	1	5	11	mitochondrially encoded NADH dehydrogenase 5 [Source:HGNC Symbol;Acc:7461]	00163
ENSG00000198695	MT-ND6	1	1	2	mitochondrially encoded NADH dehydrogenase 6 [Source:HGNC Symbol;Acc:7462]	00163
ENSG00000210140	MT-TC	1	1	29	mitochondrially encoded tRNA cysteine [Source:HGNC Symbol;Acc:7477]	00163
ENSG00000210049	MT-TF	1	1	31	mitochondrially encoded tRNA phenylalanine [Source:HGNC Symbol;Acc:7481]	00163
ENSG00000210176	MT-TH	1	0	34	mitochondrially encoded tRNA histidine [Source:HGNC Symbol;Acc:7487]	00163
ENSG00000210156	MT-TK	1	0	27	mitochondrially encoded tRNA lysine [Source:HGNC Symbol;Acc:7489]	00163
ENSG00000209082	MT-TL1	1	4	28	mitochondrially encoded tRNA leucine 1 (UUA/G) [Source:HGNC Symbol;Acc:7490]	00163
ENSG00000210107	MT-TQ	1	1	27	mitochondrially encoded tRNA glutamine [Source:HGNC Symbol;Acc:7495]	00163
ENSG00000210151	MT-TS1	1	0	21	mitochondrially encoded tRNA serine 1 (UCN) [Source:HGNC Symbol;Acc:7497]	00163
ENSG00000210184	MT-TS2	1	0	25	mitochondrially encoded tRNA serine 2 (AGU/C) [Source:HGNC Symbol;Acc:7498]	00163

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