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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: Metabolism, Inborn Errors (D008661)
..Starting node ..COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
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:

2768

Name:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11

Definition:

Alternative IDs:

DO:DOID:0060286

ParentIDs:

MESH:D008661

TreeNumbers:

C16.320.565/614922 |C18.452.648/614922

Synonyms:

COXPD11 |ENCEPHALONEUROMYOPATHY, INFANTILE, DUE TO MITOCHONDRIAL TRANSLATION DEFECT

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: 614922
MeSH: 614922
OMIM: 614922;
MSeqDR : 00423;
Genes: RMND1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0001284	Areflexia
4	HP:0001638	Cardiomyopathy	HP:0040283
5	HP:0002120	Cerebral cortical atrophy
6	HP:0003429	CNS hypomyelination
7	HP:0001522	Death in infancy
8	HP:0001410	Decreased liver function
9	HP:0012448	Delayed myelination
10	HP:0011968	Feeding difficulties
11	HP:0001290	Generalized hypotonia
12	HP:0001263	Global developmental delay NAMDC: Mental retardation
13	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
14	HP:0000365	Hearing impairment
15	HP:0001397	Hepatic steatosis NAMDC: Hepatopathy with steatosis or oncocytic changes by liver biopsy
16	HP:0002240	Hepatomegaly	HP:0040283
17	HP:0002079	Hypoplasia of the corpus callosum
18	HP:0001265	Hyporeflexia
19	HP:0002490	Increased CSF lactate
20	HP:0002151	Increased serum lactate
21	HP:0003128	Lactic acidosis
22	HP:0001254	Lethargy
23	HP:0001336	Myoclonus NAMDC: Myoclonus	HP:0040283
24	HP:0003198	Myopathy NAMDC: Myopathy
25	HP:0001302	Pachygyria
26	HP:0009830	Peripheral neuropathy	HP:0040283
27	HP:0000107	Renal cyst
28	HP:0000110	Renal dysplasia
29	HP:0000089	Renal hypoplasia
30	HP:0000083	Renal insufficiency
31	HP:0001947	Renal tubular acidosis NAMDC: Renal tubular acidosis
32	HP:0001250	Seizures NAMDC: Seizures
33	HP:0006829	Severe muscular hypotonia
34	HP:0001308	Tongue fasciculations	HP:0040283
35	HP:0003828	Variable expressivity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)	55005	RMND1	Conflicting interpretations of pathogenicity	rs115079861	RCV000132559\|RCV000240835\|RCV000624852;	N	MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380\|MeSH:D030342,MedGen:C0950123	6	151726371	151726371	6:g.151726371C>G	ClinGen:CA170072,OMIM:614917.0003	C3554067 614922 Combined oxidative phosphorylation deficiency 11;
NM_017909.4(RMND1):c.1318-11T>C	55005	RMND1	Uncertain significance	rs765780346	RCV001333979\|RCV002546664;	N	MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535\|MedGen:CN517202	6	151726413	151726413	151726413	-
NM_017909.4(RMND1):c.1295T>C (p.Ile432Thr)	55005	RMND1	Uncertain significance	-1	RCV001899685\|RCV002482581;	N	MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151726877	151726877	151726877	-
NM_017909.4(RMND1):c.1289G>C (p.Trp430Ser)	55005	RMND1	Uncertain significance	-1	RCV001970645\|RCV002507724;	N	MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151726883	151726883	151726883	-
NM_017909.4(RMND1):c.1286A>T (p.Glu429Val)	55005	RMND1	Uncertain significance	rs1582936202	RCV000824692;	N	MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151726886	151726886	6:g.151726886T>A	-
NM_017909.4(RMND1):c.1250G>A (p.Arg417Gln)	55005	RMND1	Pathogenic	rs397515421	RCV000032984\|RCV000240811;	N	MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380	6	151726922	151726922	6:g.151726922C>T	ClinGen:CA130537,UniProtKB:Q9NWS8#VAR_069036,OMIM:614917.0002	C3554067 614922 Combined oxidative phosphorylation deficiency 11;
NM_017909.4(RMND1):c.1235_1238del (p.Leu412fs)	55005	RMND1	Pathogenic/Likely pathogenic	-1	RCV001884247\|RCV002503495;	N	MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151726934	151726937	151726933	-
NM_017909.4(RMND1):c.1209T>C (p.Asn403=)	55005	RMND1	Benign/Likely benign	rs75177593	RCV000886707\|RCV002501425;	N	MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151726963	151726963	6:g.151726963A>G	-
NM_017909.4(RMND1):c.1167G>A (p.Thr389=)	55005	RMND1	Benign/Likely benign	rs116201484	RCV000911563\|RCV002487985;	N	MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151738447	151738447	6:g.151738447C>T	-
NM_017909.4(RMND1):c.1159G>C (p.Asp387His)	55005	RMND1	Uncertain significance	-1	RCV002028414\|RCV002486597;	N	MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151738455	151738455	151738455	-
NM_017909.4(RMND1):c.1085G>A (p.Arg362His)	55005	RMND1	Conflicting interpretations of pathogenicity	rs142588921	RCV000509317\|RCV000521621;	N	MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535\|MedGen:CN517202	6	151738529	151738529	NC_000006.11:g.151738529C>T	ClinGen:CA4050801
NM_017909.4(RMND1):c.1084C>T (p.Arg362Cys)	55005	RMND1	Uncertain significance	-1	RCV001945205\|RCV002479392;	N	MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151738530	151738530	151738530	-
NM_017909.4(RMND1):c.1077A>G (p.Leu359=)	55005	RMND1	Likely benign	-1	RCV002151857\|RCV002500334;	N	MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151742382	151742382	151742382	-
NM_017909.4(RMND1):c.1049T>C (p.Met350Thr)	55005	RMND1	Uncertain significance	rs1582950315	RCV000824691;	N	MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151742410	151742410	6:g.151742410A>G	-
NM_017909.4(RMND1):c.1039G>A (p.Glu347Lys)	55005	RMND1	Uncertain significance	rs778086286	RCV001333978\|RCV002546663;	N	MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535\|MedGen:CN517202	6	151742420	151742420	151742420	-
NM_017909.2(RMND1):c.1003delG	55005	RMND1	Pathogenic	rs1057519299	RCV000415545;	N	MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151742456	151742456	NC_000006.11:g.151742457del	ClinGen:CA16043966,OMIM:614917.0006
NM_017909.4(RMND1):c.1002+47T>G	55005	RMND1	Benign	-1	RCV001648980\|RCV001796638;	N	MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151743629	151743629	151743629	-
NM_017909.4(RMND1):c.920A>G (p.Asn307Ser)	55005	RMND1	Uncertain significance	rs746632175	RCV000985232\|RCV002550587;	N	MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535\|MedGen:CN517202	6	151744677	151744677	6:g.151744677T>C	-
NM_017909.4(RMND1):c.859A>T (p.Ile287Phe)	55005	RMND1	Likely pathogenic	-1	RCV001391119;	N	MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151744738	151744738	151744738	-
NM_017909.4(RMND1):c.856del (p.Glu286fs)	55005	RMND1	Pathogenic	rs1780213490	RCV001261440;	N	MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151744741	151744741	6:g.151744741_151744741del	-
NM_017909.4(RMND1):c.852G>C (p.Arg284Ser)	55005	RMND1	Uncertain significance	-1	RCV001659092\|RCV002227531\|RCV002539627;	N	MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535\|MeSH:D030342,MedGen:C0950123	6	151744745	151744745	151744745	-
NM_017909.4(RMND1):c.795C>G (p.His265Gln)	55005	RMND1	Uncertain significance	-1	RCV001987952\|RCV002484759;	N	MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151748652	151748652	151748652	-
NM_017909.4(RMND1):c.783C>T (p.Ile261=)	55005	RMND1	Benign	rs17081207	RCV000127783\|RCV000971108\|RCV002483256;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151748664	151748664	6:g.151748664G>A	ClinGen:CA293081	CN169374 not specified;
NM_017909.4(RMND1):c.727del (p.Thr243fs)	55005	RMND1	Likely pathogenic	rs1582957532	RCV000991377;	N	MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151751275	151751275	6:g.151751275_151751275del	-
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)	55005	RMND1	Conflicting interpretations of pathogenicity	rs144972972	RCV000240809\|RCV000356860\|RCV000415572\|RCV000826150\|RCV001328257;	N	MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380\|MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535\|MONDO:MONDO:0016387,MedGen:CN924906, Orphanet:223713\|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:000474	6	151751289	151751289	NC_000006.11:g.151751289T>C	ClinVar:424710,ClinGen:CA048459,OMIM:614917.0004	C3554067 614922 Combined oxidative phosphorylation deficiency 11;
NM_017909.4(RMND1):c.690-20C>G	55005	RMND1	Likely benign	rs770275231	RCV000616054\|RCV002062862\|RCV002498902;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151751332	151751332	6:g.151751332G>C	ClinGen:CA4050947	CN169374 not specified;
NM_017909.4(RMND1):c.689+17A>G	55005	RMND1	Benign	rs6904364	RCV000127782\|RCV001795245\|RCV001511853;	N	MedGen:CN169374\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535\|MedGen:CN517202	6	151754273	151754273	6:g.151754273T>C	ClinGen:CA293080	CN169374 not specified;
NM_017909.4(RMND1):c.661G>C (p.Gly221Arg)	55005	RMND1	Uncertain significance	-1	RCV002267243\|RCV002496206;	N	MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151754318	151754318	151754318	-
NM_017909.4(RMND1):c.614-18G>A	55005	RMND1	Likely benign	-1	RCV002138030\|RCV002500257;	N	MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151754383	151754383	151754383	-
GRCh37/hg19 6q25.1(chr6:151757398-151757691)	55005	RMND1	Pathogenic	-1	RCV001195159;	N	MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151757398	151757691	-1	-
NM_017909.4(RMND1):c.613G>T (p.Asp205Tyr)	55005	RMND1	Pathogenic	rs606231472	RCV000415608;	N	MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151757581	151757581	NC_000006.11:g.151757581C>A	ClinGen:CA048562,OMIM:614917.0005,ClinVar:424710	C3554067 614922 Combined oxidative phosphorylation deficiency 11;
NM_017909.4(RMND1):c.583G>A (p.Gly195Arg)	55005	RMND1	Uncertain significance	-1	RCV003142703;	N	MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151757611	151757611	NC_000006.11:g.151757611C>T	-
NM_017909.4(RMND1):c.530C>T (p.Ala177Val)	55005	RMND1	Uncertain significance	rs1261711776	RCV001331006;	N	MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151757664	151757664	151757664	-
NM_017909.4(RMND1):c.526T>A (p.Phe176Ile)	55005	RMND1	Uncertain significance	-1	RCV001897950\|RCV002506967;	N	MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151757668	151757668	151757668	-
NM_017909.4(RMND1):c.504+1G>A	55005	RMND1	Likely pathogenic	rs1562800908	RCV000032983\|RCV001814019;	N	MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535\|Human Phenotype Ontology:HP:0000707,Human Phenotype Ontology:HP:0001333,Human Phenotype Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552	6	151766442	151766442	NC_000006.11:g.151766442C>T	OMIM:614917.0001
NM_017909.4(RMND1):c.501C>T (p.Asn167=)	55005	RMND1	Likely benign	rs374790732	RCV000916440\|RCV002505355;	N	MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151766446	151766446	6:g.151766446G>A	-
NM_017909.4(RMND1):c.485del (p.Pro162fs)	55005	RMND1	Pathogenic	rs759477396	RCV000335367\|RCV002487178;	N	MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151766462	151766462	NC_000006.11:g.151766463del	ClinGen:CA4051029
NM_017909.4(RMND1):c.388del (p.Val130fs)	55005	RMND1	Likely pathogenic	rs1582970514	RCV000987799;	N	MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151766559	151766559	6:g.151766559_151766559del	-
NM_017909.4(RMND1):c.260G>A (p.Arg87His)	55005	RMND1	Conflicting interpretations of pathogenicity	-1	RCV001944819\|RCV002550381\|RCV002506914;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151766687	151766687	151766687	-
NM_017909.4(RMND1):c.257C>T (p.Ala86Val)	55005	RMND1	Uncertain significance	-1	RCV002027425\|RCV002507816;	N	MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151766690	151766690	151766690	-
NM_017909.4(RMND1):c.201C>A (p.Ile67=)	55005	RMND1	Likely benign	rs182333944	RCV000919179\|RCV002495534;	N	MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151766746	151766746	6:g.151766746G>T	-
NM_017909.4(RMND1):c.188A>G (p.Asn63Ser)	55005	RMND1	Uncertain significance	-1	RCV001927528\|RCV002490163;	N	MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151766759	151766759	151766759	-
NM_017909.4(RMND1):c.125G>T (p.Ser42Ile)	55005	RMND1	Benign	rs11550103	RCV000127787\|RCV000676840\|RCV001795246;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151766822	151766822	6:g.151766822C>A	ClinGen:CA293088,UniProtKB:Q9NWS8#VAR_051864	CN517202 not provided;
NM_017909.4(RMND1):c.68G>A (p.Arg23Gln)	55005	RMND1	Uncertain significance	-1	RCV001873128\|RCV002506932;	N	MedGen:CN517202\|MONDO:MONDO:0013969,MedGen:C5190991,OMIM:614922, Orphanet:324535	6	151766879	151766879	151766879	-