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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Brain Diseases, Metabolic, Inborn (D020739)
Parent Node: Mitochondrial Diseases (D028361)
Parent Node: Pyruvate Metabolism, Inborn Errors (D015323)
..Starting node ..Leigh Disease (D007888)
Child Nodes:
........CoQ-responsive OXPHOS deficiency (C535470)
........Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency (C536255)
........Leigh syndrome , French Canadian type (C537004) L: 00389;
........Leigh Syndrome Due To Mitochondrial Complex I Deficiency (C564021)
........Leigh Syndrome Due To Mitochondrial Complex II Deficiency (C564961)
........Leigh Syndrome due to Mitochondrial Complex III Deficiency (C564962)
........Leigh Syndrome due to Mitochondrial Complex IV Deficiency (C564963)
........Leigh Syndrome due to Mitochondrial Complex V Deficiency (C564964)
........Leigh Syndrome, X-Linked (C564114) L: 00390;
........Maternally Inherited Leigh Syndrome (C536035)
........Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530) L: 00433;
........Necrotizing encephalopathy, infantile subacute, of Leigh (C538590)
Sister Nodes:
..Leigh Disease (D007888) 12 C:3 L: 00015;
..Pyruvate Carboxylase Deficiency Disease (D015324) 1 L: 00398;
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4 C:3 L: 00442;
..Pyruvate Kinase Deficiency of Red Cells (C564858)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

6278

Name:

Leigh Disease

Definition:

A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).

Alternative IDs:

OMIM:256000

ParentIDs:

MESH:D015323|MESH:D020739|MESH:D028361

TreeNumbers:

C10.228.140.163.100.412 |C16.320.565.189.412 |C16.320.565.202.810.444 |C18.452.132.100.412 |C18.452.648.189.412 |C18.452.648.202.810.444 |C18.452.660.520

Synonyms:

Slim Mappings:

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

Reference:

MedGen: D007888
MeSH: D007888
OMIM: 256000;
MSeqDR : 00015;
MSeqDR has 3 matches in descendants: 00389; 00390; 00433;
Genes: BCS1L; COX10; COX15; FOXRED1; NDUFA10; NDUFA12; NDUFA2; NDUFA9; NDUFAF2; NDUFAF6; NDUFS3; NDUFS4; NDUFS7; NDUFS8; SDHA; SURF1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001427	Mitochondrial inheritance
3	HP:0003593	Infantile onset
4	HP:0002793	Abnormal pattern of respiration
5	HP:0100022	Abnormality of movement	hallmark
6	HP:0001251	Ataxia
7	HP:0007305	CNS demyelination
8	HP:0100543	Cognitive impairment NAMDC: Cognitive delay	hallmark
9	HP:0001260	Dysarthria NAMDC: Dysarthria
10	HP:0001332	Dystonia NAMDC: Dystonia
11	HP:0000712	Emotional lability
12	HP:0001508	Failure to thrive
13	HP:0002171	Gliosis
14	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
15	HP:0001263	Global developmental delay NAMDC: Mental retardation
16	HP:0001404	Hepatocellular necrosis
17	HP:0001425	Heterogeneous
18	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
19	HP:0000998	Hypertrichosis
20	HP:0002311	Incoordination	hallmark
21	HP:0002490	Increased CSF lactate
22	HP:0002151	Increased serum lactate
23	HP:0001249	Intellectual disability
24	HP:0003128	Lactic acidosis
25	HP:0001252	Muscular hypotonia NAMDC: Hypotonia	hallmark
26	HP:0001252	Muscular hypotonia NAMDC: Hypotonia
27	HP:0000639	Nystagmus	hallmark
28	HP:0000639	Nystagmus
29	HP:0000597	Ophthalmoparesis NAMDC: Ophthalmoparesis	typical
30	HP:0000602	Ophthalmoplegia
31	HP:0000648	Optic atrophy
32	HP:0000648	Optic atrophy	typical
33	HP:0003812	Phenotypic variability
34	HP:0000580	Pigmentary retinopathy NAMDC: Pigmentary retinopathy
35	HP:0003676	Progressive
36	HP:0000508	Ptosis NAMDC: Ptosis
37	HP:0002878	Respiratory failure
38	HP:0002093	Respiratory insufficiency	hallmark
39	HP:0001250	Seizures NAMDC: Seizures
40	HP:0001250	Seizures NAMDC: Seizures	typical
41	HP:0000407	Sensorineural hearing impairment NAMDC: Sensorineural hearing loss
42	HP:0001257	Spasticity NAMDC: Spasticity
43	HP:0000486	Strabismus
44	HP:0000486	Strabismus	hallmark

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	OtherIDs	Disease_ClinVar
NM_004328.4(BCS1L):c.-262G>T	617	BCS1L	Uncertain significance	886055624	RCV000260413; RCV000355262; RCV000315836;	N	MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000	2	219524463	219524463	-	C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.-127T>C	617	BCS1L	Uncertain significance	886055625	RCV000275953; RCV000389070; RCV000330985;	N	MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000	2	219524891	219524891	-	C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.-94T>G	617	BCS1L	Uncertain significance	188224298	RCV000346257; RCV000385604; RCV000291289; RCV000676998;	N	MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000; MedGen:CN517202	2	219524924	219524924	-	C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.-43G>A	617	BCS1L	Conflicting interpretations of pathogenicity	145989550	RCV000382259; RCV000289306; RCV000341934; RCV000198605;	N	MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000; MedGen:CN169374	2	219525668	219525668	-	C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.-14G>A	617	BCS1L	Conflicting interpretations of pathogenicity	367721351	RCV000340599; RCV000395551; RCV000302189; RCV000605569;	N	MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000; MedGen:CN169374	2	219525697	219525697	-	C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.112C>G (p.Leu38Val)	617	BCS1L	Uncertain significance	886055626	RCV000402322; RCV000300923; RCV000353398;	N	MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000	2	219525822	219525822	-	C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.166C>T (p.Arg56Ter)	617	BCS1L	Pathogenic/Likely pathogenic	121908576	RCV000260660; RCV000576565; RCV000763069; RCV000763069; RCV000006544; RCV000763069; RCV000763069; RCV000195481;	N	MedGen:CN239240; MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000; MedGen:C3541471,OMIM:124000; MedGen:C0266006,OMIM	2	219525876	219525876	OMIM Allelic Variant:603647.0007	CN239240 BCS1L-Related Disorders;
NM_004328.4(BCS1L):c.201C>T (p.Leu67=)	617	BCS1L	Uncertain significance	142540289	RCV000313563; RCV000273790; RCV000370613; RCV000376147;	N	MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000; MedGen:CN517202	2	219525911	219525911	-	C1864002 603358 GRACILE syndrome;
NM_001257342.1(BCS1L):c.232A>G (p.Ser78Gly)	617	BCS1L	Pathogenic	28937590	RCV000006542; RCV000763070; RCV000763070; RCV000763070; RCV000763070; RCV000519547;	N	MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000; MedGen:C0266006,OMIM:262000, Orphanet:ORPHA123,SNOMED CT:67817003	2	219525942	219525942	OMIM Allelic Variant:603647.0005,UniProtKB (protein):Q9Y276#VAR_018149	C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.258T>C (p.His86=)	617	BCS1L	Uncertain significance	886055627	RCV000330882; RCV000272188; RCV000364504;	N	MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000	2	219525968	219525968	-	C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.321-12G>A	617	BCS1L	Uncertain significance	776363896	RCV000382055; RCV000285241; RCV000324948;	N	MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000	2	219526117	219526117	-	C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.628G>A (p.Asp210Asn)	617	BCS1L	Benign/Likely benign	58447305	RCV000324040; RCV000281286; RCV000376268; RCV000677000; RCV000123832;	N	MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000; MedGen:CN517202; MedGen:CN169374	2	219526649	219526649	-	C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.768C>G (p.Leu256=)	617	BCS1L	Uncertain significance	781666793	RCV000394839; RCV000338686; RCV000279975;	N	MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000	2	219527281	219527281	-	C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.822G>A (p.Pro274=)	617	BCS1L	Conflicting interpretations of pathogenicity	112329020	RCV000401551; RCV000311482; RCV000351273; RCV000426045;	N	MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000; MedGen:CN169374	2	219527335	219527335	-	C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.996C>T (p.Asn332=)	617	BCS1L	Benign/Likely benign	33946522	RCV000401829; RCV000310745; RCV000363248; RCV000677001; RCV000123833;	N	MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000; MedGen:CN517202; MedGen:CN169374	2	219527712	219527712	-	C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.1017T>C (p.Pro339=)	617	BCS1L	Benign/Likely benign	35843327	RCV000323471; RCV000361877; RCV000270977; RCV000677002; RCV000123835;	N	MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3541471,OMIM:124000; MedGen:CN517202; MedGen:CN169374	2	219527866	219527866	-	C1864002 603358 GRACILE syndrome;
NM_001303.3(COX10):c.-170C>G	1352	COX10	Uncertain significance	886052597	RCV000396008; RCV000278677;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	13972753	13972753	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.-112G>A	1352	COX10	Benign	6502330	RCV000390210; RCV000336039;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	13972811	13972811	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.-109G>A	1352	COX10	Likely benign	28680987	RCV000301058; RCV000367476;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	13972814	13972814	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.-90G>T	1352	COX10	Uncertain significance	886052598	RCV000307762; RCV000407367;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	13972833	13972833	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.-63C>T	1352	COX10	Uncertain significance	77877576	RCV000362420; RCV000277116;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	13972860	13972860	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.-40G>A	1352	COX10	Uncertain significance	376921957	RCV000368067; RCV000332179;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	13972883	13972883	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.-29C>A	1352	COX10	Uncertain significance	373184679	RCV000319115; RCV000273590;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	13972894	13972894	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.-24G>A	1352	COX10	Uncertain significance	201257809	RCV000373740; RCV000279297;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	13972899	13972899	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.33C>T (p.Arg11=)	1352	COX10	Benign/Likely benign	8076787	RCV000315716; RCV000379378; RCV000676603; RCV000124570;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	17	13972955	13972955	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.64T>A (p.Trp22Arg)	1352	COX10	Uncertain significance	540737897	RCV000339864; RCV000284888;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	13977660	13977660	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.83C>T (p.Thr28Ile)	1352	COX10	Benign/Likely benign	16948978	RCV000385025; RCV000290887; RCV000676604; RCV000124569;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	17	13977679	13977679	UniProtKB (protein):Q12887#VAR_057371	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.123G>A (p.Arg41=)	1352	COX10	Uncertain significance	886052599	RCV000400516; RCV000345876;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	13977719	13977719	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.173G>A (p.Arg58His)	1352	COX10	Uncertain significance	772223730	RCV000351189; RCV000315497;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	13977769	13977769	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.184A>T (p.Thr62Ser)	1352	COX10	Benign/Likely benign	2230351	RCV000401023; RCV000311575; RCV000676605; RCV000124571;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	17	13980058	13980058	UniProtKB (protein):Q12887#VAR_057372	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.192G>A (p.Leu64=)	1352	COX10	Uncertain significance	569444237	RCV000262578; RCV000357092;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	13980066	13980066	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.290A>G (p.Tyr97Cys)	1352	COX10	Benign/Likely benign	16948986	RCV000353817; RCV000298992; RCV000676606; RCV000124572;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	17	13980164	13980164	UniProtKB (protein):Q12887#VAR_057373	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.311C>T (p.Pro104Leu)	1352	COX10	Uncertain significance	202207627	RCV000764102; RCV000764102; RCV000521510;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202	17	13980185	13980185	-	CN169374 not specified;
NM_001303.3(COX10):c.476G>A (p.Arg159Gln)	1352	COX10	Benign	2072279	RCV000322790; RCV000268376; RCV000676607; RCV000124574;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	17	13980350	13980350	UniProtKB (protein):Q12887#VAR_060233	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.504G>A (p.Leu168=)	1352	COX10	Benign	2159132	RCV000377462; RCV000264198; RCV000676608; RCV000124568;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	17	14005439	14005439	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.543G>A (p.Pro181=)	1352	COX10	Uncertain significance	371273328	RCV000328617; RCV000383020;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14005478	14005478	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.624+4A>G	1352	COX10	Uncertain significance	199668725	RCV000343670; RCV000288666;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14005563	14005563	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.699A>G (p.Pro233=)	1352	COX10	Benign	2230354	RCV000294930; RCV000388928; RCV000124560;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374	17	14095309	14095309	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.909C>T (p.Ala303=)	1352	COX10	Uncertain significance	370260574	RCV000349796; RCV000398956;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14095519	14095519	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.928+12G>A	1352	COX10	Benign/Likely benign	200573622	RCV000300689; RCV000337122; RCV000124563;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374	17	14095550	14095550	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.929-9_929-7dupCCC	1352	COX10	Likely benign	144296730	RCV000297390; RCV000399268;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14110118	14110120	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.929-7C>T	1352	COX10	Conflicting interpretations of pathogenicity	62052075	RCV000361435; RCV000265719; RCV000676610; RCV000179820;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	17	14110120	14110120	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.981C>T (p.Asn327=)	1352	COX10	Conflicting interpretations of pathogenicity	146175179	RCV000302186; RCV000366250; RCV000513362; RCV000124565;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	17	14110179	14110179	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.1027T>C (p.Cys343Arg)	1352	COX10	Uncertain significance	200818252	RCV000764103; RCV000764103; RCV000442977;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202	17	14110225	14110225	-	CN517202 not provided;
NM_001303.3(COX10):c.1038G>A (p.Ser346=)	1352	COX10	Benign/Likely benign	2230355	RCV000326474; RCV000271444; RCV000124566;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374	17	14110236	14110236	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.1061G>A (p.Arg354Gln)	1352	COX10	Uncertain significance	745492359	RCV000764104; RCV000764104; RCV000513659;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202	17	14110259	14110259	-	CN517202 not provided;
NM_001303.3(COX10):c.*13G>A	1352	COX10	Uncertain significance	371047487	RCV000381042; RCV000277182;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14110543	14110543	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.150_152delTTT	1352	COX10	Uncertain significance	200239586	RCV000292276; RCV000319360;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14110680	14110682	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.151_152delTT	1352	COX10	Benign	200239586	RCV000332249; RCV000386652;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14110681	14110682	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*152T>A	1352	COX10	Uncertain significance	886052602	RCV000373974; RCV000279241;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14110682	14110682	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*297G>A	1352	COX10	Likely benign	8076247	RCV000396612; RCV000334328;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14110827	14110827	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*322T>C	1352	COX10	Benign	11078233	RCV000341057; RCV000285265;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14110852	14110852	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*371A>G	1352	COX10	Benign	11078234	RCV000310611; RCV000389973;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14110901	14110901	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*408G>A	1352	COX10	Uncertain significance	886052603	RCV000398965; RCV000365321;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14110938	14110938	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*438G>C	1352	COX10	Likely benign	75823746	RCV000371382; RCV000307272;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14110968	14110968	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*535C>A	1352	COX10	Uncertain significance	886052604	RCV000331353; RCV000276817;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14111065	14111065	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*564dupG	1352	COX10	Uncertain significance	886052605	RCV000263806; RCV000367377;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14111094	14111094	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.591_592delAT	1352	COX10	Uncertain significance	886052606	RCV000373561; RCV000318962;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14111121	14111122	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*628C>G	1352	COX10	Uncertain significance	886052607	RCV000279032; RCV000324664;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14111158	14111158	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*646C>A	1352	COX10	Benign	7214082	RCV000282929; RCV000379280;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14111176	14111176	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*646C>G	1352	COX10	Uncertain significance	7214082	RCV000395029; RCV000347246;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14111176	14111176	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*739A>G	1352	COX10	Uncertain significance	886052608	RCV000343596; RCV000288864;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14111269	14111269	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*757T>C	1352	COX10	Benign	1802618	RCV000390456; RCV000313440;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14111287	14111287	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*823C>T	1352	COX10	Uncertain significance	886052609	RCV000402295; RCV000368052;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14111353	14111353	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.833_834delCT	1352	COX10	Benign	397763766	RCV000355513; RCV000300799;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14111363	14111364	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*974C>A	1352	COX10	Likely benign	2071245	RCV000260745; RCV000316091;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14111504	14111504	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*1076T>C	1352	COX10	Benign	1050216	RCV000361388; RCV000266831;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14111606	14111606	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*1078C>T	1352	COX10	Likely benign	13183	RCV000376624; RCV000321981;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14111608	14111608	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*1101C>T	1352	COX10	Likely benign	75165393	RCV000328872; RCV000271535;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14111631	14111631	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*1324C>T	1352	COX10	Likely benign	75636595	RCV000288971; RCV000381119;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14111854	14111854	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*1367G>A	1352	COX10	Uncertain significance	555512140	RCV000350985; RCV000389123;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14111897	14111897	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*1385C>T	1352	COX10	Likely benign	1050223	RCV000292528; RCV000349607;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14111915	14111915	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001303.3(COX10):c.*1459delC	1352	COX10	Uncertain significance	574015313	RCV000394845; RCV000300582;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	14111989	14111989	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_001320974.1(COX15):c.532C>T (p.Arg178Cys)	1355	COX15	Likely pathogenic	192078749	RCV000625907;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	10	101486775	101486775	-	C0023264 256000 Leigh syndrome;
NM_004376.6(COX15):c.452C>G (p.Ser151Ter)	1355	COX15	Conflicting interpretations of pathogenicity	149718203	RCV000586150; RCV000033254; RCV000599531;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1850599; MedGen:CN517202	10	101486855	101486855	OMIM Allelic Variant:603646.0003	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.-8G>T	1738	DLD	Uncertain significance	372155330	RCV000367380; RCV000405448; RCV000309229;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107531688	107531688	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.34G>A (p.Ala12Thr)	1738	DLD	Conflicting interpretations of pathogenicity	75077312	RCV000269642; RCV000363950; RCV000324743; RCV000676797; RCV000124698;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN517202; MedGen:CN169374	7	107531729	107531729	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.74A>C (p.Gln25Pro)	1738	DLD	Uncertain significance	61749951	RCV000266066; RCV000321362; RCV000360727;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107533679	107533679	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.100A>G (p.Thr34Ala)	1738	DLD	Uncertain significance	138002793	RCV000281549; RCV000376021; RCV000317845; RCV000487629; RCV000367820;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN517202; MedGen:CN169374	7	107533705	107533705	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.116C>T (p.Pro39Leu)	1738	DLD	Uncertain significance	766396602	RCV000371459; RCV000295703; RCV000350667;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107533721	107533721	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.117G>A (p.Pro39=)	1738	DLD	Uncertain significance	751621846	RCV000386565; RCV000293134; RCV000348029;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107533722	107533722	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.249T>C (p.Val83=)	1738	DLD	Conflicting interpretations of pathogenicity	2228664	RCV000344385; RCV000308340; RCV000653831; RCV000393062; RCV000676798; RCV000124687;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:CN043137,OMIM:246900; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN517202; MedGen:CN1693	7	107542820	107542820	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.267+15delT	1738	DLD	Uncertain significance	886061906	RCV000304750; RCV000359444; RCV000393088;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107542853	107542853	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.439-7T>C	1738	DLD	Benign/Likely benign	10263341	RCV000355848; RCV000301000; RCV000611867; RCV000264516; RCV000676799; RCV000179713;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:CN043137,OMIM:246900; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN517202; MedGen:CN1693	7	107545799	107545799	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.543A>T (p.Ile181=)	1738	DLD	Conflicting interpretations of pathogenicity	61749952	RCV000261104; RCV000333518; RCV000653830; RCV000388010; RCV000676800; RCV000179714;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:CN043137,OMIM:246900; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN517202; MedGen:CN1693	7	107545910	107545910	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.677T>C (p.Val226Ala)	1738	DLD	Uncertain significance	750449027	RCV000329949; RCV000384659; RCV000274781;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107546806	107546806	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.684+7G>A	1738	DLD	Benign/Likely benign	75123588	RCV000345292; RCV000381208; RCV000290221; RCV000676801; RCV000124691;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN517202; MedGen:CN169374	7	107546820	107546820	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.685-14T>A	1738	DLD	Benign/Likely benign	80111449	RCV000341290; RCV000408393; RCV000286283; RCV000124692;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN169374	7	107555937	107555937	-	C0023264 256000 Leigh syndrome;
NM_000108.3(DLD):c.763A>C (p.Met255Leu)	1738	DLD	Uncertain significance	533405046	RCV000408335; RCV000338182; RCV000298315; RCV000185855;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN517202	7	107556029	107556029	-
NM_000108.4(DLD):c.860G>A (p.Gly287Glu)	1738	DLD	Uncertain significance	202125745	RCV000313980; RCV000277653; RCV000353225;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107556126	107556126	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.1228A>C (p.Lys410Gln)	1738	DLD	Uncertain significance	886061907	RCV000274169; RCV000368770; RCV000329018;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107557899	107557899	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.1351C>T (p.Leu451=)	1738	DLD	Benign/Likely benign	1803921	RCV000270612; RCV000325649; RCV000383620; RCV000676804; RCV000124695;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN517202; MedGen:CN169374	7	107558483	107558483	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.1465-7C>G	1738	DLD	Uncertain significance	886061908	RCV000286136; RCV000380507; RCV000322294;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107559632	107559632	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.1503G>A (p.Ala501=)	1738	DLD	Uncertain significance	766286119	RCV000282664; RCV000376969; RCV000337641;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107559677	107559677	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*18A>T	1738	DLD	Benign	8721	RCV000279168; RCV000400340; RCV000616747; RCV000350587; RCV000590748; RCV000124697;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:CN043137,OMIM:246900; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN517202; MedGen:CN1693	7	107559722	107559722	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*28G>T	1738	DLD	Benign	17154615	RCV000313165; RCV000365418; RCV000392922;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107559732	107559732	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*167T>C	1738	DLD	Uncertain significance	886061909	RCV000307241; RCV000364131; RCV000404165;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107559871	107559871	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*207G>A	1738	DLD	Benign	4564	RCV000358247; RCV000267242; RCV000324559;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107559911	107559911	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*225C>T	1738	DLD	Uncertain significance	553824101	RCV000318777; RCV000265942; RCV000375475;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107559929	107559929	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*355A>G	1738	DLD	Uncertain significance	886061910	RCV000278861; RCV000317557; RCV000388349;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107560059	107560059	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*470G>A	1738	DLD	Uncertain significance	111619940	RCV000348657; RCV000401807; RCV000296036;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107560174	107560174	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*487C>T	1738	DLD	Benign	4518	RCV000393003; RCV000347564; RCV000290158;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107560191	107560191	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*498T>G	1738	DLD	Uncertain significance	886061911	RCV000360355; RCV000392998; RCV000307920;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107560202	107560202	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*648G>A	1738	DLD	Uncertain significance	57801571	RCV000359139; RCV000262043; RCV000302064;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107560352	107560352	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*855C>T	1738	DLD	Likely benign	116055514	RCV000353302; RCV000260770; RCV000319444;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107560559	107560559	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*947G>T	1738	DLD	Likely benign	7777259	RCV000332301; RCV000275277; RCV000386065;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107560651	107560651	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*978T>C	1738	DLD	Benign	2158835	RCV000328083; RCV000288290; RCV000384986;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107560682	107560682	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*1088A>G	1738	DLD	Uncertain significance	886061912	RCV000345560; RCV000287023; RCV000379115;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107560792	107560792	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*1092C>T	1738	DLD	Uncertain significance	546777301	RCV000339878; RCV000300180; RCV000399965;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107560796	107560796	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*1307C>T	1738	DLD	Uncertain significance	568807016	RCV000338714; RCV000408008; RCV000299103;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107561011	107561011	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*1451T>C	1738	DLD	Benign	2108223	RCV000370203; RCV000312034; RCV000276849;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107561155	107561155	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*1688G>A	1738	DLD	Likely benign	8440	RCV000329448; RCV000272023; RCV000369006;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107561392	107561392	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*1724C>G	1738	DLD	Uncertain significance	886061913	RCV000270720; RCV000381646; RCV000323562;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107561428	107561428	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*1736T>C	1738	DLD	Uncertain significance	190655078	RCV000380454; RCV000283475; RCV000340859;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107561440	107561440	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.1791_1794delTTTA	1738	DLD	Uncertain significance	760145994	RCV000282155; RCV000374539; RCV000335124;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107561495	107561498	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*1857A>C	1738	DLD	Uncertain significance	774099916	RCV000352477; RCV000313976; RCV000398521;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107561561	107561561	-	C0023264 256000 Leigh syndrome;
NM_000108.4(DLD):c.*1877A>G	1738	DLD	Uncertain significance	182010485	RCV000366005; RCV000308860; RCV000391649;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007	7	107561581	107561581	-	C0023264 256000 Leigh syndrome;
NM_002291.2(LAMB1):c.5225-7C>T	-1	DLD;LAMB1	Benign	3213673	RCV000363636; RCV000276408; RCV000325321; RCV000423681;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MeSH:D008375,MedGen:C0024776,OMIM:248600, Orphanet:ORPHA511,SNOMED CT:27718001; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN169374	7	107564539	107564539	-	C0023264 256000 Leigh syndrome;
NM_004092.3(ECHS1):c.5C>T (p.Ala2Val)	1892	ECHS1	Pathogenic	587776498	RCV000144497; RCV000167582; RCV000481050;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C4225391,OMIM:616277; MedGen:CN517202	10	135186833	135186833	OMIM Allelic Variant:602292.0004,UniProtKB (protein):P30084#VAR_073373	C0023264 256000 Leigh syndrome;
NM_004092.3(ECHS1):c.2T>G (p.Met1Arg)	1892	ECHS1	Pathogenic/Likely pathogenic	587776497	RCV000144496; RCV000167581;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C4225391,OMIM:616277	10	135186836	135186836	OMIM Allelic Variant:602292.0003	C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.-97A>G	-1	ERCC8;NDUFAF2	Benign	158922	RCV000337453; RCV000297972; RCV000401969;	N	MedGen:C0009207, Orphanet:ORPHA191,SNOMED CT:21086008; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	5	60240986	60240986	-	C0009207 Cockayne syndrome;
NM_174889.4(NDUFAF2):c.-91C>T	-1	ERCC8;NDUFAF2	Benign/Likely benign	4647036	RCV000373301; RCV000355199; RCV000262719;	N	MedGen:C0009207, Orphanet:ORPHA191,SNOMED CT:21086008; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	5	60240992	60240992	-	C0009207 Cockayne syndrome;
NM_174889.4(NDUFAF2):c.18T>G (p.Asp6Glu)	-1	ERCC8;NDUFAF2	Uncertain significance	886060726	RCV000668467; RCV000383048; RCV000326140;	N	MedGen:C0751039,OMIM:216400, Orphanet:ORPHA90321; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	5	60241100	60241100	-	C0751039 216400 Cockayne syndrome type A;
NM_174889.4(NDUFAF2):c.60G>A (p.Lys20=)	-1	ERCC8;NDUFAF2	Benign	158921	RCV000278856; RCV000348449; RCV000290995; RCV000676954; RCV000117705;	N	MedGen:C0009207, Orphanet:ORPHA191,SNOMED CT:21086008; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	5	60241142	60241142	-	C0009207 Cockayne syndrome;
NM_017547.3(FOXRED1):c.568C>T (p.Pro190Ser)	55572	FOXRED1	Uncertain significance	1555065162	RCV000662160; RCV000662159;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	126144853	126144853	-	C0023264 256000 Leigh syndrome;
NM_017547.3(FOXRED1):c.612_615dupAGTG (p.Ala206Serfs)	55572	FOXRED1	Pathogenic/Likely pathogenic	398124308	RCV000586362; RCV000190588; RCV000081797;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202	11	126144897	126144900	HGMD:CI120093	C0023264 256000 Leigh syndrome;
NM_017547.3(FOXRED1):c.754C>T (p.Arg252Cys)	55572	FOXRED1	Uncertain significance	146661281	RCV000763713; RCV000763713; RCV000514034;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257533,OMIM:252010; MedGen:CN517202	11	126145709	126145709	-	CN517202 not provided;
NM_017547.3(FOXRED1):c.1171T>G (p.Leu391Val)	55572	FOXRED1	Uncertain significance	138061928	RCV000763714; RCV000763714; RCV000199891;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257533,OMIM:252010; MedGen:CN517202	11	126147035	126147035	-	CN169374 not specified;
NM_024407.4(NDUFS7):c.*13C>A	-1	GAMT;NDUFS7	Benign/Likely benign	11551663	RCV000335492; RCV000390875; RCV000345055; RCV000127159;	N	MedGen:C0574080,OMIM:612736, Orphanet:ORPHA382,SNOMED CT:124239003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	19	1395500	1395500	-	C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_000156.5(GAMT):c.*311C>G	-1	GAMT;NDUFS7	Likely benign	266811	RCV000314996; RCV000282642; RCV000374817;	N	MedGen:C0574080,OMIM:612736, Orphanet:ORPHA382,SNOMED CT:124239003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	19	1397047	1397047	-	C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_000156.5(GAMT):c.*276C>T	-1	GAMT;NDUFS7	Likely benign	266810	RCV000369560; RCV000397956; RCV000340079;	N	MedGen:C0574080,OMIM:612736, Orphanet:ORPHA382,SNOMED CT:124239003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	19	1397082	1397082	-	C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_000156.5(GAMT):c.*151T>C	-1	GAMT;NDUFS7	Likely benign	659460	RCV000390864; RCV000343350; RCV000304781;	N	MedGen:C0574080,OMIM:612736, Orphanet:ORPHA382,SNOMED CT:124239003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	19	1397207	1397207	-	C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_000156.5(GAMT):c.*146A>C	-1	GAMT;NDUFS7	Benign/Likely benign	659455	RCV000310942; RCV000399238; RCV000308431;	N	MedGen:C0574080,OMIM:612736, Orphanet:ORPHA382,SNOMED CT:124239003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	19	1397212	1397212	-	C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_000156.5(GAMT):c.626C>T (p.Thr209Met)	-1	GAMT;NDUFS7	Benign/Likely benign	17851582	RCV000020144; RCV000715403; RCV000272863; RCV000311501; RCV000676877; RCV000117117;	N	MedGen:C0574080,OMIM:612736, Orphanet:ORPHA382,SNOMED CT:124239003; MedGen:C2711754; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	19	1397443	1397443	UniProtKB (protein):Q14353#VAR_025723	C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
NM_000156.5(GAMT):c.571-6G>A	-1	GAMT;NDUFS7	Benign/Likely benign	2074899	RCV000261636; RCV000276453; RCV000368554; RCV000676878; RCV000117116;	N	MedGen:C0574080,OMIM:612736, Orphanet:ORPHA382,SNOMED CT:124239003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	19	1397504	1397504	-	C0574080 612736 Deficiency of guanidinoacetate methyltransferase;
GRCh37/hg19 Xp22.33(chrX:2746025-2799731)x1	8908	GYG2	not provided	-1	RCV000509460;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	X	2746025	2799731	-	C0023264 256000 Leigh syndrome;
NM_018060.3(IARS2):c.1821G>A (p.Trp607Ter)	55699	IARS2	Conflicting interpretations of pathogenicity	373436822	RCV000144716; RCV000144955;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202	1	220300169	220300169	OMIM Allelic Variant:612801.0002	C0023264 256000 Leigh syndrome;
NM_018060.3(IARS2):c.2122G>A (p.Glu708Lys)	55699	IARS2	Likely benign	143722284	RCV000144717; RCV000144956; RCV000601238;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	1	220311332	220311332	OMIM Allelic Variant:612801.0003,UniProtKB (protein):Q9NSE4#VAR_072590	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*2376C>G	10128	LRPPRC	Uncertain significance	886056040	RCV000367651;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44113363	44113363	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*2277A>G	10128	LRPPRC	Uncertain significance	886056041	RCV000396240;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44113462	44113462	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*2245A>G	10128	LRPPRC	Uncertain significance	758080975	RCV000314407;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44113494	44113494	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*2176A>T	10128	LRPPRC	Likely benign	73924082	RCV000371259;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44113563	44113563	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*2099C>A	10128	LRPPRC	Uncertain significance	771863074	RCV000269765;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44113640	44113640	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*2048dupG	10128	LRPPRC	Uncertain significance	546907287	RCV000308061;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44113691	44113691	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*2041C>A	10128	LRPPRC	Uncertain significance	7581308	RCV000272856;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44113698	44113698	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*2041C>T	10128	LRPPRC	Uncertain significance	7581308	RCV000364997;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44113698	44113698	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1981A>T	10128	LRPPRC	Uncertain significance	180886841	RCV000320972;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44113758	44113758	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1961T>C	10128	LRPPRC	Uncertain significance	541683193	RCV000377959;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44113778	44113778	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1911G>A	10128	LRPPRC	Uncertain significance	533572540	RCV000267268;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44113828	44113828	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1895G>T	10128	LRPPRC	Uncertain significance	886056042	RCV000324711;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44113844	44113844	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1872C>T	10128	LRPPRC	Uncertain significance	147686285	RCV000372295;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44113867	44113867	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1816T>C	10128	LRPPRC	Uncertain significance	886056043	RCV000279438;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44113923	44113923	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1806A>C	10128	LRPPRC	Uncertain significance	886056044	RCV000336871;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44113933	44113933	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1665C>T	10128	LRPPRC	Benign	1139250	RCV000375009;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44114074	44114074	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1665C>G	10128	LRPPRC	Uncertain significance	1139250	RCV000292352;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44114074	44114074	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1653G>T	10128	LRPPRC	Uncertain significance	886056045	RCV000349460;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44114086	44114086	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1653G>A	10128	LRPPRC	Uncertain significance	886056045	RCV000403972;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44114086	44114086	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1587C>T	10128	LRPPRC	Uncertain significance	886056046	RCV000314499;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44114152	44114152	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1584G>A	10128	LRPPRC	Uncertain significance	372330583	RCV000343702;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44114155	44114155	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1564G>A	10128	LRPPRC	Uncertain significance	142436911	RCV000394805;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44114175	44114175	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1563C>T	10128	LRPPRC	Uncertain significance	186518252	RCV000308946;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44114176	44114176	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1498G>A	10128	LRPPRC	Uncertain significance	142253135	RCV000365911;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44114241	44114241	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1449_1456dupTTTTTTTT	10128	LRPPRC	Uncertain significance	57494476	RCV000264271;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44114283	44114290	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1445_1456dupTTTTTTTTTTTT	10128	LRPPRC	Uncertain significance	57494476	RCV000303246;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44114283	44114294	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1435delC	10128	LRPPRC	Uncertain significance	886056047	RCV000360363;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44114304	44114304	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1387_1390dupACTG	10128	LRPPRC	Uncertain significance	886056048	RCV000268045;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44114349	44114352	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1371C>T	10128	LRPPRC	Uncertain significance	111381413	RCV000316121;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44114368	44114368	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1343G>C	10128	LRPPRC	Uncertain significance	75002669	RCV000374358;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44114396	44114396	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1335T>C	10128	LRPPRC	Likely benign	76970610	RCV000263384;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44114404	44114404	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1152C>G	10128	LRPPRC	Uncertain significance	562361644	RCV000330263;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44114587	44114587	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1121G>T	10128	LRPPRC	Uncertain significance	371325663	RCV000387137;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44114618	44114618	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*1088G>C	10128	LRPPRC	Likely benign	79225555	RCV000294907;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44114651	44114651	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*825A>G	10128	LRPPRC	Likely benign	17031753	RCV000352077;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44114914	44114914	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*667C>T	10128	LRPPRC	Uncertain significance	533028399	RCV000381024;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44115072	44115072	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*647G>C	10128	LRPPRC	Uncertain significance	886056049	RCV000288927;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44115092	44115092	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*590C>T	10128	LRPPRC	Uncertain significance	886056050	RCV000346109;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44115149	44115149	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*577G>T	10128	LRPPRC	Uncertain significance	183378286	RCV000403685;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44115162	44115162	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*556A>T	10128	LRPPRC	Likely benign	1136998	RCV000301796;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44115183	44115183	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*534G>T	10128	LRPPRC	Uncertain significance	553327890	RCV000340290;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44115205	44115205	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*485C>T	10128	LRPPRC	Uncertain significance	886056051	RCV000404534;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44115254	44115254	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*456G>C	10128	LRPPRC	Uncertain significance	886056052	RCV000305130;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44115283	44115283	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*409C>G	10128	LRPPRC	Uncertain significance	187382374	RCV000352995;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44115330	44115330	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*399G>A	10128	LRPPRC	Uncertain significance	149268737	RCV000397846;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44115340	44115340	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.*343C>T	10128	LRPPRC	Uncertain significance	144519599	RCV000300194;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44115396	44115396	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.4177T>G (p.Ser1393Ala)	10128	LRPPRC	Uncertain significance	139493671	RCV000357354;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44115747	44115747	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.4156C>G (p.Leu1386Val)	10128	LRPPRC	Uncertain significance	886056053	RCV000274217;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44115768	44115768	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.3901-6T>G	10128	LRPPRC	Uncertain significance	553466522	RCV000331678; RCV000669691;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA70472	2	44121774	44121774	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.3900+15C>T	10128	LRPPRC	Likely benign	76850904	RCV000370188;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44123758	44123758	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.3900+14C>T	10128	LRPPRC	Benign	3795859	RCV000277937;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44123759	44123759	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.3737A>G (p.Asn1246Ser)	10128	LRPPRC	Uncertain significance	886056054	RCV000326024;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44126446	44126446	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.3641A>G (p.Gln1214Arg)	10128	LRPPRC	Uncertain significance	140482502	RCV000382937;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44126673	44126673	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.3595A>G (p.Asn1199Asp)	10128	LRPPRC	Benign/Likely benign	113974315	RCV000290393; RCV000513888; RCV000200020;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	2	44126719	44126719	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.3586G>A (p.Ala1196Thr)	10128	LRPPRC	Uncertain significance	142097048	RCV000329051;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44126728	44126728	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.3430C>T (p.Arg1144Cys)	10128	LRPPRC	Uncertain significance	760016065	RCV000376700; RCV000673209;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA70472	2	44128598	44128598	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.3364+6T>A	10128	LRPPRC	Uncertain significance	543620356	RCV000284952;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44132825	44132825	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.2966G>A (p.Arg989His)	10128	LRPPRC	Conflicting interpretations of pathogenicity	774857058	RCV000342224; RCV000675141; RCV000198211;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA70472; MedGen:CN517202	2	44145468	44145468	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.2965C>T (p.Arg989Cys)	10128	LRPPRC	Uncertain significance	199706677	RCV000405827; RCV000764412; RCV000196348;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA70472; MedGen:CN517202	2	44145469	44145469	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.2680C>T (p.Leu894Phe)	10128	LRPPRC	Uncertain significance	886056055	RCV000278916;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44161385	44161385	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.2562A>G (p.Val854=)	10128	LRPPRC	Benign/Likely benign	4494798	RCV000336341; RCV000676632; RCV000117557;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	2	44161960	44161960	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.2385C>T (p.Gly795=)	10128	LRPPRC	Conflicting interpretations of pathogenicity	886056056	RCV000402820; RCV000671831;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA70472	2	44170945	44170945	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.2325A>G (p.Lys775=)	10128	LRPPRC	Benign/Likely benign	139634347	RCV000311053; RCV000126655;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374	2	44171005	44171005	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.2228C>T (p.Ser743Phe)	10128	LRPPRC	Uncertain significance	779873239	RCV000368192;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44172539	44172539	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.2216G>A (p.Arg739His)	10128	LRPPRC	Uncertain significance	187274438	RCV000396384;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44172551	44172551	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.2118A>G (p.Glu706=)	10128	LRPPRC	Conflicting interpretations of pathogenicity	118188415	RCV000314446; RCV000612975;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374	2	44173344	44173344	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1928A>G (p.His643Arg)	10128	LRPPRC	Uncertain significance	148575027	RCV000362182; RCV000676634;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202	2	44174907	44174907	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1888C>T (p.Leu630=)	10128	LRPPRC	Benign/Likely benign	35881858	RCV000270035; RCV000126654;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374	2	44175293	44175293	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1863T>G (p.Asn621Lys)	10128	LRPPRC	Uncertain significance	762224854	RCV000327399; RCV000666539;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA70472	2	44175318	44175318	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1762T>G (p.Leu588Val)	10128	LRPPRC	Uncertain significance	775978547	RCV000365977;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44175631	44175631	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1677+11C>G	10128	LRPPRC	Likely benign	58811869	RCV000264344;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44177701	44177701	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1677+7C>T	10128	LRPPRC	Uncertain significance	374995996	RCV000321679;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44177705	44177705	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1674C>T (p.Ser558=)	10128	LRPPRC	Uncertain significance	376787135	RCV000378695;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44177715	44177715	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1583-14A>G	10128	LRPPRC	Conflicting interpretations of pathogenicity	372371276	RCV000286724; RCV000601360;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374	2	44184604	44184604	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1432A>G (p.Thr478Ala)	10128	LRPPRC	Benign/Likely benign	35035668	RCV000316057; RCV000223987; RCV000126651;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	2	44190783	44190783	UniProtKB (protein):P42704#VAR_052935	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1419T>C (p.Asp473=)	10128	LRPPRC	Conflicting interpretations of pathogenicity	886056057	RCV000373125; RCV000672876;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA70472	2	44190796	44190796	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1369+5G>A	10128	LRPPRC	Uncertain significance	199628926	RCV000280932; RCV000667137;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA70472	2	44200741	44200741	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1343G>T (p.Gly448Val)	10128	LRPPRC	Uncertain significance	886056058	RCV000338354; RCV000672191;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA70472	2	44200772	44200772	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1305T>C (p.Phe435=)	10128	LRPPRC	Uncertain significance	886056059	RCV000391337;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44200810	44200810	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1300G>A (p.Gly434Ser)	10128	LRPPRC	Uncertain significance	760756132	RCV000290261;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44200815	44200815	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1262-12T>C	10128	LRPPRC	Conflicting interpretations of pathogenicity	149449510	RCV000345203; RCV000600922;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374	2	44200865	44200865	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1156-8dupT	10128	LRPPRC	Conflicting interpretations of pathogenicity	747766605	RCV000405246; RCV000481416;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374	2	44201047	44201047	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.1068A>G (p.Gln356=)	10128	LRPPRC	Benign	4953042	RCV000314812; RCV000676637; RCV000117555;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	2	44201376	44201376	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.843C>T (p.Gly281=)	10128	LRPPRC	Uncertain significance	766703715	RCV000350853;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44202251	44202251	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.441T>C (p.His147=)	10128	LRPPRC	Uncertain significance	886056060	RCV000393281;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44206993	44206993	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.246G>A (p.Gln82=)	10128	LRPPRC	Benign	6741066	RCV000311110; RCV000676638; RCV000117556;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	2	44209477	44209477	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.179C>T (p.Ala60Val)	10128	LRPPRC	Uncertain significance	546399905	RCV000356535;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44209544	44209544	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.135C>T (p.Ala45=)	10128	LRPPRC	Conflicting interpretations of pathogenicity	886056061	RCV000261783; RCV000667549;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA70472	2	44222952	44222952	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.130C>G (p.Arg44Gly)	10128	LRPPRC	Uncertain significance	886056062	RCV000298282; RCV000673117;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA70472	2	44222957	44222957	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.114C>T (p.Ser38=)	10128	LRPPRC	Uncertain significance	886056063	RCV000352889;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44222973	44222973	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.96C>T (p.Gly32=)	10128	LRPPRC	Conflicting interpretations of pathogenicity	886056064	RCV000267713; RCV000667732;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA70472	2	44222991	44222991	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.79C>T (p.Leu27Phe)	10128	LRPPRC	Conflicting interpretations of pathogenicity	116727742	RCV000322781; RCV000757440; RCV000199980;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	2	44223008	44223008	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.74G>A (p.Arg25His)	10128	LRPPRC	Uncertain significance	780400922	RCV000377356; RCV000764415; RCV000592673;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1857355,OMIM:220111, Orphanet:ORPHA70472; MedGen:CN517202	2	44223013	44223013	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.70C>G (p.Leu24Val)	10128	LRPPRC	Uncertain significance	749629864	RCV000273157;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44223017	44223017	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.64C>G (p.Leu22Val)	10128	LRPPRC	Conflicting interpretations of pathogenicity	181626399	RCV000328289; RCV000676639; RCV000126661;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	2	44223023	44223023	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.58C>T (p.Leu20Phe)	10128	LRPPRC	Conflicting interpretations of pathogenicity	184339274	RCV000382726; RCV000757441; RCV000126659;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	2	44223029	44223029	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.41C>G (p.Ala14Gly)	10128	LRPPRC	Benign/Likely benign	114205971	RCV000288380; RCV000676640; RCV000126658;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	2	44223046	44223046	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.8C>T (p.Ala3Val)	10128	LRPPRC	Uncertain significance	886056065	RCV000352770;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44223079	44223079	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.-11A>G	10128	LRPPRC	Conflicting interpretations of pathogenicity	188424940	RCV000388653; RCV000126657;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374	2	44223097	44223097	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.-19C>G	10128	LRPPRC	Uncertain significance	574328970	RCV000294384;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44223105	44223105	-	C0023264 256000 Leigh syndrome;
NM_133259.3(LRPPRC):c.-45G>A	10128	LRPPRC	Benign	11124961	RCV000349366;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	2	44223131	44223131	-	C0023264 256000 Leigh syndrome;
NM_023936.1(MRPS34):c.321+1G>T	65993	MRPS34	Pathogenic	1161932777	RCV000505529; RCV000585740;	N	MedGen:C4540029,OMIM:617664; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	16	1822799	1822799	OMIM Allelic Variant:611994.0001	C4540029 617664 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32;
NM_023936.1(MRPS34):c.37G>A (p.Glu13Lys)	65993	MRPS34	Likely pathogenic	1131692037	RCV000505523; RCV000494696;	N	MedGen:C4540029,OMIM:617664; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	16	1823084	1823084	OMIM Allelic Variant:611994.0003	C4540029 617664 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32;
NC_012920.1:m.8839G>C	4508	MT-ATP6	Pathogenic	1556423547	RCV000144024; RCV000495688;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C0751651, Orphanet:ORPHA68380	M	8839	8839	-	C0023264 256000 Leigh syndrome;
m.8851T>C	4508	MT-ATP6	Pathogenic	199476136	RCV000144005; RCV000010280;	Y	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1839022,OMIM:500003	M	8851	8851	OMIM Allelic Variant:516060.0006	C0023264 256000 Leigh syndrome;
NC_012920.1:m.8989G>C	4508	MT-ATP6	Pathogenic	587776444	RCV000144025;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	M	8989	8989	-	C0023264 256000 Leigh syndrome;
m.8993T>C	4508	MT-ATP6	Pathogenic	199476133	RCV000010276; RCV000010275; RCV000754647; RCV000495030;	Y	MedGen:C1838916,OMIM:500010; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3275684,OMIM:500015; MedGen:C0751651, Orphanet:ORPHA68380	M	8993	8993	OMIM Allelic Variant:516060.0002	C1838916 500010 Ataxia and polyneuropathy, adult-onset;
m.9176T>C	4508	MT-ATP6	Pathogenic	199476135	RCV000010279; RCV000754652; RCV000010278;	Y	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3275684,OMIM:500015; MedGen:C1839022,OMIM:500003	M	9176	9176	OMIM Allelic Variant:516060.0005	C0023264 256000 Leigh syndrome;
m.9176T>G	4508	MT-ATP6	Pathogenic	199476135	RCV000010285; RCV000754649;	Y	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3275684,OMIM:500015	M	9176	9176	OMIM Allelic Variant:516060.0011	C0023264 256000 Leigh syndrome;
m.9185T>C	4508	MT-ATP6	Pathogenic	199476138	RCV000240612; RCV000010282; RCV000754648; RCV000495689;	Y	MedGen:C0007959, Orphanet:ORPHA166,SNOMED CT:50548001; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C3275684,OMIM:500015; MedGen:C0751651, Orphanet:ORPHA68380	M	9185	9185	OMIM Allelic Variant:516060.0008	C0007959 Charcot-Marie-Tooth disease;
m.9191T>C	4508	MT-ATP6	Pathogenic	1556423632	RCV000144006;	Y	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	M	9191	9191	-	C0023264 256000 Leigh syndrome;
NC_012920.1:m.9478T>C	4514	MT-CO3	Pathogenic	587776437	RCV000144007;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	M	9478	9478	-	C0023264 256000 Leigh syndrome;
m.9537dupC	4514	MT-CO3	Pathogenic	267606614	RCV000010292; RCV000144008;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	M	9537	9537	OMIM Allelic Variant:516050.0005	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NC_012920.1:m.3460G>A	4535	MT-ND1	Pathogenic	199476118	RCV000010370; RCV000143998; RCV000735416; RCV000757484;	Y	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; na; MedGen:CN517202	M	3460	3460	OMIM Allelic Variant:516000.0001	C0917796 535000 Leber's optic atrophy;
NC_012920.1:m.3481G>A	4535	MT-ND1	Pathogenic	587776433	RCV000143999;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	M	3481	3481	-	C0023264 256000 Leigh syndrome;
NC_012920.1:m.3890G>A	4535	MT-ND1	Pathogenic	587776434	RCV000144000;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	M	3890	3890	-	C0023264 256000 Leigh syndrome;
NC_012920.1:m.3928G>C	4535	MT-ND1	Pathogenic	587776442	RCV000144023;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	M	3928	3928	-	C0023264 256000 Leigh syndrome;
m.4681T>C	4536	MT-ND2	Pathogenic	267606889	RCV000144022; RCV000010369;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1838951	M	4681	4681	OMIM Allelic Variant:516001.0006	C0023264 256000 Leigh syndrome;
NC_012920.1:m.10134C>A	4537	MT-ND3	Pathogenic	587780529	RCV000144458;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	M	10134	10134	-	C0023264 256000 Leigh syndrome;
m.10158T>C	4537	MT-ND3	Pathogenic	199476117	RCV000144009; RCV000010360; RCV000224598;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257501,OMIM:500014; MedGen:CN517202	M	10158	10158	OMIM Allelic Variant:516002.0003	C0023264 256000 Leigh syndrome;
m.10191T>C	4537	MT-ND3	Pathogenic	267606890	RCV000144010; RCV000010358;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257501,OMIM:500014	M	10191	10191	OMIM Allelic Variant:516002.0001	C0023264 256000 Leigh syndrome;
m.10197G>A	4537	MT-ND3	Pathogenic	267606891	RCV000010363; RCV000144011; RCV000010362; RCV000507278;	N	MedGen:C1839040,OMIM:500001; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257501,OMIM:500014; MedGen:CN517202	M	10197	10197	OMIM Allelic Variant:516002.0004	C1839040 500001 Leber hereditary optic neuropathy with dystonia;
NC_012920.1:m.10254G>A	4537	MT-ND3	Pathogenic	587776438	RCV000144012;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	M	10254	10254	-	C0023264 256000 Leigh syndrome;
m.11777C>A	4538	MT-ND4	Pathogenic	28384199	RCV000144013; RCV000010357;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	M	11777	11777	OMIM Allelic Variant:516003.0004	C0023264 256000 Leigh syndrome;
NC_012920.1:m.11984T>C	4538	MT-ND4	Pathogenic	200911567	RCV000144014;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	M	11984	11984	-	C0023264 256000 Leigh syndrome;
m.12706T>C	4540	MT-ND5	Pathogenic	267606893	RCV000144015; RCV000010338;	Y	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1838951	M	12706	12706	OMIM Allelic Variant:516005.0003	C0023264 256000 Leigh syndrome;
m.13513G>A	-1	MT-ND5;MT-TL1	Pathogenic	267606897	RCV000010345; RCV000144016; RCV000010346; RCV000494941; RCV000224472;	Y	MedGen:C0162671,OMIM:540000, Orphanet:ORPHA550,SNOMED CT:39925003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1838951; MedGen:C0751651, Orphanet:ORPHA68380; MedGen:CN517202	M	13513	13513	OMIM Allelic Variant:516005.0007	C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NC_012920.1:m.13514A>G	-1	MT-ND5;MT-TL1	Pathogenic	587776440	RCV000144017;	Y	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	M	13514	13514	-	C0023264 256000 Leigh syndrome;
m.14459G>A	4541	MT-ND6	Pathogenic	199476105	RCV000010326; RCV000010327; RCV000144019; RCV000010328;	N	MedGen:C1839040,OMIM:500001; Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1838951	M	14459	14459	OMIM Allelic Variant:516006.0002	C1839040 500001 Leber hereditary optic neuropathy with dystonia;
NC_012920.1:m.14484T>C	4541	MT-ND6	Pathogenic	199476104	RCV000010325; RCV000144018; RCV000223709;	Y	Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202	M	14484	14484	OMIM Allelic Variant:516006.0001	C0917796 535000 Leber's optic atrophy;
m.14487T>C	4541	MT-ND6	Pathogenic	199476109	RCV000144020; RCV000010333; RCV000010334;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1838951; MedGen:C1838954	M	14487	14487	OMIM Allelic Variant:516006.0007	C0023264 256000 Leigh syndrome;
m.8344A>G	4566	MT-TK	Conflicting interpretations of pathogenicity	118192098	RCV000010193; RCV000495310; RCV000010192; RCV000010194; RCV000224965;	Y	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C0751651, Orphanet:ORPHA68380; MedGen:C0162672,OMIM:545000, Orphanet:ORPHA551; MedGen:C1838867,OMIM:556500; MedGen:CN517202	M	8344	8344	OMIM Allelic Variant:590060.0001	C0023264 256000 Leigh syndrome;
m.8363G>A	4566	MT-TK	Pathogenic	118192100	RCV000010197; RCV000144004; RCV000192053;	Y	MedGen:C4016620; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C0162672,OMIM:545000, Orphanet:ORPHA551	M	8363	8363	OMIM Allelic Variant:590060.0003	C4016620 Cardiomyopathy and Deafness;
m.1624C>T	4577	MT-TV	Pathogenic	199476144	RCV000010158; RCV000010157;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; Human Phenotype Ontology:HP:0003811,MedGen:C0410916	M	1624	1624	OMIM Allelic Variant:590105.0002	C0023264 256000 Leigh syndrome;
NC_012920.1:m.1644G>T	4577	MT-TV	Pathogenic	587776441	RCV000144021;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	M	1644	1644	-	C0023264 256000 Leigh syndrome;
NC_012920.1:m.5523T>G	4578	MT-TW	Pathogenic	587776435	RCV000144001;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	M	5523	5523	-	C0023264 256000 Leigh syndrome;
m.5537_5538insT	4578	MT-TW	Pathogenic	199474672	RCV000010165; RCV000010164;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; Human Phenotype Ontology:HP:0006789,MedGen:C1852373	M	5537	5538	OMIM Allelic Variant:590095.0002	C0023264 256000 Leigh syndrome;
NC_012920.1:m.5559A>G	4578	MT-TW	Pathogenic	1556423008	RCV000144003;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	M	5559	5559	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3557G>A	4705	NDUFA10	Uncertain significance	149933652	RCV000282070; RCV000334827;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240896978	240896978	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3450G>A	4705	NDUFA10	Likely benign	7573892	RCV000407125; RCV000313749;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240897085	240897085	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3408T>C	4705	NDUFA10	Uncertain significance	886055810	RCV000405985; RCV000370283;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240897127	240897127	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3349G>A	4705	NDUFA10	Uncertain significance	77216981	RCV000364536; RCV000312144;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240897186	240897186	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3205G>A	4705	NDUFA10	Uncertain significance	886055811	RCV000325291; RCV000272597;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240897330	240897330	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3204C>T	4705	NDUFA10	Likely benign	34277046	RCV000266639; RCV000363605;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240897331	240897331	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3141C>T	4705	NDUFA10	Uncertain significance	144864637	RCV000378087; RCV000321071;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240897394	240897394	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3113G>A	4705	NDUFA10	Uncertain significance	886055812	RCV000281251; RCV000319847;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240897422	240897422	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3098A>T	4705	NDUFA10	Uncertain significance	886055813	RCV000279849; RCV000372049;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240897437	240897437	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3075T>G	4705	NDUFA10	Uncertain significance	7588974	RCV000408158; RCV000351219;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240897460	240897460	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*3067C>T	4705	NDUFA10	Uncertain significance	564992184	RCV000293130; RCV000350383;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240897468	240897468	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2997G>A	4705	NDUFA10	Uncertain significance	886055814	RCV000310655; RCV000408151;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240897538	240897538	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2685C>A	4705	NDUFA10	Uncertain significance	114807372	RCV000403818; RCV000363196;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240897850	240897850	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2649G>A	4705	NDUFA10	Uncertain significance	886055815	RCV000362023; RCV000305026;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240897886	240897886	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2602C>T	4705	NDUFA10	Likely benign	58261980	RCV000263944; RCV000321470;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240897933	240897933	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2495C>T	4705	NDUFA10	Uncertain significance	78395168	RCV000355304; RCV000263762;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240898040	240898040	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2397A>G	4705	NDUFA10	Uncertain significance	886055816	RCV000373549; RCV000316615;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240898138	240898138	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2309G>A	4705	NDUFA10	Likely benign	1132778	RCV000276578; RCV000334028;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240898226	240898226	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2297T>G	4705	NDUFA10	Uncertain significance	773090030	RCV000294050; RCV000386093;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240898238	240898238	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2192T>A	4705	NDUFA10	Uncertain significance	886055817	RCV000346747; RCV000384939;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240898343	240898343	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2149C>T	4705	NDUFA10	Uncertain significance	570872300	RCV000345362; RCV000288049;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240898386	240898386	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2111G>A	4705	NDUFA10	Uncertain significance	752139055	RCV000392087; RCV000305816;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240898424	240898424	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*2042A>C	4705	NDUFA10	Uncertain significance	886055818	RCV000405302; RCV000340471;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240898493	240898493	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1957G>A	4705	NDUFA10	Likely benign	4854069	RCV000300653; RCV000353226;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240898578	240898578	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.1923_1924insA	4705	NDUFA10	Likely benign	138899326	RCV000260857; RCV000313673;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240898611	240898612	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1915G>A	4705	NDUFA10	Uncertain significance	144590599	RCV000273905; RCV000370813;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240898620	240898620	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.1894_1914del21insGGG	4705	NDUFA10	Uncertain significance	886055819	RCV000330773; RCV000383047;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240898621	240898641	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1884G>C	4705	NDUFA10	Uncertain significance	886055820	RCV000325365; RCV000272672;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240898651	240898651	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1262C>T	4705	NDUFA10	Uncertain significance	759194775	RCV000382246; RCV000285514;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240899273	240899273	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1229C>G	4705	NDUFA10	Likely benign	55998047	RCV000342719; RCV000376401;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240899306	240899306	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1214C>T	4705	NDUFA10	Uncertain significance	546735567	RCV000337345; RCV000284687;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240899321	240899321	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1212T>C	4705	NDUFA10	Uncertain significance	886055821	RCV000297697; RCV000407435;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240899323	240899323	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1189C>T	4705	NDUFA10	Likely benign	66534347	RCV000407422; RCV000336034;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240899346	240899346	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1129G>A	4705	NDUFA10	Uncertain significance	886055822	RCV000367481; RCV000315183;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240899406	240899406	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*1011A>G	4705	NDUFA10	Uncertain significance	575477219	RCV000309561; RCV000275465;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240899524	240899524	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*925C>G	4705	NDUFA10	Uncertain significance	149563558	RCV000366444; RCV000269623;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240899610	240899610	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*740C>T	4705	NDUFA10	Uncertain significance	886055823	RCV000327138; RCV000360871;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240899795	240899795	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*647C>T	4705	NDUFA10	Uncertain significance	116254382	RCV000321400; RCV000268599;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240899888	240899888	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*631C>T	4705	NDUFA10	Likely benign	10933622	RCV000279152; RCV000373766;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240899904	240899904	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*546G>A	4705	NDUFA10	Uncertain significance	192485848	RCV000320098; RCV000374741;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240899989	240899989	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*489A>G	4705	NDUFA10	Uncertain significance	886055824	RCV000349229; RCV000294263;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240900046	240900046	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*438C>T	4705	NDUFA10	Likely benign	13396556	RCV000295440; RCV000408270;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240900097	240900097	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*414G>A	4705	NDUFA10	Likely benign	13424612	RCV000345516; RCV000408266;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240900121	240900121	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*412A>G	4705	NDUFA10	Uncertain significance	546052985	RCV000365252; RCV000310551;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240900123	240900123	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*407C>T	4705	NDUFA10	Likely benign	74614612	RCV000302356; RCV000405266;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240900128	240900128	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*389C>T	4705	NDUFA10	Uncertain significance	539829771	RCV000361689; RCV000267063;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240900146	240900146	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*361A>G	4705	NDUFA10	Uncertain significance	778261754	RCV000317150; RCV000353317;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240900174	240900174	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*308C>T	4705	NDUFA10	Likely benign	8369	RCV000263165; RCV000318301;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240900227	240900227	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.*105G>A	4705	NDUFA10	Uncertain significance	886055825	RCV000386938; RCV000292644;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240900430	240900430	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.1000-3C>G	4705	NDUFA10	Conflicting interpretations of pathogenicity	199648872	RCV000388170; RCV000333603; RCV000199808;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202	2	240900606	240900606	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.1000-5delC	4705	NDUFA10	Benign/Likely benign	138479490	RCV000289165; RCV000344109; RCV000676554; RCV000199510;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	2	240900608	240900608	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.865C>T (p.Arg289Cys)	4705	NDUFA10	Uncertain significance	762669820	RCV000290264; RCV000401972;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240944652	240944652	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.771A>G (p.Gln257=)	4705	NDUFA10	Likely benign	13848	RCV000392330; RCV000340422; RCV000676555; RCV000117700;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	2	240946766	240946766	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.749+11C>T	4705	NDUFA10	Uncertain significance	200760509	RCV000305494; RCV000360176;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240951023	240951023	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.549T>C (p.Cys183=)	4705	NDUFA10	Conflicting interpretations of pathogenicity	149783296	RCV000301141; RCV000392325; RCV000613561;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	2	240954276	240954276	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.548-9A>G	4705	NDUFA10	Conflicting interpretations of pathogenicity	147876332	RCV000355965; RCV000275112; RCV000676557; RCV000127100;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	2	240954286	240954286	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.270G>A (p.Gly90=)	4705	NDUFA10	Uncertain significance	770747594	RCV000311748; RCV000371039;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240960804	240960804	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.105A>G (p.Lys35=)	4705	NDUFA10	Likely benign	2083411	RCV000276426; RCV000326842; RCV000676559; RCV000117699;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	2	240961728	240961728	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.24G>A (p.Leu8=)	4705	NDUFA10	Benign/Likely benign	113012830	RCV000273080; RCV000381649; RCV000173349;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	2	240964695	240964695	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.5C>G (p.Ala2Gly)	4705	NDUFA10	Benign/Likely benign	11541494	RCV000328287; RCV000378198; RCV000676560; RCV000383086;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	2	240964714	240964714	UniProtKB (protein):O95299#VAR_034149	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.-36C>T	4705	NDUFA10	Uncertain significance	886055826	RCV000343470; RCV000283761;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240964754	240964754	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.-87A>C	4705	NDUFA10	Uncertain significance	886055827	RCV000279233; RCV000379454;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240964805	240964805	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.-92C>T	4705	NDUFA10	Uncertain significance	559797625	RCV000392831; RCV000335419;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240964810	240964810	-	C0023264 256000 Leigh syndrome;
NM_004544.3(NDUFA10):c.-93G>T	4705	NDUFA10	Uncertain significance	577432343	RCV000300216; RCV000350479;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	240964811	240964811	-	C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.-110A>C	91942	NDUFAF2	Uncertain significance	886060723	RCV000369739; RCV000312758;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	5	60240973	60240973	-	C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.-66G>C	91942	NDUFAF2	Uncertain significance	376045901	RCV000320170; RCV000358426;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	5	60241017	60241017	-	C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.-63G>T	91942	NDUFAF2	Uncertain significance	886060724	RCV000323536; RCV000266073;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	5	60241020	60241020	-	C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.-21_-20dupGC	91942	NDUFAF2	Uncertain significance	886060725	RCV000380475; RCV000268762;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	5	60241062	60241063	-	C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.98A>G (p.Tyr33Cys)	91942	NDUFAF2	Uncertain significance	779872068	RCV000294764; RCV000386723;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	5	60241180	60241180	-	C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.128-14C>G	91942	NDUFAF2	Uncertain significance	537327206	RCV000351951; RCV000399037;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	5	60368938	60368938	-	C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.139C>T (p.Arg47Ter)	91942	NDUFAF2	Pathogenic	137852863	RCV000624428; RCV000679870; RCV000001661;	N	MeSH:D030342,MedGen:C0950123; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257505,OMIM:618233	5	60368963	60368963	OMIM Allelic Variant:609653.0001	C0950123 Inborn genetic diseases;
NM_174889.4(NDUFAF2):c.196G>C (p.Asp66His)	91942	NDUFAF2	Uncertain significance	769579395	RCV000298358; RCV000336991;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	5	60369020	60369020	-	C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.221G>A (p.Trp74Ter)	91942	NDUFAF2	Pathogenic	772294726	RCV000587093;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	5	60394822	60394822	-	C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.414T>A (p.Phe138Leu)	91942	NDUFAF2	Uncertain significance	770172045	RCV000302238; RCV000400065;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	5	60448686	60448686	-	C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.422A>T (p.Glu141Val)	91942	NDUFAF2	Uncertain significance	749677218	RCV000359308; RCV000266885;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	5	60448694	60448694	-	C0023264 256000 Leigh syndrome;
NM_174889.4(NDUFAF2):c.462T>C (p.Phe154=)	91942	NDUFAF2	Conflicting interpretations of pathogenicity	77878573	RCV000305680; RCV000363788; RCV000676955; RCV000127122;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	5	60448734	60448734	-	C0023264 256000 Leigh syndrome;
NM_152416.3(NDUFAF6):c.719G>T (p.Gly240Val)	137682	NDUFAF6	Likely pathogenic	762620949	RCV000626222;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	8	96060689	96060689	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*966A>G	4719	NDUFS1	Uncertain significance	755776989	RCV000301641; RCV000358744;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206987943	206987943	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*866A>C	4719	NDUFS1	Uncertain significance	749790811	RCV000307294; RCV000398472;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206988043	206988043	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*846delT	4719	NDUFS1	Likely benign	58253838	RCV000329565; RCV000367850;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206988063	206988063	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*846dupT	4719	NDUFS1	Uncertain significance	58253838	RCV000271891; RCV000364348;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206988063	206988063	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*756A>T	4719	NDUFS1	Uncertain significance	755460274	RCV000275533; RCV000332991;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206988153	206988153	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*733A>G	4719	NDUFS1	Likely benign	6707707	RCV000278615; RCV000389432;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206988176	206988176	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*641A>G	4719	NDUFS1	Uncertain significance	886055501	RCV000317468; RCV000374378;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206988268	206988268	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*561T>C	4719	NDUFS1	Uncertain significance	146538309	RCV000339709; RCV000282324;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206988348	206988348	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*504G>A	4719	NDUFS1	Uncertain significance	548641207	RCV000394554; RCV000286009;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206988405	206988405	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*457T>A	4719	NDUFS1	Likely benign	4147728	RCV000342686; RCV000394556;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206988452	206988452	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*438C>T	4719	NDUFS1	Uncertain significance	561980718	RCV000364628; RCV000307565;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206988471	206988471	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*399G>A	4719	NDUFS1	Uncertain significance	77000728	RCV000402213; RCV000310899;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206988510	206988510	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*336G>T	4719	NDUFS1	Likely benign	1044120	RCV000275804; RCV000368047;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206988573	206988573	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*256C>T	4719	NDUFS1	Likely benign	10198830	RCV000333555; RCV000353381;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206988653	206988653	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*158T>C	4719	NDUFS1	Uncertain significance	3770989	RCV000318219; RCV000260695;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206988751	206988751	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*151T>C	4719	NDUFS1	Uncertain significance	533179154	RCV000375427; RCV000283276;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206988758	206988758	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*93dupA	4719	NDUFS1	Uncertain significance	200446477	RCV000378852; RCV000321842;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206988816	206988816	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*27C>T	4719	NDUFS1	Uncertain significance	369746514	RCV000288060; RCV000345317;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206988882	206988882	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.2006A>G (p.Asn669Ser)	4719	NDUFS1	Uncertain significance	142716964	RCV000397460; RCV000291718;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206991447	206991447	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.1516G>A (p.Val506Ile)	4719	NDUFS1	Uncertain significance	137889316	RCV000397471; RCV000348996;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206997706	206997706	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.1393-7delT	4719	NDUFS1	Uncertain significance	760292289	RCV000352020; RCV000313581;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	206997836	206997836	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.1371G>A (p.Ser457=)	4719	NDUFS1	Conflicting interpretations of pathogenicity	2230892	RCV000298259; RCV000399898; RCV000676270; RCV000127145;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	2	207003230	207003230	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.1363A>G (p.Ile455Val)	4719	NDUFS1	Uncertain significance	758095913	RCV000262962; RCV000355346;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	207003238	207003238	-	C0023264 256000 Leigh syndrome;
NM_001199981.1(NDUFS1):c.1143A>G (p.Arg381=)	4719	NDUFS1	Benign/Likely benign	1801318	RCV000358690; RCV000301574; RCV000676271; RCV000117709;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	2	207006676	207006676	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.1120A>G (p.Thr374Ala)	4719	NDUFS1	Uncertain significance	765436915	RCV000266394; RCV000323881; RCV000519440;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202	2	207007423	207007423	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.975C>T (p.Arg325=)	4719	NDUFS1	Benign/Likely benign	2230890	RCV000270808; RCV000381710; RCV000127141;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	2	207008754	207008754	-	C0023264 256000 Leigh syndrome;
NM_001199981.1(NDUFS1):c.858G>T (p.Ala286=)	4719	NDUFS1	Benign/Likely benign	1127566	RCV000385000; RCV000328157; RCV000676273; RCV000117710;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	2	207008763	207008763	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.551+14C>A	4719	NDUFS1	Benign/Likely benign	10206644	RCV000293249; RCV000350546; RCV000127140;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	2	207012241	207012241	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.421-7A>G	4719	NDUFS1	Conflicting interpretations of pathogenicity	192949406	RCV000296747; RCV000388644; RCV000127139;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	2	207012392	207012392	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.414T>C (p.Asp138=)	4719	NDUFS1	Benign/Likely benign	11548670	RCV000395218; RCV000334929; RCV000676275; RCV000127138;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	2	207012483	207012483	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.396C>A (p.Asp132Glu)	4719	NDUFS1	Uncertain significance	757139275	RCV000299872; RCV000338484;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	207012501	207012501	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.364G>A (p.Ala122Thr)	4719	NDUFS1	Uncertain significance	886055502	RCV000395226; RCV000303664;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	207012533	207012533	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.262-15delT	4719	NDUFS1	Uncertain significance	34184317	RCV000364669; RCV000307662;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	207013835	207013835	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.262-15dupT	4719	NDUFS1	Uncertain significance	34184317	RCV000268364; RCV000360707;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	207013835	207013835	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.154-10_154-9delTT	4719	NDUFS1	Uncertain significance	568965659	RCV000329832; RCV000272442; RCV000676276;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202	2	207014658	207014659	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.123C>T (p.Val41=)	4719	NDUFS1	Benign/Likely benign	2230888	RCV000386489; RCV000275731; RCV000127147;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	2	207017173	207017173	-	C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.-47C>G	4719	NDUFS1	Likely benign	4147707	RCV000371529; RCV000333207;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	2	207024107	207024107	-	C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.-41T>C	4722	NDUFS3	Uncertain significance	750965789	RCV000290487; RCV000347926;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	47600603	47600603	-	C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.-30C>T	4722	NDUFS3	Uncertain significance	375483884	RCV000392871; RCV000308294;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	47600614	47600614	-	C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.79C>T (p.Pro27Ser)	4722	NDUFS3	Conflicting interpretations of pathogenicity	368907187	RCV000342182; RCV000403906; RCV000197472;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	11	47600832	47600832	-	C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.91T>C (p.Leu31=)	4722	NDUFS3	Conflicting interpretations of pathogenicity	770306617	RCV000358793; RCV000301677; RCV000616791;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	11	47600844	47600844	-	C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.190T>C (p.Tyr64His)	4722	NDUFS3	Uncertain significance	886048391	RCV000261687; RCV000300392;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	47602133	47602133	-	C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.204C>G (p.Ile68Met)	4722	NDUFS3	Uncertain significance	886044765	RCV000293525; RCV000293525;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	47602147	47602147	-	C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.381+5G>T	4722	NDUFS3	Uncertain significance	886048392	RCV000352949; RCV000261462;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	47602541	47602541	-	C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.381+6T>C	4722	NDUFS3	Uncertain significance	377579231	RCV000332963; RCV000389911;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	47602542	47602542	-	C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.475G>C (p.Val159Leu)	4722	NDUFS3	Uncertain significance	148331180	RCV000331648; RCV000274500;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	47603733	47603733	-	C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.628-7C>T	4722	NDUFS3	Conflicting interpretations of pathogenicity	11039306	RCV000292090; RCV000383892; RCV000127156;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	11	47605859	47605859	-	C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.657G>A (p.Val219=)	4722	NDUFS3	Uncertain significance	377323760	RCV000325919; RCV000382544;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	47605895	47605895	-	C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.753T>G (p.Ser251Arg)	4722	NDUFS3	Uncertain significance	752314902	RCV000285816; RCV000342978;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	47605991	47605991	-	C0023264 256000 Leigh syndrome;
NM_004551.2(NDUFS3):c.783T>C (p.Pro261=)	4722	NDUFS3	Uncertain significance	117981655	RCV000284678; RCV000406732;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	47606021	47606021	-	C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.-22C>A	4724	NDUFS4	Uncertain significance	144843461	RCV000268982; RCV000365896;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	5	52856471	52856471	-	C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.12G>C (p.Val4=)	4724	NDUFS4	Benign	2279516	RCV000326276; RCV000387876; RCV000676473; RCV000117713;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	5	52856504	52856504	-	C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.13T>C (p.Ser5Pro)	4724	NDUFS4	Uncertain significance	149323691	RCV000329830; RCV000660466; RCV000295911; RCV000660466; RCV000198881;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202	5	52856505	52856505	-	C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.99-1G>A	4724	NDUFS4	Pathogenic	376281345	RCV000588112; RCV000007294;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257533,OMIM:252010	5	52899281	52899281	OMIM Allelic Variant:602694.0005	C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.102G>A (p.Ser34=)	4724	NDUFS4	Conflicting interpretations of pathogenicity	138941073	RCV000386502; RCV000280441; RCV000127157;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	5	52899285	52899285	-	C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.178-4G>C	4724	NDUFS4	Uncertain significance	200384843	RCV000395461; RCV000337873;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	5	52942059	52942059	-	C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.178-2A>G	4724	NDUFS4	Pathogenic	1554059248	RCV000578463;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	5	52942061	52942061	-	C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.198A>C (p.Gly66=)	4724	NDUFS4	Benign	31304	RCV000342200; RCV000280222; RCV000676474; RCV000117714;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	5	52942083	52942083	-	C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.312A>G (p.Arg104=)	4724	NDUFS4	Benign	31303	RCV000302455; RCV000398452; RCV000676475; RCV000117715;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	5	52942197	52942197	-	C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.351-11_351-8delGTTT	4724	NDUFS4	Conflicting interpretations of pathogenicity	375549253	RCV000390165; RCV000509247; RCV000359717; RCV000509247; RCV000481960;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	5	52954370	52954373	-	C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.355G>C (p.Asp119His)	4724	NDUFS4	Uncertain significance	-1	RCV000714800; RCV000714799;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	5	52954385	52954385	-
NM_002495.3(NDUFS4):c.424+19dupT	4724	NDUFS4	Likely benign	140172554	RCV000363200; RCV000310876;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	5	52954473	52954473	-	C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.462delA (p.Lys154Asnfs)	4724	NDUFS4	Pathogenic	587776949	RCV000586784; RCV000133549; RCV000197700;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257533,OMIM:252010; MedGen:CN517202	5	52978985	52978985	OMIM Allelic Variant:602694.0006	C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.470_471delCC (p.Ser157Terfs)	4724	NDUFS4	Pathogenic	1554062427	RCV000578386;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	5	52978993	52978994	-	C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.512_514dup (p.Arg171_Val172insGly)	4724	NDUFS4	Uncertain significance	1425486695	RCV000673864; RCV000673864;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	5	52979034	52979034	-	C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.*46G>A	4724	NDUFS4	Likely benign	567	RCV000313869; RCV000270413;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	5	52979097	52979097	-	C0023264 256000 Leigh syndrome;
NM_002495.3(NDUFS4):c.*79A>G	4724	NDUFS4	Uncertain significance	886060699	RCV000274350; RCV000370910;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	5	52979130	52979130	-	C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.21T>C (p.Pro7=)	374291	NDUFS7	Uncertain significance	201222388	RCV000287249; RCV000400936;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	19	1387814	1387814	-	C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.68C>T (p.Pro23Leu)	374291	NDUFS7	Likely benign	1142530	RCV000342300; RCV000407392; RCV000676449; RCV000117716;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	19	1388538	1388538	UniProtKB (protein):O75251#VAR_014482	C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.153C>T (p.Ala51=)	374291	NDUFS7	Conflicting interpretations of pathogenicity	140236960	RCV000365710; RCV000301558; RCV000127162;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	19	1388862	1388862	-	C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.270C>T (p.Ala90=)	374291	NDUFS7	Uncertain significance	375120743	RCV000405173; RCV000307576;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	19	1390911	1390911	-	C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.322G>A (p.Val108Met)	374291	NDUFS7	Uncertain significance	368174338	RCV000277814; RCV000362301;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	19	1390963	1390963	-	C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.408+10G>T	374291	NDUFS7	Benign/Likely benign	2074896	RCV000368788; RCV000332803; RCV000676450; RCV000127163;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	19	1391059	1391059	-	C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.561C>A (p.Ala187=)	374291	NDUFS7	Uncertain significance	144570086	RCV000319795; RCV000274190;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	19	1395406	1395406	-	C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.613C>G (p.Arg205Gly)	374291	NDUFS7	Uncertain significance	775856806	RCV000374513; RCV000279854; RCV000197172;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202	19	1395458	1395458	-	C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.*8G>A	374291	NDUFS7	Uncertain significance	756081375	RCV000290128; RCV000398809;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	19	1395495	1395495	-	C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.15_20delCCGCCG	374291	NDUFS7	Uncertain significance	3065757	RCV000285831; RCV000339391;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	19	1395502	1395507	-	C0023264 256000 Leigh syndrome;
NM_024407.4(NDUFS7):c.18_20delCCG	374291	NDUFS7	Uncertain significance	3065757	RCV000316210; RCV000380225;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	19	1395505	1395507	-	C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.-98G>A	4728	NDUFS8	Uncertain significance	886048591	RCV000310649; RCV000365206;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67798103	67798103	-	C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.-76C>T	4728	NDUFS8	Uncertain significance	544094420	RCV000275260; RCV000330456;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67798125	67798125	-	C0023264 256000 Leigh syndrome;
NM_002496.2(NDUFS8):c.4C>T (p.Arg2Cys)	4728	NDUFS8	Uncertain significance	150278938	RCV000765008; RCV000726015;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202	11	67799622	67799622	-
NM_002496.3(NDUFS8):c.64C>T (p.Pro22Ser)	4728	NDUFS8	Conflicting interpretations of pathogenicity	369602258	RCV000389629; RCV000276295; RCV000196794;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	11	67799758	67799758	-	C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.133G>A (p.Glu45Lys)	4728	NDUFS8	Uncertain significance	764943259	RCV000372098; RCV000317408;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67800413	67800413	-	C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.199+5G>A	4728	NDUFS8	Uncertain significance	373522607	RCV000282341; RCV000337029;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67800484	67800484	-	C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.199+15T>G	4728	NDUFS8	Benign	3115545	RCV000283040; RCV000377576;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67800494	67800494	-	C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.200-14C>T	4728	NDUFS8	Uncertain significance	373128833	RCV000342747; RCV000401109;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67800564	67800564	-	C0023264 256000 Leigh syndrome;
NM_002496.2(NDUFS8):c.236C>T (p.Pro79Leu)	4728	NDUFS8	Likely pathogenic	28939679	RCV000762861; RCV000007941; RCV000442702;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN257508,OMIM:618222; MedGen:CN517202	11	67800614	67800614	OMIM Allelic Variant:602141.0001,UniProtKB (protein):O00217#VAR_019538
NM_002496.3(NDUFS8):c.299C>T (p.Ala100Val)	4728	NDUFS8	Conflicting interpretations of pathogenicity	748754134	RCV000307867; RCV000344135; RCV000490220;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202	11	67800677	67800677	-	C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.343A>G (p.Lys115Glu)	4728	NDUFS8	Likely pathogenic	764276946	RCV000200148;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	11	67800721	67800721	-	C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.441G>C (p.Met147Ile)	4728	NDUFS8	Likely pathogenic	1267554976	RCV000578254;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	11	67803788	67803788	-	C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.459C>T (p.Cys153=)	4728	NDUFS8	Conflicting interpretations of pathogenicity	149201273	RCV000308579; RCV000390917; RCV000418827;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	11	67803806	67803806	-	C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.484G>A (p.Val162Met)	4728	NDUFS8	Uncertain significance	1277027467	RCV000625885;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	11	67803831	67803831	-	C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.501+12C>G	4728	NDUFS8	Uncertain significance	372004236	RCV000367973; RCV000390827;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67803860	67803860	-	C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.502-13C>T	4728	NDUFS8	Conflicting interpretations of pathogenicity	199793417	RCV000369510; RCV000314847; RCV000427186;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	11	67803916	67803916	-	C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.502-10C>T	4728	NDUFS8	Conflicting interpretations of pathogenicity	369961682	RCV000315895; RCV000260796; RCV000602666;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	11	67803919	67803919	-	C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.597C>T (p.Ile199=)	4728	NDUFS8	Conflicting interpretations of pathogenicity	1804688	RCV000356692; RCV000265926; RCV000437098;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	11	67804024	67804024	-	C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.598G>A (p.Ala200Thr)	4728	NDUFS8	Uncertain significance	578145610	RCV000380344; RCV000321000;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67804025	67804025	-	C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.*26T>G	4728	NDUFS8	Uncertain significance	886048592	RCV000291771; RCV000381321;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67804086	67804086	-	C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.*44C>T	4728	NDUFS8	Uncertain significance	201815115	RCV000352578; RCV000293152;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67804104	67804104	-	C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.*14C>T	-1	NDUFS8;TCIRG1	Benign/Likely benign	1051806	RCV000285968; RCV000326666; RCV000313524;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; Human Phenotype Ontology:HP:0011002,MedGen:C0029454, Orphanet:ORPHA2781	11	67804074	67804074	-	C0023264 256000 Leigh syndrome;
NM_002496.3(NDUFS8):c.*40A>G	-1	NDUFS8;TCIRG1	Conflicting interpretations of pathogenicity	61329983	RCV000346629; RCV000399461; RCV000370635;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; Human Phenotype Ontology:HP:0011002,MedGen:C0029454, Orphanet:ORPHA2781	11	67804100	67804100	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.-111T>C	4723	NDUFV1	Uncertain significance	563140258	RCV000363161; RCV000270772;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67374365	67374365	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.-66G>A	4723	NDUFV1	Likely benign	73490568	RCV000332823; RCV000389913;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67374410	67374410	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.-45T>G	4723	NDUFV1	Conflicting interpretations of pathogenicity	373940385	RCV000331800; RCV000274501; RCV000196176;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	11	67374431	67374431	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.-34T>A	4723	NDUFV1	Uncertain significance	886048586	RCV000281628; RCV000374785;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67374442	67374442	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.72+15G>T	4723	NDUFV1	Conflicting interpretations of pathogenicity	187400726	RCV000372683; RCV000315626; RCV000127169;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	11	67374562	67374562	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.150C>T (p.Asp50=)	4723	NDUFV1	Conflicting interpretations of pathogenicity	11540012	RCV000285221; RCV000342561; RCV000676963; RCV000199787;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	11	67375944	67375944	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.205C>T (p.Leu69=)	4723	NDUFV1	Conflicting interpretations of pathogenicity	199543483	RCV000284822; RCV000393780; RCV000424374;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	11	67376072	67376072	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.218C>T (p.Pro73Leu)	4723	NDUFV1	Uncertain significance	886048587	RCV000346779; RCV000393779;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67376085	67376085	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.326+12G>A	4723	NDUFV1	Uncertain significance	184136353	RCV000363981; RCV000307097;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67376205	67376205	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.333G>T (p.Lys111Asn)	4723	NDUFV1	Uncertain significance	886048588	RCV000390796; RCV000315055;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67376929	67376929	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.366G>A (p.Pro122=)	4723	NDUFV1	Conflicting interpretations of pathogenicity	140445386	RCV000367341; RCV000275192; RCV000444047;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	11	67376962	67376962	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.414G>T (p.Leu138=)	4723	NDUFV1	Uncertain significance	148461900	RCV000318618; RCV000353349;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67377010	67377010	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.530A>G (p.Tyr177Cys)	4723	NDUFV1	Uncertain significance	551603121	RCV000322932; RCV000260749;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67377871	67377871	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.549C>G (p.Gly183=)	4723	NDUFV1	Benign/Likely benign	10896187	RCV000379810; RCV000283254; RCV000676965; RCV000127166;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	11	67377890	67377890	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.563G>A (p.Gly188Asp)	4723	NDUFV1	Uncertain significance	142982022	RCV000383441; RCV000321979; RCV000523777;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202	11	67377904	67377904	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.606G>A (p.Gly202=)	4723	NDUFV1	Uncertain significance	886048589	RCV000343621; RCV000291492;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67377947	67377947	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.800G>A (p.Arg267Lys)	4723	NDUFV1	Uncertain significance	141400889	RCV000294572; RCV000390228; RCV000195680;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202	11	67378565	67378565	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.819C>T (p.Thr273=)	4723	NDUFV1	Uncertain significance	150859374	RCV000392952; RCV000351838;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67378584	67378584	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.843T>C (p.His281=)	4723	NDUFV1	Uncertain significance	766555879	RCV000312468; RCV000355545;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67378608	67378608	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.904A>G (p.Lys302Glu)	4723	NDUFV1	Uncertain significance	573896386	RCV000297655; RCV000392931;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67378669	67378669	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.1017C>T (p.Phe339=)	4723	NDUFV1	Uncertain significance	371426372	RCV000267146; RCV000354895;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67378977	67378977	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.1056T>C (p.Ala352=)	4723	NDUFV1	Benign/Likely benign	11227859	RCV000305888; RCV000358134; RCV000676966; RCV000127167;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN169374	11	67379016	67379016	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.1075C>T (p.Arg359Cys)	4723	NDUFV1	Uncertain significance	142499054	RCV000265767; RCV000327949; RCV000761787;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202	11	67379035	67379035	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.1079C>T (p.Ser360Leu)	4723	NDUFV1	Uncertain significance	372208500	RCV000384838; RCV000269669;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67379039	67379039	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.1102G>A (p.Ala368Thr)	4723	NDUFV1	Uncertain significance	376958800	RCV000327027; RCV000388550; RCV000195640;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202	11	67379389	67379389	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.1188G>A (p.Met396Ile)	4723	NDUFV1	Uncertain significance	142050639	RCV000349342; RCV000296595; RCV000416264;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202	11	67379616	67379616	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.1309-9C>T	4723	NDUFV1	Uncertain significance	374581520	RCV000387593; RCV000281538;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67379834	67379834	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.1353G>T (p.Gln451His)	4723	NDUFV1	Uncertain significance	768582587	RCV000391889; RCV000338882;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67379887	67379887	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.1378C>T (p.Arg460Trp)	4723	NDUFV1	Uncertain significance	372047256	RCV000303945; RCV000342474;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67379912	67379912	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.*14C>T	4723	NDUFV1	Uncertain significance	886048590	RCV000304897; RCV000391895;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67379943	67379943	-	C0023264 256000 Leigh syndrome;
NM_007103.3(NDUFV1):c.*79C>T	4723	NDUFV1	Uncertain significance	76839099	RCV000269563; RCV000364194;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	67380008	67380008	-	C0023264 256000 Leigh syndrome;
NM_004589.3(SCO1):c.*722C>G	6341	SCO1	Benign	7512	RCV000304976; RCV000398310;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10583714	10583714	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.*601delA	6341	SCO1	Uncertain significance	886052591	RCV000361948; RCV000299179;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10583835	10583835	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.*594A>G	6341	SCO1	Uncertain significance	183020275	RCV000356075; RCV000263841;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10583842	10583842	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.*403A>G	6341	SCO1	Uncertain significance	886052592	RCV000368958; RCV000333830;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10584033	10584033	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.*349C>G	6341	SCO1	Uncertain significance	151279533	RCV000328062; RCV000381292;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10584087	10584087	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.*320A=	6341	SCO1	Benign	2040570	RCV000384875; RCV000283552;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10584116	10584116	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.*310C>T	6341	SCO1	Likely benign	2662957	RCV000401460; RCV000286496;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10584126	10584126	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.*285C>T	6341	SCO1	Uncertain significance	886052593	RCV000299262; RCV000390098;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10584151	10584151	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.*272T>C	6341	SCO1	Likely benign	2662956	RCV000369598; RCV000407294;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10584164	10584164	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.*127A>G	6341	SCO1	Uncertain significance	779082082	RCV000277363; RCV000306745;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10584309	10584309	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.*61A>C	6341	SCO1	Uncertain significance	886052594	RCV000271575; RCV000376525;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10584375	10584375	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.868A>G (p.Ile290Val)	6341	SCO1	Uncertain significance	139771078	RCV000265637; RCV000324448;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10584474	10584474	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.2(SCO1):c.787A>G (p.Ile263Val)	6341	SCO1	Uncertain significance	111708860	RCV000375649; RCV000279936; RCV000195639;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202	17	10584555	10584555	-
NM_004589.3(SCO1):c.689C>T (p.Thr230Met)	6341	SCO1	Uncertain significance	141066877	RCV000350242; RCV000400601;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10590126	10590126	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.673G>A (p.Val225Ile)	6341	SCO1	Uncertain significance	886052595	RCV000314682; RCV000407936;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10590142	10590142	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.640G>A (p.Ala214Thr)	6341	SCO1	Uncertain significance	145764824	RCV000365664; RCV000308760;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10595204	10595204	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.594A>G (p.Pro198=)	6341	SCO1	Benign/Likely benign	2271228	RCV000302841; RCV000268504; RCV000128009; RCV000200257;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	17	10595250	10595250	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.304T>G (p.Phe102Val)	6341	SCO1	Uncertain significance	539094737	RCV000262471; RCV000373676;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10599118	10599118	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.297A>G (p.Ala99=)	6341	SCO1	Benign/Likely benign	11538237	RCV000294348; RCV000320203; RCV000128007;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374	17	10599125	10599125	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.273G>A (p.Gly91=)	6341	SCO1	Uncertain significance	886052596	RCV000288042; RCV000389464;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10600552	10600552	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.259C>T (p.Pro87Ser)	6341	SCO1	Uncertain significance	757958481	RCV000291740; RCV000345452;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10600566	10600566	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.224C>T (p.Pro75Leu)	6341	SCO1	Uncertain significance	370147170	RCV000304787; RCV000399883;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10600601	10600601	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.172C>T (p.Pro58Ser)	6341	SCO1	Benign/Likely benign	1802083	RCV000392206; RCV000353165; RCV000757744; RCV000128010;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	17	10600653	10600653	UniProtKB (protein):O75880#VAR_014537	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.16C>G (p.Leu6Val)	6341	SCO1	Conflicting interpretations of pathogenicity	61753148	RCV000273401; RCV000330754; RCV000224328; RCV000128008;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	17	10600809	10600809	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.15C>T (p.Val5=)	6341	SCO1	Uncertain significance	780334801	RCV000276979; RCV000325345;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10600810	10600810	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.-49C>T	6341	SCO1	Uncertain significance	778522503	RCV000290105; RCV000382331;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10600873	10600873	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.-52delA	6341	SCO1	Uncertain significance	566330071	RCV000376612; RCV000341714;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10600876	10600876	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004589.3(SCO1):c.-71G>T	6341	SCO1	Likely benign	2520169	RCV000359528; RCV000305854;	N	MedGen:C0268237,OMIM:220110, Orphanet:ORPHA254905,SNOMED CT:67434000; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	17	10600895	10600895	-	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;
NM_004168.3(SDHA):c.-115T>C	6389	SDHA	Likely benign	2303741	RCV000338764; RCV000313041; RCV000400671;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	5	218356	218356	-	C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.-84dupC	6389	SDHA	Likely benign	35805262	RCV000307350; RCV000399941; RCV000370159;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	5	218387	218387	-	C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.-63G>A	6389	SDHA	Uncertain significance	886060513	RCV000329506; RCV000272151; RCV000364389;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	5	218408	218408	-	C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.-4A>G	6389	SDHA	Benign/Likely benign	377134185	RCV000572973; RCV000266213; RCV000323529; RCV000358590; RCV000251091;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN169374	5	218467	218467	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.-1C>T	6389	SDHA	Uncertain significance	560932680	RCV000279041; RCV000317717; RCV000380480;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	5	218470	218470	-	C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.17G>A (p.Gly6Asp)	6389	SDHA	Benign/Likely benign	187964306	RCV000573807; RCV000349064; RCV000210499; RCV000374489; RCV000210499; RCV000411625; RCV000282383; RCV000224380; RCV000216190;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; Hu	5	218487	218487	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.91C>T (p.Arg31Ter)	6389	SDHA	Pathogenic	142441643	RCV000170328; RCV000763139; RCV000131808; RCV000763139; RCV000627791; RCV000763139; RCV000148026; RCV000627791; RCV000763139; RCV000722034; RCV000413945;	N	MedGen:C1858592,OMIM:604287, Orphanet:ORPHA139411; MedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011,	5	223624	223624	OMIM Allelic Variant:600857.0008	C1858592 604287 Carney triad;
NM_004168.3(SDHA):c.92G>A (p.Arg31Gln)	6389	SDHA	Uncertain significance	752532780	RCV000764598; RCV000571153; RCV000764598; RCV000225880; RCV000764598; RCV000225880; RCV000410721; RCV000764598;	N	MedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me	5	223625	223625	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.113A>T (p.Asp38Val)	6389	SDHA	Benign/Likely benign	34635677	RCV000567706; RCV000352522; RCV000210535; RCV000387287; RCV000210535; RCV000295347; RCV000757746; RCV000245657;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:00	5	223646	223646	UniProtKB (protein):P31040#VAR_049215	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.133G>A (p.Ala45Thr)	6389	SDHA	Conflicting interpretations of pathogenicity	140736646	RCV000572294; RCV000678682; RCV000308179; RCV000210508; RCV000401643; RCV000210508; RCV000410936; RCV000347454;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C2608055; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C327999	5	223666	223666	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.155C>T (p.Ser52Phe)	6389	SDHA	Uncertain significance	377470390	RCV000764599; RCV000565564; RCV000764599; RCV000239368; RCV000764599; RCV000239368; RCV000764599;	N	MedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me	5	224479	224479	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.163T>C (p.Tyr55His)	6389	SDHA	Benign/Likely benign	142926807	RCV000570704; RCV000360177; RCV000399750; RCV000464569; RCV000464569; RCV000303103; RCV000606498;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:00	5	224487	224487	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.269T>C (p.Val90Ala)	6389	SDHA	Uncertain significance	886060514	RCV000267910; RCV000297336; RCV000354574;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	5	224593	224593	-	C0023264 256000 Leigh syndrome;
NM_004168.4(SDHA):c.309A>G (p.Ala103=)	6389	SDHA	Benign/Likely benign	1139424	RCV000162942; RCV000261547; RCV000385778; RCV000319629; RCV000757747; RCV000118318;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN517202; MedGen:CN169374	5	224633	224633	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.441C>T (p.Pro147=)	6389	SDHA	Conflicting interpretations of pathogenicity	201453889	RCV000564203; RCV000332396; RCV000233726; RCV000389166; RCV000233726; RCV000274933;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:00	5	225662	225662	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.442G>A (p.Ala148Thr)	6389	SDHA	Uncertain significance	375576259	RCV000572868; RCV000287726; RCV000228365; RCV000383376; RCV000228365; RCV000345164;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:00	5	225663	225663	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.445G>A (p.Ala149Thr)	6389	SDHA	Uncertain significance	575617625	RCV000764600; RCV000571754; RCV000764600; RCV000702947; RCV000764600; RCV000702947; RCV000764600;	N	MedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me	5	225666	225666	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.448G>A (p.Val150Met)	6389	SDHA	Uncertain significance	542980860	RCV000764601; RCV000562589; RCV000764601; RCV000695590; RCV000764601; RCV000695590; RCV000764601;	N	MedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me	5	225669	225669	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.549C>T (p.Gly183=)	6389	SDHA	Benign/Likely benign	61733344	RCV000571465; RCV000291747; RCV000239367; RCV000394814; RCV000239367; RCV000339713; RCV000418051;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:00	5	226090	226090	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.550G>A (p.Gly184Arg)	6389	SDHA	Benign/Likely benign	148246073	RCV000575599; RCV000390055; RCV000204241; RCV000343277; RCV000204241; RCV000304507; RCV000514856; RCV000607544;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:00	5	226091	226091	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.613T>C (p.Tyr205His)	6389	SDHA	Uncertain significance	61754481	RCV000764602; RCV000575607; RCV000764602; RCV000471598; RCV000764602; RCV000471598; RCV000764602;	N	MedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me	5	226154	226154	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.619A>C (p.Arg207=)	6389	SDHA	Benign/Likely benign	6555055	RCV000162480; RCV000298743; RCV000263653; RCV000355926; RCV000757748; RCV000118319;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN517202; MedGen:CN169374	5	226160	226160	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.684T>C (p.Asn228=)	6389	SDHA	Benign/Likely benign	2115272	RCV000162481; RCV000368927; RCV000311792; RCV000276689; RCV000757749; RCV000118320;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN517202; MedGen:CN169374	5	228362	228362	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.685G>A (p.Gly229Arg)	6389	SDHA	not provided	41495051	RCV000509324; RCV000509324;	N	MedGen:C3150898,OMIM:613642; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	5	228363	228363	-	C3150898 613642 Dilated cardiomyopathy 1GG;
NM_004168.3(SDHA):c.694C>T (p.Arg232Cys)	6389	SDHA	Uncertain significance	878854635	RCV000764603; RCV000764603; RCV000231015; RCV000764603; RCV000231015; RCV000764603;	N	MedGen:C3150898,OMIM:613642; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165	5	228372	228372	-	C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.704T>C (p.Ile235Thr)	6389	SDHA	Uncertain significance	144513891	RCV000765825; RCV000562815; RCV000765825; RCV000203953; RCV000765825; RCV000203953; RCV000410184; RCV000765825;	N	MedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me	5	228382	228382	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.723C>T (p.Asp241=)	6389	SDHA	Conflicting interpretations of pathogenicity	146653693	RCV000562470; RCV000381733; RCV000334152; RCV000457962; RCV000457962; RCV000275715; RCV000423425;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:00	5	228401	228401	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.739A>G (p.Ile247Val)	6389	SDHA	Uncertain significance	571292356	RCV000765826; RCV000214276; RCV000765826; RCV000230633; RCV000765826; RCV000230633; RCV000663181; RCV000765826;	N	MedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me	5	228417	228417	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.771-11A>G	6389	SDHA	Benign/Likely benign	2288461	RCV000492269; RCV000281527; RCV000375985; RCV000330761; RCV000245369;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN169374	5	230980	230980	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.812C>G (p.Thr271Ser)	6389	SDHA	Uncertain significance	765611464	RCV000765827; RCV000765827; RCV000463083; RCV000765827; RCV000463083; RCV000765827;	N	MedGen:C3150898,OMIM:613642; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165	5	231032	231032	-	C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.822C>T (p.Gly274=)	6389	SDHA	Benign/Likely benign	34771391	RCV000570502; RCV000287211; RCV000210510; RCV000317795; RCV000210510; RCV000372488; RCV000426962;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:00	5	231042	231042	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.830C>T (p.Thr277Met)	6389	SDHA	Uncertain significance	367721665	RCV000570331; RCV000283732; RCV000228322; RCV000396726; RCV000228322; RCV000411374; RCV000342145; RCV000208222;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; Hu	5	231050	231050	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.891T>C (p.Pro297=)	6389	SDHA	Benign/Likely benign	1126417	RCV000162482; RCV000400279; RCV000347829; RCV000308030; RCV000757750; RCV000118321;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN517202; MedGen:CN169374	5	231111	231111	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.902A>G (p.Tyr301Cys)	6389	SDHA	Uncertain significance	-1	RCV000765828; RCV000765828; RCV000701878; RCV000765828; RCV000701878; RCV000765828;	N	MedGen:C3150898,OMIM:613642; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165	5	233598	233598	-	C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.955A>C (p.Ile319Leu)	6389	SDHA	Uncertain significance	377509915	RCV000765829; RCV000565889; RCV000765829; RCV000462816; RCV000765829; RCV000462816; RCV000765829;	N	MedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me	5	233651	233651	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.969C>T (p.Gly323=)	6389	SDHA	Benign/Likely benign	142849100	RCV000129664; RCV000362684; RCV000203785; RCV000314076; RCV000203785; RCV000399972; RCV000246464;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:00	5	233665	233665	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.991G>A (p.Ala331Thr)	6389	SDHA	Uncertain significance	200526913	RCV000765830; RCV000567963; RCV000765830; RCV000239369; RCV000765830; RCV000239369; RCV000765830;	N	MedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me	5	233687	233687	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.994C>T (p.Pro332Ser)	6389	SDHA	Uncertain significance	373509391	RCV000765831; RCV000564552; RCV000765831; RCV000549735; RCV000765831; RCV000549735; RCV000765831;	N	MedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me	5	233690	233690	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1038C>G (p.Ser346=)	6389	SDHA	Benign/Likely benign	1041949	RCV000162943; RCV000368680; RCV000274141; RCV000319420; RCV000756624; RCV000118311;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN517202; MedGen:CN169374	5	233734	233734	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1055G>A (p.Arg352Gln)	6389	SDHA	Uncertain significance	199844384	RCV000765832; RCV000563279; RCV000765832; RCV000463749; RCV000765832; RCV000411606; RCV000463749; RCV000765832; RCV000498298;	N	MedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me	5	233751	233751	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1092C>T (p.Val364=)	6389	SDHA	Uncertain significance	886060515	RCV000316002; RCV000260734; RCV000355512;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	5	235286	235286	-	C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.1150T>G (p.Ser384Ala)	6389	SDHA	Uncertain significance	776888362	RCV000765833; RCV000765833; RCV000528318; RCV000765833; RCV000528318; RCV000765833;	N	MedGen:C3150898,OMIM:613642; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165	5	235344	235344	-	C1855008 252011 Mitochondrial complex II deficiency;
NM_004168.3(SDHA):c.1170C>T (p.Phe390=)	6389	SDHA	Benign/Likely benign	35277230	RCV000163257; RCV000379943; RCV000321449; RCV000470511; RCV000470511; RCV000285173; RCV000118312;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:00	5	235364	235364	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1305G>T (p.Leu435=)	6389	SDHA	Benign/Likely benign	35964044	RCV000565630; RCV000291485; RCV000210529; RCV000346462; RCV000210529; RCV000376037; RCV000242588;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:00	5	236587	236587	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1462G>A (p.Ala488Thr)	6389	SDHA	Uncertain significance	369100772	RCV000562914; RCV000714730; RCV000468600; RCV000714731; RCV000468600;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165	5	240502	240502	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1580G>A (p.Arg527His)	6389	SDHA	Uncertain significance	766352407	RCV000396802; RCV000287976; RCV000461471; RCV000461471; RCV000352061;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	5	251135	251135	-	C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.1664-8G>A	6389	SDHA	Benign/Likely benign	199790689	RCV000312438; RCV000205034; RCV000396767; RCV000205034; RCV000367152; RCV000118313;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; Me	5	251445	251445	-	C0023264 256000 Leigh syndrome;
NM_004168.4(SDHA):c.1680G>A (p.Thr560=)	6389	SDHA	Benign/Likely benign	1139449	RCV000162436; RCV000298674; RCV000398522; RCV000353507; RCV000756625; RCV000118314;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN517202; MedGen:CN169374	5	251469	251469	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1752A>G (p.Ala584=)	6389	SDHA	Benign/Likely benign	13070	RCV000162485; RCV000268103; RCV000323384; RCV000359489; RCV000756626; RCV000118315;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN517202; MedGen:CN169374	5	251541	251541	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1753C>T (p.Arg585Trp)	6389	SDHA	Conflicting interpretations of pathogenicity	200397144	RCV000765834; RCV000163558; RCV000765834; RCV000464783; RCV000765834; RCV000148027; RCV000464783; RCV000765834; RCV000762143;	N	MedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me	5	251542	251542	OMIM Allelic Variant:600857.0009	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1776T>C (p.His592=)	6389	SDHA	Benign/Likely benign	1126538	RCV000130494; RCV000383884; RCV000205292; RCV000329216; RCV000205292; RCV000264789; RCV000243217;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:00	5	251565	251565	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1794+105dup	6389	SDHA	Uncertain significance	-1	RCV000714539;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	5	251688	251688	-
NM_004168.3(SDHA):c.1886A>T (p.Tyr629Phe)	6389	SDHA	Benign/Likely benign	6960	RCV000492773; RCV000389777; RCV000210491; RCV000270762; RCV000210491; RCV000325852; RCV000243534;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:00	5	254599	254599	UniProtKB (protein):P31040#VAR_071037	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1908+15C>T	6389	SDHA	Benign/Likely benign	34504623	RCV000385355; RCV000294605; RCV000349503; RCV000249299;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN169374	5	254636	254636	-	C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.1909-12_1909-11delCT	6389	SDHA	Conflicting interpretations of pathogenicity	372662724	RCV000492532; RCV000337728; RCV000281629; RCV000394391; RCV000483037;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN169374	5	256437	256438	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1911C>T (p.Val637=)	6389	SDHA	Benign/Likely benign	11557098	RCV000564874; RCV000343504; RCV000210496; RCV000402055; RCV000210496; RCV000298002; RCV000426571;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:00	5	256451	256451	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1919A>G (p.Glu640Gly)	6389	SDHA	Uncertain significance	372480044	RCV000765835; RCV000574591; RCV000765835; RCV000239361; RCV000765835; RCV000239361; RCV000663177; RCV000765835;	N	MedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Me	5	256459	256459	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1932G>A (p.Val644=)	6389	SDHA	Benign/Likely benign	6961	RCV000162483; RCV000273207; RCV000358445; RCV000303618; RCV000756627; RCV000118316;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN517202; MedGen:CN169374	5	256472	256472	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile)	6389	SDHA	Benign/Likely benign	6962	RCV000162484; RCV000309260; RCV000269248; RCV000363917; RCV000756628; RCV000118317;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN517202; MedGen:CN169374	5	256509	256509	UniProtKB (protein):P31040#VAR_049217	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.1973C>T (p.Pro658Leu)	6389	SDHA	Uncertain significance	377632619	RCV000765836; RCV000217918; RCV000388419; RCV000765836; RCV000275247; RCV000649461; RCV000765836; RCV000649461; RCV000765836; RCV000333745;	N	MedGen:C3150898,OMIM:613642; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855	5	256513	256513	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.*75A>G	6389	SDHA	Uncertain significance	886060517	RCV000375689; RCV000330444; RCV000279520;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	5	256610	256610	-	C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.*133G>C	6389	SDHA	Uncertain significance	193112615	RCV000285270; RCV000379866; RCV000334630;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	5	256668	256668	-	C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.*189C>T	6389	SDHA	Uncertain significance	185107377	RCV000340216; RCV000309761; RCV000396725;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300	5	256724	256724	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.893C>G (p.Pro298Arg)	6834	SURF1	Uncertain significance	201822068	RCV000631407;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136218778	136218778	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.883C>T (p.Arg295Cys)	6834	SURF1	Benign/Likely benign	147312193	RCV000527909; RCV000586110; RCV000439404;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	9	136218788	136218788	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.879C>T (p.Phe293=)	6834	SURF1	Likely benign	145088629	RCV000549524;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136218792	136218792	-	C0023264 256000 Leigh syndrome;
NM_003172.4(SURF1):c.833+1G>A	6834	SURF1	Pathogenic	-1	RCV000735985;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136218915	136218915	-
NM_003172.3(SURF1):c.809_826dup (p.Ile275_Val276insGluHisLeuGlnTyrIle)	6834	SURF1	Uncertain significance	-1	RCV000689337;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136218923	136218940	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.814_815insGAGCATC (p.Leu272Argfs)	6834	SURF1	Uncertain significance	1554768224	RCV000662036; RCV000662037;	N	MedGen:C4225246,OMIM:616684, Orphanet:ORPHA391351; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136218934	136218935	-	C4225246 616684 Charcot-Marie-Tooth disease, type 4k;
NM_003172.3(SURF1):c.808G>A (p.Glu270Lys)	6834	SURF1	Uncertain significance	781924765	RCV000631404;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136218941	136218941	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.792_793delAG (p.Arg264Serfs)	6834	SURF1	Pathogenic	782490558	RCV000534608; RCV000198901;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202	9	136218956	136218957	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.772C>T (p.Pro258Ser)	6834	SURF1	Pathogenic	1053850536	RCV000754102;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136218977	136218977	-
NM_003172.3(SURF1):c.758_759delCA (p.Thr253Serfs)	6834	SURF1	Pathogenic/Likely pathogenic	782349178	RCV000586290; RCV000413343;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202	9	136218990	136218991	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.759dup (p.Val254Serfs)	6834	SURF1	Likely pathogenic	1554768246	RCV000560693;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136218990	136218990	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.754_755delAG (p.Ser252Hisfs)	6834	SURF1	Likely pathogenic	782007828	RCV000312508;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136218994	136218995	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.752-1G>C	6834	SURF1	Pathogenic	1391748504	RCV000578241;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136218998	136218998	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.752-4dup	6834	SURF1	Uncertain significance	1159512660	RCV000631406;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136219001	136219001	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.751+6T>C	6834	SURF1	Benign	41296099	RCV000545893; RCV000427963; RCV000128343;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	9	136219295	136219295	-	C0023264 256000 Leigh syndrome;
NM_003172.2(SURF1):c.751C>T (p.Gln251Ter)	6834	SURF1	Pathogenic	121918657	RCV000589222; RCV000013599; RCV000599426;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1850599; MedGen:CN517202	9	136219301	136219301	OMIM Allelic Variant:185620.0006
NM_003172.3(SURF1):c.745A>G (p.Asn249Asp)	6834	SURF1	Conflicting interpretations of pathogenicity	587669420	RCV000699472; RCV000197757;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374	9	136219307	136219307	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.736A>G (p.Ile246Val)	6834	SURF1	Uncertain significance	782480169	RCV000631408;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136219316	136219316	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.688C>T (p.Arg230Ter)	6834	SURF1	Pathogenic	782623477	RCV000631405; RCV000321649;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202	9	136219364	136219364	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.687T>C (p.Tyr229=)	6834	SURF1	Likely benign	373154583	RCV000631413;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136219365	136219365	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.643C>G (p.Pro215Ala)	6834	SURF1	Uncertain significance	147165855	RCV000367139;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136219409	136219409	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.631_632delGA (p.Glu211Asnfs)	6834	SURF1	Likely pathogenic	1554768333	RCV000587221;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136219420	136219421	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.604G>C (p.Asp202His)	6834	SURF1	Benign/Likely benign	72619327	RCV000394086; RCV000128342;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374	9	136219448	136219448	UniProtKB (protein):Q15526#VAR_007451	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.603G>A (p.Val201=)	6834	SURF1	Likely benign	782635006	RCV000631412;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136219449	136219449	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.588+1G>A	6834	SURF1	not provided	1219762677	RCV000662348; RCV000662348;	N	MedGen:C4225246,OMIM:616684, Orphanet:ORPHA391351; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136219548	136219548	-	C4225246 616684 Charcot-Marie-Tooth disease, type 4k;
NM_003172.3(SURF1):c.586C>T (p.Gln196Ter)	6834	SURF1	Pathogenic/Likely pathogenic	147816470	RCV000235079; RCV000578885;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202	9	136219551	136219551	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.574C>T (p.Arg192Trp)	6834	SURF1	Pathogenic	782190413	RCV000202523; RCV000631410; RCV000199387;	N	MedGen:C4225246,OMIM:616684, Orphanet:ORPHA391351; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202	9	136219563	136219563	OMIM Allelic Variant:185620.0017,UniProtKB (protein):Q15526#VAR_076315	C4225246 616684 Charcot-Marie-Tooth disease, type 4k;
NM_003172.3(SURF1):c.573C>G (p.Thr191=)	6834	SURF1	Benign/Likely benign	28715079	RCV000298807; RCV000676733; RCV000128341;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	9	136219564	136219564	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.543C>T (p.Phe181=)	6834	SURF1	Benign/Likely benign	62637580	RCV000353708; RCV000590784; RCV000196556;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	9	136219594	136219594	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.532A>T (p.Asn178Tyr)	6834	SURF1	Pathogenic	587753385	RCV000754103;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136219605	136219605	-
NM_003172.3(SURF1):c.465_466delAA (p.Thr156Serfs)	6834	SURF1	Pathogenic	-1	RCV000754104;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136220653	136220654	-
NM_003172.3(SURF1):c.366C>T (p.Val122=)	6834	SURF1	Uncertain significance	886063630	RCV000268062;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136220753	136220753	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.352A>T (p.Arg118Trp)	6834	SURF1	Uncertain significance	201492662	RCV000323407;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136220767	136220767	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.350A>C (p.Tyr117Ser)	6834	SURF1	Uncertain significance	145615218	RCV000631403; RCV000224641;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202	9	136220769	136220769	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.324-10_324-9insAGA	6834	SURF1	Uncertain significance	1299986010	RCV000631411;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136220804	136220805	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.312_321delTCTGCCAGCCinsAT (p.Leu105Terfs)	6834	SURF1	Pathogenic	863224228	RCV000763191; RCV000235063; RCV000763191; RCV000197023;	N	MedGen:C4225246,OMIM:616684, Orphanet:ORPHA391351; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202	9	136221516	136221525	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.303G>A (p.Glu101=)	6834	SURF1	Likely benign	1554768670	RCV000554402;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136221534	136221534	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.280T>C (p.Leu94=)	6834	SURF1	Benign/Likely benign	28615629	RCV000359434; RCV000676734; RCV000128340;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	9	136221557	136221557	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.211G>C (p.Val71Leu)	6834	SURF1	Conflicting interpretations of pathogenicity	147993882	RCV000264670; RCV000507001;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374	9	136221708	136221708	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.185T>G (p.Leu62Arg)	6834	SURF1	Uncertain significance	-1	RCV000704099;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136221734	136221734	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.167C>G (p.Ala56Gly)	6834	SURF1	Benign	116779216	RCV000524669; RCV000424363; RCV000128339;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	9	136221752	136221752	UniProtKB (protein):Q15526#VAR_068648	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.118A>T (p.Arg40Trp)	6834	SURF1	Uncertain significance	781831910	RCV000555174;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136221801	136221801	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.106+1G>C	6834	SURF1	Likely pathogenic	863224926	RCV000196131;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136223123	136223123	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.54+9_54+22delCGGGTGCGGGGTGC	6834	SURF1	Likely benign	782659731	RCV000531800; RCV000483880;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374	9	136223254	136223267	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.54+10G>A	6834	SURF1	Conflicting interpretations of pathogenicity	587598397	RCV000329138; RCV000676736; RCV000128346;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202; MedGen:CN169374	9	136223266	136223266	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.54+9C>G	6834	SURF1	Conflicting interpretations of pathogenicity	587675928	RCV000383935; RCV000128345;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374	9	136223267	136223267	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.32_38dup (p.Leu16Glyfs)	6834	SURF1	Pathogenic	1410388157	RCV000543189;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	9	136223292	136223298	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.-11_13del24	6834	SURF1	Pathogenic	863224229	RCV000258857; RCV000199102;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202	9	136223317	136223340	-	C0023264 256000 Leigh syndrome;
NM_003172.3(SURF1):c.-37C>T	6834	SURF1	Benign	523304	RCV000286961; RCV000128344;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN169374	9	136223366	136223366	-	C0023264 256000 Leigh syndrome;
NM_016589.3(TIMMDC1):c.673C>T (p.Arg225Ter)	51300	TIMMDC1	Uncertain significance	149481081	RCV000735814;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005	3	119236128	119236128	-

MSeqDR Portal

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Description	Disease id
ENSG00000074582	BCS1L	1	0	16	BC1 (ubiquinol-cytochrome c reductase) synthesis-like [Source:HGNC Symbol;Acc:1020]	00015
ENSG00000006695	COX10	1	0	57	cytochrome c oxidase assembly homolog 10 (yeast) [Source:HGNC Symbol;Acc:2260]	00015
ENSG00000014919	COX15	1	0	2	cytochrome c oxidase assembly homolog 15 (yeast) [Source:HGNC Symbol;Acc:2263]	00015
ENSG00000110074	FOXRED1	1	0	4	FAD-dependent oxidoreductase domain containing 1 [Source:HGNC Symbol;Acc:26927]	00015
ENSG00000198899	MT-ATP6	1	7	8	mitochondrially encoded ATP synthase 6 [Source:HGNC Symbol;Acc:7414]	00015
ENSG00000210156	MT-TK	1	3	2	mitochondrially encoded tRNA lysine [Source:HGNC Symbol;Acc:7489]	00015
ENSG00000210077	MT-TV	1	3	2	mitochondrially encoded tRNA valine [Source:HGNC Symbol;Acc:7500]	00015
ENSG00000210117	MT-TW	1	4	3	mitochondrially encoded tRNA tryptophan [Source:HGNC Symbol;Acc:7501]	00015
ENSG00000130414	NDUFA10	1	0	64	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa [Source:HGNC Symbol;Acc:7684]	00015
ENSG00000184752	NDUFA12	1	0	0	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 [Source:HGNC Symbol;Acc:23987]	00015
ENSG00000131495	NDUFA2	1	0	0	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa [Source:HGNC Symbol;Acc:7685]	00015
ENSG00000139180	NDUFA9	1	0	0	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa [Source:HGNC Symbol;Acc:7693]	00015
ENSG00000164182	NDUFAF2	1	0	12	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 [Source:HGNC Symbol;Acc:28086]	00015
ENSG00000156170	NDUFAF6	1	0	1	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 [Source:HGNC Symbol;Acc:28625]	00015
ENSG00000213619	NDUFS3	1	0	13	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7710]	00015
ENSG00000164258	NDUFS4	1	0	17	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7711]	00015
ENSG00000115286	NDUFS7	1	0	11	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7714]	00015
ENSG00000110717	NDUFS8	1	0	21	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7715]	00015
ENSG00000073578	SDHA	1	1	63	succinate dehydrogenase complex, subunit A, flavoprotein (Fp) [Source:HGNC Symbol;Acc:10680]	00015
ENSG00000260692	SURF1	1	0	49	surfeit 1 [Source:HGNC Symbol;Acc:11474]	00015

*Click on gene and variants to check details. Or view all variants in new page

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