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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: Mitochondrial Diseases (D028361)
Parent Node: Optic Atrophies, Hereditary (D015418)
..Starting node ..Optic Atrophy, Hereditary, Leber (D029242)
Child Nodes:
........Marsden syndrome (C536024)
Sister Nodes:
..Berk-Tabatznik syndrome (C535432)
..Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy (C535642)
..Hagemoser Weinstein Bresnick syndrome (C537626)
..Konigsmark Knox Hussels syndrome (C537214)
..Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530)
..Optic atrophy 1 and deafness (C537124) L: 00657;
..OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES (OMIM:616732)
..OPTIC ATROPHY 11 (OMIM:617302)
..OPTIC ATROPHY 2 (OMIM:311050)
..Optic Atrophy 4 (C565343)
..Optic atrophy 5 (C537126)
..Optic atrophy 6 (C537127)
..Optic Atrophy 7 (C567833)
..OPTIC ATROPHY 9 (OMIM:616289)
..Optic atrophy and cataract, autosomal dominant (C537128)
..Optic atrophy polyneuropathy deafness (C537129)
..Optic Atrophy Spastic Paraplegia Syndrome (C564084)
..Optic Atrophy with Demyelinating Disease of CNS (C563496)
..Optic Atrophy with Negative Electroretinograms (C563494)
..Optic Atrophy, Autosomal Dominant (D029241) L: 00073;
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Optic Atrophy, Hereditary, Leber (D029242) 1 L: 00072; 00492;
..Senior Loken Syndrome (C537580)
..Senior-Loken Syndrome 3 (C564637)
..Senior-Loken Syndrome 5 (C563763)
..Senior-Loken Syndrome 6 (C565708)
..Spastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..Wolfram Syndrome (D014929) 1
..Wolfram Syndrome, Mitochondrial Form (C564012)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9153

Name:

Optic Atrophy, Hereditary, Leber

Definition:

A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))

Alternative IDs:

DO:DOID:705|OMIM:308905|OMIM:535000

ParentIDs:

MESH:D015418|MESH:D028361

TreeNumbers:

C10.292.700.225.500.400 |C10.574.500.662.400 |C11.270.564.400 |C11.640.451.451.400 |C16.320.290.564.400 |C16.320.400.630.400 |C18.452.660.670

Synonyms:

Slim Mappings:

Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: D029242
MeSH: D029242
OMIM: 53500;
MSeqDR : 00072; 00492;
Genes:

Phenotypes

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.8686T>C	4508	MT-ATP6	Uncertain significance	1569484231	RCV000709918\|RCV000854289;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104; MONDO:MONDO:0010794,MedGen:C1328349,OMIM:551500, Orphanet:644; MedGen:CN043634\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:25	M	8686	8686	m.8686T>C	-
NC_012920.1(MT-ATP6):m.8783G>A	4508	MT-ATP6	Pathogenic/Likely pathogenic	1603221804	RCV000854322\|RCV002249549;	N	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:104	M	8783	8783	M:g.8783G>A	-
NC_012920.1:m.8851T>C	4508	MT-ATP6	Uncertain significance	199476136	RCV000010280\|RCV000144005\|RCV001268336\|RCV001542705\|RCV002221472;	Y	MONDO:MONDO:0010774,MedGen:C1839022,OMIM:500003\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet	M	8851	8851	M:g.8851T>C	ClinGen:CA120598,OMIM:516060.0006	C0023264 256000 Leigh syndrome;
NC_012920.1:m.8969G>A	4508	MT-ATP6	Likely pathogenic	794726857	RCV000171545\|RCV000854381\|RCV002247579\|RCV002260628;	Y	MONDO:MONDO:0010782,MedGen:C4225415,OMIM:500011, Orphanet:2598\|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:1	M	8969	8969	m.8969G>A	ClinGen:CA199769,OMIM:516060.0012	C4225415 500011 Myopathy, lactic acidosis, and sideroblastic anemia 3;
m.9101T>C	4508	MT-ATP6	Benign	199476134	RCV000010277\|RCV000854439;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	9101	9101	M:g.9101T>C	ClinGen:CA340927,OMIM:516060.0003	C0917796 535000 Leber's optic atrophy;
NC_012920.1:m.9176T>G	4508	MT-ATP6	Likely pathogenic	199476135	RCV000010285\|RCV000754649\|RCV001542708\|RCV001543462\|RCV002221473;	Y	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0027069,MedGen:C3275684,OMIM:500015\|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MedGen:C366	M	9176	9176	M:g.9176T>G	ClinGen:CA340929,OMIM:516060.0011	C0023264 256000 Leigh syndrome;
NC_012920.1:m.9205_9206del	-1	MT-ATP6;MT-CO3	Likely pathogenic	199476137	RCV000010281\|RCV002247301\|RCV002260586;	Y	MedGen:C4016603\|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380	M	9204	9205	M:g.9204_9205del	ClinGen:CA120599,OMIM:516050.0007,OMIM:516060.0007	C4016603 Seizures and lactic acidosis;
NC_012920.1:m.7444G>A	-1	MT-CO1;MT-TS1	Likely benign	199474822	RCV000010299\|RCV000010301\|RCV000010300\|RCV000854073\|RCV001268422\|RCV003319164;	Y	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0010779,MedGen:C3151897,OMIM:500008, Orphanet:90641\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:	M	7444	7444	M:g.7444G>A	ClinGen:CA254851,OMIM:516030.0001,OMIM:590080.0006	C1838854 580000 Aminoglycoside-induced deafness;
NC_012920.1:m.9237G>A	4514	MT-CO3	Pathogenic	1057516064	RCV000408945\|RCV002248640;	N	MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544; Human Phenotype Ontology:HP:0006789,MedGen:C1852373; MedGen:C0424605\|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104	M	9237	9237	M:g.9237G>A	ClinGen:CA16040652	C0424605 Developmental delay;
m.9438G>A	4514	MT-CO3	Benign	267606611	RCV000010286\|RCV000854514;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	9438	9438	M:g.9438G>A	ClinGen:CA254850,OMIM:516050.0001	C0917796 535000 Leber's optic atrophy;
m.9804G>A	4514	MT-CO3	Conflicting interpretations of pathogenicity	200613617	RCV000010287\|RCV000756352\|RCV000854582\|RCV001196020;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MedGen:CN517202\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|	M	9804	9804	M:g.9804G>A	ClinGen:CA340930,OMIM:516050.0002	C0917796 535000 Leber's optic atrophy;
NC_012920.1(MT-CYB):m.14795T>C	4519	MT-CYB	Uncertain significance	1603224896	RCV000855158\|RCV002287449;	N	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:104	M	14795	14795	M:g.14795T>C	-
m.14831G>A	4519	MT-CYB	Benign	199795644	RCV000055706\|RCV000855165;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	14831	14831	M:g.14831G>A	ClinGen:CA344826	C0917796 535000 Leber's optic atrophy;
m.15150G>A	4519	MT-CYB	Pathogenic	207460000	RCV000010319\|RCV000855232\|RCV002247305;	N	Human Phenotype Ontology:HP:0003546,MedGen:C0424551\|MONDO:MONDO:0010780,MedGen:C3151898,OMIM:500009, Orphanet:254864\|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104	M	15150	15150	M:g.15150G>A	ClinGen:CA120619,OMIM:516020.0008	C0424551 Exercise intolerance;
m.15257G>A	4519	MT-CYB	Benign	41518645	RCV000010312\|RCV000855257;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	15257	15257	M:g.15257G>A	ClinGen:CA340931,OMIM:516020.0001	C0917796 535000 Leber's optic atrophy;
NC_012920.1(MT-CYB):m.15437G>A	4519	MT-CYB	Uncertain significance	878853058	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;
m.15579A>G	4519	MT-CYB	Uncertain significance	207460002	RCV000010321\|RCV000855325\|RCV002247306\|RCV003153301;	Y	MedGen:C0559758\|MONDO:MONDO:0010780,MedGen:C3151898,OMIM:500009, Orphanet:254864\|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0044970,MeSH:D028361,MedGen:	M	15579	15579	M:g.15579A>G	ClinGen:CA120621,OMIM:516020.0010	C0559758 Multisystem disorder;
m.15812G>A	4519	MT-CYB	Benign	200336777	RCV000010313\|RCV000855379;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	15812	15812	M:g.15812G>A	ClinGen:CA254852,OMIM:516020.0002	C0917796 535000 Leber's optic atrophy;
m.3376G>A	4535	MT-ND1	Uncertain significance	397515612	RCV000056167\|RCV002260605;	Y	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380	M	3376	3376	M:g.3376G>A	ClinGen:CA345259	C0917796 535000 Leber's optic atrophy;
m.3394T>C	4535	MT-ND1	Conflicting interpretations of pathogenicity	41460449	RCV000010375\|RCV000507319\|RCV000853650;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MedGen:CN517202\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	3394	3394	M:g.3394T>C	ClinGen:CA340944,OMIM:516000.0004	C0917796 535000 Leber's optic atrophy;
NC_012920.1:m.3460G>A	4535	MT-ND1	Pathogenic	199476118	RCV000010370\|RCV000143998\|RCV000735416\|RCV000757484\|RCV003319165;	Y	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|\|MedGen:C3661900\|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0	M	3460	3460	M:g.3460G>A	ClinGen:CA120646,OMIM:516000.0001	C0917796 535000 Leber's optic atrophy;
m.3635G>A	4535	MT-ND1	Likely pathogenic	397515507	RCV000055707\|RCV002291214;	Y	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380	M	3635	3635	M:g.3635G>A	ClinGen:CA344827	C0917796 535000 Leber's optic atrophy;
m.3697G>A	4535	MT-ND1	Likely pathogenic	199476122	RCV000010385\|RCV000010386\|RCV000056168\|RCV002221474\|RCV003298030;	Y	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0010772,MedGen:C1839040,OMIM:500001, Orphanet:99718\|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.3700G>A	4535	MT-ND1	Uncertain significance	397515508	RCV000055708\|RCV000415448\|RCV002221484;	Y	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|Human Phenotype Ontology:HP:0000512,Human Phenotype Ontology:HP:0003285,MedGen:C0476397; Human Phenotype Ontology:HP:0001	M	3700	3700	M:g.3700G>A	ClinGen:CA344828	C1849688 Abnormal electroretinogram;
m.3733G>A	4535	MT-ND1	Uncertain significance	199476125	RCV000010389\|RCV002221475;	Y	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380	M	3733	3733	M:g.3733G>A	ClinGen:CA340950,OMIM:516000.0015	C0917796 535000 Leber's optic atrophy;
m.3946G>A	4535	MT-ND1	Pathogenic/Likely pathogenic	199476123	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.4025C>T	4535	MT-ND1	Benign	397515509	RCV000055709\|RCV000853724;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	4025	4025	M:g.4025C>T	ClinGen:CA344829	C0917796 535000 Leber's optic atrophy;
m.4136A>G	4535	MT-ND1	Benign	199476121	RCV000010378\|RCV000853739;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	4136	4136	M:g.4136A>G	ClinGen:CA254860,OMIM:516000.0006	C0917796 535000 Leber's optic atrophy;
m.4160T>C	4535	MT-ND1	Pathogenic	199476119	RCV000010372;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104	M	4160	4160	M:g.4160T>C	ClinGen:CA340942,OMIM:516000.0002	C0917796 535000 Leber's optic atrophy;
m.4171C>A	4535	MT-ND1	Uncertain significance	28616230	RCV000010384\|RCV002260596;	Y	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380	M	4171	4171	M:g.4171C>A	ClinGen:CA340948,OMIM:516000.0010	C0917796 535000 Leber's optic atrophy;
m.4216T>C	4535	MT-ND1	Benign	1599988	RCV000010373\|RCV000709875\|RCV000853749;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MedGen:CN517202\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	4216	4216	M:g.4216T>C	ClinGen:CA340943,OMIM:516000.0003	C0917796 535000 Leber's optic atrophy;
m.4640C>A	4536	MT-ND2	Benign	387906426	RCV000010366\|RCV000853787;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	4640	4640	M:g.4640C>A	ClinGen:CA340941,OMIM:516001.0003	C0917796 535000 Leber's optic atrophy;
m.4917A>G	4536	MT-ND2	Benign	28357980	RCV000010364\|RCV000853834;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	4917	4917	M:g.4917A>G	OMIM:516001.0001,ClinGen:CA254858	C0917796 535000 Leber's optic atrophy;
m.5244G>A	4536	MT-ND2	Pathogenic	199476115	RCV000010365;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104	M	5244	5244	M:g.5244G>A	ClinGen:CA340940,OMIM:516001.0002	C0917796 535000 Leber's optic atrophy;
m.10237T>C	4537	MT-ND3	Benign	1556423787	RCV000055695\|RCV000854632;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	10237	10237	M:g.10237T>C	ClinGen:CA344819	C0917796 535000 Leber's optic atrophy;
m.11253T>C	4538	MT-ND4	Benign	200145866	RCV000055696\|RCV000854721;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	11253	11253	M:g.11253T>C	ClinGen:CA344820	C0917796 535000 Leber's optic atrophy;
m.11696G>A	4538	MT-ND4	Benign	200873900	RCV000010356\|RCV000055697\|RCV000854742;	N	MONDO:MONDO:0010772,MedGen:C1839040,OMIM:500001, Orphanet:99718\|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:	M	11696	11696	M:g.11696G>A	ClinGen:CA120635,OMIM:516003.0003	C1839040 500001 Leber hereditary optic neuropathy with dystonia;
m.11777C>A	4538	MT-ND4	Likely pathogenic	28384199	RCV000010357\|RCV000144013\|RCV000854746\|RCV002260594;	Y	MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609\|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:104\|MONDO:MON	M	11777	11777	M:g.11777C>A	ClinGen:CA120636,OMIM:516003.0004	C0023264 256000 Leigh syndrome;
NC_012920.1:m.11778G>A	4538	MT-ND4	Pathogenic	199476112	RCV000010354\|RCV000224219\|RCV002260593\|RCV002285007\|RCV002288481;	Y	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MedGen:C3661900\|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380\|MedGen:CN169374\|MONDO:MONDO:0010640,MedG	M	11778	11778	M:g.11778G>A	ClinGen:CA340939,OMIM:516003.0001	C0917796 535000 Leber's optic atrophy;
m.10663T>C	4539	MT-ND4L	Likely pathogenic	1556423844	RCV000010353\|RCV003153302;	Y	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380	M	10663	10663	M:g.10663T>C	ClinGen:CA340938,OMIM:516004.0002	C0917796 535000 Leber's optic atrophy;
m.12338T>C	4540	MT-ND5	Benign	201863060	RCV000022893\|RCV000854787;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	12338	12338	M:g.12338T>C	ClinGen:CA259737,OMIM:516005.0011	C0917796 535000 Leber's optic atrophy;
NC_012920.1(MT-ND5):m.12425del	4540	MT-ND5	Pathogenic	1603223730	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.12706T>C	4540	MT-ND5	Likely pathogenic	267606893	RCV000010338\|RCV000144015\|RCV002247308\|RCV002260591;	Y	MedGen:C1838951\|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:104\|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C07	M	12706	12706	M:g.12706T>C	ClinGen:CA120628,OMIM:516005.0003	C0023264 256000 Leigh syndrome;
m.12811T>C	4540	MT-ND5	Benign	199974018	RCV000055698\|RCV000507393\|RCV000854857\|RCV003319177;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MedGen:C3661900\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C07	M	12811	12811	M:g.12811T>C	ClinGen:CA344821	C0917796 535000 Leber's optic atrophy;
m.12848C>T	4540	MT-ND5	Pathogenic	267606899	RCV000010350;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104	M	12848	12848	M:g.12848C>T	ClinGen:CA340937,OMIM:516005.0009	C0917796 535000 Leber's optic atrophy;
NC_012920.1(MT-ND5):m.12923G>A	4540	MT-ND5	Likely pathogenic	-1	RCV003150916\|RCV003150917\|RCV003150918;	N	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|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:10	M	12923	12923		-
m.13045A>C	4540	MT-ND5	Pathogenic	267606895	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:m.13051G>A	4540	MT-ND5	Pathogenic/Likely pathogenic	1131692063	RCV000495629\|RCV000854887;	Y	MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380\|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104	M	13051	13051	M:g.13051G>A	ClinGen:CA414816093	C0751651 Mitochondrial diseases;
NC_012920.1(MT-ND5):m.13063G>A	4540	MT-ND5	Pathogenic/Likely pathogenic	1603224017	RCV000854888\|RCV002249551;	N	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:104	M	13063	13063	M:g.13063G>A	-
NC_012920.1:m.13094T>C	4540	MT-ND5	Pathogenic	1603224029	RCV000854891\|RCV002291219\|RCV002249552;	Y	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550\|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380\|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet	M	13094	13094	M:g.13094T>C	-
m.13637A>G	4540	MT-ND5	Benign	200855215	RCV000055699\|RCV000854959;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	13637	13637	M:g.13637A>G	ClinGen:CA344822	C0917796 535000 Leber's optic atrophy;
m.13708G>A	4540	MT-ND5	Benign	28359178	RCV000010336\|RCV000854970;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	13708	13708	M:g.13708G>A	ClinGen:CA340935,OMIM:516005.0001	C0917796 535000 Leber's optic atrophy;
m.13730G>A	4540	MT-ND5	Pathogenic	387906425	RCV000010337;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104	M	13730	13730	M:g.13730G>A	ClinGen:CA340936,OMIM:516005.0002	C0917796 535000 Leber's optic atrophy;
NC_012920.1(MT-ND5):m.13763C>T	4540	MT-ND5	Likely benign	1603224344	RCV000854982\|RCV001824897;	N	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MedGen:CN043634; 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:54	M	13763	13763	M:g.13763C>T	-
m.14279G>A	4541	MT-ND6	Uncertain significance	869025187	RCV000055705\|RCV000855082;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	14279	14279	m.14279G>A	ClinGen:CA356575	C0917796 535000 Leber's optic atrophy;
m.14325T>C	4541	MT-ND6	Benign	397515505	RCV000055700\|RCV000855092;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	14325	14325	M:g.14325T>C	ClinGen:CA344823	C0917796 535000 Leber's optic atrophy;
m.14459G>A	4541	MT-ND6	Pathogenic	199476105	RCV000010326\|RCV000010328\|RCV000010327\|RCV000144019\|RCV001796715;	Y	MONDO:MONDO:0010772,MedGen:C1839040,OMIM:500001, Orphanet:99718\|MedGen:C1838951\|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:	M	14459	14459	M:g.14459G>A	ClinGen:CA120625,OMIM:516006.0002	C1839040 500001 Leber hereditary optic neuropathy with dystonia;
m.14482C>A	4541	MT-ND6	Likely pathogenic	199476108	RCV000010332\|RCV002260590;	Y	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380	M	14482	14482	M:g.14482C>A	ClinGen:CA340934,OMIM:516006.0006	C0917796 535000 Leber's optic atrophy;
m.14482C>G	4541	MT-ND6	Likely pathogenic	199476108	RCV000055701\|RCV003162433;	Y	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380	M	14482	14482	M:g.14482C>G	ClinGen:CA344824	C0917796 535000 Leber's optic atrophy;
NC_012920.1:m.14484T>C	4541	MT-ND6	Pathogenic	199476104	RCV000010325\|RCV000144018\|RCV000223709\|RCV003162238;	Y	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MedGen:C3661900\|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C07	M	14484	14484	M:g.14484T>C	ClinGen:CA340932,OMIM:516006.0001	C0917796 535000 Leber's optic atrophy;
m.14487T>C	4541	MT-ND6	Pathogenic	199476109	RCV000010333\|RCV000010334\|RCV000144020\|RCV002247307\|RCV003162239;	Y	MedGen:C1838951\|MedGen:C1838954\|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:104\|MONDO:MONDO:0044970,MeSH:D0	M	14487	14487	M:g.14487T>C	ClinGen:CA120627,OMIM:516006.0007	C0023264 256000 Leigh syndrome;
m.14495A>G	4541	MT-ND6	Likely pathogenic	199476106	RCV000010330\|RCV002260588;	Y	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380	M	14495	14495	M:g.14495A>G	ClinGen:CA340933,OMIM:516006.0004	C0917796 535000 Leber's optic atrophy;
m.14498T>C	4541	MT-ND6	Uncertain significance	869025186	RCV000055702\|RCV000855115;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	14498	14498	M:g.14498T>C	ClinGen:CA356574	C0917796 535000 Leber's optic atrophy;
NC_012920.1(MT-ND6):m.14502T>C	4541	MT-ND6	Benign	201327354	RCV000851178\|RCV000855116;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	M	14502	14502	M:g.14502T>C	-
m.14568C>T	4541	MT-ND6	Likely pathogenic	397515506	RCV000055703\|RCV002260604;	Y	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380	M	14568	14568	M:g.14568C>T	ClinGen:CA344825	C0917796 535000 Leber's optic atrophy;
m.14596A>T	4541	MT-ND6	Pathogenic	387906424	RCV000010329\|RCV000055704;	N	MONDO:MONDO:0010772,MedGen:C1839040,OMIM:500001, Orphanet:99718\|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104	M	14596	14596	M:g.14596A>T	ClinGen:CA120626,OMIM:516006.0003	C1839040 500001 Leber hereditary optic neuropathy with dystonia;
NM_001377299.1(NDUFS2):c.268G>A (p.Ala90Thr)	4720	NDUFS2	Likely pathogenic	1553249704	RCV000625868;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104	1	161176262	161176262	1:g.161176262G>A	ClinGen:CA343377955	C0917796 535000 Leber's optic atrophy;
NM_006150.5(PRICKLE3):c.157C>T (p.Arg53Trp)	4007	PRICKLE3	risk factor	2065470015	RCV001281698;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104	X	49040342	49040342	49040342	OMIM:300111.0001
NM_006269.2(RP1):c.4376A>G (p.Glu1459Gly)	6101	RP1	Uncertain significance	1315126444	RCV001290414\|RCV001366428;	N	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MedGen:C3661900	8	55540818	55540818	55540818	-

MSeqDR Portal

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