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

MSeqDR Mitochondrial Disease Portal

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

Disease Browser
Parent Node: Mitochondrial Diseases (D028361)
..Starting node ..Mitochondrial Complex III Deficiency (C565128)
Child Nodes:
........MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000) L: 00017;
Sister Nodes:
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784) L: 00105;
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006) L: 00419;
..Ataxia and Polyneuropathy, Adult-Onset (C564020)
..Ataxia Neuropathy Spectrum (C579922)
..Bjornstad syndrome (C537633) L: 00084;
..Carbamoyl-Phosphate Synthase I Deficiency Disease (D020165) L: 00085;
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461) L: 00486;
..Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463) L: 00487;
..Childhood Myocerebrohepatopathy Spectrum (C579990)
..Coenzyme Q10 Deficiency (C564403)
..Combined Oxidative Phosphorylation Deficiency 4 (C565690) L: 00098;
..Combined Oxidative Phosphorylation Deficiency 5 (C567126) L: 00099;
..Cowden-Like Syndrome (C567337)
..Cytochrome-c Oxidase Deficiency (D030401) 2 C:2 L: 00012;
..Deoxyguanosine Kinase Deficiency (C580039)
..ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388) L: 00014;
..ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086) L: 00525;
..Finnish lethal neonatal metabolic syndrome (C537934) L: 00104;
..Friedreich Ataxia (D005621) 6 C:1
..Hypermetabolism due to Defect in Mitochondria (C565498)
..Hypomyelination, Global Cerebral (C567847) L: 00107;
..Hypotonia-Cystinuria Syndrome (C564710) L: 00416;
..Kearns-Sayre Syndrome (D007625) 1 L: 00143;
..Leigh Disease (D007888) 12 C:3 L: 00015;
..Leukodystrophy, Hypomyelinating, 4 (C567390) L: 00421;
..Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009) L: 00418;
..LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..Mitochondrial complex I deficiency (C537475) L: 00011;
..Mitochondrial Complex II Deficiency (C565375) L: 00016;
..Mitochondrial Complex III Deficiency (C565128) L: 00018; 00019; 00020; 00021; 00022; 00507; 00508; 00528;
..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273) L: 00023;
..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052) L: 00024;
..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (OMIM:614053) L: 00025;
..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228) L: 00010;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880) L: 00031;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700) L: 00032;
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33 C:22 L: 00400;
..Mitochondrial Phosphate Carrier Deficiency (C563665) L: 00040;
..MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741) L: 00041;
..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1 L: 00439;
..Multiple Mitochondrial Dysfunctions Syndrome (C565304) L: 00013; 00043; 00530;
..Myopathy with Giant Abnormal Mitochondria (C564971)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Navajo neurohepatopathy (C538344) 1 C:1 L: 00035;
..Noninsulin-dependent diabetes mellitus with deafness (C536246)
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Autosomal Dominant (D029241) L: 00073;
..Optic Atrophy, Hereditary, Leber (D029242) 1 L: 00072; 00492;
..Parkinson Disease, Mitochondrial (C564015) L: 00170;
..Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575) L: 00117;
..Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768) L: 00049;
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
..Pyruvate Carboxylase Deficiency Disease (D015324) 1 L: 00398;
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4 C:3 L: 00442;
..Sarcosinemia (C537236)
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Succinate-Coa Ligase Deficiency (C580473)
..VDAC Deficiency (C565767)
..VLCAD deficiency (C536353) L: 00436;
..Wolfram Syndrome 2 (C565733) L: 00490;
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8084

Name:

Mitochondrial Complex III Deficiency

Definition:

Alternative IDs:

ParentIDs:

MESH:D028361

TreeNumbers:

C18.452.660/C565128

Synonyms:

Slim Mappings:

Metabolic disease

Reference:

MedGen: C565128
MeSH: C565128
OMIM: 615157;
MSeqDR : 00018; 00019; 00020; 00021; 00022; 00507; 00508; 00528;
Genes: CYC1; LYRM7; TTC19; UQCC2; UQCC3; UQCRB; UQCRC2; UQCRQ;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000718	Aggressive behavior
3	HP:0000739	Anxiety NAMDC: Anxiety
4	HP:0002186	Apraxia
5	HP:0040078	Axonal degeneration
6	HP:0003487	Babinski sign	HP:0040283
7	HP:0002067	Bradykinesia
8	HP:0001272	Cerebellar atrophy
9	HP:0002059	Cerebral atrophy
10	HP:0100543	Cognitive impairment NAMDC: Cognitive delay
11	HP:0000716	Depressivity NAMDC: Depression
12	HP:0001260	Dysarthria NAMDC: Dysarthria
13	HP:0002075	Dysdiadochokinesis
14	HP:0001310	Dysmetria
15	HP:0001618	Dysphonia
16	HP:0001332	Dystonia NAMDC: Dystonia
17	HP:0001263	Global developmental delay NAMDC: Mental retardation	HP:0040283
18	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)	HP:0040283
19	HP:0000738	Hallucinations
20	HP:0000365	Hearing impairment	HP:0040283
21	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)	HP:0040283
22	HP:0002311	Incoordination
23	HP:0001324	Muscle weakness NAMDC: Muscle weakness: diffuse
24	HP:0002180	Neurodegeneration
25	HP:0000639	Nystagmus
26	HP:0000722	Obsessive-compulsive behavior
27	HP:0002542	Olivopontocerebellar atrophy
28	HP:0003812	Phenotypic variability
29	HP:0000709	Psychosis
30	HP:0003202	Skeletal muscle atrophy
31	HP:0002313	Spastic paraparesis
32	HP:0001337	Tremor

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_017775.4(TTC19):c.-15G>A	54902	TTC19	Benign	73276080	RCV000173457\|RCV000360489;	N	MedGen:CN169374\|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15903148	15903148	17:g.15903148G>A	ClinGen:CA302703	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.-1C>T	54902	TTC19	Conflicting interpretations of pathogenicity	2302414	RCV000125734\|RCV001126712;	N	MedGen:CN169374\|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15903162	15903162	17:g.15903162C>T	ClinGen:CA291431	CN169374 not specified;
NM_017775.4(TTC19):c.1A>G (p.Met1Val)	54902	TTC19	Conflicting interpretations of pathogenicity	749196122	RCV000578496\|RCV001267140\|RCV002248791;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15903163	15903163	17:g.15903163A>G	ClinGen:CA8407232	CN517202 not provided;
NM_017775.4(TTC19):c.25C>T (p.Leu9=)	54902	TTC19	Conflicting interpretations of pathogenicity	568088809	RCV000270549\|RCV000977308;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:C3661900	17	15903187	15903187	17:g.15903187C>T	ClinGen:CA10649539	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.122A>G (p.Gln41Arg)	54902	TTC19	Conflicting interpretations of pathogenicity	1462593526	RCV000610053\|RCV001126713\|RCV001860334\|RCV002531668;	N	MedGen:CN169374\|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	17	15903284	15903284	17:g.15903284A>G	ClinGen:CA398382480	CN169374 not specified;
NM_017775.4(TTC19):c.146C>T (p.Pro49Leu)	54902	TTC19	Conflicting interpretations of pathogenicity	537063695	RCV000325478\|RCV000676981;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:C3661900	17	15903308	15903308	17:g.15903308C>T	ClinGen:CA8407243	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.155G>A (p.Arg52Gln)	54902	TTC19	Uncertain significance	886052626	RCV000366218\|RCV002521094;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MeSH:D030342,MedGen:C0950123	17	15903317	15903317	17:g.15903317G>A	ClinGen:CA10649540	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.200C>T (p.Ser67Leu)	54902	TTC19	Uncertain significance	1198487870	RCV001333967;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15903447	15903447	15903447	-
NM_017775.4(TTC19):c.270C>G (p.Asp90Glu)	54902	TTC19	Uncertain significance	757875189	RCV000274987;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15903517	15903517	17:g.15903517C>G	ClinGen:CA8407271	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.304C>G (p.Arg102Gly)	54902	TTC19	Uncertain significance	961191529	RCV001127114\|RCV002556776\|RCV002558254;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	17	15903551	15903551	17:g.15903551C>G	-
NM_017775.4(TTC19):c.312+43C>A	54902	TTC19	Benign	758853	RCV001840960;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15903602	15903602	15903602	-
NM_017775.4(TTC19):c.313-39A>G	54902	TTC19	Benign	3760298	RCV001608276\|RCV001840821;	N	MedGen:C3661900\|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15905190	15905190	15905190	-
NM_017775.4(TTC19):c.313-4T>C	54902	TTC19	Conflicting interpretations of pathogenicity	374666326	RCV000599808\|RCV000612292\|RCV002529566;	N	MedGen:CN517202\|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MeSH:D030342,MedGen:C0950123	17	15905225	15905225	17:g.15905225T>C	ClinGen:CA8407315	C3554605 615157 Mitochondrial complex III deficiency, nuclear type 2;
NM_017775.4(TTC19):c.364G>A (p.Ala122Thr)	54902	TTC19	Uncertain significance	377441281	RCV000330052\|RCV001372392;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:CN517202	17	15905280	15905280	17:g.15905280G>A	ClinGen:CA8407320	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.371G>A (p.Arg124His)	54902	TTC19	Uncertain significance	139693104	RCV001127115\|RCV002556777;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:CN517202	17	15905287	15905287	17:g.15905287G>A	-
NM_017775.4(TTC19):c.421T>G (p.Leu141Val)	54902	TTC19	Uncertain significance	755530528	RCV000389338;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15905337	15905337	17:g.15905337T>G	ClinGen:CA8407335	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.424-3C>G	54902	TTC19	Uncertain significance	1283394462	RCV001261926;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15906104	15906104	17:g.15906104C>G	-
NM_017775.4(TTC19):c.439T>C (p.Phe147Leu)	54902	TTC19	Uncertain significance	765464563	RCV000295050\|RCV002522916;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MeSH:D030342,MedGen:C0950123	17	15906122	15906122	17:g.15906122T>C	ClinGen:CA8407381	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.517C>T (p.Gln173Ter)	54902	TTC19	Pathogenic	387907094	RCV000024068;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15907199	15907199	17:g.15907199C>T	ClinGen:CA129643,OMIM:613814.0002	C3554605 615157 Mitochondrial complex III deficiency, nuclear type 2;
NM_017775.4(TTC19):c.554T>C (p.Leu185Pro)	54902	TTC19	Conflicting interpretations of pathogenicity	1187416161	RCV000503700\|RCV002524353;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:CN517202	17	15907549	15907549	17:g.15907549T>C	ClinGen:CA398387442	C3554605 615157 Mitochondrial complex III deficiency, nuclear type 2;
NM_017775.4(TTC19):c.573G>A (p.Ala191=)	54902	TTC19	Benign	58517927	RCV000125728\|RCV000317077\|RCV000676982;	N	MedGen:CN169374\|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:C3661900	17	15907568	15907568	17:g.15907568G>A	ClinGen:CA291427	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.581+1_581+5del	54902	TTC19	Likely pathogenic	1970827483	RCV001095727;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15907575	15907579	17:g.15907575_15907579del	-
NM_017775.4(TTC19):c.581+1G>A	54902	TTC19	Pathogenic	1970827663	RCV001785094;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15907577	15907577	15907577	-
NM_017775.4(TTC19):c.581+4A>C	54902	TTC19	Uncertain significance	367636730	RCV001123071;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15907580	15907580	17:g.15907580A>C	-
NM_017775.4(TTC19):c.583C>T (p.Gln195Ter)	54902	TTC19	Pathogenic/Likely pathogenic	764720544	RCV001261925\|RCV001819965\|RCV003328480;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:CN517202\|Human Phenotype Ontology:HP:0000717,MONDO:MONDO:0005260,MedGen:C0004352,OMIM:209850	17	15909789	15909789	17:g.15909789C>T	-
NM_017775.4(TTC19):c.601_604del (p.Gly201fs)	54902	TTC19	Pathogenic	794726691	RCV000088675\|RCV000201515;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:CN517202	17	15909804	15909807	17:g.15909804_15909807del	ClinGen:CA150754,OMIM:613814.0003	C3554605 615157 Mitochondrial complex III deficiency, nuclear type 2;
NM_017775.4(TTC19):c.612C>G (p.Phe204Leu)	54902	TTC19	Uncertain significance	544027755	RCV000371738\|RCV003165459;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MeSH:D030342,MedGen:C0950123	17	15909818	15909818	NC_000017.10:g.15909818C>G	ClinGen:CA325037	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.656T>G (p.Leu219Ter)	54902	TTC19	Pathogenic	747166010	RCV000024067\|RCV001268690\|RCV001267139;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	17	15909862	15909862	17:g.15909862T>G	ClinGen:CA8407477,OMIM:613814.0001	C3554605 615157 Mitochondrial complex III deficiency, nuclear type 2;
NM_017775.4(TTC19):c.677-6C>T	54902	TTC19	Uncertain significance	769438082	RCV001123072;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15928325	15928325	17:g.15928325C>T	-
NM_017775.4(TTC19):c.713T>C (p.Met238Thr)	54902	TTC19	Conflicting interpretations of pathogenicity	140719848	RCV001123073\|RCV002291724\|RCV002556656;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	17	15928367	15928367	17:g.15928367T>C	-
NM_017775.4(TTC19):c.758C>T (p.Pro253Leu)	54902	TTC19	Conflicting interpretations of pathogenicity	78882347	RCV000282051\|RCV000425011\|RCV000884890;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:CN169374\|MedGen:C3661900	17	15928412	15928412	17:g.15928412C>T	ClinGen:CA8407512	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.766G>A (p.Ala256Thr)	54902	TTC19	Uncertain significance	1042684635	RCV000660604;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15928420	15928420	17:g.15928420G>A	-	C3554605 615157 Mitochondrial complex III deficiency, nuclear type 2;
NM_017775.4(TTC19):c.781G>A (p.Glu261Lys)	54902	TTC19	Uncertain significance	755952117	RCV000337047;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15928435	15928435	17:g.15928435G>A	ClinGen:CA8407515	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.787G>T (p.Ala263Ser)	54902	TTC19	Uncertain significance	141892030	RCV000196267\|RCV001123074\|RCV002517268;	N	MedGen:CN517202\|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MeSH:D030342,MedGen:C0950123	17	15928441	15928441	NC_000017.10:g.15928441G>T	ClinGen:CA320687	CN169374 not specified;
NM_017775.4(TTC19):c.817G>T (p.Glu273Ter)	54902	TTC19	Pathogenic	1555530551	RCV000503114;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15928471	15928471	NC_000017.10:g.15928471G>T	ClinGen:CA398375276	C3554605 615157 Mitochondrial complex III deficiency, nuclear type 2;
NM_017775.4(TTC19):c.820A>G (p.Arg274Gly)	54902	TTC19	Conflicting interpretations of pathogenicity	147111211	RCV000199974\|RCV001124154\|RCV002517269;	N	MedGen:C3661900\|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MeSH:D030342,MedGen:C0950123	17	15928474	15928474	17:g.15928474A>G	ClinGen:CA324524	CN169374 not specified;
NM_017775.4(TTC19):c.829C>T (p.Gln277Ter)	54902	TTC19	Pathogenic	794726692	RCV000088678;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15928483	15928483	17:g.15928483C>T	ClinGen:CA150755,OMIM:613814.0006	C3554605 615157 Mitochondrial complex III deficiency, nuclear type 2;
NM_017775.4(TTC19):c.898A>C (p.Ile300Leu)	54902	TTC19	Conflicting interpretations of pathogenicity	143293913	RCV000926098\|RCV001334943;	N	MedGen:C3661900\|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15929920	15929920	17:g.15929920A>C	-
NM_017775.4(TTC19):c.903dup (p.Met302fs)	54902	TTC19	Likely pathogenic	-1	RCV003148151;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15929924	15929925		-
NM_017775.4(TTC19):c.906G>A (p.Met302Ile)	54902	TTC19	Conflicting interpretations of pathogenicity	-1	RCV002928121\|RCV003340563;	N	MedGen:CN517202\|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15929928	15929928	NC_000017.10:g.15929928G>A	-
NM_017775.4(TTC19):c.988C>G (p.His330Asp)	54902	TTC19	Uncertain significance	1971572630	RCV001329000;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15930010	15930010	15930010	-
NM_017775.4(TTC19):c.994+3A>T	54902	TTC19	Uncertain significance	189614332	RCV000377299\|RCV001850718;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:C3661900	17	15930019	15930019	17:g.15930019A>T	ClinGen:CA8407568	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.997C>T (p.Arg333Ter)	54902	TTC19	Uncertain significance	192522753	RCV000196721\|RCV003389321;	N	MedGen:C3661900\|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15930690	15930690	17:g.15930690C>T	ClinGen:CA321143	CN169374 not specified;
NM_017775.4(TTC19):c.998G>A (p.Arg333Gln)	54902	TTC19	Uncertain significance	1483019285	RCV001124155\|RCV001856635;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:CN517202	17	15930691	15930691	17:g.15930691G>A	-
NM_017775.4(TTC19):c.1002T>A (p.Tyr334Ter)	54902	TTC19	Uncertain significance	-1	RCV003338222;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15930695	15930695		-
NM_017775.4(TTC19):c.1004C>T (p.Thr335Ile)	54902	TTC19	Conflicting interpretations of pathogenicity	78193493	RCV000198085\|RCV000974132\|RCV001124156;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15930697	15930697	NC_000017.10:g.15930697C>T	ClinGen:CA322567	CN169374 not specified;
NM_017775.4(TTC19):c.1038G>A (p.Lys346=)	54902	TTC19	Uncertain significance	1971602261	RCV001124157;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15930731	15930731	17:g.15930731G>A	-
NM_017775.4(TTC19):c.1041A>G (p.Gln347=)	54902	TTC19	Conflicting interpretations of pathogenicity	77955179	RCV000125727\|RCV000282832\|RCV000880549;	N	MedGen:CN169374\|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:C3661900	17	15930734	15930734	17:g.15930734A>G	ClinGen:CA291425	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.1063A>G (p.Ile355Val)	54902	TTC19	Uncertain significance	372717953	RCV001124158\|RCV001856636;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:CN517202	17	15930756	15930756	17:g.15930756A>G	-
NM_017775.4(TTC19):c.*27G>A	54902	TTC19	Conflicting interpretations of pathogenicity	150843177	RCV000396546\|RCV001572443;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:C3661900	17	15930863	15930863	NC_000017.10:g.15930863G>A	ClinGen:CA8407612	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*46T>C	54902	TTC19	Benign	3744328	RCV000307629\|RCV001712331;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:C3661900	17	15930882	15930882	NC_000017.10:g.15930882T>C	ClinGen:CA8407614	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*175A>C	54902	TTC19	Uncertain significance	1005753609	RCV001126825;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931011	15931011	17:g.15931011A>C	-
NM_017775.4(TTC19):c.*195A>G	54902	TTC19	Conflicting interpretations of pathogenicity	116412774	RCV001126826\|RCV001546559;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:C3661900	17	15931031	15931031	17:g.15931031A>G	-
NM_017775.4(TTC19):c.*219C>T	54902	TTC19	Uncertain significance	986681161	RCV001126827;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931055	15931055	17:g.15931055C>T	-
NM_017775.4(TTC19):c.*220G>A	54902	TTC19	Uncertain significance	1024284604	RCV001126828;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931056	15931056	17:g.15931056G>A	-
NM_017775.4(TTC19):c.*226T>C	54902	TTC19	Benign/Likely benign	73981412	RCV001126829\|RCV001724253;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:C3661900	17	15931062	15931062	17:g.15931062T>C	-
NM_017775.4(TTC19):c.*258C>G	54902	TTC19	Uncertain significance	1178465677	RCV001126830;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931094	15931094	17:g.15931094C>G	-
NM_017775.4(TTC19):c.*297G>A	54902	TTC19	Uncertain significance	886052628	RCV000343739;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931133	15931133	NC_000017.10:g.15931133G>A	ClinGen:CA10644913	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*301G>A	54902	TTC19	Uncertain significance	116946711	RCV000398238;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931137	15931137	NC_000017.10:g.15931137G>A	ClinGen:CA8407652	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*335C>T	54902	TTC19	Conflicting interpretations of pathogenicity	117087989	RCV000308810\|RCV002510858;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:C3661900	17	15931171	15931171	NC_000017.10:g.15931171C>T	ClinGen:CA8407655	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*536C>T	54902	TTC19	Uncertain significance	998893430	RCV001127229;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931372	15931372	17:g.15931372C>T	-
NM_017775.4(TTC19):c.*578C>T	54902	TTC19	Uncertain significance	188915420	RCV000274145;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931414	15931414	NC_000017.10:g.15931414C>T	ClinGen:CA10648618	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*600G>A	54902	TTC19	Likely benign	73981413	RCV000315175;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931436	15931436	NC_000017.10:g.15931436G>A	ClinGen:CA8407668	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*676C>T	54902	TTC19	Uncertain significance	886052631	RCV000261054;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931512	15931512	NC_000017.10:g.15931512C>T	ClinGen:CA10638967	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*709T>A	54902	TTC19	Likely benign	11554356	RCV000316310;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931545	15931545	NC_000017.10:g.15931545T>A	ClinGen:CA8407672	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*746C>G	54902	TTC19	Uncertain significance	143866104	RCV000375460;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931582	15931582	NC_000017.10:g.15931582C>G	ClinGen:CA8407673	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*753A>G	54902	TTC19	Uncertain significance	886052632	RCV000262226;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931589	15931589	NC_000017.10:g.15931589A>G	ClinGen:CA10638969	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*834C>T	54902	TTC19	Uncertain significance	528061494	RCV001123162;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931670	15931670	17:g.15931670C>T	-
NM_017775.4(TTC19):c.*857G>A	54902	TTC19	Benign	72821769	RCV000322473;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931693	15931693	NC_000017.10:g.15931693G>A	ClinGen:CA8407677	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*971G>A	54902	TTC19	Likely benign	73981414	RCV000377059;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931807	15931807	NC_000017.10:g.15931807G>A	ClinGen:CA8407679	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*999T>C	54902	TTC19	Uncertain significance	945625353	RCV001123163;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931835	15931835	17:g.15931835T>C	-
NM_017775.4(TTC19):c.*1003C>T	54902	TTC19	Uncertain significance	1971668947	RCV001123164;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931839	15931839	17:g.15931839C>T	-
NM_017775.4(TTC19):c.*1008G>A	54902	TTC19	Uncertain significance	886052633	RCV000287348;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931844	15931844	NC_000017.10:g.15931844G>A	ClinGen:CA10648619	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*1012T>C	54902	TTC19	Benign	57322947	RCV001123165;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931848	15931848	17:g.15931848T>C	-
NM_017775.4(TTC19):c.*1099C>T	54902	TTC19	Uncertain significance	886052634	RCV000342353;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931935	15931935	NC_000017.10:g.15931935C>T	ClinGen:CA10649549	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*1152C>T	54902	TTC19	Uncertain significance	60619976	RCV001124250;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15931988	15931988	17:g.15931988C>T	-
NM_017775.4(TTC19):c.*1169G>A	54902	TTC19	Uncertain significance	117255702	RCV001124251;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15932005	15932005	17:g.15932005G>A	-
NM_017775.4(TTC19):c.*1194T>A	54902	TTC19	Conflicting interpretations of pathogenicity	116722822	RCV000382710\|RCV003418014;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157\|MedGen:C3661900	17	15932030	15932030	NC_000017.10:g.15932030T>A	ClinGen:CA8407687	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*1318A>C	54902	TTC19	Uncertain significance	886052638	RCV000299403;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15932154	15932154	17:g.15932154A>C	ClinGen:CA10648621	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*1320A>C	54902	TTC19	Uncertain significance	886052639	RCV000358933;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15932156	15932156	17:g.15932156A>C	ClinGen:CA10648624	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*1321A>C	54902	TTC19	Uncertain significance	886052640	RCV000266011;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15932157	15932157	17:g.15932157A>C	ClinGen:CA10649551	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*1333A>G	54902	TTC19	Uncertain significance	182682320	RCV001124252;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15932169	15932169	17:g.15932169A>G	-
NM_017775.4(TTC19):c.*1464A>C	54902	TTC19	Uncertain significance	1971725558	RCV001126921;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15932300	15932300	17:g.15932300A>C	-
NM_017775.4(TTC19):c.*1469G>A	54902	TTC19	Uncertain significance	185261669	RCV001126922;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15932305	15932305	17:g.15932305G>A	-
NM_017775.4(TTC19):c.*1496A>G	54902	TTC19	Uncertain significance	776834358	RCV001126923;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15932332	15932332	17:g.15932332A>G	-
NM_017775.4(TTC19):c.*1543A>G	54902	TTC19	Likely benign	118174899	RCV000380277;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15932379	15932379	17:g.15932379A>G	ClinGen:CA8407737	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*1562A>G	54902	TTC19	Uncertain significance	749875042	RCV000269444;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15932398	15932398	17:g.15932398A>G	ClinGen:CA10648632	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*1589T>C	54902	TTC19	Likely benign	117133932	RCV001126924;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15932425	15932425	17:g.15932425T>C	-
NM_017775.4(TTC19):c.*1738T>C	54902	TTC19	Uncertain significance	111241994	RCV000326727;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15932574	15932574	NC_000017.10:g.15932574T>C	ClinGen:CA8407746	C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*1791T>C	54902	TTC19	Benign	9890012	RCV000383682;	N	MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	17	15932627	15932627	NC_000017.10:g.15932627T>C	ClinGen:CA8407748	C1852372 124000 Mitochondrial complex III deficiency;