MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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 ..Multiple Mitochondrial Dysfunctions Syndrome (C565304)
Child Nodes:
........MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299) L: 00044;
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:

8262

Name:

Multiple Mitochondrial Dysfunctions Syndrome

Definition:

Alternative IDs:

OMIM:605711|OMIM:615330|OMIM:616370

ParentIDs:

MESH:D028361

TreeNumbers:

C18.452.660/C565304

Synonyms:

Slim Mappings:

Metabolic disease

Reference:

MedGen: C565304
MeSH: C565304
OMIM: 605711;
MSeqDR : 00013; 00043; 00530;
Genes: IBA57; NFU1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008972	Decreased activity of mitochondrial respiratory chain
3	HP:0001508	Failure to thrive
4	HP:0011968	Feeding difficulties
5	HP:0001263	Global developmental delay NAMDC: Mental retardation
6	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
7	HP:0003128	Lactic acidosis
8	HP:0001254	Lethargy
9	HP:0001324	Muscle weakness NAMDC: Muscle weakness: diffuse
10	HP:0002092	Pulmonary arterial hypertension
11	HP:0002878	Respiratory failure

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001002755.4(NFU1):c.*103G>A	27247	NFU1	Uncertain significance	rs774104725	RCV000297843;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69623275	69623275	NC_000002.11:g.69623275C>T	ClinGen:CA1694042	C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.4(NFU1):c.733G>A (p.Glu245Lys)	27247	NFU1	Uncertain significance	-1	RCV002583653;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69623410	69623410	NC_000002.11:g.69623410C>T	-
NM_001002755.4(NFU1):c.721-8G>C	27247	NFU1	Likely benign	-1	RCV002094826;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69623430	69623430	69623430	-
NC_000002.11:g.(?_69627476)_(69627690_?)dup	27247	NFU1	Likely pathogenic	-1	RCV000802581;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69627476	69627690		-
NM_001002755.4(NFU1):c.720+4T>A	27247	NFU1	Uncertain significance	-1	RCV001920379;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69627492	69627492	69627492	-
NM_001002755.4(NFU1):c.702G>A (p.Glu234=)	27247	NFU1	Conflicting interpretations of pathogenicity	rs561482249	RCV000357371;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69627514	69627514	NC_000002.11:g.69627514C>T	ClinGen:CA1694097	C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.4(NFU1):c.699G>A (p.Pro233=)	27247	NFU1	Benign/Likely benign	-1	RCV001609526\|RCV002539560;	N	MedGen:CN517202\|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69627517	69627517	69627517	-
NM_001002755.4(NFU1):c.698C>T (p.Pro233Leu)	27247	NFU1	Uncertain significance	rs777602937	RCV001327683;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69627518	69627518	69627518	-
NM_001002755.4(NFU1):c.697C>A (p.Pro233Thr)	27247	NFU1	Uncertain significance	-1	RCV002646334;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69627519	69627519	NC_000002.11:g.69627519G>T	-
NM_001002755.4(NFU1):c.676A>G (p.Asn226Asp)	27247	NFU1	Conflicting interpretations of pathogenicity	rs377381866	RCV000479200\|RCV001217924;	N	MedGen:CN517202\|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69627540	69627540	2:g.69627540T>C	ClinGen:CA1694103	CN517202 not provided;
NM_001002755.4(NFU1):c.636C>G (p.Ser212Arg)	27247	NFU1	Uncertain significance	-1	RCV002027205;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69627580	69627580	69627580	-
NM_001002755.4(NFU1):c.629G>T (p.Cys210Phe)	27247	NFU1	Conflicting interpretations of pathogenicity	rs201634470	RCV000262464\|RCV001549765;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869\|MedGen:CN517202	2	69627587	69627587	NC_000002.11:g.69627587C>A	ClinGen:CA1694108	C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys)	27247	NFU1	Pathogenic	rs374514431	RCV000023678\|RCV000385109;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869\|MedGen:CN517202	2	69627594	69627594	2:g.69627594C>A	ClinGen:CA129406,UniProtKB:Q9UMS0#VAR_066639,OMIM:608100.0002	C3276432 605711 Multiple mitochondrial dysfunctions syndrome 1;
NM_001002755.4(NFU1):c.565G>A (p.Gly189Arg)	27247	NFU1	Likely pathogenic	-1	RCV001706832;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69627651	69627651	69627651	-
NM_001002755.4(NFU1):c.546G>A (p.Arg182_Pro183=)	27247	NFU1	Uncertain significance	-1	RCV002755248;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69627670	69627670	NC_000002.11:g.69627670C>T	-
NM_001002755.4(NFU1):c.546-16T>C	27247	NFU1	Likely benign	rs750424685	RCV000826304\|RCV002067428;	N	MedGen:CN517202\|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69627686	69627686	2:g.69627686A>G	-
NM_001002755.4(NFU1):c.546-16T>G	27247	NFU1	Likely benign	-1	RCV001958348;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69627686	69627686	69627686	-
NM_001002755.4(NFU1):c.545+9T>C	27247	NFU1	Likely benign	rs767405381	RCV000649048\|RCV000827394;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869\|MedGen:CN517202	2	69633145	69633145	NC_000002.11:g.69633145A>G	ClinGen:CA1694139	C3276432 605711 Multiple mitochondrial dysfunctions syndrome 1;
NM_001002755.4(NFU1):c.545+7G>T	27247	NFU1	Likely benign	rs750179976	RCV002544592;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69633147	69633147	2:g.69633147C>A	-
NM_001002755.4(NFU1):c.545+5G>A	27247	NFU1	Pathogenic	rs756085990	RCV000578252\|RCV002298691;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869\|MedGen:CN517202	2	69633149	69633149	2:g.69633149C>T	ClinGen:CA1694141	C3276432 605711 Multiple mitochondrial dysfunctions syndrome 1;
NM_001002755.4(NFU1):c.545+4C>T	27247	NFU1	Uncertain significance	-1	RCV002016555;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69633150	69633150	69633150	-
NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln)	27247	NFU1	Likely pathogenic	rs1281276965	RCV001333595;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69633154	69633154	69633154	OMIM:608100.0001
NM_001002755.4(NFU1):c.545G>T (p.Arg182Leu)	27247	NFU1	Uncertain significance	-1	RCV001706833;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69633154	69633154	69633154	-
NM_001002755.4(NFU1):c.544C>T (p.Arg182Trp)	27247	NFU1	Pathogenic	rs1354126704	RCV000578338;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69633155	69633155	2:g.69633155G>A	ClinGen:CA347123810	C3276432 605711 Multiple mitochondrial dysfunctions syndrome 1;
NM_001002755.4(NFU1):c.528G>A (p.Leu176=)	27247	NFU1	Likely benign	-1	RCV001548596\|RCV002072022;	N	MedGen:CN517202\|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69633171	69633171	69633171	-
NM_001002755.4(NFU1):c.526T>C (p.Leu176_Leu177=)	27247	NFU1	Likely benign	-1	RCV002630023;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69633173	69633173	NC_000002.11:g.69633173A>G	-
NM_001002755.4(NFU1):c.498TGA[1] (p.Asp167del)	27247	NFU1	Uncertain significance	-1	RCV003049705;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69633196	69633198	NC_000002.11:g.69633198ATC[1]	-
NM_001002755.4(NFU1):c.497A>G (p.Asp166Gly)	27247	NFU1	Uncertain significance	-1	RCV002279078\|RCV003096304;	N	MedGen:CN517202\|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69633202	69633202	69633202	-
NM_001002755.4(NFU1):c.495A>T (p.Glu165Asp)	27247	NFU1	Uncertain significance	rs886056266	RCV000303644;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69633204	69633204	NC_000002.11:g.69633204T>A	ClinGen:CA10615791	C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.4(NFU1):c.485-1G>C	27247	NFU1	Likely pathogenic	rs1464338870	RCV000991363;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69633215	69633215	2:g.69633215C>G	-
NM_001002755.4(NFU1):c.485-8_485-5del	27247	NFU1	Likely benign	-1	RCV002107861;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69633219	69633222	69633218	-
NM_001002755.4(NFU1):c.485-20T>A	27247	NFU1	Likely benign	-1	RCV002958331;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69633234	69633234	NC_000002.11:g.69633234A>T	-
NM_001002755.4(NFU1):c.430T>G (p.Phe144Val)	27247	NFU1	Uncertain significance	-1	RCV002805625;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69642371	69642371	NC_000002.11:g.69642371A>C	-
NM_001002755.4(NFU1):c.420A>T (p.Thr140=)	27247	NFU1	Benign/Likely benign	rs768949114	RCV001720077\|RCV002062379;	N	MedGen:CN517202\|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69642381	69642381	2:g.69642381T>A	ClinGen:CA1694182	CN169374 not specified;
NM_001002755.4(NFU1):c.411T>C (p.Ile137=)	27247	NFU1	Benign	rs12474866	RCV000127197\|RCV000543612;	N	MedGen:CN169374\|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69642390	69642390	2:g.69642390A>G	ClinGen:CA292531	C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.4(NFU1):c.373A>G (p.Asn125Asp)	27247	NFU1	Uncertain significance	-1	RCV001362075;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69642428	69642428	69642428	-
NM_001002755.4(NFU1):c.371A>G (p.Glu124Gly)	27247	NFU1	Uncertain significance	-1	RCV001925949;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69642430	69642430	69642430	-
NM_001002755.4(NFU1):c.370-4A>G	27247	NFU1	Likely benign	-1	RCV002178353;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69642435	69642435	69642435	-
NM_001002755.4(NFU1):c.370-4A>T	27247	NFU1	Likely benign	-1	RCV002195711;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69642435	69642435	69642435	-
NM_001002755.4(NFU1):c.370-7T>C	27247	NFU1	Likely benign	-1	RCV003073901;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69642438	69642438	NC_000002.11:g.69642438A>G	-
NM_001002755.4(NFU1):c.369+4A>C	27247	NFU1	Uncertain significance	-1	RCV001982451;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69646666	69646666	69646666	-
NM_001002755.4(NFU1):c.359C>A (p.Thr120Asn)	27247	NFU1	Uncertain significance	-1	RCV002597168;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69646680	69646680	NC_000002.11:g.69646680G>T	-
NM_001002755.4(NFU1):c.332G>T (p.Ser111Ile)	27247	NFU1	Uncertain significance	rs756434076	RCV001139263;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69646707	69646707	2:g.69646707C>A	-
NM_001002755.4(NFU1):c.324A>C (p.Gly108_Val109=)	27247	NFU1	Likely benign	-1	RCV003082626;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69646715	69646715	NC_000002.11:g.69646715T>G	-
NM_001002755.4(NFU1):c.303-2A>T	27247	NFU1	Likely pathogenic	rs371546359	RCV000198803\|RCV002517248;	N	MedGen:CN517202\|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69646738	69646738	NC_000002.11:g.69646738T>A	ClinGen:CA323331	CN517202 not provided;
NM_001002755.4(NFU1):c.303-4G>A	27247	NFU1	Likely benign	-1	RCV003048542;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69646740	69646740	NC_000002.11:g.69646740C>T	-
NM_001002755.4(NFU1):c.303-18T>G	27247	NFU1	Uncertain significance	-1	RCV003061281;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69646754	69646754	NC_000002.11:g.69646754A>C	-
NM_001002755.4(NFU1):c.303-19A>G	27247	NFU1	Likely benign	rs141033711	RCV000613549\|RCV001451631;	N	MedGen:CN169374\|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69646755	69646755	2:g.69646755T>C	ClinGen:CA1694225	CN169374 not specified;
NM_001002755.4(NFU1):c.303-19A>T	27247	NFU1	Likely benign	-1	RCV003005831;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69646755	69646755	NC_000002.11:g.69646755T>A	-
NM_001002755.4(NFU1):c.302+15dup	27247	NFU1	Benign	-1	RCV003100253;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69650698	69650699	NC_000002.11:g.69650702dup	-
NM_001002755.4(NFU1):c.302+3A>G	27247	NFU1	Conflicting interpretations of pathogenicity	-1	RCV002300923\|RCV003101709;	N	MedGen:CN517202\|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69650711	69650711	69650711	-
NM_001002755.4(NFU1):c.300T>C (p.Ala100=)	27247	NFU1	Likely benign	-1	RCV001401161;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69650716	69650716	69650716	-
NM_001002755.4(NFU1):c.299C>G (p.Ala100Gly)	27247	NFU1	Uncertain significance	rs139171264	RCV000323454;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69650717	69650717	NC_000002.11:g.69650717G>C	ClinGen:CA1694242	C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.4(NFU1):c.290C>G (p.Ser97Cys)	27247	NFU1	Uncertain significance	-1	RCV002303463;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69650726	69650726	69650726	-
NM_001002755.4(NFU1):c.287G>A (p.Arg96His)	27247	NFU1	Uncertain significance	-1	RCV002273401\|RCV003120870;	N	MedGen:CN517202\|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69650729	69650729	69650729	-
NM_001002755.4(NFU1):c.286C>T (p.Arg96Cys)	27247	NFU1	Benign	rs74637005	RCV000127196\|RCV000364040\|RCV000676266;	N	MedGen:CN169374\|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869\|MedGen:CN517202	2	69650730	69650730	2:g.69650730G>A	ClinGen:CA292529	C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.4(NFU1):c.283T>C (p.Phe95Leu)	27247	NFU1	Uncertain significance	-1	RCV003089660;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69650733	69650733	NC_000002.11:g.69650733A>G	-
NM_001002755.4(NFU1):c.240T>A (p.Val80_Leu81=)	27247	NFU1	Likely benign	-1	RCV002755458;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69650776	69650776	NC_000002.11:g.69650776A>T	-
NM_001002755.4(NFU1):c.199C>G (p.Pro67Ala)	27247	NFU1	Uncertain significance	-1	RCV002611598;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69650817	69650817	NC_000002.11:g.69650817G>C	-
NM_001002755.4(NFU1):c.167-13T>G	27247	NFU1	Conflicting interpretations of pathogenicity	rs181762580	RCV000269254\|RCV001566867;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869\|MedGen:CN517202	2	69650862	69650862	NC_000002.11:g.69650862A>C	ClinGen:CA1694266	C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.4(NFU1):c.166+8T>A	27247	NFU1	Conflicting interpretations of pathogenicity	rs199927640	RCV000907036;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69659026	69659026	NC_000002.11:g.69659026A>T	ClinGen:CA1694289	C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.4(NFU1):c.166+3A>G	27247	NFU1	Uncertain significance	-1	RCV002816692;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69659031	69659031	NC_000002.11:g.69659031T>C	-
NM_001002755.4(NFU1):c.154T>G (p.Phe52Val)	27247	NFU1	Uncertain significance	-1	RCV002043189\|RCV002548173;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869\|MeSH:D030342,MedGen:C0950123	2	69659046	69659046	69659046	-
NM_001002755.4(NFU1):c.151G>T (p.Ala51Ser)	27247	NFU1	Benign	rs76646410	RCV000196268\|RCV000649049;	N	MedGen:CN169374\|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69659049	69659049	NC_000002.11:g.69659049C>A	ClinGen:CA320689	C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.4(NFU1):c.145C>A (p.Pro49Thr)	27247	NFU1	Uncertain significance	rs113707482	RCV001216752;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69659055	69659055	2:g.69659055G>T	-
NM_001002755.4(NFU1):c.107C>T (p.Pro36Leu)	27247	NFU1	Uncertain significance	-1	RCV002611435;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69659093	69659093	NC_000002.11:g.69659093G>A	-
NM_001002755.4(NFU1):c.86C>T (p.Pro29Leu)	27247	NFU1	Uncertain significance	-1	RCV002819515;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69659114	69659114	NC_000002.11:g.69659114G>A	-
NM_001002755.4(NFU1):c.84T>A (p.Asn28Lys)	27247	NFU1	Uncertain significance	rs1673654615	RCV001141884;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69659116	69659116	2:g.69659116A>T	-
NM_001002755.4(NFU1):c.74T>A (p.Met25Lys)	27247	NFU1	Benign	rs4453725	RCV000127198\|RCV000294034\|RCV000676267;	N	MedGen:CN169374\|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869\|MedGen:CN517202	2	69659126	69659126	2:g.69659126A>T	ClinGen:CA292533,UniProtKB:Q9UMS0#VAR_044429	C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.4(NFU1):c.69T>C (p.Cys23=)	27247	NFU1	Likely benign	-1	RCV002218983;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69659131	69659131	69659131	-
NM_001002755.4(NFU1):c.63-4G>A	27247	NFU1	Likely benign	-1	RCV003053567;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69659141	69659141	NC_000002.11:g.69659141C>T	-
NM_001002755.4(NFU1):c.62+14C>T	27247	NFU1	Likely benign	rs370979719	RCV000438156\|RCV002062598;	N	MedGen:CN169374\|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664479	69664479	2:g.69664479G>A	ClinGen:CA1694316	CN169374 not specified;
NM_001002755.4(NFU1):c.62+14C>G	27247	NFU1	Likely benign	-1	RCV002167073;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664479	69664479	69664479	-
NM_001002755.4(NFU1):c.62+12G>A	27247	NFU1	Likely benign	-1	RCV002650265;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664481	69664481	NC_000002.11:g.69664481C>T	-
NM_001002755.4(NFU1):c.62+10G>A	27247	NFU1	Conflicting interpretations of pathogenicity	rs773351968	RCV000915915;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664483	69664483	NC_000002.11:g.69664483C>T	ClinGen:CA1694319	C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.4(NFU1):c.62+9C>T	27247	NFU1	Benign	rs114846829	RCV000127200\|RCV000676268\|RCV001085565;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664484	69664484	2:g.69664484G>A	ClinGen:CA292536	C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.4(NFU1):c.39T>G (p.Ala13_Val14=)	27247	NFU1	Likely benign	-1	RCV003039439;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664516	69664516	NC_000002.11:g.69664516A>C	-
NM_001002755.4(NFU1):c.20G>T (p.Arg7Leu)	27247	NFU1	Conflicting interpretations of pathogenicity	-1	RCV001919067\|RCV002556329;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869\|MeSH:D030342,MedGen:C0950123	2	69664535	69664535	69664535	-
NM_001002755.4(NFU1):c.19C>A (p.Arg7_Gly8=)	27247	NFU1	Likely benign	-1	RCV002889280;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664536	69664536	NC_000002.11:g.69664536G>T	-
NM_001002755.4(NFU1):c.17G>A (p.Arg6Lys)	27247	NFU1	Uncertain significance	-1	RCV001837635\|RCV002545214;	N	MedGen:CN517202\|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664538	69664538	69664538	-
NM_001002755.4(NFU1):c.12G>A (p.Thr4=)	27247	NFU1	Uncertain significance	rs767315359	RCV001141885;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664543	69664543	2:g.69664543C>T	-
NM_001002755.4(NFU1):c.8C>G (p.Ala3Gly)	27247	NFU1	Uncertain significance	-1	RCV002031105;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664547	69664547	69664547	-
NM_001002755.4(NFU1):c.4G>A (p.Ala2Thr)	27247	NFU1	Uncertain significance	-1	RCV002610358;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664551	69664551	NC_000002.11:g.69664551C>T	-
NM_001002755.4(NFU1):c.-1G>A	27247	NFU1	Uncertain significance	rs886056267	RCV000279512;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664555	69664555	NC_000002.11:g.69664555C>T	ClinGen:CA10614314	C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.4(NFU1):c.-6A>G	27247	NFU1	Benign	rs116604978	RCV000127199\|RCV000676269\|RCV001143677;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664560	69664560	2:g.69664560T>C	ClinGen:CA292535	CN517202 not provided;
NM_001002755.4(NFU1):c.-7G>A	27247	NFU1	Uncertain significance	rs1208588409	RCV001143678;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664561	69664561	2:g.69664561C>T	-
NM_001002755.2(NFU1):c.-41C>T	27247	NFU1	Uncertain significance	rs775615702	RCV001143679;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664595	69664595	2:g.69664595G>A	-
NM_001002755.2(NFU1):c.-48G>A	27247	NFU1	Uncertain significance	rs886056268	RCV000334612;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664602	69664602	NC_000002.11:g.69664602C>T	ClinGen:CA10613872	C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.2(NFU1):c.-66C>T	27247	NFU1	Uncertain significance	rs753424678	RCV000404073;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664620	69664620	NC_000002.11:g.69664620G>A	ClinGen:CA1694365	C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.2(NFU1):c.-119G>A	27247	NFU1	Conflicting interpretations of pathogenicity	rs372505661	RCV000280831\|RCV001582983;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869\|MedGen:CN517202	2	69664673	69664673	NC_000002.11:g.69664673C>T	ClinGen:CA1694377	C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.2(NFU1):c.-134A>G	27247	NFU1	Uncertain significance	rs768859205	RCV001143680;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664688	69664688	2:g.69664688T>C	-
NM_001002755.2(NFU1):c.-166T>C	27247	NFU1	Benign	rs73934936	RCV000390550\|RCV001711954;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869\|MedGen:CN517202	2	69664720	69664720	2:g.69664720A>G	ClinGen:CA1694385	C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.2(NFU1):c.-175G>T	27247	NFU1	Uncertain significance	rs764708513	RCV000305063;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664729	69664729	NC_000002.11:g.69664729C>A	ClinGen:CA1694386	C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.2(NFU1):c.-179C>G	27247	NFU1	Uncertain significance	rs992843651	RCV001137128;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664733	69664733	2:g.69664733G>C	-
NM_001002755.2(NFU1):c.-197T>G	27247	NFU1	Uncertain significance	rs886056269	RCV000359842;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664751	69664751	NC_000002.11:g.69664751A>C	ClinGen:CA10615825	C3502075 Multiple mitochondrial dysfunctions syndrome;
NM_001002755.2(NFU1):c.-200G>A	27247	NFU1	Uncertain significance	rs531177766	RCV000394683;	N	MONDO:MONDO:0011582,MedGen:C3276432,OMIM:605711, Orphanet:401869	2	69664754	69664754	NC_000002.11:g.69664754C>T	ClinGen:CA1694389	C3502075 Multiple mitochondrial dysfunctions syndrome;