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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, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: combined oxidative phosphorylation deficiency (MONDO:0000732)
Parent Node: mitochondrial disorder due to a defect in mitochondrial protein synthesis (MONDO:0018157)
..Starting node ..hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ()
Child Nodes:
Sister Nodes:
..acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins () L: 00110;
..c12orf65-related combined oxidative phosphorylation defect ()
..cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ()
..combined oxidative phosphorylation defect type 11 () L: 00423;
..combined oxidative phosphorylation defect type 13 () L: 00512;
..combined oxidative phosphorylation defect type 14 () L: 00094;
..combined oxidative phosphorylation defect type 15 () L: 00095;
..combined oxidative phosphorylation defect type 17 () L: 00513;
..combined oxidative phosphorylation defect type 2 () L: 00096;
..combined oxidative phosphorylation defect type 20 () L: 00515;
..combined oxidative phosphorylation defect type 21 () L: 00501;
..combined oxidative phosphorylation defect type 23 () L: 00516;
..combined oxidative phosphorylation defect type 24 () L: 00517;
..combined oxidative phosphorylation defect type 25 () L: 00503;
..combined oxidative phosphorylation defect type 26 () L: 00518;
..combined oxidative phosphorylation defect type 27 () L: 00519;
..combined oxidative phosphorylation defect type 30 () L: 00521;
..combined oxidative phosphorylation defect type 4 () L: 00098;
..combined oxidative phosphorylation defect type 7 () L: 00493;
..combined oxidative phosphorylation defect type 8 () L: 00076;
..combined oxidative phosphorylation defect type 9 () L: 00100;
..fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 () L: 00097;
..hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 () L: 00092;
..hereditary spastic paraplegia 55 ()
..hereditary spastic paraplegia 7 () L: 00497;
..hereditary spastic paraplegia 77 ()
..hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome ()
..hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ()
..hypotonia with lactic acidemia and hyperammonemia () L: 00099;
..infantile hypertrophic cardiomyopathy due to MRPL44 deficiency () L: 00080;
..leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome () L: 00418;
..leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome () L: 00511;
..mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency () L: 00093;
..mitochondrial myopathy and sideroblastic anemia ()
..neonatal severe cardiopulmonary failure due to mitochondrial methylation defect () L: 00520;
..Perrault syndrome ()
..pontocerebellar hypoplasia type 6 () L: 00420;
..severe X-linked mitochondrial encephalomyopathy () L: 00411;
..spastic ataxia 3 ()
..spastic ataxia 4 () L: 00083;
..spinocerebellar ataxia type 28 () L: 00498;
..syndromic sensorineural deafness due to combined oxidative phosphorylation defect ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

12191

Name:

hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Definition:

Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.

Alternative IDs:

609060

ParentIDs:

TreeNumbers:

Synonyms:

combined oxidative phosphorylation deficiency 1; combined oxidative phosphorylation deficiency 1; COXPD1; combined oxidative phosphorylation deficiency caused by mutation in GFM1; combined oxidative phosphorylation deficiency type 1; COXPD1; GFM1 combined oxidative phosphorylation deficiency; Hepato

Slim Mappings:

Reference:

MedGen:
MeSH:
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.54del (p.Ala19fs)	85476	GFM1	Pathogenic/Likely pathogenic	765266988	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.69G>A (p.Trp23Ter)	85476	GFM1	Pathogenic/Likely pathogenic	763344414	RCV001941657\|RCV003464295;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158362492	158362492	158362492	-
NM_024996.7(GFM1):c.89_99del (p.Trp30fs)	85476	GFM1	Pathogenic/Likely pathogenic	763423294	RCV001953530\|RCV003146413;	N	MedGen:C3661900\|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	766234016	RCV001002683\|RCV002549188;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158363436	158363436	3:g.158363436C>T	-
NM_024996.7(GFM1):c.247_248del (p.Asp83fs)	85476	GFM1	Pathogenic/Likely pathogenic	1721780124	RCV001204932\|RCV003462686;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158363965	158363966	3:g.158363965_158363966del	-
NM_024996.7(GFM1):c.273del (p.Met92fs)	85476	GFM1	Pathogenic/Likely pathogenic	863224033	RCV000200452\|RCV002500612;	N	MedGen:C3661900\|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.291_292del (p.Gly99fs)	85476	GFM1	Pathogenic/Likely pathogenic	752400894	RCV000807566\|RCV003461170;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158364009	158364010	3:g.158364009_158364010del	-
NM_024996.7(GFM1):c.532C>T (p.Arg178Ter)	85476	GFM1	Pathogenic/Likely pathogenic	1721865059	RCV001942340\|RCV003464305;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158364696	158364696	158364696	-
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser)	85476	GFM1	Pathogenic/Likely pathogenic	774456344	RCV000199744\|RCV003330568\|RCV003417713;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|	3	158366945	158366945	3:g.158366945G>A	ClinGen:CA324294	CN517202 not provided;
NM_024996.7(GFM1):c.689+908G>A	85476	GFM1	Pathogenic/Likely pathogenic	751069628	RCV000851196\|RCV001377165\|RCV003465353;	N	MONDO:MONDO:0000732,MedGen:C4540031,OMIM:PS609060\|MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158367854	158367854	3:g.158367854G>A	ClinGen:CA2682393	CN169374 not specified;
NM_024996.7(GFM1):c.690_693del	85476	GFM1	Pathogenic/Likely pathogenic	778902849	RCV001932580\|RCV002506920\|RCV003416518;	N	MedGen:C3661900\|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/Likely pathogenic	863224032	RCV000198570\|RCV000995549;	N	MedGen:C3661900\|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.748C>T (p.Arg250Trp)	85476	GFM1	Pathogenic/Likely pathogenic	139430866	RCV000023564\|RCV000800330\|RCV000851197\|RCV003156063;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900\|MONDO:MONDO:0000732,MedGen:C4540031,OMIM:PS609060\|	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.850C>T (p.Arg284Ter)	85476	GFM1	Pathogenic/Likely pathogenic	771890880	RCV002000204\|RCV003471142;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158371108	158371108	158371108	-
NM_024996.7(GFM1):c.1090C>T (p.Arg364Ter)	85476	GFM1	Pathogenic/Likely pathogenic	775919783	RCV001389333\|RCV003463027;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158376717	158376717	158376717	-
NM_024996.7(GFM1):c.1172del (p.Lys391fs)	85476	GFM1	Pathogenic/Likely pathogenic	1263604546	RCV001926961\|RCV003471067;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158376797	158376797	158376796	-
NM_024996.7(GFM1):c.1186C>T (p.Gln396Ter)	85476	GFM1	Pathogenic/Likely pathogenic	1332636394	RCV001963289\|RCV003464329;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158376813	158376813	158376813	-
NM_024996.7(GFM1):c.1255_1277dup (p.Ser427fs)	85476	GFM1	Pathogenic/Likely pathogenic	753352064	RCV001052419\|RCV003462551;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158378695	158378696	3:g.158378695_158378696insGCATTGTTTGGCATTGACTGTGC	-
NM_024996.7(GFM1):c.1424del (p.Arg475fs)	85476	GFM1	Pathogenic/Likely pathogenic	1723572750	RCV002616147\|RCV003156151\|RCV003459761;	N	MedGen:C3661900\|\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158383169	158383169	NC_000003.11:g.158383169del	-
NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs)	85476	GFM1	Pathogenic/Likely pathogenic	768112611	RCV001970149\|RCV002252739\|RCV003471167;	N	MedGen:C3661900\|\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158384102	158384103	158384101	-
NM_024996.7(GFM1):c.1596del (p.Val533fs)	85476	GFM1	Pathogenic/Likely pathogenic	761095873	RCV000196892\|RCV003468887;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158384170	158384170	NC_000003.11:g.158384170del	ClinGen:CA321313	CN517202 not provided;
NM_024996.7(GFM1):c.1632dup (p.Gly545fs)	85476	GFM1	Pathogenic/Likely pathogenic	-1	RCV003070265\|RCV003465956;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158399813	158399814	NC_000003.11:g.158399814dup	-
NM_024996.7(GFM1):c.1882C>T (p.Arg628Ter)	85476	GFM1	Pathogenic/Likely pathogenic	889180452	RCV002000104\|RCV003471141;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158402430	158402430	158402430	-
NM_024996.7(GFM1):c.2008C>T (p.Arg670Ter)	85476	GFM1	Pathogenic/Likely pathogenic	1402362655	RCV001067859\|RCV003387961;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158408050	158408050	3:g.158408050C>T	-
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)	85476	GFM1	Pathogenic/Likely pathogenic	201408725	RCV000197077\|RCV000763507;	N	MedGen:C3661900\|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.3G>A (p.Met1Ile)	85476	GFM1	Pathogenic	863224030	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.139C>T (p.Arg47Ter)	85476	GFM1	Pathogenic	119470019	RCV000004378\|RCV001207728;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158363475	158363475	3:g.158363475C>T	ClinGen:CA210485,OMIM:606639.0002	C1836797 609060 Combined oxidative phosphorylation deficiency 1;
NM_024996.7(GFM1):c.193C>T (p.Arg65Ter)	85476	GFM1	Pathogenic	62286651	RCV000798054\|RCV003467367;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158363529	158363529	3:g.158363529C>T	-
NM_024996.7(GFM1):c.248A>T (p.Asp83Val)	85476	GFM1	Pathogenic	1576721522	RCV001002680;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158363967	158363967	3:g.158363967A>T	-
NM_024996.7(GFM1):c.409G>A (p.Val137Met)	85476	GFM1	Pathogenic	767325554	RCV001449659;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158364573	158364573	158364573	-
NM_024996.7(GFM1):c.539del (p.Gly180fs)	85476	GFM1	Pathogenic	1362847020	RCV000798894\|RCV003232990;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158364701	158364701	3:g.158364701_158364701del	-
NM_024996.7(GFM1):c.661C>T (p.Arg221Ter)	85476	GFM1	Pathogenic	780762234	RCV001067025\|RCV003462600;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158366918	158366918	3:g.158366918C>T	-
NM_024996.7(GFM1):c.720del (p.Glu241fs)	85476	GFM1	Pathogenic	745718158	RCV000809691\|RCV001273488;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158369915	158369915	3:g.158369915_158369915del	-
NM_024996.7(GFM1):c.817dup (p.Ile273fs)	85476	GFM1	Pathogenic	-1	RCV002680697\|RCV003464582;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158370006	158370007	NC_000003.11:g.158370012dup	-
NM_024996.7(GFM1):c.914del (p.Gly305fs)	85476	GFM1	Pathogenic	-1	RCV003461690;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158371171	158371171		-
NM_024996.7(GFM1):c.1149_1160del (p.Ile384_Thr387del)	85476	GFM1	Pathogenic	1576745248	RCV001002681;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158376772	158376783	3:g.158376772_158376783del	-
NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs)	85476	GFM1	Pathogenic	866604517	RCV001002676\|RCV001384808;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158378735	158378738	3:g.158378735_158378738del	-
NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter)	85476	GFM1	Pathogenic	757691557	RCV001329386;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158380417	158380417	158380417	-
NM_024996.7(GFM1):c.1404del (p.Gly469fs)	85476	GFM1	Pathogenic	779877297	RCV001002677\|RCV001869432;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158383146	158383146	3:g.158383146_158383146del	-
NM_024996.7(GFM1):c.1487T>G (p.Met496Arg)	85476	GFM1	Pathogenic	119470020	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.1510del (p.Tyr504fs)	85476	GFM1	Pathogenic	1560135485	RCV001783359;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158383255	158383255	158383254	-
NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg)	85476	GFM1	Pathogenic	1576757241	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	143031224	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	1004779078	RCV001381644\|RCV001831380;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158384150	158384150	158384150	-
NM_024996.7(GFM1):c.1765-2_1765-1del	85476	GFM1	Pathogenic	1245712932	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.81+1G>A	85476	GFM1	Likely pathogenic	1262218849	RCV001378369\|RCV001831352;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158362505	158362505	158362505	-
NM_024996.7(GFM1):c.113_116dup (p.Val40fs)	85476	GFM1	Likely pathogenic	-1	RCV003461700;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158363448	158363449		-
NM_024996.7(GFM1):c.114_115del (p.Val40fs)	85476	GFM1	Likely pathogenic	-1	RCV003461701;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158363450	158363451		-
NM_024996.7(GFM1):c.136del (p.Ile46fs)	85476	GFM1	Likely pathogenic	-1	RCV003461695;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158363467	158363467		-
NM_024996.7(GFM1):c.154_155del (p.Ala53fs)	85476	GFM1	Likely pathogenic	-1	RCV003468270;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158363488	158363489		-
NM_024996.7(GFM1):c.166_169dup (p.Ser57Ter)	85476	GFM1	Likely pathogenic	752037355	RCV000483794\|RCV003470574;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158363498	158363499	NC_000003.11:g.158363502_158363505dup	ClinGen:CA2682235	CN517202 not provided;
NM_024996.7(GFM1):c.324C>G (p.Tyr108Ter)	85476	GFM1	Likely pathogenic	-1	RCV003461706;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158364043	158364043		-
NM_024996.7(GFM1):c.361dup (p.Thr121fs)	85476	GFM1	Likely pathogenic	-1	RCV003468278;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158364079	158364080		-
NM_024996.7(GFM1):c.362_367delinsTT (p.Thr121fs)	85476	GFM1	Likely pathogenic	-1	RCV003461697;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158364081	158364086		-
NM_024996.7(GFM1):c.367+1G>A	85476	GFM1	Likely pathogenic	-1	RCV003461688;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158364087	158364087		-
NM_024996.7(GFM1):c.368-2A>G	85476	GFM1	Likely pathogenic	-1	RCV003065787\|RCV003465945;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158364530	158364530	NC_000003.11:g.158364530A>G	-
NM_024996.7(GFM1):c.368-2A>C	85476	GFM1	Likely pathogenic	-1	RCV003468271;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158364530	158364530		-
NM_024996.7(GFM1):c.381del (p.Phe127fs)	85476	GFM1	Likely pathogenic	-1	RCV003468273;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158364545	158364545		-
NM_024996.7(GFM1):c.395A>C (p.Glu132Ala)	85476	GFM1	Likely pathogenic	1553847587	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.521A>G (p.Asn174Ser)	85476	GFM1	Likely pathogenic	119470018	RCV000004377\|RCV000657878;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	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.527T>A (p.Leu176Ter)	85476	GFM1	Likely pathogenic	-1	RCV003461704;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158364691	158364691		-
NM_024996.7(GFM1):c.573-2A>G	85476	GFM1	Likely pathogenic	-1	RCV003461694;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158366828	158366828		-
NM_024996.7(GFM1):c.579dup (p.Leu194fs)	85476	GFM1	Likely pathogenic	-1	RCV003461693;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158366833	158366834		-
NM_024996.7(GFM1):c.626del (p.Gly209fs)	85476	GFM1	Likely pathogenic	-1	RCV003468268;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158366881	158366881		-
NM_024996.7(GFM1):c.636del (p.Gly213fs)	85476	GFM1	Likely pathogenic	-1	RCV003468279;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158366891	158366891		-
NM_024996.7(GFM1):c.689+1G>A	85476	GFM1	Likely pathogenic	1449057162	RCV002029942\|RCV003464159;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158366947	158366947	158366947	-
NM_024996.7(GFM1):c.689+2T>C	85476	GFM1	Likely pathogenic	-1	RCV003468277;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158366948	158366948		-
NM_024996.7(GFM1):c.705T>G (p.Tyr235Ter)	85476	GFM1	Likely pathogenic	-1	RCV003461692;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158369900	158369900		-
NM_024996.7(GFM1):c.725T>G (p.Leu242Ter)	85476	GFM1	Likely pathogenic	-1	RCV003461702;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158369920	158369920		-
NM_024996.7(GFM1):c.748del (p.Arg250fs)	85476	GFM1	Likely pathogenic	2108016910	RCV001580712;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158369942	158369942	158369941	-
NM_024996.7(GFM1):c.787C>T (p.Gln263Ter)	85476	GFM1	Likely pathogenic	-1	RCV003468267;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158369982	158369982		-
NM_024996.7(GFM1):c.909del (p.Asn303fs)	85476	GFM1	Likely pathogenic	-1	RCV003461698;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158371167	158371167		-
NM_024996.7(GFM1):c.929T>G (p.Leu310Ter)	85476	GFM1	Likely pathogenic	-1	RCV003461699;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158371187	158371187		-
NM_024996.7(GFM1):c.952C>T (p.Pro318Ser)	85476	GFM1	Likely pathogenic	1722463582	RCV001089485;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158371210	158371210	3:g.158371210C>T	-
NM_024996.7(GFM1):c.974del (p.Asn325fs)	85476	GFM1	Likely pathogenic	-1	RCV003461707;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158371231	158371231		-
NM_024996.7(GFM1):c.997_998+2del	85476	GFM1	Likely pathogenic	763084523	RCV001209160\|RCV001833837;	N	MedGen:C3661900\|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	757524798	RCV001377804\|RCV001836383;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158372335	158372335	158372335	-
NM_024996.7(GFM1):c.999-1G>C	85476	GFM1	Likely pathogenic	-1	RCV003468275;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158372335	158372335		-
NM_024996.7(GFM1):c.1044_1056del (p.Asn349fs)	85476	GFM1	Likely pathogenic	-1	RCV003461689;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158372380	158372392		-
NM_024996.7(GFM1):c.1157dup (p.Asn386fs)	85476	GFM1	Likely pathogenic	-1	RCV003468274;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158376782	158376783		-
NM_024996.7(GFM1):c.1193T>C (p.Leu398Pro)	85476	GFM1	Likely pathogenic	-1	RCV003468269;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158376820	158376820		-
NM_024996.7(GFM1):c.1303dup (p.Ala435fs)	85476	GFM1	Likely pathogenic	-1	RCV003461703;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158378743	158378744		-
NM_024996.7(GFM1):c.1380+2T>G	85476	GFM1	Likely pathogenic	-1	RCV003063372\|RCV003459734;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158380475	158380475	NC_000003.11:g.158380475T>G	-
NM_024996.7(GFM1):c.1381-1G>C	85476	GFM1	Likely pathogenic	-1	RCV003468272;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158383125	158383125		-
NM_024996.7(GFM1):c.1516C>T (p.Gln506Ter)	85476	GFM1	Likely pathogenic	-1	RCV003461687;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158383261	158383261		-
NM_024996.7(GFM1):c.1601+1G>A	85476	GFM1	Likely pathogenic	748116978	RCV001210116\|RCV003462703;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158384176	158384176	3:g.158384176G>A	-
NM_024996.7(GFM1):c.1765-2A>G	85476	GFM1	Likely pathogenic	2108102423	RCV001973042\|RCV003471216;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158402311	158402311	158402311	-
NM_024996.7(GFM1):c.1799del (p.Ser600fs)	85476	GFM1	Likely pathogenic	-1	RCV003461705;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158402347	158402347		-
NM_024996.7(GFM1):c.1905_1908del (p.Gln636fs)	85476	GFM1	Likely pathogenic	-1	RCV003461686;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158402451	158402454		-
NM_024996.7(GFM1):c.1909+2T>A	85476	GFM1	Likely pathogenic	-1	RCV003461691;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158402459	158402459		-
NM_024996.7(GFM1):c.1910-2A>T	85476	GFM1	Likely pathogenic	867885977	RCV001377756\|RCV001826130;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158407950	158407950	158407950	-
NM_024996.7(GFM1):c.1951del (p.Ala651fs)	85476	GFM1	Likely pathogenic	-1	RCV003468276;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158407992	158407992		-
NM_024996.7(GFM1):c.1981C>T (p.Gln661Ter)	85476	GFM1	Likely pathogenic	-1	RCV003468280;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158408023	158408023		-
NM_024996.7(GFM1):c.2167T>C (p.Cys723Arg)	85476	GFM1	Likely pathogenic	-1	RCV003233002;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158409167	158409167		-
NM_024996.7(GFM1):c.-85C>T	85476	GFM1	Uncertain significance	893145449	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	116614958	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	564879457	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	377352238	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	28372852	RCV000295077\|RCV001672626;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	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	28372853	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	112860155	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.18T>C (p.Ala6=)	85476	GFM1	Benign	1864507	RCV000282348\|RCV000676466\|RCV001795958;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900\|MedGen:CN169374	3	158362441	158362441	NC_000003.11:g.158362441T>C	ClinGen:CA2682184	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.51C>T (p.Ala17=)	85476	GFM1	Likely benign	937454854	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	567086019	RCV000337390\|RCV000943185;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	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	574200635	RCV000195533\|RCV000398210\|RCV000915754;	N	MedGen:CN169374\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158362500	158362500	NC_000003.11:g.158362500A>G	ClinGen:CA319884	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.81+5C>T	85476	GFM1	Uncertain significance	886058119	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	1864506	RCV001543940\|RCV001655851;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158362526	158362526	158362526	-
NM_024996.7(GFM1):c.81+84C>G	85476	GFM1	Benign	1864505	RCV001543941\|RCV001713120;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158362588	158362588	158362588	-
NM_024996.7(GFM1):c.114del (p.Gly39_Val40insTer)	85476	GFM1	Conflicting interpretations of pathogenicity	-1	RCV003459779\|RCV003112759;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158363450	158363450	NC_000003.11:g.158363450del	-
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp)	85476	GFM1	Benign/Likely benign	35942089	RCV000125223\|RCV000361226\|RCV000964843;	N	MedGen:CN169374\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158363463	158363463	3:g.158363463A>G	ClinGen:CA291058	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.152T>G (p.Ile51Ser)	85476	GFM1	Uncertain significance	-1	RCV003340925;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158363488	158363488		-
NM_024996.7(GFM1):c.192A>G (p.Glu64=)	85476	GFM1	Likely benign	1576720639	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	62286651	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	140377587	RCV000923394\|RCV001272458;	N	MedGen:C3661900\|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	778603797	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	372189223	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	201304690	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.344A>G (p.Asn115Ser)	85476	GFM1	Conflicting interpretations of pathogenicity	779253646	RCV001563841\|RCV002568428\|RCV002072149;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	3	158364063	158364063	158364063	-
NM_024996.7(GFM1):c.373G>A (p.Val125Met)	85476	GFM1	Conflicting interpretations of pathogenicity	200923387	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.408A>T (p.Arg136Ser)	85476	GFM1	Uncertain significance	1721844379	RCV001329387;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158364572	158364572	158364572	-
NM_024996.7(GFM1):c.424del (p.Val142fs)	85476	GFM1	Conflicting interpretations of pathogenicity	886058120	RCV000272222\|RCV000814936;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	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	758591202	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	34297061	RCV000125225\|RCV000224568\|RCV000999807;	N	MedGen:CN169374\|MedGen:C3661900\|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	762364300	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.568A>C (p.Met190Leu)	85476	GFM1	Benign/Likely benign	75450876	RCV000125226\|RCV000224632\|RCV000368039;	N	MedGen:CN169374\|MedGen:C3661900\|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	2108009356	RCV001379654\|RCV001831371;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158366829	158366829	158366829	-
NM_024996.7(GFM1):c.575C>A (p.Ser192Tyr)	85476	GFM1	Uncertain significance	-1	RCV003148553;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158366832	158366832		-
NM_024996.7(GFM1):c.596C>T (p.Ala199Val)	85476	GFM1	Uncertain significance	145247687	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	1722079229	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	1722080493	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	191462023	RCV000198516\|RCV000764473;	N	MedGen:C3661900\|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	2303909	RCV000676468\|RCV000987347\|RCV001795959;	N	MedGen:C3661900\|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	143446452	RCV000918367\|RCV001272459;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158366924	158366924	3:g.158366924A>G	-
NM_024996.7(GFM1):c.679G>A (p.Gly227Arg)	85476	GFM1	Uncertain significance	-1	RCV003153203;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158366936	158366936		-
NM_024996.7(GFM1):c.689+891C>T	85476	GFM1	Benign	56167308	RCV001543942\|RCV001694070;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158367837	158367837	158367837	-
NM_024996.7(GFM1):c.690-87A>G	85476	GFM1	Benign	9810874	RCV001543943\|RCV001647392;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158369798	158369798	158369798	-
NM_024996.7(GFM1):c.690-5C>G	85476	GFM1	Conflicting interpretations of pathogenicity	201685981	RCV000197431\|RCV000415998\|RCV001001208;	N	MedGen:CN169374\|MedGen:C3661900\|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.701G>A (p.Arg234Gln)	85476	GFM1	Uncertain significance	1202361363	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	377418512	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.754G>A (p.Glu252Lys)	85476	GFM1	Uncertain significance	-1	RCV003148198;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158369949	158369949		-
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg)	85476	GFM1	Benign/Likely benign	115984741	RCV000886511\|RCV001272460;	N	MedGen:C3661900\|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	1722357550	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	771865940	RCV000416186\|RCV000779394;	N	MedGen:C3661900\|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	1722451256	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	763546447	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.960A>C (p.Pro320=)	85476	GFM1	Benign/Likely benign	145970222	RCV000195750\|RCV000316489\|RCV000910628;	N	MedGen:CN169374\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	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	531887279	RCV000376033\|RCV000933080;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158371245	158371245	NC_000003.11:g.158371245C>A	ClinGen:CA2682465	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1032C>T (p.Asn344=)	85476	GFM1	Conflicting interpretations of pathogenicity	373952002	RCV000281525\|RCV000429176\|RCV000952513;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN169374\|MedGen:C3661900	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	187690169	RCV000341073\|RCV001636960\|RCV002523249;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900\|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	142919829	RCV000125222\|RCV000390538\|RCV000676469;	N	MedGen:CN169374\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	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	753905803	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	62286656	RCV001543944\|RCV001638146;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158372477	158372477	158372477	-
NM_024996.7(GFM1):c.1083+82T>C	85476	GFM1	Benign	9884039	RCV001543945\|RCV001713121;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158372502	158372502	158372502	-
NM_024996.7(GFM1):c.1102T>C (p.Leu368=)	85476	GFM1	Likely benign	142843314	RCV000891379\|RCV001272462;	N	MedGen:C3661900\|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	1023544297	RCV001147219;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158376745	158376745	3:g.158376745G>A	-
NM_024996.7(GFM1):c.1180C>T (p.Arg394Trp)	85476	GFM1	Uncertain significance	183140307	RCV001241465\|RCV001836211;	N	MedGen:C3661900\|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	374335959	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	149949638	RCV000197193\|RCV000946773\|RCV001147220;	N	MedGen:CN169374\|MedGen:C3661900\|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=)	85476	GFM1	Uncertain significance	-1	RCV003135362;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	3	158376836	158376836		-
NM_024996.7(GFM1):c.1221+20G>A	85476	GFM1	Uncertain significance	1412836196	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	1314322801	RCV001558686\|RCV001832761\|RCV002568379;	N	MedGen:C3661900\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MeSH:D030342,MedGen:C0950123	3	158378697	158378697	158378697	-
NM_024996.7(GFM1):c.1305C>G (p.Ala435=)	85476	GFM1	Conflicting interpretations of pathogenicity	141368418	RCV000941272\|RCV001147221;	N	MedGen:C3661900\|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	1187874654	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	2291594	RCV001543946\|RCV001619959;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158378836	158378836	158378836	-
NM_024996.7(GFM1):c.1323+83A>G	85476	GFM1	Benign	2291595	RCV000830746\|RCV001543947;	N	MedGen:C3661900\|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	375168014	RCV000286924\|RCV000424127\|RCV002057852;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:CN169374\|MedGen:C3661900	3	158380402	158380402	3:g.158380402T>A	ClinGen:CA2682612	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1343A>G (p.Asp448Gly)	85476	GFM1	Likely benign	146951325	RCV000341858\|RCV000911472;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	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	774280744	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	774976760	RCV001480040\|RCV001563842;	N	MedGen:C3661900\|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	200244667	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	886058121	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.1406G>A (p.Gly469Asp)	85476	GFM1	Uncertain significance	750855220	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	138058648	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.1494A>G (p.Glu498=)	85476	GFM1	Conflicting interpretations of pathogenicity	149454742	RCV000897890\|RCV001148119;	N	MedGen:C3661900\|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.1518+1G>A	85476	GFM1	Uncertain significance	1560135491	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	7628497	RCV001543948\|RCV001655852;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158384068	158384068	158384068	-
NM_024996.7(GFM1):c.1593C>T (p.Ala531=)	85476	GFM1	Benign/Likely benign	114754676	RCV000197206\|RCV000883125\|RCV001148120;	N	MedGen:CN169374\|MedGen:C3661900\|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	77186707	RCV000125224\|RCV000400146\|RCV000676470;	N	MedGen:CN169374\|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158384184	158384184	3:g.158384184G>C	ClinGen:CA291060	CN201731 Combined oxidative phosphorylation deficiency;
NM_024996.7(GFM1):c.1781G>A (p.Cys594Tyr)	85476	GFM1	Uncertain significance	1576790457	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	762576741	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	541171482	RCV001449604\|RCV001865913;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158402371	158402371	158402371	-
NM_024996.7(GFM1):c.1830C>T (p.Val610=)	85476	GFM1	Likely benign	139680551	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	190393538	RCV000312996\|RCV001521349;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	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	767798328	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.1910-1G>A	85476	GFM1	Conflicting interpretations of pathogenicity	1462851267	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.1948A>G (p.Met650Val)	85476	GFM1	Uncertain significance	147847472	RCV001148122\|RCV002559421\|RCV002557175;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900\|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	62288347	RCV000125227\|RCV000676471\|RCV000999813;	N	MedGen:CN169374\|MedGen:C3661900\|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.2016T>C (p.His672=)	85476	GFM1	Benign	755853174	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	150000838	RCV001148123\|RCV001673019;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158408123	158408123	3:g.158408123T>G	-
NM_024996.7(GFM1):c.2071-17A>G	85476	GFM1	Benign/Likely benign	76679758	RCV000125228\|RCV002055557\|RCV002483248;	N	MedGen:CN169374\|MedGen:C3661900\|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	147620098	RCV001827557\|RCV001665161;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158409143	158409143	158409143	-
NM_024996.7(GFM1):c.2165C>T (p.Pro722Leu)	85476	GFM1	Uncertain significance	764933537	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	149049400	RCV000275898\|RCV000913641;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	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	863224034	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	1047355	RCV000317038\|RCV000676472\|RCV001795960;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900\|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	115593809	RCV001149673\|RCV001569157;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	3	158409372	158409372	3:g.158409372C>T	-
NM_024996.7(GFM1):c.*119G>A	85476	GFM1	Uncertain significance	886058122	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	924668466	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	1047366	RCV000262965\|RCV001613134;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|MedGen:C3661900	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	886058123	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	914802350	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	75254073	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	886058124	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	1726365121	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	758670778	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	1398384267	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	8650	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	16829307	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	189114088	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	114751518	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	1726381360	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	372706819	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	190120734	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	919876624	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	141789665	RCV000200345\|RCV001824676\|RCV002515405;	N	MedGen:C3661900\|MONDO:MONDO:0032726,MedGen:C5193075,OMIM:618397, Orphanet:565624; MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681\|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	863224037	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	761283105	RCV000197518\|RCV000515487\|RCV000767875\|RCV001824674;	N	MedGen:C3661900\|MONDO:MONDO:0044970,MeSH:D028361,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:6183	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	1574796091	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	948280864	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.10del (p.Val4fs)	79731	NARS2	Pathogenic	1555047651	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_024678.6(NARS2):c.1306C>G (p.Arg436Gly)	79731	NARS2	Uncertain significance	751383065	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_020442.6(VARS2):c.3098C>T (p.Ser1033Phe)	57176	VARS2	Uncertain significance	1562465419	RCV000714819;	N	MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681	6	30893893	30893893	NC_000006.11:g.30893893C>T	-