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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Mitochondrial Diseases (D028361)
..Starting node ..Mitochondrial complex I deficiency (C537475)
Child Nodes:
Sister Nodes:
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
..Ataxia and Polyneuropathy, Adult-Onset (C564020)
..Ataxia Neuropathy Spectrum (C579922)
..Bjornstad syndrome (C537633)
..Carbamoyl-Phosphate Synthase I Deficiency Disease (D020165)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)
..Childhood Myocerebrohepatopathy Spectrum (C579990)
..Coenzyme Q10 Deficiency (C564403)
..Combined Oxidative Phosphorylation Deficiency 4 (C565690)
..Combined Oxidative Phosphorylation Deficiency 5 (C567126)
..Cowden-Like Syndrome (C567337)
..Cytochrome-c Oxidase Deficiency (D030401) 2
..Deoxyguanosine Kinase Deficiency (C580039)
..Finnish lethal neonatal metabolic syndrome (C537934)
..Friedreich Ataxia (D005621) 6
..Hypermetabolism due to Defect in Mitochondria (C565498)
..Hypomyelination, Global Cerebral (C567847)
..Hypotonia-Cystinuria Syndrome (C564710)
..Kearns-Sayre Syndrome (D007625) 1
..Leigh Disease (D007888) 12
..Leukodystrophy, Hypomyelinating, 4 (C567390)
..Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)
..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..Mitochondrial complex I deficiency (C537475)
..Mitochondrial Complex II Deficiency (C565375)
..Mitochondrial Complex III Deficiency (C565128)
..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33
..Mitochondrial Phosphate Carrier Deficiency (C563665)
..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1
..Multiple Mitochondrial Dysfunctions Syndrome (C565304)
..MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
..Myopathy with Giant Abnormal Mitochondria (C564971)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Navajo neurohepatopathy (C538344) 1
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Autosomal Dominant (D029241)
..Optic Atrophy, Hereditary, Leber (D029242) 1
..Parkinson Disease, Mitochondrial (C564015)
..Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)
..Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
..Pyruvate Carboxylase Deficiency Disease (D015324) 1
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
..Sarcosinemia (C537236)
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Succinate-Coa Ligase Deficiency (C580473)
..VDAC Deficiency (C565767)
..VLCAD deficiency (C536353)
..Wolfram Syndrome 2 (C565733)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7306

Name:

Mitochondrial complex I deficiency

Definition:

Alternative IDs:

OMIM:252010

ParentIDs:

MESH:D028361

TreeNumbers:

C18.452.660/C537475

Synonyms:

Mitochondrial NADH dehydrogenase component of complex I, deficiency of |Nadh-Coenzyme Q Reductase Deficiency |NADH coenzyme q reductase deficiency |NADH:Q(1) Oxidoreductase deficiency

Slim Mappings:

Metabolic disease

Reference:

MedGen: C537475
MeSH: C537475
OMIM: 252010;

Genes: FOXRED1; NDUFA1; NDUFA11; NDUFAF1; NDUFAF2; NDUFAF3; NDUFAF4; NDUFAF5; NDUFB3; NDUFB9; NDUFS1; NDUFS2; NDUFS3; NDUFS4; NDUFS6; NDUFV1; NDUFV2; NUBPL;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001423	X-linked dominant inheritance
3	HP:0008316	Abnormal mitochondria in muscle tissue
4	HP:0006965	Acute necrotizing encephalopathy
5	HP:0001251	Ataxia
6	HP:0003487	Babinski sign
7	HP:0000618	Blindness
8	HP:0001272	Cerebellar atrophy
9	HP:0002181	Cerebral edema
10	HP:0001259	Coma
11	HP:0002376	Developmental regression
12	HP:0003546	Exercise intolerance
13	HP:0001508	Failure to thrive
14	HP:0008872	Feeding difficulties in infancy
15	HP:0001290	Generalized hypotonia
16	HP:0001263	Global developmental delay
17	HP:0001510	Growth delay
18	HP:0001399	Hepatic failure
19	HP:0001347	Hyperreflexia
20	HP:0001639	Hypertrophic cardiomyopathy
21	HP:0001943	Hypoglycemia
22	HP:0001265	Hyporeflexia
23	HP:0001252	Hypotonia
24	HP:0002490	Increased CSF lactate
25	HP:0003128	Lactic acidosis
26	HP:0001254	Lethargy
27	HP:0002415	Leukodystrophy
28	HP:0001427	Mitochondrial inheritance
29	HP:0001324	Muscle weakness
30	HP:0000639	Nystagmus
31	HP:0000543	Optic disc pallor
32	HP:0003812	Phenotypic variability
33	HP:0004481	Progressive macrocephaly
34	HP:0000508	Ptosis
35	HP:0002878	Respiratory failure
36	HP:0002093	Respiratory insufficiency
37	HP:0001250	Seizure
38	HP:0000407	Sensorineural hearing impairment
39	HP:0003202	Skeletal muscle atrophy
40	HP:0001257	Spasticity
41	HP:0000486	Strabismus
42	HP:0002013	Vomiting

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_005343.3(HRAS):c.37G>C (p.Gly13Arg)	-1	-	Pathogenic	104894228	RCV000032852; RCV000029212; RCV000029213; RCV000173005; RCV000173006;	N	; MedGen:C0265318,OMIM:163200,SNOMED CT:239112008; MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003; MedGen:C0853032	11	534286	534286	NM_005343.3:c.37G>C	NP_005334.1:p.Gly13Arg		OMIM Allelic Variant:190020.0017	C0334082 162900 Epidermal nevus; C0265318 163200 Epidermal nevus syndrome; C1838979 252010 Mitochondrial complex I deficiency; C0853032 Nevus sebaceous
NM_005343.3(HRAS):c.35G>T (p.Gly12Val)	-1	-	Pathogenic	104894230	RCV000013432; RCV000013433; RCV000032850; RCV000013431; RCV000157912;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003; MedGen:C0587248,OMIM:218040,ORPHA:3071,SNOMED CT:309776008; MedGen:C1968782; MedGen:CN221809	11	534288	534288	NM_005343.3:c.35G>T	NP_005334.1:p.Gly12Val		OMIM Allelic Variant:190020.0001	C0587248 218040 Costello syndrome; C0334082 162900 Epidermal nevus; C0005684 109800 Malignant tumor of urinary bladder; C1838979 252010 Mitochondrial complex I deficiency; C1968782 Myopathy, congenital, with excess of muscle spindles; CN221809 not prov
NM_005343.3(HRAS):c.34G>T (p.Gly12Cys)	-1	-	Pathogenic	104894229	RCV000013447; RCV000032851; RCV000029211; RCV000149829; RCV000212495;	N	MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003; MedGen:C0587248,OMIM:218040,ORPHA:3071,SNOMED CT:309776008; MedGen:C0853032; MedGen:CN166718; MedGen:CN221809	11	534289	534289	NM_005343.3:c.34G>T	NP_005334.1:p.Gly12Cys		OMIM Allelic Variant:190020.0014	C0587248 218040 Costello syndrome; C0334082 162900 Epidermal nevus; C1838979 252010 Mitochondrial complex I deficiency; C0853032 Nevus sebaceous; CN221809 not provided; CN166718 Rasopathy
NC_000014.9:g.(31394019_31414809)_(31654321_31655889)del	-1	-	Pathogenic	-1	RCV000000018;	N	MedGen:C1838979,OMIM:252010	14	31863225	32125095	-	-		OMIM Allelic Variant:613621.0002,dbVar:nssv7487142,dbVar:nsv1197549	C1838979 252010 Mitochondrial complex I deficiency
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys)	2261	FGFR3	Pathogenic	121913482	RCV000017734; RCV000017731; RCV000017733; RCV000017735; RCV000017732;	N	MedGen:C0022603,OMIM:182000; MedGen:C0026764,OMIM:254500,ORPHA:29073,SNOMED CT:109989006,SNOMED CT:55921005; MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003; MedGen:C1851152; MedGen:C1868678,OMIM:187600	4	1803564	1803564	NM_000142.4:c.742C>T	NP_000133.1:p.Arg248Cys	NC_000004.11:g.1803564C>T	OMIM Allelic Variant:134934.0005	C0334082 162900 Epidermal nevus; C0022603 182000 Keratosis, seborrheic; C1838979 252010 Mitochondrial complex I deficiency; C0026764 254500 Multiple myeloma; C1851152 Skeletal dysplasia with acanthosis nigricans; C1868678 187600 Thanatophoric dysplasia
NM_000142.4(FGFR3):c.1108G>T (p.Gly370Cys)	2261	FGFR3	Pathogenic	121913479	RCV000029208; RCV000017770;	N	MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003; MedGen:C1868678,OMIM:187600	4	1806089	1806089	NM_000142.4:c.1108G>T	NP_000133.1:p.Gly370Cys	NC_000004.11:g.1806089G>T	OMIM Allelic Variant:134934.0033	C0334082 162900 Epidermal nevus; C1838979 252010 Mitochondrial complex I deficiency; C1868678 187600 Thanatophoric dysplasia type 1
NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg)	2261	FGFR3	Pathogenic	28931614	RCV000017724; RCV000029207; RCV000017763;	Y	MedGen:C0001080,OMIM:100800,ORPHA:15,SNOMED CT:86268005; MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003	4	1806119	1806119	NM_000142.4:c.1138G>A	NP_000133.1:p.Gly380Arg	NC_000004.11:g.1806119G>A,NC_000004.11:g.1806119G>C	OMIM Allelic Variant:134934.0001,OMIM Allelic Variant:134934.0027	C0001080 100800 Achondroplasia; C0334082 162900 Epidermal nevus; C1838979 252010 Mitochondrial complex I deficiency
NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg)	2261	FGFR3	Pathogenic	28931614	RCV000017724; RCV000029207; RCV000017763;	Y	MedGen:C0001080,OMIM:100800,ORPHA:15,SNOMED CT:86268005; MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003	4	1806119	1806119	NM_000142.4:c.1138G>A	NP_000133.1:p.Gly380Arg	NC_000004.11:g.1806119G>A,NC_000004.11:g.1806119G>C	OMIM Allelic Variant:134934.0001,OMIM Allelic Variant:134934.0027	C0001080 100800 Achondroplasia; C0334082 162900 Epidermal nevus; C1838979 252010 Mitochondrial complex I deficiency
NM_017547.3(FOXRED1):c.612_615dupAGTG (p.Ala206Serfs)	55572	FOXRED1	Likely pathogenic;Pathogenic	398124308	RCV000190588; RCV000081797;	N	MedGen:C1838979,OMIM:252010; MedGen:CN221809	11	126144897	126144900	NM_017547.3:c.612_615dupAGTG	NP_060017.1:p.Ala206Serfs	NC_000011.9:g.126144897_126144900dupAGTG	HGMD:CI120093	C1838979 252010 Mitochondrial complex I deficiency; CN221809 not provided
NM_017547.3(FOXRED1):c.694C>T (p.Gln232Ter)	55572	FOXRED1	Pathogenic	267606829	RCV000000015;	N	MedGen:C1838979,OMIM:252010	11	126145284	126145284	NM_017547.3:c.694C>T	NP_060017.1:p.Gln232Ter	NC_000011.9:g.126145284C>T	OMIM Allelic Variant:613622.0001	C1838979 252010 Mitochondrial complex I deficiency
NM_017547.3(FOXRED1):c.1054C>T (p.Arg352Trp)	55572	FOXRED1	Pathogenic	387907087	RCV000024042;	N	MedGen:C1838979,OMIM:252010	11	126146371	126146371	NM_017547.3:c.1054C>T	NP_060017.1:p.Arg352Trp	NC_000011.9:g.126146371C>T	OMIM Allelic Variant:613622.0003	C1838979 252010 Mitochondrial complex I deficiency
NM_017547.3(FOXRED1):c.1289A>G (p.Asn430Ser)	55572	FOXRED1	Pathogenic	267606830	RCV000000016;	N	MedGen:C1838979,OMIM:252010	11	126147412	126147412	NM_017547.3:c.1289A>G	NP_060017.1:p.Asn430Ser	NC_000011.9:g.126147412A>G	OMIM Allelic Variant:613622.0002	C1838979 252010 Mitochondrial complex I deficiency
m.3460G>A	4535	MT-ND1	Pathogenic	199476118	RCV000010371; RCV000143998; RCV000010370;	Y	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0917796,OMIM:535000,SNOMED CT:58610003; MedGen:C1838979,OMIM:252010	M	3460	3460	-	-	NC_012920.1:m.3460G>A	OMIM Allelic Variant:516000.0001	C0917796 535000 Leber's optic atrophy; C0023264 256000 Leigh syndrome; C1838979 252010 Mitochondrial complex I deficiency
m.3902_3908invACCTTGC	4535	MT-ND1	Pathogenic	-1	RCV000010383;	N	MedGen:C1838979,OMIM:252010	M	3902	3908	-	-		OMIM Allelic Variant:516000.0009	C1838979 252010 Mitochondrial complex I deficiency
m.4810G>A	4536	MT-ND2	Pathogenic	267606888	RCV000010368;	N	MedGen:C1838979,OMIM:252010	M	4810	4810	-	-	NC_012920.1:m.4810G>A	OMIM Allelic Variant:516001.0005	C1838979 252010 Mitochondrial complex I deficiency
m.5132_5133delAA	4536	MT-ND2	Pathogenic	199476116	RCV000010367;	N	MedGen:C1838979,OMIM:252010	M	5132	5133	-	-	NC_012920.1:m.5132_5133delAA	OMIM Allelic Variant:516001.0004	C1838979 252010 Mitochondrial complex I deficiency
m.10158T>C	4537	MT-ND3	Pathogenic	199476117	RCV000010360; RCV000010361; RCV000144009;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838951; MedGen:C1838979,OMIM:252010	M	10158	10158	-	-	NC_012920.1:m.10158T>C	OMIM Allelic Variant:516002.0003	C0023264 256000 Leigh syndrome; C1838951 Leigh syndrome due to mitochondrial complex I deficiency; C1838979 252010 Mitochondrial complex I deficiency
m.10191T>C	4537	MT-ND3	Pathogenic	267606890	RCV000010358; RCV000144010;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838979,OMIM:252010	M	10191	10191	-	-	NC_012920.1:m.10191T>C	OMIM Allelic Variant:516002.0001	C0023264 256000 Leigh syndrome; C1838979 252010 Mitochondrial complex I deficiency
m.11777C>A	4538	MT-ND4	Pathogenic	28384199	RCV000010357; RCV000144013;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C1838979,OMIM:252010	M	11777	11777	-	-	NC_012920.1:m.11777C>A	OMIM Allelic Variant:516003.0004	C0023264 256000 Leigh syndrome; C1838979 252010 Mitochondrial complex I deficiency
m.5728T>C	4570	MT-TN	Pathogenic	199476132	RCV000010247; RCV000010248;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000; MedGen:C1838979,OMIM:252010	M	5728	5728	-	-	NC_012920.1:m.5728T>C	OMIM Allelic Variant:590010.0003	C0268237 220110 Cytochrome-c oxidase deficiency; C1838979 252010 Mitochondrial complex I deficiency
NM_004541.3(NDUFA1):c.22G>C (p.Gly8Arg)	4694	NDUFA1	Pathogenic	104894884	RCV000012414;	N	MedGen:C1838979,OMIM:252010	X	119005896	119005896	NM_004541.3:c.22G>C	NP_004532.1:p.Gly8Arg	NC_000023.10:g.119005896G>C	OMIM Allelic Variant:300078.0001	C1838979 252010 Mitochondrial complex I deficiency
NM_004541.3(NDUFA1):c.94G>C (p.Gly32Arg)	4694	NDUFA1	Benign;Pathogenic	1801316	RCV000030653; RCV000173348;	N	MedGen:C1838979,OMIM:252010; MedGen:CN169374	X	119005968	119005968	NM_004541.3:c.94G>C	NP_004532.1:p.Gly32Arg	NC_000023.10:g.119005968G>C	OMIM Allelic Variant:300078.0003	C1838979 252010 Mitochondrial complex I deficiency; CN169374 not specified
NM_004541.3(NDUFA1):c.111G>C (p.Arg37Ser)	4694	NDUFA1	Pathogenic	104894885	RCV000012415;	N	MedGen:C1838979,OMIM:252010	X	119007275	119007275	NM_004541.3:c.111G>C	NP_004532.1:p.Arg37Ser	NC_000023.10:g.119007275G>C	OMIM Allelic Variant:300078.0002	C1838979 252010 Mitochondrial complex I deficiency
NM_016013.3(NDUFAF1):c.758A>G (p.Lys253Arg)	51103	NDUFAF1	Pathogenic	387906957	RCV000023598;	N	MedGen:C1838979,OMIM:252010	15	41687058	41687058	NM_016013.3:c.758A>G	NP_057097.2:p.Lys253Arg	NC_000015.9:g.41687058T>C	OMIM Allelic Variant:606934.0002	C1838979 252010 Mitochondrial complex I deficiency
NM_016013.3(NDUFAF1):c.631C>T (p.Arg211Cys)	51103	NDUFAF1	Pathogenic	387906958	RCV000023599;	N	MedGen:C1838979,OMIM:252010	15	41687185	41687185	NM_016013.3:c.631C>T	NP_057097.2:p.Arg211Cys	NC_000015.9:g.41687185G>A	OMIM Allelic Variant:606934.0003	C1838979 252010 Mitochondrial complex I deficiency
NM_016013.3(NDUFAF1):c.619A>C (p.Thr207Pro)	51103	NDUFAF1	Pathogenic	387906956	RCV000023597;	N	MedGen:C1838979,OMIM:252010	15	41687197	41687197	NM_016013.3:c.619A>C	NP_057097.2:p.Thr207Pro	NC_000015.9:g.41687197T>G	OMIM Allelic Variant:606934.0001	C1838979 252010 Mitochondrial complex I deficiency
NM_174889.4(NDUFAF2):c.139C>T (p.Arg47Ter)	91942	NDUFAF2	Pathogenic	137852863	RCV000001661;	N	MedGen:C1838979,OMIM:252010	5	60368963	60368963	NM_174889.4:c.139C>T	NP_777549.1:p.Arg47Ter	NC_000005.9:g.60368963C>T	OMIM Allelic Variant:609653.0001	C1838979 252010 Mitochondrial complex I deficiency
NM_199069.1(NDUFAF3):c.2T>C (p.Met1Thr)	25915	NDUFAF3	Pathogenic	121918136	RCV000000452;	N	MedGen:C1838979,OMIM:252010	3	49059579	49059579	NM_199069.1:c.2T>C	NP_951032.1:p.Met1Thr	NC_000003.11:g.49059579T>C	OMIM Allelic Variant:612911.0003	C1838979 252010 Mitochondrial complex I deficiency
NM_199069.1(NDUFAF3):c.180_181insT (p.Asp61Terfs)	25915	NDUFAF3	Uncertain significance	752864722	RCV000190607;	N	MedGen:C1838979,OMIM:252010	3	49059881	49059882	NM_199069.1:c.180_181insT	NP_951032.1:p.Asp61Terfs	NC_000003.11:g.49059881_49059882insT	-	C1838979 252010 Mitochondrial complex I deficiency
NM_199074.1(NDUFAF3):c.58G>C (p.Gly20Arg)	25915	NDUFAF3	Pathogenic	121918134	RCV000000450;	N	MedGen:C1838979,OMIM:252010	3	49059930	49059930	NM_199074.1:c.58G>C	NP_951056.1:p.Gly20Arg	NC_000003.11:g.49059930G>C	OMIM Allelic Variant:612911.0001	C1838979 252010 Mitochondrial complex I deficiency
NM_199074.1(NDUFAF3):c.194G>C (p.Arg65Pro)	25915	NDUFAF3	Pathogenic	121918135	RCV000000451;	N	MedGen:C1838979,OMIM:252010	3	49060336	49060336	NM_199074.1:c.194G>C	NP_951056.1:p.Arg65Pro	NC_000003.11:g.49060336G>C	OMIM Allelic Variant:612911.0002	C1838979 252010 Mitochondrial complex I deficiency
NM_014165.3(NDUFAF4):c.194T>C (p.Leu65Pro)	29078	NDUFAF4	Pathogenic	63751061	RCV000000826;	N	MedGen:C1838979,OMIM:252010	6	97344666	97344666	NM_014165.3:c.194T>C	NP_054884.1:p.Leu65Pro	NC_000006.11:g.97344666A>G	OMIM Allelic Variant:611776.0001	C1838979 252010 Mitochondrial complex I deficiency
NM_024120.4(NDUFAF5):c.477A>C (p.Leu159Phe)	79133	NDUFAF5	Pathogenic	267606689	RCV000000601;	N	MedGen:C1838979,OMIM:252010	20	13775585	13775585	NM_024120.4:c.477A>C	NP_077025.2:p.Leu159Phe	NC_000020.10:g.13775585A>C	OMIM Allelic Variant:612360.0002	C1838979 252010 Mitochondrial complex I deficiency
NM_024120.4(NDUFAF5):c.686T>C (p.Leu229Pro)	79133	NDUFAF5	Pathogenic	118203929	RCV000000600;	N	MedGen:C1838979,OMIM:252010	20	13782298	13782298	NM_024120.4:c.686T>C	NP_077025.2:p.Leu229Pro	NC_000020.10:g.13782298T>C	OMIM Allelic Variant:612360.0001	C1838979 252010 Mitochondrial complex I deficiency
NM_002491.2(NDUFB3):c.208G>T (p.Gly70Ter)	4709	NDUFB3	Pathogenic	200800978	RCV000033057;	N	MedGen:C1838979,OMIM:252010	2	201950249	201950249	NM_002491.2:c.208G>T	NP_002482.1:p.Gly70Ter	NC_000002.11:g.201950249G>T	OMIM Allelic Variant:603839.0002	C1838979 252010 Mitochondrial complex I deficiency
NM_005006.6(NDUFS1):c.1855G>A (p.Asp619Asn)	4719	NDUFS1	Pathogenic	397515447	RCV000043634;	N	MedGen:C1838979,OMIM:252010	2	206992550	206992550	NM_005006.6:c.1855G>A	NP_004997.4:p.Asp619Asn	NC_000002.11:g.206992550C>T	OMIM Allelic Variant:157655.0006	C1838979 252010 Mitochondrial complex I deficiency
NM_005006.6(NDUFS1):c.1783A>G (p.Thr595Ala)	4719	NDUFS1	Pathogenic	387907199	RCV000024604;	N	MedGen:C1838979,OMIM:252010	2	206992622	206992622	NM_005006.6:c.1783A>G	NP_004997.4:p.Thr595Ala	NC_000002.11:g.206992622T>C	OMIM Allelic Variant:157655.0005	C1838979 252010 Mitochondrial complex I deficiency
NM_005006.6(NDUFS1):c.1669C>T (p.Arg557Ter)	4719	NDUFS1	Pathogenic	372691318	RCV000043635;	N	MedGen:C1838979,OMIM:252010	2	206994851	206994851	NM_005006.6:c.1669C>T	NP_004997.4:p.Arg557Ter	NC_000002.11:g.206994851G>A	OMIM Allelic Variant:157655.0007	C1838979 252010 Mitochondrial complex I deficiency
NM_005006.6(NDUFS1):c.1222C>T (p.Arg408Cys)	4719	NDUFS1	Pathogenic	149271416	RCV000043636;	N	MedGen:C1838979,OMIM:252010	2	207006705	207006705	NM_005006.6:c.1222C>T	NP_004997.4:p.Arg408Cys	NC_000002.11:g.207006705G>A	OMIM Allelic Variant:157655.0008	C1838979 252010 Mitochondrial complex I deficiency
NM_005006.6(NDUFS1):c.755A>G (p.Asp252Gly)	4719	NDUFS1	Pathogenic	199422224	RCV000015299; RCV000198207;	N	MedGen:C1838979,OMIM:252010; MedGen:CN221809	2	207009733	207009733	NM_005006.6:c.755A>G	NP_004997.4:p.Asp252Gly	NC_000002.11:g.207009733T>C	OMIM Allelic Variant:157655.0002	C1838979 252010 Mitochondrial complex I deficiency; CN221809 not provided
NM_005006.6(NDUFS1):c.721C>T (p.Arg241Trp)	4719	NDUFS1	Pathogenic	199422225	RCV000015300;	N	MedGen:C1838979,OMIM:252010	2	207011643	207011643	NM_005006.6:c.721C>T	NP_004997.4:p.Arg241Trp	NC_000002.11:g.207011643G>A	OMIM Allelic Variant:157655.0003	C1838979 252010 Mitochondrial complex I deficiency
NM_005006.6(NDUFS1):c.691C>G (p.Leu231Val)	4719	NDUFS1	Pathogenic	199422226	RCV000015301;	N	MedGen:C1838979,OMIM:252010	2	207011673	207011673	NM_005006.6:c.691C>G	NP_004997.4:p.Leu231Val	NC_000002.11:g.207011673G>C	OMIM Allelic Variant:157655.0004	C1838979 252010 Mitochondrial complex I deficiency
NM_005006.6(NDUFS1):c.666_668delCAT (p.Ile223del)	4719	NDUFS1	Pathogenic	397515383	RCV000015298;	N	MedGen:C1838979,OMIM:252010	2	207011696	207011698	NM_005006.6:c.666_668delCAT	NP_004997.4:p.Ile223del	NC_000002.11:g.207011696_207011698delATG	OMIM Allelic Variant:157655.0001	C1838979 252010 Mitochondrial complex I deficiency
NM_004550.4(NDUFS2):c.683G>A (p.Arg228Gln)	4720	NDUFS2	Pathogenic	121434427	RCV000007101;	N	MedGen:C1838979,OMIM:252010	1	161179702	161179702	NM_004550.4:c.683G>A	NP_004541.1:p.Arg228Gln	NC_000001.10:g.161179702G>A	OMIM Allelic Variant:602985.0001	C1838979 252010 Mitochondrial complex I deficiency
NM_004550.4(NDUFS2):c.686C>A (p.Pro229Gln)	4720	NDUFS2	Pathogenic	121434428	RCV000007102;	N	MedGen:C1838979,OMIM:252010	1	161179705	161179705	NM_004550.4:c.686C>A	NP_004541.1:p.Pro229Gln	NC_000001.10:g.161179705C>A	OMIM Allelic Variant:602985.0002	C1838979 252010 Mitochondrial complex I deficiency
NM_004550.4(NDUFS2):c.1237T>C (p.Ser413Pro)	4720	NDUFS2	Pathogenic	121434429	RCV000007103; RCV000199278;	N	MedGen:C1838979,OMIM:252010; MedGen:CN221809	1	161183463	161183463	NM_004550.4:c.1237T>C	NP_004541.1:p.Ser413Pro	NC_000001.10:g.161183463T>C	OMIM Allelic Variant:602985.0003	C1838979 252010 Mitochondrial complex I deficiency; CN221809 not provided
NM_004551.2(NDUFS3):c.595C>T (p.Arg199Trp)	4722	NDUFS3	Pathogenic	104894270	RCV000006391; RCV000033058;	N	MedGen:C1838951; MedGen:C1838979,OMIM:252010	11	47603988	47603988	NM_004551.2:c.595C>T	NP_004542.1:p.Arg199Trp	NC_000011.9:g.47603988C>T	OMIM Allelic Variant:603846.0002	C1838951 Leigh syndrome due to mitochondrial complex I deficiency; C1838979 252010 Mitochondrial complex I deficiency
NM_002495.3(NDUFS4):c.44G>A (p.Trp15Ter)	4724	NDUFS4	Pathogenic	104893899	RCV000007293;	N	MedGen:C1838979,OMIM:252010	5	52856536	52856536	NM_002495.3:c.44G>A	NP_002486.1:p.Trp15Ter	NC_000005.9:g.52856536G>A	OMIM Allelic Variant:602694.0004	C1838979 252010 Mitochondrial complex I deficiency
NM_002495.3(NDUFS4):c.291delG (p.Trp97Terfs)	4724	NDUFS4	Pathogenic	121908985	RCV000007291;	N	MedGen:C1838979,OMIM:252010	5	52942176	52942176	NM_002495.3:c.291delG	NP_002486.1:p.Trp97Terfs	NC_000005.9:g.52942176delG	OMIM Allelic Variant:602694.0002	C1838979 252010 Mitochondrial complex I deficiency
NM_002495.3(NDUFS4):c.462delA (p.Lys154Asnfs)	4724	NDUFS4	Pathogenic	587776949	RCV000033251; RCV000133549; RCV000197700;	N	MedGen:C1838951; MedGen:C1838979,OMIM:252010; MedGen:CN221809	5	52978985	52978985	NM_002495.3:c.462delA	NP_002486.1:p.Lys154Asnfs		OMIM Allelic Variant:602694.0006	C1838951 Leigh syndrome due to mitochondrial complex I deficiency; C1838979 252010 Mitochondrial complex I deficiency; CN221809 not provided
NG_013354.1:g.16053_20227del4175	4726	NDUFS6	Pathogenic	-1	RCV000006388;	N	MedGen:C1838979,OMIM:252010	5	1812548	1816722	-	-		OMIM Allelic Variant:603848.0002,dbVar:nssv7487237,dbVar:nsv1197507	C1838979 252010 Mitochondrial complex I deficiency
NM_004553.4(NDUFS6):c.344G>A (p.Cys115Tyr)	4726	NDUFS6	Pathogenic	267606913	RCV000006389;	N	MedGen:C1838979,OMIM:252010	5	1815999	1815999	NM_004553.4:c.344G>A	NP_004544.1:p.Cys115Tyr	NC_000005.9:g.1815999G>A	OMIM Allelic Variant:603848.0003	C1838979 252010 Mitochondrial complex I deficiency
NM_002496.3(NDUFS8):c.187G>C (p.Glu63Gln)	4728	NDUFS8	Pathogenic	397514618	RCV000033056;	N	MedGen:C1838979,OMIM:252010	11	67800467	67800467	NM_002496.3:c.187G>C	NP_002487.1:p.Glu63Gln	NC_000011.9:g.67800467G>C	OMIM Allelic Variant:602141.0007	C1838979 252010 Mitochondrial complex I deficiency
NM_002496.3(NDUFS8):c.229C>T (p.Arg77Trp)	4728	NDUFS8	Pathogenic	146766138	RCV000033054;	N	MedGen:C1838979,OMIM:252010	11	67800607	67800607	NM_002496.3:c.229C>T	NP_002487.1:p.Arg77Trp	NC_000011.9:g.67800607C>T	OMIM Allelic Variant:602141.0005	C1838979 252010 Mitochondrial complex I deficiency
NM_002496.3(NDUFS8):c.236C>T (p.Pro79Leu)	4728	NDUFS8	Pathogenic	28939679	RCV000007941;	N	MedGen:C1838979,OMIM:252010	11	67800614	67800614	NM_002496.3:c.236C>T	NP_002487.1:p.Pro79Leu	NC_000011.9:g.67800614C>T	OMIM Allelic Variant:602141.0001	C1838979 252010 Mitochondrial complex I deficiency
NM_002496.3(NDUFS8):c.254C>T (p.Pro85Leu)	4728	NDUFS8	Pathogenic	121912639	RCV000007943;	N	MedGen:C1838979,OMIM:252010	11	67800632	67800632	NM_002496.3:c.254C>T	NP_002487.1:p.Pro85Leu	NC_000011.9:g.67800632C>T	OMIM Allelic Variant:602141.0003	C1838979 252010 Mitochondrial complex I deficiency
NM_002496.3(NDUFS8):c.305G>A (p.Arg102His)	4728	NDUFS8	Pathogenic	121912638	RCV000007942;	N	MedGen:C1838979,OMIM:252010	11	67800683	67800683	NM_002496.3:c.305G>A	NP_002487.1:p.Arg102His	NC_000011.9:g.67800683G>A	OMIM Allelic Variant:602141.0002	C1838979 252010 Mitochondrial complex I deficiency
NM_002496.3(NDUFS8):c.413G>A (p.Arg138His)	4728	NDUFS8	Pathogenic	111033588	RCV000007944;	N	MedGen:C1838979,OMIM:252010	11	67803760	67803760	NM_002496.3:c.413G>A	NP_002487.1:p.Arg138His	NC_000011.9:g.67803760G>A	OMIM Allelic Variant:602141.0004	C1838979 252010 Mitochondrial complex I deficiency
NM_002496.3(NDUFS8):c.476C>A (p.Ala159Asp)	4728	NDUFS8	Pathogenic	397514617	RCV000033055;	N	MedGen:C1838979,OMIM:252010	11	67803823	67803823	NM_002496.3:c.476C>A	NP_002487.1:p.Ala159Asp	NC_000011.9:g.67803823C>A	OMIM Allelic Variant:602141.0006	C1838979 252010 Mitochondrial complex I deficiency
NM_007103.3(NDUFV1):c.175C>T (p.Arg59Ter)	4723	NDUFV1	Pathogenic	768050261	RCV000015101;	N	MedGen:C1838979,OMIM:252010	11	67376042	67376042	NM_007103.3:c.175C>T	NP_009034.2:p.Arg59Ter	NC_000011.9:g.67376042C>T	OMIM Allelic Variant:161015.0002	C1838979 252010 Mitochondrial complex I deficiency
NM_007103.3(NDUFV1):c.640G>A (p.Glu214Lys)	4723	NDUFV1	Pathogenic	121913661	RCV000015103;	N	MedGen:C1838979,OMIM:252010	11	67377981	67377981	NM_007103.3:c.640G>A	NP_009034.2:p.Glu214Lys	NC_000011.9:g.67377981G>A	OMIM Allelic Variant:161015.0004	C1838979 252010 Mitochondrial complex I deficiency
NM_007103.3(NDUFV1):c.1022C>T (p.Ala341Val)	4723	NDUFV1	Uncertain significance	121913660	RCV000015102;	N	MedGen:C1838979,OMIM:252010	11	67378982	67378982	NM_007103.3:c.1022C>T	NP_009034.2:p.Ala341Val	NC_000011.9:g.67378982C>T	OMIM Allelic Variant:161015.0003	C1838979 252010 Mitochondrial complex I deficiency
NM_007103.3(NDUFV1):c.1268C>T (p.Thr423Met)	4723	NDUFV1	Pathogenic	121913659	RCV000015100; RCV000200093;	N	MedGen:C1838979,OMIM:252010; MedGen:CN221809	11	67379696	67379696	NM_007103.3:c.1268C>T	NP_009034.2:p.Thr423Met	NC_000011.9:g.67379696C>T	OMIM Allelic Variant:161015.0001	C1838979 252010 Mitochondrial complex I deficiency; CN221809 not provided
NM_002524.4(NRAS):c.182A>G (p.Gln61Arg)	4893	NRAS	Pathogenic	11554290	RCV000014914; RCV000037574; RCV000032847; RCV000148032; RCV000114744; RCV000114745;	N	MedGen:C0007131,SNOMED CT:254637007; MedGen:C0206682,OMIM:188470; MedGen:C0265318,OMIM:163200,SNOMED CT:239112008; MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003; MedGen:C0544862,OMIM:249400,ORPHA:2481; MedGen:C1842036,OMIM:137550	1	115256529	115256529	NM_002524.4:c.182A>G	NP_002515.1:p.Gln61Arg	NC_000001.10:g.115256529T>C	OMIM Allelic Variant:164790.0002	C0334082 162900 Epidermal nevus; C0265318 163200 Epidermal nevus syndrome; C1842036 137550 Giant pigmented hairy nevus; C1838979 252010 Mitochondrial complex I deficiency; C0544862 249400 Neurocutaneous melanosis; C0007131 Non-small cell lung cancer; C0
NM_002524.4(NRAS):c.101C>T (p.Pro34Leu)	4893	NRAS	Pathogenic	397514553	RCV000208568; RCV000032848;	N	MedGen:C0041409,OMIM:163950; MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003	1	115258681	115258681	NM_002524.4:c.101C>T	NP_002515.1:p.Pro34Leu	NC_000001.10:g.115258681G>A	OMIM Allelic Variant:164790.0006	C0334082 162900 Epidermal nevus; C1838979 252010 Mitochondrial complex I deficiency; C0041409 163950 Noonan syndrome 1
NM_002524.4(NRAS):c.35G>A (p.Gly12Asp)	4893	NRAS	Pathogenic	121913237	RCV000144963; RCV000032849; RCV000158980;	N	MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003; MedGen:C0349639,OMIM:607785,ORPHA:86834; MedGen:CN166718	1	115258747	115258747	NM_002524.4:c.35G>A	NP_002515.1:p.Gly12Asp	NC_000001.10:g.115258747C>A,NC_000001.10:g.115258747C>G,NC_000001.10:g.115258747	OMIM Allelic Variant:164790.0007	C0334082 162900 Epidermal nevus; C0349639 607785 Juvenile myelomonocytic leukemia; C1838979 252010 Mitochondrial complex I deficiency; CN166718 Rasopathy
NM_025152.2(NUBPL):c.166G>A (p.Gly56Arg)	80224	NUBPL	Pathogenic;Uncertain significance	200401432	RCV000000017; RCV000196589;	N	MedGen:C1838979,OMIM:252010; MedGen:CN169374	14	32031331	32031331	NM_025152.2:c.166G>A	NP_079428.2:p.Gly56Arg	NC_000014.8:g.32031331G>A	OMIM Allelic Variant:613621.0001	C0950123 Inborn genetic diseases; C1838979 252010 Mitochondrial complex I deficiency; CN221809 not provided; CN169374 not specified
NM_025152.2(NUBPL):c.166G>A (p.Gly56Arg)	80224	NUBPL	Pathogenic;Uncertain significance	200401432	RCV000000017; RCV000196589;	N	MedGen:C1838979,OMIM:252010; MedGen:CN169374	14	32031331	32031331	NM_025152.2:c.166G>A	NP_079428.2:p.Gly56Arg	NC_000014.8:g.32031331G>A	OMIM Allelic Variant:613621.0001	C1838979 252010 Mitochondrial complex I deficiency; CN169374 not specified
NM_025152.2(NUBPL):c.311T>C (p.Leu104Pro)	80224	NUBPL	Likely pathogenic;Pathogenic	201430951	RCV000191115; RCV000210568;	N	MedGen:C0950123; MedGen:C1838979,OMIM:252010	14	32068514	32068514	NM_025152.2:c.311T>C	NP_079428.2:p.Leu104Pro	NC_000014.8:g.32068514T>C	-	C0950123 Inborn genetic diseases; C1838979 252010 Mitochondrial complex I deficiency
NM_025152.2(NUBPL):c.313G>T (p.Asp105Tyr)	80224	NUBPL	Pathogenic	397515440	RCV000043477;	N	MedGen:C1838979,OMIM:252010	14	32068516	32068516	NM_025152.2:c.313G>T	NP_079428.2:p.Asp105Tyr	NC_000014.8:g.32068516G>T	OMIM Allelic Variant:613621.0004	C1838979 252010 Mitochondrial complex I deficiency
NM_025152.2(NUBPL):c.815-27T>C	80224	NUBPL	Pathogenic	118161496	RCV000000017; RCV000198391; RCV000210589;	N	MedGen:C0950123; MedGen:C1838979,OMIM:252010; MedGen:CN221809	14	32319298	32319298	NM_025152.2:c.815-27T>C		NC_000014.8:g.32319298T>C	-	C0950123 Inborn genetic diseases; C1838979 252010 Mitochondrial complex I deficiency; CN221809 not provided; CN169374 not specified
NM_025152.2(NUBPL):c.815-27T>C	80224	NUBPL	Pathogenic	118161496	RCV000000017; RCV000198391; RCV000210589;	N	MedGen:C0950123; MedGen:C1838979,OMIM:252010; MedGen:CN221809	14	32319298	32319298	NM_025152.2:c.815-27T>C		NC_000014.8:g.32319298T>C	-	C0950123 Inborn genetic diseases; C1838979 252010 Mitochondrial complex I deficiency; CN221809 not provided
NM_006218.3(PIK3CA):c.1634A>G (p.Glu545Gly)	5290	PIK3CA	Pathogenic	121913274	RCV000014637; RCV000014638;	N	MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003; MedGen:C0699790,OMIM:114500,SNOMED CT:269533000	3	178936092	178936092	NM_006218.3:c.1634A>G	NP_006209.2:p.Glu545Gly		OMIM Allelic Variant:171834.0004	C0699790 114500 Carcinoma of colon; C0334082 162900 Epidermal nevus; C1838979 252010 Mitochondrial complex I deficiency