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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: Hepatic Encephalopathy (D006501)
Parent Node: Metabolism, Inborn Errors (D008661)
..Starting node ..Combined Oxidative Phosphorylation Deficiency 1 (C563797)
Child Nodes:
Sister Nodes:
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784) L: 00105;
..3-Hydroxyacyl-CoA Dehydrogenase Deficiency (C535310) L: 00467;
..3-Methylglutaconic Aciduria (C579867)
..3-Methylglutaconic Aciduria Type IV (C565393)
..3-Methylglutaconic Aciduria, Type I (C562801) L: 00495;
..3-Methylglutaconic Aciduria, Type V (C565706) L: 00079;
..5-Nucleotidase syndrome (C535321)
..6-Phosphogluconolactonase Deficiency (C566803)
..Acetylcarnitine deficiency (C536006)
..Acholinesterasemia (C566750)
..Acid Phosphatase Deficiency (C562645)
..Adenine phosphoribosyltransferase deficiency (C538228)
..alpha-Fetoprotein Deficiency (C566300)
..Amino Acid Metabolism, Inborn Errors (D000592) 169 C:10
..Amino Acid Transport Disorders, Inborn (D020157) 3
..Amobarbital, Deficient N-Hydroxylation of (C565959)
..Amyloidosis, Familial (D028226) 13
..Arene Oxide Detoxification Defect (C565043)
..Aromatase deficiency (C537436)
..Aryl Hydrocarbon Hydroxylase Inducibility (C566250)
..BISPHOSPHOGLYCERATE MUTASE DEFICIENCY (OMIM:222800)
..Brain Diseases, Metabolic, Inborn (D020739) 218 C:20
..Butyrylcholinesterase deficiency (C537417)
..Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type (C566751)
..Carbohydrate Metabolism, Inborn Errors (D002239) 169 C:9
..CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
..Carnitine Acetyltransferase Deficiency (C563249)
..Carnitine palmitoyl transferase 2 deficiency (C535589)
..Chromate Resistance (C566125)
..Combined Malonic and Methylmalonic Aciduria (C580002)
..Combined Oxidative Phosphorylation Deficiency 1 (C563797) L: 00092;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702) L: 00093;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922) L: 00423;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924) L: 00511;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932) L: 00512;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946) L: 00094;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947) L: 00095;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 (OMIM:615395) L: 00080;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440) L: 00513;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578) L: 00514;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595) L: 00500;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917) L: 00515;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918) L: 00501;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045) L: 00502;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198) L: 00516;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239) L: 00517;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430) L: 00503;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539) L: 00518;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 (OMIM:616672) L: 00519;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794) L: 00520;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811) L: 00504;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974) L: 00521;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228) L: 00522;
..Combined Oxidative Phosphorylation Deficiency 4 (C565690) L: 00098;
..Combined Oxidative Phosphorylation Deficiency 5 (C567126) L: 00099;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096) L: 00076;
..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582) L: 00100;
..Congenital chloride diarrhea (C536210)
..Copper deficiency, familial benign (C535468)
..Costeff optic atrophy syndrome (C535311) L: 00496;
..Coumarin Resistance (C563039)
..Coumarin Sensitivity (C567276)
..CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
..Cytochrome-c Oxidase Deficiency (D030401) 2 C:2 L: 00012;
..Deafness hyperuricemia neurologic ataxia (C535995)
..Deoxyribose-5-Phosphate Aldolase Deficiency (C565112)
..Diarrhea 3, Secretory Sodium, Congenital (C562576)
..Diarrhea 3, Secretory Sodium, Congenital, Syndromic (C567490)
..Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..Dihydropyrimidinase Deficiency (C562815)
..Diphenylhydantoin, Defect in Hydroxylation of (C565044)
..Drug Metabolism, Poor, CYP2C19-Related (C563703)
..Drug Metabolism, Poor, CYP2D6-Related (C563835) L: 00651;
..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..EFAVIRENZ, POOR METABOLISM OF (OMIM:614546)
..Enterokinase Deficiency (C562649)
..Ethanolaminosis (C562651)
..Familial gynecomastia, due to increased aromatase activity (C000591739)
..Finnish lethal neonatal metabolic syndrome (C537934) L: 00104;
..Fumaric aciduria (C538191)
..Glucocorticoid Receptor Deficiency (C564221)
..Glutamate formiminotransferase deficiency (C537425)
..Glycoprotein Storage Disease (C565538)
..Glyoxalase II Deficiency (C564215)
..Growth Factors, Combined Defect of (C565529)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
..Hyaluronan Metabolism, Defect in (C565742)
..Hyperbilirubinemia, Hereditary (D006933) 7
..Hypercalcemia, Idiopathic, of Infancy (C562581)
..HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
..Hypoadiponectinemia (C567258)
..Hypokalemia, Familial (C562654)
..Hypoproteinemia, Hypercatabolic (C565476)
..Inosine Triphosphatase Deficiency (C564127)
..Intrinsic Factor and R Binder, Combined Congenital Deficiency of (C565461)
..Kallikrein, Decreased Urinary Activity of (C563653)
..L-Gulonolactone Oxidase, Nonfunctional (C565486)
..Lactate Dehydrogenase B Deficiency (C563641)
..Lactic Aciduria due to D-Lactic Acid (C565446)
..LEPTIN DEFICIENCY OR DYSFUNCTION (OMIM:614962)
..LEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
..Leukotriene C4 Synthase Deficiency (C565439)
..Lipid Metabolism, Inborn Errors (D008052) 135 C:9
..LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
..LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016) L: 00474;
..Lysosomal Storage Diseases (D016464) 106
..Malonic aciduria (C535702)
..Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type (C563601)
..Mannose-Binding Protein Deficiency (C563602)
..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..Metal Metabolism, Inborn Errors (D008664) 55
..Methemoglobin Reductase Deficiency (C563171)
..Methylcobalamin Deficiency, CblG Type (C565394)
..Methylmalonyl-Coenzyme A mutase deficiency (C537573)
..Mitochondrial Complex II Deficiency (C565375) L: 00016;
..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
..MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY (OMIM:616095)
..Myeloperoxidase Deficiency (C562864)
..N acetyltransferase deficiency (C536107)
..Pancreatic Insufficiency, Combined Exocrine (C564907)
..Peroxisomal Disorders (D018901) 39
..Phenacetin O-Deethylase, Deficiency of (C565127)
..Phenol sulfotransferase deficiency (C537895)
..Phosphoglycerate Kinase 1 Deficiency (C567067)
..Progeria (D011371) 11
..Proguanil, Poor Metabolism of (C563704)
..Purine-Pyrimidine Metabolism, Inborn Errors (D011686) 24
..Renal Tubular Transport, Inborn Errors (D015499) 76 C:2
..Retinol-Binding Protein Deficiency (C566711)
..Steroid Metabolism, Inborn Errors (D043202) 34
..Stomatocytosis I (C566111)
..Stomatocytosis II (C566110)
..Succinic Acidemia (C563952)
..THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
..THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
..Transcobalamin I Deficiency (C562798)
..Trimethylaminuria (C536561)
..TRYPSINOGEN DEFICIENCY (OMIM:614044)
..Warfarin Sensitivity (C567080)
..Weinstein Kliman Scully syndrome (C536688)
..Wiedemann Oldigs Oppermann syndrome (C536705)
..Xanthinuria, Type I (C562584)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

2766

Name:

Combined Oxidative Phosphorylation Deficiency 1

Definition:

Alternative IDs:

OMIM:609060

ParentIDs:

MESH:D006501|MESH:D008661

TreeNumbers:

C06.552.308.500.356/C563797 |C10.228.140.163.360/C563797 |C16.320.565/C563797 |C18.452.132.360/C563797 |C18.452.648/C563797

Synonyms:

COXPD1 |Hepatoencephalopathy, Early Fatal Progressive

Slim Mappings:

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

Reference:

MedGen: C563797
MeSH: C563797
OMIM: 609060;
MSeqDR : 00092;
Genes: GFM1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0006799	Basal ganglia cysts
4	HP:0001396	Cholestasis
5	HP:0012448	Delayed myelination
6	HP:0011968	Feeding difficulties
7	HP:0004448	Fulminant hepatic failure
8	HP:0002283	Global brain atrophy
9	HP:0002240	Hepatomegaly
10	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
11	HP:0002375	Hypokinesia
12	HP:0002079	Hypoplasia of the corpus callosum
13	HP:0002490	Increased CSF lactate
14	HP:0002151	Increased serum lactate
15	HP:0001511	Intrauterine growth retardation
16	HP:0001942	Metabolic acidosis
17	HP:0000252	Microcephaly
18	HP:0001270	Motor delay
19	HP:0008936	Muscular hypotonia of the trunk
20	HP:0000639	Nystagmus
21	HP:0000817	Poor eye contact
22	HP:0001250	Seizures NAMDC: Seizures
23	HP:0001257	Spasticity NAMDC: Spasticity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_024996.7(GFM1):c.-85C>T	85476	GFM1	Uncertain significance	rs893145449	RCV001147126;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158362339	158362339	3:g.158362339C>T	-
NM_024996.7(GFM1):c.-73C>T	85476	GFM1	Likely benign	rs116614958	RCV000331237;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158362351	158362351	NC_000003.11:g.158362351C>T	ClinGen:CA10617804	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.-66C>G	85476	GFM1	Uncertain significance	rs564879457	RCV001147127;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158362358	158362358	3:g.158362358C>G	-
NM_024996.7(GFM1):c.-38C>T	85476	GFM1	Conflicting interpretations of pathogenicity	rs377352238	RCV000125229\|RCV000389427;	N	MedGen:CN169374\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158362386	158362386	3:g.158362386C>T	ClinGen:CA291068	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.-33C>T	85476	GFM1	Benign	rs28372852	RCV000295077\|RCV001672626;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158362391	158362391	NC_000003.11:g.158362391C>T	ClinGen:CA2682172	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.-31A>G	85476	GFM1	Benign	rs28372853	RCV000125230\|RCV000336135;	N	MedGen:CN169374\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158362393	158362393	3:g.158362393A>G	ClinGen:CA291069	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.-11C>T	85476	GFM1	Benign/Likely benign	rs112860155	RCV000125231\|RCV000396594;	N	MedGen:CN169374\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158362413	158362413	3:g.158362413C>T	ClinGen:CA291070	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.3G>A (p.Met1Ile)	85476	GFM1	Pathogenic	rs863224030	RCV000196656\|RCV001273487;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158362426	158362426	NC_000003.11:g.158362426G>A	ClinGen:CA321080	CN517202 not provided;
NM_024996.7(GFM1):c.18T>C (p.Ala6=)	85476	GFM1	Benign	rs1864507	RCV000282348\|RCV000676466\|RCV001795958;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202\|MedGen:CN169374	3	158362441	158362441	NC_000003.11:g.158362441T>C	ClinGen:CA2682184	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.54del (p.Ala19fs)	85476	GFM1	Pathogenic/Likely pathogenic	rs765266988	RCV000826110\|RCV002538243;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158362473	158362473	3:g.158362473_158362473del	-
NM_024996.7(GFM1):c.51C>T (p.Ala17=)	85476	GFM1	Likely benign	rs937454854	RCV000932460\|RCV001272457;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158362474	158362474	3:g.158362474C>T	-
NM_024996.7(GFM1):c.56C>T (p.Ala19Val)	85476	GFM1	Conflicting interpretations of pathogenicity	rs567086019	RCV000337390\|RCV000943185;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158362479	158362479	NC_000003.11:g.158362479C>T	ClinGen:CA2682193	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.77A>G (p.Lys26Arg)	85476	GFM1	Benign	rs574200635	RCV000195533\|RCV000398210\|RCV000915754;	N	MedGen:CN169374\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158362500	158362500	NC_000003.11:g.158362500A>G	ClinGen:CA319884	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.81+1G>A	85476	GFM1	Likely pathogenic	-1	RCV001378369\|RCV001831352;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158362505	158362505	158362505	-
NM_024996.7(GFM1):c.81+5C>T	85476	GFM1	Uncertain significance	rs886058119	RCV000301848;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158362509	158362509	NC_000003.11:g.158362509C>T	ClinGen:CA10617811	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.81+22A>G	85476	GFM1	Benign	-1	RCV001543940\|RCV001655851;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158362526	158362526	158362526	-
NM_024996.7(GFM1):c.81+84C>G	85476	GFM1	Benign	-1	RCV001543941\|RCV001713120;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158362588	158362588	158362588	-
NM_024996.7(GFM1):c.89_99del (p.Trp30fs)	85476	GFM1	Pathogenic/Likely pathogenic	-1	RCV001953530\|RCV003146413;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158363425	158363435	158363424	-
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)	85476	GFM1	Pathogenic/Likely pathogenic	rs766234016	RCV001002683\|RCV002549188;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158363436	158363436	3:g.158363436C>T	-
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp)	85476	GFM1	Benign/Likely benign	rs35942089	RCV000125223\|RCV000361226\|RCV000964843;	N	MedGen:CN169374\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158363463	158363463	3:g.158363463A>G	ClinGen:CA291058	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.139C>T (p.Arg47Ter)	85476	GFM1	Pathogenic	rs119470019	RCV000004378\|RCV001207728;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158363475	158363475	3:g.158363475C>T	ClinGen:CA210485,OMIM:606639.0002	C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_024996.7(GFM1):c.192A>G (p.Glu64=)	85476	GFM1	Likely benign	rs1576720639	RCV000960840\|RCV001832207;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158363528	158363528	3:g.158363528A>G	-
NM_024996.7(GFM1):c.193C>A (p.Arg65=)	85476	GFM1	Conflicting interpretations of pathogenicity	rs62286651	RCV000676467\|RCV001148014;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158363529	158363529	3:g.158363529C>A	-	CN517202 not provided;
NM_024996.7(GFM1):c.220G>T (p.Ala74Ser)	85476	GFM1	Likely benign	rs140377587	RCV000923394\|RCV001272458;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158363556	158363556	3:g.158363556G>T	-
NM_024996.7(GFM1):c.221C>G (p.Ala74Gly)	85476	GFM1	Uncertain significance	rs778603797	RCV001280043;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158363557	158363557	3:g.158363557C>G	-
NM_024996.7(GFM1):c.234+12C>T	85476	GFM1	Conflicting interpretations of pathogenicity	rs372189223	RCV000398325\|RCV002057851;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158363582	158363582	NC_000003.11:g.158363582C>T	ClinGen:CA2682258	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.235-14G>A	85476	GFM1	Conflicting interpretations of pathogenicity	rs201304690	RCV000198372\|RCV000307563\|RCV002054327;	N	MedGen:CN169374\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158363940	158363940	NC_000003.11:g.158363940G>A	ClinGen:CA322880	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.248A>T (p.Asp83Val)	85476	GFM1	Pathogenic	rs1576721522	RCV001002680;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158363967	158363967	3:g.158363967A>T	-
NM_024996.7(GFM1):c.273del (p.Met92fs)	85476	GFM1	Pathogenic/Likely pathogenic	rs863224033	RCV000200452\|RCV002500612;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158363991	158363991	NC_000003.11:g.158363992del	ClinGen:CA325026	CN517202 not provided;
NM_024996.7(GFM1):c.344A>G (p.Asn115Ser)	85476	GFM1	Conflicting interpretations of pathogenicity	-1	RCV001563841\|RCV002072149\|RCV002568428;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	3	158364063	158364063	158364063	-
NM_024996.7(GFM1):c.373G>A (p.Val125Met)	85476	GFM1	Conflicting interpretations of pathogenicity	rs200923387	RCV000362292\|RCV000942298;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158364537	158364537	NC_000003.11:g.158364537G>A	ClinGen:CA2682322	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.395A>C (p.Glu132Ala)	85476	GFM1	Likely pathogenic	rs1553847587	RCV000625929;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158364559	158364559	NC_000003.11:g.158364559A>C	ClinGen:CA355175789	C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_024996.7(GFM1):c.408A>T (p.Arg136Ser)	85476	GFM1	Uncertain significance	rs1721844379	RCV001329387;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158364572	158364572	158364572	-
NM_024996.7(GFM1):c.409G>A (p.Val137Met)	85476	GFM1	Pathogenic	-1	RCV001449659;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158364573	158364573	158364573	-
NM_024996.7(GFM1):c.424del (p.Val142fs)	85476	GFM1	Conflicting interpretations of pathogenicity	rs886058120	RCV000272222\|RCV000814936;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158364588	158364588	NC_000003.11:g.158364588del	ClinGen:CA10615638	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.443T>C (p.Val148Ala)	85476	GFM1	Uncertain significance	rs758591202	RCV001280044;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158364607	158364607	3:g.158364607T>C	-
NM_024996.7(GFM1):c.476A>G (p.Asn159Ser)	85476	GFM1	Benign	rs34297061	RCV000125225\|RCV000224568\|RCV000999807;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158364640	158364640	3:g.158364640A>G	ClinGen:CA291061	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.498C>T (p.Asn166=)	85476	GFM1	Likely benign	rs762364300	RCV000983429\|RCV001836054;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158364662	158364662	3:g.158364662C>T	-
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)	85476	GFM1	Likely pathogenic	rs119470018	RCV000004377\|RCV000657878;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158364685	158364685	3:g.158364685A>G	ClinGen:CA210484,UniProtKB:Q96RP9#VAR_021512,OMIM:606639.0001	C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_024996.7(GFM1):c.568A>C (p.Met190Leu)	85476	GFM1	Benign/Likely benign	rs75450876	RCV000125226\|RCV000224632\|RCV000368039;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158364732	158364732	3:g.158364732A>C	ClinGen:CA291063	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.573-1G>C	85476	GFM1	Conflicting interpretations of pathogenicity	-1	RCV001379654\|RCV001831371;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158366829	158366829	158366829	-
NM_024996.7(GFM1):c.596C>T (p.Ala199Val)	85476	GFM1	Uncertain significance	rs145247687	RCV001149555;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158366853	158366853	3:g.158366853C>T	-
NM_024996.7(GFM1):c.607A>G (p.Ile203Val)	85476	GFM1	Uncertain significance	rs1722079229	RCV001195913;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158366864	158366864	3:g.158366864A>G	-
NM_024996.7(GFM1):c.616G>T (p.Gly206Cys)	85476	GFM1	Uncertain significance	rs1722080493	RCV001280045;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158366873	158366873	3:g.158366873G>T	-
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys)	85476	GFM1	Conflicting interpretations of pathogenicity	rs191462023	RCV000198516\|RCV000764473;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158366879	158366879	3:g.158366879G>A	ClinGen:CA323024	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.643G>A (p.Val215Ile)	85476	GFM1	Benign	rs2303909	RCV000676468\|RCV000987347\|RCV001795959;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN169374	3	158366900	158366900	3:g.158366900G>A	ClinGen:CA2682376,UniProtKB:Q96RP9#VAR_028303	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.667A>G (p.Ile223Val)	85476	GFM1	Conflicting interpretations of pathogenicity	rs143446452	RCV000918367\|RCV001272459;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158366924	158366924	3:g.158366924A>G	-
NM_024996.7(GFM1):c.689+891C>T	85476	GFM1	Benign	-1	RCV001543942\|RCV001694070;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158367837	158367837	158367837	-
NM_024996.7(GFM1):c.690-87A>G	85476	GFM1	Benign	-1	RCV001543943\|RCV001647392;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158369798	158369798	158369798	-
NM_024996.7(GFM1):c.690-5C>G	85476	GFM1	Conflicting interpretations of pathogenicity	rs201685981	RCV000197431\|RCV000415998\|RCV001001208;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158369880	158369880	3:g.158369880C>G	ClinGen:CA321899	CN517202 not provided;
NM_024996.7(GFM1):c.690_693del	85476	GFM1	Pathogenic/Likely pathogenic	-1	RCV001932580\|RCV002506920;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158369883	158369886	158369882	-
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter)	85476	GFM1	Pathogenic	rs863224032	RCV000198570\|RCV000995549;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158369895	158369895	3:g.158369895C>T	ClinGen:CA323089	CN517202 not provided;
NM_024996.7(GFM1):c.701G>A (p.Arg234Gln)	85476	GFM1	Uncertain significance	rs1202361363	RCV001145270;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158369896	158369896	3:g.158369896G>A	-
NM_024996.7(GFM1):c.702A>G (p.Arg234=)	85476	GFM1	Uncertain significance	rs377418512	RCV000388686;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158369897	158369897	NC_000003.11:g.158369897A>G	ClinGen:CA2682405	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.720del (p.Glu241fs)	85476	GFM1	Pathogenic	rs745718158	RCV000809691\|RCV001273488;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158369915	158369915	3:g.158369915_158369915del	-
NM_024996.7(GFM1):c.748del (p.Arg250fs)	85476	GFM1	Likely pathogenic	-1	RCV001580712;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158369942	158369942	158369941	-
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)	85476	GFM1	Pathogenic	rs139430866	RCV000800330\|RCV000851197\|RCV000023564;	N	MedGen:CN517202\|MONDO:MONDO:0000732,MedGen:C4540031,OMIM:PS609060\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158369943	158369943	3:g.158369943C>T	ClinGen:CA210569,UniProtKB:Q96RP9#VAR_076198,OMIM:606639.0004	C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg)	85476	GFM1	Benign/Likely benign	rs115984741	RCV000886511\|RCV001272460;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158369983	158369983	3:g.158369983A>G	-
NM_024996.7(GFM1):c.825G>A (p.Ser275=)	85476	GFM1	Uncertain significance	rs1722357550	RCV001280046;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158370020	158370020	3:g.158370020G>A	-
NM_024996.7(GFM1):c.829dup (p.Ser277fs)	85476	GFM1	Conflicting interpretations of pathogenicity	rs771865940	RCV000416186\|RCV000779394;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158370021	158370022	NC_000003.11:g.158370024dup	ClinGen:CA2682429
NM_024996.7(GFM1):c.830C>T (p.Ser277Phe)	85476	GFM1	Uncertain significance	-1	RCV003131016;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158370025	158370025	NC_000003.11:g.158370025C>T	-
NM_024996.7(GFM1):c.881C>T (p.Pro294Leu)	85476	GFM1	Uncertain significance	rs1722451256	RCV001199013;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158371139	158371139	3:g.158371139C>T	-
NM_024996.7(GFM1):c.897C>T (p.Ser299=)	85476	GFM1	Conflicting interpretations of pathogenicity	rs763546447	RCV000280136\|RCV001453939;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158371155	158371155	NC_000003.11:g.158371155C>T	ClinGen:CA2682451	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.952C>T (p.Pro318Ser)	85476	GFM1	Likely pathogenic	rs1722463582	RCV001089485;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158371210	158371210	3:g.158371210C>T	-
NM_024996.7(GFM1):c.958C>G (p.Pro320Ala)	85476	GFM1	Pathogenic	rs781397040	RCV001002678;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158371216	158371216	3:g.158371216C>G	ClinVar:812088
NM_024996.7(GFM1):c.960A>C (p.Pro320=)	85476	GFM1	Benign/Likely benign	rs145970222	RCV000195750\|RCV000316489\|RCV000910628;	N	MedGen:CN169374\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158371218	158371218	NC_000003.11:g.158371218A>C	ClinGen:CA320120	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.987C>A (p.Leu329=)	85476	GFM1	Conflicting interpretations of pathogenicity	rs531887279	RCV000376033\|RCV000933080;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158371245	158371245	NC_000003.11:g.158371245C>A	ClinGen:CA2682465	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.997_998+2del	85476	GFM1	Likely pathogenic	rs763084523	RCV001209160\|RCV001833837;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158371255	158371258	3:g.158371255_158371258del	-
NM_024996.7(GFM1):c.999-1G>A	85476	GFM1	Likely pathogenic	-1	RCV001377804\|RCV001836383;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158372335	158372335	158372335	-
NM_024996.7(GFM1):c.1032C>T (p.Asn344=)	85476	GFM1	Conflicting interpretations of pathogenicity	rs373952002	RCV000281525\|RCV000429176\|RCV000952513;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN169374\|MedGen:CN517202	3	158372369	158372369	NC_000003.11:g.158372369C>T	ClinGen:CA2682491	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1083+3A>G	85476	GFM1	Conflicting interpretations of pathogenicity	rs187690169	RCV000341073\|RCV001636960\|RCV002523249;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	3	158372423	158372423	3:g.158372423A>G	ClinGen:CA2682500	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1083+6T>G	85476	GFM1	Benign	rs142919829	RCV000125222\|RCV000390538\|RCV000676469;	N	MedGen:CN169374\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158372426	158372426	3:g.158372426T>G	ClinGen:CA291057	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1083+8G>T	85476	GFM1	Likely benign	rs753905803	RCV000944842\|RCV001272461;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158372428	158372428	3:g.158372428G>T	-
NM_024996.7(GFM1):c.1083+57C>T	85476	GFM1	Benign	-1	RCV001543944\|RCV001638146;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158372477	158372477	158372477	-
NM_024996.7(GFM1):c.1083+82T>C	85476	GFM1	Benign	-1	RCV001543945\|RCV001713121;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158372502	158372502	158372502	-
NM_024996.7(GFM1):c.1102T>C (p.Leu368=)	85476	GFM1	Likely benign	rs142843314	RCV000891379\|RCV001272462;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158376729	158376729	3:g.158376729T>C	-
NM_024996.7(GFM1):c.1118G>A (p.Ser373Asn)	85476	GFM1	Uncertain significance	rs1023544297	RCV001147219;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158376745	158376745	3:g.158376745G>A	-
NM_024996.7(GFM1):c.1149_1160del (p.Ile384_Thr387del)	85476	GFM1	Pathogenic	rs1576745248	RCV001002681;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158376772	158376783	3:g.158376772_158376783del	-
NM_024996.7(GFM1):c.1180C>T (p.Arg394Trp)	85476	GFM1	Uncertain significance	rs183140307	RCV001241465\|RCV001836211;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158376807	158376807	3:g.158376807C>T	-
NM_024996.7(GFM1):c.1198C>T (p.Arg400Cys)	85476	GFM1	Uncertain significance	rs374335959	RCV001280047\|RCV002542941;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158376825	158376825	3:g.158376825C>T	-
NM_024996.7(GFM1):c.1209C>T (p.Ala403=)	85476	GFM1	Benign	rs149949638	RCV000197193\|RCV000946773\|RCV001147220;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158376836	158376836	3:g.158376836C>T	ClinGen:CA321638	CN169374 not specified;
NM_024996.7(GFM1):c.1209C>A (p.Ala403_Asp404=)	85476	GFM1	Uncertain significance	-1	RCV003135362;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158376836	158376836	NC_000003.11:g.158376836C>A	-
NM_024996.7(GFM1):c.1221+20G>A	85476	GFM1	Uncertain significance	rs1412836196	RCV001329385;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158376868	158376868	158376868	-
NM_024996.7(GFM1):c.1256C>T (p.Ala419Val)	85476	GFM1	Uncertain significance	-1	RCV001558686\|RCV001832761\|RCV002568379;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MeSH:D030342,MedGen:C0950123	3	158378697	158378697	158378697	-
NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs)	85476	GFM1	Pathogenic	rs866604517	RCV001002676\|RCV001384808;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158378735	158378738	3:g.158378735_158378738del	-
NM_024996.7(GFM1):c.1305C>G (p.Ala435=)	85476	GFM1	Conflicting interpretations of pathogenicity	rs141368418	RCV000941272\|RCV001147221;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158378746	158378746	3:g.158378746C>G	-
NM_024996.7(GFM1):c.1308C>T (p.Asn436=)	85476	GFM1	Likely benign	rs1187874654	RCV000917135\|RCV001272463;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158378749	158378749	3:g.158378749C>T	-
NM_024996.7(GFM1):c.1323+72A>G	85476	GFM1	Benign	-1	RCV001543946\|RCV001619959;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158378836	158378836	158378836	-
NM_024996.7(GFM1):c.1323+83A>G	85476	GFM1	Benign	rs2291595	RCV000830746\|RCV001543947;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158378847	158378847	3:g.158378847A>G	-
NM_024996.7(GFM1):c.1324-15T>A	85476	GFM1	Conflicting interpretations of pathogenicity	rs375168014	RCV000286924\|RCV000424127\|RCV002057852;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN169374\|MedGen:CN517202	3	158380402	158380402	3:g.158380402T>A	ClinGen:CA2682612	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter)	85476	GFM1	Pathogenic	rs757691557	RCV001329386;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158380417	158380417	158380417	-
NM_024996.7(GFM1):c.1343A>G (p.Asp448Gly)	85476	GFM1	Likely benign	rs146951325	RCV000341858\|RCV000911472;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158380436	158380436	3:g.158380436A>G	ClinGen:CA2682618	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1368G>A (p.Lys456=)	85476	GFM1	Likely benign	rs774280744	RCV000904804\|RCV001272464;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158380461	158380461	3:g.158380461G>A	-
NM_024996.7(GFM1):c.1383C>T (p.Asn461=)	85476	GFM1	Conflicting interpretations of pathogenicity	-1	RCV001480040\|RCV001563842;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158383128	158383128	158383128	-
NM_024996.7(GFM1):c.1384G>T (p.Asp462Tyr)	85476	GFM1	Uncertain significance	rs200244667	RCV000395721\|RCV001526738;	N	MONDO:MONDO:0000732,MedGen:C4540031,OMIM:PS609060\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158383129	158383129	3:g.158383129G>T	ClinGen:CA2682647	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1385A>G (p.Asp462Gly)	85476	GFM1	Uncertain significance	rs886058121	RCV000306955;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158383130	158383130	3:g.158383130A>G	ClinGen:CA10617841	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1404del (p.Gly469fs)	85476	GFM1	Pathogenic	rs779877297	RCV001002677\|RCV001869432;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158383146	158383146	3:g.158383146_158383146del	-
NM_024996.7(GFM1):c.1406G>A (p.Gly469Asp)	85476	GFM1	Uncertain significance	rs750855220	RCV000366352\|RCV002520101;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158383151	158383151	3:g.158383151G>A	ClinGen:CA2682652	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1429G>T (p.Asp477Tyr)	85476	GFM1	Uncertain significance	rs138058648	RCV000757328\|RCV001825499;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158383174	158383174	NC_000003.11:g.158383174G>T	-
NM_024996.7(GFM1):c.1487T>G (p.Met496Arg)	85476	GFM1	Pathogenic	rs119470020	RCV000004379;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158383232	158383232	3:g.158383232T>G	OMIM:606639.0003,ClinGen:CA210487,UniProtKB:Q96RP9#VAR_031901	C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_024996.7(GFM1):c.1494A>G (p.Glu498=)	85476	GFM1	Conflicting interpretations of pathogenicity	rs149454742	RCV000897890\|RCV001148119;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158383239	158383239	3:g.158383239A>G	ClinGen:CA2682670	CN169374 not specified;
NM_024996.7(GFM1):c.1510del (p.Tyr504fs)	85476	GFM1	Pathogenic	-1	RCV001783359;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158383255	158383255	158383254	-
NM_024996.7(GFM1):c.1518+1G>A	85476	GFM1	Uncertain significance	rs1560135491	RCV000779395;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158383264	158383264	NC_000003.11:g.158383264G>A	-
NM_024996.7(GFM1):c.1519-25A>G	85476	GFM1	Benign	-1	RCV001543948\|RCV001655852;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158384068	158384068	158384068	-
NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg)	85476	GFM1	Pathogenic	rs1576757241	RCV001002682;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158384120	158384120	3:g.158384120T>C	-
NM_024996.7(GFM1):c.1571C>T (p.Ala524Val)	85476	GFM1	Pathogenic	rs143031224	RCV001002684;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158384145	158384145	3:g.158384145C>T	-
NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter)	85476	GFM1	Pathogenic	-1	RCV001381644\|RCV001831380;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158384150	158384150	158384150	-
NM_024996.7(GFM1):c.1593C>T (p.Ala531=)	85476	GFM1	Benign/Likely benign	rs114754676	RCV000197206\|RCV000883125\|RCV001148120;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158384167	158384167	3:g.158384167C>T	ClinGen:CA321648	CN169374 not specified;
NM_024996.7(GFM1):c.1601+9G>C	85476	GFM1	Benign	rs77186707	RCV000125224\|RCV000400146\|RCV000676470;	N	MedGen:CN169374\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158384184	158384184	3:g.158384184G>C	ClinGen:CA291060	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1765-2_1765-1del	85476	GFM1	Pathogenic	rs1245712932	RCV001223407\|RCV001833935;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158402311	158402312	3:g.158402311_158402312del	-
NM_024996.7(GFM1):c.1781G>A (p.Cys594Tyr)	85476	GFM1	Uncertain significance	rs1576790457	RCV000987348;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158402329	158402329	3:g.158402329G>A	-
NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp)	85476	GFM1	Conflicting interpretations of pathogenicity	rs762576741	RCV000987349\|RCV002550600;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158402370	158402370	3:g.158402370C>T	-
NM_024996.7(GFM1):c.1823G>A (p.Arg608Gln)	85476	GFM1	Uncertain significance	-1	RCV001449604\|RCV001865913;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158402371	158402371	158402371	-
NM_024996.7(GFM1):c.1830C>T (p.Val610=)	85476	GFM1	Likely benign	rs139680551	RCV000980112\|RCV001832275;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158402378	158402378	3:g.158402378C>T	-
NM_024996.7(GFM1):c.1831C>T (p.Leu611=)	85476	GFM1	Conflicting interpretations of pathogenicity	rs190393538	RCV000312996\|RCV001521349;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158402379	158402379	3:g.158402379C>T	ClinGen:CA2683004	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1852A>G (p.Met618Val)	85476	GFM1	Uncertain significance	rs767798328	RCV001148121;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158402400	158402400	3:g.158402400A>G	-
NM_024996.7(GFM1):c.1897G>C (p.Ala633Pro)	85476	GFM1	Uncertain significance	-1	RCV002465084;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158402445	158402445	NC_000003.11:g.158402445G>C	-
NM_024996.7(GFM1):c.1910-2A>T	85476	GFM1	Likely pathogenic	-1	RCV001377756\|RCV001826130;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158407950	158407950	158407950	-
NM_024996.7(GFM1):c.1910-1G>A	85476	GFM1	Uncertain significance	rs1462851267	RCV000779396;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158407951	158407951	NC_000003.11:g.158407951G>A	-
NM_024996.7(GFM1):c.1922C>A (p.Ala641Glu)	85476	GFM1	Pathogenic	rs1390685552	RCV001002679;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158407964	158407964	3:g.158407964C>A	ClinVar:812089
NM_024996.7(GFM1):c.1948A>G (p.Met650Val)	85476	GFM1	Uncertain significance	rs147847472	RCV001148122\|RCV002559421\|RCV002557175;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	3	158407990	158407990	3:g.158407990A>G	-
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile)	85476	GFM1	Benign/Likely benign	rs62288347	RCV000125227\|RCV000676471\|RCV000999813;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158408032	158408032	3:g.158408032G>A	ClinGen:CA291065	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)	85476	GFM1	Pathogenic	rs201408725	RCV000197077\|RCV000763507;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158408053	158408053	3:g.158408053C>T	ClinGen:CA321516	CN517202 not provided;
NM_024996.7(GFM1):c.2016T>C (p.His672=)	85476	GFM1	Benign	rs755853174	RCV000921294\|RCV001825858;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158408058	158408058	3:g.158408058T>C	-
NM_024996.7(GFM1):c.2070+11T>G	85476	GFM1	Benign/Likely benign	rs150000838	RCV001148123\|RCV001673019;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158408123	158408123	3:g.158408123T>G	-
NM_024996.7(GFM1):c.2071-17A>G	85476	GFM1	Benign/Likely benign	rs76679758	RCV000125228\|RCV002055557\|RCV002483248;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158408911	158408911	3:g.158408911A>G	ClinGen:CA291067	CN169374 not specified;
NM_024996.7(GFM1):c.2143A>G (p.Met715Val)	85476	GFM1	Conflicting interpretations of pathogenicity	-1	RCV001665161\|RCV001827557;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158409143	158409143	158409143	-
NM_024996.7(GFM1):c.2165C>T (p.Pro722Leu)	85476	GFM1	Uncertain significance	rs764933537	RCV000199524\|RCV001835722;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158409165	158409165	3:g.158409165C>T	ClinGen:CA324068	CN169374 not specified;
NM_024996.7(GFM1):c.2190C>T (p.Asp730=)	85476	GFM1	Conflicting interpretations of pathogenicity	rs149049400	RCV000275898\|RCV000913641;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158409190	158409190	3:g.158409190C>T	ClinGen:CA2683128	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.2232del (p.Gly747fs)	85476	GFM1	Uncertain significance	rs863224034	RCV000198766\|RCV001833146;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158409231	158409231	3:g.158409231_158409231del	ClinGen:CA323296	CN517202 not provided;
NM_024996.7(GFM1):c.*6C>T	85476	GFM1	Benign	rs1047355	RCV000317038\|RCV000676472\|RCV001795960;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202\|MedGen:CN169374	3	158409262	158409262	NC_000003.11:g.158409262C>T	ClinGen:CA2683135	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*116C>T	85476	GFM1	Likely benign	rs115593809	RCV001149673\|RCV001569157;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158409372	158409372	3:g.158409372C>T	-
NM_024996.7(GFM1):c.*119G>A	85476	GFM1	Uncertain significance	rs886058122	RCV000353040;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158409375	158409375	NC_000003.11:g.158409375G>A	ClinGen:CA10617845	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*164C>A	85476	GFM1	Uncertain significance	rs924668466	RCV001149674;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158409420	158409420	3:g.158409420C>A	-
NM_024996.7(GFM1):c.*226C>T	85476	GFM1	Benign	rs1047366	RCV000262965\|RCV001613134;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN517202	3	158409482	158409482	NC_000003.11:g.158409482C>T	ClinGen:CA10617846	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*245A>C	85476	GFM1	Uncertain significance	rs886058123	RCV000317976;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158409501	158409501	NC_000003.11:g.158409501A>C	ClinGen:CA10615640	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*429C>T	85476	GFM1	Uncertain significance	rs914802350	RCV001145360;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158409685	158409685	3:g.158409685C>T	-
NM_024996.7(GFM1):c.*539C>T	85476	GFM1	Likely benign	rs75254073	RCV001145361;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158409795	158409795	3:g.158409795C>T	-
NM_024996.7(GFM1):c.*559T>C	85476	GFM1	Uncertain significance	rs886058124	RCV000323880;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158409815	158409815	NC_000003.11:g.158409815T>C	ClinGen:CA10617859	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*572A>G	85476	GFM1	Uncertain significance	rs1726365121	RCV001145362;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158409828	158409828	3:g.158409828A>G	-
NM_024996.7(GFM1):c.*578C>T	85476	GFM1	Uncertain significance	rs758670778	RCV000378782;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158409834	158409834	NC_000003.11:g.158409834C>T	ClinGen:CA10617860	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*635A>T	85476	GFM1	Uncertain significance	rs1398384267	RCV001145363;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158409891	158409891	3:g.158409891A>T	-
NM_024996.7(GFM1):c.*691T>A	85476	GFM1	Benign	rs8650	RCV000288969;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158409947	158409947	NC_000003.11:g.158409947T>A	ClinGen:CA10617863	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*713C>T	85476	GFM1	Benign	rs16829307	RCV000343936;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158409969	158409969	NC_000003.11:g.158409969C>T	ClinGen:CA10615648	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*731C>T	85476	GFM1	Benign	rs189114088	RCV000384430;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158409987	158409987	NC_000003.11:g.158409987C>T	ClinGen:CA10617864	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*766G>T	85476	GFM1	Benign	rs114751518	RCV000290294;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158410022	158410022	NC_000003.11:g.158410022G>T	ClinGen:CA10617590	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*803T>C	85476	GFM1	Uncertain significance	rs1726381360	RCV001147304;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158410059	158410059	3:g.158410059T>C	-
NM_024996.7(GFM1):c.*950C>T	85476	GFM1	Uncertain significance	rs372706819	RCV000349969;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158410206	158410206	NC_000003.11:g.158410206C>T	ClinGen:CA10617593	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*1004T>C	85476	GFM1	Uncertain significance	rs190120734	RCV000394550;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158410260	158410260	NC_000003.11:g.158410260T>C	ClinGen:CA10615162	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.*1033A>G	85476	GFM1	Uncertain significance	rs919876624	RCV001147305;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158410289	158410289	3:g.158410289A>G	-
NM_032380.5(GFM2):c.1984T>A (p.Ser662Thr)	84340	GFM2	Uncertain significance	rs141789665	RCV000200345\|RCV001824676\|RCV002515405;	N	MedGen:CN517202\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681; MONDO:MONDO:0032726,MedGen:C5193075,OMIM:618397, Orphanet:565624\|MeSH:D030342,MedGen:C0950123	5	74021509	74021509	NC_000005.9:g.74021509A>T	ClinGen:CA324909
NM_032380.5(GFM2):c.1229T>A (p.Ile410Lys)	84340	GFM2	Uncertain significance	rs863224037	RCV000200121\|RCV001824675;	N	MedGen:CN517202\|MONDO:MONDO:0032726,MedGen:C5193075,OMIM:618397, Orphanet:565624; MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	5	74034234	74034234	NC_000005.9:g.74034234A>T	ClinGen:CA324680
NM_032380.5(GFM2):c.569G>A (p.Arg190Gln)	84340	GFM2	Conflicting interpretations of pathogenicity	rs761283105	RCV000197518\|RCV000515487\|RCV000767875\|RCV001824674;	N	MedGen:CN517202\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380\|MONDO:MONDO:0032726,MedGen:C5193075,OMIM:618397, Orphanet:565624\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681; MONDO:MONDO:0032726,MedGen:C5193075,OMIM:618397, Orphanet:5	5	74043556	74043556	5:g.74043556C>T	ClinGen:CA321987,OMIM:606544.0004	C0751651 Mitochondrial diseases;
NM_022915.5(MRPL44):c.800T>A (p.Leu267Ter)	65080	MRPL44	Pathogenic	rs1574796091	RCV000791065;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	2	224828624	224828624	2:g.224828624T>A	-
NM_020191.4(MRPS22):c.508C>T (p.Arg170Cys)	56945	MRPS22	Uncertain significance	rs948280864	RCV000714744;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	139069024	139069024	NC_000003.11:g.139069024C>T	-
NM_024678.6(NARS2):c.1306C>G (p.Arg436Gly)	79731	NARS2	Uncertain significance	rs751383065	RCV000626109;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	11	78147844	78147844	11:g.78147844G>C	ClinGen:CA382178463	C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_024678.6(NARS2):c.10del (p.Val4fs)	79731	NARS2	Pathogenic	rs1555047651	RCV000626110;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	11	78285524	78285524	NC_000011.9:g.78285524delC	ClinGen:CA658797710	C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_020442.6(VARS2):c.3098C>T (p.Ser1033Phe)	57176	VARS2	Uncertain significance	rs1562465419	RCV000714819;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	6	30893893	30893893	NC_000006.11:g.30893893C>T	-