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
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Brain Diseases, Metabolic, Inborn (D020739)
Parent Node:
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Mitochondrial Diseases (D028361)
Parent Node:
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Pyruvate Metabolism, Inborn Errors (D015323)
..Starting node
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Leigh Disease (D007888)

       Child Nodes:
........expand3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)  LSDB  L: 00484;
........expandCoQ-responsive OXPHOS deficiency (C535470)
........expandLeigh necrotizing encephalopathy due to pyruvate carboxylase deficiency (C536255)
........expandLeigh syndrome , French Canadian type (C537004)  LSDB  L: 00389;
........expandLeigh Syndrome Due To Mitochondrial Complex I Deficiency (C564021)
........expandLeigh Syndrome Due To Mitochondrial Complex II Deficiency (C564961)
........expandLeigh Syndrome due to Mitochondrial Complex III Deficiency (C564962)
........expandLeigh Syndrome due to Mitochondrial Complex IV Deficiency (C564963)
........expandLeigh Syndrome due to Mitochondrial Complex V Deficiency (C564964)
........expandLeigh Syndrome, X-Linked (C564114)
........expandMaternally Inherited Leigh Syndrome (C536035)
........expandMITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)  LSDB  L: 00529;
........expandNecrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530)
........expandNecrotizing encephalopathy, infantile subacute, of Leigh (C538590)



 Sister Nodes: 
..expandLeigh Disease (D007888) Child12  LSDB C:3 L: 00015;
..expandMITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)  LSDB  L: 00041;
..expandPyruvate Carboxylase Deficiency Disease (D015324) Child1  LSDB  L: 00398;
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
..expandPyruvate Kinase Deficiency of Red Cells (C564858)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:6873
Name:Leigh Disease
Definition:A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
Alternative IDs:DO:DOID:3652|OMIM:256000
ParentIDs:MESH:D015323|MESH:D020739|MESH:D028361
TreeNumbers:C10.228.140.163.100.412 |C16.320.565.189.412 |C16.320.565.202.810.444 |C18.452.132.100.412 |C18.452.648.189.412 |C18.452.648.202.810.444 |C18.452.660.520
Synonyms:Disease, Leigh's |Encephalomyelitides, Subacute Necrotizing |Encephalomyelitis, Subacute Necrotizing |Encephalomyelopathies, Subacute Necrotizing |Encephalomyelopathy, Subacute Necrotizing |Encephalopathies, Subacute Necrotizing |Encephalopathy, Subacute Necro
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: D007888
MeSH: D007888
OMIM: 256000;
MSeqDR LSDB: 00015;
MSeqDR has 3 matches in descendants: 00389; 00390; 00433;  
Genes: BCS1L; COX10; COX15; FOXRED1; NDUFA10; NDUFA12; NDUFA2; NDUFA9; NDUFAF2; NDUFAF6; NDUFS3; NDUFS4; NDUFS7; NDUFS8; SDHA; SURF1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001427Mitochondrial inheritance
3 HP:0003593Infantile onset
4 HP:0002793Abnormal pattern of respiration
5 HP:0001251Ataxia
6 HP:0007305CNS demyelination
7 HP:0001260Dysarthria
NAMDC:  Dysarthria
8 HP:0001332Dystonia
NAMDC:  Dystonia
9 HP:0000712Emotional lability
10 HP:0001508Failure to thrive
11 HP:0001290Generalized hypotonia
12 HP:0002171Gliosis
13 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
14 HP:0001263Global developmental delay
NAMDC:  Mental retardation
15 HP:0001404Hepatocellular necrosis
16 HP:0001425Heterogeneous
17 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
18 HP:0000998Hypertrichosis
19 HP:0002490Increased CSF lactate
20 HP:0002151Increased serum lactate
21 HP:0001249Intellectual disability
22 HP:0003128Lactic acidosis
23 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
24 HP:0000639Nystagmus
25 HP:0000602Ophthalmoplegia
26 HP:0000648Optic atrophy
27 HP:0003812Phenotypic variability
28 HP:0000580Pigmentary retinopathy
NAMDC:  Pigmentary retinopathy
29 HP:0003676Progressive
30 HP:0000508Ptosis
NAMDC:  Ptosis
31 HP:0002878Respiratory failure
32 HP:0002093Respiratory insufficiency
33 HP:0001250Seizures
NAMDC:  Seizures
34 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
35 HP:0001257Spasticity
NAMDC:  Spasticity
36 HP:0000486Strabismus
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001697.3(ATP5PO):c.87+3A>G539ATP5POPathogenic/Likely pathogenicrs1987287870RCV001257515|RCV001290417; N|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50621352867513528675121:g.35286751T>C-
NM_001079866.2(BCS1L):c.-85G>A617BCS1LUncertain significancers938140522RCV001142597|RCV001142598|RCV001142599|RCV002491427; NMONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693; MO22195244312195244312:g.219524431G>A-
NM_001079866.2(BCS1L):c.-53G>T617BCS1LUncertain significancers886055624RCV000260413|RCV000315836|RCV000355262; NMONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622195244632195244632:g.219524463G>TClinGen:CA10612817C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.-50+425T>C617BCS1LUncertain significancers886055625RCV000275953|RCV000330985|RCV000389070; NMONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622195248912195248912:g.219524891T>CClinGen:CA10614322C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.-50+458T>G617BCS1LUncertain significancers188224298RCV000291289|RCV000346257|RCV000385604|RCV000676998; NMONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720222195249242195249242:g.219524924T>GClinGen:CA10612818C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.-43G>A617BCS1LConflicting interpretations of pathogenicityrs145989550RCV000198605|RCV000289306|RCV000341934|RCV000382259; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:5369322195256682195256682:g.219525668G>AClinGen:CA323137C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.-14G>A617BCS1LConflicting interpretations of pathogenicityrs367721351RCV000302189|RCV000340599|RCV000395551|RCV000605569; NMONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN16937422195256972195256972:g.219525697G>AClinGen:CA2109591C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.112C>G (p.Leu38Val)617BCS1LUncertain significancers886055626RCV000300923|RCV000353398|RCV000402322; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:5369322195258222195258222:g.219525822C>GClinGen:CA10614187C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.126A>G (p.Ala42=)617BCS1LConflicting interpretations of pathogenicityrs144200704RCV000200525|RCV000886562|RCV001140092|RCV001140853|RCV001140093; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622195258362195258362:g.219525836A>GClinGen:CA325107CN169374 not specified;
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)617BCS1LPathogenicrs121908576RCV000006544|RCV000195481|RCV000260660|RCV000576565|RCV000763069|RCV002251885; NMONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MedGen:CN517202|MedGen:CN239240|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MONDO:MONDO:0009872,MedGen:C0266022195258762195258762:g.219525876C>TClinGen:CA118015,OMIM:603647.0007CN239240 BCS1L-Related Disorders;
NM_001079866.2(BCS1L):c.171C>T (p.Asp57=)617BCS1LConflicting interpretations of pathogenicityrs756932413RCV000432338|RCV001140855|RCV001140854|RCV001140856|RCV001484726; NMedGen:CN169374|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720222195258812195258812:g.219525881C>TClinGen:CA2109614CN169374 not specified;
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)617BCS1LConflicting interpretations of pathogenicityrs142540289RCV000273790|RCV000313563|RCV000370613|RCV000376147; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MedGen:CN51720222195259112195259112:g.219525911C>TClinGen:CA2109620C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.258T>C (p.His86=)617BCS1LConflicting interpretations of pathogenicityrs886055627RCV000272188|RCV000330882|RCV000364504|RCV000982868; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MedGen:CN51720222195259682195259682:g.219525968T>CClinGen:CA10612819C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.321-12G>A617BCS1LUncertain significancers776363896RCV000285241|RCV000324948|RCV000382055; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:5369322195261172195261172:g.219526117G>AClinGen:CA2109643C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg)617BCS1LPathogenic/Likely pathogenicrs1057521059RCV000432529|RCV001329213|RCV002285017; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:25490222195261932195261932:g.219526193G>AClinGen:CA16604118CN517202 not provided;
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)617BCS1LPathogenicrs121908577RCV000006545|RCV000779835|RCV001835622|RCV002243624|RCV002476937|RCV002512833; NMONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MOND22195265692195265692:g.219526569G>AClinGen:CA118021,UniProtKB:Q9Y276#VAR_032089,OMIM:603647.0008C0266006 262000 Pili torti-deafness syndrome;
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)617BCS1LConflicting interpretations of pathogenicityrs121908578RCV000006546|RCV000034811|RCV000384654|RCV001142702|RCV001142701; NMedGen:C4016851|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MedGen:CN517202|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622195265712195265712:g.219526571C>TClinGen:CA118026,UniProtKB:Q9Y276#VAR_032090,OMIM:603647.0009C4016851 Bjornstad syndrome with mild mitochondrial complex III deficiency;
NM_001079866.2(BCS1L):c.566A>G (p.Asn189Ser)617BCS1LUncertain significancers1939494232RCV001142703|RCV001137959|RCV001137960; NMONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:5369322195265872195265872:g.219526587A>G-
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile)617BCS1LConflicting interpretations of pathogenicityrs148278887RCV000200623|RCV000714568|RCV000949252|RCV001137961|RCV001137963|RCV001137962; NMedGen:CN169374|MedGen:CN239240|MedGen:CN517202|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50622195266342195266342:g.219526634G>AClinGen:CA325212CN169374 not specified;
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)617BCS1LBenign/Likely benignrs58447305RCV000123832|RCV000281286|RCV000324040|RCV000376268|RCV000677000|RCV001527285; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MedGen:CN517202|MONDO:MONDO:0009872,MedGen:C0266022195266492195266492:g.219526649G>AClinGen:CA289666C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=)617BCS1LConflicting interpretations of pathogenicityrs781666793RCV000279975|RCV000338686|RCV000394839|RCV000927961; NMONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MedGen:CN51720222195272812195272812:g.219527281C>GClinGen:CA2109753C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.771G>A (p.Thr257=)617BCS1LConflicting interpretations of pathogenicityrs148302981RCV000438295|RCV001138380|RCV001138378|RCV001138379|RCV002521706; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MedGen:CN51720222195272842195272842:g.219527284G>AClinGen:CA2109755CN169374 not specified;
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=)617BCS1LConflicting interpretations of pathogenicityrs112329020RCV000311482|RCV000351273|RCV000401551|RCV000426045|RCV000913045; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MedGen:CN169374|MedGen:CN51720222195273352195273352:g.219527335G>AClinGen:CA2109770C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.996C>T (p.Asn332=)617BCS1LBenignrs33946522RCV000123833|RCV000310745|RCV000363248|RCV000401829|RCV000677001|RCV001527149; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MedGen:CN517202|MONDO:MONDO:0009872,MedGen:C0266022195277122195277122:g.219527712C>TClinGen:CA289671C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile)617BCS1LConflicting interpretations of pathogenicityrs146731467RCV000825116|RCV000885856|RCV001140962|RCV001140960|RCV001140961; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:25490222195277162195277162:g.219527716G>A-
NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=)617BCS1LBenignrs35843327RCV000123835|RCV000270977|RCV000323471|RCV000361877|RCV000677002|RCV001527150; NMedGen:CN169374|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0009872,MedGen:C0266022195278662195278662:g.219527866T>CClinGen:CA289677C1864002 603358 GRACILE syndrome;
NM_001303.3(COX10):c.-170C>G1352COX10Uncertain significancers886052597RCV000278677|RCV000396008; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905171397275313972753NC_000017.10:g.13972753C>GClinGen:CA10638926C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.-112G>A1352COX10Benignrs6502330RCV000336039|RCV000390210|RCV001672530; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN517202171397281113972811NC_000017.10:g.13972811G>AClinGen:CA10648578C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.-109G>A1352COX10Benign/Likely benignrs28680987RCV000301058|RCV000367476|RCV000830944; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202171397281413972814NC_000017.10:g.13972814G>AClinGen:CA10638932C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.-90G>T1352COX10Uncertain significancers886052598RCV000307762|RCV000407367; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506171397283313972833NC_000017.10:g.13972833G>TClinGen:CA10644875C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.-89G>C1352COX10Uncertain significancers188803165RCV001127653|RCV001127652|RCV002491394; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0033635,MedGen:C5436682,OMIM:61904617139728341397283417:g.13972834G>C-
NM_001303.4(COX10):c.-89G>T1352COX10Uncertain significancers188803165RCV001123556|RCV001123557|RCV002482235; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0033635,MedGen:C5436682,OMIM:61904617139728341397283417:g.13972834G>T-
NM_001303.4(COX10):c.-63C>T1352COX10Benign/Likely benignrs77877576RCV000277116|RCV000362420; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905171397286013972860NC_000017.10:g.13972860C>TClinGen:CA10644876C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.-40G>A1352COX10Uncertain significancers376921957RCV000332179|RCV000368067; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905171397288313972883NC_000017.10:g.13972883G>AClinGen:CA10644880C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.-29C>A1352COX10Uncertain significancers373184679RCV000273590|RCV000319115; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905171397289413972894NC_000017.10:g.13972894C>AClinGen:CA8402188C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.-24G>A1352COX10Conflicting interpretations of pathogenicityrs201257809RCV000279297|RCV000373740|RCV000827262; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN517202171397289913972899NC_000017.10:g.13972899G>AClinGen:CA8402192C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.33C>T (p.Arg11=)1352COX10Benign/Likely benignrs8076787RCV000124570|RCV000315716|RCV000379378|RCV000676603; NMedGen:CN169374|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720217139729551397295517:g.13972955C>TClinGen:CA290470C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.44-3T>C1352COX10Uncertain significancers759643676RCV001124633|RCV001124634; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50617139776371397763717:g.13977637T>C-
NM_001303.4(COX10):c.64T>A (p.Trp22Arg)1352COX10Uncertain significancers540737897RCV000284888|RCV000339864; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905171397766013977660NC_000017.10:g.13977660T>AClinGen:CA8402235C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.83C>T (p.Thr28Ile)1352COX10Benign/Likely benignrs16948978RCV000124569|RCV000290887|RCV000385025|RCV000676604; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN51720217139776791397767917:g.13977679C>TClinGen:CA290468,UniProtKB:Q12887#VAR_057371C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.93C>A (p.Asp31Glu)1352COX10Conflicting interpretations of pathogenicityrs141481210RCV001125643|RCV001125644|RCV001718821; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN51720217139776891397768917:g.13977689C>AClinGen:CA8402242CN169374 not specified;
NM_001303.4(COX10):c.123G>A (p.Arg41=)1352COX10Uncertain significancers886052599RCV000345876|RCV000400516; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905171397771913977719NC_000017.10:g.13977719G>AClinGen:CA10648579C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.173G>A (p.Arg58His)1352COX10Uncertain significancers772223730RCV000315497|RCV000351189|RCV001859908|RCV002495013; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN517202|MONDO:MONDO:0033635,MedGen:C5436682,OMIM:619046171397776913977769NC_000017.10:g.13977769G>AClinGen:CA8402250C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.184A>T (p.Thr62Ser)1352COX10Benignrs2230351RCV000124571|RCV000311575|RCV000401023|RCV000676605; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN51720217139800581398005817:g.13980058A>TClinGen:CA290472,UniProtKB:Q12887#VAR_057372C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.192G>A (p.Leu64=)1352COX10Conflicting interpretations of pathogenicityrs569444237RCV000262578|RCV000357092|RCV002522914; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202171398006613980066NC_000017.10:g.13980066G>AClinGen:CA8402269C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.260C>T (p.Thr87Ile)1352COX10Conflicting interpretations of pathogenicityrs144000161RCV000899247|RCV001127734|RCV001127733; NMedGen:CN517202|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50617139801341398013417:g.13980134C>T-
NM_001303.4(COX10):c.290A>G (p.Tyr97Cys)1352COX10Benign/Likely benignrs16948986RCV000124572|RCV000298992|RCV000353817|RCV000676606; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN51720217139801641398016417:g.13980164A>GClinGen:CA290474,UniProtKB:Q12887#VAR_057373C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.302C>T (p.Pro101Leu)1352COX10Conflicting interpretations of pathogenicityrs145948285RCV000124573|RCV000975987|RCV001127735|RCV001127736; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50617139801761398017617:g.13980176C>TClinGen:CA290476CN169374 not specified;
NM_001303.4(COX10):c.311C>T (p.Pro104Leu)1352COX10Uncertain significancers202207627RCV000521510|RCV001127738|RCV001127737|RCV002476049; NMedGen:CN517202|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0033635,MedGen:C5436682,OMIM:61904617139801851398018517:g.13980185C>TClinGen:CA8402295CN169374 not specified;
NM_001303.4(COX10):c.394G>T (p.Asp132Tyr)1352COX10Uncertain significancers141549844RCV001331898|RCV001865746|RCV002476548; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0033635,MedGen:C5436682,OMIM:61904617139802681398026813980268-
NM_001303.4(COX10):c.476G>A (p.Arg159Gln)1352COX10Benignrs2072279RCV000124574|RCV000268376|RCV000322790|RCV000676607; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN51720217139803501398035017:g.13980350G>AClinGen:CA290478,UniProtKB:Q12887#VAR_060233C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.504G>A (p.Leu168=)1352COX10Benignrs2159132RCV000124568|RCV000264198|RCV000377462|RCV000676608; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN51720217140054391400543917:g.14005439G>AClinGen:CA290466C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.543G>A (p.Pro181=)1352COX10Conflicting interpretations of pathogenicityrs371273328RCV000328617|RCV000383020|RCV001564175; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202171400547814005478NC_000017.10:g.14005478G>AClinGen:CA8402358C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.624+4A>G1352COX10Conflicting interpretations of pathogenicityrs199668725RCV000288666|RCV000343670|RCV000829183; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN517202171400556314005563NC_000017.10:g.14005563A>GClinGen:CA8402373C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.675G>T (p.Pro225=)1352COX10Likely benignrs199609301RCV000826286|RCV001124726|RCV001124727; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:25490517140632441406324417:g.14063244G>T-
NM_001303.4(COX10):c.682C>T (p.Arg228Cys)1352COX10Conflicting interpretations of pathogenicityrs114521946RCV000124575|RCV000223992|RCV001124729|RCV001124728; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50617140632511406325117:g.14063251C>TClinGen:CA290480CN517202 not provided;
NM_001303.4(COX10):c.699A>G (p.Pro233=)1352COX10Benignrs2230354RCV000124560|RCV000294930|RCV000388928; NMedGen:CN169374|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50617140953091409530917:g.14095309A>GClinGen:CA290455C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.736C>T (p.Pro246Ser)1352COX10Uncertain significancers777697759RCV001125726|RCV001125727|RCV002491393; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0033635,MedGen:C5436682,OMIM:61904617140953461409534617:g.14095346C>T-
NM_001303.4(COX10):c.870G>A (p.Val290=)1352COX10Uncertain significancers1189180230RCV001125728|RCV001125729; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:25490517140954801409548017:g.14095480G>A-
NM_001303.4(COX10):c.909C>T (p.Ala303=)1352COX10Conflicting interpretations of pathogenicityrs370260574RCV000349796|RCV000398956|RCV001636907; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202171409551914095519NC_000017.10:g.14095519C>TClinGen:CA8402460C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.928+12G>A1352COX10Benignrs200573622RCV000124563|RCV000300689|RCV000337122; NMedGen:CN169374|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50617140955501409555017:g.14095550G>AClinGen:CA290459C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.929-9_929-7dup1352COX10Benign/Likely benignrs144296730RCV000297390|RCV000399268|RCV001518767; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202171411011514110116NC_000017.10:g.14110118_14110120dupClinGen:CA8402488C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.929-7C>T1352COX10Conflicting interpretations of pathogenicityrs62052075RCV000179820|RCV000265719|RCV000361435|RCV000676610; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN51720217141101201411012017:g.14110120C>TClinGen:CA203461C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.981C>T (p.Asn327=)1352COX10Conflicting interpretations of pathogenicityrs146175179RCV000124565|RCV000302186|RCV000366250|RCV000513362; NMedGen:CN169374|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720217141101791411017917:g.14110179C>TClinGen:CA290460C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.1027T>C (p.Cys343Arg)1352COX10Uncertain significancers200818252RCV000442977|RCV001333919|RCV002480280|RCV002524739; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0033635,MedGen:C5436682,OMIM:619046|MeSH:D030342,MedGen:C095012317141102251411022517:g.14110225T>CClinGen:CA8402510CN517202 not provided;
NM_001303.4(COX10):c.1038G>A (p.Ser346=)1352COX10Benign/Likely benignrs2230355RCV000124566|RCV000271444|RCV000326474|RCV001518584; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN51720217141102361411023617:g.14110236G>AClinGen:CA290462C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.1061G>A (p.Arg354Gln)1352COX10Uncertain significancers745492359RCV000513659|RCV000764104|RCV002524962|RCV003105935; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033635,MedGen:C5436682,OMIM:61904617141102591411025917:g.14110259G>AClinGen:CA8402517CN517202 not provided;
NM_001303.4(COX10):c.1064G>A (p.Arg355His)1352COX10Uncertain significancers757204220RCV001331897|RCV002546517; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720217141102621411026214110262-
NM_001303.4(COX10):c.1096G>T (p.Val366Leu)1352COX10Conflicting interpretations of pathogenicityrs111541535RCV000124567|RCV000961080|RCV001127831|RCV001127832|RCV001802947; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0033635,MedGen:C5436682,OMIM:61904617141102941411029417:g.14110294G>TClinGen:CA290464CN169374 not specified;
NM_001303.4(COX10):c.1169C>T (p.Ala390Val)1352COX10Uncertain significancers749603596RCV001122052|RCV001122053|RCV002497532|RCV001593283; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0033635,MedGen:C5436682,OMIM:619046|MedGen:CN51720217141103671411036717:g.14110367C>T-
NM_001303.4(COX10):c.1186G>A (p.Gly396Ser)1352COX10Uncertain significancers142336139RCV001333920|RCV002486334; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0033635,MedGen:C5436682,OMIM:61904617141103841411038414110384-
NM_001303.4(COX10):c.1192C>T (p.Arg398Cys)1352COX10Uncertain significancers368724576RCV001333921|RCV002486335|RCV002546661; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0033635,MedGen:C5436682,OMIM:619046|MedGen:CN51720217141103901411039014110390-
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp)1352COX10Conflicting interpretations of pathogenicityrs113058506RCV000514768|RCV000603785|RCV001122055|RCV001122054; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50617141104891411048917:g.14110489C>TClinGen:CA8402598CN517202 not provided;
NM_001303.4(COX10):c.1305C>T (p.Gly435=)1352COX10Conflicting interpretations of pathogenicityrs199737206RCV001122056|RCV001122057|RCV002556626; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN51720217141105031411050317:g.14110503C>T-
NM_001303.4(COX10):c.*13G>A1352COX10Uncertain significancers371047487RCV000277182|RCV000381042; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905171411054314110543NC_000017.10:g.14110543G>AClinGen:CA8402621C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*150_*152del1352COX10Uncertain significancers200239586RCV000292276|RCV000319360; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506171411066914110671NC_000017.10:g.14110680_14110682delClinGen:CA10648586C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*151_*152del1352COX10Benignrs200239586RCV000332249|RCV000386652|RCV001541165; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202171411066914110670NC_000017.10:g.14110681_14110682delClinGen:CA10648593C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*144T>C1352COX10Uncertain significancers1906742963RCV001124823|RCV001124824; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50617141106741411067417:g.14110674T>C-
NM_001303.4(COX10):c.*152T>A1352COX10Uncertain significancers886052602RCV000279241|RCV000373974; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905171411068214110682NC_000017.10:g.14110682T>AClinGen:CA10649500C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*297G>A1352COX10Benignrs8076247RCV000334328|RCV000396612|RCV001597088; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN517202171411082714110827NC_000017.10:g.14110827G>AClinGen:CA10638945C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*305A>G1352COX10Uncertain significancers143758001RCV001124825|RCV001124826; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:25490517141108351411083517:g.14110835A>G-
NM_001303.4(COX10):c.*322T>C1352COX10Benignrs11078233RCV000285265|RCV000341057; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905171411085214110852NC_000017.10:g.14110852T>CClinGen:CA10644884C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*371A>G1352COX10Benignrs11078234RCV000310611|RCV000389973; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506171411090114110901NC_000017.10:g.14110901A>GClinGen:CA10648594C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*408G>A1352COX10Uncertain significancers886052603RCV000365321|RCV000398965; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905171411093814110938NC_000017.10:g.14110938G>AClinGen:CA10638946C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*438G>C1352COX10Benign/Likely benignrs75823746RCV000307272|RCV000371382|RCV001778907; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN517202171411096814110968NC_000017.10:g.14110968G>CClinGen:CA10648596C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*485G>A1352COX10Uncertain significancers931361027RCV001127922|RCV001127921; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:25490517141110151411101517:g.14111015G>A-
NM_001303.4(COX10):c.*535C>A1352COX10Uncertain significancers886052604RCV000276817|RCV000331353; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905171411106514111065NC_000017.10:g.14111065C>AClinGen:CA10649501C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*539C>A1352COX10Uncertain significancers1906754704RCV001127923|RCV001127924; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:25490517141110691411106917:g.14111069C>A-
NM_001303.4(COX10):c.*564dup1352COX10Uncertain significancers886052605RCV000263806|RCV000367377; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506171411109314111094NC_000017.10:g.14111094dupClinGen:CA10649502C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*591_*592del1352COX10Uncertain significancers886052606RCV000318962|RCV000373561; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:25490517141111211411112217:g.14111121_14111122delClinGen:CA10649504C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*628C>G1352COX10Uncertain significancers886052607RCV000279032|RCV000324664; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50617141111581411115817:g.14111158C>GClinGen:CA10649506C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*628C>T1352COX10Uncertain significancers886052607RCV001122159|RCV001122160; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50617141111581411115817:g.14111158C>T-
NM_001303.4(COX10):c.*646C>A1352COX10Benignrs7214082RCV000282929|RCV000379280|RCV001707652; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720217141111761411117617:g.14111176C>AClinGen:CA10644886C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*646C>G1352COX10Conflicting interpretations of pathogenicityrs7214082RCV000347246|RCV000395029|RCV001778908; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN51720217141111761411117617:g.14111176C>GClinGen:CA10644889C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*653G>A1352COX10Uncertain significancers537449689RCV001122161|RCV001122162; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:25490517141111831411118317:g.14111183G>A-
NM_001303.4(COX10):c.*720G>A1352COX10Uncertain significancers1174121283RCV001124931|RCV001124932; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50617141112501411125017:g.14111250G>A-
NM_001303.4(COX10):c.*739A>G1352COX10Uncertain significancers886052608RCV000288864|RCV000343596; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:25490517141112691411126917:g.14111269A>GClinGen:CA10644890C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*757T>C1352COX10Benignrs1802618RCV000313440|RCV000390456|RCV001709595; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN51720217141112871411128717:g.14111287T>CClinGen:CA10648597C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*823C>T1352COX10Uncertain significancers886052609RCV000368052|RCV000402295; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:25490517141113531411135317:g.14111353C>TClinGen:CA10649509C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*831CT[1]1352COX10Benignrs397763766RCV000300799|RCV000355513; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:25490517141113611411136217:g.14111361_14111362delClinGen:CA10648599C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*859G>T1352COX10Uncertain significancers974629254RCV001125907|RCV001125908; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:25490517141113891411138917:g.14111389G>T-
NM_001303.4(COX10):c.*894G>T1352COX10Uncertain significancers573080780RCV001125909|RCV001125910; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:25490517141114241411142417:g.14111424G>T-
NM_001303.4(COX10):c.*904C>G1352COX10Conflicting interpretations of pathogenicityrs75839697RCV001125912|RCV001125911; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50617141114341411143417:g.14111434C>G-
NM_001303.4(COX10):c.*974C>A1352COX10Benign/Likely benignrs2071245RCV000260745|RCV000316091|RCV001778909; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720217141115041411150417:g.14111504C>AClinGen:CA10648600C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*1002C>T1352COX10Uncertain significancers1326135885RCV001128010|RCV001128011; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50617141115321411153217:g.14111532C>T-
NM_001303.4(COX10):c.*1032T>A1352COX10Uncertain significancers1906768949RCV001128012|RCV001128013; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50617141115621411156217:g.14111562T>A-
NM_001303.4(COX10):c.*1076T>C1352COX10Benignrs1050216RCV000266831|RCV000361388|RCV001613030; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN51720217141116061411160617:g.14111606T>CClinGen:CA10649512C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*1078C>T1352COX10Benignrs13183RCV000321981|RCV000376624|RCV001643004; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN51720217141116081411160817:g.14111608C>TClinGen:CA10648602C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*1079G>A1352COX10Conflicting interpretations of pathogenicityrs116445114RCV001122250|RCV001122251|RCV001779119; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720217141116091411160917:g.14111609G>A-
NM_001303.4(COX10):c.*1101C>T1352COX10Benign/Likely benignrs75165393RCV000271535|RCV000328872|RCV001675813; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN51720217141116311411163117:g.14111631C>TClinGen:CA10638949C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*1148G>A1352COX10Uncertain significancers151138383RCV001122252|RCV001122253; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:25490517141116781411167817:g.14111678G>A-
NM_001303.4(COX10):c.*1267A>G1352COX10Conflicting interpretations of pathogenicityrs75844637RCV001122255|RCV001122254|RCV001786437; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN51720217141117971411179717:g.14111797A>G-
NM_001303.4(COX10):c.*1324C>T1352COX10Benign/Likely benignrs75636595RCV000288971|RCV000381119; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506171411185414111854NC_000017.10:g.14111854C>TClinGen:CA10649516C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*1367G>A1352COX10Uncertain significancers555512140RCV000350985|RCV000389123; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506171411189714111897NC_000017.10:g.14111897G>AClinGen:CA10644894C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*1383G>A1352COX10Conflicting interpretations of pathogenicityrs145948022RCV001125028|RCV001125029|RCV001836945; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720217141119131411191317:g.14111913G>A-
NM_001303.4(COX10):c.*1385C>T1352COX10Benignrs1050223RCV000292528|RCV000349607|RCV001541829; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202171411191514111915NC_000017.10:g.14111915C>TClinGen:CA10649523C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*1459del1352COX10Uncertain significancers574015313RCV000300582|RCV000394845|RCV003144207; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0033635,MedGen:C5436682,OMIM:619046171411198914111989NC_000017.10:g.14111989delClinGen:CA10638951C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_020354.5(ENTPD7):c.*4258A>G1355COX15Likely benignrs10490941RCV000371158; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146869810146869810:g.101468698A>GClinGen:CA10637132C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_020354.5(ENTPD7):c.*4290C>G1355COX15Uncertain significancers886046594RCV000398596; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146873010146873010:g.101468730C>GClinGen:CA10629618C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_020354.5(ENTPD7):c.*4296T>C1355COX15Uncertain significancers74152722RCV000356005; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146873610146873610:g.101468736T>CClinGen:CA10633083C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_020354.5(ENTPD7):c.*4339C>T1355COX15Uncertain significancers764641759RCV000263601; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146877910146877910:g.101468779C>TClinGen:CA10636667C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_020354.5(ENTPD7):c.*4513G>A1355COX15Likely benignrs138423739RCV000316200; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146895310146895310:g.101468953G>AClinGen:CA10636672C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_020354.5(ENTPD7):c.*4519C>T1355COX15Uncertain significancers1381915856RCV001105330; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146895910146895910:g.101468959C>T-
NM_020354.5(ENTPD7):c.*4550G>T1355COX15Uncertain significancers1009446425RCV001105331; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146899010146899010:g.101468990G>T-
NM_020354.5(ENTPD7):c.*4579G>A1355COX15Uncertain significancers886046595RCV000354673; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146901910146901910:g.101469019G>AClinGen:CA10637133C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_020354.5(ENTPD7):c.*4621A>C1355COX15Uncertain significancers56206689RCV000267088; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146906110146906110:g.101469061A>CClinGen:CA10629619C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_020354.5(ENTPD7):c.*4789T>C1355COX15Uncertain significancers148302095RCV001105332; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146922910146922910:g.101469229T>C-
NM_020354.5(ENTPD7):c.*4914T>C1355COX15Uncertain significancers76530337RCV000324540; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146935410146935410:g.101469354T>CClinGen:CA10637134C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_020354.5(ENTPD7):c.*4931G>T1355COX15Uncertain significancers576990987RCV001106459; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146937110146937110:g.101469371G>T-
NM_020354.5(ENTPD7):c.*4976C>T1355COX15Uncertain significancers886046596RCV000377611; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146941610146941610:g.101469416C>TClinGen:CA10633085C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_020354.5(ENTPD7):c.*5002G>C1355COX15Uncertain significancers886046597RCV000271422; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101469442101469442NC_000010.10:g.101469442G>CClinGen:CA10637138C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_020354.5(ENTPD7):c.*5070A>G1355COX15Likely benignrs73345141RCV000328704; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101469510101469510NC_000010.10:g.101469510A>GClinGen:CA10633086C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_020354.5(ENTPD7):c.*5079T>C1355COX15Uncertain significancers1033966106RCV001106460; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146951910146951910:g.101469519T>C-
NM_020354.5(ENTPD7):c.*5113T>C1355COX15Uncertain significancers76656125RCV001106461; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146955310146955310:g.101469553T>C-
NM_020354.5(ENTPD7):c.*5165G>A1355COX15Benignrs2300983RCV000289074; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101469605101469605NC_000010.10:g.101469605G>AClinGen:CA10636676C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_020354.5(ENTPD7):c.*5167G>A1355COX15Uncertain significancers12241912RCV001108654; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146960710146960710:g.101469607G>A-
NM_020354.5(ENTPD7):c.*5261C>G1355COX15Uncertain significancers988381164RCV001108655; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146970110146970110:g.101469701C>G-
NM_020354.5(ENTPD7):c.*5320C>G1355COX15Uncertain significancers914156906RCV001108656; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146976010146976010:g.101469760C>G-
NM_020354.5(ENTPD7):c.*5401T>C1355COX15Uncertain significancers769776249RCV000350997; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101469841101469841NC_000010.10:g.101469841T>CClinGen:CA10637139C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_020354.5(ENTPD7):c.*5463T>G1355COX15Benignrs1056844RCV000389345; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101469903101469903NC_000010.10:g.101469903T>GClinGen:CA10629620C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_020354.5(ENTPD7):c.*5520C>T1355COX15Uncertain significancers548503022RCV001108657; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146996010146996010:g.101469960C>T-
NM_020354.5(ENTPD7):c.*5521G>A1355COX15Uncertain significancers886046598RCV000292710; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101469961101469961NC_000010.10:g.101469961G>AClinGen:CA10633091C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_020354.5(ENTPD7):c.*5645C>A1355COX15Uncertain significancers1000984RCV000349429; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101470085101470085NC_000010.10:g.101470085C>AClinGen:CA10636677C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_020354.5(ENTPD7):c.*5889A>G1355COX15Uncertain significancers11190252RCV000397123; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101470329101470329NC_000010.10:g.101470329A>GClinGen:CA10636678C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_020354.5(ENTPD7):c.*5890C>T1355COX15Uncertain significancers886046599RCV000300873; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101470330101470330NC_000010.10:g.101470330C>TClinGen:CA10636680C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_020354.5(ENTPD7):c.*5989T>C1355COX15Uncertain significancers188328622RCV000334736; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101470429101470429NC_000010.10:g.101470429T>CClinGen:CA10637142C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_020354.5(ENTPD7):c.*6030G>A1355COX15Uncertain significancers114201692RCV001103499; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147047010147047010:g.101470470G>A-
NM_020354.5(ENTPD7):c.*6091A>C1355COX15Likely benignrs80332976RCV000390482; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101470531101470531NC_000010.10:g.101470531A>CClinGen:CA10636689C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*3670G>A1355COX15Uncertain significancers886046600RCV000304295; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101470674101470674NC_000010.10:g.101470674C>TClinGen:CA10629621C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*3638C>T1355COX15Uncertain significancers2036362442RCV001103500; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147070610147070610:g.101470706G>A-
NM_078470.6(COX15):c.*3417T>C1355COX15Benignrs10883407RCV000303474; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101470927101470927NC_000010.10:g.101470927A>GClinGen:CA10629623C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*3362T>C1355COX15Uncertain significancers1296504635RCV001105413; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147098210147098210:g.101470982A>G-
NM_078470.6(COX15):c.*3247T>C1355COX15Uncertain significancers74775778RCV000365134; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101471097101471097NC_000010.10:g.101471097A>GClinGen:CA10637148C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*2959G>C1355COX15Uncertain significancers984578663RCV001105414; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147138510147138510:g.101471385C>G-
NM_078470.6(COX15):c.*2898A>G1355COX15Uncertain significancers886046601RCV000273011; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101471446101471446NC_000010.10:g.101471446T>CClinGen:CA10637149C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*2857A>G1355COX15Uncertain significancers576268362RCV000325749; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101471487101471487NC_000010.10:g.101471487T>CClinGen:CA10629624C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*2850A>G1355COX15Uncertain significancers895123603RCV001105415; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147149410147149410:g.101471494T>C-
NM_078470.6(COX15):c.*2839G>T1355COX15Uncertain significancers1025606598RCV001105416; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147150510147150510:g.101471505C>A-
NM_078470.6(COX15):c.*2745T>G1355COX15Uncertain significancers952880831RCV001106560; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147159910147159910:g.101471599A>C-
NM_078470.6(COX15):c.*2701A>G1355COX15Uncertain significancers886046602RCV000276513; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101471643101471643NC_000010.10:g.101471643T>CClinGen:CA10629631C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*2668C>G1355COX15Uncertain significancers886046603RCV000333899; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101471676101471676NC_000010.10:g.101471676G>CClinGen:CA10637153C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*2649G>A1355COX15Benignrs1128642RCV000386007; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101471695101471695NC_000010.10:g.101471695C>TClinGen:CA10633094C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*2620C>T1355COX15Uncertain significancers1327045732RCV001106561; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147172410147172410:g.101471724G>A-
NM_078470.6(COX15):c.*2595C>T1355COX15Uncertain significancers574033399RCV001106562; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147174910147174910:g.101471749G>A-
NM_078470.6(COX15):c.*2594T>G1355COX15Uncertain significancers1470572029RCV001106563; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147175010147175010:g.101471750A>C-
NM_078470.6(COX15):c.*2490T>C1355COX15Uncertain significancers886046604RCV000294256; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101471854101471854NC_000010.10:g.101471854A>GClinGen:CA10629632C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*2459G>T1355COX15Uncertain significancers886046605RCV000337594; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101471885101471885NC_000010.10:g.101471885C>AClinGen:CA10629638C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*2301G>C1355COX15Uncertain significancers79573437RCV001108736; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147204310147204310:g.101472043C>G-
NM_078470.6(COX15):c.*2301G>A1355COX15Uncertain significancers79573437RCV001108737; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147204310147204310:g.101472043C>T-
NM_078470.6(COX15):c.*2282G>A1355COX15Uncertain significancers762075313RCV000375739; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101472062101472062NC_000010.10:g.101472062C>TClinGen:CA10629639C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*2193A>T1355COX15Uncertain significancers557527426RCV000278990; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101472151101472151NC_000010.10:g.101472151T>AClinGen:CA10633095C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*2167A>G1355COX15Uncertain significancers1487355609RCV001108738; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147217710147217710:g.101472177T>C-
NM_078470.6(COX15):c.*2060C>T1355COX15Uncertain significancers886046606RCV000336530; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101472284101472284NC_000010.10:g.101472284G>AClinGen:CA10636690C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*1957A>C1355COX15Uncertain significancers2036431642RCV001108739; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147238710147238710:g.101472387T>G-
NM_078470.6(COX15):c.*1876A>G1355COX15Likely benignrs115287270RCV001103578; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147246810147246810:g.101472468T>C-
NM_078470.6(COX15):c.*1851G>T1355COX15Uncertain significancers754063121RCV000394010; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101472493101472493NC_000010.10:g.101472493C>AClinGen:CA10633100C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*1850G>T1355COX15Uncertain significancers755134012RCV000306176; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101472494101472494NC_000010.10:g.101472494C>AClinGen:CA10637156C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*1793G>A1355COX15Uncertain significancers574149332RCV000340075; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101472551101472551NC_000010.10:g.101472551C>TClinGen:CA10636692C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*1776T>A1355COX15Uncertain significancers145963002RCV000394009; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101472568101472568NC_000010.10:g.101472568A>TClinGen:CA10636694C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*1716G>A1355COX15Uncertain significancers186244558RCV000307331; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101472628101472628NC_000010.10:g.101472628C>TClinGen:CA10633102C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*1693G>A1355COX15Likely benignrs74981084RCV000366663; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147265110147265110:g.101472651C>TClinGen:CA10629642C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*1594C>G1355COX15Uncertain significancers886046607RCV000272094; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147275010147275010:g.101472750G>CClinGen:CA10633103C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*1591C>T1355COX15Uncertain significancers190369277RCV001105513; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147275310147275310:g.101472753G>A-
NM_078470.6(COX15):c.*1590A>C1355COX15Uncertain significancers181768654RCV001105514; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147275410147275410:g.101472754T>G-
NM_078470.6(COX15):c.*1474C>T1355COX15Uncertain significancers886046608RCV000313072; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147287010147287010:g.101472870G>AClinGen:CA10637166C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*1362G>A1355COX15Uncertain significancers750145039RCV001105515; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147298210147298210:g.101472982C>T-
NM_078470.6(COX15):c.*1361C>T1355COX15Uncertain significancers886046610RCV000277894; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147298310147298310:g.101472983G>AClinGen:CA10637167C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*1349A>C1355COX15Uncertain significancers779762294RCV001105516; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147299510147299510:g.101472995T>G-
NM_078470.6(COX15):c.*1309T>C1355COX15Uncertain significancers556850599RCV000332883; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147303510147303510:g.101473035A>GClinGen:CA10636695C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*1242A>G1355COX15Uncertain significancers2036459883RCV001105517; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147310210147310210:g.101473102T>C-
NM_078470.6(COX15):c.*1197T>C1355COX15Likely benignrs149696723RCV000354834|RCV001582923; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172021010147314710147314710:g.101473147A>GClinGen:CA5642027C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*1126T>C1355COX15Benignrs2231687RCV000116814|RCV000259999|RCV000676871; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172021010147321810147321810:g.101473218A>GClinGen:CA288774C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*1122C>G1355COX15Uncertain significancers142892403RCV000319874|RCV002520521; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172021010147322210147322210:g.101473222G>CClinGen:CA5642037C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.1029C>A (p.Leu343=)1355COX15Uncertain significancers757725009RCV000374551; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147617710147617710:g.101476177G>TClinGen:CA5642109C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.988-3C>T1355COX15Uncertain significancers745556177RCV000284765; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147622110147622110:g.101476221G>AClinGen:CA10637173C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.988-8C>A1355COX15Conflicting interpretations of pathogenicityrs542092025RCV000124578|RCV000426006|RCV001106672; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147622610147622610:g.101476226G>TClinGen:CA290484CN517202 not provided;
NM_078470.6(COX15):c.929C>G (p.Pro310Arg)1355COX15Conflicting interpretations of pathogenicityrs138293000RCV000195853|RCV000321049; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101478161101478161NC_000010.10:g.101478161G>CClinGen:CA320228C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.841G>A (p.Val281Met)1355COX15Uncertain significancers201703572RCV001108825; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147824910147824910:g.101478249C>T-
NM_078470.6(COX15):c.832+9C>T1355COX15Uncertain significancers777349150RCV001108826; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010148073510148073510:g.101480735G>A-
NM_078470.6(COX15):c.784C>T (p.Arg262Ter)1355COX15Conflicting interpretations of pathogenicityrs774366079RCV000778265|RCV002535631; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720210101480792101480792NC_000010.10:g.101480792G>A-
NM_078470.6(COX15):c.717G>T (p.Trp239Cys)1355COX15Uncertain significancers886046611RCV000380272; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010148374610148374610:g.101483746C>AClinGen:CA10637175C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.665G>A (p.Arg222His)1355COX15Uncertain significancers377568460RCV001108827|RCV002558088; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172021010148379810148379810:g.101483798C>T-
NM_078470.6(COX15):c.664C>T (p.Arg222Cys)1355COX15Conflicting interpretations of pathogenicityrs2231682RCV000898890|RCV001108828; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010148379910148379910:g.101483799G>A-
NM_078470.6(COX15):c.582+14A>G1355COX15Conflicting interpretations of pathogenicityrs79410539RCV000285899|RCV000443501|RCV001523675; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374|MedGen:CN51720210101486711101486711NC_000010.10:g.101486711T>CClinGen:CA5642234C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.548G>A (p.Arg183His)1355COX15Benign/Likely benignrs35483721RCV000124581|RCV001001608|RCV000947276|RCV001108829; NMedGen:CN169374|MONDO:MONDO:0014051,MedGen:C3554534,OMIM:615119, Orphanet:1561|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010148675910148675910:g.101486759C>TClinGen:CA290488CN169374 not specified;
NM_078470.6(COX15):c.495G>T (p.Leu165=)1355COX15Uncertain significancers2036978379RCV001108830; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010148681210148681210:g.101486812C>A-
NM_078470.6(COX15):c.490A>G (p.Ile164Val)1355COX15Uncertain significance-1RCV001784122; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101486817101486817101486817-
NM_078470.6(COX15):c.452C>G (p.Ser151Ter)1355COX15Pathogenicrs149718203RCV000586150|RCV000033254|RCV000599531|RCV002252173; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0014051,MedGen:C3554534,OMIM:615119, Orphanet:1561|MedGen:CN517202|1010148685510148685510:g.101486855G>CClinGen:CA5642259,OMIM:603646.0003C0023264 256000 Leigh syndrome;
NM_078470.6(COX15):c.406G>C (p.Asp136His)1355COX15Uncertain significancers766429756RCV000345111|RCV002520522; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720210101486901101486901NC_000010.10:g.101486901C>GClinGen:CA5642269C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.396-3C>G1355COX15Conflicting interpretations of pathogenicityrs200910834RCV000006553|RCV000266470|RCV002469094; NMONDO:MONDO:0014051,MedGen:C3554534,OMIM:615119, Orphanet:1561|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010148691410148691410:g.101486914G>CClinGen:CA5642274,OMIM:603646.0002CN517202 not provided;
NM_078470.6(COX15):c.305G>A (p.Trp102Ter)1355COX15Pathogenic/Likely pathogenicrs778412019RCV001331215|RCV002307728; NMONDO:MONDO:0014051,MedGen:C3554534,OMIM:615119, Orphanet:1561|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101487288101487288101487288-
NM_078470.6(COX15):c.293C>T (p.Ser98Leu)1355COX15Uncertain significancers1315877896RCV001103673; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010148730010148730010:g.101487300G>A-
NM_078470.6(COX15):c.255T>C (p.Ile85=)1355COX15Conflicting interpretations of pathogenicityrs147881961RCV000396573|RCV001672415; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720210101489327101489327NC_000010.10:g.101489327A>GClinGen:CA5642324C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.164G>A (p.Arg55Lys)1355COX15Conflicting interpretations of pathogenicityrs777532861RCV000197287|RCV000291406|RCV002515389|RCV002517204; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MeSH:D030342,MedGen:C09501231010148941810148941810:g.101489418C>TClinGen:CA321735C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.161G>A (p.Gly54Glu)1355COX15Uncertain significancers781108007RCV000346270; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101489421101489421NC_000010.10:g.101489421C>TClinGen:CA5642342C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.131G>A (p.Ser44Asn)1355COX15Uncertain significancers141506146RCV000398229|RCV001859775|RCV002504048|RCV002522137; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0014051,MedGen:C3554534,OMIM:615119, Orphanet:1561|MeSH:D030342,MedGen:C095012310101489451101489451NC_000010.10:g.101489451C>TClinGen:CA5642350C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.79_90+3delinsGACT1355COX15Likely pathogenic-1RCV002282872; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101491714101491728101491714-
NM_078470.6(COX15):c.84A>G (p.Arg28=)1355COX15Conflicting interpretations of pathogenicityrs370595065RCV001103674|RCV002555014; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172021010149172310149172310:g.101491723T>C-
NM_078470.6(COX15):c.-23G>T1355COX15Conflicting interpretations of pathogenicityrs2231678RCV000124576|RCV001103675; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010149182910149182910:g.101491829C>AClinGen:CA290482CN169374 not specified;
NM_078470.6(COX15):c.-26A>G1355COX15Uncertain significancers2231677RCV000370770; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101491832101491832NC_000010.10:g.101491832T>CClinGen:CA5642414C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.-71T>C1355COX15Uncertain significancers886046612RCV000399762; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101491877101491877NC_000010.10:g.101491877A>GClinGen:CA10637180C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.7(COX15):c.-84G>A1355COX15Uncertain significancers574143521RCV000298560|RCV002487323; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0014051,MedGen:C3554534,OMIM:615119, Orphanet:156110101491890101491890NC_000010.10:g.101491890C>TClinGen:CA10629645C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.-114A>G1355COX15Uncertain significancers539821050RCV000353428; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101491920101491920NC_000010.10:g.101491920T>CClinGen:CA10636703C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.-133T>C1355COX15Uncertain significancers566424487RCV000263213; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101491939101491939NC_000010.10:g.101491939A>GClinGen:CA10629649C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004376.6(COX15):c.-142A>C1355COX15Uncertain significancers560024737RCV001105627; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010149194810149194810:g.101491948T>G-
NM_004376.6(COX15):c.-149G>T1355COX15Uncertain significancers139698647RCV001105628; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010149195510149195510:g.101491955C>A-
NM_015960.3(CUTC):c.-68G>A1355COX15Uncertain significancers886046613RCV000318410; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101492038101492038NC_000010.10:g.101492038G>AClinGen:CA10633110C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_015960.3(CUTC):c.-50C>G1355COX15Uncertain significancers985074355RCV001106764; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010149205610149205610:g.101492056C>G-
NM_015960.3(CUTC):c.-35A>C1355COX15Uncertain significancers373242921RCV001106765; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010149207110149207110:g.101492071A>C-
NM_015960.3(CUTC):c.8G>C (p.Arg3Thr)1355COX15Uncertain significancers886046614RCV000359052; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101492113101492113NC_000010.10:g.101492113G>CClinGen:CA10629652C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_015960.3(CUTC):c.39G>A (p.Ala13_Arg14=)1355COX15Uncertain significancers751586131RCV000264245; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101492144101492144NC_000010.10:g.101492144G>AClinGen:CA5642434C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_015960.3(CUTC):c.61+46G>C1355COX15Uncertain significancers11595470RCV000378719; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101492212101492212NC_000010.10:g.101492212G>CClinGen:CA5642439C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_015960.3(CUTC):c.61+75G>A1355COX15Benignrs2231675RCV000288170|RCV001653465; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720210101492241101492241NC_000010.10:g.101492241G>AClinGen:CA10629659C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_015960.3(CUTC):c.61+112A>G1355COX15Uncertain significancers550813748RCV000329155; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101492278101492278NC_000010.10:g.101492278A>GClinGen:CA10633113C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_015960.3(CUTC):c.61+226G>A1355COX15Uncertain significancers186438310RCV001107398; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010149239210149239210:g.101492392G>A-
NM_015960.3(CUTC):c.61+230C>T1355COX15Uncertain significancers191339901RCV001107399; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010149239610149239610:g.101492396C>T-
NM_015960.3(CUTC):c.61+237T>G1355COX15Benignrs2281636RCV000383808|RCV001612936; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720210101492403101492403NC_000010.10:g.101492403T>GClinGen:CA10633114C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_015960.3(CUTC):c.61+242G>T1355COX15Uncertain significancers886046616RCV000293898; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101492408101492408NC_000010.10:g.101492408G>TClinGen:CA10636704C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_000108.5(DLD):c.-10C>T1738DLDUncertain significancers1269120569RCV001160118|RCV001160119|RCV001163464; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:7924371075316861075316867:g.107531686C>T-
NM_000108.5(DLD):c.-8G>T1738DLDUncertain significancers372155330RCV000309229|RCV000367380|RCV000405448; NMONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:7657107531688107531688NC_000007.13:g.107531688G>TClinGen:CA4434307C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.30C>A (p.Ser10=)1738DLDConflicting interpretations of pathogenicityrs779166996RCV001163465|RCV001163467|RCV001163466; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:7924371075317251075317257:g.107531725C>A-
NM_000108.5(DLD):c.34G>A (p.Ala12Thr)1738DLDBenign/Likely benignrs75077312RCV000124698|RCV000269642|RCV000324743|RCV000676797|RCV001085257; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MedGen:CN517202|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:76571075317291075317297:g.107531729G>AClinGen:CA290616C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.55C>G (p.Arg19Gly)1738DLDUncertain significancers144038427RCV000701637|RCV001163784|RCV001163783|RCV001561816; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720271075336601075336607:g.107533660C>G-CN043137 246900 Maple syrup urine disease, type 3;
NM_000108.5(DLD):c.74A>C (p.Gln25Pro)1738DLDUncertain significancers61749951RCV000266066|RCV000321362|RCV000360727; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:792437107533679107533679NC_000007.13:g.107533679A>CClinGen:CA4434344C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)1738DLDUncertain significancers138002793RCV000281549|RCV000317845|RCV000376021|RCV000367820|RCV000487629; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MedGen:CN169374|MedGen:CN51720271075337051075337057:g.107533705A>GClinGen:CA312448C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.116C>T (p.Pro39Leu)1738DLDUncertain significancers766396602RCV000295703|RCV000350667|RCV000371459; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5067107533721107533721NC_000007.13:g.107533721C>TClinGen:CA10625072C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.117G>A (p.Pro39=)1738DLDUncertain significancers751621846RCV000293134|RCV000348029|RCV000386565; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5067107533722107533722NC_000007.13:g.107533722G>AClinGen:CA4434356C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.226C>T (p.Leu76Phe)1738DLDUncertain significancers967089304RCV001160213|RCV001160215|RCV001160214; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50671075427971075427977:g.107542797C>T-
NM_000108.5(DLD):c.249T>C (p.Val83=)1738DLDBenignrs2228664RCV000124687|RCV000344385|RCV000393062|RCV000676798|RCV000999961; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MedGen:CN517202|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:76571075428201075428207:g.107542820T>CClinGen:CA290603C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.267+15del1738DLDUncertain significancers886061906RCV000304750|RCV000359444|RCV000393088; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:248600,OMIM:PS248600, Orphanet:511|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:792437107542850107542850NC_000007.13:g.107542853delClinGen:CA10622964C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.321A>G (p.Ala107=)1738DLDConflicting interpretations of pathogenicityrs138398782RCV000898845|RCV001163571|RCV001160216|RCV001703709; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720271075439761075439767:g.107543976A>GClinGen:CA4434418CN169374 not specified;
NM_000108.5(DLD):c.375G>A (p.Glu125=)1738DLDConflicting interpretations of pathogenicityrs559057715RCV000928867|RCV001163572|RCV001163573; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50671075454401075454407:g.107545440G>A-
NM_000108.5(DLD):c.439-7T>C1738DLDBenign/Likely benignrs10263341RCV000179713|RCV000264516|RCV000355848|RCV000611867|RCV000676799; NMedGen:CN169374|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MedGen:CN51720271075457991075457997:g.107545799T>CClinGen:CA303052C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.507C>T (p.Gly169=)1738DLDBenign/Likely benignrs144351432RCV000973950|RCV001163901|RCV001163900|RCV001529364; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MedGen:CN51720271075458741075458747:g.107545874C>TClinGen:CA4434486CN169374 not specified;
NM_000108.5(DLD):c.520A>G (p.Ile174Val)1738DLDUncertain significancers2031981415RCV001158971|RCV001163903|RCV001163902; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:7924371075458871075458877:g.107545887A>G-
NM_000108.5(DLD):c.543A>T (p.Ile181=)1738DLDConflicting interpretations of pathogenicityrs61749952RCV000179714|RCV000261104|RCV000388010|RCV000676800|RCV000999887; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MedGen:CN517202|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:76571075459101075459107:g.107545910A>TClinGen:CA303053C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.677T>C (p.Val226Ala)1738DLDUncertain significancers750449027RCV000274781|RCV000329949|RCV000384659; NMONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:7657107546806107546806NC_000007.13:g.107546806T>CClinGen:CA4434530C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.684+7G>A1738DLDBenignrs75123588RCV000124691|RCV000290221|RCV000345292|RCV000381208|RCV000676801; NMedGen:CN169374|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MedGen:CN51720271075468201075468207:g.107546820G>AClinGen:CA290606C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.685-14T>A1738DLDBenignrs80111449RCV000124692|RCV000286283|RCV000341290|RCV001001841; NMedGen:CN169374|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:76571075559371075559377:g.107555937T>AClinGen:CA290607C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.763A>C (p.Met255Leu)1738DLDConflicting interpretations of pathogenicityrs533405046RCV000185855|RCV000298315|RCV000408335|RCV001086796; NMedGen:CN517202|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:7657107556029107556029NC_000007.13:g.107556029A>CClinGen:CA312464
NM_000108.5(DLD):c.777A>G (p.Lys259=)1738DLDBenignrs1065762RCV000124693|RCV000676802|RCV001081205|RCV001161963|RCV001161964; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50671075560431075560437:g.107556043A>GClinGen:CA290608CN043137 246900 Maple syrup urine disease, type 3;
NM_000108.5(DLD):c.788G>A (p.Arg263His)1738DLDConflicting interpretations of pathogenicityrs145670503RCV000653827|RCV000676803|RCV001161965|RCV001161966; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:7924371075560541075560547:g.107556054G>AClinGen:CA312466CN043137 246900 Maple syrup urine disease, type 3;
NM_000108.5(DLD):c.860G>A (p.Gly287Glu)1738DLDUncertain significancers202125745RCV000277653|RCV000313980|RCV000353225; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:792437107556126107556126NC_000007.13:g.107556126G>AClinGen:CA4434567C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln)1738DLDUncertain significancers886061907RCV000274169|RCV000329018|RCV000368770; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:7657107557899107557899NC_000007.13:g.107557899A>CClinGen:CA10622967C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.1313T>C (p.Met438Thr)1738DLDUncertain significancers2032312825RCV001163988|RCV001163989|RCV001163990; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:7924371075584451075584457:g.107558445T>C-
NM_000108.5(DLD):c.1351C>T (p.Leu451=)1738DLDBenignrs1803921RCV000124695|RCV000270612|RCV000325649|RCV000383620|RCV000676804; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MedGen:CN51720271075584831075584837:g.107558483C>TClinGen:CA290611C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.1422A>C (p.Gly474=)1738DLDBenign/Likely benignrs34453495RCV000124696|RCV000676805|RCV001000277|RCV001159068|RCV001159069; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50671075595021075595027:g.107559502A>CClinGen:CA290613CN043137 246900 Maple syrup urine disease, type 3;
NM_000108.5(DLD):c.1465-7C>G1738DLDConflicting interpretations of pathogenicityrs886061908RCV000286136|RCV000322294|RCV000380507; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:7657107559632107559632NC_000007.13:g.107559632C>GClinGen:CA10628052C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.1503G>A (p.Ala501=)1738DLDConflicting interpretations of pathogenicityrs766286119RCV000282664|RCV000337641|RCV000376969; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:76571075596771075596777:g.107559677G>AClinGen:CA4434735C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*18A>T1738DLDBenignrs8721RCV000124697|RCV000279168|RCV000350587|RCV000616747|RCV000590748; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MedGen:CN51720271075597221075597227:g.107559722A>TClinGen:CA290615C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*28G>T1738DLDBenignrs17154615RCV000313165|RCV000365418|RCV000392922; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:7924371075597321075597327:g.107559732G>TClinGen:CA4434749C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*167T>C1738DLDUncertain significancers886061909RCV000307241|RCV000364131|RCV000404165; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:7924371075598711075598717:g.107559871T>CClinGen:CA10628053C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*207G>A1738DLDBenignrs4564RCV000267242|RCV000324559|RCV000358247; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50671075599111075599117:g.107559911G>AClinGen:CA10627979C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*225C>T1738DLDUncertain significancers553824101RCV000265942|RCV000318777|RCV000375475; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:7924371075599291075599297:g.107559929C>TClinGen:CA10625087C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*355A>G1738DLDUncertain significancers886061910RCV000278861|RCV000317557|RCV000388349; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:7924371075600591075600597:g.107560059A>GClinGen:CA10628055C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*374G>T1738DLDUncertain significancers576270082RCV001159163|RCV001159165|RCV001159164; NMONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50671075600781075600787:g.107560078G>T-
NM_000108.5(DLD):c.*394A>G1738DLDUncertain significancers1246423607RCV001159166|RCV001159167|RCV001159168; NMONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50671075600981075600987:g.107560098A>G-
NM_000108.5(DLD):c.*470G>A1738DLDConflicting interpretations of pathogenicityrs111619940RCV000296036|RCV000348657|RCV000401807; NMONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:76571075601741075601747:g.107560174G>AClinGen:CA10627980C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*470G>T1738DLDBenign/Likely benignrs111619940RCV001160519|RCV001160520|RCV001160521|RCV001786447; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MedGen:CN51720271075601741075601747:g.107560174G>T-
NM_000108.5(DLD):c.*474T>C1738DLDBenign/Likely benignrs16872391RCV001160524|RCV001160522|RCV001160523|RCV001797156; NMONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720271075601781075601787:g.107560178T>C-
NM_000108.5(DLD):c.*487C>T1738DLDBenignrs4518RCV000290158|RCV000347564|RCV000393003|RCV001618652; NMONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720271075601911075601917:g.107560191C>TClinGen:CA10622971C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*498T>G1738DLDUncertain significancers886061911RCV000307920|RCV000360355|RCV000392998; NMONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:76571075602021075602027:g.107560202T>GClinGen:CA10625088C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*648G>A1738DLDBenign/Likely benignrs57801571RCV000262043|RCV000302064|RCV000359139|RCV001786383; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720271075603521075603527:g.107560352G>AClinGen:CA10625089C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*739G>A1738DLDUncertain significancers181103944RCV001164166|RCV001164167|RCV001164168; NMONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:76571075604431075604437:g.107560443G>A-
NM_000108.5(DLD):c.*845G>A1738DLDUncertain significancers750426584RCV001159268|RCV001164169|RCV001164170; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:7924371075605491075605497:g.107560549G>A-
NM_000108.5(DLD):c.*855C>T1738DLDBenignrs116055514RCV000260770|RCV000319444|RCV000353302; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5067107560559107560559NC_000007.13:g.107560559C>TClinGen:CA10628056C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*887T>C1738DLDBenign/Likely benignrs16872396RCV001159269|RCV001159270|RCV001159271; NMONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:76571075605911075605917:g.107560591T>C-
NM_000108.5(DLD):c.*898C>T1738DLDUncertain significancers2032373871RCV001159272|RCV001160630|RCV001160631; NMONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:76571075606021075606027:g.107560602C>T-
NM_000108.5(DLD):c.*947G>T1738DLDBenignrs7777259RCV000275277|RCV000332301|RCV000386065; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:792437107560651107560651NC_000007.13:g.107560651G>TClinGen:CA10622972C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*978T>C1738DLDBenignrs2158835RCV000288290|RCV000328083|RCV000384986; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:792437107560682107560682NC_000007.13:g.107560682T>CClinGen:CA10625090C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*1027T>G1738DLDUncertain significancers372098056RCV001162242|RCV001162243|RCV001162244; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:76571075607311075607317:g.107560731T>G-
NM_000108.5(DLD):c.*1074C>G1738DLDBenignrs149275540RCV001162245|RCV001162246|RCV001164270; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:7924371075607781075607787:g.107560778C>G-
NM_000108.5(DLD):c.*1088A>G1738DLDUncertain significancers886061912RCV000287023|RCV000345560|RCV000379115; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:792437107560792107560792NC_000007.13:g.107560792A>GClinGen:CA10622976C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*1092C>T1738DLDUncertain significancers546777301RCV000300180|RCV000339878|RCV000399965; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:792437107560796107560796NC_000007.13:g.107560796C>TClinGen:CA10622977C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*1145A>T1738DLDUncertain significancers143750422RCV001159358|RCV001159359|RCV001164271; NMONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50671075608491075608497:g.107560849A>T-
NM_000108.5(DLD):c.*1231A>G1738DLDUncertain significancers2032385167RCV001159360|RCV001159361|RCV001159362; NMONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50671075609351075609357:g.107560935A>G-
NM_000108.5(DLD):c.*1300A>G1738DLDBenignrs77095705RCV001159364|RCV001159363|RCV001159365; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50671075610041075610047:g.107561004A>G-
NM_000108.5(DLD):c.*1307C>T1738DLDUncertain significancers568807016RCV000299103|RCV000338714|RCV000408008; NMONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:7657107561011107561011NC_000007.13:g.107561011C>TClinGen:CA10625091C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*1401G>T1738DLDUncertain significancers1266926415RCV001160728|RCV001160729|RCV001160730; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:76571075611051075611057:g.107561105G>T-
NM_000108.5(DLD):c.*1422C>T1738DLDUncertain significancers568479120RCV001160731|RCV001160732|RCV001162343; NMONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50671075611261075611267:g.107561126C>T-
NM_000108.5(DLD):c.*1451T>C1738DLDBenignrs2108223RCV000276849|RCV000312034|RCV000370203|RCV001618653; NMONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172027107561155107561155NC_000007.13:g.107561155T>CClinGen:CA10622982C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*1505C>T1738DLDUncertain significancers1053262850RCV001162344|RCV001164387|RCV001164386; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50671075612091075612097:g.107561209C>T-
NM_000108.5(DLD):c.*1640A>G1738DLDConflicting interpretations of pathogenicityrs148148357RCV001164388|RCV001164389|RCV001164390; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50671075613441075613447:g.107561344A>G-
NM_000108.5(DLD):c.*1688G>A1738DLDBenignrs8440RCV000272023|RCV000329448|RCV000369006|RCV001672684; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MedGen:CN5172027107561392107561392NC_000007.13:g.107561392G>AClinGen:CA10622983C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*1724C>G1738DLDUncertain significancers886061913RCV000270720|RCV000323562|RCV000381646; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:7657107561428107561428NC_000007.13:g.107561428C>GClinGen:CA10625092C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*1736T>C1738DLDConflicting interpretations of pathogenicityrs190655078RCV000283475|RCV000340859|RCV000380454; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5067107561440107561440NC_000007.13:g.107561440T>CClinGen:CA10622985C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*1791_*1794del1738DLDUncertain significancers760145994RCV000282155|RCV000335124|RCV000374539; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:248600,OMIM:PS248600, Orphanet:5117107561495107561498NC_000007.13:g.107561495_107561498delClinGen:CA10625093C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*1857A>C1738DLDUncertain significancers774099916RCV000313976|RCV000352477|RCV000398521; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:792437107561561107561561NC_000007.13:g.107561561A>CClinGen:CA10625103C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*1876G>A1738DLDConflicting interpretations of pathogenicityrs142001971RCV001160821|RCV001160822|RCV001160823; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:76571075615801075615807:g.107561580G>A-
NM_000108.5(DLD):c.*1877A>G1738DLDUncertain significancers182010485RCV000308860|RCV000366005|RCV000391649; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:792437107561581107561581NC_000007.13:g.107561581A>GClinGen:CA10622986C0023264 256000 Leigh syndrome;
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val)1892ECHS1Pathogenicrs587776498RCV000144497|RCV000167582|RCV000481050; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0014563,MedGen:C4225391,OMIM:616277, Orphanet:255241|MedGen:CN5172021013518683313518683310:g.135186833G>AClinGen:CA214806,UniProtKB:P30084#VAR_073373,OMIM:602292.0004C0023264 256000 Leigh syndrome;
NM_004092.4(ECHS1):c.2T>G (p.Met1Arg)1892ECHS1Pathogenic/Likely pathogenicrs587776497RCV000144496|RCV000167581|RCV002515942; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0014563,MedGen:C4225391,OMIM:616277, Orphanet:255241|MedGen:CN51720210135186836135186836NC_000010.10:g.135186836A>CClinGen:CA214804,OMIM:602292.0003C0023264 256000 Leigh syndrome;
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=)-1ERCC8;NDUFAF2Benignrs158921RCV000117705|RCV000278856|RCV000290995|RCV000348449|RCV000676954|RCV001778734; NMedGen:CN169374|MONDO:MONDO:0016006,MedGen:C0009207, Orphanet:191|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0032616,MedGen:C4748768,OMIM:618233560241142602411425:g.60241142G>AClinGen:CA153853C0009207 Cockayne syndrome;
NM_001136193.2(FASTKD2):c.810_820dup (p.Ser274fs)22868FASTKD2Pathogenicrs1574663066RCV000984084|RCV001090024; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0030020,MedGen:C5394293,OMIM:61885522076348452076348462:g.207634845_207634846insTTTCAGTTTTGOMIM:612322.0006
NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter)22868FASTKD2Pathogenicrs778120270RCV000984085|RCV001090022|RCV002508273; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0030020,MedGen:C5394293,OMIM:618855|MedGen:CN51720222076349052076349052:g.207634905C>TOMIM:612322.0004
NM_001136193.2(FASTKD2):c.1861del (p.Ser621fs)22868FASTKD2Pathogenicrs1574675683RCV000984083|RCV001090023; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0030020,MedGen:C5394293,OMIM:61885522076535882076535882:g.207653588_207653588delOMIM:612322.0005
NM_001278716.2(FBXL4):c.1544del (p.Cys515fs)26235FBXL4Likely pathogenic-1RCV002266444; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5066993234499932344999323448-
NC_000006.11:g.(99328501_99347143)_(99375699_99395681)del26235FBXL4Likely pathogenic-1RCV002271823; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50669932850199395681-1-
NM_017547.4(FOXRED1):c.20C>T (p.Pro7Leu)55572FOXRED1Uncertain significancers141392346RCV001334926|RCV002546707; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720211126139121126139121126139121-
NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser)55572FOXRED1Uncertain significancers1555065162RCV000662160|RCV000662159; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:26091112614485312614485311:g.126144853C>T-C0023264 256000 Leigh syndrome;
NM_017547.4(FOXRED1):c.608_609del (p.Glu203fs)55572FOXRED1Pathogenicrs1189650128RCV001249212; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061112614489112614489211:g.126144891_126144892del-
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)55572FOXRED1Conflicting interpretations of pathogenicityrs398124308RCV000081797|RCV000190588|RCV000586362|RCV000778312|RCV001197098|RCV002513837; NMedGen:CN517202|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032624,MedGen:C4748791,OMIM:618241|MeSH:D030342,MedGen:C09501231112614489512614489611:g.126144895_126144896insGAGTClinGen:CA204560C0023264 256000 Leigh syndrome;
NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter)55572FOXRED1Pathogenicrs267606829RCV000000015|RCV000578659|RCV001194045; NMONDO:MONDO:0032624,MedGen:C4748791,OMIM:618241|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061112614528412614528411:g.126145284C>TClinGen:CA113792,OMIM:613622.0001C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.734-1G>C55572FOXRED1Likely pathogenicrs1296948086RCV001334927; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611126145688126145688126145688-
NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys)55572FOXRED1Conflicting interpretations of pathogenicityrs146661281RCV000514034|RCV000763713; NMedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061112614570912614570911:g.126145709C>TClinGen:CA6354204CN517202 not provided;
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val)55572FOXRED1Conflicting interpretations of pathogenicityrs138061928RCV000199891|RCV000763714|RCV001107765; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:25201011126147035126147035NC_000011.9:g.126147035T>GClinGen:CA324443CN169374 not specified;
NM_017547.4(FOXRED1):c.1190C>G (p.Ala397Gly)55572FOXRED1Uncertain significancers201727988RCV000196209|RCV000988765; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061112614705412614705411:g.126147054C>GClinGen:CA320633CN169374 not specified;
NM_017547.4(FOXRED1):c.1454T>A (p.Ile485Asn)55572FOXRED1Uncertain significancers770063137RCV000518955|RCV000678792|RCV001334925|RCV002527642; NMedGen:CN517202|MedGen:C0424605|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MeSH:D030342,MedGen:C09501231112614757712614757711:g.126147577T>AClinGen:CA6354474C0424605 Developmental delay;
NM_024407.5(NDUFS7):c.*13C>A-1GAMT;NDUFS7Benign/Likely benignrs11551663RCV000127159|RCV000335492|RCV000345055|RCV000390875|RCV001126906; NMedGen:CN169374|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736, Orphanet:382|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101913955001395500NC_000019.9:g.1395500C>AClinGen:CA292508C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_000156.6(GAMT):c.*151T>C-1GAMT;NDUFS7Benign/Likely benignrs659460RCV000304781|RCV000343350|RCV000390864|RCV001672552; NMONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736, Orphanet:382|MedGen:CN517202191397207139720719:g.1397207A>GClinGen:CA10652268C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_000156.6(GAMT):c.*146A>C-1GAMT;NDUFS7Benign/Likely benignrs659455RCV000310942|RCV000308431|RCV000399238|RCV001594960; NMONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736, Orphanet:382|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202191397212139721219:g.1397212T>GClinGen:CA10652269C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_000156.6(GAMT):c.571-6G>A-1GAMT;NDUFS7Benign/Likely benignrs2074899RCV000117116|RCV000261636|RCV000276453|RCV000368554|RCV000676878|RCV001521976; NMedGen:CN169374|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736, Orphanet:382|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MedGen:CN517202|MONDO:MONDO:0000456,MedGen:CN227588,OMIM:PS300352191397504139750419:g.1397504C>TClinGen:CA288883C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
GRCh37/hg19 Xp22.33(chrX:2746025-2799731)x18908GYG2not provided-1RCV000509460; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506X27460252799731-C0023264 256000 Leigh syndrome;
NM_018060.4(IARS2):c.547_550del (p.Lys183fs)55699IARS2Likely pathogenic-1RCV003110149; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061220273982220273985NC_000001.10:g.220273984AAAG[1]-
NM_018060.4(IARS2):c.1821G>A (p.Trp607Ter)55699IARS2Uncertain significancers373436822RCV000144716|RCV000144955|RCV001334971; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0014455,MedGen:C4014942,OMIM:616007, Orphanet:4361741220300169220300169NC_000001.10:g.220300169G>AClinGen:CA233272,OMIM:612801.0002C0023264 256000 Leigh syndrome;
NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys)55699IARS2Likely benignrs143722284RCV000144956|RCV000144717|RCV000601238|RCV000986556; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374|MONDO:MONDO:0014455,MedGen:C4014942,OMIM:616007, Orphanet:43617412203113322203113321:g.220311332G>AClinGen:CA233274,UniProtKB:Q9NSE4#VAR_072590,OMIM:612801.0003C0023264 256000 Leigh syndrome;
NM_018060.4(IARS2):c.2669T>G (p.Leu890Arg)55699IARS2Uncertain significance-1RCV001876589|RCV003107865; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061220316394220316394220316394-
NM_002291.3(LAMB1):c.5225-7C>T-1LAMB1;DLDBenignrs3213673RCV000276408|RCV000325321|RCV000363636|RCV000423681|RCV001511889|RCV001730675; NMONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:248600,OMIM:PS248600, Orphanet:511|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374|MedGen:CN571075645391075645397:g.107564539G>AClinGen:CA4434790C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*2048dup10128LRPPRCUncertain significancers546907287RCV000308061; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506244113690441136912:g.44113690_44113691insCClinGen:CA10613380C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1449_*1456dup10128LRPPRCUncertain significancers57494476RCV000264271; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506244114282441142832:g.44114282_44114283insAAAAAAAAClinGen:CA10615501C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1445_*1456dup10128LRPPRCUncertain significancers57494476RCV000303246; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50624411428244114283NC_000002.11:g.44114292_44114303dupClinGen:CA10615518C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1435del10128LRPPRCUncertain significancers886056047RCV000360363; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50624411430444114304NC_000002.11:g.44114304delClinGen:CA10613403C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1387_*1390dup10128LRPPRCUncertain significancers886056048RCV000268045; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50624411434844114349NC_000002.11:g.44114349_44114352dupClinGen:CA10615259C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.2056A>G (p.Ile686Val)10128LRPPRCUncertain significancers750526576RCV001270836; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506244174419441744192:g.44174419T>C-
NM_133259.4(LRPPRC):c.1921-7A>G10128LRPPRCUncertain significancers779696239RCV001270837; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506244174921441749212:g.44174921T>C-
NM_133259.4(LRPPRC):c.1677+7C>T10128LRPPRCConflicting interpretations of pathogenicityrs374995996RCV000321679|RCV001443264; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202244177705441777052:g.44177705G>AClinGen:CA1638839C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.1156-13dup10128LRPPRCConflicting interpretations of pathogenicityrs747766605RCV000405246|RCV000481416|RCV002057702; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374|MedGen:CN51720224420104644201047NC_000002.11:g.44201052dupClinGen:CA1639072C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.121C>T (p.Pro41Ser)10128LRPPRCUncertain significance-1RCV002273071; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062442229664422296644222966-
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr)10128LRPPRCConflicting interpretations of pathogenicityrs200686732RCV000901776|RCV000986628|RCV001137778|RCV002517228; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472|MeSH:D030342,MedGen:C0950123244223080442230802:g.44223080C>TClinGen:CA324447CN169374 not specified;
NM_133259.3(LRPPRC):c.-45G>A10128LRPPRCBenignrs11124961RCV000349366|RCV001643032; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720224422313144223131NC_000002.11:g.44223131C>TClinGen:CA1639491C0023264 256000 Leigh syndrome;
NM_017446.4(MRPL39):c.921+5G>A54148MRPL39Likely pathogenic-1RCV002286587; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50621269651192696511926965119-
NM_017446.4(MRPL39):c.589-924G>A54148MRPL39Likely pathogenic-1RCV002286589; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50621269706502697065026970650-
NM_017446.4(MRPL39):c.526del (p.Ser176fs)54148MRPL39Likely pathogenic-1RCV002286588; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50621269721732697217326972172-
NM_023936.1(MRPS34):c.321+1G>T65993MRPS34Pathogenicrs1161932777RCV000505529|RCV000585740; NMONDO:MONDO:0054654,MedGen:C4540029,OMIM:617664|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506161822799182279916:g.1822799C>AClinGen:CA394243765,OMIM:611994.0001C4540029 617664 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32;
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys)65993MRPS34Likely pathogenicrs1131692037RCV000494696|RCV000505523; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0054654,MedGen:C4540029,OMIM:617664161823084182308416:g.1823084C>TClinGen:CA394244567,OMIM:611994.0003C4540029 617664 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32;
NC_012920.1:m.8557G>A4508MT-ATP6Benignrs386829040RCV000854235|RCV002221592; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M85578557M:g.8557G>A-
NC_012920.1(MT-ATP6):m.8573G>A4508MT-ATP6Benignrs1603221592RCV000854243; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85738573M:g.8573G>A-
NC_012920.1(MT-ATP6):m.8576T>C4508MT-ATP6Uncertain significancers1603221596RCV000854244; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85768576M:g.8576T>C-
NC_012920.1(MT-ATP6):m.8578C>T4508MT-ATP6Benignrs1556423492RCV000854245; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85788578M:g.8578C>T-
NC_012920.1(MT-ATP6):m.8581G>A4508MT-ATP6Benignrs1603221602RCV000854246; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85818581M:g.8581G>A-
NC_012920.1(MT-ATP6):m.8582C>T4508MT-ATP6Benignrs1556423493RCV000854247; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85828582M:g.8582C>T-
NC_012920.1(MT-ATP6):m.8584G>A4508MT-ATP6Benignrs3135028RCV000854248; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85848584M:g.8584G>A-
NC_012920.1(MT-ATP6):m.8588T>C4508MT-ATP6Benignrs1603221606RCV000854249; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85888588M:g.8588T>C-
NC_012920.1(MT-ATP6):m.8591T>C4508MT-ATP6Uncertain significancers1603221609RCV000854250; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85918591M:g.8591T>C-
NC_012920.1(MT-ATP6):m.8593A>G4508MT-ATP6Uncertain significancers1603221612RCV000854251; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85938593M:g.8593A>G-
NC_012920.1(MT-ATP6):m.8596A>G4508MT-ATP6Likely benignrs1603221617RCV000854252; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85968596M:g.8596A>G-
NC_012920.1(MT-ATP6):m.8597T>C4508MT-ATP6Likely benignrs1603221620RCV000854253; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85978597M:g.8597T>C-
NC_012920.1(MT-ATP6):m.8599C>A4508MT-ATP6Uncertain significancers1603221623RCV000854254; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85998599M:g.8599C>A-
NC_012920.1(MT-ATP6):m.8602T>C4508MT-ATP6Benignrs1556423501RCV000854255; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86028602M:g.8602T>C-
NC_012920.1(MT-ATP6):m.8603T>C4508MT-ATP6Benignrs1603221627RCV000854256; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86038603M:g.8603T>C-
NC_012920.1(MT-ATP6):m.8605C>T4508MT-ATP6Uncertain significancers1603221630RCV000854257; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86058605M:g.8605C>T-
NC_012920.1(MT-ATP6):m.8609C>T4508MT-ATP6Uncertain significancers1603221634RCV000854258; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86098609M:g.8609C>T-
NC_012920.1(MT-ATP6):m.8612T>C4508MT-ATP6Uncertain significancers1603221635RCV000854259; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86128612M:g.8612T>C-
NC_012920.1(MT-ATP6):m.8615T>C4508MT-ATP6Uncertain significancers1603221637RCV000854260; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86158615M:g.8615T>C-
NC_012920.1(MT-ATP6):m.8616G>T4508MT-ATP6Benign/Likely benignrs41427749RCV000224510|RCV000854261; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86168616M:g.8616G>TClinGen:CA10581379CN517202 not provided;
NC_012920.1(MT-ATP6):m.8617A>G4508MT-ATP6Likely benignrs1603221641RCV000854262; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86178617M:g.8617A>G-
NC_012920.1(MT-ATP6):m.8618T>C4508MT-ATP6Benignrs28358885RCV000854263; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86188618M:g.8618T>C-
NC_012920.1(MT-ATP6):m.8623A>C4508MT-ATP6Uncertain significancers1603221645RCV000854264; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86238623M:g.8623A>C-
NC_012920.1(MT-ATP6):m.8623A>G4508MT-ATP6Likely benignrs1603221645RCV000854265; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86238623M:g.8623A>G-
NC_012920.1(MT-ATP6):m.8623A>T4508MT-ATP6Uncertain significancers1603221645RCV000854266; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86238623M:g.8623A>T-
NC_012920.1(MT-ATP6):m.8624C>T4508MT-ATP6Likely benignrs1603221647RCV000854267; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86248624M:g.8624C>T-
NC_012920.1(MT-ATP6):m.8626T>C4508MT-ATP6Likely benignrs1603221648RCV000854268; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86268626M:g.8626T>C-
NC_012920.1(MT-ATP6):m.8632T>C4508MT-ATP6Benignrs1603221654RCV000854269; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86328632M:g.8632T>C-
NC_012920.1(MT-ATP6):m.8635C>T4508MT-ATP6Likely benignrs1603221661RCV000854270; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86358635M:g.8635C>T-
NC_012920.1(MT-ATP6):m.8638A>G4508MT-ATP6Likely benignrs1556423508RCV000854271; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86388638M:g.8638A>G-
NC_012920.1(MT-ATP6):m.8639T>C4508MT-ATP6Benignrs200047468RCV000854272; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86398639M:g.8639T>C-
NC_012920.1(MT-ATP6):m.8641A>G4508MT-ATP6Uncertain significancers1603221662RCV000854273; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86418641M:g.8641A>G-
NC_012920.1(MT-ATP6):m.8642A>C4508MT-ATP6Uncertain significancers1603221663RCV000854275; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86428642M:g.8642A>C-
NC_012920.1(MT-ATP6):m.8642A>G4508MT-ATP6Benignrs1603221663RCV000854274; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86428642M:g.8642A>G-
NC_012920.1(MT-ATP6):m.8648G>A4508MT-ATP6Likely benignrs28479867RCV000854276; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86488648M:g.8648G>A-
NC_012920.1:m.8651T>C4508MT-ATP6Uncertain significancers1556423512RCV000509112|RCV000854277; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86518651M:g.8651T>CClinGen:CA414797179CN517202 not provided;
NC_012920.1(MT-ATP6):m.8653A>G4508MT-ATP6Benignrs1603221669RCV000854278; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86538653M:g.8653A>G-
NC_012920.1(MT-ATP6):m.8654T>C4508MT-ATP6Benignrs200811540RCV000854279; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86548654M:g.8654T>C-
NC_012920.1(MT-ATP6):m.8656A>G4508MT-ATP6Likely benignrs1603221673RCV000854280; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86568656M:g.8656A>G-
NC_012920.1(MT-ATP6):m.8657C>T4508MT-ATP6Likely benignrs1603221675RCV000854281; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86578657M:g.8657C>T-
NC_012920.1(MT-ATP6):m.8659A>G4508MT-ATP6Benignrs879150284RCV000854282; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86598659M:g.8659A>G-
NC_012920.1(MT-ATP6):m.8666A>G4508MT-ATP6Likely benignrs1603221681RCV000854283; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86668666M:g.8666A>G-
NC_012920.1(MT-ATP6):m.8668T>C4508MT-ATP6Benignrs1603221688RCV000854284; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86688668M:g.8668T>C-
NC_012920.1(MT-ATP6):m.8679A>C4508MT-ATP6Likely benignrs386829045RCV000854285; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86798679M:g.8679A>C-
NC_012920.1(MT-ATP6):m.8681T>C4508MT-ATP6Benignrs1603221696RCV000854286; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86818681M:g.8681T>C-
NC_012920.1(MT-ATP6):m.8683A>G4508MT-ATP6Benignrs1603221698RCV000854287; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86838683M:g.8683A>G-
NC_012920.1(MT-ATP6):m.8684C>T4508MT-ATP6Benignrs201336180RCV000854288; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86848684M:g.8684C>T-
NC_012920.1(MT-ATP6):m.8697G>T4508MT-ATP6Uncertain significancers879233543RCV000854290; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86978697M:g.8697G>T-
NC_012920.1(MT-ATP6):m.8699T>C4508MT-ATP6Uncertain significancers1603221710RCV000854291; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86998699M:g.8699T>C-
NC_012920.1(MT-ATP6):m.8700A>T4508MT-ATP6Uncertain significancers1603221711RCV000854292; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87008700M:g.8700A>T-
NC_012920.1(MT-ATP6):m.8701A>G4508MT-ATP6Benignrs2000975RCV000854293; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87018701M:g.8701A>G-
NC_012920.1(MT-ATP6):m.8702C>T4508MT-ATP6Benignrs1603221713RCV000854294; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87028702M:g.8702C>T-
NC_012920.1(MT-ATP6):m.8704A>G4508MT-ATP6Conflicting interpretations of pathogenicityrs878852994RCV000224912|RCV000854295; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87048704M:g.8704A>GClinGen:CA10581258CN517202 not provided;
NC_012920.1(MT-ATP6):m.8705T>C4508MT-ATP6Benignrs878959404RCV000854296; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87058705M:g.8705T>C-
NC_012920.1(MT-ATP6):m.8711A>G4508MT-ATP6Likely benignrs1556423524RCV000854297; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87118711M:g.8711A>G-
NC_012920.1(MT-ATP6):m.8713A>G4508MT-ATP6Likely benignrs1603221721RCV000854298; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87138713M:g.8713A>G-
NC_012920.1(MT-ATP6):m.8714C>T4508MT-ATP6Uncertain significancers1603221724RCV000854299; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87148714M:g.8714C>T-
NC_012920.1(MT-ATP6):m.8720G>A4508MT-ATP6Uncertain significancers1603221728RCV000854302; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87208720M:g.8720G>A-
NC_012920.1(MT-ATP6):m.8720G>C4508MT-ATP6Uncertain significancers1603221728RCV000854301; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87208720M:g.8720G>C-
NC_012920.1(MT-ATP6):m.8722C>T4508MT-ATP6Uncertain significancers1603221733RCV000854303; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87228722M:g.8722C>T-
NC_012920.1(MT-ATP6):m.8723G>A4508MT-ATP6Benignrs1603221734RCV000854304; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87238723M:g.8723G>A-
NC_012920.1(MT-ATP6):m.8725A>G4508MT-ATP6Benignrs879216744RCV000854305; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87258725M:g.8725A>G-
NC_012920.1(MT-ATP6):m.8728T>C4508MT-ATP6Uncertain significancers1603221742RCV000854306; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87288728M:g.8728T>C-
NC_012920.1(MT-ATP6):m.8731T>A4508MT-ATP6Uncertain significancers1603221746RCV000854307; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87318731M:g.8731T>A-
NC_012920.1(MT-ATP6):m.8735T>C4508MT-ATP6Uncertain significancers1603221752RCV000854308; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87358735M:g.8735T>C-
NC_012920.1(MT-ATP6):m.8737A>G4508MT-ATP6Uncertain significancers1603221754RCV000854309; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87378737M:g.8737A>G-
NC_012920.1(MT-ATP6):m.8744T>C4508MT-ATP6Uncertain significancers1603221756RCV000854310; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87448744M:g.8744T>C-
NC_012920.1(MT-ATP6):m.8746T>C4508MT-ATP6Uncertain significancers1603221761RCV000854311; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87468746M:g.8746T>C-
NC_012920.1(MT-ATP6):m.8750T>C4508MT-ATP6Likely benignrs1603221765RCV000854312; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87508750M:g.8750T>C-
NC_012920.1(MT-ATP6):m.8752A>G4508MT-ATP6Benignrs1603221770RCV000854313; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87528752M:g.8752A>G-
NC_012920.1(MT-ATP6):m.8756T>C4508MT-ATP6Benignrs1556423532RCV000854314; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87568756M:g.8756T>C-
NC_012920.1(MT-ATP6):m.8761A>C4508MT-ATP6Uncertain significancers1603221776RCV000854315; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87618761M:g.8761A>C-
NC_012920.1(MT-ATP6):m.8762T>C4508MT-ATP6Benignrs1603221778RCV000854316; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87628762M:g.8762T>C-
NC_012920.1(MT-ATP6):m.8764G>A4508MT-ATP6Benignrs1556423534RCV000854317; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87648764M:g.8764G>A-
NC_012920.1(MT-ATP6):m.8765C>T4508MT-ATP6Likely benignrs1603221781RCV000854318; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87658765M:g.8765C>T-
NC_012920.1(MT-ATP6):m.8767A>G4508MT-ATP6Likely benignrs1603221783RCV000854319; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87678767M:g.8767A>G-
NC_012920.1(MT-ATP6):m.8768C>T4508MT-ATP6Benignrs386829048RCV000854320; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87688768M:g.8768C>T-
NC_012920.1(MT-ATP6):m.8782G>A4508MT-ATP6Uncertain significancers1603221801RCV000854321; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87828782M:g.8782G>A-
NC_012920.1(MT-ATP6):m.8783G>A4508MT-ATP6Pathogenic/Likely pathogenicrs1603221804RCV000854322|RCV002249549; NMONDO: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:104M87838783M:g.8783G>A-
NC_012920.1(MT-ATP6):m.8785C>G4508MT-ATP6Uncertain significancers1603221807RCV000854324; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87858785M:g.8785C>G-
NC_012920.1(MT-ATP6):m.8785C>T4508MT-ATP6Uncertain significancers1603221807RCV000854323; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87858785M:g.8785C>T-
NC_012920.1(MT-ATP6):m.8789T>C4508MT-ATP6Uncertain significancers1603221811RCV000854325; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87898789M:g.8789T>C-
NC_012920.1(MT-ATP6):m.8794C>T4508MT-ATP6Benignrs2298007RCV000854326; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87948794M:g.8794C>T-
NC_012920.1(MT-ATP6):m.8800T>G4508MT-ATP6Uncertain significancers1569484239RCV000854327; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88008800M:g.8800T>G-
NC_012920.1(MT-ATP6):m.8803A>T4508MT-ATP6Conflicting interpretations of pathogenicityrs878853020RCV000224874|RCV000854329; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88038803M:g.8803A>TClinGen:CA10581289CN517202 not provided;
NC_012920.1(MT-ATP6):m.8803A>G4508MT-ATP6Likely benignrs878853020RCV000854328; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88038803M:g.8803A>G-
NC_012920.1(MT-ATP6):m.8812A>G4508MT-ATP6Benignrs1556423543RCV000854330; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88128812M:g.8812A>G-
NC_012920.1(MT-ATP6):m.8812A>T4508MT-ATP6Uncertain significancers1556423543RCV000854331; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88128812M:g.8812A>T-
NC_012920.1(MT-ATP6):m.8821T>C4508MT-ATP6Uncertain significancers1603221825RCV000854332; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88218821M:g.8821T>C-
NC_012920.1(MT-ATP6):m.8824A>G4508MT-ATP6Uncertain significancers1603221827RCV000854333; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88248824M:g.8824A>G-
NC_012920.1(MT-ATP6):m.8825T>C4508MT-ATP6Uncertain significancers1603221830RCV000854334; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88258825M:g.8825T>C-
NC_012920.1(MT-ATP6):m.8836A>G4508MT-ATP6Benignrs1603221835RCV000854335; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88368836M:g.8836A>G-
NC_012920.1:m.8839G>C4508MT-ATP6Pathogenicrs1556423547RCV000144024|RCV000495688; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M88398839M:g.8839G>CClinGen:CA345921C0023264 256000 Leigh syndrome;
NC_012920.1(MT-ATP6):m.8839G>A4508MT-ATP6Benignrs1556423547RCV000854336; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88398839M:g.8839G>A-
NC_012920.1(MT-ATP6):m.8840C>T4508MT-ATP6Uncertain significancers1603221837RCV000854337; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88408840M:g.8840C>T-
NC_012920.1(MT-ATP6):m.8842A>C4508MT-ATP6Likely benignrs386829052RCV000854338; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88428842M:g.8842A>C-
NC_012920.1(MT-ATP6):m.8842A>G4508MT-ATP6Benignrs386829052RCV000854339; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88428842M:g.8842A>G-
NC_012920.1(MT-ATP6):m.8843T>C4508MT-ATP6Benignrs386829053RCV000854340; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88438843M:g.8843T>C-
NC_012920.1(MT-ATP6):m.8844C>A4508MT-ATP6Uncertain significancers1603221840RCV000854341; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88448844M:g.8844C>A-
NC_012920.1:m.8851T>C4508MT-ATP6Uncertain significancers199476136RCV000010280|RCV000144005|RCV001268336|RCV001542705|RCV002221472; YMONDO:MONDO:0010774,MedGen:C1839022,OMIM:500003|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, OrphanetM88518851M:g.8851T>CClinGen:CA120598,OMIM:516060.0006C0023264 256000 Leigh syndrome;
NC_012920.1(MT-ATP6):m.8854G>A4508MT-ATP6Benignrs386829055RCV000854342; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88548854M:g.8854G>A-
NC_012920.1(MT-ATP6):m.8857G>A4508MT-ATP6Benignrs201017581RCV000854343; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88578857M:g.8857G>A-
NC_012920.1(MT-ATP6):m.8860A>G4508MT-ATP6Benignrs2001031RCV000854344; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88608860M:g.8860A>G-
NC_012920.1(MT-ATP6):m.8863G>A4508MT-ATP6Uncertain significancers1603221852RCV000854345; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88638863M:g.8863G>A-
NC_012920.1(MT-ATP6):m.8864T>C4508MT-ATP6Benignrs1556423555RCV000854346; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88648864M:g.8864T>C-
NC_012920.1(MT-ATP6):m.8866A>G4508MT-ATP6Benignrs1603221856RCV000854347; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88668866M:g.8866A>G-
NC_012920.1(MT-ATP6):m.8868T>A4508MT-ATP6Uncertain significancers1556423556RCV000854348; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88688868M:g.8868T>A-
NC_012920.1(MT-ATP6):m.8869A>G4508MT-ATP6Benignrs41432347RCV000854349; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88698869M:g.8869A>G-
NC_012920.1(MT-ATP6):m.8870T>C4508MT-ATP6Benignrs1556423560RCV000854350; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88708870M:g.8870T>C-
NC_012920.1(MT-ATP6):m.8873G>C4508MT-ATP6Uncertain significancers1603221864RCV000854351; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88738873M:g.8873G>C-
NC_012920.1(MT-ATP6):m.8875T>C4508MT-ATP6Benignrs201123510RCV000854352; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88758875M:g.8875T>C-
NC_012920.1(MT-ATP6):m.8879G>A4508MT-ATP6Uncertain significancers1603221870RCV000854353; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88798879M:g.8879G>A-
NC_012920.1(MT-ATP6):m.8887A>G4508MT-ATP6Benignrs1556423565RCV000854354; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88878887M:g.8887A>G-
NC_012920.1(MT-ATP6):m.8888T>C4508MT-ATP6Likely benignrs1603221880RCV000854355; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88888888M:g.8888T>C-
NC_012920.1(MT-ATP6):m.8895T>A4508MT-ATP6Likely benignrs1603221884RCV000854356; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88958895M:g.8895T>A-
NC_012920.1(MT-ATP6):m.8896G>A4508MT-ATP6Benignrs202120082RCV000854357; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88968896M:g.8896G>A-
NC_012920.1(MT-ATP6):m.8897C>T4508MT-ATP6Benignrs1603221889RCV000854358; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88978897M:g.8897C>T-
NC_012920.1(MT-ATP6):m.8906A>C4508MT-ATP6Uncertain significancers1603221897RCV000854359; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89068906M:g.8906A>C-
NC_012920.1(MT-ATP6):m.8908T>C4508MT-ATP6Likely benignrs1603221898RCV000854360; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89088908M:g.8908T>C-
NC_012920.1(MT-ATP6):m.8910C>A4508MT-ATP6Benignrs1603221899RCV000854361; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89108910M:g.8910C>A-
NC_012920.1(MT-ATP6):m.8920G>A4508MT-ATP6Uncertain significancers28406348RCV000854362; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89208920M:g.8920G>A-
NC_012920.1(MT-ATP6):m.8921G>A4508MT-ATP6Uncertain significancers2298008RCV000854363; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89218921M:g.8921G>A-
NC_012920.1(MT-ATP6):m.8923A>G4508MT-ATP6Likely benignrs200329150RCV000854364; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89238923M:g.8923A>G-
NC_012920.1(MT-ATP6):m.8930C>T4508MT-ATP6Likely benignrs1603221915RCV000854365; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89308930M:g.8930C>T-
NC_012920.1(MT-ATP6):m.8932C>T4508MT-ATP6Benignrs878853013RCV000224223|RCV000854366|RCV001526415; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M89328932M:g.8932C>TClinGen:CA10581280CN517202 not provided;
NC_012920.1(MT-ATP6):m.8933C>T4508MT-ATP6Uncertain significancers1603221918RCV000854367; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89338933M:g.8933C>T-
NC_012920.1(MT-ATP6):m.8935C>T4508MT-ATP6Uncertain significancers28377547RCV000854368; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89358935M:g.8935C>T-
NC_012920.1(MT-ATP6):m.8936T>C4508MT-ATP6Uncertain significancers1603221920RCV000854369; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89368936M:g.8936T>C-
NC_012920.1(MT-ATP6):m.8938A>G4508MT-ATP6Benignrs1603221923RCV000854370; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89388938M:g.8938A>G-
NC_012920.1(MT-ATP6):m.8939T>C4508MT-ATP6Likely benignrs1603221925RCV000854371; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89398939M:g.8939T>C-
NC_012920.1(MT-ATP6):m.8941C>T4508MT-ATP6Uncertain significancers1603221928RCV000854372; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89418941M:g.8941C>T-
NC_012920.1(MT-ATP6):m.8944A>G4508MT-ATP6Likely benignrs1603221929RCV000854373; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89448944M:g.8944A>G-
NC_012920.1:m.8950G>A4508MT-ATP6Benignrs1556423574RCV000766134|RCV000854374; NHuman Phenotype Ontology:HP:0001647,MedGen:C0149630|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89508950m.8950G>A-
NC_012920.1(MT-ATP6):m.8951T>C4508MT-ATP6Uncertain significancers1603221934RCV000854375; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89518951M:g.8951T>C-
NC_012920.1(MT-ATP6):m.8953A>G4508MT-ATP6Uncertain significancers1603221936RCV000854376; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89538953M:g.8953A>G-
NC_012920.1(MT-ATP6):m.8954T>C4508MT-ATP6Uncertain significancers1556423576RCV000854377; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89548954M:g.8954T>C-
NC_012920.1(MT-ATP6):m.8959G>A4508MT-ATP6Uncertain significancers1603221944RCV000854378; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89598959M:g.8959G>A-
NC_012920.1(MT-ATP6):m.8962A>G4508MT-ATP6Benignrs1603221945RCV000854379; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89628962M:g.8962A>G-
NC_012920.1(MT-ATP6):m.8966T>C4508MT-ATP6Likely benignrs1556423580RCV000854380; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89668966M:g.8966T>C-
NC_012920.1(MT-ATP6):m.8972T>C4508MT-ATP6Uncertain significancers1603221948RCV000854382; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89728972M:g.8972T>C-
NC_012920.1(MT-ATP6):m.8974C>G4508MT-ATP6Likely benignrs1603221949RCV000854383; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89748974M:g.8974C>G-
NC_012920.1(MT-ATP6):m.8975T>C4508MT-ATP6Likely benignrs1981459RCV000854384|RCV001824896; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN043634M89758975M:g.8975T>C-
NC_012920.1(MT-ATP6):m.8978T>C4508MT-ATP6Benignrs1603221954RCV000854385; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89788978M:g.8978T>C-
NC_012920.1(MT-ATP6):m.8981A>G4508MT-ATP6Likely benignrs1603221955RCV000854386; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89818981M:g.8981A>G-
NC_012920.1(MT-ATP6):m.8986A>G4508MT-ATP6Likely benignrs1603221956RCV000854387; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89868986M:g.8986A>G-
NC_012920.1(MT-ATP6):m.8987T>C4508MT-ATP6Likely benignrs1603221957RCV000854388; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89878987M:g.8987T>C-
NC_012920.1:m.8989G>C4508MT-ATP6not providedrs587776444RCV000144025; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89898989M:g.8989G>CClinGen:CA345922C0023264 256000 Leigh syndrome;
NC_012920.1(MT-ATP6):m.8989G>A4508MT-ATP6Likely benignrs587776444RCV000854389; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89898989M:g.8989G>A-
NC_012920.1:m.8993T>G4508MT-ATP6Pathogenicrs199476133RCV000010273|RCV000010274|RCV000191106|RCV000224643|RCV000414771|RCV000495419|RCV000754646|RCV001376274|RCV001542706|RCV002285006; YMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0010794,MedGen:C1328349,OMIM:551500, Orphanet:644|Human Phenotype Ontology:HP:0001251,Human Phenotype Ontology:HP:0001253,Human Phenotype Ontology:HP:0002513,Human Phenotype OntologM89938993M:g.8993T>GClinGen:CA250380,OMIM:516060.0001C1398522 Bilateral cleft lip and palate;
NC_012920.1:m.8993T>C4508MT-ATP6Pathogenicrs199476133RCV000010276|RCV000010275|RCV000495030|RCV000754647|RCV000854390|RCV001268873|RCV002247300; YMONDO:MONDO:0010781,MedGen:C1838916,OMIM:500010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0027069,MedGen:C3275684,OMIM:500015|MONDO:MONDO:0010794,MedGen:C1328349,OMIM:5515M89938993M:g.8993T>COMIM:516060.0002,ClinGen:CA120596C1838916 500010 Ataxia and polyneuropathy, adult-onset;
NC_012920.1(MT-ATP6):m.8998G>A4508MT-ATP6Benignrs376792657RCV000854392; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89988998M:g.8998G>A-
NC_012920.1(MT-ATP6):m.8999T>C4508MT-ATP6Likely benignrs1603221963RCV000854393; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89998999M:g.8999T>C-
NC_012920.1(MT-ATP6):m.9005T>C4508MT-ATP6Uncertain significancers1603221971RCV000854394; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90059005M:g.9005T>C-
NC_012920.1(MT-ATP6):m.9007A>G4508MT-ATP6Benignrs1603221973RCV000854395; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90079007M:g.9007A>G-
NC_012920.1(MT-ATP6):m.9007A>T4508MT-ATP6Likely benignrs1603221973RCV000854396; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90079007M:g.9007A>T-
NC_012920.1(MT-ATP6):m.9010G>A4508MT-ATP6Likely benignrs1556423589RCV000854397; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90109010M:g.9010G>A-
NC_012920.1(MT-ATP6):m.9014A>G4508MT-ATP6Uncertain significancers1603221980RCV000854398; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90149014M:g.9014A>G-
NC_012920.1(MT-ATP6):m.9016A>G4508MT-ATP6Likely benignrs1556423591RCV000854399; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90169016M:g.9016A>G-
NC_012920.1(MT-ATP6):m.9019A>G4508MT-ATP6Uncertain significancers1603221982RCV000854400; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90199019M:g.9019A>G-
NC_012920.1(MT-ATP6):m.9025G>A4508MT-ATP6Benignrs28681063RCV000854401; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90259025M:g.9025G>A-
NC_012920.1(MT-ATP6):m.9026G>A4508MT-ATP6Uncertain significancers1603221987RCV000854402|RCV001526416; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M90269026M:g.9026G>A-
NC_012920.1(MT-ATP6):m.9028C>T4508MT-ATP6Uncertain significancers1603221990RCV000854403; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90289028M:g.9028C>T-
NC_012920.1(MT-ATP6):m.9029A>G4508MT-ATP6Uncertain significancers1603221991RCV000854404; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90299029M:g.9029A>G-
NC_012920.1(MT-ATP6):m.9032T>C4508MT-ATP6Uncertain significancers1603221994RCV000854405|RCV001003642|RCV001796801; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0001272,Human Phenotype Ontology:HP:0002364,Human Phenotype Ontology:HP:0006839,Human Phenotype Ontology:HP:0007072,Human Phenotype Ontology:HP:0007203,MedGen:C0740M90329032M:g.9032T>C-
NC_012920.1(MT-ATP6):m.9035T>C4508MT-ATP6Likely pathogenicrs1603222000RCV000851177|RCV000854406|RCV001196557|RCV002249546|RCV002260672|RCV002466594; YHuman Phenotype Ontology:HP:0001329,Human Phenotype Ontology:HP:0002073,Human Phenotype Ontology:HP:0002496,Human Phenotype Ontology:HP:0007331,MedGen:C0393525|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506||Human Phenotype Ontology:HP:000M90359035M:g.9035T>C-
NC_012920.1(MT-ATP6):m.9038T>C4508MT-ATP6Conflicting interpretations of pathogenicityrs1603222003RCV000854407|RCV001196451; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|M90389038M:g.9038T>C-
NC_012920.1:m.9041A>G4508MT-ATP6Benignrs879244322RCV000509426|RCV000854408; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90419041M:g.9041A>GClinGen:CA337098147CN517202 not provided;
NC_012920.1(MT-ATP6):m.9047T>C4508MT-ATP6Uncertain significancers1603222008RCV000854409; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90479047M:g.9047T>C-
NC_012920.1(MT-ATP6):m.9049G>A4508MT-ATP6Likely pathogenicrs1603222011RCV000854410|RCV000993792; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0007199,MedGen:C0747251; Human Phenotype Ontology:HP:0012751,MedGen:C4022745; Human Phenotype Ontology:HP:0000133,Human Phenotype Ontology:HP:0003243,MONDO:MONDO:0001M90499049M:g.9049G>A-
NC_012920.1(MT-ATP6):m.9052A>G4508MT-ATP6Benignrs1556423597RCV000854411; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90529052M:g.9052A>G-
NC_012920.1(MT-ATP6):m.9053G>A4508MT-ATP6Benignrs199646902RCV000854412; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90539053M:g.9053G>A-
NC_012920.1(MT-ATP6):m.9055G>A4508MT-ATP6Benignrs193303045RCV000854413|RCV001796802; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M90559055M:g.9055G>A-
NC_012920.1(MT-ATP6):m.9056C>T4508MT-ATP6Benignrs1603222017RCV000854414; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90569056M:g.9056C>T-
NC_012920.1(MT-ATP6):m.9058A>C4508MT-ATP6Uncertain significancers1556423599RCV000854416; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90589058M:g.9058A>C-
NC_012920.1(MT-ATP6):m.9058A>G4508MT-ATP6Benignrs1556423599RCV000854415; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90589058M:g.9058A>G-
NC_012920.1(MT-ATP6):m.9064G>A4508MT-ATP6Benignrs386420013RCV000854417; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90649064M:g.9064G>A-
NC_012920.1(MT-ATP6):m.9067A>G4508MT-ATP6Benignrs1603222028RCV000854418; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90679067M:g.9067A>G-
NC_012920.1(MT-ATP6):m.9070T>C4508MT-ATP6Uncertain significancers879190502RCV000854419; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90709070M:g.9070T>C-
NC_012920.1(MT-ATP6):m.9070T>G4508MT-ATP6Benignrs879190502RCV000854420; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90709070M:g.9070T>G-
NC_012920.1(MT-ATP6):m.9071C>T4508MT-ATP6Likely benignrs1603222032RCV000854421; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90719071M:g.9071C>T-
NC_012920.1(MT-ATP6):m.9073A>C4508MT-ATP6Uncertain significancers1556423603RCV000854422; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90739073M:g.9073A>C-
NC_012920.1(MT-ATP6):m.9077T>C4508MT-ATP6Benignrs1603222037RCV000854423; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90779077M:g.9077T>C-
NC_012920.1(MT-ATP6):m.9079A>G4508MT-ATP6Likely benignrs1603222038RCV000854424; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90799079M:g.9079A>G-
NC_012920.1(MT-ATP6):m.9080A>G4508MT-ATP6Benignrs1556423607RCV000854425; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90809080M:g.9080A>G-
NC_012920.1(MT-ATP6):m.9082C>T4508MT-ATP6Uncertain significancers1603222043RCV000854426; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90829082M:g.9082C>T-
NC_012920.1(MT-ATP6):m.9083T>C4508MT-ATP6Benignrs1603222045RCV000854427; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90839083M:g.9083T>C-
NC_012920.1(MT-ATP6):m.9085C>A4508MT-ATP6Uncertain significancers1603222048RCV000854428; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90859085M:g.9085C>A-
NC_012920.1(MT-ATP6):m.9086C>T4508MT-ATP6Uncertain significancers1603222049RCV000854429; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90869086M:g.9086C>T-
NC_012920.1(MT-ATP6):m.9088T>C4508MT-ATP6Benignrs370460521RCV000854430; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90889088M:g.9088T>C-
NC_012920.1(MT-ATP6):m.9091A>G4508MT-ATP6Conflicting interpretations of pathogenicityrs1057520079RCV000423626|RCV000854431; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90919091M:g.9091A>GClinGen:CA16603197CN517202 not provided;
NC_012920.1(MT-ATP6):m.9094C>T4508MT-ATP6Benignrs1603222055RCV000854432; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90949094M:g.9094C>T-
NC_012920.1(MT-ATP6):m.9095T>C4508MT-ATP6Likely benignrs1603222056RCV000854433; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90959095M:g.9095T>C-
NC_012920.1(MT-ATP6):m.9097A>G4508MT-ATP6Benignrs1603222059RCV000854434; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90979097M:g.9097A>G-
NC_012920.1(MT-ATP6):m.9098T>C4508MT-ATP6Benignrs201559119RCV000854435; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90989098M:g.9098T>C-
NC_012920.1(MT-ATP6):m.9098T>G4508MT-ATP6Benignrs201559119RCV000854436; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90989098M:g.9098T>G-
NC_012920.1(MT-ATP6):m.9099C>A4508MT-ATP6Uncertain significancers1603222065RCV000854437; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90999099M:g.9099C>A-
NC_012920.1(MT-ATP6):m.9100A>G4508MT-ATP6Benignrs1603222068RCV000854438; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91009100M:g.9100A>G-
m.9101T>C4508MT-ATP6Benignrs199476134RCV000010277|RCV000854439; NHuman 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:506M91019101M:g.9101T>CClinGen:CA340927,OMIM:516060.0003C0917796 535000 Leber's optic atrophy;
NC_012920.1(MT-ATP6):m.9101T>G4508MT-ATP6Benignrs199476134RCV000854440; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91019101M:g.9101T>G-
NC_012920.1(MT-ATP6):m.9103T>C4508MT-ATP6Benignrs1603222077RCV000854441; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91039103M:g.9103T>C-
NC_012920.1(MT-ATP6):m.9104T>C4508MT-ATP6Uncertain significancers1603222079RCV000854442; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91049104M:g.9104T>C-
NC_012920.1(MT-ATP6):m.9106A>G4508MT-ATP6Uncertain significancers1603222082RCV000854443; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91069106M:g.9106A>G-
NC_012920.1(MT-ATP6):m.9110T>C4508MT-ATP6Benignrs1603222087RCV000854444; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91109110M:g.9110T>C-
NC_012920.1(MT-ATP6):m.9115A>G4508MT-ATP6Benignrs1603222091RCV000854445; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91159115M:g.9115A>G-
NC_012920.1(MT-ATP6):m.9116T>C4508MT-ATP6Benignrs376203575RCV000854446; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91169116M:g.9116T>C-
NC_012920.1(MT-ATP6):m.9122T>G4508MT-ATP6Uncertain significancers1603222104RCV000854447; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91229122M:g.9122T>G-
NC_012920.1(MT-ATP6):m.9125C>T4508MT-ATP6Uncertain significancers1603222109RCV000854448; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91259125M:g.9125C>T-
NC_012920.1(MT-ATP6):m.9127A>G4508MT-ATP6Benignrs199732761RCV000854449; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91279127M:g.9127A>G-
NC_012920.1(MT-ATP6):m.9128T>C4508MT-ATP6Benignrs878867946RCV000854450; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91289128M:g.9128T>C-
NC_012920.1(MT-ATP6):m.9130C>A4508MT-ATP6Likely benignrs1603222113RCV000854451; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91309130M:g.9130C>A-
NC_012920.1(MT-ATP6):m.9133G>A4508MT-ATP6Uncertain significancers1603222118RCV000854452; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91339133M:g.9133G>A-
NC_012920.1(MT-ATP6):m.9134A>G4508MT-ATP6Likely pathogenicrs1603222119RCV000854453; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91349134M:g.9134A>G-
NC_012920.1(MT-ATP6):m.9137T>C4508MT-ATP6Benignrs1603222121RCV000854454; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91379137M:g.9137T>C-
NC_012920.1(MT-ATP6):m.9139G>A4508MT-ATP6Benignrs879243938RCV000854455; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91399139M:g.9139G>A-
NC_012920.1(MT-ATP6):m.9140C>T4508MT-ATP6Uncertain significancers878972895RCV000854456; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91409140M:g.9140C>T-
NC_012920.1(MT-ATP6):m.9142G>A4508MT-ATP6Benignrs200660596RCV000854457; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91429142M:g.9142G>A-
NC_012920.1(MT-ATP6):m.9145G>A4508MT-ATP6Benignrs1556423622RCV000854458; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91459145M:g.9145G>A-
NC_012920.1(MT-ATP6):m.9151A>G4508MT-ATP6Benignrs879206297RCV000854459; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91519151M:g.9151A>G-
NC_012920.1:m.9152T>C4508MT-ATP6Conflicting interpretations of pathogenicityrs878853096RCV000224169|RCV000709942|RCV000854460; NMedGen:CN517202||MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91529152M:g.9152T>CClinGen:CA10581404CN517202 not provided;
NC_012920.1(MT-ATP6):m.9155A>G4508MT-ATP6Likely pathogenic-1RCV002291223|RCV002537703; YMONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M915591559155-
NC_012920.1:m.9157G>A4508MT-ATP6Likely benignrs1556423625RCV000509437|RCV000854461; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91579157M:g.9157G>AClinGen:CA414802320CN517202 not provided;
NC_012920.1(MT-ATP6):m.9160T>C4508MT-ATP6Uncertain significancers1603222140RCV000854462; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91609160M:g.9160T>C-
NC_012920.1(MT-ATP6):m.9163G>A4508MT-ATP6Benignrs2298010RCV000854463; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91639163M:g.9163G>A-
NC_012920.1:m.9166T>C4508MT-ATP6Uncertain significancers1057516063RCV000408929|RCV000854464|RCV001090137; NHuman Phenotype Ontology:HP:0001138,Human Phenotype Ontology:HP:0007806,MONDO:MONDO:0002135,MedGen:C3887709|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M91669166M:g.9166T>CClinGen:CA16040651C3887709 Optic neuropathy;
NC_012920.1(MT-ATP6):m.9167T>C4508MT-ATP6Uncertain significancers1603222143RCV000854465; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91679167M:g.9167T>C-
NC_012920.1(MT-ATP6):m.9169A>G4508MT-ATP6Uncertain significancers1603222145RCV000854466; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91699169M:g.9169A>G-
NC_012920.1(MT-ATP6):m.9170C>T4508MT-ATP6Uncertain significancers1603222148RCV000854467; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91709170M:g.9170C>T-
NC_012920.1:m.9176T>C4508MT-ATP6Pathogenicrs199476135RCV000010278|RCV000010279|RCV000754652|RCV001027501|RCV001542707|RCV002251425|RCV002260585; YMONDO:MONDO:0010774,MedGen:C1839022,OMIM:500003|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0027069,MedGen:C3275684,OMIM:500015|MedGen:CN517202|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MOM91769176M:g.9176T>CClinGen:CA120597,OMIM:516060.0005C0023264 256000 Leigh syndrome;
NC_012920.1:m.9176T>G4508MT-ATP6Likely pathogenicrs199476135RCV000010285|RCV000754649|RCV001542708|RCV001543462|RCV002221473; YMONDO: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:CN51M91769176M:g.9176T>GClinGen:CA340929,OMIM:516060.0011C0023264 256000 Leigh syndrome;
NC_012920.1(MT-ATP6):m.9179T>C4508MT-ATP6Uncertain significancers1603222150RCV000854468; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91799179M:g.9179T>C-
NC_012920.1(MT-ATP6):m.9181A>G4508MT-ATP6Benignrs1556423628RCV000854469; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91819181M:g.9181A>G-
NC_012920.1(MT-ATP6):m.9182G>A4508MT-ATP6Benignrs1556423629RCV000854470; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91829182M:g.9182G>A-
NC_012920.1:m.9185T>C4508MT-ATP6Pathogenicrs199476138RCV000010282|RCV000240612|RCV000495689|RCV000754648|RCV001267926|RCV001542709|RCV002267606; YMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0027069,MedGen:C3275684,OMIM:500015|MedGen:CN517202|Human PhenotypM91859185M:g.9185T>CClinGen:CA340928,OMIM:516060.0008C0007959 Charcot-Marie-Tooth disease;
NC_012920.1(MT-ATP6):m.9188A>G4508MT-ATP6Uncertain significancers1603222161RCV000854471; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91889188M:g.9188A>G-
NC_012920.1:m.9191T>C4508MT-ATP6Likely pathogenicrs1556423632RCV000144006|RCV002221481; YMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M91919191m.9191T>CClinGen:CA345914C0023264 256000 Leigh syndrome;
NC_012920.1(MT-ATP6):m.9194A>G4508MT-ATP6Uncertain significancers1603222162RCV000854472; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91949194M:g.9194A>G-
NC_012920.1(MT-ATP6):m.9196G>A4508MT-ATP6Benignrs374870159RCV000854473; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91969196M:g.9196G>A-
NC_012920.1(MT-ATP6):m.9202A>G4508MT-ATP6Uncertain significancers1603222169RCV000854474; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92029202M:g.9202A>G-
NC_012920.1(MT-ATP6):m.9205T>C4508MT-ATP6Uncertain significancers1603222171RCV000854475; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92059205M:g.9205T>C-
NC_012920.1:m.8530A>G-1MT-ATP6;MT-ATP8Likely benignrs1556423480RCV000854220; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85308530M:g.8530A>G-
NC_012920.1:m.8531A>G-1MT-ATP6;MT-ATP8Likely benignrs1556423481RCV000854221; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85318531M:g.8531A>G-
NC_012920.1:m.8533G>A-1MT-ATP6;MT-ATP8Likely benignrs386829039RCV000854222; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85338533M:g.8533G>A-
NC_012920.1:m.8537A>G-1MT-ATP6;MT-ATP8Benignrs1603221571RCV000854223; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85378537M:g.8537A>G-
NC_012920.1:m.8540T>C-1MT-ATP6;MT-ATP8Uncertain significancers878852987RCV000224948|RCV000854224; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85408540M:g.8540T>CClinGen:CA10581248CN517202 not provided;
NC_012920.1:m.8541G>A-1MT-ATP6;MT-ATP8Benignrs1569484218RCV000854225; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85418541M:g.8541G>A-
NC_012920.1:m.8542T>C-1MT-ATP6;MT-ATP8Benignrs1603221575RCV000854226; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85428542M:g.8542T>C-
NC_012920.1:m.8547T>C-1MT-ATP6;MT-ATP8Likely benignrs1603221579RCV000854228; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85478547M:g.8547T>C-
NC_012920.1:m.8548T>C-1MT-ATP6;MT-ATP8Benignrs1603221580RCV000854229; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85488548M:g.8548T>C-
NC_012920.1:m.8550A>G-1MT-ATP6;MT-ATP8Uncertain significancers1603221581RCV000854230; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85508550M:g.8550A>G-
NC_012920.1:m.8551T>C-1MT-ATP6;MT-ATP8Likely benignrs1556423486RCV000854231; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85518551M:g.8551T>C-
NC_012920.1:m.8552T>C-1MT-ATP6;MT-ATP8Benignrs1603221582RCV000854232; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85528552M:g.8552T>C-
NC_012920.1:m.8554A>G-1MT-ATP6;MT-ATP8Likely benignrs1603221583RCV000854234; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85548554M:g.8554A>G-
NC_012920.1:m.8557G>C-1MT-ATP6;MT-ATP8Likely benignrs386829040RCV000854236; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85578557M:g.8557G>C-
NC_012920.1:m.8562C>T-1MT-ATP6;MT-ATP8Benignrs1603221584RCV000854237; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85628562M:g.8562C>T-
NC_012920.1:m.8563A>G-1MT-ATP6;MT-ATP8Benignrs386829041RCV000854238; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85638563M:g.8563A>G-
NC_012920.1:m.8566A>G-1MT-ATP6;MT-ATP8Benignrs3020563RCV000854239; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85668566M:g.8566A>G-
NC_012920.1:m.8567T>C-1MT-ATP6;MT-ATP8Benignrs1603221586RCV000854240; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85678567M:g.8567T>C-
NC_012920.1:m.8568C>A-1MT-ATP6;MT-ATP8Uncertain significancers1603221589RCV000854241; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85688568M:g.8568C>A-
NC_012920.1:m.8572G>A-1MT-ATP6;MT-ATP8Benignrs28502681RCV000854242; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85728572M:g.8572G>A-
NC_012920.1(MT-ATP8):m.8369C>T4509MT-ATP8Uncertain significancers1603221429RCV000854161; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83698369M:g.8369C>T-
NC_012920.1(MT-ATP8):m.8373A>G4509MT-ATP8Uncertain significancers1603221431RCV000854162; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83738373M:g.8373A>G-
NC_012920.1(MT-ATP8):m.8373A>T4509MT-ATP8Uncertain significancers1603221431RCV000854163; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83738373M:g.8373A>T-
NC_012920.1(MT-ATP8):m.8379A>G4509MT-ATP8Uncertain significancers1603221434RCV000854164; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83798379M:g.8379A>G-
NC_012920.1(MT-ATP8):m.8381A>G4509MT-ATP8Benignrs1603221438RCV000854165; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83818381M:g.8381A>G-
NC_012920.1(MT-ATP8):m.8381A>T4509MT-ATP8Uncertain significancers1603221438RCV000854166; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83818381M:g.8381A>T-
NC_012920.1(MT-ATP8):m.8382C>T4509MT-ATP8Uncertain significancers1556423437RCV000514213|RCV000854167; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83828382M:g.8382C>TClinGen:CA414795864CN517202 not provided;
NC_012920.1(MT-ATP8):m.8387G>A4509MT-ATP8Benignrs1556423439RCV000854168; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83878387M:g.8387G>A-
NC_012920.1(MT-ATP8):m.8388T>C4509MT-ATP8Benignrs879199176RCV000854169; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83888388M:g.8388T>C-
m.8393C>T4509MT-ATP8Benignrs1556423442RCV000010270|RCV000854170; NMedGen:CN069322|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83938393M:g.8393C>TClinGen:CA120592,OMIM:516070.0001C3888025 Brain pseudoatrophy, reversible, valproate-induced, susceptibility to;
NC_012920.1(MT-ATP8):m.8394C>T4509MT-ATP8Uncertain significancers1603221450RCV000854171; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83948394M:g.8394C>T-
NC_012920.1(MT-ATP8):m.8396A>G4509MT-ATP8Benignrs1603221454RCV000854172; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83968396M:g.8396A>G-
NC_012920.1(MT-ATP8):m.8397C>G4509MT-ATP8Uncertain significancers1603221456RCV000854173; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83978397M:g.8397C>G-
NC_012920.1(MT-ATP8):m.8400T>C4509MT-ATP8Benignrs1603221459RCV000854174; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84008400M:g.8400T>C-
NC_012920.1(MT-ATP8):m.8403T>C4509MT-ATP8Uncertain significancers1603221460RCV000854175; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84038403M:g.8403T>C-
NC_012920.1(MT-ATP8):m.8406C>T4509MT-ATP8Benignrs1556423448RCV000854176; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84068406M:g.8406C>T-
NC_012920.1(MT-ATP8):m.8411A>C4509MT-ATP8Uncertain significancers878942289RCV000854177; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84118411M:g.8411A>C-
NC_012920.1(MT-ATP8):m.8411A>G4509MT-ATP8Uncertain significancers878942289RCV000854178; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84118411M:g.8411A>G-
NC_012920.1(MT-ATP8):m.8412T>C4509MT-ATP8Uncertain significancers1556423451RCV000854179; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84128412M:g.8412T>C-
NC_012920.1(MT-ATP8):m.8414C>T4509MT-ATP8Benignrs28358884RCV000854180; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84148414M:g.8414C>T-
NC_012920.1(MT-ATP8):m.8415T>C4509MT-ATP8Uncertain significancers1603221470RCV000854181; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84158415M:g.8415T>C-
NC_012920.1(MT-ATP8):m.8417C>T4509MT-ATP8Benignrs199616772RCV000854182; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84178417M:g.8417C>T-
NC_012920.1(MT-ATP8):m.8426T>C4509MT-ATP8Benignrs1556423461RCV000854183; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84268426M:g.8426T>C-
NC_012920.1(MT-ATP8):m.8429C>T4509MT-ATP8Benignrs1603221477RCV000854184; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84298429M:g.8429C>T-
NC_012920.1(MT-ATP8):m.8430T>C4509MT-ATP8Uncertain significancers1603221478RCV000854185; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84308430M:g.8430T>C-
NC_012920.1(MT-ATP8):m.8433T>C4509MT-ATP8Benignrs1603221480RCV000854186; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84338433M:g.8433T>C-
NC_012920.1(MT-ATP8):m.8435A>G4509MT-ATP8Benignrs1603221481RCV000854188; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84358435M:g.8435A>G-
NC_012920.1(MT-ATP8):m.8435A>T4509MT-ATP8Uncertain significancers1603221481RCV000854187; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84358435M:g.8435A>T-
NC_012920.1(MT-ATP8):m.8448T>C4509MT-ATP8Benignrs879056797RCV000854189; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84488448M:g.8448T>C-
NC_012920.1(MT-ATP8):m.8453A>G4509MT-ATP8Likely benignrs1603221486RCV000854190; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84538453M:g.8453A>G-
NC_012920.1(MT-ATP8):m.8454A>G4509MT-ATP8Benignrs1603221488RCV000854191; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84548454M:g.8454A>G-
NC_012920.1(MT-ATP8):m.8460A>G4509MT-ATP8Benignrs1116906RCV000854192; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84608460M:g.8460A>G-
NC_012920.1(MT-ATP8):m.8461C>A4509MT-ATP8Likely benignrs1603221493RCV000854193; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84618461M:g.8461C>A-
NC_012920.1(MT-ATP8):m.8462T>C4509MT-ATP8Benignrs1603221496RCV000854194; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84628462M:g.8462T>C-
NC_012920.1(MT-ATP8):m.8463A>G4509MT-ATP8Benignrs1603221498RCV000854195; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84638463M:g.8463A>G-
NC_012920.1(MT-ATP8):m.8466A>G4509MT-ATP8Uncertain significancers1603221500RCV000854196; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84668466M:g.8466A>G-
NC_012920.1(MT-ATP8):m.8469T>C4509MT-ATP8Uncertain significancers1603221503RCV000854197; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84698469M:g.8469T>C-
NC_012920.1(MT-ATP8):m.8471C>T4509MT-ATP8Likely benignrs1603221506RCV000854198; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84718471M:g.8471C>T-
NC_012920.1(MT-ATP8):m.8472C>T4509MT-ATP8Benignrs879209186RCV000854199; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84728472M:g.8472C>T-
NC_012920.1(MT-ATP8):m.8474C>T4509MT-ATP8Uncertain significancers1603221515RCV000854200; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84748474M:g.8474C>T-
NC_012920.1(MT-ATP8):m.8477T>C4509MT-ATP8Benignrs1603221517RCV000854201; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84778477M:g.8477T>C-
NC_012920.1(MT-ATP8):m.8478C>T4509MT-ATP8Benignrs201902227RCV000854202; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84788478M:g.8478C>T-
NC_012920.1(MT-ATP8):m.8480C>T4509MT-ATP8Uncertain significancers1603221520RCV000854203; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84808480M:g.8480C>T-
NC_012920.1(MT-ATP8):m.8481C>T4509MT-ATP8Uncertain significancers1603221521RCV000854204; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84818481M:g.8481C>T-
NC_012920.1(MT-ATP8):m.8489A>G4509MT-ATP8Likely benignrs1603221529RCV000854205; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84898489M:g.8489A>G-
NC_012920.1(MT-ATP8):m.8490T>C4509MT-ATP8Benignrs1603221530RCV000854206; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84908490M:g.8490T>C-
NC_012920.1(MT-ATP8):m.8496T>C4509MT-ATP8Benignrs1603221534RCV000854207; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84968496M:g.8496T>C-
NC_012920.1(MT-ATP8):m.8502A>G4509MT-ATP8Benignrs879247004RCV000854208; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85028502M:g.8502A>G-
NC_012920.1(MT-ATP8):m.8502A>T4509MT-ATP8Uncertain significancers879247004RCV000854209; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85028502M:g.8502A>T-
NC_012920.1(MT-ATP8):m.8504T>C4509MT-ATP8Benignrs1603221542RCV000854210; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85048504M:g.8504T>C-
NC_012920.1(MT-ATP8):m.8507A>G4509MT-ATP8Likely benignrs1603221546RCV000854211; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85078507M:g.8507A>G-
NC_012920.1(MT-ATP8):m.8508A>G4509MT-ATP8Benignrs1603221548RCV000854212; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85088508M:g.8508A>G-
NC_012920.1(MT-ATP8):m.8514C>T4509MT-ATP8Uncertain significancers1603221554RCV000854213; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85148514M:g.8514C>T-
NC_012920.1(MT-ATP8):m.8516T>C4509MT-ATP8Likely benignrs878928585RCV000854214; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85168516M:g.8516T>C-
NC_012920.1(MT-ATP8):m.8519G>A4509MT-ATP8Benign/Likely benignrs878853091RCV000224901|RCV000854215; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85198519M:g.8519G>AClinGen:CA10581395CN517202 not provided;
NC_012920.1(MT-ATP8):m.8520A>G4509MT-ATP8Likely benignrs1603221561RCV000854216; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85208520M:g.8520A>G-
NC_012920.1(MT-ATP8):m.8522C>T4509MT-ATP8Benignrs1603221562RCV000854217; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85228522M:g.8522C>T-
NC_012920.1:m.8527A>G-1MT-ATP8;MT-ATP6Benign/Likely benignrs878853003RCV000224525|RCV000854218; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85278527M:g.8527A>GClinGen:CA10581268CN517202 not provided;
NC_012920.1:m.8545G>A-1MT-ATP8;MT-ATP6Benignrs1603221578RCV000854227; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85458545M:g.8545G>A-
NC_012920.1:m.8553C>T-1MT-ATP8;MT-ATP6Conflicting interpretations of pathogenicityrs1569484219RCV000757478|RCV000854233; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85538553m.8553C>T-
NC_012920.1(MT-CO1):m.5907T>C4512MT-CO1Uncertain significancers1603220176RCV000853917; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M59075907M:g.5907T>C-
NC_012920.1(MT-CO1):m.5910G>A4512MT-CO1Benignrs1603220177RCV000853918; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M59105910M:g.5910G>A-
NC_012920.1(MT-CO1):m.5911C>T4512MT-CO1Benignrs879227822RCV000853919; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M59115911M:g.5911C>T-
NC_012920.1(MT-CO1):m.5913G>A4512MT-CO1Benignrs201617272RCV000853920|RCV001288242; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374M59135913M:g.5913G>A-
NC_012920.1(MT-CO1):m.5961C>A4512MT-CO1Uncertain significancers1603220201RCV000853921; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M59615961M:g.5961C>A-
NC_012920.1(MT-CO1):m.5973G>A4512MT-CO1Benignrs1556423059RCV000853922; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M59735973M:g.5973G>A-
NC_012920.1(MT-CO1):m.5979G>A4512MT-CO1Benignrs1556423060RCV000853923; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M59795979M:g.5979G>A-
NC_012920.1(MT-CO1):m.5985G>A4512MT-CO1Benignrs386828982RCV000853924; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M59855985M:g.5985G>A-
NC_012920.1(MT-CO1):m.6012A>G4512MT-CO1Uncertain significancers1603220222RCV000853925; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60126012M:g.6012A>G-
NC_012920.1(MT-CO1):m.6018G>A4512MT-CO1Benignrs1603220225RCV000853926; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60186018M:g.6018G>A-
NC_012920.1(MT-CO1):m.6037G>A4512MT-CO1Uncertain significancers1603220237RCV000853927; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60376037M:g.6037G>A-
NC_012920.1(MT-CO1):m.6040A>G4512MT-CO1Benignrs1556423072RCV000853928; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60406040M:g.6040A>G-
NC_012920.1(MT-CO1):m.6048G>A4512MT-CO1Uncertain significancers1603220242RCV000853929; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60486048M:g.6048G>A-
NC_012920.1(MT-CO1):m.6052A>G4512MT-CO1Likely benignrs1603220245RCV000853930; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60526052M:g.6052A>G-
NC_012920.1(MT-CO1):m.6060A>C4512MT-CO1Uncertain significancers1603220250RCV000853931; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60606060M:g.6060A>C-
NC_012920.1(MT-CO1):m.6060A>G4512MT-CO1Likely benignrs1603220250RCV000853932; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60606060M:g.6060A>G-
NC_012920.1(MT-CO1):m.6061T>C4512MT-CO1Uncertain significancers1603220252RCV000853933; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60616061M:g.6061T>C-
NC_012920.1(MT-CO1):m.6072A>G4512MT-CO1Uncertain significancers1556423078RCV000853934; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60726072M:g.6072A>G-
NC_012920.1(MT-CO1):m.6075G>A4512MT-CO1Uncertain significancers1603220260RCV000853935; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60756075M:g.6075G>A-
NC_012920.1(MT-CO1):m.6081G>A4512MT-CO1Likely benignrs1603220261RCV000853936; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60816081M:g.6081G>A-
NC_012920.1(MT-CO1):m.6081G>T4512MT-CO1Uncertain significancers1603220261RCV000853937; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60816081M:g.6081G>T-
NC_012920.1(MT-CO1):m.6093G>A4512MT-CO1Uncertain significancers1603220271RCV000853938; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60936093M:g.6093G>A-
NC_012920.1(MT-CO1):m.6109T>C4512MT-CO1Uncertain significancers1603220275RCV000853939; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M61096109M:g.6109T>C-
NC_012920.1(MT-CO1):m.6120A>G4512MT-CO1Uncertain significancers878853023RCV000224535|RCV000853940; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M61206120M:g.6120A>GClinGen:CA10581293CN517202 not provided;
NC_012920.1(MT-CO1):m.6121T>C4512MT-CO1Uncertain significancers1603220280RCV000853941; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M61216121M:g.6121T>C-
NC_012920.1(MT-CO1):m.6126A>G4512MT-CO1Likely benignrs1556423082RCV000853942; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M61266126M:g.6126A>G-
NC_012920.1(MT-CO1):m.6132G>A4512MT-CO1Uncertain significancers1603220289RCV000853943; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M61326132M:g.6132G>A-
NC_012920.1(MT-CO1):m.6150G>A4512MT-CO1Benignrs879053914RCV000853945; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M61506150M:g.6150G>A-
NC_012920.1(MT-CO1):m.6174G>A4512MT-CO1Uncertain significancers1603220303RCV000853946; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M61746174M:g.6174G>A-
NC_012920.1(MT-CO1):m.6228C>T4512MT-CO1Benignrs1603220332RCV000853947; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62286228M:g.6228C>T-
NC_012920.1(MT-CO1):m.6237C>A4512MT-CO1Benignrs1603220344RCV000853948; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62376237M:g.6237C>A-
NC_012920.1(MT-CO1):m.6249G>A4512MT-CO1Benignrs1556423095RCV000853949; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62496249M:g.6249G>A-
NC_012920.1(MT-CO1):m.6252A>G4512MT-CO1Likely benignrs878927119RCV000853950; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62526252M:g.6252A>G-
NC_012920.1(MT-CO1):m.6253T>C4512MT-CO1Benignrs200165736RCV000853951; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62536253M:g.6253T>C-
NC_012920.1(MT-CO1):m.6258G>A4512MT-CO1Uncertain significancers1603220372RCV000853952; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62586258M:g.6258G>A-
NC_012920.1(MT-CO1):m.6261G>A4512MT-CO1Benign/Likely benignrs201262114RCV000224375|RCV000853953; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62616261M:g.6261G>AClinGen:CA10581412CN517202 not provided;
m.6264G>A4512MT-CO1Uncertain significancers267606882RCV000010305|RCV000853954; NMONDO:MONDO:0023113,MedGen:CN280943|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62646264M:g.6264G>AClinGen:CA250584,OMIM:516030.0005CN029768 Familial colorectal cancer;
NC_012920.1(MT-CO1):m.6267G>A4512MT-CO1Benignrs202216551RCV000853955; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62676267M:g.6267G>A-
NC_012920.1(MT-CO1):m.6273A>G4512MT-CO1Uncertain significancers1603220381RCV000853956; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62736273M:g.6273A>G-
NC_012920.1(MT-CO1):m.6285G>A4512MT-CO1Benignrs878947044RCV000853957; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62856285M:g.6285G>A-
NC_012920.1(MT-CO1):m.6286T>C4512MT-CO1Uncertain significancers1603220392RCV000853958; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62866286M:g.6286T>C-
NC_012920.1(MT-CO1):m.6289A>G4512MT-CO1Uncertain significancers1603220395RCV000853959; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62896289M:g.6289A>G-
NC_012920.1(MT-CO1):m.6307A>G4512MT-CO1Uncertain significancers1603220406RCV000853960; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M63076307M:g.6307A>G-
NC_012920.1(MT-CO1):m.6324G>A4512MT-CO1Uncertain significancers1603220417RCV000853961; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M63246324M:g.6324G>A-
NC_012920.1(MT-CO1):m.6339A>G4512MT-CO1Likely benignrs1556423119RCV000853962; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M63396339M:g.6339A>G-
NC_012920.1(MT-CO1):m.6340C>T4512MT-CO1Benignrs1603220429RCV000853963; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M63406340M:g.6340C>T-
NC_012920.1(MT-CO1):m.6345T>C4512MT-CO1Benignrs1556423121RCV000853964; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M63456345M:g.6345T>C-
NC_012920.1(MT-CO1):m.6358T>C4512MT-CO1Uncertain significancers1603220439RCV000853965; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M63586358M:g.6358T>C-
NC_012920.1(MT-CO1):m.6366G>A4512MT-CO1Benignrs370673798RCV000853966; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M63666366M:g.6366G>A-
NC_012920.1(MT-CO1):m.6366G>C4512MT-CO1Benignrs370673798RCV000853967; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M63666366M:g.6366G>C-
NC_012920.1(MT-CO1):m.6367T>C4512MT-CO1Likely benignrs1603220442RCV000853968; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M63676367M:g.6367T>C-
NC_012920.1(MT-CO1):m.6393T>C4512MT-CO1Uncertain significancers879212050RCV000853969; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M63936393M:g.6393T>C-
NC_012920.1(MT-CO1):m.6420C>A4512MT-CO1Uncertain significancers1603220466RCV000853970; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M64206420M:g.6420C>A-
NC_012920.1(MT-CO1):m.6445C>T4512MT-CO1Likely benignrs879164161RCV000853971; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M64456445M:g.6445C>T-
NC_012920.1(MT-CO1):m.6456G>A4512MT-CO1Benignrs1603220483RCV000853972; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M64566456M:g.6456G>A-
NC_012920.1(MT-CO1):m.6465G>A4512MT-CO1Benignrs28414181RCV000853973; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M64656465M:g.6465G>A-
m.6480G>A4512MT-CO1Benignrs199476128RCV000010304|RCV000853974; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M64806480M:g.6480G>AClinGen:CA120611,OMIM:516030.0004C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NC_012920.1(MT-CO1):m.6481T>C4512MT-CO1Uncertain significancers28721398RCV000853975; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M64816481M:g.6481T>C-
m.6489C>A4512MT-CO1Benignrs28461189RCV000010308|RCV000853976; NMedGen:C4016602|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M64896489M:g.6489C>AClinGen:CA120614,OMIM:516030.0008C4016602 Cytochrome c oxidase i deficiency;
NC_012920.1(MT-CO1):m.6504G>A4512MT-CO1Uncertain significancers1603220512RCV000853977; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M65046504M:g.6504G>A-
NC_012920.1(MT-CO1):m.6505T>C4512MT-CO1Uncertain significancers28371932RCV000853978; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M65056505M:g.6505T>C-
NC_012920.1(MT-CO1):m.6510G>A4512MT-CO1Likely benignrs1603220518RCV000853979; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M65106510M:g.6510G>A-
NC_012920.1(MT-CO1):m.6520T>C4512MT-CO1Uncertain significancers1603220520RCV000853980; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M65206520M:g.6520T>C-
NC_012920.1(MT-CO1):m.6526T>C4512MT-CO1Likely pathogenicrs1603220522RCV000853981; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M65266526M:g.6526T>C-
NC_012920.1(MT-CO1):m.6546C>T4512MT-CO1Benignrs1603220531RCV000853982; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M65466546M:g.6546C>T-
NC_012920.1(MT-CO1):m.6550A>G4512MT-CO1Uncertain significancers1603220532RCV000853983; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M65506550M:g.6550A>G-
NC_012920.1(MT-CO1):m.6564G>A4512MT-CO1Uncertain significancers1603220535RCV000853984; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M65646564M:g.6564G>A-
NC_012920.1(MT-CO1):m.6570G>T4512MT-CO1Benignrs386828988RCV000853985; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M65706570M:g.6570G>T-
NC_012920.1(MT-CO1):m.6642A>G4512MT-CO1Uncertain significancers1603220559RCV000853986; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M66426642M:g.6642A>G-
NC_012920.1(MT-CO1):m.6663A>G4512MT-CO1Benignrs200784106RCV000853987; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M66636663M:g.6663A>G-
NC_012920.1(MT-CO1):m.6664T>C4512MT-CO1Uncertain significancers1603220567RCV000853988; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M66646664M:g.6664T>C-
NC_012920.1(MT-CO1):m.6681T>C4512MT-CO1Likely benignrs879180101RCV000853989; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M66816681M:g.6681T>C-
NC_012920.1(MT-CO1):m.6709G>A4512MT-CO1Uncertain significancers1603220583RCV000853990; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M67096709M:g.6709G>A-
NC_012920.1(MT-CO1):m.6712A>T4512MT-CO1Uncertain significancers1603220586RCV000853991; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M67126712M:g.6712A>T-
NC_012920.1(MT-CO1):m.6714A>G4512MT-CO1Uncertain significancers1603220588RCV000853992; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M67146714M:g.6714A>G-
NC_012920.1(MT-CO1):m.6723G>A4512MT-CO1Benignrs1603220595RCV000853993; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M67236723M:g.6723G>A-
NC_012920.1(MT-CO1):m.6747T>C4512MT-CO1Uncertain significancers1603220609RCV000853994; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M67476747M:g.6747T>C-
NC_012920.1(MT-CO1):m.6748T>C4512MT-CO1Uncertain significancers1556423171RCV000853995; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M67486748M:g.6748T>C-
NC_012920.1(MT-CO1):m.6756T>C4512MT-CO1Uncertain significancers1603220617RCV000853996; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M67566756M:g.6756T>C-
NC_012920.1(MT-CO1):m.6781T>C4512MT-CO1Uncertain significancers1603220626RCV000853997; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M67816781M:g.6781T>C-
NC_012920.1(MT-CO1):m.6844T>C4512MT-CO1Uncertain significancers1603220647RCV000853998; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M68446844M:g.6844T>C-
NC_012920.1(MT-CO1):m.6852G>A4512MT-CO1Benignrs1603220651RCV000853999; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M68526852M:g.6852G>A-
NC_012920.1(MT-CO1):m.6855G>A4512MT-CO1Uncertain significancers1603220653RCV000854000; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M68556855M:g.6855G>A-
NC_012920.1(MT-CO1):m.6856T>C4512MT-CO1Uncertain significancers1603220654RCV000854001; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M68566856M:g.6856T>C-
NC_012920.1(MT-CO1):m.6868G>A4512MT-CO1Uncertain significancers1603220657RCV000854002; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M68686868M:g.6868G>A-
NC_012920.1(MT-CO1):m.6876G>A4512MT-CO1Uncertain significancers1603220659RCV000854003; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M68766876M:g.6876G>A-
NC_012920.1(MT-CO1):m.6891A>G4512MT-CO1Benignrs879091068RCV000854004; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M68916891M:g.6891A>G-
NC_012920.1(MT-CO1):m.6897A>G4512MT-CO1Uncertain significancers1603220675RCV000854005; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M68976897M:g.6897A>G-
NC_012920.1(MT-CO1):m.6909G>A4512MT-CO1Uncertain significancers1603220684RCV000854006; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M69096909M:g.6909G>A-
NC_012920.1(MT-CO1):m.6912G>A4512MT-CO1Uncertain significancers1603220686RCV000854007; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M69126912M:g.6912G>A-
NC_012920.1(MT-CO1):m.6915G>A4512MT-CO1Benignrs1603220687RCV000854008; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M69156915M:g.6915G>A-
NC_012920.1(MT-CO1):m.6916T>C4512MT-CO1Uncertain significancers1603220688RCV000854009; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M69166916M:g.6916T>C-
NC_012920.1(MT-CO1):m.6924G>A4512MT-CO1Uncertain significancers1603220692RCV000854010; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M69246924M:g.6924G>A-
NC_012920.1(MT-CO1):m.6951G>A4512MT-CO1Conflicting interpretations of pathogenicityrs1603220711RCV000854011|RCV000992345; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202M69516951M:g.6951G>A-
NC_012920.1(MT-CO1):m.6972G>C4512MT-CO1Uncertain significancers1603220724RCV000854012; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M69726972M:g.6972G>C-
NC_012920.1(MT-CO1):m.6978G>A4512MT-CO1Uncertain significancers28451817RCV000854013; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M69786978M:g.6978G>A-
NC_012920.1(MT-CO1):m.6987T>G4512MT-CO1Uncertain significancers1603220727RCV000854014; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M69876987M:g.6987T>G-
NC_012920.1(MT-CO1):m.7015A>G4512MT-CO1Uncertain significancers1603220734RCV000854015; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M70157015M:g.7015A>G-
NC_012920.1(MT-CO1):m.7020G>A4512MT-CO1Uncertain significancers1603220735RCV000854016; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M70207020M:g.7020G>A-
NC_012920.1(MT-CO1):m.7032T>C4512MT-CO1Uncertain significancers1603220739RCV000854017; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M70327032M:g.7032T>C-
NC_012920.1:m.7041G>A4512MT-CO1Uncertain significancers1556423220RCV000509198|RCV000854018; NMedGen:CN552492|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M70417041M:g.7041G>AClinGen:CA414790851CN552492 Mitochondrial DNA-related disorder;
NC_012920.1(MT-CO1):m.7051T>C4512MT-CO1Likely benignrs1603220749RCV000854019; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M70517051M:g.7051T>C-
NC_012920.1(MT-CO1):m.7053G>A4512MT-CO1Uncertain significancers1603220753RCV000854020; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M70537053M:g.7053G>A-
NC_012920.1(MT-CO1):m.7077G>A4512MT-CO1Uncertain significancers1603220764RCV000854021; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M70777077M:g.7077G>A-
NC_012920.1(MT-CO1):m.7080T>C4512MT-CO1Benignrs1556423226RCV000854022; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M70807080M:g.7080T>C-
NC_012920.1(MT-CO1):m.7083A>G4512MT-CO1Likely benignrs1603220768RCV000854023; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M70837083M:g.7083A>G-
NC_012920.1(MT-CO1):m.7084T>C4512MT-CO1Uncertain significancers28445709RCV000854024; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M70847084M:g.7084T>C-
NC_012920.1(MT-CO1):m.7119G>A4512MT-CO1Benignrs1556423235RCV000854025; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71197119M:g.7119G>A-
NC_012920.1(MT-CO1):m.7125A>G4512MT-CO1Uncertain significancers1603220786RCV000854026; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71257125M:g.7125A>G-
NC_012920.1(MT-CO1):m.7129A>G4512MT-CO1Likely benignrs1603220788RCV000854027; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71297129M:g.7129A>G-
NC_012920.1(MT-CO1):m.7138T>C4512MT-CO1Uncertain significancers1603220794RCV000854028; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71387138M:g.7138T>C-
NC_012920.1(MT-CO1):m.7146A>G4512MT-CO1Benignrs372136420RCV000854029; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71467146M:g.7146A>G-
NC_012920.1(MT-CO1):m.7146_7147inv4512MT-CO1Uncertain significance-1RCV000854030; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71467147NC_012920.1:m.7146_7147inv-
NC_012920.1(MT-CO1):m.7147C>T4512MT-CO1Uncertain significancers1603220799RCV000854031; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71477147M:g.7147C>T-
NC_012920.1(MT-CO1):m.7149A>G4512MT-CO1Likely benignrs1603220802RCV000854032; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71497149M:g.7149A>G-
NC_012920.1(MT-CO1):m.7150T>C4512MT-CO1Benignrs1603220803RCV000854033; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71507150M:g.7150T>C-
NC_012920.1(MT-CO1):m.7153T>C4512MT-CO1Uncertain significancers1603220805RCV000854034; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71537153M:g.7153T>C-
NC_012920.1(MT-CO1):m.7155T>C4512MT-CO1Uncertain significancers1603220808RCV000854035; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71557155M:g.7155T>C-
NC_012920.1(MT-CO1):m.7158A>C4512MT-CO1Likely benignrs878887002RCV000854037; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71587158M:g.7158A>C-
NC_012920.1(MT-CO1):m.7158A>G4512MT-CO1Benignrs878887002RCV000854036; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71587158M:g.7158A>G-
NC_012920.1(MT-CO1):m.7159T>C4512MT-CO1Likely benignrs3929989RCV000854038; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71597159M:g.7159T>C-
NC_012920.1(MT-CO1):m.7168A>G4512MT-CO1Uncertain significancers1603220812RCV000854039; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71687168M:g.7168A>G-
NC_012920.1(MT-CO1):m.7187A>T4512MT-CO1Uncertain significancers1603220823RCV000854040; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71877187M:g.7187A>T-
NC_012920.1(MT-CO1):m.7191T>C4512MT-CO1Likely benignrs1603220824RCV000854041|RCV001824895; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202M71917191M:g.7191T>C-
NC_012920.1(MT-CO1):m.7233C>T4512MT-CO1Uncertain significancers1603220839RCV000854043; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72337233M:g.7233C>T-
NC_012920.1(MT-CO1):m.7245A>G4512MT-CO1Benignrs1556423253RCV000854044; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72457245M:g.7245A>G-
NC_012920.1(MT-CO1):m.7249C>T4512MT-CO1Uncertain significancers1603220851RCV000854045; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72497249M:g.7249C>T-
NC_012920.1(MT-CO1):m.7257A>G4512MT-CO1Benignrs1603220854RCV000854046; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72577257M:g.7257A>G-
NC_012920.1(MT-CO1):m.7258T>C4512MT-CO1Benignrs1556423260RCV000854047; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72587258M:g.7258T>C-
NC_012920.1(MT-CO1):m.7269G>A4512MT-CO1Benignrs386829004RCV000854048; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72697269M:g.7269G>A-
NC_012920.1(MT-CO1):m.7270T>C4512MT-CO1Benignrs879002867RCV000854049; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72707270M:g.7270T>C-
NC_012920.1(MT-CO1):m.7272G>A4512MT-CO1Uncertain significancers28415137RCV000854050; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72727272M:g.7272G>A-
NC_012920.1(MT-CO1):m.7278T>C4512MT-CO1Benignrs1556423264RCV000854051; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72787278M:g.7278T>C-
NC_012920.1(MT-CO1):m.7279T>C4512MT-CO1Uncertain significancers1603220861RCV000854052; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72797279M:g.7279T>C-
NC_012920.1(MT-CO1):m.7284T>G4512MT-CO1Uncertain significancers1603220868RCV000854053; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72847284M:g.7284T>G-
NC_012920.1(MT-CO1):m.7290A>G4512MT-CO1Uncertain significancers1603220870RCV000854054; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72907290M:g.7290A>G-
NC_012920.1(MT-CO1):m.7299A>G4512MT-CO1Benignrs879071265RCV000854055; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72997299M:g.7299A>G-
NC_012920.1(MT-CO1):m.7300T>C4512MT-CO1Uncertain significancers1603220877RCV000854056; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73007300M:g.7300T>C-
NC_012920.1(MT-CO1):m.7309T>C4512MT-CO1Benignrs1556423267RCV000854057; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73097309M:g.7309T>C-
NC_012920.1(MT-CO1):m.7332G>A4512MT-CO1Uncertain significancers1603220889RCV000854058; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73327332M:g.7332G>A-
NC_012920.1(MT-CO1):m.7347G>A4512MT-CO1Uncertain significancers1603220894RCV000854059; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73477347M:g.7347G>A-
NC_012920.1(MT-CO1):m.7356G>A4512MT-CO1Benignrs1556423271RCV000854060; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73567356M:g.7356G>A-
NC_012920.1(MT-CO1):m.7357T>C4512MT-CO1Uncertain significancers1603220914RCV000854061; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73577357M:g.7357T>C-
NC_012920.1(MT-CO1):m.7362G>A4512MT-CO1Uncertain significancers1603220917RCV000854062; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73627362M:g.7362G>A-
NC_012920.1(MT-CO1):m.7363A>G4512MT-CO1Likely benignrs1603220918RCV000854063; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73637363M:g.7363A>G-
NC_012920.1(MT-CO1):m.7365C>A4512MT-CO1Uncertain significancers1603220919RCV000854064; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73657365M:g.7365C>A-
NC_012920.1(MT-CO1):m.7374A>G4512MT-CO1Uncertain significancers1603220927RCV000854065; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73747374M:g.7374A>G-
NC_012920.1(MT-CO1):m.7389T>C4512MT-CO1Benignrs9783095RCV000854066; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73897389M:g.7389T>C-
NC_012920.1(MT-CO1):m.7408A>G4512MT-CO1Uncertain significancers1603220949RCV000854067; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M74087408M:g.7408A>G-
NC_012920.1(MT-CO1):m.7419G>A4512MT-CO1Benignrs1603220951RCV000854068; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M74197419M:g.7419G>A-
NC_012920.1(MT-CO1):m.7431T>C4512MT-CO1Uncertain significancers1603220957RCV000854069; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M74317431M:g.7431T>C-
NC_012920.1(MT-CO1):m.7432A>T4512MT-CO1Likely benignrs1603220958RCV000854070; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M74327432M:g.7432A>T-
NC_012920.1(MT-CO1):m.7440T>C4512MT-CO1Uncertain significancers1603220962RCV000854071; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M74407440M:g.7440T>C-
NC_012920.1(MT-CO1):m.7440T>G4512MT-CO1Uncertain significancers1603220962RCV000854072; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M74407440M:g.7440T>G-
NC_012920.1(MT-CO2):m.7598G>A4513MT-CO2Benignrs386420012RCV000854074; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M75987598M:g.7598G>A-
NC_012920.1(MT-CO2):m.7604G>A4513MT-CO2Benignrs1603221034RCV000854075; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76047604M:g.7604G>A-
NC_012920.1(MT-CO2):m.7608G>A4513MT-CO2Uncertain significancers1603221035RCV000854076; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76087608M:g.7608G>A-
NC_012920.1(MT-CO2):m.7628C>A4513MT-CO2Uncertain significancers1603221045RCV000854077; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76287628M:g.7628C>A-
NC_012920.1(MT-CO2):m.7632T>C4513MT-CO2Uncertain significancers1603221049RCV000854078; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76327632M:g.7632T>C-
NC_012920.1(MT-CO2):m.7637G>A4513MT-CO2Conflicting interpretations of pathogenicityrs1556423314RCV000506977|RCV000854079; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76377637M:g.7637G>AClinGen:CA414793083CN169374 not specified;
NC_012920.1(MT-CO2):m.7649A>G4513MT-CO2Likely benignrs1603221060RCV000854080; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76497649M:g.7649A>G-
NC_012920.1(MT-CO2):m.7650C>T4513MT-CO2Uncertain significancers1603221063RCV000854081; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76507650M:g.7650C>T-
NC_012920.1(MT-CO2):m.7664G>A4513MT-CO2Benignrs879139393RCV000854083; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76647664M:g.7664G>A-
NC_012920.1(MT-CO2):m.7664G>T4513MT-CO2Uncertain significancers879139393RCV000854082; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76647664M:g.7664G>T-
NC_012920.1(MT-CO2):m.7673A>G4513MT-CO2Benignrs1569484167RCV000854084; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76737673M:g.7673A>G-
NC_012920.1(MT-CO2):m.7674T>C4513MT-CO2Likely benignrs1569484168RCV000854085|RCV001787119; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202M76747674M:g.7674T>C-
NC_012920.1(MT-CO2):m.7679T>C4513MT-CO2Benignrs879003775RCV000854086; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76797679M:g.7679T>C-
NC_012920.1(MT-CO2):m.7686T>C4513MT-CO2Uncertain significancers1603221081RCV000854087; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76867686M:g.7686T>C-
NC_012920.1(MT-CO2):m.7691T>C4513MT-CO2Benignrs1603221084RCV000854088; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76917691M:g.7691T>C-
NC_012920.1(MT-CO2):m.7697G>A4513MT-CO2Benignrs879212765RCV000854089; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76977697M:g.7697G>A-
NC_012920.1(MT-CO2):m.7698T>C4513MT-CO2Uncertain significancers1603221090RCV000854090; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76987698M:g.7698T>C-
NC_012920.1(MT-CO2):m.7706G>A4513MT-CO2Uncertain significancers1556423333RCV000854091; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77067706M:g.7706G>A-
NC_012920.1(MT-CO2):m.7713T>C4513MT-CO2Uncertain significancers1603221099RCV000854092; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77137713M:g.7713T>C-
NC_012920.1(MT-CO2):m.7718A>G4513MT-CO2Uncertain significancers1556423337RCV000854093; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77187718M:g.7718A>G-
NC_012920.1(MT-CO2):m.7724A>T4513MT-CO2Conflicting interpretations of pathogenicityrs1553139599RCV000854094|RCV000992350; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202M77247724M:g.7724A>T-
NC_012920.1(MT-CO2):m.7746A>G4513MT-CO2Conflicting interpretations of pathogenicityrs1603221113RCV000854095|RCV000992351; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202M77467746M:g.7746A>G-
NC_012920.1(MT-CO2):m.7751T>G4513MT-CO2Uncertain significancers1603221115RCV000854096; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77517751M:g.7751T>G-
NC_012920.1(MT-CO2):m.7754G>A4513MT-CO2Benignrs1556423339RCV000854097; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77547754M:g.7754G>A-
NC_012920.1(MT-CO2):m.7757G>A4513MT-CO2Benignrs1603221120RCV000854098; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77577757M:g.7757G>A-
NC_012920.1(MT-CO2):m.7761A>G4513MT-CO2Likely benignrs1603221122RCV000854099; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77617761M:g.7761A>G-
NC_012920.1(MT-CO2):m.7772A>G4513MT-CO2Likely benignrs1603221127RCV000854100; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77727772M:g.7772A>G-
NC_012920.1(MT-CO2):m.7775G>A4513MT-CO2Benignrs1556423347RCV000854101; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77757775M:g.7775G>A-
NC_012920.1(MT-CO2):m.7784A>G4513MT-CO2Likely benignrs1556423348RCV000854102; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77847784M:g.7784A>G-
NC_012920.1(MT-CO2):m.7785T>C4513MT-CO2Likely benignrs1603221138RCV000854103; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77857785M:g.7785T>C-
NC_012920.1(MT-CO2):m.7796A>G4513MT-CO2Likely benignrs1603221141RCV000854104; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77967796M:g.7796A>G-
NC_012920.1(MT-CO2):m.7797T>C4513MT-CO2Likely benignrs1603221143RCV000854105; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77977797M:g.7797T>C-
NC_012920.1(MT-CO2):m.7805G>A4513MT-CO2Benignrs879119797RCV000854106; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78057805M:g.7805G>A-
NC_012920.1(MT-CO2):m.7806T>C4513MT-CO2Uncertain significancers1603221147RCV000854107; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78067806M:g.7806T>C-
NC_012920.1(MT-CO2):m.7808C>T4513MT-CO2Likely benignrs1603221148RCV000854108; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78087808M:g.7808C>T-
NC_012920.1(MT-CO2):m.7811A>G4513MT-CO2Uncertain significancers1603221152RCV000854109; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78117811M:g.7811A>G-
NC_012920.1(MT-CO2):m.7814G>A4513MT-CO2Uncertain significancers1603221156RCV000854110; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78147814M:g.7814G>A-
NC_012920.1(MT-CO2):m.7830G>A4513MT-CO2Benignrs878897170RCV000854111; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78307830M:g.7830G>A-
NC_012920.1(MT-CO2):m.7833T>C4513MT-CO2Uncertain significancers1603221169RCV000854112; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78337833M:g.7833T>C-
NC_012920.1(MT-CO2):m.7844A>G4513MT-CO2Benignrs1556423353RCV000854114; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78447844M:g.7844A>G-
NC_012920.1(MT-CO2):m.7844A>T4513MT-CO2Uncertain significancers1556423353RCV000854113; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78447844M:g.7844A>T-
NC_012920.1(MT-CO2):m.7853G>A4513MT-CO2Benignrs386420037RCV000854115; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78537853M:g.7853G>A-
NC_012920.1(MT-CO2):m.7854T>C4513MT-CO2Benignrs1603221180RCV000854116; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78547854M:g.7854T>C-
NC_012920.1(MT-CO2):m.7859G>A4513MT-CO2Benignrs373105186RCV000854117; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78597859M:g.7859G>A-
NC_012920.1(MT-CO2):m.7868C>T4513MT-CO2Uncertain significancers1556423357RCV000854118; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78687868M:g.7868C>T-
NC_012920.1(MT-CO2):m.7874A>G4513MT-CO2Uncertain significancers1603221191RCV000854119; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78747874M:g.7874A>G-
NC_012920.1(MT-CO2):m.7898T>C4513MT-CO2Uncertain significancers1603221199RCV000854120; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78987898M:g.7898T>C-
NC_012920.1(MT-CO2):m.7904A>G4513MT-CO2Uncertain significancers1603221201RCV000854121; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79047904M:g.7904A>G-
NC_012920.1(MT-CO2):m.7919G>A4513MT-CO2Uncertain significancers1603221212RCV000854122; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79197919M:g.7919G>A-
NC_012920.1(MT-CO2):m.7922T>C4513MT-CO2Uncertain significancers1556423362RCV000854123; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79227922M:g.7922T>C-
NC_012920.1(MT-CO2):m.7925G>A4513MT-CO2Uncertain significancers1603221215RCV000854124|RCV001089496; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0008347,MedGen:C4020800M79257925M:g.7925G>A-
NC_012920.1(MT-CO2):m.7926G>A4513MT-CO2Uncertain significancers1603221217RCV000854125; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79267926M:g.7926G>A-
NC_012920.1(MT-CO2):m.7934A>G4513MT-CO2Benignrs374261450RCV000854126; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79347934M:g.7934A>G-
NC_012920.1(MT-CO2):m.7941A>G4513MT-CO2Likely benignrs1603221223RCV000854127; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79417941M:g.7941A>G-
NC_012920.1(MT-CO2):m.7943T>C4513MT-CO2Uncertain significancers1603221224RCV000854128; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79437943M:g.7943T>C-
NC_012920.1(MT-CO2):m.7962T>C4513MT-CO2Uncertain significancers1603221233RCV000854129; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79627962M:g.7962T>C-
NC_012920.1(MT-CO2):m.7964T>C4513MT-CO2Benignrs1556423367RCV000854130; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79647964M:g.7964T>C-
NC_012920.1(MT-CO2):m.7976G>A4513MT-CO2Uncertain significancers377368526RCV000854131; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79767976M:g.7976G>A-
NC_012920.1(MT-CO2):m.7980A>G4513MT-CO2Uncertain significancers1603221241RCV000854132; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79807980M:g.7980A>G-
NC_012920.1(MT-CO2):m.8001A>G4513MT-CO2Uncertain significancers1603221247RCV000854133; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80018001M:g.8001A>G-
NC_012920.1(MT-CO2):m.8010T>C4513MT-CO2Uncertain significancers1603221254RCV000854134; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80108010M:g.8010T>C-
NC_012920.1(MT-CO2):m.8012G>A4513MT-CO2Uncertain significancers1603221258RCV000854135; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80128012M:g.8012G>A-
NC_012920.1(MT-CO2):m.8021A>G4513MT-CO2Likely benignrs1603221261RCV000854136; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80218021M:g.8021A>G-
NC_012920.1(MT-CO2):m.8022T>C4513MT-CO2Benignrs1556423376RCV000854137; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80228022M:g.8022T>C-
NC_012920.1(MT-CO2):m.8026A>T4513MT-CO2Benignrs1603221263RCV000854138; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80268026M:g.8026A>T-
NC_012920.1(MT-CO2):m.8027G>A4513MT-CO2Benignrs1116904RCV000854139; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80278027M:g.8027G>A-
NC_012920.1(MT-CO2):m.8030C>T4513MT-CO2Uncertain significancers1603221266RCV000854140; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80308030M:g.8030C>T-
NC_012920.1(MT-CO2):m.8033A>G4513MT-CO2Uncertain significancers1603221267RCV000854141; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80338033M:g.8033A>G-
NC_012920.1(MT-CO2):m.8060G>A4513MT-CO2Uncertain significancers1603221271RCV000854142; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80608060M:g.8060G>A-
NC_012920.1(MT-CO2):m.8069T>C4513MT-CO2Uncertain significancers1603221275RCV000854143; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80698069M:g.8069T>C-
NC_012920.1(MT-CO2):m.8075G>A4513MT-CO2Likely benignrs386829024RCV000854144; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80758075M:g.8075G>A-
NC_012920.1(MT-CO2):m.8078G>A4513MT-CO2Likely benignrs878993263RCV000854145; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80788078M:g.8078G>A-
NC_012920.1(MT-CO2):m.8079T>C4513MT-CO2Uncertain significancers1603221279RCV000854146; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80798079M:g.8079T>C-
NC_012920.1:m.8084A>G4513MT-CO2Likely benignrs1057518824RCV000414851|RCV000854147; NHuman Phenotype Ontology:HP:0002140,MedGen:C0948008,OMIM:601367; Human Phenotype Ontology:HP:0007042,MedGen:C4024946|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80848084M:g.8084A>GClinGen:CA16043604C4024946 Focal white matter lesions;
NC_012920.1(MT-CO2):m.8084A>T4513MT-CO2Likely benignrs1057518824RCV000854148; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80848084M:g.8084A>T-
NC_012920.1(MT-CO2):m.8108A>G4513MT-CO2Benignrs1603221288RCV000854149; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M81088108M:g.8108A>G-
NC_012920.1(MT-CO2):m.8135T>C4513MT-CO2Uncertain significancers1603221304RCV000854150; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M81358135M:g.8135T>C-
NC_012920.1(MT-CO2):m.8141G>A4513MT-CO2Uncertain significancers1603221309RCV000854151; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M81418141M:g.8141G>A-
NC_012920.1(MT-CO2):m.8187G>A4513MT-CO2Uncertain significancers1603221319RCV000854152; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M81878187M:g.8187G>A-
NC_012920.1(MT-CO2):m.8210A>G4513MT-CO2Uncertain significancers1603221330RCV000854153; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M82108210M:g.8210A>G-
NC_012920.1(MT-CO2):m.8225A>G4513MT-CO2Uncertain significancers1603221335RCV000854154; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M82258225M:g.8225A>G-
NC_012920.1(MT-CO2):m.8237A>G4513MT-CO2Benignrs1603221342RCV000854155; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M82378237M:g.8237A>G-
NC_012920.1(MT-CO2):m.8238T>C4513MT-CO2Uncertain significancers1603221344RCV000854156; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M82388238M:g.8238T>C-
NC_012920.1(MT-CO2):m.8252C>T4513MT-CO2Uncertain significancers1603221351RCV000854157; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M82528252M:g.8252C>T-
NC_012920.1(MT-CO2):m.8256T>C4513MT-CO2Likely benignrs1603221354RCV000854158; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M82568256M:g.8256T>C-
NC_012920.1(MT-CO2):m.8258T>C4513MT-CO2Likely benignrs1603221357RCV000854159; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M82588258M:g.8258T>C-
NC_012920.1(MT-CO2):m.8265T>C4513MT-CO2Uncertain significancers1603221364RCV000854160; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M82658265M:g.8265T>C-
NC_012920.1(MT-CO3):m.9210A>G4514MT-CO3Benignrs1556423633RCV000854476; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92109210M:g.9210A>G-
NC_012920.1(MT-CO3):m.9211C>T4514MT-CO3Benignrs1603222177RCV000854477; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92119211M:g.9211C>T-
NC_012920.1(MT-CO3):m.9214A>G4514MT-CO3Likely benignrs1556423637RCV000854478; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92149214M:g.9214A>G-
NC_012920.1(MT-CO3):m.9217A>G4514MT-CO3Uncertain significancers1603222182RCV000854479; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92179217M:g.9217A>G-
NC_012920.1(MT-CO3):m.9219T>G4514MT-CO3Uncertain significancers1603222184RCV000854480; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92199219M:g.9219T>G-
NC_012920.1(MT-CO3):m.9234A>G4514MT-CO3Likely benignrs1603222190RCV000854481; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92349234M:g.9234A>G-
NC_012920.1(MT-CO3):m.9247G>A4514MT-CO3Uncertain significancers1553140066RCV000854482; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92479247M:g.9247G>A-
NC_012920.1(MT-CO3):m.9261A>G4514MT-CO3Uncertain significancers1603222202RCV000854483; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92619261M:g.9261A>G-
NC_012920.1(MT-CO3):m.9265G>A4514MT-CO3Uncertain significancers1556423649RCV000854484; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92659265M:g.9265G>A-
NC_012920.1(MT-CO3):m.9267G>A4514MT-CO3Uncertain significancers1556423650RCV000854485; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92679267M:g.9267G>A-
NC_012920.1(MT-CO3):m.9270C>T4514MT-CO3Likely benignrs1603222205RCV000854486; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92709270M:g.9270C>T-
NC_012920.1(MT-CO3):m.9276G>A4514MT-CO3Likely benignrs1603222209RCV000854487; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92769276M:g.9276G>A-
NC_012920.1(MT-CO3):m.9285A>G4514MT-CO3Likely benignrs1603222213RCV000854488; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92859285M:g.9285A>G-
NC_012920.1(MT-CO3):m.9286T>C4514MT-CO3Likely benignrs1603222214RCV000854489; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92869286M:g.9286T>C-
NC_012920.1(MT-CO3):m.9288A>G4514MT-CO3Benignrs1603222218RCV000854490; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92889288M:g.9288A>G-
NC_012920.1(MT-CO3):m.9294G>A4514MT-CO3Uncertain significancers1603222222RCV000854491; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92949294M:g.9294G>A-
NC_012920.1(MT-CO3):m.9300G>A4514MT-CO3Benignrs371745772RCV000854492; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93009300M:g.9300G>A-
NC_012920.1(MT-CO3):m.9301C>T4514MT-CO3Likely benignrs1603222227RCV000854493; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93019301M:g.9301C>T-
NC_012920.1(MT-CO3):m.9304T>C4514MT-CO3Uncertain significancers1603222232RCV000854494; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93049304M:g.9304T>C-
NC_012920.1(MT-CO3):m.9309T>C4514MT-CO3Uncertain significancers1603222236RCV000854495; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93099309M:g.9309T>C-
NC_012920.1(MT-CO3):m.9316T>C4514MT-CO3Benignrs1603222240RCV000854496; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93169316M:g.9316T>C-
NC_012920.1(MT-CO3):m.9319A>G4514MT-CO3Uncertain significancers1603222243RCV000854497; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93199319M:g.9319A>G-
NC_012920.1(MT-CO3):m.9324A>G4514MT-CO3Benignrs1603222245RCV000854498; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93249324M:g.9324A>G-
NC_012920.1(MT-CO3):m.9325T>C4514MT-CO3Benignrs879000531RCV000854499; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93259325M:g.9325T>C-
NC_012920.1(MT-CO3):m.9327A>C4514MT-CO3Uncertain significancers1603222247RCV000854500; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93279327M:g.9327A>C-
NC_012920.1(MT-CO3):m.9327A>G4514MT-CO3Likely benignrs1603222247RCV000854501; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93279327M:g.9327A>G-
NC_012920.1(MT-CO3):m.9331T>C4514MT-CO3Uncertain significancers1603222252RCV000854502; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93319331M:g.9331T>C-
NC_012920.1(MT-CO3):m.9336A>G4514MT-CO3Benignrs28474779RCV000854503; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93369336M:g.9336A>G-
NC_012920.1(MT-CO3):m.9337T>C4514MT-CO3Benignrs1603222256RCV000854504; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93379337M:g.9337T>C-
NC_012920.1(MT-CO3):m.9342G>A4514MT-CO3Uncertain significancers28672157RCV000854505; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93429342M:g.9342G>A-
NC_012920.1(MT-CO3):m.9355A>G4514MT-CO3Benignrs1556423663RCV000854506; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93559355M:g.9355A>G-
NC_012920.1(MT-CO3):m.9357A>G4514MT-CO3Uncertain significancers1603222269RCV000854507; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93579357M:g.9357A>G-
NC_012920.1(MT-CO3):m.9367T>C4514MT-CO3Uncertain significancers1603222274RCV000854508; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93679367M:g.9367T>C-
NC_012920.1(MT-CO3):m.9387G>A4514MT-CO3Uncertain significancers1603222285RCV000854510; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93879387M:g.9387G>A-
NC_012920.1(MT-CO3):m.9390A>G4514MT-CO3Uncertain significancers1603222288RCV000854511; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93909390M:g.9390A>G-
NC_012920.1(MT-CO3):m.9391C>T4514MT-CO3Benignrs1556423673RCV000854512; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93919391M:g.9391C>T-
NC_012920.1(MT-CO3):m.9405T>C4514MT-CO3Uncertain significancers1603222294RCV000854513; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94059405M:g.9405T>C-
m.9438G>A4514MT-CO3Benignrs267606611RCV000010286|RCV000854514; NHuman 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:506M94389438M:g.9438G>AClinGen:CA254850,OMIM:516050.0001C0917796 535000 Leber's optic atrophy;
NC_012920.1(MT-CO3):m.9439G>A4514MT-CO3Uncertain significancers1603222309RCV000854515; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94399439M:g.9439G>A-
NC_012920.1(MT-CO3):m.9445G>A4514MT-CO3Uncertain significancers1603222311RCV000854516; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94459445M:g.9445G>A-
NC_012920.1(MT-CO3):m.9448A>G4514MT-CO3Benignrs1603222312RCV000854517; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94489448M:g.9448A>G-
NC_012920.1(MT-CO3):m.9456A>C4514MT-CO3Uncertain significancers1603222315RCV000854519; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94569456M:g.9456A>C-
NC_012920.1(MT-CO3):m.9456A>G4514MT-CO3Likely benignrs1603222315RCV000854518; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94569456M:g.9456A>G-
NC_012920.1(MT-CO3):m.9468A>G4514MT-CO3Benignrs879015841RCV000854520; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94689468M:g.9468A>G-
NC_012920.1(MT-CO3):m.9469C>T4514MT-CO3Benignrs1603222325RCV000854521; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94699469M:g.9469C>T-
NC_012920.1(MT-CO3):m.9477G>A4514MT-CO3Benignrs2853825RCV000854522; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94779477M:g.9477G>A-
NC_012920.1(MT-CO3):m.9477G>C4514MT-CO3Uncertain significancers2853825RCV000854523; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94779477M:g.9477G>C-
NC_012920.1:m.9478T>C4514MT-CO3Uncertain significancers587776437RCV000144007|RCV002247533; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374M94789478M:g.9478T>CClinGen:CA345915C0023264 256000 Leigh syndrome;
NC_012920.1(MT-CO3):m.9478T>G4514MT-CO3Uncertain significancers587776437RCV000854524; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94789478M:g.9478T>G-
NC_012920.1(MT-CO3):m.9480T>C4514MT-CO3Uncertain significancers1603222335RCV000854525; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94809480M:g.9480T>C-
NC_012920.1(MT-CO3):m.9481T>C4514MT-CO3Uncertain significancers1603222339RCV000854526; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94819481M:g.9481T>C-
NC_012920.1(MT-CO3):m.9484T>C4514MT-CO3Uncertain significancers1603222342RCV000854527; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94849484M:g.9484T>C-
NC_012920.1(MT-CO3):m.9489G>A4514MT-CO3Likely benignrs1603222343RCV000854528; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94899489M:g.9489G>A-
NC_012920.1(MT-CO3):m.9490C>T4514MT-CO3Likely benignrs1603222345RCV000854529; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94909490M:g.9490C>T-
NC_012920.1(MT-CO3):m.9495T>C4514MT-CO3Benignrs1556423681RCV000854530; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94959495M:g.9495T>C-
NC_012920.1(MT-CO3):m.9508T>A4514MT-CO3Uncertain significancers1603222350RCV000854531; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95089508M:g.9508T>A-
NC_012920.1(MT-CO3):m.9525G>A4514MT-CO3Likely benignrs878977410RCV000854532; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95259525M:g.9525G>A-
m.9537dupC4514MT-CO3Pathogenicrs267606614RCV000010292|RCV000144008; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95319532M:g.9531_9532insCClinGen:CA120602,OMIM:516050.0005C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NC_012920.1(MT-CO3):m.9531A>G4514MT-CO3Benignrs386829082RCV000854533; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95319531M:g.9531A>G-
NC_012920.1(MT-CO3):m.9549C>T4514MT-CO3Uncertain significancers1603222370RCV000854534|RCV001196724; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|M95499549M:g.9549C>T-
NC_012920.1(MT-CO3):m.9564G>A4514MT-CO3Uncertain significancers1603222373RCV000854535; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95649564M:g.9564G>A-
NC_012920.1(MT-CO3):m.9571C>T4514MT-CO3Likely benignrs1603222374RCV000854536; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95719571M:g.9571C>T-
NC_012920.1(MT-CO3):m.9577T>C4514MT-CO3Uncertain significancers386829086RCV000854537; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95779577M:g.9577T>C-
NC_012920.1(MT-CO3):m.9580A>C4514MT-CO3Uncertain significancers1603222379RCV000854538; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95809580M:g.9580A>C-
NC_012920.1(MT-CO3):m.9582C>T4514MT-CO3Uncertain significancers1603222382RCV000854539; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95829582M:g.9582C>T-
NC_012920.1(MT-CO3):m.9588G>A4514MT-CO3Uncertain significancers1603222385RCV000854540; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95889588M:g.9588G>A-
NC_012920.1(MT-CO3):m.9591G>A4514MT-CO3Benignrs878949273RCV000854541; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95919591M:g.9591G>A-
NC_012920.1(MT-CO3):m.9592T>C4514MT-CO3Likely benignrs1603222390RCV000854542; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95929592M:g.9592T>C-
NC_012920.1(MT-CO3):m.9604A>G4514MT-CO3Benignrs1556423697RCV000854543; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96049604M:g.9604A>G-
NC_012920.1(MT-CO3):m.9612G>A4514MT-CO3Benignrs1603222398RCV000854544; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96129612M:g.9612G>A-
NC_012920.1(MT-CO3):m.9621G>A4514MT-CO3Benignrs1603222400RCV000854545; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96219621M:g.9621G>A-
NC_012920.1(MT-CO3):m.9630G>A4514MT-CO3Likely benignrs1603222403RCV000854546; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96309630M:g.9630G>A-
NC_012920.1(MT-CO3):m.9631T>C4514MT-CO3Uncertain significancers1603222406RCV000854547; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96319631M:g.9631T>C-
NC_012920.1(MT-CO3):m.9633T>C4514MT-CO3Likely benignrs1603222407RCV000854548; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96339633M:g.9633T>C-
NC_012920.1(MT-CO3):m.9636A>G4514MT-CO3Uncertain significancers1603222411RCV000854549; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96369636M:g.9636A>G-
NC_012920.1(MT-CO3):m.9637T>C4514MT-CO3Uncertain significancers1603222412RCV000854550; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96379637M:g.9637T>C-
NC_012920.1(MT-CO3):m.9652A>G4514MT-CO3Uncertain significancers1603222415RCV000854551; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96529652M:g.9652A>G-
NC_012920.1(MT-CO3):m.9654A>G4514MT-CO3Uncertain significancers1603222419RCV000854552; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96549654M:g.9654A>G-
NC_012920.1(MT-CO3):m.9660A>G4514MT-CO3Likely benignrs1603222423RCV000854553; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96609660M:g.9660A>G-
NC_012920.1(MT-CO3):m.9663G>A4514MT-CO3Likely benignrs1603222427RCV000854554; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96639663M:g.9663G>A-
NC_012920.1(MT-CO3):m.9664A>G4514MT-CO3Benignrs1603222429RCV000854555; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96649664M:g.9664A>G-
NC_012920.1(MT-CO3):m.9667A>G4514MT-CO3Benignrs41482146RCV000854556; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96679667M:g.9667A>G-
NC_012920.1(MT-CO3):m.9670A>G4514MT-CO3Benignrs1556423709RCV000854557; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96709670M:g.9670A>G-
NC_012920.1(MT-CO3):m.9682T>C4514MT-CO3Benignrs199750417RCV000854558; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96829682M:g.9682T>C-
NC_012920.1(MT-CO3):m.9685T>C4514MT-CO3Uncertain significancers1556423710RCV000854559; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96859685M:g.9685T>C-
NC_012920.1(MT-CO3):m.9699A>G4514MT-CO3Uncertain significancers1603222436RCV000854560; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96999699M:g.9699A>G-
NC_012920.1(MT-CO3):m.9700T>C4514MT-CO3Uncertain significancers1603222437RCV000854561|RCV002290481; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905M97009700M:g.9700T>C-
NC_012920.1(MT-CO3):m.9705A>G4514MT-CO3Uncertain significancers1603222440RCV000854562; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97059705M:g.9705A>G-
NC_012920.1(MT-CO3):m.9706T>C4514MT-CO3Uncertain significancers1603222441RCV000854563; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97069706M:g.9706T>C-
NC_012920.1(MT-CO3):m.9717C>T4514MT-CO3Likely benignrs1603222453RCV000854564; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97179717M:g.9717C>T-
NC_012920.1(MT-CO3):m.9727C>T4514MT-CO3Likely benignrs1603222461RCV000854565; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97279727M:g.9727C>T-
NC_012920.1(MT-CO3):m.9738G>A4514MT-CO3Benignrs1556423714RCV000854566; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97389738M:g.9738G>A-
NC_012920.1(MT-CO3):m.9739C>T4514MT-CO3Likely benignrs879159866RCV000854567; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97399739M:g.9739C>T-
NC_012920.1(MT-CO3):m.9751T>C4514MT-CO3Likely benignrs1603222471RCV000854568; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97519751M:g.9751T>C-
NC_012920.1(MT-CO3):m.9751T>G4514MT-CO3Uncertain significancers1603222471RCV000854569; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97519751M:g.9751T>G-
NC_012920.1(MT-CO3):m.9752C>A4514MT-CO3Uncertain significancers1569484321RCV000854570; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97529752M:g.9752C>A-
NC_012920.1(MT-CO3):m.9753G>A4514MT-CO3Uncertain significancers1569484322RCV000854571; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97539753M:g.9753G>A-
NC_012920.1(MT-CO3):m.9753G>C4514MT-CO3Uncertain significancers1569484322RCV000854572; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97539753M:g.9753G>C-
NC_012920.1(MT-CO3):m.9754A>G4514MT-CO3Likely benignrs1603222476RCV000854573; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97549754M:g.9754A>G-
NC_012920.1(MT-CO3):m.9756T>G4514MT-CO3Benignrs1603222480RCV000854574; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97569756M:g.9756T>G-
NC_012920.1(MT-CO3):m.9759C>T4514MT-CO3Likely benignrs1603222483RCV000854575; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97599759M:g.9759C>T-
NC_012920.1(MT-CO3):m.9765A>G4514MT-CO3Uncertain significancers1603222489RCV000854576; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97659765M:g.9765A>G-
NC_012920.1(MT-CO3):m.9769T>C4514MT-CO3Uncertain significancers1603222494RCV000854577; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97699769M:g.9769T>C-
NC_012920.1(MT-CO3):m.9777G>A4514MT-CO3Benignrs1556423722RCV000854578; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97779777M:g.9777G>A-
NC_012920.1(MT-CO3):m.9786G>A4514MT-CO3Uncertain significancers1603222499RCV000854579; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97869786M:g.9786G>A-
NC_012920.1(MT-CO3):m.9801G>A4514MT-CO3Benignrs1556423726RCV000854580; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98019801M:g.9801G>A-
NC_012920.1(MT-CO3):m.9802T>C4514MT-CO3Uncertain significancers1603222502RCV000854581; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98029802M:g.9802T>C-
m.9804G>A4514MT-CO3Conflicting interpretations of pathogenicityrs200613617RCV000010287|RCV000756352|RCV000854582|RCV001196020; NHuman 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|M98049804M:g.9804G>AClinGen:CA340930,OMIM:516050.0002C0917796 535000 Leber's optic atrophy;
NC_012920.1(MT-CO3):m.9804G>C4514MT-CO3Uncertain significancers200613617RCV000854583; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98049804M:g.9804G>C-
NC_012920.1(MT-CO3):m.9804G>T4514MT-CO3Uncertain significancers200613617RCV000854584; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98049804M:g.9804G>T-
NC_012920.1(MT-CO3):m.9813T>C4514MT-CO3Uncertain significancers1556423727RCV000854585; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98139813M:g.9813T>C-
NC_012920.1(MT-CO3):m.9819G>A4514MT-CO3Uncertain significancers1603222512RCV000854586; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98199819M:g.9819G>A-
NC_012920.1(MT-CO3):m.9820G>A4514MT-CO3Uncertain significancers1603222513RCV000854587; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98209820M:g.9820G>A-
NC_012920.1(MT-CO3):m.9822C>T4514MT-CO3Uncertain significancers1556423729RCV000854588; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98229822M:g.9822C>T-
NC_012920.1(MT-CO3):m.9828G>A4514MT-CO3Uncertain significancers1603222521RCV000854589; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98289828M:g.9828G>A-
NC_012920.1(MT-CO3):m.9837G>A4514MT-CO3Uncertain significancers1603222528RCV000854590; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98379837M:g.9837G>A-
NC_012920.1(MT-CO3):m.9838G>A4514MT-CO3Uncertain significancers1603222533RCV000854591; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98389838M:g.9838G>A-
NC_012920.1(MT-CO3):m.9843A>G4514MT-CO3Likely benignrs1603222537RCV000854592; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98439843M:g.9843A>G-
NC_012920.1(MT-CO3):m.9844C>T4514MT-CO3Uncertain significancers1603222540RCV000854593; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98449844M:g.9844C>T-
NC_012920.1(MT-CO3):m.9852A>G4514MT-CO3Benignrs1603222544RCV000854594; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98529852M:g.9852A>G-
NC_012920.1(MT-CO3):m.9855A>G4514MT-CO3Benignrs201552272RCV000854595; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98559855M:g.9855A>G-
NC_012920.1(MT-CO3):m.9856T>C4514MT-CO3Likely benignrs1603222553RCV000854596; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98569856M:g.9856T>C-
NC_012920.1(MT-CO3):m.9861T>C4514MT-CO3Benign/Likely benignrs878853060RCV000224068|RCV000854597; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98619861M:g.9861T>CClinGen:CA10581347CN517202 not provided;
NC_012920.1(MT-CO3):m.9862T>A4514MT-CO3Likely benignrs1603222555RCV000854598; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98629862M:g.9862T>A-
NC_012920.1(MT-CO3):m.9868G>A4514MT-CO3Uncertain significancers1603222560RCV000854599; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98689868M:g.9868G>A-
NC_012920.1(MT-CO3):m.9903T>C4514MT-CO3Benignrs199999390RCV000854600; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99039903M:g.9903T>C-
NC_012920.1(MT-CO3):m.9909T>C4514MT-CO3Benignrs28690056RCV000854601; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99099909M:g.9909T>C-
NC_012920.1(MT-CO3):m.9911C>A4514MT-CO3Uncertain significancers28615236RCV000854602; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99119911M:g.9911C>A-
NC_012920.1(MT-CO3):m.9921G>A4514MT-CO3Benignrs1556423740RCV000854603; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99219921M:g.9921G>A-
NC_012920.1(MT-CO3):m.9922C>T4514MT-CO3Likely benignrs1603222583RCV000854604; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99229922M:g.9922C>T-
NC_012920.1(MT-CO3):m.9939G>A4514MT-CO3Uncertain significancers1603222586RCV000854605; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99399939M:g.9939G>A-
NC_012920.1(MT-CO3):m.9948G>A4514MT-CO3Benignrs1556423747RCV000854606; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99489948M:g.9948G>A-
NC_012920.1(MT-CO3):m.9957T>C4514MT-CO3Benignrs1556423753RCV000854607; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99579957M:g.9957T>C-
NC_012920.1(MT-CO3):m.9966G>A4514MT-CO3Benign/Likely benignrs200809063RCV000424414|RCV000854608; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99669966M:g.9966G>AClinGen:CA16603234CN517202 not provided;
NC_012920.1(MT-CO3):m.9966G>C4514MT-CO3Uncertain significancers200809063RCV000854609; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99669966M:g.9966G>C-
NC_012920.1(MT-CO3):m.9967T>C4514MT-CO3Uncertain significancers1603222598RCV000854610; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99679967M:g.9967T>C-
NC_012920.1(MT-CO3):m.9972A>G4514MT-CO3Likely benignrs1603222600RCV000854611; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99729972M:g.9972A>G-
NC_012920.1(MT-CO3):m.9981T>G4514MT-CO3Uncertain significancers1603222606RCV000854612; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99819981M:g.9981T>G-
NC_012920.1(MT-CO3):m.9984G>A4514MT-CO3Uncertain significancers1603222608RCV000854613; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99849984M:g.9984G>A-
NC_012920.1(MT-CO3):m.9987T>C4514MT-CO3Uncertain significancers1603222609RCV000854614; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99879987M:g.9987T>C-
NC_012920.1(MT-CYB):m.14748T>C4519MT-CYBUncertain significancers1603224852RCV000855143; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1474814748M:g.14748T>C-
NC_012920.1(MT-CYB):m.14750A>G4519MT-CYBBenignrs1603224853RCV000855144; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1475014750M:g.14750A>G-
NC_012920.1(MT-CYB):m.14750A>T4519MT-CYBLikely benignrs1603224853RCV000855145; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1475014750M:g.14750A>T-
NC_012920.1(MT-CYB):m.14751C>T4519MT-CYBBenignrs1603224855RCV000855146; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1475114751M:g.14751C>T-
NC_012920.1(MT-CYB):m.14757T>C4519MT-CYBBenignrs1603224859RCV000855147; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1475714757M:g.14757T>C-
NC_012920.1(MT-CYB):m.14760G>A4519MT-CYBUncertain significancers1603224860RCV000855148; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1476014760M:g.14760G>A-
NC_012920.1(MT-CYB):m.14765A>T4519MT-CYBUncertain significancers1603224865RCV000855149; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1476514765M:g.14765A>T-
m.14766C>T4519MT-CYBBenignrs193302980RCV000128802|RCV000855150; NMONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1476614766M:g.14766C>TClinGen:CA345703C0346153 114480 Familial cancer of breast;
NC_012920.1(MT-CYB):m.14768A>G4519MT-CYBUncertain significancers1603224870RCV000855151; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1476814768M:g.14768A>G-
NC_012920.1(MT-CYB):m.14769A>G4519MT-CYBBenignrs28357679RCV000855152; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1476914769M:g.14769A>G-
NC_012920.1(MT-CYB):m.14778T>C4519MT-CYBUncertain significancers1603224879RCV000855153; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1477814778M:g.14778T>C-
NC_012920.1(MT-CYB):m.14786A>G4519MT-CYBUncertain significancers1603224884RCV000855154; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1478614786M:g.14786A>G-
NC_012920.1(MT-CYB):m.14790A>G4519MT-CYBBenignrs1603224887RCV000855155; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1479014790M:g.14790A>G-
NC_012920.1(MT-CYB):m.14792C>T4519MT-CYBUncertain significancers1603224892RCV000855156; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1479214792M:g.14792C>T-
NC_012920.1(MT-CYB):m.14793A>G4519MT-CYBBenignrs2853504RCV000855157; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1479314793M:g.14793A>G-
NC_012920.1(MT-CYB):m.14795T>C4519MT-CYBUncertain significancers1603224896RCV000855158|RCV002287449; NMONDO: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:104M1479514795M:g.14795T>C-
NC_012920.1(MT-CYB):m.14798T>C4519MT-CYBBenignrs28357681RCV000855159; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1479814798M:g.14798T>C-
NC_012920.1(MT-CYB):m.14804G>A4519MT-CYBUncertain significancers1603224902RCV000855160; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1480414804M:g.14804G>A-
NC_012920.1(MT-CYB):m.14813A>T4519MT-CYBUncertain significancers1603224906RCV000855161; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1481314813M:g.14813A>T-
NC_012920.1(MT-CYB):m.14825A>G4519MT-CYBUncertain significancers1603224912RCV000855162; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1482514825M:g.14825A>G-
NC_012920.1(MT-CYB):m.14826T>C4519MT-CYBUncertain significancers1603224914RCV000855163; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1482614826M:g.14826T>C-
m.14831G>A4519MT-CYBBenignrs199795644RCV000055706|RCV000855165; NHuman 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:506M1483114831M:g.14831G>AClinGen:CA344826C0917796 535000 Leber's optic atrophy;
NC_012920.1(MT-CYB):m.14831G>C4519MT-CYBUncertain significancers199795644RCV000855164; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1483114831M:g.14831G>C-
NC_012920.1(MT-CYB):m.14832C>T4519MT-CYBLikely benignrs1603224915RCV000855166; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1483214832M:g.14832C>T-
NC_012920.1(MT-CYB):m.14838G>A4519MT-CYBUncertain significancers1603224920RCV000855167; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1483814838M:g.14838G>A-
NC_012920.1(MT-CYB):m.14841A>G4519MT-CYBLikely benignrs1556424497RCV000855168; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1484114841M:g.14841A>G-
m.14849T>C4519MT-CYBUncertain significancers207460004RCV000010323|RCV000855170|RCV002260587; YMedGen:C4016599|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M1484914849M:g.14849T>CClinGen:CA120623,OMIM:516020.0012C4016599 Exercise intolerance, cardiomyopathy, and septooptic dysplasia;
NC_012920.1(MT-CYB):m.14858G>A4519MT-CYBUncertain significancers1603224930RCV000855171; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1485814858M:g.14858G>A-
NC_012920.1(MT-CYB):m.14861G>A4519MT-CYBBenignrs2853505RCV000855172; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1486114861M:g.14861G>A-
NC_012920.1(MT-CYB):m.14862C>T4519MT-CYBBenignrs1603224933RCV000855173; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1486214862M:g.14862C>T-
NC_012920.1(MT-CYB):m.14870A>G4519MT-CYBBenignrs1603224936RCV000855174; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1487014870M:g.14870A>G-
NC_012920.1(MT-CYB):m.14871T>C4519MT-CYBLikely benignrs28660155RCV000855175; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1487114871M:g.14871T>C-
NC_012920.1(MT-CYB):m.14873C>T4519MT-CYBUncertain significancers879056276RCV000855176; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1487314873M:g.14873C>T-
NC_012920.1(MT-CYB):m.14879A>T4519MT-CYBLikely benignrs1603224945RCV000855177; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1487914879M:g.14879A>T-
NC_012920.1(MT-CYB):m.14880T>C4519MT-CYBUncertain significancers1603224948RCV000855178; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1488014880M:g.14880T>C-
NC_012920.1(MT-CYB):m.14883C>T4519MT-CYBBenignrs1603224950RCV000855179; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1488314883M:g.14883C>T-
NC_012920.1(MT-CYB):m.14888G>A4519MT-CYBUncertain significancers1603224952RCV000855180; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1488814888M:g.14888G>A-
NC_012920.1(MT-CYB):m.14895T>C4519MT-CYBUncertain significancers1603224957RCV000855181; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1489514895M:g.14895T>C-
NC_012920.1(MT-CYB):m.14900G>A4519MT-CYBUncertain significancers1603224960RCV000855182; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1490014900M:g.14900G>A-
NC_012920.1(MT-CYB):m.14921G>A4519MT-CYBUncertain significancers1603224964RCV000855183; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1492114921M:g.14921G>A-
NC_012920.1(MT-CYB):m.14924T>C4519MT-CYBUncertain significancers1603224966RCV000855184; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1492414924M:g.14924T>C-
NC_012920.1(MT-CYB):m.14927A>G4519MT-CYBBenignrs201551481RCV000855185; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1492714927M:g.14927A>G-
NC_012920.1(MT-CYB):m.14945G>A4519MT-CYBUncertain significancers1603224974RCV000855186; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1494514945M:g.14945G>A-
NC_012920.1(MT-CYB):m.14952T>C4519MT-CYBUncertain significancers1603224975RCV000855187; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1495214952M:g.14952T>C-
NC_012920.1(MT-CYB):m.14954A>G4519MT-CYBLikely benignrs1603224977RCV000855188; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1495414954M:g.14954A>G-
NC_012920.1(MT-CYB):m.14958G>A4519MT-CYBUncertain significancers1603224979RCV000855189; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1495814958M:g.14958G>A-
NC_012920.1(MT-CYB):m.14960G>A4519MT-CYBUncertain significancers1603224981RCV000855190; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1496014960M:g.14960G>A-
NC_012920.1(MT-CYB):m.14963G>A4519MT-CYBUncertain significancers1603224985RCV000855191; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1496314963M:g.14963G>A-
NC_012920.1(MT-CYB):m.14969T>C4519MT-CYBUncertain significancers1569484685RCV000756354|RCV000855192; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1496914969m.14969T>C-
NC_012920.1(MT-CYB):m.14970A>G4519MT-CYBBenignrs1556424510RCV000855193; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1497014970M:g.14970A>G-
NC_012920.1(MT-CYB):m.14973G>A4519MT-CYBUncertain significancers1603224995RCV000855194; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1497314973M:g.14973G>A-
NC_012920.1(MT-CYB):m.14976G>A4519MT-CYBUncertain significancers1603224997RCV000855195; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1497614976M:g.14976G>A-
NC_012920.1(MT-CYB):m.14978A>G4519MT-CYBBenignrs199997767RCV000855196; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1497814978M:g.14978A>G-
NC_012920.1(MT-CYB):m.14979T>C4519MT-CYBBenignrs200786872RCV000855197; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1497914979M:g.14979T>C-
NC_012920.1(MT-CYB):m.14980C>A4519MT-CYBUncertain significancers1603225000RCV000855198; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1498014980M:g.14980C>A-
NC_012920.1(MT-CYB):m.14982T>C4519MT-CYBUncertain significancers1603225002RCV000855199; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1498214982M:g.14982T>C-
m.14985G>A4519MT-CYBUncertain significancers207459995RCV000010314|RCV000855200; NMONDO:MONDO:0023113,MedGen:CN280943|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1498514985M:g.14985G>AClinGen:CA250587,OMIM:516020.0003CN029768 Familial colorectal cancer;
NC_012920.1(MT-CYB):m.14990C>T4519MT-CYBBenignrs1603225008RCV000855201; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1499014990M:g.14990C>T-
NC_012920.1(MT-CYB):m.14996G>A4519MT-CYBLikely benignrs1603225010RCV000855202; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1499614996M:g.14996G>A-
NC_012920.1(MT-CYB):m.15002G>A4519MT-CYBBenignrs370448948RCV000855203; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1500215002M:g.15002G>A-
NC_012920.1(MT-CYB):m.15003G>A4519MT-CYBUncertain significancers1603225014RCV000855204; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1500315003M:g.15003G>A-
NC_012920.1(MT-CYB):m.15011A>G4519MT-CYBUncertain significancers1603225021RCV000855205; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1501115011M:g.15011A>G-
NC_012920.1(MT-CYB):m.15014T>C4519MT-CYBBenignrs1603225022RCV000855206; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1501415014M:g.15014T>C-
NC_012920.1(MT-CYB):m.15016C>A4519MT-CYBUncertain significancers1603225024RCV000855207; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1501615016M:g.15016C>A-
NC_012920.1(MT-CYB):m.15024G>C4519MT-CYBLikely benignrs1603225028RCV000855208; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1502415024M:g.15024G>C-
NC_012920.1(MT-CYB):m.15033T>C4519MT-CYBUncertain significancers1603225033RCV000855209; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1503315033M:g.15033T>C-
NC_012920.1(MT-CYB):m.15045G>A4519MT-CYBUncertain significancers1603225041RCV000855210; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1504515045M:g.15045G>A-
NC_012920.1(MT-CYB):m.15047G>A4519MT-CYBBenignrs1603225043RCV000855211; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1504715047M:g.15047G>A-
NC_012920.1(MT-CYB):m.15048G>C4519MT-CYBUncertain significancers1603225045RCV000855212; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1504815048M:g.15048G>C-
NC_012920.1(MT-CYB):m.15059G>A4519MT-CYBUncertain significancers1603225052RCV000855213; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1505915059M:g.15059G>A-
NC_012920.1:m.15060G>A4519MT-CYBUncertain significancers1057516072RCV000408920|RCV000855214; NMONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544; MedGen:CN239810|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1506015060M:g.15060G>AClinGen:CA16040639CN239810 Bilateral lesions of basal ganglia;
NC_012920.1(MT-CYB):m.15062T>C4519MT-CYBUncertain significancers1603225056RCV000855215; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1506215062M:g.15062T>C-
NC_012920.1(MT-CYB):m.15071T>C4519MT-CYBBenign/Likely benignrs199999794RCV000514225|RCV000855216; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1507115071M:g.15071T>CClinGen:CA337100260CN517202 not provided;
NC_012920.1(MT-CYB):m.15074T>C4519MT-CYBBenignrs201169089RCV000855217; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1507415074M:g.15074T>C-
NC_012920.1(MT-CYB):m.15077G>A4519MT-CYBBenignrs201943501RCV000855218; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1507715077M:g.15077G>A-
NC_012920.1(MT-CYB):m.15078A>G4519MT-CYBUncertain significancers1603225065RCV000855219; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1507815078M:g.15078A>G-
NC_012920.1(MT-CYB):m.15080A>G4519MT-CYBBenignrs386829235RCV000855220; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1508015080M:g.15080A>G-
NC_012920.1(MT-CYB):m.15090T>C4519MT-CYBLikely benignrs1603225069RCV000855221; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1509015090M:g.15090T>C-
NC_012920.1:m.15098A>G4519MT-CYBLikely benignrs527236172RCV000133414|RCV000855222; NHuman Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1509815098M:g.15098A>GClinGen:CA170522C0919267 167000 Neoplasm of ovary;
NC_012920.1(MT-CYB):m.15099T>C4519MT-CYBLikely benignrs1603225077RCV000855223; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1509915099M:g.15099T>C-
NC_012920.1(MT-CYB):m.15100C>A4519MT-CYBUncertain significancers1603225079RCV000855224; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1510015100M:g.15100C>A-
NC_012920.1(MT-CYB):m.15110G>A4519MT-CYBBenignrs28357685RCV000855225; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1511015110M:g.15110G>A-
NC_012920.1(MT-CYB):m.15113A>G4519MT-CYBBenignrs1603225089RCV000855226; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1511315113M:g.15113A>G-
NC_012920.1(MT-CYB):m.15117T>C4519MT-CYBUncertain significancers1603225092RCV000855227|RCV001796804; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M1511715117M:g.15117T>C-
NC_012920.1(MT-CYB):m.15119G>A4519MT-CYBBenignrs201194402RCV000855228; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1511915119M:g.15119G>A-
NC_012920.1(MT-CYB):m.15122A>G4519MT-CYBLikely benignrs1556424535RCV000855229; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1512215122M:g.15122A>G-
NC_012920.1(MT-CYB):m.15138A>G4519MT-CYBUncertain significancers1603225106RCV000855230; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1513815138M:g.15138A>G-
NC_012920.1(MT-CYB):m.15141T>C4519MT-CYBUncertain significancers1603225108RCV000855231; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1514115141M:g.15141T>C-
NC_012920.1(MT-CYB):m.15152G>A4519MT-CYBUncertain significancers1603225113RCV000855233; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1515215152M:g.15152G>A-
NC_012920.1(MT-CYB):m.15153G>A4519MT-CYBUncertain significancers1556424536RCV000855234; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1515315153M:g.15153G>A-
NC_012920.1(MT-CYB):m.15159T>C4519MT-CYBUncertain significancers1603225114RCV000855235; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1515915159M:g.15159T>C-
NC_012920.1(MT-CYB):m.15164T>C4519MT-CYBBenignrs1603225118RCV000855236; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1516415164M:g.15164T>C-
NC_012920.1(MT-CYB):m.15191T>A4519MT-CYBUncertain significancers878912989RCV000855237; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1519115191M:g.15191T>A-
NC_012920.1(MT-CYB):m.15200G>A4519MT-CYBUncertain significancers1603225142RCV000855238; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1520015200M:g.15200G>A-
NC_012920.1(MT-CYB):m.15203A>G4519MT-CYBBenignrs1603225143RCV000855239; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1520315203M:g.15203A>G-
NC_012920.1(MT-CYB):m.15204T>C4519MT-CYBBenignrs28357687RCV000855240; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1520415204M:g.15204T>C-
NC_012920.1(MT-CYB):m.15212A>G4519MT-CYBLikely benignrs1603225150RCV000855241; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1521215212M:g.15212A>G-
NC_012920.1(MT-CYB):m.15213T>C4519MT-CYBLikely benignrs1603225151RCV000855242; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1521315213M:g.15213T>C-
NC_012920.1(MT-CYB):m.15218A>G4519MT-CYBBenignrs2853506RCV000855243; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1521815218M:g.15218A>G-
NC_012920.1(MT-CYB):m.15221G>A4519MT-CYBBenignrs1603225157RCV000855244; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1522115221M:g.15221G>A-
NC_012920.1(MT-CYB):m.15222A>G4519MT-CYBUncertain significancers1603225158RCV000855245; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1522215222M:g.15222A>G-
NC_012920.1(MT-CYB):m.15228T>C4519MT-CYBUncertain significancers1603225161RCV000855246; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1522815228M:g.15228T>C-
NC_012920.1(MT-CYB):m.15233T>C4519MT-CYBUncertain significancers1603225163RCV000855247; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1523315233M:g.15233T>C-
NC_012920.1(MT-CYB):m.15233T>G4519MT-CYBUncertain significancers1603225163RCV000855248; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1523315233M:g.15233T>G-
NC_012920.1(MT-CYB):m.15236A>G4519MT-CYBBenignrs386829239RCV000855249; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1523615236M:g.15236A>G-
NC_012920.1(MT-CYB):m.15237T>G4519MT-CYBUncertain significancers879217377RCV000855250; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1523715237M:g.15237T>G-
NC_012920.1(MT-CYB):m.15238C>A4519MT-CYBUncertain significancers1603225166RCV000855251; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1523815238M:g.15238C>A-
m.15242G>A4519MT-CYBPathogenicrs207459999RCV000010318|RCV000855252; NMONDO:MONDO:0004675,MedGen:C0162666|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1524215242M:g.15242G>AClinGen:CA120618,OMIM:516020.0007C0162666 Mitochondrial encephalomyopathy;
NC_012920.1(MT-CYB):m.15243G>A4519MT-CYBUncertain significancers1603225167RCV000855253; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1524315243M:g.15243G>A-
NC_012920.1(MT-CYB):m.15245G>A4519MT-CYBUncertain significancers1603225169RCV000855254; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1524515245M:g.15245G>A-
m.15257G>A4519MT-CYBBenignrs41518645RCV000010312|RCV000855257; NHuman 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:506M1525715257M:g.15257G>AClinGen:CA340931,OMIM:516020.0001C0917796 535000 Leber's optic atrophy;
NC_012920.1(MT-CYB):m.15257_15258delinsAG4519MT-CYBUncertain significancers1603225179RCV000855256; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1525715258NC_012920.1:m.15257_15258delinsAG-
NC_012920.1(MT-CYB):m.15261G>A4519MT-CYBBenignrs1556424551RCV000855258; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1526115261M:g.15261G>A-
NC_012920.1(MT-CYB):m.15263C>T4519MT-CYBBenignrs200455825RCV000855259; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1526315263M:g.15263C>T-
NC_012920.1(MT-CYB):m.15266A>G4519MT-CYBUncertain significancers1603225185RCV000855260; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1526615266M:g.15266A>G-
NC_012920.1(MT-CYB):m.15272A>G4519MT-CYBBenignrs1603225187RCV000855261; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1527215272M:g.15272A>G-
NC_012920.1(MT-CYB):m.15273C>A4519MT-CYBUncertain significancers1603225189RCV000855262; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1527315273M:g.15273C>A-
m.15287T>C4519MT-CYBBenignrs527236044RCV000128805|RCV000855263; NMONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1528715287M:g.15287T>CClinGen:CA269988C0346153 114480 Familial cancer of breast;
NC_012920.1(MT-CYB):m.15294T>C4519MT-CYBUncertain significancers1603225203RCV000855264; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1529415294M:g.15294T>C-
NC_012920.1(MT-CYB):m.15300T>C4519MT-CYBBenignrs1556424556RCV000855265; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1530015300M:g.15300T>C-
NC_012920.1(MT-CYB):m.15309T>C4519MT-CYBUncertain significancers1603225211RCV000855266; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1530915309M:g.15309T>C-
NC_012920.1(MT-CYB):m.15311A>G4519MT-CYBBenignrs35070048RCV000855267; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1531115311M:g.15311A>G-
NC_012920.1(MT-CYB):m.15312T>C4519MT-CYBLikely benignrs1603225215RCV000855268; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1531215312M:g.15312T>C-
NC_012920.1:m.15314G>A4519MT-CYBBenignrs527236176RCV000133418|RCV000855269; NHuman Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1531415314M:g.15314G>AClinGen:CA170523C0919267 167000 Neoplasm of ovary;
NC_012920.1(MT-CYB):m.15315C>T4519MT-CYBBenignrs879191792RCV000855270; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1531515315M:g.15315C>T-
NC_012920.1(MT-CYB):m.15317G>A4519MT-CYBBenignrs2853507RCV000855271; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1531715317M:g.15317G>A-
NC_012920.1:m.15323G>A4519MT-CYBBenignrs527236177RCV000133419|RCV000855272; NMONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1532315323M:g.15323G>AClinGen:CA270610C0346153 114480 Familial cancer of breast;
m.15326A>G4519MT-CYBBenignrs2853508RCV000128807|RCV000855273|RCV002221492; NMONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M1532615326M:g.15326A>GClinGen:CA269989C0346153 114480 Familial cancer of breast;
NC_012920.1(MT-CYB):m.15326_15327inv4519MT-CYBUncertain significance-1RCV000855274; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1532615327NC_012920.1:m.15326_15327inv-
NC_012920.1(MT-CYB):m.15327C>T4519MT-CYBUncertain significancers1603225222RCV000855275; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1532715327M:g.15327C>T-
NC_012920.1(MT-CYB):m.15336T>A4519MT-CYBUncertain significancers1603225228RCV000855276; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1533615336M:g.15336T>A-
NC_012920.1(MT-CYB):m.15341T>C4519MT-CYBBenignrs1603225233RCV000855277; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1534115341M:g.15341T>C-
NC_012920.1(MT-CYB):m.15357G>A4519MT-CYBUncertain significancers1603225244RCV000855278; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1535715357M:g.15357G>A-
NC_012920.1(MT-CYB):m.15377A>G4519MT-CYBLikely benignrs1603225248RCV000855279; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1537715377M:g.15377A>G-
NC_012920.1(MT-CYB):m.15380A>G4519MT-CYBLikely benignrs1603225250RCV000855280; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1538015380M:g.15380A>G-
NC_012920.1(MT-CYB):m.15381C>T4519MT-CYBLikely benignrs199721378RCV000855281; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1538115381M:g.15381C>T-
NC_012920.1(MT-CYB):m.15383T>C4519MT-CYBBenignrs1603225252RCV000855282; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1538315383M:g.15383T>C-
NC_012920.1(MT-CYB):m.15386C>T4519MT-CYBBenignrs1556424581RCV000855283; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1538615386M:g.15386C>T-
NC_012920.1(MT-CYB):m.15401A>G4519MT-CYBBenignrs200521299RCV000855284; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1540115401M:g.15401A>G-
NC_012920.1(MT-CYB):m.15402C>T4519MT-CYBBenignrs879163418RCV000855285; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1540215402M:g.15402C>T-
NC_012920.1(MT-CYB):m.15404T>C4519MT-CYBUncertain significancers1603225259RCV000855286; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1540415404M:g.15404T>C-
NC_012920.1(MT-CYB):m.15413T>C4519MT-CYBUncertain significancers1603225265RCV000855287; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1541315413M:g.15413T>C-
NC_012920.1(MT-CYB):m.15414A>T4519MT-CYBUncertain significancers1603225266RCV000855288; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1541415414M:g.15414A>T-
NC_012920.1(MT-CYB):m.15428G>A4519MT-CYBUncertain significancers1603225270RCV000855289; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1542815428M:g.15428G>A-
NC_012920.1:m.15431G>A4519MT-CYBBenignrs193302993RCV000133455|RCV000855290; NHuman Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1543115431M:g.15431G>AClinGen:CA345758C0919267 167000 Neoplasm of ovary;
NC_012920.1(MT-CYB):m.15434C>T4519MT-CYBLikely benignrs1603225279RCV000855291; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1543415434M:g.15434C>T-
NC_012920.1(MT-CYB):m.15449T>C4519MT-CYBBenignrs1603225289RCV000855293; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1544915449M:g.15449T>C-
NC_012920.1(MT-CYB):m.15450T>C4519MT-CYBLikely benignrs1603225291RCV000855294; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1545015450M:g.15450T>C-
NC_012920.1:m.15452C>A4519MT-CYBBenignrs193302994RCV000133456|RCV000855295; NHuman Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1545215452M:g.15452C>AClinGen:CA345759C0919267 167000 Neoplasm of ovary;
NC_012920.1(MT-CYB):m.15452_15453delinsAC4519MT-CYBUncertain significancers1603225292RCV000855296; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1545215453NC_012920.1:m.15452_15453delinsAC-
NC_012920.1:m.15453T>C4519MT-CYBUncertain significancers527236184RCV000133428|RCV000855297; NHuman Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1545315453M:g.15453T>CClinGen:CA170527C0919267 167000 Neoplasm of ovary;
NC_012920.1:m.15458T>C4519MT-CYBBenignrs527236185RCV000133429|RCV000855298; NMONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1545815458M:g.15458T>CClinGen:CA270616C0346153 114480 Familial cancer of breast;
NC_012920.1:m.15459C>T4519MT-CYBLikely benignrs527236186RCV000133430|RCV000855299; NHuman Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1545915459M:g.15459C>TClinGen:CA170528C0919267 167000 Neoplasm of ovary;
NC_012920.1(MT-CYB):m.15462T>C4519MT-CYBUncertain significancers1603225298RCV000855300; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1546215462M:g.15462T>C-
NC_012920.1(MT-CYB):m.15465T>C4519MT-CYBUncertain significancers1603225299RCV000855301; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1546515465M:g.15465T>C-
NC_012920.1(MT-CYB):m.15467A>G4519MT-CYBConflicting interpretations of pathogenicityrs1569484723RCV000756355|RCV000855302; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1546715467m.15467A>G-
NC_012920.1(MT-CYB):m.15468C>T4519MT-CYBUncertain significancers1603225301RCV000855303; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1546815468M:g.15468C>T-
NC_012920.1(MT-CYB):m.15479T>C4519MT-CYBBenignrs202008188RCV000855304; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1547915479M:g.15479T>C-
NC_012920.1(MT-CYB):m.15483C>T4519MT-CYBUncertain significancers1603225306RCV000855305; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1548315483M:g.15483C>T-
NC_012920.1(MT-CYB):m.15488G>A4519MT-CYBUncertain significancers1603225310RCV000855306; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1548815488M:g.15488G>A-
m.15497G>A4519MT-CYBBenign/Likely benignrs199951903RCV000022894|RCV000434000|RCV000855307; NHuman Phenotype Ontology:HP:0001513,MeSH:D009765,MedGen:C0028754, Orphanet:71529|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1549715497M:g.15497G>AClinGen:CA210805,OMIM:516020.0014CN517202 not provided;
m.15498G>A4519MT-CYBUncertain significancers207460003RCV000010322|RCV000855308; NHuman Phenotype Ontology:HP:0005152,MONDO:MONDO:0010771,MedGen:C1708371,OMIM:500000, Orphanet:137675|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1549815498M:g.15498G>AClinGen:CA120622,OMIM:516020.0011C1708371 500000 Infantile histiocytoid cardiomyopathy;
NC_012920.1(MT-CYB):m.15500G>A4519MT-CYBUncertain significancers1603225317RCV000855309; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1550015500M:g.15500G>A-
NC_012920.1(MT-CYB):m.15501A>G4519MT-CYBUncertain significancers1603225319RCV000855310; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1550115501M:g.15501A>G-
NC_012920.1(MT-CYB):m.15512T>C4519MT-CYBBenignrs879031246RCV000855311; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1551215512M:g.15512T>C-
NC_012920.1(MT-CYB):m.15519T>A4519MT-CYBUncertain significancers200913192RCV000855313; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1551915519M:g.15519T>A-
NC_012920.1(MT-CYB):m.15519T>C4519MT-CYBBenignrs200913192RCV000855312; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1551915519M:g.15519T>C-
NC_012920.1(MT-CYB):m.15521G>A4519MT-CYBLikely benignrs1603225327RCV000855314; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1552115521M:g.15521G>A-
NC_012920.1(MT-CYB):m.15522C>G4519MT-CYBUncertain significancers1603225329RCV000855315; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1552215522M:g.15522C>G-
NC_012920.1(MT-CYB):m.15524A>G4519MT-CYBBenignrs1603225331RCV000855316; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1552415524M:g.15524A>G-
NC_012920.1(MT-CYB):m.15525A>G4519MT-CYBUncertain significancers1603225333RCV000855317; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1552515525M:g.15525A>G-
NC_012920.1(MT-CYB):m.15531T>C4519MT-CYBUncertain significancers1603225336RCV000855318; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1553115531M:g.15531T>C-
NC_012920.1(MT-CYB):m.15533A>G4519MT-CYBLikely benignrs1556424601RCV000855319; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1553315533M:g.15533A>G-
NC_012920.1(MT-CYB):m.15534A>G4519MT-CYBUncertain significancers1603225337RCV000855320; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1553415534M:g.15534A>G-
NC_012920.1(MT-CYB):m.15542C>T4519MT-CYBUncertain significancers1603225339RCV000855321; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1554215542M:g.15542C>T-
NC_012920.1(MT-CYB):m.15557G>A4519MT-CYBUncertain significancers1603225350RCV000855322; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1555715557M:g.15557G>A-
NC_012920.1(MT-CYB):m.15567T>C4519MT-CYBUncertain significancers1603225354RCV000855323; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1556715567M:g.15567T>C-
NC_012920.1(MT-CYB):m.15575G>A4519MT-CYBUncertain significancers1603225356RCV000855324; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1557515575M:g.15575G>A-
NC_012920.1(MT-CYB):m.15581A>G4519MT-CYBUncertain significancers1603225359RCV000855326; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1558115581M:g.15581A>G-
NC_012920.1(MT-CYB):m.15584A>G4519MT-CYBUncertain significancers1603225361RCV000855327; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1558415584M:g.15584A>G-
NC_012920.1(MT-CYB):m.15596G>A4519MT-CYBBenignrs1603225369RCV000855328; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1559615596M:g.15596G>A-
NC_012920.1(MT-CYB):m.15612G>A4519MT-CYBUncertain significancers1603225372RCV000855329; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1561215612M:g.15612G>A-
NC_012920.1(MT-CYB):m.15614G>A4519MT-CYBUncertain significancers1603225376RCV000855330; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1561415614M:g.15614G>A-
NC_012920.1(MT-CYB):m.15617G>A4519MT-CYBBenignrs1556424625RCV000855333; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1561715617M:g.15617G>A-
NC_012920.1(MT-CYB):m.15617G>C4519MT-CYBUncertain significancers1556424625RCV000855332; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1561715617M:g.15617G>C-
NC_012920.1(MT-CYB):m.15623G>A4519MT-CYBUncertain significancers1603225385RCV000855334; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1562315623M:g.15623G>A-
NC_012920.1(MT-CYB):m.15638A>G4519MT-CYBUncertain significancers1603225395RCV000855335; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1563815638M:g.15638A>G-
NC_012920.1(MT-CYB):m.15639T>C4519MT-CYBUncertain significancers1603225396RCV000855336; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1563915639M:g.15639T>C-
NC_012920.1(MT-CYB):m.15642T>C4519MT-CYBUncertain significancers1603225397RCV000855337; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1564215642M:g.15642T>C-
NC_012920.1(MT-CYB):m.15644A>G4519MT-CYBBenignrs1603225400RCV000855338; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1564415644M:g.15644A>G-
NC_012920.1(MT-CYB):m.15650G>A4519MT-CYBLikely benignrs1556424635RCV000855339; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1565015650M:g.15650G>A-
NC_012920.1(MT-CYB):m.15651C>T4519MT-CYBBenignrs1603225405RCV000855340; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1565115651M:g.15651C>T-
NC_012920.1(MT-CYB):m.15653A>G4519MT-CYBUncertain significancers878890251RCV000855341; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1565315653M:g.15653A>G-
NC_012920.1(MT-CYB):m.15653A>T4519MT-CYBUncertain significancers878890251RCV000855342; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1565315653M:g.15653A>T-
NC_012920.1(MT-CYB):m.15654T>C4519MT-CYBLikely benignrs1556424638RCV000855343; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1565415654M:g.15654T>C-
NC_012920.1(MT-CYB):m.15657T>C4519MT-CYBLikely benignrs1556424640RCV000855344; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1565715657M:g.15657T>C-
NC_012920.1(MT-CYB):m.15662A>G4519MT-CYBBenignrs3094280RCV000855345; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1566215662M:g.15662A>G-
NC_012920.1(MT-CYB):m.15663T>C4519MT-CYBBenignrs369851331RCV000855346; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1566315663M:g.15663T>C-
NC_012920.1(MT-CYB):m.15664C>A4519MT-CYBLikely benignrs1603225414RCV000855347; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1566415664M:g.15664C>A-
NC_012920.1(MT-CYB):m.15672T>C4519MT-CYBBenignrs199967113RCV000855348; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1567215672M:g.15672T>C-
NC_012920.1(MT-CYB):m.15674T>C4519MT-CYBBenignrs1603225419RCV000855349; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1567415674M:g.15674T>C-
NC_012920.1(MT-CYB):m.15686A>G4519MT-CYBUncertain significancers1603225422RCV000855350; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1568615686M:g.15686A>G-
NC_012920.1(MT-CYB):m.15690T>C4519MT-CYBUncertain significancers1603225423RCV000855351; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1569015690M:g.15690T>C-
NC_012920.1(MT-CYB):m.15692A>G4519MT-CYBBenignrs1603225425RCV000855352; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1569215692M:g.15692A>G-
NC_012920.1(MT-CYB):m.15693T>C4519MT-CYBBenignrs200975632RCV000855353; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1569315693M:g.15693T>C-
NC_012920.1(MT-CYB):m.15708G>C4519MT-CYBUncertain significancers1556424649RCV000855354; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1570815708M:g.15708G>C-
NC_012920.1(MT-CYB):m.15725C>T4519MT-CYBBenignrs1603225438RCV000855355; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1572515725M:g.15725C>T-
NC_012920.1(MT-CYB):m.15731G>A4519MT-CYBBenignrs1556424652RCV000855356; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1573115731M:g.15731G>A-
NC_012920.1(MT-CYB):m.15732C>T4519MT-CYBLikely benignrs879129589RCV000855357; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1573215732M:g.15732C>T-
NC_012920.1(MT-CYB):m.15734G>A4519MT-CYBBenignrs386829259RCV000855358; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1573415734M:g.15734G>A-
NC_012920.1(MT-CYB):m.15735C>T4519MT-CYBBenignrs1603225446RCV000855359; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1573515735M:g.15735C>T-
NC_012920.1(MT-CYB):m.15737G>A4519MT-CYBUncertain significancers1603225449RCV000855360; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1573715737M:g.15737G>A-
NC_012920.1(MT-CYB):m.15740C>T4519MT-CYBUncertain significancers1603225452RCV000855361; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1574015740M:g.15740C>T-
NC_012920.1(MT-CYB):m.15743C>T4519MT-CYBUncertain significancers1603225455RCV000855362; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1574315743M:g.15743C>T-
NC_012920.1(MT-CYB):m.15746A>G4519MT-CYBBenignrs386829260RCV000224723|RCV000855363; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1574615746M:g.15746A>GClinGen:CA10581377CN517202 not provided;
NC_012920.1(MT-CYB):m.15747T>C4519MT-CYBBenignrs1603225457RCV000855364; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1574715747M:g.15747T>C-
NC_012920.1:m.15758A>G4519MT-CYBBenignrs527236193RCV000133437|RCV000855365; NMONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1575815758M:g.15758A>GClinGen:CA270622C0346153 114480 Familial cancer of breast;
NC_012920.1(MT-CYB):m.15770C>T4519MT-CYBUncertain significancers1603225469RCV000855366; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1577015770M:g.15770C>T-
NC_012920.1(MT-CYB):m.15773G>A4519MT-CYBBenignrs386829261RCV000855367; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1577315773M:g.15773G>A-
NC_012920.1(MT-CYB):m.15774T>C4519MT-CYBLikely benignrs1603225473RCV000855368; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1577415774M:g.15774T>C-
NC_012920.1(MT-CYB):m.15776A>G4519MT-CYBLikely benignrs1603225477RCV000855369; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1577615776M:g.15776A>G-
NC_012920.1(MT-CYB):m.15777G>A4519MT-CYBBenign/Likely benignrs879182710RCV000440780|RCV000855370; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1577715777M:g.15777G>AClinGen:CA16603297CN517202 not provided;
NC_012920.1(MT-CYB):m.15777G>C4519MT-CYBBenignrs879182710RCV000855371; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1577715777M:g.15777G>C-
NC_012920.1(MT-CYB):m.15779T>C4519MT-CYBLikely benignrs1603225480RCV000855372; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1577915779M:g.15779T>C-
NC_012920.1(MT-CYB):m.15785T>C4519MT-CYBUncertain significancers879052837RCV000855373; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1578515785M:g.15785T>C-
NC_012920.1(MT-CYB):m.15789C>T4519MT-CYBBenignrs1556424663RCV000855374; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1578915789M:g.15789C>T-
NC_012920.1(MT-CYB):m.15791A>G4519MT-CYBLikely benignrs1556424666RCV000855375; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1579115791M:g.15791A>G-
NC_012920.1(MT-CYB):m.15793C>A4519MT-CYBUncertain significancers1603225497RCV000855376; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1579315793M:g.15793C>A-
NC_012920.1(MT-CYB):m.15803G>A4519MT-CYBBenignrs1603225508RCV000855377; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1580315803M:g.15803G>A-
NC_012920.1(MT-CYB):m.15804T>C4519MT-CYBBenignrs1556424669RCV000855378; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1580415804M:g.15804T>C-
m.15812G>A4519MT-CYBBenignrs200336777RCV000010313|RCV000855379; NHuman 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:506M1581215812M:g.15812G>AClinGen:CA254852,OMIM:516020.0002C0917796 535000 Leber's optic atrophy;
NC_012920.1(MT-CYB):m.15813T>C4519MT-CYBBenignrs1603225521RCV000855381; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1581315813M:g.15813T>C-
NC_012920.1(MT-CYB):m.15813T>G4519MT-CYBLikely benignrs1603225521RCV000855380; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1581315813M:g.15813T>G-
NC_012920.1(MT-CYB):m.15824A>G4519MT-CYBBenignrs28357376RCV000855382; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1582415824M:g.15824A>G-
NC_012920.1(MT-CYB):m.15828C>T4519MT-CYBLikely benignrs1603225527RCV000855383; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1582815828M:g.15828C>T-
NC_012920.1(MT-CYB):m.15831T>C4519MT-CYBUncertain significancers1603225529RCV000855384; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1583115831M:g.15831T>C-
NC_012920.1(MT-CYB):m.15834T>C4519MT-CYBUncertain significancers878937787RCV000855385; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1583415834M:g.15834T>C-
NC_012920.1(MT-CYB):m.15843T>C4519MT-CYBUncertain significancers1603225538RCV000855386; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1584315843M:g.15843T>C-
NC_012920.1(MT-CYB):m.15848A>G4519MT-CYBConflicting interpretations of pathogenicityrs1057520206RCV000426856|RCV000855387; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1584815848M:g.15848A>GClinGen:CA16603354CN517202 not provided;
NC_012920.1(MT-CYB):m.15849C>T4519MT-CYBBenignrs202225494RCV000855388; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1584915849M:g.15849C>T-
NC_012920.1(MT-CYB):m.15851A>G4519MT-CYBBenignrs3094281RCV000855389; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1585115851M:g.15851A>G-
NC_012920.1(MT-CYB):m.15852T>C4519MT-CYBBenignrs1603225544RCV000855390; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1585215852M:g.15852T>C-
NC_012920.1(MT-CYB):m.15852T>G4519MT-CYBUncertain significancers1603225544RCV000855391; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1585215852M:g.15852T>G-
NC_012920.1(MT-CYB):m.15860A>G4519MT-CYBBenignrs201023973RCV000855393; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1586015860M:g.15860A>G-
NC_012920.1(MT-CYB):m.15860A>T4519MT-CYBLikely benignrs201023973RCV000855392; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1586015860M:g.15860A>T-
NC_012920.1(MT-CYB):m.15873T>C4519MT-CYBUncertain significancers1603225557RCV000855394; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1587315873M:g.15873T>C-
NC_012920.1(MT-CYB):m.15882G>A4519MT-CYBUncertain significancers1603225560RCV000855395; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1588215882M:g.15882G>A-
NC_012920.1:m.15884G>A4519MT-CYBBenignrs527236195RCV000133439|RCV000855397; NHuman Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1588415884M:g.15884G>AClinGen:CA170530C0919267 167000 Neoplasm of ovary;
NC_012920.1:m.15884G>C4519MT-CYBBenignrs527236195RCV000238892|RCV000855396; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1588415884M:g.15884G>CClinGen:CA10586049CN169374 not specified;
NC_012920.1(MT-CYB):m.15885C>T4519MT-CYBBenignrs1603225562RCV000855398; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1588515885M:g.15885C>T-
NC_012920.1(MT-ND1):m.3307A>T4535MT-ND1Uncertain significancers1603218882RCV000853626; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33073307M:g.3307A>T-
m.3308T>C4535MT-ND1Benign/Likely benignrs28358582RCV000010379|RCV000010380|RCV000239184|RCV000853627; NMONDO:MONDO:0002032,MedGen:C0699790|EFO:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120|MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33083308M:g.3308T>CClinGen:CA340945,OMIM:516000.0007C0699790 114500 Carcinoma of colon;
m.3308T>G4535MT-ND1Likely benignrs28358582RCV000010381|RCV000853629; NEFO:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33083308M:g.3308T>GClinGen:CA340946,OMIM:516000.0008C0038644 272120 SUDDEN INFANT DEATH SYNDROME;
NC_012920.1(MT-ND1):m.3308delinsAC4535MT-ND1Uncertain significancers1603218887RCV000853628; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33083308M:g.3308_3309insC-
NC_012920.1(MT-ND1):m.3310C>T4535MT-ND1Uncertain significancers1603218889RCV000853630; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33103310M:g.3310C>T-
NC_012920.1(MT-ND1):m.3313A>G4535MT-ND1Uncertain significancers1603218891RCV000853631; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33133313M:g.3313A>G-
NC_012920.1(MT-ND1):m.3316G>A4535MT-ND1Benignrs2853516RCV000853633; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33163316M:g.3316G>A-
NC_012920.1(MT-ND1):m.3316G>C4535MT-ND1Uncertain significancers2853516RCV000853632; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33163316M:g.3316G>C-
NC_012920.1(MT-ND1):m.3320A>G4535MT-ND1Uncertain significancers1603218896RCV000853634; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33203320M:g.3320A>G-
NC_012920.1(MT-ND1):m.3328C>T4535MT-ND1Uncertain significancers1603218901RCV000853635; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33283328M:g.3328C>T-
NC_012920.1(MT-ND1):m.3335T>C4535MT-ND1Benignrs879173824RCV000853636; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33353335M:g.3335T>C-
NC_012920.1(MT-ND1):m.3337G>A4535MT-ND1Benignrs1556422709RCV000853637; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33373337M:g.3337G>A-
NC_012920.1(MT-ND1):m.3338T>C4535MT-ND1Benignrs201969351RCV000853638; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33383338M:g.3338T>C-
NC_012920.1(MT-ND1):m.3340C>T4535MT-ND1Likely benignrs1603218910RCV000853639; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33403340M:g.3340C>T-
NC_012920.1(MT-ND1):m.3344T>C4535MT-ND1Likely benignrs1603218912RCV000853640; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33443344M:g.3344T>C-
NC_012920.1(MT-ND1):m.3349A>G4535MT-ND1Benignrs879193727RCV000853641; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33493349M:g.3349A>G-
NC_012920.1(MT-ND1):m.3350T>C4535MT-ND1Benignrs1603218915RCV000853642; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33503350M:g.3350T>C-
NC_012920.1(MT-ND1):m.3357G>C4535MT-ND1Uncertain significancers1556422714RCV000853643|RCV001249404|RCV001796800; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380M33573357M:g.3357G>C-
NC_012920.1(MT-ND1):m.3358G>A4535MT-ND1Uncertain significancers1556422715RCV000853644; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33583358M:g.3358G>A-
NC_012920.1(MT-ND1):m.3368T>C4535MT-ND1Likely benignrs1603218920RCV000853645; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33683368M:g.3368T>C-
NC_012920.1(MT-ND1):m.3385A>G4535MT-ND1Likely benignrs879050714RCV000853647; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33853385M:g.3385A>G-
m.3388C>A4535MT-ND1Benignrs387906730RCV000022892|RCV000853648; NMONDO:MONDO:0010779,MedGen:C3151897,OMIM:500008, Orphanet:90641|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33883388M:g.3388C>AClinGen:CA259736,OMIM:516000.0016C3151897 500008 Deafness, nonsyndromic sensorineural, mitochondrial;
NC_012920.1(MT-ND1):m.3391G>A4535MT-ND1Benignrs1603218931RCV000853649; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33913391M:g.3391G>A-
m.3394T>C4535MT-ND1Conflicting interpretations of pathogenicityrs41460449RCV000010375|RCV000507319|RCV000853650; NHuman 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:506M33943394M:g.3394T>CClinGen:CA340944,OMIM:516000.0004C0917796 535000 Leber's optic atrophy;
NC_012920.1(MT-ND1):m.3395A>C4535MT-ND1Uncertain significancers1556422722RCV000853651; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33953395M:g.3395A>C-
NC_012920.1(MT-ND1):m.3395A>G4535MT-ND1Likely benignrs1556422722RCV000853652; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33953395M:g.3395A>G-
NC_012920.1(MT-ND1):m.3398T>C4535MT-ND1Benignrs201212638RCV000853654; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33983398M:g.3398T>C-
NC_012920.1(MT-ND1):m.3399A>T4535MT-ND1Benignrs386828905RCV000853655; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33993399M:g.3399A>T-
NC_012920.1(MT-ND1):m.3419A>G4535MT-ND1Uncertain significancers1603218949RCV000853656; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M34193419M:g.3419A>G-
NC_012920.1(MT-ND1):m.3421G>A4535MT-ND1Benignrs1603218954RCV000853657; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M34213421M:g.3421G>A-
NC_012920.1(MT-ND1):m.3427G>A4535MT-ND1Uncertain significancers1603218960RCV000853658; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M34273427M:g.3427G>A-
NC_012920.1(MT-ND1):m.3434A>G4535MT-ND1Benignrs202123618RCV000853659; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M34343434M:g.3434A>G-
NC_012920.1:m.3460G>A4535MT-ND1Pathogenicrs199476118RCV000010370|RCV000143998|RCV000757484|RCV000735416; YHuman 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:CN517202|M34603460M:g.3460G>AClinGen:CA120646,OMIM:516000.0001C0917796 535000 Leber's optic atrophy;
NC_012920.1:m.3481G>A4535MT-ND1Pathogenicrs587776433RCV000143999|RCV000853660; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M34813481M:g.3481G>AClinGen:CA345910C0023264 256000 Leigh syndrome;
NC_012920.1(MT-ND1):m.3488T>C4535MT-ND1Uncertain significancers1603218982RCV000853661; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M34883488M:g.3488T>C-
NC_012920.1(MT-ND1):m.3492A>C4535MT-ND1Likely benignrs878950749RCV000853662; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M34923492M:g.3492A>C-
NC_012920.1(MT-ND1):m.3496G>A4535MT-ND1Uncertain significancers1603218984RCV000853663; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M34963496M:g.3496G>A-
NC_012920.1(MT-ND1):m.3497C>T4535MT-ND1Benignrs200319905RCV000853664; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M34973497M:g.3497C>T-
NC_012920.1:m.3505A>G4535MT-ND1Benignrs28358585RCV000238711|RCV000853666|RCV000992358; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202M35053505M:g.3505A>GClinGen:CA10586050CN169374 not specified;
NC_012920.1(MT-ND1):m.3508A>G4535MT-ND1Uncertain significancers1603218990RCV000853667; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35083508M:g.3508A>G-
NC_012920.1(MT-ND1):m.3509T>C4535MT-ND1Uncertain significancers1603218992RCV000853668; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35093509M:g.3509T>C-
NC_012920.1(MT-ND1):m.3511A>G4535MT-ND1Benignrs386828909RCV000853669; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35113511M:g.3511A>G-
NC_012920.1(MT-ND1):m.3520A>G4535MT-ND1Benignrs1603218996RCV000853670; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35203520M:g.3520A>G-
NC_012920.1(MT-ND1):m.3523A>G4535MT-ND1Benignrs878982767RCV000853671; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35233523M:g.3523A>G-
NC_012920.1(MT-ND1):m.3526G>A4535MT-ND1Uncertain significancers1603218998RCV000853672; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35263526M:g.3526G>A-
NC_012920.1(MT-ND1):m.3533C>T4535MT-ND1Likely benignrs377091327RCV000853673; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35333533M:g.3533C>T-
NC_012920.1(MT-ND1):m.3535T>A4535MT-ND1Likely benignrs1603219004RCV000853674; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35353535M:g.3535T>A-
NC_012920.1(MT-ND1):m.3547A>G4535MT-ND1Benignrs28358586RCV000853675; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35473547M:g.3547A>G-
NC_012920.1:m.3548T>C4535MT-ND1Benignrs876661353RCV000223756|RCV000853676; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35483548M:g.3548T>CClinGen:CA10581196CN169374 not specified;
NC_012920.1(MT-ND1):m.3565A>G4535MT-ND1Benignrs2854133RCV000853677; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35653565M:g.3565A>G-
NC_012920.1(MT-ND1):m.3569C>T4535MT-ND1Uncertain significancers1603219022RCV000853678; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35693569M:g.3569C>T-
NC_012920.1(MT-ND1):m.3571C>T4535MT-ND1Benignrs200453691RCV000853679; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35713571M:g.3571C>T-
NC_012920.1(MT-ND1):m.3592G>A4535MT-ND1Benignrs1603219036RCV000853681; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35923592M:g.3592G>A-
NC_012920.1(MT-ND1):m.3593T>C4535MT-ND1Benignrs2854134RCV000853682; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35933593M:g.3593T>C-
NC_012920.1(MT-ND1):m.3607G>A4535MT-ND1Uncertain significancers1556422761RCV000853683; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M36073607M:g.3607G>A-
NC_012920.1(MT-ND1):m.3622C>A4535MT-ND1Uncertain significancers1603219048RCV000853684; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M36223622M:g.3622C>A-
NC_012920.1(MT-ND1):m.3628A>T4535MT-ND1Likely benignrs1603219051RCV000853685; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M36283628M:g.3628A>T-
NC_012920.1(MT-ND1):m.3640G>A4535MT-ND1Likely benignrs1603219059RCV000853686; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M36403640M:g.3640G>A-
NC_012920.1(MT-ND1):m.3643G>A4535MT-ND1Uncertain significancers1603219061RCV000853687; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M36433643M:g.3643G>A-
NC_012920.1(MT-ND1):m.3644T>C4535MT-ND1Likely benignrs878991470RCV000853688; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M36443644M:g.3644T>C-
NC_012920.1(MT-ND1):m.3652A>G4535MT-ND1Uncertain significancers1603219066RCV000853689; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M36523652M:g.3652A>G-
NC_012920.1(MT-ND1):m.3653T>C4535MT-ND1Uncertain significancers1603219067RCV000853690; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M36533653M:g.3653T>C-
NC_012920.1(MT-ND1):m.3661T>G4535MT-ND1Uncertain significancers1603219070RCV000853691; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M36613661M:g.3661T>G-
NC_012920.1(MT-ND1):m.3670G>A4535MT-ND1Uncertain significancers1603219074RCV000853692|RCV000993795; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|6 conditionsM36703670M:g.3670G>A-
NC_012920.1(MT-ND1):m.3685T>C4535MT-ND1Likely pathogenic-1RCV001797044; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M368536853685-
NC_012920.1(MT-ND1):m.3701C>T4535MT-ND1Uncertain significancers1603219086RCV000853693; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M37013701M:g.3701C>T-
NC_012920.1(MT-ND1):m.3709G>A4535MT-ND1Uncertain significancers1603219090RCV000853694; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M37093709M:g.3709G>A-
NC_012920.1(MT-ND1):m.3710C>T4535MT-ND1Uncertain significancers1603219093RCV000853695; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M37103710M:g.3710C>T-
NC_012920.1(MT-ND1):m.3712G>A4535MT-ND1Uncertain significancers1603219095RCV000853696; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M37123712M:g.3712G>A-
NC_012920.1(MT-ND1):m.3713T>C4535MT-ND1Uncertain significancers1603219096RCV000853697; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M37133713M:g.3713T>C-
NC_012920.1(MT-ND1):m.3715G>A4535MT-ND1Uncertain significancers1603219097RCV000853698; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M37153715M:g.3715G>A-
NC_012920.1(MT-ND1):m.3736G>A4535MT-ND1Benignrs201513497RCV000853699; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M37363736M:g.3736G>A-
NC_012920.1(MT-ND1):m.3745G>A4535MT-ND1Benignrs1556422777RCV000853700; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M37453745M:g.3745G>A-
NC_012920.1(MT-ND1):m.3746C>T4535MT-ND1Benignrs199684756RCV000853701; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M37463746M:g.3746C>T-
NC_012920.1(MT-ND1):m.3749T>C4535MT-ND1Uncertain significancers1603219116RCV000853702; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M37493749M:g.3749T>C-
NC_012920.1(MT-ND1):m.3751A>G4535MT-ND1Uncertain significancers1603219119RCV000853703; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M37513751M:g.3751A>G-
NC_012920.1(MT-ND1):m.3764C>T4535MT-ND1Uncertain significancers1603219127RCV000853704; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M37643764M:g.3764C>T-
NC_012920.1(MT-ND1):m.3772A>G4535MT-ND1Uncertain significancers1603219135RCV000853705; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506