MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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Parent Node:
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Leigh disease (MONDO:0018859)
..Starting node
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Leigh syndrome ()

       Child Nodes:
........expandLeigh syndrome with cardiomyopathy ()
........expandLeigh syndrome with leukodystrophy ()
........expandmaternally-inherited Leigh syndrome ()



 Sister Nodes: 
..expandcongenital lactic acidosis, Saguenay-Lac-Saint-Jean type ()  LSDB  L: 00389;
..expandLeigh syndrome ()  LSDB  L: 00015;
..expandLeigh syndrome with nephrotic syndrome ()
..expandnecrotizing encephalomyelopathy, subacute, of Leigh, adult ()  LSDB  L: 00433;
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9723
Name:Leigh syndrome
Definition:
Alternative IDs:256000
ParentIDs:
TreeNumbers:
Synonyms:Leigh syndrome; Leigh syndrome due to mitochondrial Complex 1 deficiency; Leigh syndrome due to mitochondrial Complex 2 deficiency; Leigh syndrome due to mitochondrial Complex 3 deficiency; Leigh syndrome due to mitochondrial Complex 4 deficiency; Leigh syndrome due to mitochondrial Complex 5 defici
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM: 256000;
MSeqDR LSDB: 00015;  
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:  Mental retardation
14 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
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 pathogenic1987287870RCV001257515|RCV001290417|RCV003227945; N|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0957255,MedGen:C5830482,OMIM:62035921352867513528675121:g.35286751T>COMIM:600828.0003
NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg)617BCS1LPathogenic/Likely pathogenic1057521059RCV000432529|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)617BCS1LPathogenic121908577RCV000006545|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.-85G>A617BCS1LUncertain significance938140522RCV001142597|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:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; M22195244312195244312:g.219524431G>A-
NM_001079866.2(BCS1L):c.-53G>T617BCS1LUncertain significance886055624RCV000260413|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 significance886055625RCV000275953|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 significance188224298RCV000291289|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 pathogenicity145989550RCV000198605|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 pathogenicity367721351RCV000302189|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 significance886055626RCV000300923|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 pathogenicity144200704RCV000200525|RCV000886562|RCV001140853|RCV001140093|RCV001140092; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:25490222195258362195258362:g.219525836A>GClinGen:CA325107CN169374 not specified;
NM_001079866.2(BCS1L):c.171C>T (p.Asp57=)617BCS1LConflicting interpretations of pathogenicity756932413RCV000432338|RCV001140854|RCV001140856|RCV001140855|RCV001484726; NMedGen:CN169374|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MedGen:CN51720222195258812195258812:g.219525881C>TClinGen:CA2109614CN169374 not specified;
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)617BCS1LConflicting interpretations of pathogenicity142540289RCV000273790|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:C366190022195259112195259112:g.219525911C>TClinGen:CA2109620C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.258T>C (p.His86=)617BCS1LConflicting interpretations of pathogenicity886055627RCV000272188|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 significance776363896RCV000285241|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.550C>T (p.Arg184Cys)617BCS1LConflicting interpretations of pathogenicity121908578RCV000006546|RCV000034811|RCV000384654|RCV001142701|RCV001142702|RCV003472990; NMedGen:C4016851|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0009872,MedGen:C0266022195265712195265712: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 significance1939494232RCV001137959|RCV001137960|RCV001142703; 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:25490222195265872195265872:g.219526587A>G-
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile)617BCS1LConflicting interpretations of pathogenicity148278887RCV000200623|RCV000714568|RCV000949252|RCV001137962|RCV001137963|RCV001137961; NMedGen:CN169374|MedGen:CN239240|MedGen:C3661900|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:25490222195266342195266342:g.219526634G>AClinGen:CA325212CN169374 not specified;
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)617BCS1LBenign/Likely benign58447305RCV000123832|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:C3661900|MONDO:MONDO:0009872,MedGen:C0266022195266492195266492:g.219526649G>AClinGen:CA289666C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=)617BCS1LConflicting interpretations of pathogenicity781666793RCV000279975|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 pathogenicity148302981RCV000438295|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 pathogenicity112329020RCV000311482|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:C366190022195273352195273352:g.219527335G>AClinGen:CA2109770C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.996C>T (p.Asn332=)617BCS1LBenign33946522RCV000123833|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:C3661900|MONDO:MONDO:0009872,MedGen:C0266022195277122195277122:g.219527712C>TClinGen:CA289671C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile)617BCS1LConflicting interpretations of pathogenicity146731467RCV000825116|RCV000885856|RCV001140960|RCV001140962|RCV001140961; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:25490222195277162195277162:g.219527716G>A-
NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=)617BCS1LBenign35843327RCV000123835|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:C3661900|MONDO:MONDO:0009872,MedGen:C0266022195278662195278662:g.219527866T>CClinGen:CA289677C1864002 603358 GRACILE syndrome;
NC_012920.1:m.8993T>G-1covers 26 genes, none of which curated to show dosPathogenic199476133RCV000010273|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;
NM_001303.3(COX10):c.-170C>G1352COX10Uncertain significance886052597RCV000278677|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>A1352COX10Benign6502330RCV000336039|RCV000390210|RCV001672530; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:C3661900171397281113972811NC_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 benign28680987RCV000301058|RCV000367476|RCV000830944; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900171397281413972814NC_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 significance886052598RCV000307762|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 significance188803165RCV001127652|RCV001127653|RCV002491394; 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>C-
NM_001303.4(COX10):c.-89G>T1352COX10Uncertain significance188803165RCV001123556|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 benign77877576RCV000277116|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 significance376921957RCV000332179|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 significance373184679RCV000273590|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 pathogenicity201257809RCV000279297|RCV000373740|RCV000827262; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:C3661900171397289913972899NC_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 benign8076787RCV000124570|RCV000315716|RCV000379378|RCV000676603; NMedGen:CN169374|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190017139729551397295517: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 significance759643676RCV001124634|RCV001124633; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:25490517139776371397763717:g.13977637T>C-
NM_001303.4(COX10):c.64T>A (p.Trp22Arg)1352COX10Uncertain significance540737897RCV000284888|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 benign16948978RCV000124569|RCV000290887|RCV000385025|RCV000676604; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:C366190017139776791397767917: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 pathogenicity141481210RCV001125643|RCV001125644|RCV001718821; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:C366190017139776891397768917:g.13977689C>AClinGen:CA8402242CN169374 not specified;
NM_001303.4(COX10):c.123G>A (p.Arg41=)1352COX10Uncertain significance886052599RCV000345876|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 significance772223730RCV000315497|RCV000351189|RCV001859908|RCV002495013|RCV003243077; 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:619046|MeSH:D030342,MedGen:C0950123171397776913977769NC_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)1352COX10Benign2230351RCV000124571|RCV000311575|RCV000401023|RCV000676605; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:C366190017139800581398005817: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 pathogenicity569444237RCV000262578|RCV000357092|RCV002522914; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900171398006613980066NC_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 pathogenicity144000161RCV000899247|RCV001127734|RCV001127733; NMedGen:C3661900|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 benign16948986RCV000124572|RCV000298992|RCV000353817|RCV000676606; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:C366190017139801641398016417: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 pathogenicity145948285RCV000124573|RCV000975987|RCV001127736|RCV001127735; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:25490517139801761398017617:g.13980176C>TClinGen:CA290476CN169374 not specified;
NM_001303.4(COX10):c.311C>T (p.Pro104Leu)1352COX10Conflicting interpretations of pathogenicity202207627RCV000521510|RCV001127738|RCV001127737|RCV002476049; NMedGen:C3661900|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 significance141549844RCV001331898|RCV001865746|RCV002476548|RCV003169552; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0033635,MedGen:C5436682,OMIM:619046|MeSH:D030342,MedGen:C095012317139802681398026813980268-
NM_001303.4(COX10):c.476G>A (p.Arg159Gln)1352COX10Benign2072279RCV000124574|RCV000268376|RCV000322790|RCV000676607; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:C366190017139803501398035017: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=)1352COX10Benign2159132RCV000124568|RCV000264198|RCV000377462|RCV000676608; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:C366190017140054391400543917: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 pathogenicity371273328RCV000328617|RCV000383020|RCV001564175; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900171400547814005478NC_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 pathogenicity199668725RCV000288666|RCV000343670|RCV000829183; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:C3661900171400556314005563NC_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 benign199609301RCV000826286|RCV001124727|RCV001124726; NMedGen:CN517202|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50617140632441406324417:g.14063244G>T-
NM_001303.4(COX10):c.682C>T (p.Arg228Cys)1352COX10Conflicting interpretations of pathogenicity114521946RCV000124575|RCV000223992|RCV001124728|RCV001124729; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:25490517140632511406325117:g.14063251C>TClinGen:CA290480CN517202 not provided;
NM_001303.4(COX10):c.699A>G (p.Pro233=)1352COX10Benign2230354RCV000124560|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 significance777697759RCV001125726|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 significance1189180230RCV001125729|RCV001125728; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50617140954801409548017:g.14095480G>A-
NM_001303.4(COX10):c.909C>T (p.Ala303=)1352COX10Conflicting interpretations of pathogenicity370260574RCV000349796|RCV000398956|RCV001636907; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900171409551914095519NC_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>A1352COX10Benign200573622RCV000124563|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 benign144296730RCV000297390|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 pathogenicity62052075RCV000179820|RCV000265719|RCV000361435|RCV000676610; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:C366190017141101201411012017: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 pathogenicity146175179RCV000124565|RCV000302186|RCV000366250|RCV000513362; NMedGen:CN169374|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190017141101791411017917: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 significance200818252RCV000442977|RCV001333919|RCV002480280|RCV002524739; NMedGen:C3661900|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 benign2230355RCV000124566|RCV000271444|RCV000326474|RCV001518584; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:C366190017141102361411023617: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 significance745492359RCV000513659|RCV000764104|RCV002524962|RCV003105935; NMedGen:C3661900|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 significance757204220RCV001331897|RCV002546517|RCV003263968; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MeSH:D030342,MedGen:C095012317141102621411026214110262-
NM_001303.4(COX10):c.1096G>T (p.Val366Leu)1352COX10Conflicting interpretations of pathogenicity111541535RCV000124567|RCV000961080|RCV001127831|RCV001127832|RCV001802947; NMedGen:CN169374|MedGen:C3661900|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 significance749603596RCV001122052|RCV001122053|RCV001593283|RCV002497532; 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:61904617141103671411036717:g.14110367C>T-
NM_001303.4(COX10):c.1186G>A (p.Gly396Ser)1352COX10Uncertain significance142336139RCV001333920|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 significance368724576RCV001333921|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 pathogenicity113058506RCV000514768|RCV000603785|RCV001122054|RCV001122055; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:25490517141104891411048917:g.14110489C>TClinGen:CA8402598CN517202 not provided;
NM_001303.4(COX10):c.1305C>T (p.Gly435=)1352COX10Conflicting interpretations of pathogenicity199737206RCV001122056|RCV001122057|RCV002556626; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:C366190017141105031411050317:g.14110503C>T-
NM_001303.4(COX10):c.*13G>A1352COX10Uncertain significance371047487RCV000277182|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 significance200239586RCV000292276|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_*152del1352COX10Benign200239586RCV000332249|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 significance1906742963RCV001124823|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 significance886052602RCV000279241|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>A1352COX10Benign8076247RCV000334328|RCV000396612|RCV001597088; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:C3661900171411082714110827NC_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>G1352COX10Conflicting interpretations of pathogenicity143758001RCV001124826|RCV001124825|RCV003405332; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190017141108351411083517:g.14110835A>G-
NM_001303.4(COX10):c.*322T>C1352COX10Benign11078233RCV000285265|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>G1352COX10Benign11078234RCV000310611|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 significance886052603RCV000365321|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 benign75823746RCV000307272|RCV000371382|RCV001778907; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:C3661900171411096814110968NC_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 significance931361027RCV001127921|RCV001127922; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50617141110151411101517:g.14111015G>A-
NM_001303.4(COX10):c.*535C>A1352COX10Uncertain significance886052604RCV000276817|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 significance1906754704RCV001127923|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 significance886052605RCV000263806|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 significance886052606RCV000318962|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 significance886052607RCV000279032|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 significance886052607RCV001122160|RCV001122159; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:25490517141111581411115817:g.14111158C>T-
NM_001303.4(COX10):c.*646C>A1352COX10Benign7214082RCV000282929|RCV000379280|RCV001707652; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190017141111761411117617: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 pathogenicity7214082RCV000347246|RCV000395029|RCV001778908; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:C366190017141111761411117617: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 significance537449689RCV001122162|RCV001122161; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50617141111831411118317:g.14111183G>A-
NM_001303.4(COX10):c.*720G>A1352COX10Uncertain significance1174121283RCV001124931|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 significance886052608RCV000288864|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>C1352COX10Benign1802618RCV000313440|RCV000390456|RCV001709595; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:C366190017141112871411128717: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 significance886052609RCV000368052|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]1352COX10Benign397763766RCV000300799|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 significance974629254RCV001125907|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 significance573080780RCV001125909|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 pathogenicity75839697RCV001125912|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 benign2071245RCV000260745|RCV000316091|RCV001778909; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190017141115041411150417: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 significance1326135885RCV001128010|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 significance1906768949RCV001128012|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>C1352COX10Benign1050216RCV000266831|RCV000361388|RCV001613030; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:C366190017141116061411160617:g.14111606T>CClinGen:CA10649512C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.4(COX10):c.*1078C>T1352COX10Benign13183RCV000321981|RCV000376624|RCV001643004; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:C366190017141116081411160817: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 pathogenicity116445114RCV001122250|RCV001122251|RCV001779119; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190017141116091411160917:g.14111609G>A-
NM_001303.4(COX10):c.*1101C>T1352COX10Benign/Likely benign75165393RCV000271535|RCV000328872|RCV001675813; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:C366190017141116311411163117: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 significance151138383RCV001122253|RCV001122252; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50617141116781411167817:g.14111678G>A-
NM_001303.4(COX10):c.*1267A>G1352COX10Conflicting interpretations of pathogenicity75844637RCV001122255|RCV001122254|RCV001786437; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:C366190017141117971411179717:g.14111797A>G-
NM_001303.4(COX10):c.*1324C>T1352COX10Benign/Likely benign75636595RCV000288971|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 significance555512140RCV000350985|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 pathogenicity145948022RCV001125028|RCV001125029|RCV001836945; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190017141119131411191317:g.14111913G>A-
NM_001303.4(COX10):c.*1385C>T1352COX10Benign1050223RCV000292528|RCV000349607|RCV001541829; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900171411191514111915NC_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 significance574015313RCV000300582|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_078470.6(COX15):c.305G>A (p.Trp102Ter)1355COX15Pathogenic/Likely pathogenic778412019RCV001331215|RCV002307728; NMONDO:MONDO:0014051,MedGen:C3554534,OMIM:615119, Orphanet:1561|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101487288101487288101487288-
NM_078470.6(COX15):c.452C>G (p.Ser151Ter)1355COX15Pathogenic149718203RCV000033254|RCV000586150|RCV000599531|RCV002252173; NMONDO:MONDO:0014051,MedGen:C3554534,OMIM:615119, Orphanet:1561|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|1010148685510148685510:g.101486855G>CClinGen:CA5642259,OMIM:603646.0003C0023264 256000 Leigh syndrome;
NM_078470.6(COX15):c.79_90+3delinsGACT1355COX15Likely pathogenic-1RCV002282872; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101491714101491728101491714-
NM_020354.5(ENTPD7):c.*4258A>G1355COX15Likely benign10490941RCV000371158; 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 significance886046594RCV000398596; 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 significance74152722RCV000356005; 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 significance764641759RCV000263601; 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 benign138423739RCV000316200; 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 significance1381915856RCV001105330; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146895910146895910:g.101468959C>T-
NM_020354.5(ENTPD7):c.*4550G>T1355COX15Uncertain significance1009446425RCV001105331; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146899010146899010:g.101468990G>T-
NM_020354.5(ENTPD7):c.*4579G>A1355COX15Uncertain significance886046595RCV000354673; 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 significance56206689RCV000267088; 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.*4914T>C1355COX15Uncertain significance76530337RCV000324540; 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 significance576990987RCV001106459; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146937110146937110:g.101469371G>T-
NM_020354.5(ENTPD7):c.*4976C>T1355COX15Uncertain significance886046596RCV000377611; 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 significance886046597RCV000271422; 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 benign73345141RCV000328704; 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 significance1033966106RCV001106460; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146951910146951910:g.101469519T>C-
NM_020354.5(ENTPD7):c.*5113T>C1355COX15Uncertain significance76656125RCV001106461; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146955310146955310:g.101469553T>C-
NM_020354.5(ENTPD7):c.*5165G>A1355COX15Benign2300983RCV000289074; 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 significance12241912RCV001108654; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146960710146960710:g.101469607G>A-
NM_020354.5(ENTPD7):c.*5261C>G1355COX15Uncertain significance988381164RCV001108655; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146970110146970110:g.101469701C>G-
NM_020354.5(ENTPD7):c.*5320C>G1355COX15Uncertain significance914156906RCV001108656; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146976010146976010:g.101469760C>G-
NM_020354.5(ENTPD7):c.*5401T>C1355COX15Uncertain significance769776249RCV000350997; 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>G1355COX15Benign1056844RCV000389345; 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 significance548503022RCV001108657; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010146996010146996010:g.101469960C>T-
NM_020354.5(ENTPD7):c.*5521G>A1355COX15Uncertain significance886046598RCV000292710; 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 significance1000984RCV000349429; 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 significance11190252RCV000397123; 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 significance886046599RCV000300873; 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 significance188328622RCV000334736; 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 significance114201692RCV001103499; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147047010147047010:g.101470470G>A-
NM_020354.5(ENTPD7):c.*6091A>C1355COX15Likely benign80332976RCV000390482; 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 significance886046600RCV000304295; 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 significance2036362442RCV001103500; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147070610147070610:g.101470706G>A-
NM_078470.6(COX15):c.*3417T>C1355COX15Benign10883407RCV000303474; 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 significance1296504635RCV001105413; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147098210147098210:g.101470982A>G-
NM_078470.6(COX15):c.*3247T>C1355COX15Uncertain significance74775778RCV000365134; 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 significance984578663RCV001105414; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147138510147138510:g.101471385C>G-
NM_078470.6(COX15):c.*2898A>G1355COX15Uncertain significance886046601RCV000273011; 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 significance576268362RCV000325749; 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 significance895123603RCV001105415; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147149410147149410:g.101471494T>C-
NM_078470.6(COX15):c.*2839G>T1355COX15Uncertain significance1025606598RCV001105416; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147150510147150510:g.101471505C>A-
NM_078470.6(COX15):c.*2745T>G1355COX15Uncertain significance952880831RCV001106560; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147159910147159910:g.101471599A>C-
NM_078470.6(COX15):c.*2701A>G1355COX15Uncertain significance886046602RCV000276513; 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 significance886046603RCV000333899; 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>A1355COX15Benign1128642RCV000386007; 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 significance1327045732RCV001106561; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147172410147172410:g.101471724G>A-
NM_078470.6(COX15):c.*2595C>T1355COX15Uncertain significance574033399RCV001106562; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147174910147174910:g.101471749G>A-
NM_078470.6(COX15):c.*2594T>G1355COX15Uncertain significance1470572029RCV001106563; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147175010147175010:g.101471750A>C-
NM_078470.6(COX15):c.*2490T>C1355COX15Uncertain significance886046604RCV000294256; 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 significance886046605RCV000337594; 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 significance79573437RCV001108736; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147204310147204310:g.101472043C>G-
NM_078470.6(COX15):c.*2301G>A1355COX15Uncertain significance79573437RCV001108737; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147204310147204310:g.101472043C>T-
NM_078470.6(COX15):c.*2282G>A1355COX15Uncertain significance762075313RCV000375739; 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 significance557527426RCV000278990; 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 significance1487355609RCV001108738; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147217710147217710:g.101472177T>C-
NM_078470.6(COX15):c.*2060C>T1355COX15Uncertain significance886046606RCV000336530; 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 significance2036431642RCV001108739; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147238710147238710:g.101472387T>G-
NM_078470.6(COX15):c.*1876A>G1355COX15Likely benign115287270RCV001103578; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147246810147246810:g.101472468T>C-
NM_078470.6(COX15):c.*1851G>T1355COX15Uncertain significance754063121RCV000394010; 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 significance755134012RCV000306176; 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 significance574149332RCV000340075; 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 significance145963002RCV000394009; 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 significance186244558RCV000307331; 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 benign74981084RCV000366663; 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 significance886046607RCV000272094; 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 significance190369277RCV001105513; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147275310147275310:g.101472753G>A-
NM_078470.6(COX15):c.*1590A>C1355COX15Uncertain significance181768654RCV001105514; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147275410147275410:g.101472754T>G-
NM_078470.6(COX15):c.*1474C>T1355COX15Uncertain significance886046608RCV000313072; 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 significance750145039RCV001105515; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147298210147298210:g.101472982C>T-
NM_078470.6(COX15):c.*1361C>T1355COX15Uncertain significance886046610RCV000277894; 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 significance779762294RCV001105516; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147299510147299510:g.101472995T>G-
NM_078470.6(COX15):c.*1309T>C1355COX15Uncertain significance556850599RCV000332883; 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 significance2036459883RCV001105517; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147310210147310210:g.101473102T>C-
NM_078470.6(COX15):c.*1197T>C1355COX15Likely benign149696723RCV000354834|RCV001582923; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C36619001010147314710147314710:g.101473147A>GClinGen:CA5642027C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_078470.6(COX15):c.*1126T>C1355COX15Benign2231687RCV000116814|RCV000259999|RCV000676871; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C36619001010147321810147321810: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 significance142892403RCV000319874|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 significance757725009RCV000374551; 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 significance745556177RCV000284765; 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 pathogenicity542092025RCV000124578|RCV000426006|RCV001106672; NMedGen:CN169374|MedGen:C3661900|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 pathogenicity138293000RCV000195853|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 significance201703572RCV001108825; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010147824910147824910:g.101478249C>T-
NM_078470.6(COX15):c.832+9C>T1355COX15Uncertain significance777349150RCV001108826; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010148073510148073510:g.101480735G>A-
NM_078470.6(COX15):c.784C>T (p.Arg262Ter)1355COX15Conflicting interpretations of pathogenicity774366079RCV000778265|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 significance886046611RCV000380272; 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 significance377568460RCV001108827|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 pathogenicity2231682RCV000898890|RCV001108828; NMedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010148379910148379910:g.101483799G>A-
NM_078470.6(COX15):c.582+14A>G1355COX15Conflicting interpretations of pathogenicity79410539RCV000285899|RCV000443501|RCV001523675; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374|MedGen:C366190010101486711101486711NC_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 benign35483721RCV000124581|RCV000947276|RCV001001608|RCV001108829; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014051,MedGen:C3554534,OMIM:615119, Orphanet:1561|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 significance2036978379RCV001108830; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010148681210148681210:g.101486812C>A-
NM_078470.6(COX15):c.490A>G (p.Ile164Val)1355COX15Uncertain significance749525116RCV001784122; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101486817101486817101486817-
NM_078470.6(COX15):c.406G>C (p.Asp136His)1355COX15Uncertain significance766429756RCV000345111|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 pathogenicity200910834RCV000006553|RCV000266470|RCV002469094; NMONDO:MONDO:0014051,MedGen:C3554534,OMIM:615119, Orphanet:1561|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010148691410148691410:g.101486914G>CClinGen:CA5642274,OMIM:603646.0002CN517202 not provided;
NM_078470.6(COX15):c.293C>T (p.Ser98Leu)1355COX15Uncertain significance1315877896RCV001103673; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010148730010148730010:g.101487300G>A-
NM_078470.6(COX15):c.255T>C (p.Ile85=)1355COX15Conflicting interpretations of pathogenicity147881961RCV000396573|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 pathogenicity777532861RCV000197287|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 significance781108007RCV000346270|RCV003372684; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MeSH:D030342,MedGen:C095012310101489421101489421NC_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 significance141506146RCV000398229|RCV001859775|RCV002522137|RCV002504048; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014051,MedGen:C3554534,OMIM:615119, Orphanet:156110101489451101489451NC_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.84A>G (p.Arg28=)1355COX15Conflicting interpretations of pathogenicity370595065RCV001103674|RCV002555014; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN5172021010149172310149172310:g.101491723T>C-
NM_078470.6(COX15):c.-23G>T1355COX15Conflicting interpretations of pathogenicity2231678RCV000124576|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 significance2231677RCV000370770; 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 significance886046612RCV000399762; 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 significance574143521RCV000298560|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 significance539821050RCV000353428; 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 significance566424487RCV000263213; 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 significance560024737RCV001105627; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010149194810149194810:g.101491948T>G-
NM_004376.6(COX15):c.-149G>T1355COX15Uncertain significance139698647RCV001105628; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010149195510149195510:g.101491955C>A-
NM_015960.3(CUTC):c.-68G>A1355COX15Uncertain significance886046613RCV000318410; 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 significance985074355RCV001106764; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010149205610149205610:g.101492056C>G-
NM_015960.3(CUTC):c.-35A>C1355COX15Uncertain significance373242921RCV001106765; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010149207110149207110:g.101492071A>C-
NM_015960.3(CUTC):c.8G>C (p.Arg3Thr)1355COX15Uncertain significance886046614RCV000359052; 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=)1355COX15Uncertain significance751586131RCV000264245; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50610101492144101492144ClinGen:CA5642434C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_015960.3(CUTC):c.61+46G>C1355COX15Uncertain significance11595470RCV000378719; 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>A1355COX15Benign2231675RCV000288170|RCV001653465; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190010101492241101492241NC_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 significance550813748RCV000329155; 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 significance186438310RCV001107398; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010149239210149239210:g.101492392G>A-
NM_015960.3(CUTC):c.61+230C>T1355COX15Uncertain significance191339901RCV001107399; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061010149239610149239610:g.101492396C>T-
NM_015960.3(CUTC):c.61+237T>G1355COX15Benign2281636RCV000383808|RCV001612936; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190010101492403101492403NC_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 significance886046616RCV000293898; 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_020354.5(ENTPD7):c.*4789T>C-1COX15;ENTPD7Conflicting interpretations of pathogenicity148302095RCV001105332|RCV003222223; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C36619001010146922910146922910:g.101469229T>C-
NM_000108.5(DLD):c.-10C>T1738DLDUncertain significance1269120569RCV001160118|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 significance372155330RCV000309229|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 pathogenicity779166996RCV001163466|RCV001163465|RCV001163467; 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:50671075317251075317257:g.107531725C>A-
NM_000108.5(DLD):c.34G>A (p.Ala12Thr)1738DLDBenign/Likely benign75077312RCV000124698|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:C3661900|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 significance144038427RCV001163784|RCV000701637|RCV001163783|RCV001561816; 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:C366190071075336601075336607:g.107533660C>G-CN043137 246900 Maple syrup urine disease, type 3;
NM_000108.5(DLD):c.74A>C (p.Gln25Pro)1738DLDUncertain significance61749951RCV000266066|RCV000321362|RCV000360727|RCV003168554; 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|MeSH:D030342,MedGen:C09501237107533679107533679NC_000007.13:g.107533679A>CClinGen:CA4434344C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)1738DLDUncertain significance138002793RCV000281549|RCV000367820|RCV000317845|RCV000376021|RCV000487629; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MedGen:C366190071075337051075337057:g.107533705A>GClinGen:CA312448C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.116C>T (p.Pro39Leu)1738DLDUncertain significance766396602RCV000295703|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 significance751621846RCV000293134|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 significance967089304RCV001160215|RCV001160213|RCV001160214; 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:50671075427971075427977:g.107542797C>T-
NM_000108.5(DLD):c.249T>C (p.Val83=)1738DLDBenign2228664RCV000124687|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:C3661900|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 significance886061906RCV000304750|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 pathogenicity138398782RCV000898845|RCV001160216|RCV001163571|RCV001703709; 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:C366190071075439761075439767:g.107543976A>GClinGen:CA4434418CN169374 not specified;
NM_000108.5(DLD):c.375G>A (p.Glu125=)1738DLDConflicting interpretations of pathogenicity559057715RCV000928867|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 benign10263341RCV000179713|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:C366190071075457991075457997:g.107545799T>CClinGen:CA303052C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.507C>T (p.Gly169=)1738DLDBenign/Likely benign144351432RCV000973950|RCV001163900|RCV001163901|RCV001529364; 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:C366190071075458741075458747:g.107545874C>TClinGen:CA4434486CN169374 not specified;
NM_000108.5(DLD):c.520A>G (p.Ile174Val)1738DLDUncertain significance2031981415RCV001158971|RCV001163902|RCV001163903; 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:50671075458871075458877:g.107545887A>G-
NM_000108.5(DLD):c.543A>T (p.Ile181=)1738DLDConflicting interpretations of pathogenicity61749952RCV000179714|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:C3661900|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 significance750449027RCV000274781|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>A1738DLDBenign75123588RCV000124691|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:C366190071075468201075468207:g.107546820G>AClinGen:CA290606C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.685-14T>A1738DLDBenign80111449RCV000124692|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 pathogenicity533405046RCV000185855|RCV000298315|RCV000408335|RCV001086796; NMedGen:C3661900|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=)1738DLDBenign1065762RCV000124693|RCV000676802|RCV001081205|RCV001161964|RCV001161963; NMedGen:CN169374|MedGen:C3661900|MONDO: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:7924371075560431075560437:g.107556043A>GClinGen:CA290608CN043137 246900 Maple syrup urine disease, type 3;
NM_000108.5(DLD):c.788G>A (p.Arg263His)1738DLDConflicting interpretations of pathogenicity145670503RCV000653827|RCV000676803|RCV001161965|RCV001161966; NMONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:765|MedGen:C3661900|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 significance202125745RCV000277653|RCV000313980|RCV000353225|RCV003243113; 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|MeSH:D030342,MedGen:C09501237107556126107556126NC_000007.13:g.107556126G>AClinGen:CA4434567C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln)1738DLDUncertain significance886061907RCV000274169|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 significance2032312825RCV001163988|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=)1738DLDBenign1803921RCV000124695|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:C366190071075584831075584837:g.107558483C>TClinGen:CA290611C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.1422A>C (p.Gly474=)1738DLDBenign/Likely benign34453495RCV000124696|RCV000676805|RCV001000277|RCV001159068|RCV001159069; NMedGen:CN169374|MedGen:C3661900|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 pathogenicity886061908RCV000286136|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 pathogenicity766286119RCV000282664|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>T1738DLDBenign8721RCV000124697|RCV000279168|RCV000350587|RCV000590748|RCV000616747; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243|MedGen:C3661900|MONDO:MONDO:0009529,MedGen:CN043137,OMIM:246900, Orphanet:2394, Orphanet:76571075597221075597227:g.107559722A>TClinGen:CA290615C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*28G>T1738DLDBenign17154615RCV000313165|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 significance886061909RCV000307241|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>A1738DLDBenign4564RCV000267242|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 significance553824101RCV000265942|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 significance886061910RCV000278861|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 significance576270082RCV001159163|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 significance1246423607RCV001159166|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 pathogenicity111619940RCV000296036|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 benign111619940RCV001160519|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:C366190071075601741075601747:g.107560174G>T-
NM_000108.5(DLD):c.*474T>C1738DLDBenign/Likely benign16872391RCV001160524|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:C366190071075601781075601787:g.107560178T>C-
NM_000108.5(DLD):c.*487C>T1738DLDBenign4518RCV000290158|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:C366190071075601911075601917:g.107560191C>TClinGen:CA10622971C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*498T>G1738DLDUncertain significance886061911RCV000307920|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 benign57801571RCV000262043|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:C366190071075603521075603527:g.107560352G>AClinGen:CA10625089C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*739G>A1738DLDUncertain significance181103944RCV001164167|RCV001164168|RCV001164166; 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:7924371075604431075604437:g.107560443G>A-
NM_000108.5(DLD):c.*845G>A1738DLDUncertain significance750426584RCV001159268|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>T1738DLDBenign116055514RCV000260770|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 benign16872396RCV001159270|RCV001159269|RCV001159271; 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:76571075605911075605917:g.107560591T>C-
NM_000108.5(DLD):c.*898C>T1738DLDUncertain significance2032373871RCV001159272|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>T1738DLDBenign7777259RCV000275277|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>C1738DLDBenign2158835RCV000288290|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 significance372098056RCV001162242|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>G1738DLDBenign149275540RCV001162245|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 significance886061912RCV000287023|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 significance546777301RCV000300180|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 significance143750422RCV001159358|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 significance2032385167RCV001159362|RCV001159360|RCV001159361; 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:76571075609351075609357:g.107560935A>G-
NM_000108.5(DLD):c.*1300A>G1738DLDBenign77095705RCV001159363|RCV001159365|RCV001159364; 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:76571075610041075610047:g.107561004A>G-
NM_000108.5(DLD):c.*1307C>T1738DLDUncertain significance568807016RCV000299103|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 significance1266926415RCV001160728|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 significance568479120RCV001160731|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>C1738DLDBenign2108223RCV000276849|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:C36619007107561155107561155NC_000007.13:g.107561155T>CClinGen:CA10622982C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*1505C>T1738DLDUncertain significance1053262850RCV001162344|RCV001164386|RCV001164387; 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:7924371075612091075612097:g.107561209C>T-
NM_000108.5(DLD):c.*1640A>G1738DLDConflicting interpretations of pathogenicity148148357RCV001164388|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>A1738DLDBenign8440RCV000272023|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:C36619007107561392107561392NC_000007.13:g.107561392G>AClinGen:CA10622983C0023264 256000 Leigh syndrome;
NM_000108.5(DLD):c.*1724C>G1738DLDUncertain significance886061913RCV000270720|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 pathogenicity190655078RCV000283475|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 significance760145994RCV000282155|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 significance774099916RCV000313976|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 pathogenicity142001971RCV001160821|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 significance182010485RCV000308860|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_002291.3(LAMB1):c.5225-7C>T-1DLD;LAMB1Benign3213673RCV000276408|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:C3671075645391075645397:g.107564539G>AClinGen:CA4434790C0023264 256000 Leigh syndrome;
NM_004092.4(ECHS1):c.2T>G (p.Met1Arg)1892ECHS1Pathogenic/Likely pathogenic587776497RCV000144496|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_004092.4(ECHS1):c.5C>T (p.Ala2Val)1892ECHS1Pathogenic587776498RCV000144497|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_174889.4(NDUFAF2):c.-97A>G-1ERCC8;NDUFAF2Benign158922RCV000297972|RCV000337453|RCV000401969|RCV000830751; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0016006,MedGen:C0009207, Orphanet:191|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MedGen:C366190056024098660240986NC_000005.9:g.60240986A>GClinGen:CA10620686C0009207 Cockayne syndrome;
NM_174889.4(NDUFAF2):c.-91C>T-1ERCC8;NDUFAF2Benign/Likely benign4647036RCV000262719|RCV000355199|RCV000373301|RCV001653699; NMONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0016006,MedGen:C0009207, Orphanet:191|MedGen:C366190056024099260240992NC_000005.9:g.60240992C>TClinGen:CA10624859C0009207 Cockayne syndrome;
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu)-1ERCC8;NDUFAF2Uncertain significance886060726RCV000326140|RCV000383048|RCV000668467; NMONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0019569,MedGen:C0751039,OMIM:216400, Orphanet:191, Orphanet:9032156024110060241100NC_000005.9:g.60241100T>GClinGen:CA10624863C0751039 216400 Cockayne syndrome type A;
NM_001136193.2(FASTKD2):c.810_820dup (p.Ser274fs)22868FASTKD2Pathogenic1574663066RCV000984084|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)22868FASTKD2Pathogenic778120270RCV000984085|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)22868FASTKD2Pathogenic1574675683RCV000984083|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 pathogenic2128375658RCV002266444; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5066993234499932344999323448-
NM_001278716.2(FBXL4):c.1435_1440delinsGAAAAAT (p.Lys479fs)26235FBXL4Likely pathogenic-1RCV003226795; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50669932355399323558-
NM_001278716.2(FBXL4):c.1435_1439delinsG (p.Lys479fs)26235FBXL4Likely pathogenic-1RCV003226794; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50669932355499323558-
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.608_609del (p.Glu203fs)55572FOXRED1Pathogenic1189650128RCV001249212; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061112614489112614489211:g.126144891_126144892del-
NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter)55572FOXRED1Pathogenic267606829RCV000000015|RCV000578659|RCV001194045|RCV003390625; NMONDO:MONDO:0032624,MedGen:C4748791,OMIM:618241|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|1112614528412614528411:g.126145284C>TClinGen:CA113792,OMIM:613622.0001C1838979 252010 Mitochondrial complex I deficiency;
NM_017547.4(FOXRED1):c.265C>T (p.Arg89Ter)55572FOXRED1Likely pathogenic-1RCV003226822; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611126141511126141511-
NM_017547.4(FOXRED1):c.734-1G>C55572FOXRED1Likely pathogenic1296948086RCV001334927; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50611126145688126145688126145688-
NM_017547.4(FOXRED1):c.20C>T (p.Pro7Leu)55572FOXRED1Uncertain significance141392346RCV001334926|RCV002546707; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN51720211126139121126139121126139121-
NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser)55572FOXRED1Uncertain significance1555065162RCV000662160|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.612_615dup (p.Ala206fs)55572FOXRED1Conflicting interpretations of pathogenicity398124308RCV000081797|RCV000190588|RCV000586362|RCV000778312|RCV001197098|RCV002513837; NMedGen:C3661900|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.754C>T (p.Arg252Cys)55572FOXRED1Conflicting interpretations of pathogenicity146661281RCV000514034|RCV000763713; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MONDO:MONDO:0100224,MedGen:CN257533,OMIM:2520101112614570912614570911:g.126145709C>TClinGen:CA6354204CN517202 not provided;
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val)55572FOXRED1Conflicting interpretations of pathogenicity138061928RCV000199891|RCV000763714|RCV001107765; NMedGen:C3661900|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 significance201727988RCV000196209|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 significance770063137RCV000518955|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_000156.6(GAMT):c.*311C>G-1GAMT;NDUFS7Benign/Likely benign266811RCV000282642|RCV000314996|RCV000374817|RCV001653594; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736, Orphanet:382|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MedGen:C3661900191397047139704719:g.1397047G>CClinGen:CA10652266C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_000156.6(GAMT):c.*276C>T-1GAMT;NDUFS7Benign/Likely benign266810RCV000340079|RCV000369560|RCV000397956|RCV001709600; NMONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736, Orphanet:382|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900191397082139708219:g.1397082G>AClinGen:CA10648346C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_000156.6(GAMT):c.*151T>C-1GAMT;NDUFS7Benign/Likely benign659460RCV000304781|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:C3661900191397207139720719:g.1397207A>GClinGen:CA10652268C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_000156.6(GAMT):c.*146A>C-1GAMT;NDUFS7Benign/Likely benign659455RCV000308431|RCV000310942|RCV000399238|RCV001594960; NMONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736, Orphanet:382|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900191397212139721219:g.1397212T>GClinGen:CA10652269C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_000156.6(GAMT):c.626C>T (p.Thr209Met)-1GAMT;NDUFS7Benign17851582RCV000020144|RCV000117117|RCV000311501|RCV000272863|RCV000676877|RCV001520666|RCV002311515; NMONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736, Orphanet:382|MedGen:CN169374|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900|MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352191397443139744319:g.1397443G>AClinGen:CA288884,UniProtKB:Q14353#VAR_025723C0574080 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_013247.5(HTRA2):c.1037A>T (p.Glu346Val)27429HTRA2Uncertain significance-1RCV003330493; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50627475882174758821-
NM_013247.5(HTRA2):c.1172T>A (p.Val391Glu)27429HTRA2Uncertain significance-1RCV003330494; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50627475980274759802-
NM_018060.4(IARS2):c.547_550del (p.Lys183fs)55699IARS2Pathogenic/Likely pathogenic-1RCV003110149|RCV003456570; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C36619001220273982220273985NC_000001.10:g.220273984AAAG[1]-
NM_018060.4(IARS2):c.1821G>A (p.Trp607Ter)55699IARS2Uncertain significance373436822RCV000144716|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 benign143722284RCV000144956|RCV000144717|RCV000601238|RCV000986556; NMedGen:C3661900|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 significance1409898715RCV001876589|RCV003107865; NMedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5061220316394220316394220316394-
NM_133259.4(LRPPRC):c.*2048dup10128LRPPRCUncertain significance546907287RCV000308061; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506244113690441136912:g.44113690_44113691insCClinGen:CA10613380C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1449_*1456dup10128LRPPRCUncertain significance57494476RCV000264271; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506244114282441142832:g.44114282_44114283insAAAAAAAAClinGen:CA10615501C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1445_*1456dup10128LRPPRCUncertain significance57494476RCV000303246; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50624411428244114283NC_000002.11:g.44114292_44114303dupClinGen:CA10615518C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1435del10128LRPPRCUncertain significance886056047RCV000360363; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:50624411430444114304NC_000002.11:g.44114304delClinGen:CA10613403C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1387_*1390dup10128LRPPRCUncertain significance886056048RCV000268045; 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 significance750526576RCV001270836; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506244174419441744192:g.44174419T>C-
NM_133259.4(LRPPRC):c.1921-7A>G10128LRPPRCUncertain significance779696239RCV001270837; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506244174921441749212:g.44174921T>C-
NM_133259.4(LRPPRC):c.1677+7C>T10128LRPPRCConflicting interpretations of pathogenicity374995996RCV000321679|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 pathogenicity747766605RCV000405246|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 significance908473003RCV002273071; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:5062442229664422296644222966-
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr)10128LRPPRCConflicting interpretations of pathogenicity200686732RCV000901776|RCV000986628|RCV001137778|RCV002517228; NMedGen:C3661900|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>A10128LRPPRCBenign11124961RCV000349366|RCV001643032; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C366190024422313144223131NC_000002.11:g.44223131C>TClinGen:CA1639491C0023264 256000 Leigh syndrome;
NM_017446.4(MRPL39):c.921+5G>A54148MRPL39Pathogenic/Likely pathogenic-1RCV002286587|RCV003445147; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN375857,OMIM:62064621269651192696511926965119OMIM:611845.0002
NM_017446.4(MRPL39):c.589-924G>A54148MRPL39Likely pathogenic1209423257RCV002286589|RCV003445149; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN375857,OMIM:62064621269706502697065026970650OMIM:611845.0001
NM_017446.4(MRPL39):c.526del (p.Ser176fs)54148MRPL39Likely pathogenic-1RCV002286588|RCV003445148; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN375857,OMIM:62064621269721732697217326972172OMIM:611845.0003
NM_023936.1(MRPS34):c.321+1G>T65993MRPS34Pathogenic1161932777RCV000505529|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 pathogenic1131692037RCV000494696|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(MT-ATP6):m.8783G>A4508MT-ATP6Pathogenic/Likely pathogenic1603221804RCV000854322|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:m.8839G>C4508MT-ATP6Pathogenic1556423547RCV000144024|RCV000495688; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M88398839M:g.8839G>CClinGen:CA345921C0023264 256000 Leigh syndrome;
NC_012920.1:m.8993T>C4508MT-ATP6Pathogenic199476133RCV000010276|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,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0027069,MedGen:C3275684,OMIM:500015|MONDO:MONDO:0010794,MedGen:C1328M89938993M:g.8993T>CClinGen:CA120596,OMIM:516060.0002C1838916 500010 Ataxia and polyneuropathy, adult-onset;
NC_012920.1:m.9176T>C4508MT-ATP6Pathogenic199476135RCV000010278|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:C3661900|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.9185T>C4508MT-ATP6Pathogenic199476138RCV000010282|RCV000240612|RCV000495689|RCV000754648|RCV001267926|RCV001542709|RCV002267606|RCV003224857; YMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0027069,MedGen:C3275684,OMIM:500015|MedGen:C3661900|HM91859185M:g.9185T>CClinGen:CA340928,OMIM:516060.0008C0007959 Charcot-Marie-Tooth disease;
NC_012920.1(MT-ATP6):m.9035T>C4508MT-ATP6Likely pathogenic1603222000RCV000851177|RCV000854406|RCV001196557|RCV002260672|RCV002249546|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||MONDO:MONDO:0044970,MeSH:D02836M90359035M:g.9035T>C-
NC_012920.1(MT-ATP6):m.9049G>A4508MT-ATP6Likely pathogenic1603222011RCV000854410|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.9134A>G4508MT-ATP6Likely pathogenic1603222119RCV000854453; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91349134M:g.9134A>G-
NC_012920.1(MT-ATP6):m.9155A>G4508MT-ATP6Likely pathogenic-1RCV002537703|RCV002291223; YMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M915591559155-
NC_012920.1:m.9176T>G4508MT-ATP6Likely pathogenic199476135RCV000010285|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:C366M91769176M:g.9176T>GClinGen:CA340929,OMIM:516060.0011C0023264 256000 Leigh syndrome;
NC_012920.1:m.9191T>C4508MT-ATP6Likely pathogenic1556423632RCV000144006|RCV002221481; YMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M91919191m.9191T>CClinGen:CA345914C0023264 256000 Leigh syndrome;
NC_012920.1:m.8557G>A4508MT-ATP6Benign386829040RCV000854235|RCV002221592; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M85578557M:g.8557G>A-
NC_012920.1(MT-ATP6):m.8573G>A4508MT-ATP6Benign1603221592RCV000854243; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85738573M:g.8573G>A-
NC_012920.1(MT-ATP6):m.8576T>C4508MT-ATP6Uncertain significance1603221596RCV000854244; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85768576M:g.8576T>C-
NC_012920.1(MT-ATP6):m.8578C>T4508MT-ATP6Benign1556423492RCV000854245; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85788578M:g.8578C>T-
NC_012920.1(MT-ATP6):m.8581G>A4508MT-ATP6Benign1603221602RCV000854246; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85818581M:g.8581G>A-
NC_012920.1(MT-ATP6):m.8582C>T4508MT-ATP6Benign1556423493RCV000854247; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85828582M:g.8582C>T-
NC_012920.1(MT-ATP6):m.8584G>A4508MT-ATP6Benign3135028RCV000854248; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85848584M:g.8584G>A-
NC_012920.1(MT-ATP6):m.8588T>C4508MT-ATP6Benign1603221606RCV000854249; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85888588M:g.8588T>C-
NC_012920.1(MT-ATP6):m.8591T>C4508MT-ATP6Uncertain significance1603221609RCV000854250; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85918591M:g.8591T>C-
NC_012920.1(MT-ATP6):m.8593A>G4508MT-ATP6Uncertain significance1603221612RCV000854251; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85938593M:g.8593A>G-
NC_012920.1(MT-ATP6):m.8596A>G4508MT-ATP6Likely benign1603221617RCV000854252; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85968596M:g.8596A>G-
NC_012920.1(MT-ATP6):m.8597T>C4508MT-ATP6Likely benign1603221620RCV000854253; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85978597M:g.8597T>C-
NC_012920.1(MT-ATP6):m.8599C>A4508MT-ATP6Uncertain significance1603221623RCV000854254; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85998599M:g.8599C>A-
NC_012920.1(MT-ATP6):m.8602T>C4508MT-ATP6Benign1556423501RCV000854255; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86028602M:g.8602T>C-
NC_012920.1(MT-ATP6):m.8603T>C4508MT-ATP6Benign1603221627RCV000854256; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86038603M:g.8603T>C-
NC_012920.1(MT-ATP6):m.8605C>T4508MT-ATP6Uncertain significance1603221630RCV000854257; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86058605M:g.8605C>T-
NC_012920.1(MT-ATP6):m.8609C>T4508MT-ATP6Uncertain significance1603221634RCV000854258; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86098609M:g.8609C>T-
NC_012920.1(MT-ATP6):m.8612T>C4508MT-ATP6Uncertain significance1603221635RCV000854259; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86128612M:g.8612T>C-
NC_012920.1(MT-ATP6):m.8615T>C4508MT-ATP6Uncertain significance1603221637RCV000854260; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86158615M:g.8615T>C-
NC_012920.1(MT-ATP6):m.8616G>T4508MT-ATP6Benign/Likely benign41427749RCV000224510|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 benign1603221641RCV000854262; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86178617M:g.8617A>G-
NC_012920.1(MT-ATP6):m.8618T>C4508MT-ATP6Benign28358885RCV000854263; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86188618M:g.8618T>C-
NC_012920.1(MT-ATP6):m.8623A>C4508MT-ATP6Uncertain significance1603221645RCV000854264; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86238623M:g.8623A>C-
NC_012920.1(MT-ATP6):m.8623A>G4508MT-ATP6Likely benign1603221645RCV000854265; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86238623M:g.8623A>G-
NC_012920.1(MT-ATP6):m.8623A>T4508MT-ATP6Uncertain significance1603221645RCV000854266; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86238623M:g.8623A>T-
NC_012920.1(MT-ATP6):m.8624C>T4508MT-ATP6Likely benign1603221647RCV000854267; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86248624M:g.8624C>T-
NC_012920.1(MT-ATP6):m.8626T>C4508MT-ATP6Likely benign1603221648RCV000854268; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86268626M:g.8626T>C-
NC_012920.1(MT-ATP6):m.8632T>C4508MT-ATP6Benign1603221654RCV000854269; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86328632M:g.8632T>C-
NC_012920.1(MT-ATP6):m.8635C>T4508MT-ATP6Likely benign1603221661RCV000854270; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86358635M:g.8635C>T-
NC_012920.1(MT-ATP6):m.8638A>G4508MT-ATP6Likely benign1556423508RCV000854271; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86388638M:g.8638A>G-
NC_012920.1(MT-ATP6):m.8639T>C4508MT-ATP6Benign200047468RCV000854272; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86398639M:g.8639T>C-
NC_012920.1(MT-ATP6):m.8641A>G4508MT-ATP6Uncertain significance1603221662RCV000854273; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86418641M:g.8641A>G-
NC_012920.1(MT-ATP6):m.8642A>C4508MT-ATP6Uncertain significance1603221663RCV000854275; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86428642M:g.8642A>C-
NC_012920.1(MT-ATP6):m.8642A>G4508MT-ATP6Benign1603221663RCV000854274; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86428642M:g.8642A>G-
NC_012920.1(MT-ATP6):m.8648G>A4508MT-ATP6Likely benign28479867RCV000854276; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86488648M:g.8648G>A-
NC_012920.1:m.8651T>C4508MT-ATP6Uncertain significance1556423512RCV000509112|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-ATP6Benign1603221669RCV000854278; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86538653M:g.8653A>G-
NC_012920.1(MT-ATP6):m.8654T>C4508MT-ATP6Benign200811540RCV000854279; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86548654M:g.8654T>C-
NC_012920.1(MT-ATP6):m.8656A>G4508MT-ATP6Likely benign1603221673RCV000854280; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86568656M:g.8656A>G-
NC_012920.1(MT-ATP6):m.8657C>T4508MT-ATP6Likely benign1603221675RCV000854281; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86578657M:g.8657C>T-
NC_012920.1(MT-ATP6):m.8659A>G4508MT-ATP6Benign879150284RCV000854282; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86598659M:g.8659A>G-
NC_012920.1(MT-ATP6):m.8666A>G4508MT-ATP6Likely benign1603221681RCV000854283; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86668666M:g.8666A>G-
NC_012920.1(MT-ATP6):m.8668T>C4508MT-ATP6Benign1603221688RCV000854284; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86688668M:g.8668T>C-
NC_012920.1(MT-ATP6):m.8679A>C4508MT-ATP6Likely benign386829045RCV000854285; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86798679M:g.8679A>C-
NC_012920.1(MT-ATP6):m.8681T>C4508MT-ATP6Benign1603221696RCV000854286; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86818681M:g.8681T>C-
NC_012920.1(MT-ATP6):m.8683A>G4508MT-ATP6Benign1603221698RCV000854287; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86838683M:g.8683A>G-
NC_012920.1(MT-ATP6):m.8684C>T4508MT-ATP6Benign201336180RCV000854288; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86848684M:g.8684C>T-
NC_012920.1(MT-ATP6):m.8697G>T4508MT-ATP6Uncertain significance879233543RCV000854290; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86978697M:g.8697G>T-
NC_012920.1(MT-ATP6):m.8699T>C4508MT-ATP6Uncertain significance1603221710RCV000854291; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M86998699M:g.8699T>C-
NC_012920.1(MT-ATP6):m.8700A>T4508MT-ATP6Uncertain significance1603221711RCV000854292; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87008700M:g.8700A>T-
NC_012920.1(MT-ATP6):m.8701A>G4508MT-ATP6Benign2000975RCV000854293; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87018701M:g.8701A>G-
NC_012920.1(MT-ATP6):m.8702C>T4508MT-ATP6Benign1603221713RCV000854294; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87028702M:g.8702C>T-
NC_012920.1(MT-ATP6):m.8704A>G4508MT-ATP6Conflicting interpretations of pathogenicity878852994RCV000224912|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-ATP6Benign878959404RCV000854296; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87058705M:g.8705T>C-
NC_012920.1(MT-ATP6):m.8711A>G4508MT-ATP6Likely benign1556423524RCV000854297; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87118711M:g.8711A>G-
NC_012920.1(MT-ATP6):m.8713A>G4508MT-ATP6Likely benign1603221721RCV000854298; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87138713M:g.8713A>G-
NC_012920.1(MT-ATP6):m.8714C>T4508MT-ATP6Uncertain significance1603221724RCV000854299; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87148714M:g.8714C>T-
NC_012920.1(MT-ATP6):m.8720G>A4508MT-ATP6Uncertain significance1603221728RCV000854302; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87208720M:g.8720G>A-
NC_012920.1(MT-ATP6):m.8720G>C4508MT-ATP6Uncertain significance1603221728RCV000854301; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87208720M:g.8720G>C-
NC_012920.1(MT-ATP6):m.8722C>T4508MT-ATP6Uncertain significance1603221733RCV000854303; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87228722M:g.8722C>T-
NC_012920.1(MT-ATP6):m.8723G>A4508MT-ATP6Benign1603221734RCV000854304; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87238723M:g.8723G>A-
NC_012920.1(MT-ATP6):m.8725A>G4508MT-ATP6Benign879216744RCV000854305; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87258725M:g.8725A>G-
NC_012920.1(MT-ATP6):m.8728T>C4508MT-ATP6Uncertain significance1603221742RCV000854306; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87288728M:g.8728T>C-
NC_012920.1(MT-ATP6):m.8731T>A4508MT-ATP6Uncertain significance1603221746RCV000854307; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87318731M:g.8731T>A-
NC_012920.1(MT-ATP6):m.8735T>C4508MT-ATP6Uncertain significance1603221752RCV000854308; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87358735M:g.8735T>C-
NC_012920.1(MT-ATP6):m.8737A>G4508MT-ATP6Uncertain significance1603221754RCV000854309; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87378737M:g.8737A>G-
NC_012920.1(MT-ATP6):m.8744T>C4508MT-ATP6Uncertain significance1603221756RCV000854310; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87448744M:g.8744T>C-
NC_012920.1(MT-ATP6):m.8746T>C4508MT-ATP6Uncertain significance1603221761RCV000854311; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87468746M:g.8746T>C-
NC_012920.1(MT-ATP6):m.8750T>C4508MT-ATP6Likely benign1603221765RCV000854312; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87508750M:g.8750T>C-
NC_012920.1(MT-ATP6):m.8752A>G4508MT-ATP6Benign1603221770RCV000854313; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87528752M:g.8752A>G-
NC_012920.1(MT-ATP6):m.8756T>C4508MT-ATP6Benign1556423532RCV000854314; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87568756M:g.8756T>C-
NC_012920.1(MT-ATP6):m.8761A>C4508MT-ATP6Uncertain significance1603221776RCV000854315; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87618761M:g.8761A>C-
NC_012920.1(MT-ATP6):m.8762T>C4508MT-ATP6Benign1603221778RCV000854316; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87628762M:g.8762T>C-
NC_012920.1(MT-ATP6):m.8764G>A4508MT-ATP6Benign1556423534RCV000854317; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87648764M:g.8764G>A-
NC_012920.1(MT-ATP6):m.8765C>T4508MT-ATP6Likely benign1603221781RCV000854318; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87658765M:g.8765C>T-
NC_012920.1(MT-ATP6):m.8767A>G4508MT-ATP6Likely benign1603221783RCV000854319; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87678767M:g.8767A>G-
NC_012920.1(MT-ATP6):m.8768C>T4508MT-ATP6Benign386829048RCV000854320; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87688768M:g.8768C>T-
NC_012920.1(MT-ATP6):m.8782G>A4508MT-ATP6Uncertain significance1603221801RCV000854321; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87828782M:g.8782G>A-
NC_012920.1(MT-ATP6):m.8785C>G4508MT-ATP6Uncertain significance1603221807RCV000854324; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87858785M:g.8785C>G-
NC_012920.1(MT-ATP6):m.8785C>T4508MT-ATP6Uncertain significance1603221807RCV000854323; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87858785M:g.8785C>T-
NC_012920.1(MT-ATP6):m.8789T>C4508MT-ATP6Uncertain significance1603221811RCV000854325; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87898789M:g.8789T>C-
NC_012920.1(MT-ATP6):m.8794C>T4508MT-ATP6Benign2298007RCV000854326; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M87948794M:g.8794C>T-
NC_012920.1(MT-ATP6):m.8800T>G4508MT-ATP6Uncertain significance1569484239RCV000854327; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88008800M:g.8800T>G-
NC_012920.1(MT-ATP6):m.8803A>T4508MT-ATP6Uncertain significance878853020RCV000224874|RCV000854329|RCV003319189; NMedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M88038803M:g.8803A>TClinGen:CA10581289CN517202 not provided;
NC_012920.1(MT-ATP6):m.8803A>G4508MT-ATP6Likely benign878853020RCV000854328; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88038803M:g.8803A>G-
NC_012920.1(MT-ATP6):m.8812A>G4508MT-ATP6Benign1556423543RCV000854330; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88128812M:g.8812A>G-
NC_012920.1(MT-ATP6):m.8812A>T4508MT-ATP6Uncertain significance1556423543RCV000854331; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88128812M:g.8812A>T-
NC_012920.1(MT-ATP6):m.8821T>C4508MT-ATP6Uncertain significance1603221825RCV000854332; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88218821M:g.8821T>C-
NC_012920.1(MT-ATP6):m.8824A>G4508MT-ATP6Uncertain significance1603221827RCV000854333; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88248824M:g.8824A>G-
NC_012920.1(MT-ATP6):m.8825T>C4508MT-ATP6Uncertain significance1603221830RCV000854334; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88258825M:g.8825T>C-
NC_012920.1(MT-ATP6):m.8836A>G4508MT-ATP6Benign1603221835RCV000854335; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88368836M:g.8836A>G-
NC_012920.1(MT-ATP6):m.8839G>A4508MT-ATP6Benign1556423547RCV000854336; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88398839M:g.8839G>A-
NC_012920.1(MT-ATP6):m.8840C>T4508MT-ATP6Uncertain significance1603221837RCV000854337; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88408840M:g.8840C>T-
NC_012920.1(MT-ATP6):m.8842A>C4508MT-ATP6Likely benign386829052RCV000854338; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88428842M:g.8842A>C-
NC_012920.1(MT-ATP6):m.8842A>G4508MT-ATP6Benign386829052RCV000854339; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88428842M:g.8842A>G-
NC_012920.1(MT-ATP6):m.8843T>C4508MT-ATP6Benign386829053RCV000854340; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88438843M:g.8843T>C-
NC_012920.1(MT-ATP6):m.8844C>A4508MT-ATP6Uncertain significance1603221840RCV000854341; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88448844M:g.8844C>A-
NC_012920.1:m.8851T>C4508MT-ATP6Uncertain significance199476136RCV000010280|RCV000144005|RCV001268336|RCV001542705|RCV002221472; YMONDO:MONDO:0010774,MedGen:C1839022,OMIM:500003|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, OrphanetM88518851M:g.8851T>CClinGen:CA120598,OMIM:516060.0006C0023264 256000 Leigh syndrome;
NC_012920.1(MT-ATP6):m.8854G>A4508MT-ATP6Benign386829055RCV000854342; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88548854M:g.8854G>A-
NC_012920.1(MT-ATP6):m.8857G>A4508MT-ATP6Benign201017581RCV000854343; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88578857M:g.8857G>A-
NC_012920.1(MT-ATP6):m.8860A>G4508MT-ATP6Benign2001031RCV000854344; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88608860M:g.8860A>G-
NC_012920.1(MT-ATP6):m.8863G>A4508MT-ATP6Uncertain significance1603221852RCV000854345; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88638863M:g.8863G>A-
NC_012920.1(MT-ATP6):m.8864T>C4508MT-ATP6Benign1556423555RCV000854346; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88648864M:g.8864T>C-
NC_012920.1(MT-ATP6):m.8866A>G4508MT-ATP6Benign1603221856RCV000854347; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88668866M:g.8866A>G-
NC_012920.1(MT-ATP6):m.8868T>A4508MT-ATP6Uncertain significance1556423556RCV000854348; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88688868M:g.8868T>A-
NC_012920.1(MT-ATP6):m.8869A>G4508MT-ATP6Benign41432347RCV000854349; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88698869M:g.8869A>G-
NC_012920.1(MT-ATP6):m.8870T>C4508MT-ATP6Benign1556423560RCV000854350; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88708870M:g.8870T>C-
NC_012920.1(MT-ATP6):m.8873G>C4508MT-ATP6Uncertain significance1603221864RCV000854351; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88738873M:g.8873G>C-
NC_012920.1(MT-ATP6):m.8875T>C4508MT-ATP6Benign201123510RCV000854352; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88758875M:g.8875T>C-
NC_012920.1(MT-ATP6):m.8879G>A4508MT-ATP6Uncertain significance1603221870RCV000854353; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88798879M:g.8879G>A-
NC_012920.1(MT-ATP6):m.8887A>G4508MT-ATP6Benign1556423565RCV000854354; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88878887M:g.8887A>G-
NC_012920.1(MT-ATP6):m.8888T>C4508MT-ATP6Likely benign1603221880RCV000854355; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88888888M:g.8888T>C-
NC_012920.1(MT-ATP6):m.8895T>A4508MT-ATP6Likely benign1603221884RCV000854356; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88958895M:g.8895T>A-
NC_012920.1(MT-ATP6):m.8896G>A4508MT-ATP6Benign202120082RCV000854357; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88968896M:g.8896G>A-
NC_012920.1(MT-ATP6):m.8897C>T4508MT-ATP6Benign1603221889RCV000854358; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M88978897M:g.8897C>T-
NC_012920.1(MT-ATP6):m.8906A>C4508MT-ATP6Uncertain significance1603221897RCV000854359; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89068906M:g.8906A>C-
NC_012920.1(MT-ATP6):m.8908T>C4508MT-ATP6Likely benign1603221898RCV000854360; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89088908M:g.8908T>C-
NC_012920.1(MT-ATP6):m.8910C>A4508MT-ATP6Benign1603221899RCV000854361; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89108910M:g.8910C>A-
NC_012920.1(MT-ATP6):m.8920G>A4508MT-ATP6Uncertain significance28406348RCV000854362; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89208920M:g.8920G>A-
NC_012920.1(MT-ATP6):m.8921G>A4508MT-ATP6Uncertain significance2298008RCV000854363; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89218921M:g.8921G>A-
NC_012920.1(MT-ATP6):m.8923A>G4508MT-ATP6Likely benign200329150RCV000854364; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89238923M:g.8923A>G-
NC_012920.1(MT-ATP6):m.8930C>T4508MT-ATP6Likely benign1603221915RCV000854365; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89308930M:g.8930C>T-
NC_012920.1(MT-ATP6):m.8932C>T4508MT-ATP6Benign878853013RCV000224223|RCV000854366|RCV001526415; NMedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M89328932M:g.8932C>TClinGen:CA10581280CN517202 not provided;
NC_012920.1(MT-ATP6):m.8933C>T4508MT-ATP6Uncertain significance1603221918RCV000854367; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89338933M:g.8933C>T-
NC_012920.1(MT-ATP6):m.8935C>T4508MT-ATP6Uncertain significance28377547RCV000854368; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89358935M:g.8935C>T-
NC_012920.1(MT-ATP6):m.8936T>C4508MT-ATP6Uncertain significance1603221920RCV000854369; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89368936M:g.8936T>C-
NC_012920.1(MT-ATP6):m.8938A>G4508MT-ATP6Benign1603221923RCV000854370; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89388938M:g.8938A>G-
NC_012920.1(MT-ATP6):m.8939T>C4508MT-ATP6Likely benign1603221925RCV000854371; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89398939M:g.8939T>C-
NC_012920.1(MT-ATP6):m.8941C>T4508MT-ATP6Uncertain significance1603221928RCV000854372; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89418941M:g.8941C>T-
NC_012920.1(MT-ATP6):m.8944A>G4508MT-ATP6Likely benign1603221929RCV000854373; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89448944M:g.8944A>G-
NC_012920.1:m.8950G>A4508MT-ATP6Benign1556423574RCV000766134|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 significance1603221934RCV000854375; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89518951M:g.8951T>C-
NC_012920.1(MT-ATP6):m.8953A>G4508MT-ATP6Uncertain significance1603221936RCV000854376; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89538953M:g.8953A>G-
NC_012920.1(MT-ATP6):m.8954T>C4508MT-ATP6Uncertain significance1556423576RCV000854377; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89548954M:g.8954T>C-
NC_012920.1(MT-ATP6):m.8959G>A4508MT-ATP6Uncertain significance1603221944RCV000854378; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89598959M:g.8959G>A-
NC_012920.1(MT-ATP6):m.8962A>G4508MT-ATP6Benign1603221945RCV000854379; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89628962M:g.8962A>G-
NC_012920.1(MT-ATP6):m.8966T>C4508MT-ATP6Likely benign1556423580RCV000854380; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89668966M:g.8966T>C-
NC_012920.1(MT-ATP6):m.8972T>C4508MT-ATP6Uncertain significance1603221948RCV000854382; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89728972M:g.8972T>C-
NC_012920.1(MT-ATP6):m.8974C>G4508MT-ATP6Likely benign1603221949RCV000854383; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89748974M:g.8974C>G-
NC_012920.1(MT-ATP6):m.8975T>C4508MT-ATP6Likely benign1981459RCV000854384|RCV001824896; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN043634M89758975M:g.8975T>C-
NC_012920.1(MT-ATP6):m.8978T>C4508MT-ATP6Benign1603221954RCV000854385; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89788978M:g.8978T>C-
NC_012920.1(MT-ATP6):m.8981A>G4508MT-ATP6Likely benign1603221955RCV000854386; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89818981M:g.8981A>G-
NC_012920.1(MT-ATP6):m.8986A>G4508MT-ATP6Likely benign1603221956RCV000854387; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89868986M:g.8986A>G-
NC_012920.1(MT-ATP6):m.8987T>C4508MT-ATP6Likely benign1603221957RCV000854388; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89878987M:g.8987T>C-
NC_012920.1:m.8989G>C4508MT-ATP6not provided587776444RCV000144025; 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 benign587776444RCV000854389; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89898989M:g.8989G>A-
NC_012920.1(MT-ATP6):m.8998G>A4508MT-ATP6Benign376792657RCV000854392; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89988998M:g.8998G>A-
NC_012920.1(MT-ATP6):m.8999T>C4508MT-ATP6Likely benign1603221963RCV000854393; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M89998999M:g.8999T>C-
NC_012920.1(MT-ATP6):m.9005T>C4508MT-ATP6Uncertain significance1603221971RCV000854394; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90059005M:g.9005T>C-
NC_012920.1(MT-ATP6):m.9007A>G4508MT-ATP6Benign1603221973RCV000854395; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90079007M:g.9007A>G-
NC_012920.1(MT-ATP6):m.9007A>T4508MT-ATP6Likely benign1603221973RCV000854396; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90079007M:g.9007A>T-
NC_012920.1(MT-ATP6):m.9010G>A4508MT-ATP6Likely benign1556423589RCV000854397; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90109010M:g.9010G>A-
NC_012920.1(MT-ATP6):m.9014A>G4508MT-ATP6Uncertain significance1603221980RCV000854398; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90149014M:g.9014A>G-
NC_012920.1(MT-ATP6):m.9016A>G4508MT-ATP6Likely benign1556423591RCV000854399; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90169016M:g.9016A>G-
NC_012920.1(MT-ATP6):m.9019A>G4508MT-ATP6Uncertain significance1603221982RCV000854400; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90199019M:g.9019A>G-
NC_012920.1(MT-ATP6):m.9025G>A4508MT-ATP6Benign28681063RCV000854401; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90259025M:g.9025G>A-
NC_012920.1(MT-ATP6):m.9026G>A4508MT-ATP6Uncertain significance1603221987RCV000854402|RCV001526416; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M90269026M:g.9026G>A-
NC_012920.1(MT-ATP6):m.9028C>T4508MT-ATP6Uncertain significance1603221990RCV000854403; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90289028M:g.9028C>T-
NC_012920.1(MT-ATP6):m.9029A>G4508MT-ATP6Uncertain significance1603221991RCV000854404; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90299029M:g.9029A>G-
NC_012920.1(MT-ATP6):m.9032T>C4508MT-ATP6Uncertain significance1603221994RCV000854405|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.9038T>C4508MT-ATP6Uncertain significance1603222003RCV000854407|RCV001196451|RCV003319216; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506||MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M90389038M:g.9038T>C-
NC_012920.1:m.9041A>G4508MT-ATP6Benign879244322RCV000509426|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 significance1603222008RCV000854409; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90479047M:g.9047T>C-
NC_012920.1(MT-ATP6):m.9052A>G4508MT-ATP6Benign1556423597RCV000854411; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90529052M:g.9052A>G-
NC_012920.1(MT-ATP6):m.9053G>A4508MT-ATP6Benign199646902RCV000854412; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90539053M:g.9053G>A-
NC_012920.1(MT-ATP6):m.9055G>A4508MT-ATP6Benign193303045RCV000854413|RCV001796802; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M90559055M:g.9055G>A-
NC_012920.1(MT-ATP6):m.9056C>T4508MT-ATP6Benign1603222017RCV000854414; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90569056M:g.9056C>T-
NC_012920.1(MT-ATP6):m.9058A>C4508MT-ATP6Uncertain significance1556423599RCV000854416; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90589058M:g.9058A>C-
NC_012920.1(MT-ATP6):m.9058A>G4508MT-ATP6Benign1556423599RCV000854415; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90589058M:g.9058A>G-
NC_012920.1(MT-ATP6):m.9064G>A4508MT-ATP6Benign386420013RCV000854417; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90649064M:g.9064G>A-
NC_012920.1(MT-ATP6):m.9067A>G4508MT-ATP6Benign1603222028RCV000854418; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90679067M:g.9067A>G-
NC_012920.1(MT-ATP6):m.9070T>C4508MT-ATP6Uncertain significance879190502RCV000854419; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90709070M:g.9070T>C-
NC_012920.1(MT-ATP6):m.9070T>G4508MT-ATP6Benign879190502RCV000854420; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90709070M:g.9070T>G-
NC_012920.1(MT-ATP6):m.9071C>T4508MT-ATP6Likely benign1603222032RCV000854421; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90719071M:g.9071C>T-
NC_012920.1(MT-ATP6):m.9073A>C4508MT-ATP6Uncertain significance1556423603RCV000854422; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90739073M:g.9073A>C-
NC_012920.1(MT-ATP6):m.9077T>C4508MT-ATP6Benign1603222037RCV000854423; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90779077M:g.9077T>C-
NC_012920.1(MT-ATP6):m.9079A>G4508MT-ATP6Likely benign1603222038RCV000854424; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90799079M:g.9079A>G-
NC_012920.1(MT-ATP6):m.9080A>G4508MT-ATP6Benign1556423607RCV000854425; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90809080M:g.9080A>G-
NC_012920.1(MT-ATP6):m.9082C>T4508MT-ATP6Uncertain significance1603222043RCV000854426; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90829082M:g.9082C>T-
NC_012920.1(MT-ATP6):m.9083T>C4508MT-ATP6Benign1603222045RCV000854427; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90839083M:g.9083T>C-
NC_012920.1(MT-ATP6):m.9085C>A4508MT-ATP6Uncertain significance1603222048RCV000854428; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90859085M:g.9085C>A-
NC_012920.1(MT-ATP6):m.9086C>T4508MT-ATP6Uncertain significance1603222049RCV000854429; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90869086M:g.9086C>T-
NC_012920.1(MT-ATP6):m.9088T>C4508MT-ATP6Benign370460521RCV000854430; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90889088M:g.9088T>C-
NC_012920.1(MT-ATP6):m.9091A>G4508MT-ATP6Benign1057520079RCV000423626|RCV000854431|RCV003319196; NMedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M90919091M:g.9091A>GClinGen:CA16603197CN517202 not provided;
NC_012920.1(MT-ATP6):m.9094C>T4508MT-ATP6Benign1603222055RCV000854432; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90949094M:g.9094C>T-
NC_012920.1(MT-ATP6):m.9095T>C4508MT-ATP6Likely benign1603222056RCV000854433; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90959095M:g.9095T>C-
NC_012920.1(MT-ATP6):m.9097A>G4508MT-ATP6Benign1603222059RCV000854434; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90979097M:g.9097A>G-
NC_012920.1(MT-ATP6):m.9098T>C4508MT-ATP6Benign201559119RCV000854435; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90989098M:g.9098T>C-
NC_012920.1(MT-ATP6):m.9098T>G4508MT-ATP6Benign201559119RCV000854436; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90989098M:g.9098T>G-
NC_012920.1(MT-ATP6):m.9099C>A4508MT-ATP6Uncertain significance1603222065RCV000854437; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M90999099M:g.9099C>A-
NC_012920.1(MT-ATP6):m.9100A>G4508MT-ATP6Benign1603222068RCV000854438; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91009100M:g.9100A>G-
m.9101T>C4508MT-ATP6Benign199476134RCV000010277|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-ATP6Benign199476134RCV000854440; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91019101M:g.9101T>G-
NC_012920.1(MT-ATP6):m.9103T>C4508MT-ATP6Benign1603222077RCV000854441; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91039103M:g.9103T>C-
NC_012920.1(MT-ATP6):m.9104T>C4508MT-ATP6Uncertain significance1603222079RCV000854442; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91049104M:g.9104T>C-
NC_012920.1(MT-ATP6):m.9106A>G4508MT-ATP6Uncertain significance1603222082RCV000854443; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91069106M:g.9106A>G-
NC_012920.1(MT-ATP6):m.9110T>C4508MT-ATP6Benign1603222087RCV000854444; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91109110M:g.9110T>C-
NC_012920.1(MT-ATP6):m.9115A>G4508MT-ATP6Benign1603222091RCV000854445; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91159115M:g.9115A>G-
NC_012920.1(MT-ATP6):m.9116T>C4508MT-ATP6Benign376203575RCV000854446; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91169116M:g.9116T>C-
NC_012920.1(MT-ATP6):m.9122T>G4508MT-ATP6Uncertain significance1603222104RCV000854447; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91229122M:g.9122T>G-
NC_012920.1(MT-ATP6):m.9125C>T4508MT-ATP6Uncertain significance1603222109RCV000854448; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91259125M:g.9125C>T-
NC_012920.1(MT-ATP6):m.9127A>G4508MT-ATP6Benign199732761RCV000854449; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91279127M:g.9127A>G-
NC_012920.1(MT-ATP6):m.9128T>C4508MT-ATP6Benign878867946RCV000854450; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91289128M:g.9128T>C-
NC_012920.1(MT-ATP6):m.9130C>A4508MT-ATP6Likely benign1603222113RCV000854451; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91309130M:g.9130C>A-
NC_012920.1(MT-ATP6):m.9133G>A4508MT-ATP6Uncertain significance1603222118RCV000854452; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91339133M:g.9133G>A-
NC_012920.1(MT-ATP6):m.9137T>C4508MT-ATP6Benign1603222121RCV000854454; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91379137M:g.9137T>C-
NC_012920.1(MT-ATP6):m.9139G>A4508MT-ATP6Benign879243938RCV000854455; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91399139M:g.9139G>A-
NC_012920.1(MT-ATP6):m.9140C>T4508MT-ATP6Uncertain significance878972895RCV000854456; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91409140M:g.9140C>T-
NC_012920.1(MT-ATP6):m.9142G>A4508MT-ATP6Benign200660596RCV000854457; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91429142M:g.9142G>A-
NC_012920.1(MT-ATP6):m.9145G>A4508MT-ATP6Benign1556423622RCV000854458; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91459145M:g.9145G>A-
NC_012920.1(MT-ATP6):m.9151A>G4508MT-ATP6Benign879206297RCV000854459; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91519151M:g.9151A>G-
NC_012920.1:m.9152T>C4508MT-ATP6Conflicting interpretations of pathogenicity878853096RCV000224169|RCV000709942|RCV000854460; NMedGen:CN517202||MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91529152M:g.9152T>CClinGen:CA10581404CN517202 not provided;
NC_012920.1:m.9157G>A4508MT-ATP6Likely benign1556423625RCV000509437|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 significance1603222140RCV000854462; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91609160M:g.9160T>C-
NC_012920.1(MT-ATP6):m.9163G>A4508MT-ATP6Benign2298010RCV000854463; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91639163M:g.9163G>A-
NC_012920.1:m.9166T>C4508MT-ATP6Uncertain significance1057516063RCV000408929|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,MeSH:D028361,MedGen:C0751651, Orphanet:68380M91669166M:g.9166T>CClinGen:CA16040651C3887709 Optic neuropathy;
NC_012920.1(MT-ATP6):m.9167T>C4508MT-ATP6Uncertain significance1603222143RCV000854465; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91679167M:g.9167T>C-
NC_012920.1(MT-ATP6):m.9169A>G4508MT-ATP6Uncertain significance1603222145RCV000854466; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91699169M:g.9169A>G-
NC_012920.1(MT-ATP6):m.9170C>T4508MT-ATP6Uncertain significance1603222148RCV000854467; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91709170M:g.9170C>T-
NC_012920.1(MT-ATP6):m.9179T>C4508MT-ATP6Uncertain significance1603222150RCV000854468; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91799179M:g.9179T>C-
NC_012920.1(MT-ATP6):m.9181A>G4508MT-ATP6Benign1556423628RCV000854469; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91819181M:g.9181A>G-
NC_012920.1(MT-ATP6):m.9182G>A4508MT-ATP6Benign1556423629RCV000854470; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91829182M:g.9182G>A-
NC_012920.1(MT-ATP6):m.9188A>G4508MT-ATP6Uncertain significance1603222161RCV000854471; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91889188M:g.9188A>G-
NC_012920.1(MT-ATP6):m.9194A>G4508MT-ATP6Uncertain significance1603222162RCV000854472; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91949194M:g.9194A>G-
NC_012920.1(MT-ATP6):m.9196G>A4508MT-ATP6Benign374870159RCV000854473; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M91969196M:g.9196G>A-
NC_012920.1(MT-ATP6):m.9202A>G4508MT-ATP6Uncertain significance1603222169RCV000854474; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92029202M:g.9202A>G-
NC_012920.1(MT-ATP6):m.9205T>C4508MT-ATP6Uncertain significance1603222171RCV000854475; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92059205M:g.9205T>C-
NC_012920.1:m.8530A>G-1MT-ATP6;MT-ATP8Likely benign1556423480RCV000854220; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85308530M:g.8530A>G-
NC_012920.1:m.8531A>G-1MT-ATP6;MT-ATP8Likely benign1556423481RCV000854221; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85318531M:g.8531A>G-
NC_012920.1:m.8533G>A-1MT-ATP6;MT-ATP8Likely benign386829039RCV000854222; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85338533M:g.8533G>A-
NC_012920.1:m.8537A>G-1MT-ATP6;MT-ATP8Benign1603221571RCV000854223; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85378537M:g.8537A>G-
NC_012920.1:m.8540T>C-1MT-ATP6;MT-ATP8Uncertain significance878852987RCV000224948|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-ATP8Benign1569484218RCV000854225; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85418541M:g.8541G>A-
NC_012920.1:m.8542T>C-1MT-ATP6;MT-ATP8Benign1603221575RCV000854226; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85428542M:g.8542T>C-
NC_012920.1:m.8547T>C-1MT-ATP6;MT-ATP8Likely benign1603221579RCV000854228; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85478547M:g.8547T>C-
NC_012920.1:m.8548T>C-1MT-ATP6;MT-ATP8Benign1603221580RCV000854229; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85488548M:g.8548T>C-
NC_012920.1:m.8550A>G-1MT-ATP6;MT-ATP8Uncertain significance1603221581RCV000854230; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85508550M:g.8550A>G-
NC_012920.1:m.8551T>C-1MT-ATP6;MT-ATP8Likely benign1556423486RCV000854231; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85518551M:g.8551T>C-
NC_012920.1:m.8552T>C-1MT-ATP6;MT-ATP8Benign1603221582RCV000854232; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85528552M:g.8552T>C-
NC_012920.1:m.8554A>G-1MT-ATP6;MT-ATP8Likely benign1603221583RCV000854234; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85548554M:g.8554A>G-
NC_012920.1:m.8557G>C-1MT-ATP6;MT-ATP8Likely benign386829040RCV000854236; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85578557M:g.8557G>C-
NC_012920.1:m.8562C>T-1MT-ATP6;MT-ATP8Benign1603221584RCV000854237; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85628562M:g.8562C>T-
NC_012920.1:m.8563A>G-1MT-ATP6;MT-ATP8Benign386829041RCV000854238; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85638563M:g.8563A>G-
NC_012920.1:m.8566A>G-1MT-ATP6;MT-ATP8Benign3020563RCV000854239; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85668566M:g.8566A>G-
NC_012920.1:m.8567T>C-1MT-ATP6;MT-ATP8Benign1603221586RCV000854240; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85678567M:g.8567T>C-
NC_012920.1:m.8568C>A-1MT-ATP6;MT-ATP8Uncertain significance1603221589RCV000854241; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85688568M:g.8568C>A-
NC_012920.1:m.8572G>A-1MT-ATP6;MT-ATP8Benign28502681RCV000854242; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85728572M:g.8572G>A-
NC_012920.1(MT-ATP8):m.8369C>T4509MT-ATP8Uncertain significance1603221429RCV000854161; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83698369M:g.8369C>T-
NC_012920.1(MT-ATP8):m.8373A>G4509MT-ATP8Uncertain significance1603221431RCV000854162; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83738373M:g.8373A>G-
NC_012920.1(MT-ATP8):m.8373A>T4509MT-ATP8Uncertain significance1603221431RCV000854163; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83738373M:g.8373A>T-
NC_012920.1(MT-ATP8):m.8379A>G4509MT-ATP8Uncertain significance1603221434RCV000854164; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83798379M:g.8379A>G-
NC_012920.1(MT-ATP8):m.8381A>G4509MT-ATP8Benign1603221438RCV000854165; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83818381M:g.8381A>G-
NC_012920.1(MT-ATP8):m.8381A>T4509MT-ATP8Uncertain significance1603221438RCV000854166; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83818381M:g.8381A>T-
NC_012920.1(MT-ATP8):m.8382C>T4509MT-ATP8Uncertain significance1556423437RCV000514213|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-ATP8Benign1556423439RCV000854168; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83878387M:g.8387G>A-
NC_012920.1(MT-ATP8):m.8388T>C4509MT-ATP8Benign879199176RCV000854169; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83888388M:g.8388T>C-
m.8393C>T4509MT-ATP8Benign1556423442RCV000010270|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 significance1603221450RCV000854171; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83948394M:g.8394C>T-
NC_012920.1(MT-ATP8):m.8396A>G4509MT-ATP8Benign1603221454RCV000854172; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83968396M:g.8396A>G-
NC_012920.1(MT-ATP8):m.8397C>G4509MT-ATP8Uncertain significance1603221456RCV000854173; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M83978397M:g.8397C>G-
NC_012920.1(MT-ATP8):m.8400T>C4509MT-ATP8Benign1603221459RCV000854174; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84008400M:g.8400T>C-
NC_012920.1(MT-ATP8):m.8403T>C4509MT-ATP8Uncertain significance1603221460RCV000854175; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84038403M:g.8403T>C-
NC_012920.1(MT-ATP8):m.8406C>T4509MT-ATP8Benign1556423448RCV000854176; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84068406M:g.8406C>T-
NC_012920.1(MT-ATP8):m.8411A>C4509MT-ATP8Uncertain significance878942289RCV000854177; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84118411M:g.8411A>C-
NC_012920.1(MT-ATP8):m.8411A>G4509MT-ATP8Uncertain significance878942289RCV000854178; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84118411M:g.8411A>G-
NC_012920.1(MT-ATP8):m.8412T>C4509MT-ATP8Uncertain significance1556423451RCV000854179; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84128412M:g.8412T>C-
NC_012920.1(MT-ATP8):m.8414C>T4509MT-ATP8Benign28358884RCV000854180; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84148414M:g.8414C>T-
NC_012920.1(MT-ATP8):m.8415T>C4509MT-ATP8Uncertain significance1603221470RCV000854181; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84158415M:g.8415T>C-
NC_012920.1(MT-ATP8):m.8417C>T4509MT-ATP8Benign199616772RCV000854182; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84178417M:g.8417C>T-
NC_012920.1(MT-ATP8):m.8426T>C4509MT-ATP8Benign1556423461RCV000854183; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84268426M:g.8426T>C-
NC_012920.1(MT-ATP8):m.8429C>T4509MT-ATP8Benign1603221477RCV000854184; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84298429M:g.8429C>T-
NC_012920.1(MT-ATP8):m.8430T>C4509MT-ATP8Uncertain significance1603221478RCV000854185; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84308430M:g.8430T>C-
NC_012920.1(MT-ATP8):m.8433T>C4509MT-ATP8Benign1603221480RCV000854186; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84338433M:g.8433T>C-
NC_012920.1(MT-ATP8):m.8435A>G4509MT-ATP8Benign1603221481RCV000854188; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84358435M:g.8435A>G-
NC_012920.1(MT-ATP8):m.8435A>T4509MT-ATP8Uncertain significance1603221481RCV000854187; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84358435M:g.8435A>T-
NC_012920.1(MT-ATP8):m.8448T>C4509MT-ATP8Benign879056797RCV000854189; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84488448M:g.8448T>C-
NC_012920.1(MT-ATP8):m.8453A>G4509MT-ATP8Likely benign1603221486RCV000854190; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84538453M:g.8453A>G-
NC_012920.1(MT-ATP8):m.8454A>G4509MT-ATP8Benign1603221488RCV000854191; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84548454M:g.8454A>G-
NC_012920.1(MT-ATP8):m.8460A>G4509MT-ATP8Benign1116906RCV000854192; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84608460M:g.8460A>G-
NC_012920.1(MT-ATP8):m.8461C>A4509MT-ATP8Likely benign1603221493RCV000854193; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84618461M:g.8461C>A-
NC_012920.1(MT-ATP8):m.8462T>C4509MT-ATP8Benign1603221496RCV000854194; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84628462M:g.8462T>C-
NC_012920.1(MT-ATP8):m.8463A>G4509MT-ATP8Benign1603221498RCV000854195; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84638463M:g.8463A>G-
NC_012920.1(MT-ATP8):m.8466A>G4509MT-ATP8Uncertain significance1603221500RCV000854196; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84668466M:g.8466A>G-
NC_012920.1(MT-ATP8):m.8469T>C4509MT-ATP8Uncertain significance1603221503RCV000854197; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84698469M:g.8469T>C-
NC_012920.1(MT-ATP8):m.8471C>T4509MT-ATP8Likely benign1603221506RCV000854198; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84718471M:g.8471C>T-
NC_012920.1(MT-ATP8):m.8472C>T4509MT-ATP8Benign879209186RCV000854199; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84728472M:g.8472C>T-
NC_012920.1(MT-ATP8):m.8474C>T4509MT-ATP8Uncertain significance1603221515RCV000854200; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84748474M:g.8474C>T-
NC_012920.1(MT-ATP8):m.8477T>C4509MT-ATP8Benign1603221517RCV000854201; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84778477M:g.8477T>C-
NC_012920.1(MT-ATP8):m.8478C>T4509MT-ATP8Benign201902227RCV000854202; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84788478M:g.8478C>T-
NC_012920.1(MT-ATP8):m.8480C>T4509MT-ATP8Uncertain significance1603221520RCV000854203; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84808480M:g.8480C>T-
NC_012920.1(MT-ATP8):m.8481C>T4509MT-ATP8Uncertain significance1603221521RCV000854204; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84818481M:g.8481C>T-
NC_012920.1(MT-ATP8):m.8489A>G4509MT-ATP8Likely benign1603221529RCV000854205; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84898489M:g.8489A>G-
NC_012920.1(MT-ATP8):m.8490T>C4509MT-ATP8Benign1603221530RCV000854206; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84908490M:g.8490T>C-
NC_012920.1(MT-ATP8):m.8496T>C4509MT-ATP8Benign1603221534RCV000854207; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M84968496M:g.8496T>C-
NC_012920.1(MT-ATP8):m.8502A>G4509MT-ATP8Benign879247004RCV000854208; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85028502M:g.8502A>G-
NC_012920.1(MT-ATP8):m.8502A>T4509MT-ATP8Uncertain significance879247004RCV000854209; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85028502M:g.8502A>T-
NC_012920.1(MT-ATP8):m.8504T>C4509MT-ATP8Benign1603221542RCV000854210; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85048504M:g.8504T>C-
NC_012920.1(MT-ATP8):m.8507A>G4509MT-ATP8Likely benign1603221546RCV000854211; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85078507M:g.8507A>G-
NC_012920.1(MT-ATP8):m.8508A>G4509MT-ATP8Benign1603221548RCV000854212; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85088508M:g.8508A>G-
NC_012920.1(MT-ATP8):m.8514C>T4509MT-ATP8Uncertain significance1603221554RCV000854213; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85148514M:g.8514C>T-
NC_012920.1(MT-ATP8):m.8516T>C4509MT-ATP8Likely benign878928585RCV000854214; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85168516M:g.8516T>C-
NC_012920.1(MT-ATP8):m.8519G>A4509MT-ATP8Benign/Likely benign878853091RCV000224901|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 benign1603221561RCV000854216; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85208520M:g.8520A>G-
NC_012920.1(MT-ATP8):m.8522C>T4509MT-ATP8Benign1603221562RCV000854217; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85228522M:g.8522C>T-
NC_012920.1:m.8527A>G-1MT-ATP8;MT-ATP6Benign/Likely benign878853003RCV000224525|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-ATP6Benign1603221578RCV000854227; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85458545M:g.8545G>A-
NC_012920.1:m.8553C>T-1MT-ATP8;MT-ATP6Conflicting interpretations of pathogenicity1569484219RCV000757478|RCV000854233; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M85538553m.8553C>T-
NC_012920.1(MT-CO1):m.6526T>C4512MT-CO1Likely pathogenic1603220522RCV000853981; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M65266526M:g.6526T>C-
NC_012920.1(MT-CO1):m.5907T>C4512MT-CO1Uncertain significance1603220176RCV000853917; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M59075907M:g.5907T>C-
NC_012920.1(MT-CO1):m.5910G>A4512MT-CO1Benign1603220177RCV000853918; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M59105910M:g.5910G>A-
NC_012920.1(MT-CO1):m.5911C>T4512MT-CO1Benign879227822RCV000853919; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M59115911M:g.5911C>T-
NC_012920.1(MT-CO1):m.5913G>A4512MT-CO1Benign201617272RCV000853920|RCV001288242; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374M59135913M:g.5913G>A-
NC_012920.1(MT-CO1):m.5961C>A4512MT-CO1Uncertain significance1603220201RCV000853921; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M59615961M:g.5961C>A-
NC_012920.1(MT-CO1):m.5973G>A4512MT-CO1Benign1556423059RCV000853922; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M59735973M:g.5973G>A-
NC_012920.1(MT-CO1):m.5979G>A4512MT-CO1Benign1556423060RCV000853923; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M59795979M:g.5979G>A-
NC_012920.1(MT-CO1):m.5985G>A4512MT-CO1Benign386828982RCV000853924; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M59855985M:g.5985G>A-
NC_012920.1(MT-CO1):m.6012A>G4512MT-CO1Uncertain significance1603220222RCV000853925; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60126012M:g.6012A>G-
NC_012920.1(MT-CO1):m.6018G>A4512MT-CO1Benign1603220225RCV000853926; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60186018M:g.6018G>A-
NC_012920.1(MT-CO1):m.6037G>A4512MT-CO1Uncertain significance1603220237RCV000853927; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60376037M:g.6037G>A-
NC_012920.1(MT-CO1):m.6040A>G4512MT-CO1Benign1556423072RCV000853928; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60406040M:g.6040A>G-
NC_012920.1(MT-CO1):m.6048G>A4512MT-CO1Uncertain significance1603220242RCV000853929; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60486048M:g.6048G>A-
NC_012920.1(MT-CO1):m.6052A>G4512MT-CO1Likely benign1603220245RCV000853930; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60526052M:g.6052A>G-
NC_012920.1(MT-CO1):m.6060A>C4512MT-CO1Uncertain significance1603220250RCV000853931; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60606060M:g.6060A>C-
NC_012920.1(MT-CO1):m.6060A>G4512MT-CO1Likely benign1603220250RCV000853932; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60606060M:g.6060A>G-
NC_012920.1(MT-CO1):m.6061T>C4512MT-CO1Uncertain significance1603220252RCV000853933; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60616061M:g.6061T>C-
NC_012920.1(MT-CO1):m.6072A>G4512MT-CO1Uncertain significance1556423078RCV000853934; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60726072M:g.6072A>G-
NC_012920.1(MT-CO1):m.6075G>A4512MT-CO1Uncertain significance1603220260RCV000853935; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60756075M:g.6075G>A-
NC_012920.1(MT-CO1):m.6081G>A4512MT-CO1Likely benign1603220261RCV000853936; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60816081M:g.6081G>A-
NC_012920.1(MT-CO1):m.6081G>T4512MT-CO1Uncertain significance1603220261RCV000853937; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60816081M:g.6081G>T-
NC_012920.1(MT-CO1):m.6093G>A4512MT-CO1Uncertain significance1603220271RCV000853938; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M60936093M:g.6093G>A-
NC_012920.1(MT-CO1):m.6109T>C4512MT-CO1Uncertain significance1603220275RCV000853939; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M61096109M:g.6109T>C-
NC_012920.1(MT-CO1):m.6120A>G4512MT-CO1Uncertain significance878853023RCV000224535|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 significance1603220280RCV000853941; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M61216121M:g.6121T>C-
NC_012920.1(MT-CO1):m.6126A>G4512MT-CO1Likely benign1556423082RCV000853942; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M61266126M:g.6126A>G-
NC_012920.1(MT-CO1):m.6132G>A4512MT-CO1Uncertain significance1603220289RCV000853943; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M61326132M:g.6132G>A-
NC_012920.1(MT-CO1):m.6150G>A4512MT-CO1Benign879053914RCV000853945; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M61506150M:g.6150G>A-
NC_012920.1(MT-CO1):m.6174G>A4512MT-CO1Uncertain significance1603220303RCV000853946; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M61746174M:g.6174G>A-
NC_012920.1(MT-CO1):m.6228C>T4512MT-CO1Benign1603220332RCV000853947; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62286228M:g.6228C>T-
NC_012920.1(MT-CO1):m.6237C>A4512MT-CO1Benign1603220344RCV000853948; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62376237M:g.6237C>A-
NC_012920.1(MT-CO1):m.6249G>A4512MT-CO1Benign1556423095RCV000853949; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62496249M:g.6249G>A-
NC_012920.1(MT-CO1):m.6252A>G4512MT-CO1Likely benign878927119RCV000853950; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62526252M:g.6252A>G-
NC_012920.1(MT-CO1):m.6253T>C4512MT-CO1Benign200165736RCV000853951; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62536253M:g.6253T>C-
NC_012920.1(MT-CO1):m.6258G>A4512MT-CO1Uncertain significance1603220372RCV000853952; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62586258M:g.6258G>A-
NC_012920.1(MT-CO1):m.6261G>A4512MT-CO1Benign/Likely benign201262114RCV000224375|RCV000853953; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62616261M:g.6261G>AClinGen:CA10581412CN517202 not provided;
m.6264G>A4512MT-CO1Uncertain significance267606882RCV000010305|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-CO1Benign202216551RCV000853955; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62676267M:g.6267G>A-
NC_012920.1(MT-CO1):m.6273A>G4512MT-CO1Uncertain significance1603220381RCV000853956; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62736273M:g.6273A>G-
NC_012920.1(MT-CO1):m.6285G>A4512MT-CO1Benign878947044RCV000853957; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62856285M:g.6285G>A-
NC_012920.1(MT-CO1):m.6286T>C4512MT-CO1Uncertain significance1603220392RCV000853958; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62866286M:g.6286T>C-
NC_012920.1(MT-CO1):m.6289A>G4512MT-CO1Uncertain significance1603220395RCV000853959; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M62896289M:g.6289A>G-
NC_012920.1(MT-CO1):m.6307A>G4512MT-CO1Uncertain significance1603220406RCV000853960; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M63076307M:g.6307A>G-
NC_012920.1(MT-CO1):m.6324G>A4512MT-CO1Uncertain significance1603220417RCV000853961; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M63246324M:g.6324G>A-
NC_012920.1(MT-CO1):m.6339A>G4512MT-CO1Likely benign1556423119RCV000853962; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M63396339M:g.6339A>G-
NC_012920.1(MT-CO1):m.6340C>T4512MT-CO1Benign1603220429RCV000853963; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M63406340M:g.6340C>T-
NC_012920.1(MT-CO1):m.6345T>C4512MT-CO1Benign1556423121RCV000853964; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M63456345M:g.6345T>C-
NC_012920.1(MT-CO1):m.6358T>C4512MT-CO1Uncertain significance1603220439RCV000853965; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M63586358M:g.6358T>C-
NC_012920.1(MT-CO1):m.6366G>A4512MT-CO1Benign370673798RCV000853966; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M63666366M:g.6366G>A-
NC_012920.1(MT-CO1):m.6366G>C4512MT-CO1Benign370673798RCV000853967; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M63666366M:g.6366G>C-
NC_012920.1(MT-CO1):m.6367T>C4512MT-CO1Likely benign1603220442RCV000853968; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M63676367M:g.6367T>C-
NC_012920.1(MT-CO1):m.6393T>C4512MT-CO1Uncertain significance879212050RCV000853969; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M63936393M:g.6393T>C-
NC_012920.1(MT-CO1):m.6420C>A4512MT-CO1Uncertain significance1603220466RCV000853970; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M64206420M:g.6420C>A-
NC_012920.1(MT-CO1):m.6445C>T4512MT-CO1Likely benign879164161RCV000853971; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M64456445M:g.6445C>T-
NC_012920.1(MT-CO1):m.6456G>A4512MT-CO1Benign1603220483RCV000853972; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M64566456M:g.6456G>A-
NC_012920.1(MT-CO1):m.6465G>A4512MT-CO1Benign28414181RCV000853973; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M64656465M:g.6465G>A-
m.6480G>A4512MT-CO1Benign199476128RCV000010304|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 significance28721398RCV000853975; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M64816481M:g.6481T>C-
m.6489C>A4512MT-CO1Benign28461189RCV000010308|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 significance1603220512RCV000853977; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M65046504M:g.6504G>A-
NC_012920.1(MT-CO1):m.6505T>C4512MT-CO1Uncertain significance28371932RCV000853978; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M65056505M:g.6505T>C-
NC_012920.1(MT-CO1):m.6510G>A4512MT-CO1Likely benign1603220518RCV000853979; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M65106510M:g.6510G>A-
NC_012920.1(MT-CO1):m.6520T>C4512MT-CO1Uncertain significance1603220520RCV000853980; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M65206520M:g.6520T>C-
NC_012920.1(MT-CO1):m.6546C>T4512MT-CO1Benign1603220531RCV000853982; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M65466546M:g.6546C>T-
NC_012920.1(MT-CO1):m.6550A>G4512MT-CO1Uncertain significance1603220532RCV000853983; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M65506550M:g.6550A>G-
NC_012920.1(MT-CO1):m.6564G>A4512MT-CO1Uncertain significance1603220535RCV000853984; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M65646564M:g.6564G>A-
NC_012920.1(MT-CO1):m.6570G>T4512MT-CO1Benign386828988RCV000853985; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M65706570M:g.6570G>T-
NC_012920.1(MT-CO1):m.6642A>G4512MT-CO1Uncertain significance1603220559RCV000853986; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M66426642M:g.6642A>G-
NC_012920.1(MT-CO1):m.6663A>G4512MT-CO1Benign200784106RCV000853987; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M66636663M:g.6663A>G-
NC_012920.1(MT-CO1):m.6664T>C4512MT-CO1Uncertain significance1603220567RCV000853988; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M66646664M:g.6664T>C-
NC_012920.1(MT-CO1):m.6681T>C4512MT-CO1Likely benign879180101RCV000853989; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M66816681M:g.6681T>C-
NC_012920.1(MT-CO1):m.6709G>A4512MT-CO1Uncertain significance1603220583RCV000853990; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M67096709M:g.6709G>A-
NC_012920.1(MT-CO1):m.6712A>T4512MT-CO1Uncertain significance1603220586RCV000853991; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M67126712M:g.6712A>T-
NC_012920.1(MT-CO1):m.6714A>G4512MT-CO1Uncertain significance1603220588RCV000853992; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M67146714M:g.6714A>G-
NC_012920.1(MT-CO1):m.6723G>A4512MT-CO1Benign1603220595RCV000853993; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M67236723M:g.6723G>A-
NC_012920.1(MT-CO1):m.6747T>C4512MT-CO1Uncertain significance1603220609RCV000853994; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M67476747M:g.6747T>C-
NC_012920.1(MT-CO1):m.6748T>C4512MT-CO1Uncertain significance1556423171RCV000853995; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M67486748M:g.6748T>C-
NC_012920.1(MT-CO1):m.6756T>C4512MT-CO1Uncertain significance1603220617RCV000853996; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M67566756M:g.6756T>C-
NC_012920.1(MT-CO1):m.6781T>C4512MT-CO1Uncertain significance1603220626RCV000853997; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M67816781M:g.6781T>C-
NC_012920.1(MT-CO1):m.6844T>C4512MT-CO1Uncertain significance1603220647RCV000853998; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M68446844M:g.6844T>C-
NC_012920.1(MT-CO1):m.6852G>A4512MT-CO1Benign1603220651RCV000853999; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M68526852M:g.6852G>A-
NC_012920.1(MT-CO1):m.6855G>A4512MT-CO1Uncertain significance1603220653RCV000854000; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M68556855M:g.6855G>A-
NC_012920.1(MT-CO1):m.6856T>C4512MT-CO1Uncertain significance1603220654RCV000854001; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M68566856M:g.6856T>C-
NC_012920.1(MT-CO1):m.6868G>A4512MT-CO1Uncertain significance1603220657RCV000854002; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M68686868M:g.6868G>A-
NC_012920.1(MT-CO1):m.6876G>A4512MT-CO1Uncertain significance1603220659RCV000854003; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M68766876M:g.6876G>A-
NC_012920.1(MT-CO1):m.6891A>G4512MT-CO1Benign879091068RCV000854004; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M68916891M:g.6891A>G-
NC_012920.1(MT-CO1):m.6897A>G4512MT-CO1Uncertain significance1603220675RCV000854005; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M68976897M:g.6897A>G-
NC_012920.1(MT-CO1):m.6909G>A4512MT-CO1Uncertain significance1603220684RCV000854006; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M69096909M:g.6909G>A-
NC_012920.1(MT-CO1):m.6912G>A4512MT-CO1Uncertain significance1603220686RCV000854007; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M69126912M:g.6912G>A-
NC_012920.1(MT-CO1):m.6915G>A4512MT-CO1Benign1603220687RCV000854008; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M69156915M:g.6915G>A-
NC_012920.1(MT-CO1):m.6916T>C4512MT-CO1Uncertain significance1603220688RCV000854009; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M69166916M:g.6916T>C-
NC_012920.1(MT-CO1):m.6924G>A4512MT-CO1Uncertain significance1603220692RCV000854010; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M69246924M:g.6924G>A-
NC_012920.1(MT-CO1):m.6951G>A4512MT-CO1Likely benign1603220711RCV000854011|RCV000992345|RCV003319214; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M69516951M:g.6951G>A-
NC_012920.1(MT-CO1):m.6972G>C4512MT-CO1Uncertain significance1603220724RCV000854012; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M69726972M:g.6972G>C-
NC_012920.1(MT-CO1):m.6978G>A4512MT-CO1Uncertain significance28451817RCV000854013; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M69786978M:g.6978G>A-
NC_012920.1(MT-CO1):m.6987T>G4512MT-CO1Uncertain significance1603220727RCV000854014; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M69876987M:g.6987T>G-
NC_012920.1(MT-CO1):m.7015A>G4512MT-CO1Uncertain significance1603220734RCV000854015; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M70157015M:g.7015A>G-
NC_012920.1(MT-CO1):m.7020G>A4512MT-CO1Uncertain significance1603220735RCV000854016; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M70207020M:g.7020G>A-
NC_012920.1(MT-CO1):m.7032T>C4512MT-CO1Uncertain significance1603220739RCV000854017; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M70327032M:g.7032T>C-
NC_012920.1:m.7041G>A4512MT-CO1Uncertain significance1556423220RCV000509198|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 benign1603220749RCV000854019; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M70517051M:g.7051T>C-
NC_012920.1(MT-CO1):m.7053G>A4512MT-CO1Uncertain significance1603220753RCV000854020; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M70537053M:g.7053G>A-
NC_012920.1(MT-CO1):m.7077G>A4512MT-CO1Uncertain significance1603220764RCV000854021; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M70777077M:g.7077G>A-
NC_012920.1(MT-CO1):m.7080T>C4512MT-CO1Benign1556423226RCV000854022; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M70807080M:g.7080T>C-
NC_012920.1(MT-CO1):m.7083A>G4512MT-CO1Likely benign1603220768RCV000854023; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M70837083M:g.7083A>G-
NC_012920.1(MT-CO1):m.7084T>C4512MT-CO1Uncertain significance28445709RCV000854024; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M70847084M:g.7084T>C-
NC_012920.1(MT-CO1):m.7119G>A4512MT-CO1Benign1556423235RCV000854025; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71197119M:g.7119G>A-
NC_012920.1(MT-CO1):m.7125A>G4512MT-CO1Uncertain significance1603220786RCV000854026; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71257125M:g.7125A>G-
NC_012920.1(MT-CO1):m.7129A>G4512MT-CO1Likely benign1603220788RCV000854027; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71297129M:g.7129A>G-
NC_012920.1(MT-CO1):m.7138T>C4512MT-CO1Uncertain significance1603220794RCV000854028; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71387138M:g.7138T>C-
NC_012920.1(MT-CO1):m.7146A>G4512MT-CO1Benign372136420RCV000854029; 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 significance1603220799RCV000854031; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71477147M:g.7147C>T-
NC_012920.1(MT-CO1):m.7149A>G4512MT-CO1Likely benign1603220802RCV000854032; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71497149M:g.7149A>G-
NC_012920.1(MT-CO1):m.7150T>C4512MT-CO1Benign1603220803RCV000854033; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71507150M:g.7150T>C-
NC_012920.1(MT-CO1):m.7153T>C4512MT-CO1Uncertain significance1603220805RCV000854034; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71537153M:g.7153T>C-
NC_012920.1(MT-CO1):m.7155T>C4512MT-CO1Uncertain significance1603220808RCV000854035; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71557155M:g.7155T>C-
NC_012920.1(MT-CO1):m.7158A>C4512MT-CO1Likely benign878887002RCV000854037; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71587158M:g.7158A>C-
NC_012920.1(MT-CO1):m.7158A>G4512MT-CO1Benign878887002RCV000854036; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71587158M:g.7158A>G-
NC_012920.1(MT-CO1):m.7159T>C4512MT-CO1Likely benign3929989RCV000854038; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71597159M:g.7159T>C-
NC_012920.1(MT-CO1):m.7168A>G4512MT-CO1Uncertain significance1603220812RCV000854039; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71687168M:g.7168A>G-
NC_012920.1(MT-CO1):m.7187A>T4512MT-CO1Uncertain significance1603220823RCV000854040; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M71877187M:g.7187A>T-
NC_012920.1(MT-CO1):m.7191T>C4512MT-CO1Likely benign1603220824RCV000854041|RCV001824895; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202M71917191M:g.7191T>C-
NC_012920.1(MT-CO1):m.7233C>T4512MT-CO1Uncertain significance1603220839RCV000854043; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72337233M:g.7233C>T-
NC_012920.1(MT-CO1):m.7245A>G4512MT-CO1Benign1556423253RCV000854044; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72457245M:g.7245A>G-
NC_012920.1(MT-CO1):m.7249C>T4512MT-CO1Uncertain significance1603220851RCV000854045; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72497249M:g.7249C>T-
NC_012920.1(MT-CO1):m.7257A>G4512MT-CO1Benign1603220854RCV000854046; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72577257M:g.7257A>G-
NC_012920.1(MT-CO1):m.7258T>C4512MT-CO1Benign1556423260RCV000854047; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72587258M:g.7258T>C-
NC_012920.1(MT-CO1):m.7269G>A4512MT-CO1Benign386829004RCV000854048; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72697269M:g.7269G>A-
NC_012920.1(MT-CO1):m.7270T>C4512MT-CO1Benign879002867RCV000854049; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72707270M:g.7270T>C-
NC_012920.1(MT-CO1):m.7272G>A4512MT-CO1Uncertain significance28415137RCV000854050; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72727272M:g.7272G>A-
NC_012920.1(MT-CO1):m.7278T>C4512MT-CO1Benign1556423264RCV000854051; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72787278M:g.7278T>C-
NC_012920.1(MT-CO1):m.7279T>C4512MT-CO1Uncertain significance1603220861RCV000854052; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72797279M:g.7279T>C-
NC_012920.1(MT-CO1):m.7284T>G4512MT-CO1Uncertain significance1603220868RCV000854053; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72847284M:g.7284T>G-
NC_012920.1(MT-CO1):m.7290A>G4512MT-CO1Uncertain significance1603220870RCV000854054; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72907290M:g.7290A>G-
NC_012920.1(MT-CO1):m.7299A>G4512MT-CO1Benign879071265RCV000854055; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M72997299M:g.7299A>G-
NC_012920.1(MT-CO1):m.7300T>C4512MT-CO1Uncertain significance1603220877RCV000854056; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73007300M:g.7300T>C-
NC_012920.1(MT-CO1):m.7309T>C4512MT-CO1Benign1556423267RCV000854057; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73097309M:g.7309T>C-
NC_012920.1(MT-CO1):m.7332G>A4512MT-CO1Uncertain significance1603220889RCV000854058; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73327332M:g.7332G>A-
NC_012920.1(MT-CO1):m.7347G>A4512MT-CO1Uncertain significance1603220894RCV000854059; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73477347M:g.7347G>A-
NC_012920.1(MT-CO1):m.7356G>A4512MT-CO1Benign1556423271RCV000854060; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73567356M:g.7356G>A-
NC_012920.1(MT-CO1):m.7357T>C4512MT-CO1Uncertain significance1603220914RCV000854061; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73577357M:g.7357T>C-
NC_012920.1(MT-CO1):m.7362G>A4512MT-CO1Uncertain significance1603220917RCV000854062; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73627362M:g.7362G>A-
NC_012920.1(MT-CO1):m.7363A>G4512MT-CO1Likely benign1603220918RCV000854063; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73637363M:g.7363A>G-
NC_012920.1(MT-CO1):m.7365C>A4512MT-CO1Uncertain significance1603220919RCV000854064; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73657365M:g.7365C>A-
NC_012920.1(MT-CO1):m.7374A>G4512MT-CO1Uncertain significance1603220927RCV000854065; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73747374M:g.7374A>G-
NC_012920.1(MT-CO1):m.7389T>C4512MT-CO1Benign9783095RCV000854066; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M73897389M:g.7389T>C-
NC_012920.1(MT-CO1):m.7408A>G4512MT-CO1Uncertain significance1603220949RCV000854067; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M74087408M:g.7408A>G-
NC_012920.1(MT-CO1):m.7419G>A4512MT-CO1Benign1603220951RCV000854068; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M74197419M:g.7419G>A-
NC_012920.1(MT-CO1):m.7431T>C4512MT-CO1Uncertain significance1603220957RCV000854069; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M74317431M:g.7431T>C-
NC_012920.1(MT-CO1):m.7432A>T4512MT-CO1Likely benign1603220958RCV000854070; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M74327432M:g.7432A>T-
NC_012920.1(MT-CO1):m.7440T>C4512MT-CO1Uncertain significance1603220962RCV000854071; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M74407440M:g.7440T>C-
NC_012920.1(MT-CO1):m.7440T>G4512MT-CO1Uncertain significance1603220962RCV000854072; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M74407440M:g.7440T>G-
NC_012920.1(MT-CO2):m.7598G>A4513MT-CO2Benign386420012RCV000854074; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M75987598M:g.7598G>A-
NC_012920.1(MT-CO2):m.7604G>A4513MT-CO2Benign1603221034RCV000854075; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76047604M:g.7604G>A-
NC_012920.1(MT-CO2):m.7608G>A4513MT-CO2Uncertain significance1603221035RCV000854076; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76087608M:g.7608G>A-
NC_012920.1(MT-CO2):m.7628C>A4513MT-CO2Uncertain significance1603221045RCV000854077; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76287628M:g.7628C>A-
NC_012920.1(MT-CO2):m.7632T>C4513MT-CO2Uncertain significance1603221049RCV000854078; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76327632M:g.7632T>C-
NC_012920.1(MT-CO2):m.7637G>A4513MT-CO2Uncertain significance1556423314RCV000506977|RCV000854079|RCV003319204; NMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M76377637M:g.7637G>AClinGen:CA414793083CN169374 not specified;
NC_012920.1(MT-CO2):m.7649A>G4513MT-CO2Likely benign1603221060RCV000854080; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76497649M:g.7649A>G-
NC_012920.1(MT-CO2):m.7650C>T4513MT-CO2Uncertain significance1603221063RCV000854081; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76507650M:g.7650C>T-
NC_012920.1(MT-CO2):m.7664G>A4513MT-CO2Benign879139393RCV000854083; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76647664M:g.7664G>A-
NC_012920.1(MT-CO2):m.7664G>T4513MT-CO2Uncertain significance879139393RCV000854082; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76647664M:g.7664G>T-
NC_012920.1(MT-CO2):m.7673A>G4513MT-CO2Benign1569484167RCV000854084; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76737673M:g.7673A>G-
NC_012920.1(MT-CO2):m.7674T>C4513MT-CO2Likely benign1569484168RCV000854085|RCV001787119; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202M76747674M:g.7674T>C-
NC_012920.1(MT-CO2):m.7679T>C4513MT-CO2Benign879003775RCV000854086; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76797679M:g.7679T>C-
NC_012920.1(MT-CO2):m.7686T>C4513MT-CO2Uncertain significance1603221081RCV000854087; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76867686M:g.7686T>C-
NC_012920.1(MT-CO2):m.7691T>C4513MT-CO2Benign1603221084RCV000854088; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76917691M:g.7691T>C-
NC_012920.1(MT-CO2):m.7697G>A4513MT-CO2Benign879212765RCV000854089; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76977697M:g.7697G>A-
NC_012920.1(MT-CO2):m.7698T>C4513MT-CO2Uncertain significance1603221090RCV000854090; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M76987698M:g.7698T>C-
NC_012920.1(MT-CO2):m.7706G>A4513MT-CO2Uncertain significance1556423333RCV000854091; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77067706M:g.7706G>A-
NC_012920.1(MT-CO2):m.7713T>C4513MT-CO2Uncertain significance1603221099RCV000854092; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77137713M:g.7713T>C-
NC_012920.1(MT-CO2):m.7718A>G4513MT-CO2Uncertain significance1556423337RCV000854093; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77187718M:g.7718A>G-
NC_012920.1(MT-CO2):m.7724A>T4513MT-CO2Uncertain significance1553139599RCV000854094|RCV000992350|RCV003319215; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M77247724M:g.7724A>T-
NC_012920.1(MT-CO2):m.7746A>G4513MT-CO2Conflicting interpretations of pathogenicity1603221113RCV000854095|RCV000992351; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202M77467746M:g.7746A>G-
NC_012920.1(MT-CO2):m.7751T>G4513MT-CO2Uncertain significance1603221115RCV000854096; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77517751M:g.7751T>G-
NC_012920.1(MT-CO2):m.7754G>A4513MT-CO2Benign1556423339RCV000854097; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77547754M:g.7754G>A-
NC_012920.1(MT-CO2):m.7757G>A4513MT-CO2Benign1603221120RCV000854098; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77577757M:g.7757G>A-
NC_012920.1(MT-CO2):m.7761A>G4513MT-CO2Likely benign1603221122RCV000854099; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77617761M:g.7761A>G-
NC_012920.1(MT-CO2):m.7772A>G4513MT-CO2Likely benign1603221127RCV000854100; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77727772M:g.7772A>G-
NC_012920.1(MT-CO2):m.7775G>A4513MT-CO2Benign1556423347RCV000854101; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77757775M:g.7775G>A-
NC_012920.1(MT-CO2):m.7784A>G4513MT-CO2Likely benign1556423348RCV000854102; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77847784M:g.7784A>G-
NC_012920.1(MT-CO2):m.7785T>C4513MT-CO2Likely benign1603221138RCV000854103; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77857785M:g.7785T>C-
NC_012920.1(MT-CO2):m.7796A>G4513MT-CO2Likely benign1603221141RCV000854104; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77967796M:g.7796A>G-
NC_012920.1(MT-CO2):m.7797T>C4513MT-CO2Likely benign1603221143RCV000854105; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M77977797M:g.7797T>C-
NC_012920.1(MT-CO2):m.7805G>A4513MT-CO2Benign879119797RCV000854106; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78057805M:g.7805G>A-
NC_012920.1(MT-CO2):m.7806T>C4513MT-CO2Uncertain significance1603221147RCV000854107; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78067806M:g.7806T>C-
NC_012920.1(MT-CO2):m.7808C>T4513MT-CO2Likely benign1603221148RCV000854108; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78087808M:g.7808C>T-
NC_012920.1(MT-CO2):m.7811A>G4513MT-CO2Uncertain significance1603221152RCV000854109; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78117811M:g.7811A>G-
NC_012920.1(MT-CO2):m.7814G>A4513MT-CO2Uncertain significance1603221156RCV000854110; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78147814M:g.7814G>A-
NC_012920.1(MT-CO2):m.7830G>A4513MT-CO2Benign878897170RCV000854111; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78307830M:g.7830G>A-
NC_012920.1(MT-CO2):m.7833T>C4513MT-CO2Uncertain significance1603221169RCV000854112; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78337833M:g.7833T>C-
NC_012920.1(MT-CO2):m.7844A>G4513MT-CO2Benign1556423353RCV000854114; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78447844M:g.7844A>G-
NC_012920.1(MT-CO2):m.7844A>T4513MT-CO2Uncertain significance1556423353RCV000854113; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78447844M:g.7844A>T-
NC_012920.1(MT-CO2):m.7853G>A4513MT-CO2Benign386420037RCV000854115; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78537853M:g.7853G>A-
NC_012920.1(MT-CO2):m.7854T>C4513MT-CO2Benign1603221180RCV000854116; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78547854M:g.7854T>C-
NC_012920.1(MT-CO2):m.7859G>A4513MT-CO2Benign373105186RCV000854117; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78597859M:g.7859G>A-
NC_012920.1(MT-CO2):m.7868C>T4513MT-CO2Uncertain significance1556423357RCV000854118; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78687868M:g.7868C>T-
NC_012920.1(MT-CO2):m.7874A>G4513MT-CO2Uncertain significance1603221191RCV000854119; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78747874M:g.7874A>G-
NC_012920.1(MT-CO2):m.7898T>C4513MT-CO2Uncertain significance1603221199RCV000854120; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M78987898M:g.7898T>C-
NC_012920.1(MT-CO2):m.7904A>G4513MT-CO2Uncertain significance1603221201RCV000854121; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79047904M:g.7904A>G-
NC_012920.1(MT-CO2):m.7919G>A4513MT-CO2Uncertain significance1603221212RCV000854122; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79197919M:g.7919G>A-
NC_012920.1(MT-CO2):m.7922T>C4513MT-CO2Uncertain significance1556423362RCV000854123; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79227922M:g.7922T>C-
NC_012920.1(MT-CO2):m.7925G>A4513MT-CO2Uncertain significance1603221215RCV000854124|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 significance1603221217RCV000854125; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79267926M:g.7926G>A-
NC_012920.1(MT-CO2):m.7929G>A4513MT-CO2Uncertain significance-1RCV003233003; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79297929-
NC_012920.1(MT-CO2):m.7934A>G4513MT-CO2Benign374261450RCV000854126; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79347934M:g.7934A>G-
NC_012920.1(MT-CO2):m.7941A>G4513MT-CO2Likely benign1603221223RCV000854127; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79417941M:g.7941A>G-
NC_012920.1(MT-CO2):m.7943T>C4513MT-CO2Uncertain significance1603221224RCV000854128; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79437943M:g.7943T>C-
NC_012920.1(MT-CO2):m.7962T>C4513MT-CO2Uncertain significance1603221233RCV000854129; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79627962M:g.7962T>C-
NC_012920.1(MT-CO2):m.7964T>C4513MT-CO2Benign1556423367RCV000854130; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79647964M:g.7964T>C-
NC_012920.1(MT-CO2):m.7976G>A4513MT-CO2Uncertain significance377368526RCV000854131; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79767976M:g.7976G>A-
NC_012920.1(MT-CO2):m.7980A>G4513MT-CO2Uncertain significance1603221241RCV000854132; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M79807980M:g.7980A>G-
NC_012920.1(MT-CO2):m.8001A>G4513MT-CO2Uncertain significance1603221247RCV000854133; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80018001M:g.8001A>G-
NC_012920.1(MT-CO2):m.8010T>C4513MT-CO2Uncertain significance1603221254RCV000854134; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80108010M:g.8010T>C-
NC_012920.1(MT-CO2):m.8012G>A4513MT-CO2Uncertain significance1603221258RCV000854135; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80128012M:g.8012G>A-
NC_012920.1(MT-CO2):m.8021A>G4513MT-CO2Likely benign1603221261RCV000854136; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80218021M:g.8021A>G-
NC_012920.1(MT-CO2):m.8022T>C4513MT-CO2Benign1556423376RCV000854137; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80228022M:g.8022T>C-
NC_012920.1(MT-CO2):m.8026A>T4513MT-CO2Benign1603221263RCV000854138; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80268026M:g.8026A>T-
NC_012920.1(MT-CO2):m.8027G>A4513MT-CO2Benign1116904RCV000854139; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80278027M:g.8027G>A-
NC_012920.1(MT-CO2):m.8030C>T4513MT-CO2Uncertain significance1603221266RCV000854140; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80308030M:g.8030C>T-
NC_012920.1(MT-CO2):m.8033A>G4513MT-CO2Uncertain significance1603221267RCV000854141; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80338033M:g.8033A>G-
NC_012920.1(MT-CO2):m.8060G>A4513MT-CO2Uncertain significance1603221271RCV000854142; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80608060M:g.8060G>A-
NC_012920.1(MT-CO2):m.8069T>C4513MT-CO2Uncertain significance1603221275RCV000854143; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80698069M:g.8069T>C-
NC_012920.1(MT-CO2):m.8075G>A4513MT-CO2Likely benign386829024RCV000854144; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80758075M:g.8075G>A-
NC_012920.1(MT-CO2):m.8078G>A4513MT-CO2Likely benign878993263RCV000854145; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80788078M:g.8078G>A-
NC_012920.1(MT-CO2):m.8079T>C4513MT-CO2Uncertain significance1603221279RCV000854146; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80798079M:g.8079T>C-
NC_012920.1:m.8084A>G4513MT-CO2Likely benign1057518824RCV000414851|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 benign1057518824RCV000854148; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M80848084M:g.8084A>T-
NC_012920.1(MT-CO2):m.8108A>G4513MT-CO2Benign1603221288RCV000854149; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M81088108M:g.8108A>G-
NC_012920.1(MT-CO2):m.8135T>C4513MT-CO2Uncertain significance1603221304RCV000854150; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M81358135M:g.8135T>C-
NC_012920.1(MT-CO2):m.8141G>A4513MT-CO2Uncertain significance1603221309RCV000854151; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M81418141M:g.8141G>A-
NC_012920.1(MT-CO2):m.8187G>A4513MT-CO2Uncertain significance1603221319RCV000854152; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M81878187M:g.8187G>A-
NC_012920.1(MT-CO2):m.8210A>G4513MT-CO2Uncertain significance1603221330RCV000854153; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M82108210M:g.8210A>G-
NC_012920.1(MT-CO2):m.8225A>G4513MT-CO2Uncertain significance1603221335RCV000854154; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M82258225M:g.8225A>G-
NC_012920.1(MT-CO2):m.8237A>G4513MT-CO2Benign1603221342RCV000854155; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M82378237M:g.8237A>G-
NC_012920.1(MT-CO2):m.8238T>C4513MT-CO2Uncertain significance1603221344RCV000854156; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M82388238M:g.8238T>C-
NC_012920.1(MT-CO2):m.8252C>T4513MT-CO2Uncertain significance1603221351RCV000854157; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M82528252M:g.8252C>T-
NC_012920.1(MT-CO2):m.8256T>C4513MT-CO2Likely benign1603221354RCV000854158; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M82568256M:g.8256T>C-
NC_012920.1(MT-CO2):m.8258T>C4513MT-CO2Likely benign1603221357RCV000854159; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M82588258M:g.8258T>C-
NC_012920.1(MT-CO2):m.8265T>C4513MT-CO2Uncertain significance1603221364RCV000854160; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M82658265M:g.8265T>C-
m.9537dupC4514MT-CO3Pathogenic267606614RCV000010292|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.9210A>G4514MT-CO3Benign1556423633RCV000854476; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92109210M:g.9210A>G-
NC_012920.1(MT-CO3):m.9211C>T4514MT-CO3Benign1603222177RCV000854477; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92119211M:g.9211C>T-
NC_012920.1(MT-CO3):m.9214A>G4514MT-CO3Likely benign1556423637RCV000854478; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92149214M:g.9214A>G-
NC_012920.1(MT-CO3):m.9217A>G4514MT-CO3Uncertain significance1603222182RCV000854479; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92179217M:g.9217A>G-
NC_012920.1(MT-CO3):m.9219T>G4514MT-CO3Uncertain significance1603222184RCV000854480; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92199219M:g.9219T>G-
NC_012920.1(MT-CO3):m.9234A>G4514MT-CO3Likely benign1603222190RCV000854481; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92349234M:g.9234A>G-
NC_012920.1(MT-CO3):m.9247G>A4514MT-CO3Uncertain significance1553140066RCV000854482; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92479247M:g.9247G>A-
NC_012920.1(MT-CO3):m.9261A>G4514MT-CO3Uncertain significance1603222202RCV000854483; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92619261M:g.9261A>G-
NC_012920.1(MT-CO3):m.9265G>A4514MT-CO3Uncertain significance1556423649RCV000854484; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92659265M:g.9265G>A-
NC_012920.1(MT-CO3):m.9267G>A4514MT-CO3Uncertain significance1556423650RCV000854485; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92679267M:g.9267G>A-
NC_012920.1(MT-CO3):m.9270C>T4514MT-CO3Likely benign1603222205RCV000854486; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92709270M:g.9270C>T-
NC_012920.1(MT-CO3):m.9276G>A4514MT-CO3Likely benign1603222209RCV000854487; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92769276M:g.9276G>A-
NC_012920.1(MT-CO3):m.9285A>G4514MT-CO3Likely benign1603222213RCV000854488; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92859285M:g.9285A>G-
NC_012920.1(MT-CO3):m.9286T>C4514MT-CO3Likely benign1603222214RCV000854489; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92869286M:g.9286T>C-
NC_012920.1(MT-CO3):m.9288A>G4514MT-CO3Benign1603222218RCV000854490; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92889288M:g.9288A>G-
NC_012920.1(MT-CO3):m.9294G>A4514MT-CO3Uncertain significance1603222222RCV000854491; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M92949294M:g.9294G>A-
NC_012920.1(MT-CO3):m.9300G>A4514MT-CO3Benign371745772RCV000854492; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93009300M:g.9300G>A-
NC_012920.1(MT-CO3):m.9301C>T4514MT-CO3Likely benign1603222227RCV000854493; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93019301M:g.9301C>T-
NC_012920.1(MT-CO3):m.9304T>C4514MT-CO3Uncertain significance1603222232RCV000854494; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93049304M:g.9304T>C-
NC_012920.1(MT-CO3):m.9309T>C4514MT-CO3Uncertain significance1603222236RCV000854495; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93099309M:g.9309T>C-
NC_012920.1(MT-CO3):m.9316T>C4514MT-CO3Benign1603222240RCV000854496; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93169316M:g.9316T>C-
NC_012920.1(MT-CO3):m.9319A>G4514MT-CO3Uncertain significance1603222243RCV000854497; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93199319M:g.9319A>G-
NC_012920.1(MT-CO3):m.9324A>G4514MT-CO3Benign1603222245RCV000854498; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93249324M:g.9324A>G-
NC_012920.1(MT-CO3):m.9325T>C4514MT-CO3Benign879000531RCV000854499; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93259325M:g.9325T>C-
NC_012920.1(MT-CO3):m.9327A>C4514MT-CO3Uncertain significance1603222247RCV000854500; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93279327M:g.9327A>C-
NC_012920.1(MT-CO3):m.9327A>G4514MT-CO3Likely benign1603222247RCV000854501; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93279327M:g.9327A>G-
NC_012920.1(MT-CO3):m.9331T>C4514MT-CO3Uncertain significance1603222252RCV000854502; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93319331M:g.9331T>C-
NC_012920.1(MT-CO3):m.9336A>G4514MT-CO3Benign28474779RCV000854503; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93369336M:g.9336A>G-
NC_012920.1(MT-CO3):m.9337T>C4514MT-CO3Benign1603222256RCV000854504; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93379337M:g.9337T>C-
NC_012920.1(MT-CO3):m.9342G>A4514MT-CO3Uncertain significance28672157RCV000854505; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93429342M:g.9342G>A-
NC_012920.1(MT-CO3):m.9355A>G4514MT-CO3Benign1556423663RCV000854506; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93559355M:g.9355A>G-
NC_012920.1(MT-CO3):m.9357A>G4514MT-CO3Uncertain significance1603222269RCV000854507; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93579357M:g.9357A>G-
NC_012920.1(MT-CO3):m.9367T>C4514MT-CO3Uncertain significance1603222274RCV000854508; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93679367M:g.9367T>C-
NC_012920.1(MT-CO3):m.9387G>A4514MT-CO3Uncertain significance1603222285RCV000854510; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93879387M:g.9387G>A-
NC_012920.1(MT-CO3):m.9390A>G4514MT-CO3Uncertain significance1603222288RCV000854511; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93909390M:g.9390A>G-
NC_012920.1(MT-CO3):m.9391C>T4514MT-CO3Benign1556423673RCV000854512; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M93919391M:g.9391C>T-
NC_012920.1(MT-CO3):m.9405T>C4514MT-CO3Uncertain significance1603222294RCV000854513; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94059405M:g.9405T>C-
m.9438G>A4514MT-CO3Benign267606611RCV000010286|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 significance1603222309RCV000854515; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94399439M:g.9439G>A-
NC_012920.1(MT-CO3):m.9445G>A4514MT-CO3Uncertain significance1603222311RCV000854516; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94459445M:g.9445G>A-
NC_012920.1(MT-CO3):m.9448A>G4514MT-CO3Benign1603222312RCV000854517; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94489448M:g.9448A>G-
NC_012920.1(MT-CO3):m.9456A>C4514MT-CO3Uncertain significance1603222315RCV000854519; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94569456M:g.9456A>C-
NC_012920.1(MT-CO3):m.9456A>G4514MT-CO3Likely benign1603222315RCV000854518; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94569456M:g.9456A>G-
NC_012920.1(MT-CO3):m.9468A>G4514MT-CO3Benign879015841RCV000854520; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94689468M:g.9468A>G-
NC_012920.1(MT-CO3):m.9469C>T4514MT-CO3Benign1603222325RCV000854521; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94699469M:g.9469C>T-
NC_012920.1(MT-CO3):m.9477G>A4514MT-CO3Benign2853825RCV000854522; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94779477M:g.9477G>A-
NC_012920.1(MT-CO3):m.9477G>C4514MT-CO3Uncertain significance2853825RCV000854523; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94779477M:g.9477G>C-
NC_012920.1:m.9478T>C4514MT-CO3Uncertain significance587776437RCV000144007|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 significance587776437RCV000854524; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94789478M:g.9478T>G-
NC_012920.1(MT-CO3):m.9480T>C4514MT-CO3Uncertain significance1603222335RCV000854525; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94809480M:g.9480T>C-
NC_012920.1(MT-CO3):m.9481T>C4514MT-CO3Uncertain significance1603222339RCV000854526; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94819481M:g.9481T>C-
NC_012920.1(MT-CO3):m.9484T>C4514MT-CO3Uncertain significance1603222342RCV000854527; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94849484M:g.9484T>C-
NC_012920.1(MT-CO3):m.9489G>A4514MT-CO3Likely benign1603222343RCV000854528; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94899489M:g.9489G>A-
NC_012920.1(MT-CO3):m.9490C>T4514MT-CO3Likely benign1603222345RCV000854529; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94909490M:g.9490C>T-
NC_012920.1(MT-CO3):m.9495T>C4514MT-CO3Benign1556423681RCV000854530; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M94959495M:g.9495T>C-
NC_012920.1(MT-CO3):m.9508T>A4514MT-CO3Uncertain significance1603222350RCV000854531; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95089508M:g.9508T>A-
NC_012920.1(MT-CO3):m.9525G>A4514MT-CO3Likely benign878977410RCV000854532; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95259525M:g.9525G>A-
NC_012920.1(MT-CO3):m.9531A>G4514MT-CO3Benign386829082RCV000854533; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95319531M:g.9531A>G-
NC_012920.1(MT-CO3):m.9549C>T4514MT-CO3Uncertain significance1603222370RCV000854534|RCV001196724; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|M95499549M:g.9549C>T-
NC_012920.1(MT-CO3):m.9564G>A4514MT-CO3Uncertain significance1603222373RCV000854535; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95649564M:g.9564G>A-
NC_012920.1(MT-CO3):m.9571C>T4514MT-CO3Likely benign1603222374RCV000854536; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95719571M:g.9571C>T-
NC_012920.1(MT-CO3):m.9577T>C4514MT-CO3Uncertain significance386829086RCV000854537; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95779577M:g.9577T>C-
NC_012920.1(MT-CO3):m.9580A>C4514MT-CO3Uncertain significance1603222379RCV000854538; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95809580M:g.9580A>C-
NC_012920.1(MT-CO3):m.9582C>T4514MT-CO3Uncertain significance1603222382RCV000854539; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95829582M:g.9582C>T-
NC_012920.1(MT-CO3):m.9588G>A4514MT-CO3Uncertain significance1603222385RCV000854540; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95889588M:g.9588G>A-
NC_012920.1(MT-CO3):m.9591G>A4514MT-CO3Benign878949273RCV000854541; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95919591M:g.9591G>A-
NC_012920.1(MT-CO3):m.9592T>C4514MT-CO3Likely benign1603222390RCV000854542; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M95929592M:g.9592T>C-
NC_012920.1(MT-CO3):m.9604A>G4514MT-CO3Benign1556423697RCV000854543; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96049604M:g.9604A>G-
NC_012920.1(MT-CO3):m.9612G>A4514MT-CO3Benign1603222398RCV000854544; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96129612M:g.9612G>A-
NC_012920.1(MT-CO3):m.9621G>A4514MT-CO3Benign1603222400RCV000854545; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96219621M:g.9621G>A-
NC_012920.1(MT-CO3):m.9630G>A4514MT-CO3Likely benign1603222403RCV000854546; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96309630M:g.9630G>A-
NC_012920.1(MT-CO3):m.9631T>C4514MT-CO3Uncertain significance1603222406RCV000854547; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96319631M:g.9631T>C-
NC_012920.1(MT-CO3):m.9633T>C4514MT-CO3Likely benign1603222407RCV000854548; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96339633M:g.9633T>C-
NC_012920.1(MT-CO3):m.9636A>G4514MT-CO3Uncertain significance1603222411RCV000854549; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96369636M:g.9636A>G-
NC_012920.1(MT-CO3):m.9637T>C4514MT-CO3Uncertain significance1603222412RCV000854550; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96379637M:g.9637T>C-
NC_012920.1(MT-CO3):m.9652A>G4514MT-CO3Uncertain significance1603222415RCV000854551; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96529652M:g.9652A>G-
NC_012920.1(MT-CO3):m.9654A>G4514MT-CO3Uncertain significance1603222419RCV000854552; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96549654M:g.9654A>G-
NC_012920.1(MT-CO3):m.9660A>G4514MT-CO3Likely benign1603222423RCV000854553; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96609660M:g.9660A>G-
NC_012920.1(MT-CO3):m.9663G>A4514MT-CO3Likely benign1603222427RCV000854554; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96639663M:g.9663G>A-
NC_012920.1(MT-CO3):m.9664A>G4514MT-CO3Benign1603222429RCV000854555; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96649664M:g.9664A>G-
NC_012920.1(MT-CO3):m.9667A>G4514MT-CO3Benign41482146RCV000854556; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96679667M:g.9667A>G-
NC_012920.1(MT-CO3):m.9670A>G4514MT-CO3Benign1556423709RCV000854557; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96709670M:g.9670A>G-
NC_012920.1(MT-CO3):m.9682T>C4514MT-CO3Benign199750417RCV000854558; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96829682M:g.9682T>C-
NC_012920.1(MT-CO3):m.9685T>C4514MT-CO3Uncertain significance1556423710RCV000854559; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96859685M:g.9685T>C-
NC_012920.1(MT-CO3):m.9699A>G4514MT-CO3Uncertain significance1603222436RCV000854560; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M96999699M:g.9699A>G-
NC_012920.1(MT-CO3):m.9700T>C4514MT-CO3Uncertain significance1603222437RCV000854561|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 significance1603222440RCV000854562; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97059705M:g.9705A>G-
NC_012920.1(MT-CO3):m.9706T>C4514MT-CO3Uncertain significance1603222441RCV000854563; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97069706M:g.9706T>C-
NC_012920.1(MT-CO3):m.9717C>T4514MT-CO3Likely benign1603222453RCV000854564; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97179717M:g.9717C>T-
NC_012920.1(MT-CO3):m.9727C>T4514MT-CO3Likely benign1603222461RCV000854565; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97279727M:g.9727C>T-
NC_012920.1(MT-CO3):m.9738G>A4514MT-CO3Benign1556423714RCV000854566; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97389738M:g.9738G>A-
NC_012920.1(MT-CO3):m.9739C>T4514MT-CO3Likely benign879159866RCV000854567; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97399739M:g.9739C>T-
NC_012920.1(MT-CO3):m.9751T>C4514MT-CO3Likely benign1603222471RCV000854568; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97519751M:g.9751T>C-
NC_012920.1(MT-CO3):m.9751T>G4514MT-CO3Uncertain significance1603222471RCV000854569; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97519751M:g.9751T>G-
NC_012920.1(MT-CO3):m.9752C>A4514MT-CO3Uncertain significance1569484321RCV000854570; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97529752M:g.9752C>A-
NC_012920.1(MT-CO3):m.9753G>A4514MT-CO3Uncertain significance1569484322RCV000854571; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97539753M:g.9753G>A-
NC_012920.1(MT-CO3):m.9753G>C4514MT-CO3Uncertain significance1569484322RCV000854572; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97539753M:g.9753G>C-
NC_012920.1(MT-CO3):m.9754A>G4514MT-CO3Likely benign1603222476RCV000854573; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97549754M:g.9754A>G-
NC_012920.1(MT-CO3):m.9756T>G4514MT-CO3Benign1603222480RCV000854574; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97569756M:g.9756T>G-
NC_012920.1(MT-CO3):m.9759C>T4514MT-CO3Likely benign1603222483RCV000854575; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97599759M:g.9759C>T-
NC_012920.1(MT-CO3):m.9765A>G4514MT-CO3Uncertain significance1603222489RCV000854576; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97659765M:g.9765A>G-
NC_012920.1(MT-CO3):m.9769T>C4514MT-CO3Uncertain significance1603222494RCV000854577; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97699769M:g.9769T>C-
NC_012920.1(MT-CO3):m.9777G>A4514MT-CO3Benign1556423722RCV000854578; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97779777M:g.9777G>A-
NC_012920.1(MT-CO3):m.9786G>A4514MT-CO3Uncertain significance1603222499RCV000854579; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M97869786M:g.9786G>A-
NC_012920.1(MT-CO3):m.9801G>A4514MT-CO3Benign1556423726RCV000854580; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98019801M:g.9801G>A-
NC_012920.1(MT-CO3):m.9802T>C4514MT-CO3Uncertain significance1603222502RCV000854581; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98029802M:g.9802T>C-
m.9804G>A4514MT-CO3Conflicting interpretations of pathogenicity200613617RCV000010287|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 significance200613617RCV000854583; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98049804M:g.9804G>C-
NC_012920.1(MT-CO3):m.9804G>T4514MT-CO3Uncertain significance200613617RCV000854584; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98049804M:g.9804G>T-
NC_012920.1(MT-CO3):m.9813T>C4514MT-CO3Uncertain significance1556423727RCV000854585; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98139813M:g.9813T>C-
NC_012920.1(MT-CO3):m.9819G>A4514MT-CO3Uncertain significance1603222512RCV000854586; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98199819M:g.9819G>A-
NC_012920.1(MT-CO3):m.9820G>A4514MT-CO3Uncertain significance1603222513RCV000854587; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98209820M:g.9820G>A-
NC_012920.1(MT-CO3):m.9822C>T4514MT-CO3Uncertain significance1556423729RCV000854588; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98229822M:g.9822C>T-
NC_012920.1(MT-CO3):m.9828G>A4514MT-CO3Uncertain significance1603222521RCV000854589; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98289828M:g.9828G>A-
NC_012920.1(MT-CO3):m.9837G>A4514MT-CO3Uncertain significance1603222528RCV000854590; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98379837M:g.9837G>A-
NC_012920.1(MT-CO3):m.9838G>A4514MT-CO3Uncertain significance1603222533RCV000854591; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98389838M:g.9838G>A-
NC_012920.1(MT-CO3):m.9843A>G4514MT-CO3Likely benign1603222537RCV000854592; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98439843M:g.9843A>G-
NC_012920.1(MT-CO3):m.9844C>T4514MT-CO3Uncertain significance1603222540RCV000854593; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98449844M:g.9844C>T-
NC_012920.1(MT-CO3):m.9852A>G4514MT-CO3Benign1603222544RCV000854594; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98529852M:g.9852A>G-
NC_012920.1(MT-CO3):m.9855A>G4514MT-CO3Benign201552272RCV000854595; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98559855M:g.9855A>G-
NC_012920.1(MT-CO3):m.9856T>C4514MT-CO3Likely benign1603222553RCV000854596; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98569856M:g.9856T>C-
NC_012920.1(MT-CO3):m.9861T>C4514MT-CO3Benign/Likely benign878853060RCV000224068|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 benign1603222555RCV000854598; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98629862M:g.9862T>A-
NC_012920.1(MT-CO3):m.9868G>A4514MT-CO3Uncertain significance1603222560RCV000854599; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M98689868M:g.9868G>A-
NC_012920.1(MT-CO3):m.9903T>C4514MT-CO3Benign199999390RCV000854600; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99039903M:g.9903T>C-
NC_012920.1(MT-CO3):m.9909T>C4514MT-CO3Benign28690056RCV000854601; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99099909M:g.9909T>C-
NC_012920.1(MT-CO3):m.9911C>A4514MT-CO3Uncertain significance28615236RCV000854602; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99119911M:g.9911C>A-
NC_012920.1(MT-CO3):m.9921G>A4514MT-CO3Benign1556423740RCV000854603; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99219921M:g.9921G>A-
NC_012920.1(MT-CO3):m.9922C>T4514MT-CO3Likely benign1603222583RCV000854604; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99229922M:g.9922C>T-
NC_012920.1(MT-CO3):m.9939G>A4514MT-CO3Uncertain significance1603222586RCV000854605; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99399939M:g.9939G>A-
NC_012920.1(MT-CO3):m.9948G>A4514MT-CO3Benign1556423747RCV000854606; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99489948M:g.9948G>A-
NC_012920.1(MT-CO3):m.9957T>C4514MT-CO3Benign1556423753RCV000854607|RCV003334023; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M99579957M:g.9957T>C-
NC_012920.1(MT-CO3):m.9966G>A4514MT-CO3Benign/Likely benign200809063RCV000424414|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 significance200809063RCV000854609; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99669966M:g.9966G>C-
NC_012920.1(MT-CO3):m.9967T>C4514MT-CO3Uncertain significance1603222598RCV000854610; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99679967M:g.9967T>C-
NC_012920.1(MT-CO3):m.9972A>G4514MT-CO3Likely benign1603222600RCV000854611; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99729972M:g.9972A>G-
NC_012920.1(MT-CO3):m.9981T>G4514MT-CO3Uncertain significance1603222606RCV000854612; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99819981M:g.9981T>G-
NC_012920.1(MT-CO3):m.9984G>A4514MT-CO3Uncertain significance1603222608RCV000854613; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99849984M:g.9984G>A-
NC_012920.1(MT-CO3):m.9987T>C4514MT-CO3Uncertain significance1603222609RCV000854614; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M99879987M:g.9987T>C-
m.15242G>A4519MT-CYBPathogenic207459999RCV000010318|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.14748T>C4519MT-CYBUncertain significance1603224852RCV000855143; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1474814748M:g.14748T>C-
NC_012920.1(MT-CYB):m.14750A>G4519MT-CYBBenign1603224853RCV000855144; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1475014750M:g.14750A>G-
NC_012920.1(MT-CYB):m.14750A>T4519MT-CYBLikely benign1603224853RCV000855145; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1475014750M:g.14750A>T-
NC_012920.1(MT-CYB):m.14751C>T4519MT-CYBBenign1603224855RCV000855146; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1475114751M:g.14751C>T-
NC_012920.1(MT-CYB):m.14757T>C4519MT-CYBBenign1603224859RCV000855147; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1475714757M:g.14757T>C-
NC_012920.1(MT-CYB):m.14760G>A4519MT-CYBUncertain significance1603224860RCV000855148; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1476014760M:g.14760G>A-
NC_012920.1(MT-CYB):m.14765A>T4519MT-CYBUncertain significance1603224865RCV000855149; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1476514765M:g.14765A>T-
m.14766C>T4519MT-CYBBenign193302980RCV000128802|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 significance1603224870RCV000855151; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1476814768M:g.14768A>G-
NC_012920.1(MT-CYB):m.14769A>G4519MT-CYBBenign28357679RCV000855152; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1476914769M:g.14769A>G-
NC_012920.1(MT-CYB):m.14778T>C4519MT-CYBUncertain significance1603224879RCV000855153; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1477814778M:g.14778T>C-
NC_012920.1(MT-CYB):m.14786A>G4519MT-CYBUncertain significance1603224884RCV000855154; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1478614786M:g.14786A>G-
NC_012920.1(MT-CYB):m.14790A>G4519MT-CYBBenign1603224887RCV000855155; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1479014790M:g.14790A>G-
NC_012920.1(MT-CYB):m.14792C>T4519MT-CYBUncertain significance1603224892RCV000855156; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1479214792M:g.14792C>T-
NC_012920.1(MT-CYB):m.14793A>G4519MT-CYBBenign2853504RCV000855157; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1479314793M:g.14793A>G-
NC_012920.1(MT-CYB):m.14795T>C4519MT-CYBUncertain significance1603224896RCV000855158|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-CYBBenign28357681RCV000855159; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1479814798M:g.14798T>C-
NC_012920.1(MT-CYB):m.14804G>A4519MT-CYBUncertain significance1603224902RCV000855160; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1480414804M:g.14804G>A-
NC_012920.1(MT-CYB):m.14813A>T4519MT-CYBUncertain significance1603224906RCV000855161; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1481314813M:g.14813A>T-
NC_012920.1(MT-CYB):m.14825A>G4519MT-CYBUncertain significance1603224912RCV000855162; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1482514825M:g.14825A>G-
NC_012920.1(MT-CYB):m.14826T>C4519MT-CYBUncertain significance1603224914RCV000855163; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1482614826M:g.14826T>C-
m.14831G>A4519MT-CYBBenign199795644RCV000055706|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 significance199795644RCV000855164; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1483114831M:g.14831G>C-
NC_012920.1(MT-CYB):m.14832C>T4519MT-CYBLikely benign1603224915RCV000855166; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1483214832M:g.14832C>T-
NC_012920.1(MT-CYB):m.14838G>A4519MT-CYBUncertain significance1603224920RCV000855167; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1483814838M:g.14838G>A-
NC_012920.1(MT-CYB):m.14841A>G4519MT-CYBLikely benign1556424497RCV000855168; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1484114841M:g.14841A>G-
m.14849T>C4519MT-CYBUncertain significance207460004RCV000010323|RCV000855170|RCV002260587; YMedGen:C4016599|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MeSH:D028361,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 significance1603224930RCV000855171; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1485814858M:g.14858G>A-
NC_012920.1(MT-CYB):m.14861G>A4519MT-CYBBenign2853505RCV000855172; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1486114861M:g.14861G>A-
NC_012920.1(MT-CYB):m.14862C>T4519MT-CYBBenign1603224933RCV000855173; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1486214862M:g.14862C>T-
NC_012920.1(MT-CYB):m.14870A>G4519MT-CYBBenign1603224936RCV000855174; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1487014870M:g.14870A>G-
NC_012920.1(MT-CYB):m.14871T>C4519MT-CYBLikely benign28660155RCV000855175; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1487114871M:g.14871T>C-
NC_012920.1(MT-CYB):m.14873C>T4519MT-CYBUncertain significance879056276RCV000855176; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1487314873M:g.14873C>T-
NC_012920.1(MT-CYB):m.14879A>T4519MT-CYBLikely benign1603224945RCV000855177; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1487914879M:g.14879A>T-
NC_012920.1(MT-CYB):m.14880T>C4519MT-CYBUncertain significance1603224948RCV000855178; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1488014880M:g.14880T>C-
NC_012920.1(MT-CYB):m.14883C>T4519MT-CYBBenign1603224950RCV000855179; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1488314883M:g.14883C>T-
NC_012920.1(MT-CYB):m.14888G>A4519MT-CYBUncertain significance1603224952RCV000855180; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1488814888M:g.14888G>A-
NC_012920.1(MT-CYB):m.14895T>C4519MT-CYBUncertain significance1603224957RCV000855181; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1489514895M:g.14895T>C-
NC_012920.1(MT-CYB):m.14900G>A4519MT-CYBUncertain significance1603224960RCV000855182; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1490014900M:g.14900G>A-
NC_012920.1(MT-CYB):m.14921G>A4519MT-CYBUncertain significance1603224964RCV000855183; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1492114921M:g.14921G>A-
NC_012920.1(MT-CYB):m.14924T>C4519MT-CYBUncertain significance1603224966RCV000855184; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1492414924M:g.14924T>C-
NC_012920.1(MT-CYB):m.14927A>G4519MT-CYBBenign201551481RCV000855185; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1492714927M:g.14927A>G-
NC_012920.1(MT-CYB):m.14945G>A4519MT-CYBUncertain significance1603224974RCV000855186; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1494514945M:g.14945G>A-
NC_012920.1(MT-CYB):m.14952T>C4519MT-CYBUncertain significance1603224975RCV000855187; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1495214952M:g.14952T>C-
NC_012920.1(MT-CYB):m.14954A>G4519MT-CYBLikely benign1603224977RCV000855188; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1495414954M:g.14954A>G-
NC_012920.1(MT-CYB):m.14958G>A4519MT-CYBUncertain significance1603224979RCV000855189; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1495814958M:g.14958G>A-
NC_012920.1(MT-CYB):m.14960G>A4519MT-CYBUncertain significance1603224981RCV000855190; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1496014960M:g.14960G>A-
NC_012920.1(MT-CYB):m.14963G>A4519MT-CYBUncertain significance1603224985RCV000855191; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1496314963M:g.14963G>A-
NC_012920.1(MT-CYB):m.14969T>C4519MT-CYBUncertain significance1569484685RCV000756354|RCV000855192; NMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1496914969m.14969T>C-
NC_012920.1(MT-CYB):m.14970A>G4519MT-CYBBenign1556424510RCV000855193; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1497014970M:g.14970A>G-
NC_012920.1(MT-CYB):m.14973G>A4519MT-CYBUncertain significance1603224995RCV000855194; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1497314973M:g.14973G>A-
NC_012920.1(MT-CYB):m.14976G>A4519MT-CYBUncertain significance1603224997RCV000855195; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1497614976M:g.14976G>A-
NC_012920.1(MT-CYB):m.14978A>G4519MT-CYBBenign199997767RCV000855196; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1497814978M:g.14978A>G-
NC_012920.1(MT-CYB):m.14979T>C4519MT-CYBBenign200786872RCV000855197; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1497914979M:g.14979T>C-
NC_012920.1(MT-CYB):m.14980C>A4519MT-CYBUncertain significance1603225000RCV000855198; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1498014980M:g.14980C>A-
NC_012920.1(MT-CYB):m.14982T>C4519MT-CYBUncertain significance1603225002RCV000855199; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1498214982M:g.14982T>C-
m.14985G>A4519MT-CYBUncertain significance207459995RCV000010314|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-CYBBenign1603225008RCV000855201; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1499014990M:g.14990C>T-
NC_012920.1(MT-CYB):m.14996G>A4519MT-CYBLikely benign1603225010RCV000855202; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1499614996M:g.14996G>A-
NC_012920.1(MT-CYB):m.15002G>A4519MT-CYBBenign370448948RCV000855203; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1500215002M:g.15002G>A-
NC_012920.1(MT-CYB):m.15003G>A4519MT-CYBUncertain significance1603225014RCV000855204; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1500315003M:g.15003G>A-
NC_012920.1(MT-CYB):m.15011A>G4519MT-CYBUncertain significance1603225021RCV000855205; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1501115011M:g.15011A>G-
NC_012920.1(MT-CYB):m.15014T>C4519MT-CYBBenign1603225022RCV000855206; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1501415014M:g.15014T>C-
NC_012920.1(MT-CYB):m.15016C>A4519MT-CYBUncertain significance1603225024RCV000855207; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1501615016M:g.15016C>A-
NC_012920.1(MT-CYB):m.15024G>C4519MT-CYBLikely benign1603225028RCV000855208; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1502415024M:g.15024G>C-
NC_012920.1(MT-CYB):m.15033T>C4519MT-CYBUncertain significance1603225033RCV000855209; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1503315033M:g.15033T>C-
NC_012920.1(MT-CYB):m.15045G>A4519MT-CYBUncertain significance1603225041RCV000855210; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1504515045M:g.15045G>A-
NC_012920.1(MT-CYB):m.15047G>A4519MT-CYBBenign1603225043RCV000855211; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1504715047M:g.15047G>A-
NC_012920.1(MT-CYB):m.15048G>C4519MT-CYBUncertain significance1603225045RCV000855212; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1504815048M:g.15048G>C-
NC_012920.1(MT-CYB):m.15059G>A4519MT-CYBUncertain significance1603225052RCV000855213; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1505915059M:g.15059G>A-
NC_012920.1:m.15060G>A4519MT-CYBUncertain significance1057516072RCV000408920|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 significance1603225056RCV000855215; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1506215062M:g.15062T>C-
NC_012920.1(MT-CYB):m.15071T>C4519MT-CYBBenign/Likely benign199999794RCV000514225|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-CYBBenign201169089RCV000855217; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1507415074M:g.15074T>C-
NC_012920.1(MT-CYB):m.15077G>A4519MT-CYBBenign201943501RCV000855218; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1507715077M:g.15077G>A-
NC_012920.1(MT-CYB):m.15078A>G4519MT-CYBUncertain significance1603225065RCV000855219; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1507815078M:g.15078A>G-
NC_012920.1(MT-CYB):m.15080A>G4519MT-CYBBenign386829235RCV000855220; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1508015080M:g.15080A>G-
NC_012920.1(MT-CYB):m.15090T>C4519MT-CYBLikely benign1603225069RCV000855221; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1509015090M:g.15090T>C-
NC_012920.1:m.15098A>G4519MT-CYBLikely benign527236172RCV000133414|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 benign1603225077RCV000855223; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1509915099M:g.15099T>C-
NC_012920.1(MT-CYB):m.15100C>A4519MT-CYBUncertain significance1603225079RCV000855224; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1510015100M:g.15100C>A-
NC_012920.1(MT-CYB):m.15110G>A4519MT-CYBBenign28357685RCV000855225; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1511015110M:g.15110G>A-
NC_012920.1(MT-CYB):m.15113A>G4519MT-CYBBenign1603225089RCV000855226; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1511315113M:g.15113A>G-
NC_012920.1(MT-CYB):m.15117T>C4519MT-CYBUncertain significance1603225092RCV000855227|RCV001796804; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M1511715117M:g.15117T>C-
NC_012920.1(MT-CYB):m.15119G>A4519MT-CYBBenign201194402RCV000855228; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1511915119M:g.15119G>A-
NC_012920.1(MT-CYB):m.15122A>G4519MT-CYBLikely benign1556424535RCV000855229; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1512215122M:g.15122A>G-
NC_012920.1(MT-CYB):m.15138A>G4519MT-CYBUncertain significance1603225106RCV000855230; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1513815138M:g.15138A>G-
NC_012920.1(MT-CYB):m.15141T>C4519MT-CYBUncertain significance1603225108RCV000855231; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1514115141M:g.15141T>C-
NC_012920.1(MT-CYB):m.15152G>A4519MT-CYBUncertain significance1603225113RCV000855233; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1515215152M:g.15152G>A-
NC_012920.1(MT-CYB):m.15153G>A4519MT-CYBUncertain significance1556424536RCV000855234; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1515315153M:g.15153G>A-
NC_012920.1(MT-CYB):m.15159T>C4519MT-CYBUncertain significance1603225114RCV000855235; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1515915159M:g.15159T>C-
NC_012920.1(MT-CYB):m.15164T>C4519MT-CYBBenign1603225118RCV000855236; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1516415164M:g.15164T>C-
NC_012920.1(MT-CYB):m.15191T>A4519MT-CYBUncertain significance878912989RCV000855237; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1519115191M:g.15191T>A-
NC_012920.1(MT-CYB):m.15200G>A4519MT-CYBUncertain significance1603225142RCV000855238; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1520015200M:g.15200G>A-
NC_012920.1(MT-CYB):m.15203A>G4519MT-CYBBenign1603225143RCV000855239; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1520315203M:g.15203A>G-
NC_012920.1(MT-CYB):m.15204T>C4519MT-CYBBenign28357687RCV000855240; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1520415204M:g.15204T>C-
NC_012920.1(MT-CYB):m.15212A>G4519MT-CYBLikely benign1603225150RCV000855241; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1521215212M:g.15212A>G-
NC_012920.1(MT-CYB):m.15213T>C4519MT-CYBLikely benign1603225151RCV000855242; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1521315213M:g.15213T>C-
NC_012920.1(MT-CYB):m.15218A>G4519MT-CYBBenign2853506RCV000855243; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1521815218M:g.15218A>G-
NC_012920.1(MT-CYB):m.15221G>A4519MT-CYBBenign1603225157RCV000855244; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1522115221M:g.15221G>A-
NC_012920.1(MT-CYB):m.15222A>G4519MT-CYBUncertain significance1603225158RCV000855245; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1522215222M:g.15222A>G-
NC_012920.1(MT-CYB):m.15228T>C4519MT-CYBUncertain significance1603225161RCV000855246; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1522815228M:g.15228T>C-
NC_012920.1(MT-CYB):m.15233T>C4519MT-CYBUncertain significance1603225163RCV000855247; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1523315233M:g.15233T>C-
NC_012920.1(MT-CYB):m.15233T>G4519MT-CYBUncertain significance1603225163RCV000855248; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1523315233M:g.15233T>G-
NC_012920.1(MT-CYB):m.15236A>G4519MT-CYBBenign386829239RCV000855249; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1523615236M:g.15236A>G-
NC_012920.1(MT-CYB):m.15237T>G4519MT-CYBUncertain significance879217377RCV000855250; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1523715237M:g.15237T>G-
NC_012920.1(MT-CYB):m.15238C>A4519MT-CYBUncertain significance1603225166RCV000855251; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1523815238M:g.15238C>A-
NC_012920.1(MT-CYB):m.15243G>A4519MT-CYBUncertain significance1603225167RCV000855253; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1524315243M:g.15243G>A-
NC_012920.1(MT-CYB):m.15245G>A4519MT-CYBUncertain significance1603225169RCV000855254; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1524515245M:g.15245G>A-
m.15257G>A4519MT-CYBBenign41518645RCV000010312|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 significance1603225179RCV000855256; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1525715258NC_012920.1:m.15257_15258delinsAG-
NC_012920.1(MT-CYB):m.15261G>A4519MT-CYBBenign1556424551RCV000855258; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1526115261M:g.15261G>A-
NC_012920.1(MT-CYB):m.15263C>T4519MT-CYBBenign200455825RCV000855259; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1526315263M:g.15263C>T-
NC_012920.1(MT-CYB):m.15266A>G4519MT-CYBUncertain significance1603225185RCV000855260; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1526615266M:g.15266A>G-
NC_012920.1(MT-CYB):m.15272A>G4519MT-CYBBenign1603225187RCV000855261; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1527215272M:g.15272A>G-
NC_012920.1(MT-CYB):m.15273C>A4519MT-CYBUncertain significance1603225189RCV000855262; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1527315273M:g.15273C>A-
m.15287T>C4519MT-CYBBenign527236044RCV000128805|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 significance1603225203RCV000855264; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1529415294M:g.15294T>C-
NC_012920.1(MT-CYB):m.15300T>C4519MT-CYBBenign1556424556RCV000855265; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1530015300M:g.15300T>C-
NC_012920.1(MT-CYB):m.15309T>C4519MT-CYBUncertain significance1603225211RCV000855266; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1530915309M:g.15309T>C-
NC_012920.1(MT-CYB):m.15311A>G4519MT-CYBBenign35070048RCV000855267; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1531115311M:g.15311A>G-
NC_012920.1(MT-CYB):m.15312T>C4519MT-CYBLikely benign1603225215RCV000855268; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1531215312M:g.15312T>C-
NC_012920.1:m.15314G>A4519MT-CYBBenign527236176RCV000133418|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-CYBBenign879191792RCV000855270; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1531515315M:g.15315C>T-
NC_012920.1(MT-CYB):m.15317G>A4519MT-CYBBenign2853507RCV000855271; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1531715317M:g.15317G>A-
NC_012920.1:m.15323G>A4519MT-CYBBenign527236177RCV000133419|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-CYBBenign2853508RCV000128807|RCV000855273|RCV002221492; NMONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MeSH:D028361,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 significance1603225222RCV000855275; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1532715327M:g.15327C>T-
NC_012920.1(MT-CYB):m.15336T>A4519MT-CYBUncertain significance1603225228RCV000855276; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1533615336M:g.15336T>A-
NC_012920.1(MT-CYB):m.15341T>C4519MT-CYBBenign1603225233RCV000855277; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1534115341M:g.15341T>C-
NC_012920.1(MT-CYB):m.15357G>A4519MT-CYBUncertain significance1603225244RCV000855278; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1535715357M:g.15357G>A-
NC_012920.1(MT-CYB):m.15377A>G4519MT-CYBLikely benign1603225248RCV000855279; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1537715377M:g.15377A>G-
NC_012920.1(MT-CYB):m.15380A>G4519MT-CYBLikely benign1603225250RCV000855280; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1538015380M:g.15380A>G-
NC_012920.1(MT-CYB):m.15381C>T4519MT-CYBLikely benign199721378RCV000855281; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1538115381M:g.15381C>T-
NC_012920.1(MT-CYB):m.15383T>C4519MT-CYBBenign1603225252RCV000855282; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1538315383M:g.15383T>C-
NC_012920.1(MT-CYB):m.15386C>T4519MT-CYBBenign1556424581RCV000855283; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1538615386M:g.15386C>T-
NC_012920.1(MT-CYB):m.15401A>G4519MT-CYBBenign200521299RCV000855284; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1540115401M:g.15401A>G-
NC_012920.1(MT-CYB):m.15402C>T4519MT-CYBBenign879163418RCV000855285; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1540215402M:g.15402C>T-
NC_012920.1(MT-CYB):m.15404T>C4519MT-CYBUncertain significance1603225259RCV000855286; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1540415404M:g.15404T>C-
NC_012920.1(MT-CYB):m.15413T>C4519MT-CYBUncertain significance1603225265RCV000855287; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1541315413M:g.15413T>C-
NC_012920.1(MT-CYB):m.15414A>T4519MT-CYBUncertain significance1603225266RCV000855288; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1541415414M:g.15414A>T-
NC_012920.1(MT-CYB):m.15428G>A4519MT-CYBUncertain significance1603225270RCV000855289; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1542815428M:g.15428G>A-
NC_012920.1:m.15431G>A4519MT-CYBBenign193302993RCV000133455|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 benign1603225279RCV000855291; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1543415434M:g.15434C>T-
NC_012920.1(MT-CYB):m.15449T>C4519MT-CYBBenign1603225289RCV000855293; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1544915449M:g.15449T>C-
NC_012920.1(MT-CYB):m.15450T>C4519MT-CYBLikely benign1603225291RCV000855294; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1545015450M:g.15450T>C-
NC_012920.1:m.15452C>A4519MT-CYBBenign193302994RCV000133456|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 significance1603225292RCV000855296; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1545215453NC_012920.1:m.15452_15453delinsAC-
NC_012920.1:m.15453T>C4519MT-CYBUncertain significance527236184RCV000133428|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-CYBBenign527236185RCV000133429|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 benign527236186RCV000133430|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 significance1603225298RCV000855300; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1546215462M:g.15462T>C-
NC_012920.1(MT-CYB):m.15465T>C4519MT-CYBUncertain significance1603225299RCV000855301; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1546515465M:g.15465T>C-
NC_012920.1(MT-CYB):m.15467A>G4519MT-CYBUncertain significance1569484723RCV000756355|RCV000855302|RCV003166005; NMedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M1546715467m.15467A>G-
NC_012920.1(MT-CYB):m.15468C>T4519MT-CYBUncertain significance1603225301RCV000855303; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1546815468M:g.15468C>T-
NC_012920.1(MT-CYB):m.15479T>C4519MT-CYBBenign202008188RCV000855304; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1547915479M:g.15479T>C-
NC_012920.1(MT-CYB):m.15483C>T4519MT-CYBUncertain significance1603225306RCV000855305; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1548315483M:g.15483C>T-
NC_012920.1(MT-CYB):m.15488G>A4519MT-CYBUncertain significance1603225310RCV000855306; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1548815488M:g.15488G>A-
m.15497G>A4519MT-CYBBenign/Likely benign199951903RCV000022894|RCV000434000|RCV000855307; NHuman Phenotype Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754, Orphanet:71529|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1549715497M:g.15497G>AClinGen:CA210805,OMIM:516020.0014CN517202 not provided;
m.15498G>A4519MT-CYBUncertain significance207460003RCV000010322|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 significance1603225317RCV000855309; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1550015500M:g.15500G>A-
NC_012920.1(MT-CYB):m.15501A>G4519MT-CYBUncertain significance1603225319RCV000855310; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1550115501M:g.15501A>G-
NC_012920.1(MT-CYB):m.15512T>C4519MT-CYBBenign879031246RCV000855311; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1551215512M:g.15512T>C-
NC_012920.1(MT-CYB):m.15519T>A4519MT-CYBUncertain significance200913192RCV000855313; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1551915519M:g.15519T>A-
NC_012920.1(MT-CYB):m.15519T>C4519MT-CYBBenign200913192RCV000855312; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1551915519M:g.15519T>C-
NC_012920.1(MT-CYB):m.15521G>A4519MT-CYBLikely benign1603225327RCV000855314; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1552115521M:g.15521G>A-
NC_012920.1(MT-CYB):m.15522C>G4519MT-CYBUncertain significance1603225329RCV000855315; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1552215522M:g.15522C>G-
NC_012920.1(MT-CYB):m.15524A>G4519MT-CYBBenign1603225331RCV000855316; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1552415524M:g.15524A>G-
NC_012920.1(MT-CYB):m.15525A>G4519MT-CYBUncertain significance1603225333RCV000855317; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1552515525M:g.15525A>G-
NC_012920.1(MT-CYB):m.15531T>C4519MT-CYBUncertain significance1603225336RCV000855318; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1553115531M:g.15531T>C-
NC_012920.1(MT-CYB):m.15533A>G4519MT-CYBLikely benign1556424601RCV000855319; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1553315533M:g.15533A>G-
NC_012920.1(MT-CYB):m.15534A>G4519MT-CYBUncertain significance1603225337RCV000855320; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1553415534M:g.15534A>G-
NC_012920.1(MT-CYB):m.15542C>T4519MT-CYBUncertain significance1603225339RCV000855321; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1554215542M:g.15542C>T-
NC_012920.1(MT-CYB):m.15557G>A4519MT-CYBUncertain significance1603225350RCV000855322; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1555715557M:g.15557G>A-
NC_012920.1(MT-CYB):m.15567T>C4519MT-CYBUncertain significance1603225354RCV000855323; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1556715567M:g.15567T>C-
NC_012920.1(MT-CYB):m.15575G>A4519MT-CYBUncertain significance1603225356RCV000855324; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1557515575M:g.15575G>A-
NC_012920.1(MT-CYB):m.15581A>G4519MT-CYBUncertain significance1603225359RCV000855326; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1558115581M:g.15581A>G-
NC_012920.1(MT-CYB):m.15584A>G4519MT-CYBUncertain significance1603225361RCV000855327; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1558415584M:g.15584A>G-
NC_012920.1(MT-CYB):m.15596G>A4519MT-CYBBenign1603225369RCV000855328; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1559615596M:g.15596G>A-
NC_012920.1(MT-CYB):m.15612G>A4519MT-CYBUncertain significance1603225372RCV000855329; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1561215612M:g.15612G>A-
NC_012920.1(MT-CYB):m.15614G>A4519MT-CYBUncertain significance1603225376RCV000855330; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1561415614M:g.15614G>A-
NC_012920.1(MT-CYB):m.15617G>A4519MT-CYBBenign1556424625RCV000855333; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1561715617M:g.15617G>A-
NC_012920.1(MT-CYB):m.15617G>C4519MT-CYBUncertain significance1556424625RCV000855332; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1561715617M:g.15617G>C-
NC_012920.1(MT-CYB):m.15623G>A4519MT-CYBUncertain significance1603225385RCV000855334; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1562315623M:g.15623G>A-
NC_012920.1(MT-CYB):m.15638A>G4519MT-CYBUncertain significance1603225395RCV000855335; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1563815638M:g.15638A>G-
NC_012920.1(MT-CYB):m.15639T>C4519MT-CYBUncertain significance1603225396RCV000855336; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1563915639M:g.15639T>C-
NC_012920.1(MT-CYB):m.15642T>C4519MT-CYBUncertain significance1603225397RCV000855337; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1564215642M:g.15642T>C-
NC_012920.1(MT-CYB):m.15644A>G4519MT-CYBBenign1603225400RCV000855338; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1564415644M:g.15644A>G-
NC_012920.1(MT-CYB):m.15650G>A4519MT-CYBLikely benign1556424635RCV000855339; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1565015650M:g.15650G>A-
NC_012920.1(MT-CYB):m.15651C>T4519MT-CYBBenign1603225405RCV000855340; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1565115651M:g.15651C>T-
NC_012920.1(MT-CYB):m.15653A>G4519MT-CYBUncertain significance878890251RCV000855341; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1565315653M:g.15653A>G-
NC_012920.1(MT-CYB):m.15653A>T4519MT-CYBUncertain significance878890251RCV000855342; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1565315653M:g.15653A>T-
NC_012920.1(MT-CYB):m.15654T>C4519MT-CYBLikely benign1556424638RCV000855343; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1565415654M:g.15654T>C-
NC_012920.1(MT-CYB):m.15657T>C4519MT-CYBLikely benign1556424640RCV000855344; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1565715657M:g.15657T>C-
NC_012920.1(MT-CYB):m.15662A>G4519MT-CYBBenign3094280RCV000855345; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1566215662M:g.15662A>G-
NC_012920.1(MT-CYB):m.15663T>C4519MT-CYBBenign369851331RCV000855346; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1566315663M:g.15663T>C-
NC_012920.1(MT-CYB):m.15664C>A4519MT-CYBLikely benign1603225414RCV000855347; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1566415664M:g.15664C>A-
NC_012920.1(MT-CYB):m.15672T>C4519MT-CYBBenign199967113RCV000855348; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1567215672M:g.15672T>C-
NC_012920.1(MT-CYB):m.15674T>C4519MT-CYBBenign1603225419RCV000855349; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1567415674M:g.15674T>C-
NC_012920.1(MT-CYB):m.15686A>G4519MT-CYBUncertain significance1603225422RCV000855350; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1568615686M:g.15686A>G-
NC_012920.1(MT-CYB):m.15690T>C4519MT-CYBUncertain significance1603225423RCV000855351; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1569015690M:g.15690T>C-
NC_012920.1(MT-CYB):m.15692A>G4519MT-CYBBenign1603225425RCV000855352; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1569215692M:g.15692A>G-
NC_012920.1(MT-CYB):m.15693T>C4519MT-CYBBenign200975632RCV000855353; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1569315693M:g.15693T>C-
NC_012920.1(MT-CYB):m.15708G>C4519MT-CYBUncertain significance1556424649RCV000855354; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1570815708M:g.15708G>C-
NC_012920.1(MT-CYB):m.15725C>T4519MT-CYBBenign1603225438RCV000855355; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1572515725M:g.15725C>T-
NC_012920.1(MT-CYB):m.15731G>A4519MT-CYBBenign1556424652RCV000855356; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1573115731M:g.15731G>A-
NC_012920.1(MT-CYB):m.15732C>T4519MT-CYBLikely benign879129589RCV000855357; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1573215732M:g.15732C>T-
NC_012920.1(MT-CYB):m.15734G>A4519MT-CYBBenign386829259RCV000855358; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1573415734M:g.15734G>A-
NC_012920.1(MT-CYB):m.15735C>T4519MT-CYBBenign1603225446RCV000855359; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1573515735M:g.15735C>T-
NC_012920.1(MT-CYB):m.15737G>A4519MT-CYBUncertain significance1603225449RCV000855360; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1573715737M:g.15737G>A-
NC_012920.1(MT-CYB):m.15740C>T4519MT-CYBUncertain significance1603225452RCV000855361; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1574015740M:g.15740C>T-
NC_012920.1(MT-CYB):m.15743C>T4519MT-CYBUncertain significance1603225455RCV000855362; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1574315743M:g.15743C>T-
NC_012920.1(MT-CYB):m.15746A>G4519MT-CYBBenign386829260RCV000224723|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-CYBBenign1603225457RCV000855364; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1574715747M:g.15747T>C-
NC_012920.1:m.15758A>G4519MT-CYBBenign527236193RCV000133437|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 significance1603225469RCV000855366; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1577015770M:g.15770C>T-
NC_012920.1(MT-CYB):m.15773G>A4519MT-CYBBenign386829261RCV000855367; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1577315773M:g.15773G>A-
NC_012920.1(MT-CYB):m.15774T>C4519MT-CYBLikely benign1603225473RCV000855368; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1577415774M:g.15774T>C-
NC_012920.1(MT-CYB):m.15776A>G4519MT-CYBLikely benign1603225477RCV000855369; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1577615776M:g.15776A>G-
NC_012920.1(MT-CYB):m.15777G>A4519MT-CYBBenign/Likely benign879182710RCV000440780|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-CYBBenign879182710RCV000855371; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1577715777M:g.15777G>C-
NC_012920.1(MT-CYB):m.15779T>C4519MT-CYBLikely benign1603225480RCV000855372; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1577915779M:g.15779T>C-
NC_012920.1(MT-CYB):m.15785T>C4519MT-CYBUncertain significance879052837RCV000855373; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1578515785M:g.15785T>C-
NC_012920.1(MT-CYB):m.15789C>T4519MT-CYBBenign1556424663RCV000855374; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1578915789M:g.15789C>T-
NC_012920.1(MT-CYB):m.15791A>G4519MT-CYBLikely benign1556424666RCV000855375; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1579115791M:g.15791A>G-
NC_012920.1(MT-CYB):m.15793C>A4519MT-CYBUncertain significance1603225497RCV000855376; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1579315793M:g.15793C>A-
NC_012920.1(MT-CYB):m.15803G>A4519MT-CYBBenign1603225508RCV000855377; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1580315803M:g.15803G>A-
NC_012920.1(MT-CYB):m.15804T>C4519MT-CYBBenign1556424669RCV000855378; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1580415804M:g.15804T>C-
m.15812G>A4519MT-CYBBenign200336777RCV000010313|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-CYBBenign1603225521RCV000855381; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1581315813M:g.15813T>C-
NC_012920.1(MT-CYB):m.15813T>G4519MT-CYBLikely benign1603225521RCV000855380; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1581315813M:g.15813T>G-
NC_012920.1(MT-CYB):m.15824A>G4519MT-CYBBenign28357376RCV000855382; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1582415824M:g.15824A>G-
NC_012920.1(MT-CYB):m.15828C>T4519MT-CYBLikely benign1603225527RCV000855383; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1582815828M:g.15828C>T-
NC_012920.1(MT-CYB):m.15831T>C4519MT-CYBUncertain significance1603225529RCV000855384; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1583115831M:g.15831T>C-
NC_012920.1(MT-CYB):m.15834T>C4519MT-CYBUncertain significance878937787RCV000855385; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1583415834M:g.15834T>C-
NC_012920.1(MT-CYB):m.15843T>C4519MT-CYBUncertain significance1603225538RCV000855386; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1584315843M:g.15843T>C-
NC_012920.1(MT-CYB):m.15848A>G4519MT-CYBUncertain significance1057520206RCV000426856|RCV000855387|RCV003319197; NMedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M1584815848M:g.15848A>GClinGen:CA16603354CN517202 not provided;
NC_012920.1(MT-CYB):m.15849C>T4519MT-CYBBenign202225494RCV000855388; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1584915849M:g.15849C>T-
NC_012920.1(MT-CYB):m.15851A>G4519MT-CYBBenign3094281RCV000855389; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1585115851M:g.15851A>G-
NC_012920.1(MT-CYB):m.15852T>C4519MT-CYBBenign1603225544RCV000855390; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1585215852M:g.15852T>C-
NC_012920.1(MT-CYB):m.15852T>G4519MT-CYBUncertain significance1603225544RCV000855391; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1585215852M:g.15852T>G-
NC_012920.1(MT-CYB):m.15860A>G4519MT-CYBBenign201023973RCV000855393; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1586015860M:g.15860A>G-
NC_012920.1(MT-CYB):m.15860A>T4519MT-CYBLikely benign201023973RCV000855392; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1586015860M:g.15860A>T-
NC_012920.1(MT-CYB):m.15873T>C4519MT-CYBUncertain significance1603225557RCV000855394; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1587315873M:g.15873T>C-
NC_012920.1(MT-CYB):m.15882G>A4519MT-CYBUncertain significance1603225560RCV000855395; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1588215882M:g.15882G>A-
NC_012920.1:m.15884G>A4519MT-CYBBenign527236195RCV000133439|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-CYBBenign527236195RCV000238892|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-CYBBenign1603225562RCV000855398; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M1588515885M:g.15885C>T-
m.3946G>A4535MT-ND1Pathogenic/Likely pathogenic199476123RCV000010387|RCV000853718|RCV001542704; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:10M39463946M:g.3946G>AClinGen:CA254862,OMIM:516000.0013C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1:m.3460G>A4535MT-ND1Pathogenic199476118RCV000010370|RCV000143998|RCV000735416|RCV000757484|RCV003319165; 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:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0M34603460M:g.3460G>AClinGen:CA120646,OMIM:516000.0001C0917796 535000 Leber's optic atrophy;
NC_012920.1:m.3481G>A4535MT-ND1Pathogenic587776433RCV000143999|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.3685T>C4535MT-ND1Likely pathogenic1603219079RCV001797044; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M368536853685-
NC_012920.1:m.3890G>A4535MT-ND1Likely pathogenic587776434RCV000144000|RCV002285011|RCV002260617; YMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M38903890M:g.3890G>AClinGen:CA345911C0023264 256000 Leigh syndrome;
NC_012920.1(MT-ND1):m.3307A>T4535MT-ND1Uncertain significance1603218882RCV000853626; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33073307M:g.3307A>T-
m.3308T>C4535MT-ND1Benign/Likely benign28358582RCV000010379|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 benign28358582RCV000010381|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 significance1603218887RCV000853628; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33083308M:g.3308_3309insC-
NC_012920.1(MT-ND1):m.3310C>T4535MT-ND1Uncertain significance1603218889RCV000853630; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33103310M:g.3310C>T-
NC_012920.1(MT-ND1):m.3313A>G4535MT-ND1Uncertain significance1603218891RCV000853631; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33133313M:g.3313A>G-
NC_012920.1(MT-ND1):m.3316G>A4535MT-ND1Benign2853516RCV000853633; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33163316M:g.3316G>A-
NC_012920.1(MT-ND1):m.3316G>C4535MT-ND1Uncertain significance2853516RCV000853632; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33163316M:g.3316G>C-
NC_012920.1(MT-ND1):m.3320A>G4535MT-ND1Uncertain significance1603218896RCV000853634; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33203320M:g.3320A>G-
NC_012920.1(MT-ND1):m.3328C>T4535MT-ND1Uncertain significance1603218901RCV000853635; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33283328M:g.3328C>T-
NC_012920.1(MT-ND1):m.3335T>C4535MT-ND1Benign879173824RCV000853636; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33353335M:g.3335T>C-
NC_012920.1(MT-ND1):m.3337G>A4535MT-ND1Benign1556422709RCV000853637; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33373337M:g.3337G>A-
NC_012920.1(MT-ND1):m.3338T>C4535MT-ND1Benign201969351RCV000853638; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33383338M:g.3338T>C-
NC_012920.1(MT-ND1):m.3340C>T4535MT-ND1Likely benign1603218910RCV000853639; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33403340M:g.3340C>T-
NC_012920.1(MT-ND1):m.3344T>C4535MT-ND1Likely benign1603218912RCV000853640; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33443344M:g.3344T>C-
NC_012920.1(MT-ND1):m.3349A>G4535MT-ND1Benign879193727RCV000853641; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33493349M:g.3349A>G-
NC_012920.1(MT-ND1):m.3350T>C4535MT-ND1Benign1603218915RCV000853642; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33503350M:g.3350T>C-
NC_012920.1(MT-ND1):m.3357G>C4535MT-ND1Uncertain significance1556422714RCV000853643|RCV001249404|RCV001796800; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380M33573357M:g.3357G>C-
NC_012920.1(MT-ND1):m.3358G>A4535MT-ND1Uncertain significance1556422715RCV000853644; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33583358M:g.3358G>A-
NC_012920.1(MT-ND1):m.3368T>C4535MT-ND1Likely benign1603218920RCV000853645; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33683368M:g.3368T>C-
NC_012920.1(MT-ND1):m.3385A>G4535MT-ND1Likely benign879050714RCV000853647; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33853385M:g.3385A>G-
m.3388C>A4535MT-ND1Benign387906730RCV000022892|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-ND1Benign1603218931RCV000853649; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33913391M:g.3391G>A-
m.3394T>C4535MT-ND1Conflicting interpretations of pathogenicity41460449RCV000010375|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 significance1556422722RCV000853651; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33953395M:g.3395A>C-
NC_012920.1(MT-ND1):m.3395A>G4535MT-ND1Likely benign1556422722RCV000853652; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33953395M:g.3395A>G-
NC_012920.1(MT-ND1):m.3398T>C4535MT-ND1Benign201212638RCV000853654; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33983398M:g.3398T>C-
NC_012920.1(MT-ND1):m.3399A>T4535MT-ND1Benign386828905RCV000853655; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M33993399M:g.3399A>T-
NC_012920.1(MT-ND1):m.3419A>G4535MT-ND1Uncertain significance1603218949RCV000853656; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M34193419M:g.3419A>G-
NC_012920.1(MT-ND1):m.3421G>A4535MT-ND1Benign1603218954RCV000853657; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M34213421M:g.3421G>A-
NC_012920.1(MT-ND1):m.3427G>A4535MT-ND1Uncertain significance1603218960RCV000853658; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M34273427M:g.3427G>A-
NC_012920.1(MT-ND1):m.3434A>G4535MT-ND1Benign202123618RCV000853659; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M34343434M:g.3434A>G-
NC_012920.1(MT-ND1):m.3488T>C4535MT-ND1Uncertain significance1603218982RCV000853661; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M34883488M:g.3488T>C-
NC_012920.1(MT-ND1):m.3492A>C4535MT-ND1Likely benign878950749RCV000853662; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M34923492M:g.3492A>C-
NC_012920.1(MT-ND1):m.3496G>A4535MT-ND1Uncertain significance1603218984RCV000853663; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M34963496M:g.3496G>A-
NC_012920.1(MT-ND1):m.3497C>T4535MT-ND1Benign200319905RCV000853664; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M34973497M:g.3497C>T-
NC_012920.1:m.3505A>G4535MT-ND1Benign28358585RCV000238711|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 significance1603218990RCV000853667; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35083508M:g.3508A>G-
NC_012920.1(MT-ND1):m.3509T>C4535MT-ND1Uncertain significance1603218992RCV000853668; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35093509M:g.3509T>C-
NC_012920.1(MT-ND1):m.3511A>G4535MT-ND1Benign386828909RCV000853669; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35113511M:g.3511A>G-
NC_012920.1(MT-ND1):m.3520A>G4535MT-ND1Benign1603218996RCV000853670; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35203520M:g.3520A>G-
NC_012920.1(MT-ND1):m.3523A>G4535MT-ND1Benign878982767RCV000853671; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35233523M:g.3523A>G-
NC_012920.1(MT-ND1):m.3526G>A4535MT-ND1Uncertain significance1603218998RCV000853672; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35263526M:g.3526G>A-
NC_012920.1(MT-ND1):m.3533C>T4535MT-ND1Likely benign377091327RCV000853673; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35333533M:g.3533C>T-
NC_012920.1(MT-ND1):m.3535T>A4535MT-ND1Likely benign1603219004RCV000853674; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35353535M:g.3535T>A-
NC_012920.1(MT-ND1):m.3547A>G4535MT-ND1Benign28358586RCV000853675; NMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506M35473547M:g.3547A>G-
NC_012920.1:m.3548T>C4535MT-ND1Benign876661353RCV000223756|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-ND1Benign2854133